Conditions list
The Generation Study will be testing babies for changes in genes linked to more than 200 rare genetic conditions.
These all meet a set of four principles that have guided our approach to choosing conditions. Find out more about our process.
As we learn more from the study and respond to emerging evidence and research, the list of conditions and gene changes we test for may change. Babies in the Generation Study will be tested for the conditions listed at the time they joined the study and will not be re-analysed if this list changes.
This list includes more than 200 individual conditions caused by genetic changes in around 500 different genes. The latest full list of conditions is provided in alphabetical order below.
Current list publication date: 29 April 2024
If you would like to view previous versions of the list of conditions tested in the Study, please contact us via our Service Desk.
Conditions A-C
Condition group | Gene | Condition name (OMIM) |
Abetalipoproteinaemia | MTTP | Abetalipoproteinaemia |
Achalasia-addisonianism-alacrimia syndrome | AAAS | Achalasia-addisonianism-alacrimia syndrome |
Acrodermatitis enteropathica | SLC39A4 | Acrodermatitis enteropathica |
Adenine phosphoribosyltransferase deficiency | APRT | Adenine phosphoribosyltransferase deficiency |
Adenosine deaminase 2 deficiency | ADA2 | Deficiency of ADA2 (DADA2) |
Adrenocorticotropic hormone deficiency | TBX19 | Adrenocorticotropic hormone deficiency |
Adrenoleukodystrophy | ABCD1 | Adrenoleukodystrophy |
Afibrinogenaemia | FGA | FGA related afibrinogenaemia |
Afibrinogenaemia | FGB | FGA related afibrinogenaemia |
Afibrinogenaemia | FGG | FGA related afibrinogenaemia |
Agammaglobulinaemia | BTK | X-linked Agammaglobulinaemia |
Agammaglobulinaemia | IGHM | Agammaglobulinaemia 1 |
Agammaglobulinaemia | IGLL1 | Agammaglobulinaemia 2 |
Agammaglobulinaemia | CD79A | Agammaglobulinaemia 3 |
Agammaglobulinaemia | CD79B | Agammaglobulinaemia 6 |
Agammaglobulinaemia | BLNK | Agammaglobulinaemia 4 |
Agammaglobulinaemia | PIK3R1 | Agammaglobulinaemia 7 |
Agammaglobulinaemia | TCF3 | Agammaglobulinaemia 8, autosomal recessive |
Agammaglobulinaemia | TCF3 | Agammaglobulinaemia 8, autosomal dominant |
Agammaglobulinaemia | SLC39A7 | SLC39A7 associated Agammaglobulinaemia |
Alpha-methylacetoacetic aciduria | ACAT1 | Alpha-methylacetoacetic aciduria |
Alport syndrome | COL4A5 | COL4A5 related X-linked Alport Syndrome |
Alport syndrome | COL4A4 | COL4A4 related autosomal recessive Alport Syndrome |
Alport syndrome | COL4A3 | COL4A3 related autosomal recessive Alport Syndrome |
Apparent mineralocorticoid excess | HSD11B2 | Apparent mineralocorticoid excess |
Arginase deficiency | ARG1 | Argininaemia |
Argininosuccinic aciduria | ASL | Argininosuccinic aciduria |
Aromatic L-amino acid decarboxylase deficiency | DDC | Aromatic L-amino acid decarboxylase deficiency |
Ataxia pancytopaenia syndrome | SAMD9L | Ataxia pancytopaenia syndrome |
Ataxia with vitamin E deficiency | TTPA | Ataxia with vitamin E deficiency |
Atransferrinaemia | TF | Atransferrinaemia |
Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia | AIRE | Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia |
Bamforth-Lazarus syndrome | FOXE1 | Bamforth-Lazarus syndrome |
Bare lymphocyte syndrome | CIITA | Bare lymphocyte syndrome, type II, complementation group A |
Bare lymphocyte syndrome | RFXANK | Bare lymphocyte syndrome, type II, complementation group B |
Bare lymphocyte syndrome | RFX5 | Bare lymphocyte syndrome, type II, complementation group C |
Bare lymphocyte syndrome | RFXAP | Bare lymphocyte syndrome, type II, complementation group D |
Barth Syndrome | TAFAZZIN | Barth Syndrome |
Bartter syndrome | SLC12A1 | Bartter syndrome, type 1 |
Bartter syndrome | KCNJ1 | Bartter syndrome, type 2 |
Bartter syndrome | MAGED2 | Bartter syndrome, type 5, antenatal, transient |
Bernard-Soulier syndrome | GP1BA | Bernard-Soulier syndrome, type A1 (recessive) |
Bernard-Soulier syndrome | GP1BB | Bernard-Soulier syndrome, type B |
Bernard-Soulier syndrome | GP9 | Bernard-Soulier syndrome, type C |
Beta Thalassaemia | HBB | Beta Thalassaemia |
Bile acid conjugation defect | BAAT | Bile acid conjugation defect 1 |
Biotinidase deficiency | BTD | Biotinidase deficiency |
Branched-chain ketoacid dehydrogenase kinase deficiency | BCKDK | Branched-chain ketoacid dehydrogenase kinase deficiency |
Carbamoyl phosphate synthetase I deficiency | CPS1 | Carbamoyl phosphate synthetase I deficiency |
Carnitine palmitoyltransferase I deficiency | CPT1A | Carnitine palmitoyltransferase I deficiency |
Carnitine palmitoyltransferase II deficiency infantile | CPT2 | Carnitine palmitoyltransferase II deficiency infantile |
Carnitine-acylcarnitine translocase deficiency | SLC25A20 | Carnitine-acylcarnitine translocase deficiency |
Catecholaminergic polymorphic ventricular tachycardia | TRDN | Cardiac arrhythmia syndrome, with or without skeletal muscle weakness |
Catecholaminergic polymorphic ventricular tachycardia | TECRL | Ventricular tachycardia, catecholaminergic polymorphic, 3 |
Catecholaminergic polymorphic ventricular tachycardia | CASQ2 | Ventricular tachycardia, catecholaminergic polymorphic, 2 |
Cerebral creatine deficiency syndrome | GAMT | Cerebral creatine deficiency syndrome 2 |
Cerebral creatine deficiency syndrome | GATM | Cerebral creatine deficiency syndrome 3 |
Cerebrotendinous xanthomatosis | CYP27A1 | Cerebrotendinous xanthomatosis |
Chediak-Higashi Syndrome | LYST | Chediak-Higashi Syndrome |
Chronic granulomatous disorder | CYBB | Chronic granulomatous disease x-linked |
Chronic granulomatous disorder | CYBA | Chronic granulomatous disease 4 |
Chronic granulomatous disorder | NCF2 | Chronic granulomatous disease 3 |
Chronic granulomatous disorder | NCF4 | Chronic granulomatous disease 2 |
Chronic granulomatous disorder | CYBC1 | Chronic granulomatous disease 5 |
Chylomicron retention disease | SAR1B | Chylomicron retention disease |
Citrullinaemia | ASS1 | Citrullinaemia |
Combined immunodeficiency and megaloblastic anaemia with or without hyperhomocysteinaemia | MTHFD1 | Combined immunodeficiency and megaloblastic anaemia with or without hyperhomocysteinaemia |
Combined pituitary hormone deficiency | PROP1 | Combined Pituitary hormone deficiency 2 |
Combined pituitary hormone deficiency | POU1F1 | Pituitary hormone deficiency, combined or isolated, 1, autosomal recessive |
Combined pituitary hormone deficiency | POU1F1 | Pituitary hormone deficiency, combined or isolated, 1, autosomal dominant |
Combined pituitary hormone deficiency | HESX1 | Pituitary hormone deficiency, combined, 5 |
Combined pituitary hormone deficiency | LHX3 | Pituitary hormone deficiency, combined, 3 |
Congenital adrenal hyperplasia | CYP17A1 | 17-alpha-hydroxylase/17,20-lyase deficiency |
Congenital adrenal hyperplasia | CYP21A2 *This gene meets our principles to be included, however it is not currently being analysed due to further internal work being required | Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
Congenital adrenal hyperplasia | CYP11B1 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency |
Congenital adrenal hyperplasia | HSD3B2 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency |
Congenital adrenal hypoplasia | NR0B1 | Adrenal hypoplasia, congenital |
Congenital adrenal insufficiency with 46XY DSD | CYP11A1 | Congenital adrenal insufficiency with 46XY DSD |
Congenital bile acid synthesis defect | HSD3B7 | Bile acid synthesis defect, congenital, 1 |
Congenital bile acid synthesis defect | AKR1D1 | Bile acid synthesis defect, congenital, 2 |
Congenital bile acid synthesis defect | CYP7B1 | Bile acid synthesis defect, congenital, 3 |
Congenital bile acid synthesis defect | AMACR | Bile acid synthesis defect, congenital, 4 |
Congenital diarrhoea | DGAT1 | Diarrhoea 7, protein-losing enteropathy type |
Congenital Diarrhoea | SLC26A3 | Diarrhoea 1, secretory chloride, congenital |
Congenital Diarrhoea | SLC9A3 | Diarrhoea 8, secretory sodium, congenital |
Congenital Diarrhoea | EPCAM | Diarrhoea 5, with tufting enteropathy, congenital |
Congenital Diarrhoea | SPINT2 | Diarrhoea 3, secretory sodium, congenital, syndromic |
Congenital diarrhoea | NEUROG3 | Diarrhoea 4, malabsorptive, congenital |
Congenital disorder of glycosylation, type It | PGM1 | Congenital disorder of glycosylation, type It |
Congenital erythropoietic porphyria | UROS | Congenital erythropoietic porphyria |
Congenital generalised lipodystrophy | AGPAT2 | Congenital generalized lipodystrophy type 1 |
Congenital generalised lipodystrophy | BSCL2 | Lipodystrophy, congenital generalized, type 2 |
Congenital generalised lipodystrophy | CAV1 | Lipodystrophy, congenital generalized, type 3 |
Congenital generalised lipodystrophy | CAVIN1 | Lipodystrophy, congenital generalized, type 4 |
Congenital hyperinsulinism | HADH | Familial hyperinsulinemic hypoglycemia-4 |
Congenital hyperinsulinism | ABCC8 | Hyperinsulinemic hypoglycemia, familial, 1 |
Congenital hyperinsulinism | KCNJ11 | Familial hyperinsulinemic hypoglycemia-2, autosomal recessive |
Congenital hypoaldosteronism | CYP11B2 | Hypoaldosteronism, congenital, due to CMO I deficiency |
Congenital hyperinsulinism | HK1 | HK1 related hyperinsulinism |
Congenital hyperinsulinism | PMM2 | Polycystic kidney disease with hyperinsulinemic hypoglycemia |
Congenital hyperinsulinism | GCK | Familial hyperinsulinemic hypoglycemia-3 |
Congenital hypothyroidism | DUOX2 | Thyroid dyshormonogenesis 6 |
Congenital hypothyroidism | DUOXA2 | Thyroid dyshormonogenesis 5 |
Congenital hypothyroidism | TPO | Thyroid dyshormonogenesis 2A |
Congenital hypothyroidism | TG | Thyroid dyshormonogenesis 3 |
Congenital hypothyroidism | SLC5A5 | Thyroid dyshormonigenesis 1 |
Congenital hypothyroidism | SLC26A7 | Thyroid dyshormonigenesis (no phenotype on OMIM) |
Congenital hypothyroidism | TSHR | Hypothyroidism, congenital, nongoitrous, 1 |
Congenital hypothyroidism | TRHR | Hypothyroidism, congenital, nongoitrous, 7 |
Congenital hypothyroidism | PAX8 | Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia |
Congenital hypothyroidism | IYD | Thyroid dyshormonogenesis 4 |
Congenital hypothyroidism | IGSF1 | Hypothyroidism, central, and testicular enlargement |
Congenital hypothyroidism | TBL1X | Hypothyroidism, congenital, nongoitrous, 8 |
Congenital hypothyroidism | IRS4 | Hypothyroidism, congenital, nongoitrous, 9 |
Congenital hypothyroidism | TSHB | Hypothyroidism, congenital, nongoitrous 4 |
Congenital Myasthenic Syndrome | CHRNE | Myasthenic syndrome, congenital, 4, autosomal recessive |
Congenital Myasthenic Syndrome | AGRN | Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects |
Congenital Myasthenic Syndrome | ALG14 | Myasthenic syndrome, congenital, 15, without tubular aggregates |
Congenital Myasthenic Syndrome | SYT2 | Congenital myasthenic syndrome 7, autosomal recessive |
Congenital Myasthenic Syndrome | CHAT | Congenital myasthenic syndrome-6 |
Congenital Myasthenic Syndrome | CHRNA1 | Congenital myasthenic syndrome-1, autosomal recessive |
Congenital Myasthenic Syndrome | CHRNB1 | Congenital myasthenic syndrome-2, autosomal recessive |
Congenital Myasthenic Syndrome | SYT2 | Congenital myasthenic syndrome 7, autosomal dominant |
Congenital Myasthenic Syndrome | CHRND | Congenital myasthenic syndrome-3, autosomal recessive |
Congenital Myasthenic Syndrome | COL13A1 | Congenital myasthenic syndrome-19 |
Congenital Myasthenic Syndrome | CHRNA1 | Congenital myasthenic syndrome-1, autosomal dominant |
Congenital Myasthenic Syndrome | COLQ | Congenital myasthenic syndrome-5 |
Congenital Myasthenic Syndrome | CHRNB1 | Congenital myasthenic syndrome-2, autosomal dominant |
Congenital Myasthenic Syndrome | DOK7 | Congenital myasthenic syndrome-10 |
Congenital Myasthenic Syndrome | CHRND | Congenital myasthenic syndrome-3, autosomal dominant |
Congenital Myasthenic Syndrome | DPAGT1 | Congenital myasthenic syndrome-13 |
Congenital Myasthenic Syndrome | ALG2 | Congenital myasthenic syndrome-14 |
Congenital Myasthenic Syndrome | GFPT1 | Congenital myasthenic syndrome-12 |
Congenital Myasthenic Syndrome | MUSK | Congenital myasthenic syndrome-9 |
Congenital Myasthenic Syndrome | PREPL | Congenital myasthenic syndrome-22 |
Congenital Myasthenic Syndrome | RAPSN | Congenital myasthenic syndrome-11 |
Congenital Myasthenic Syndrome | SLC18A3 | Congenital myasthenic syndrome-21 |
Congenital Myasthenic Syndrome | SLC25A1 | Congenital myasthenic syndrome-23 |
Congenital Myasthenic Syndrome | SLC5A7 | Congenital myasthenic syndrome-20 |
Congenital Myasthenic Syndrome | VAMP1 | Congenital myasthenic syndrome-25 |
Congenital Myasthenic Syndrome | SCN4A | Congenital myasthenic syndrome-16 |
Congenital prothrombin deficiency | F2 | Congenital Prothrombin deficiency |
Congenital sucrase-isomaltase deficiency | SI | Congenital sucrase-isomaltase deficiency |
Crigler-Najjar syndrome Type I | UGT1A1 | Crigler-Najjar syndrome Type I |
Cystic fibrosis | CFTR | Cystic fibrosis |
Cystinosis | CTNS | Cystinosis, nephropathic |
cytochrome P450 oxidoreductase deficiency | POR | cytochrome P450 oxidoreductase deficiency |
Conditions D-F
Condition group | Gene | Condition name (OMIM) |
Diabetes Insipidus | AVPR2 | Diabetes insipidus, nephrogenic, 1 |
Diabetes Insipidus | AQP2 | Recessive diabetes insipidus, nephrogenic, 2 |
Diabetes Insipidus | AQP2 | Dominant diabetes insipidus, nephrogenic, 2 |
Diabetes Insipidus | AVP | Diabetes insipidus, neurohypophyseal |
Diamond Blackfan Anaemia | RPS19 | Diamond blackfan anaemia 1 |
Diamond Blackfan Anaemia | RPL5 | Diamond blackfan anaemia 6 |
Diamond Blackfan Anaemia | RPL11 | Diamond-Blackfan anaemia 7 |
Diamond Blackfan Anaemia | RPS26 | Diamond-Blackfan anaemia 10 |
Diamond Blackfan Anaemia | RPL35A | Diamond-Blackfan anaemia 5 |
Diamond Blackfan Anaemia | RPS10 | Diamond-Blackfan anaemia 9 |
Diamond Blackfan Anaemia | RPS17 | Diamond-Blackfan anaemia 4 |
Diamond Blackfan Anaemia | RPS24 | Diamond-blackfan anaemia 3 |
Diamond Blackfan Anaemia | RPL15 | Diamond-Blackfan anaemia 12 |
Diamond Blackfan Anaemia | RPL31 | RPL31 associated Diamond-Blackfan anaemia |
Diamond Blackfan Anaemia | RPS7 | Diamond-Blackfan anaemia 8 |
Distal renal tubular acidosis | ATP6V0A4 | Distal renal tubular acidosis type 3 with or without sensorineural hearing loss |
Distal renal tubular acidosis | ATP6V1B1 | Distal renal tubular acidosis type 2 with progressive sensorineural hearing loss |
Distal renal tubular acidosis | SLC4A1 | Distal renal tubular acidosis type 4 with hemolytic anaemia, autosomal recessive |
Distal renal tubular acidosis | SLC4A1 | Distal renal tubular acidosis type 1, autosomal dominant |
DOCK8 Deficiency | DOCK8 | DOCK8 Deficiency |
Dopa responsive dystonia | TH | Dopa-responsive dystonia due to tyrosine hydroxylase defi- ciency |
Early infantile epileptic encephalopathy | SCN1A | Early infantile epileptic encephalopathy-6 |
Early infantile epileptic encephalopathy | SCN2A | Early infantile epileptic encephalopathy-11 |
Early infantile epileptic encephalopathy | SCN8A | Early infantile epileptic encephalopathy-13 |
Early infantile epileptic encephalopathy | KCNQ2 *This gene meets our principles to be included, however it is not currently being analysed due to further internal work being required | Early infantile epileptic encephalopathy-7 |
Early onset osteoporosis | PLS3 | Bone mineral density QTL18, osteoporosis |
Ectodermal dysplasia and immunodeficiency 2 | NFKBIA | Ectodermal dysplasia and immunodeficiency 2 |
Erythropoietic protoporphyria | FECH | Protoporphyria, erythropoietic, 1 |
Erythropoietic protoporphyria | ALAS2 | Protoporphyria, erythropoietic, X-linked |
Factor V deficiency | F5 | Factor V deficiency |
Factor VII deficiency | F7 | Factor VII deficiency |
Factor X deficiency | F10 | Factor X deficiency |
Factor XIII Deficiency | F13A1 | Factor XIIIA deficiency |
Factor XIII Deficiency | F13B | Factor XIIIB deficiency |
Familial Chylomicronaemia Syndrome | LPL | Lipoprotein lipase deficiency |
Familial Chylomicronaemia Syndrome | APOC2 | Hyperlipoproteinemia, type Ib |
Familial Chylomicronaemia Syndrome | LMF1 | Lipase deficiency, combined |
Familial Chylomicronaemia Syndrome | APOA5 | apolipoprotein A-V deficiency |
Familial Chylomicronaemia Syndrome | GPIHBP1 | Hyperlipoproteinemia, type 1D |
Familial Haemophagocytic lymphohistiocytosis | PRF1 | Haemophagocytic lymphohistiocytosis, familial, 2 |
Familial Haemophagocytic lymphohistiocytosis | UNC13D | Haemophagocytic lymphohistiocytosis, familial, 3 |
Familial Haemophagocytic lymphohistiocytosis | STX11 | Haemophagocytic lymphohistiocytosis, familial, 4 |
Familial Haemophagocytic lymphohistiocytosis | STXBP2 | Familial haemophagocytic lymphohistiocytosis-5 |
Familial hyperphosphataemic tumoral calcinosis | GALNT3 | Tumoral calcinosis, hyperphosphatemic, familial, 1 |
Familial hyperphosphataemic tumoral calcinosis | FGF23 | Tumoral calcinosis, hyperphosphatemic, familial, 2 |
Familial isolated hypoparathyroidism | GCM2 | familial isolated hypoparathyroidism 2, Autosomal Recessive |
Familial Mediterranean fever | MEFV | Familial Mediterranean fever, Autosomal recessive |
Familial thrombotic thrombocytopenic purpura | ADAMTS13 | Familial thrombotic thrombocytopenic purpura |
Fructose-1,6-bisphosphatase deficiency | FBP1 | Fructose-1,6-bisphosphatase deficiency |
Conditions G-I
Condition group | Gene | Condition name (OMIM) |
Galactokinase deficiency with cataracts | GALK1 | Galactokinase deficiency with cataracts |
Galactosaemia | GALT | Galactosaemia |
Gastrointestinal defects and immunodeficiency syndrome | TTC7A | Gastrointestinal defects and immunodeficiency syndrome |
Generalised arterial calcification of infancy | ENPP1 | Arterial calcification, generalized, of infancy, 1 |
Generalised arterial calcification of infancy | ABCC6 | Generalized arterial calcification of infancy 2 |
Glanzmann thrombasthenia | ITGA2B | Glanzmann thrombasthenia 1 |
Glanzmann thrombasthenia | ITGB3 | Glanzmann thrombasthenia 2 |
Glucocorticoid deficiency | MC2R | MC2R familial glucocorticoid deficiency |
Glucocorticoid deficiency | MRAP | MRAP familial glucocorticoid deficiency type 2 |
Glucocorticoid deficiency | NNT | Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency |
Glucose/galactose malabsorption | SLC5A1 | Glucose/galactose malabsorption |
GLUT1 deficiency syndrome | SLC2A1 | GLUT1 deficiency syndrome-1, Autosomal Recessive |
GLUT1 deficiency syndrome | SLC2A1 | GLUT1 deficiency syndrome-1, Autosomal Dominant |
Glutaric aciduria type I | GCDH | Glutaric aciduria, type I |
Glycogen storage disease II (Pompe Disease) | GAA | Glycogen storage disease II |
Glycogen storage disease type I | G6PC1 | Glycogen storage disease Ia |
Glycogen storage disease type I | SLC37A4 | Glycogen storage disease Ib and 1c |
Glycogen storage disease type III | AGL | Glycogen storage disease III |
Griscelli Syndrome | RAB27A | Griscelli syndrome, type 2 |
Growth hormone receptor deficiency | GHR | Growth hormone receptor deficiency |
Growth hormone-secreting pituitary adenoma-2 | GPR101 | Growth hormone-secreting pituitary adenoma-2 |
Haemophilia A | F8 | Haemophilia A |
Haemophilia B | F9 | Haemophilia B |
Hepatic venoocclusive disease with immunodeficiency | SP110 | Hepatic venoocclusive disease with immunodeficiency |
Hepatoerythropoietic porphyria | UROD | Porphyria, hepatoerythropoietic |
Hereditary angioedema | SERPING1 | Hereditary angioedema, autosomal recessive |
Hereditary angioedema | SERPING1 | Hereditary angioedema, autosomal dominant |
Hereditary folate malabsorption | SLC46A1 | Hereditary folate malabsorption |
Hereditary fructose intolerance | ALDOB | Hereditary fructose intolerance |
Heritable Retinoblastoma | RB1 | Retinoblastoma |
Hermansky-Pudlak syndrome | AP3B1 | Hermansky-Pudlak syndrome 2 |
Hermansky-Pudlak syndrome | AP3D1 | Hermansky-Pudlak syndrome 10 |
HMG-CoA lyase deficiency | HMGCL | HMG-CoA lyase deficiency |
HMG-CoA synthase-2 deficiency | HMGCS2 | HMG-CoA synthase-2 deficiency |
Holocarboxylase synthetase deficiency | HLCS | Holocarboxylase synthetase deficiency |
Homocystinuria | CBS | Homocystinuria, B6-responsive and nonresponsive types |
Homocystinuria-megaloblastic anaemia | MTRR | Homocystinuria-megaloblastic anaemia, cbl E type |
Homocystinuria-megaloblastic anaemia | MTR | Homocystinuria-megaloblastic anaemia, cblG complementation type |
Homozygous Familial hypercholesterolaemia | LDLR | Homozygous Familial hypercholesterolemia-1 |
Homozygous Familial hypercholesterolaemia | LDLRAP1 | Homozygous Familial hypercholesterolaemia-4 |
Homozygous Familial hypercholesterolaemia | APOB | Hypercholesterolaemia, familial, 2 autosomal recessive |
Homozygous Familial hypercholesterolaemia | PCSK9 | Familial hypercholesterolaemia-3 Autosomal Recessive |
Homozygous Variegate Porphyria | PPOX | Homozygous Variegate Porphyria |
Hyperinsulinism-hyperammonaemia syndrome | GLUD1 | Hyperinsulinism-hyperammonaemia syndrome |
Hypermanganesaemia with dystonia | SLC30A10 | Hypermanganesaemia with dystonia 1 |
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome | SLC25A15 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
Hyperphenyalaninaemia | PTS | Hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency |
Hyperphenyalaninaemia | QDPR | Hyperphenylalaninemia due to dihydropteridine reductase deficiency |
Hypobetalipoproteinaemia | APOB | Hypobetalipoproteinaemia |
Hypohidrotic ectodermal dysplasia | EDA | Ectodermal dysplasia 1, hypohidrotic, X-linked |
Hypohidrotic ectodermal dysplasia | EDAR | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
Hypohidrotic ectodermal dysplasia | EDARADD | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive |
Hypohidrotic ectodermal dysplasia | EDAR | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
Hypohidrotic ectodermal dysplasia | EDARADD | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant |
Hypophosphataemic rickets | PHEX | Hypophosphatemic rickets, X-linked dominant |
Hypophosphataemic rickets | SLC34A3 | Hypophosphatemic rickets with hypercalciuria |
Hypophosphataemic rickets | DMP1 | Hypophosphatemic rickets, AR |
Hypophosphataemic rickets | FGF23 | Hypophosphatemic rickets, autosomal dominant |
Hypophosphatasia | ALPL | Autosomal recessive hypophosphatasia |
IMAGE syndrome | CDKN1C | IMAGE syndrome |
IMAGE-I syndrome | POLE | IMAGE-I syndrome |
Imerslund-Grasbeck syndrome | CUBN | Imerslund-Grasbeck syndrome 1 |
Imerslund-Grasbeck syndrome | AMN | Imerslund-Grasbeck syndrome 2 |
Immune dysregulation | SH2D1A | X-linked Immune dysregulation 1 |
Immune dysregulation | XIAP | X-linked Immune dysregulation 2 |
Immune dysregulation | ITK | ITK related Immune dysregulation 1 |
Immune dysregulation | CD70 | Immune dysregulation 3 |
Immunodeficiency | STAT1 | Immunodeficiency 31B |
Immunodeficiency | LCK | immunodeficiency 22 |
Immunodeficiency | FOXN1 | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
Immunodeficiency | PNP | Immunodeficiency due to purine nucleoside phosphorylase deficiency |
Immunodeficiency | PRKDC | Immunodeficiency 26, with or without neurologic abnormalities |
Immunodeficiency | LAT | Immunodeficiency 52 |
Immunodeficiency | DOCK2 | Immunodeficiency 40 |
Immunodeficiency | IFNGR1 | Immunodeficiency 27A, mycobacteriosis, Autosomal dominant |
Immunodeficiency | IFNGR1 | Immunodeficiency 27A, mycobacteriosis, autosomal recessive |
Immunodeficiency | IFNGR2 | Immunodeficiency 28, mycobacteriosis |
Immunodeficiency | RAC2 | Immunodeficiency 73B |
Immunodeficiency | FCHO1 | Immunodeficiency 76 |
Immunodeficiency | IKBKB | Immunodeficiency 15B |
Immunodeficiency | CTPS1 | Immunodeficiency 24 |
Immunodeficiency | IRAK4 | IRAK4 deficiency |
Immunodeficiency | MYD88 | Immunodeficiency 68 |
Immunodeficiency | STK4 | STK4 associated T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations |
Immunodeficiency | LIG1 | LIG1 associated immunodeficiency |
Immunodeficiency | MAGT1 | X-linked Immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
Immunodeficiency | RASGRP1 | Immunodeficiency 64 |
Immunodeficiency | IRF8 | Immunodeficiency 32B |
Immunodeficiency | MCM4 | Immunodeficiency 54 |
Immunodeficiency | ARPC1B | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
Immunodeficiency with hyper-IgM | CD40 | Immunodeficiency with hyper-IgM, type 3 |
Immunodeficiency with hyper-IgM | CD40LG | X-linked immunodeficiency with hyper-IgM type 1 |
Immunodeficiency with lymphoproliferation and autoimmunity | IL2RA | Immunodeficiency 41 with lymphoproliferation and autoimmunity |
Immunodeficiency with lymphoproliferation and autoimmunity | IL2RB | Immunodeficiency 63 with lymphoproliferation and autoimmunity |
Immunodeficiency-centromeric instability-facial anomalies syndrome | DNMT3B | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 |
Immunodeficiency-centromeric instability-facial anomalies syndrome | ZBTB24 | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
Immunodeficiency-centromeric instability-facial anomalies syndrome | CDCA7 | Immunodeficiency-centromeric instability-facial anomalies syndrome 3 |
Immunodeficiency-centromeric instability-facial anomalies syndrome | HELLS | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 |
Insulin-like growth factor I deficiency | IGF1 | Insulin-like growth factor I deficiency |
Intestinal hypomagnesaemia | TRPM6 | Hypomagnesemia 1, intestinal |
Intrinsic factor deficiency | CBLIF | Intrinsic factor deficiency |
Isolated growth hormone deficiency | GH1 | Isolated growth hormone deficiency type 1A, autosomal recessive |
Isolated growth hormone deficiency | GH1 | Isolated growth hormone deficiency type 1B, autosomal recessive |
Isolated growth hormone deficiency | GH1 | Isolated growth hormone deficiency type II, autosomal dominant |
Isolated growth hormone deficiency | GHRHR | Isolated growth hormone deficiency type 4 |
Isolated growth hormone deficiency | RNPC3 | RNPC3 associated growth hormone deficiency |
Isolated methylmalonic acidaemia | MMUT | Methylmalonic acidemia, mut(0) type |
Isolated methylmalonic acidaemia | MCEE | Methylmalonyl-CoA epimerase deficiency |
Isolated methylmalonic acidaemia | MMAA | Methylmalonic aciduria, vitamin B12-responsive, cblA type |
Isolated methylmalonic acidaemia | MMAB | Methylmalonic aciduria, vitamin B12-responsive, cblB type |
Isolated methylmalonic acidaemia | MMADHC | Methylmalonic aciduria, cblD type, variant 2 |
Isovaleric acidaemia | IVD | Isovaleric acidaemia |
Conditions J-L
Condition group | Gene | Condition name (OMIM) |
Jervell and Lange-Nielsen syndrome | KCNQ1 | Jervell and Lange-Nielsen syndrome |
Kenny-Caffey syndrome, type 2 | FAM111A | Kenny-Caffey syndrome, type 2 |
Leptin deficiency | LEP | Leptin deficiency |
Leptin receptor deficiency | LEPR | Leptin receptor deficiency |
Leukocyte adhesion deficiency | FERMT3 | Leukocyte adhesion deficiency, type III |
Leukocyte adhesion deficiency | ITGB2 | Leukocyte adhesion deficiency, type I |
LIG4 Syndrome | LIG4 | LIG4 Syndrome |
Lipoid adrenal hyperplasia | STAR | STAR deficiency (congenital lipoid hyperplasia) |
Long Chain Hydroxyacyl CoA Dehydrogenase Deficiency, LCHAD | HADHA | LCHAD deficiency |
Long QT syndrome | KCNQ1 | Long QT Syndrome 1 |
Long QT syndrome | KCNH2 | Long QT Syndrome 2 |
Long QT syndrome | SCN5A | Long QT Syndrome 3 |
Lysinuric protein intolerance | SLC7A7 | Lysinuric protein intolerance |
Conditions M-O
Condition group | Gene | Condition name (OMIM) |
Maple Syrup Urine Disease | DBT | Maple syrup urine disease, type II |
Maple Syrup Urine Disease | BCKDHA | Maple syrup urine disease, type Ia |
Maple Syrup Urine Disease | BCKDHB | Maple syrup urine disease, type Ib |
Mannose Phosphate Isomerase (MPI) - Congenital Disorders of Glycosylation | MPI | Mannose Phosphate Isomerase (MPI) - Congenital Disorders of Glycosylation |
Medium-chain acyl-CoA dehydrogenase deficiency | ACADM | Medium-chain acyl-CoA dehydrogenase deficiency |
Megaloblastic anaemia | SLC19A1 | Folate dependent megaloblastic anaemia |
Megaloblastic anaemia | SLC19A2 | Thiamine Repsonsive Megaloblastic Anaemia Syndrome |
Megaloblastic anaemia | DHFR | Megaloblastic anaemia due to dihydrofolate reductase deficiency |
Metachromatic leukodystrophy | ARSA | Metachromatic leukodystrophy |
Methylenetetrahydrofolate Reductase Deficiency | MTHFR | Homocystinuria due to MTHFR deficiency |
Methylmalonic acidaemia and homocystinuria | MMADHC | Methylmalonic aciduria and homocystinuria, cblD type |
Methylmalonic acidaemia and homocystinuria | MMACHC | Methylmalonic aciduria and homocystinuria, cblC type |
Methylmalonic acidaemia and homocystinuria | LMBRD1 | Methylmalonic aciduria and homocystinuria, cblF type |
Mevalonate kinase deficiency | MVK | Hyper-IgD syndrome / mevalonate kinase deficiency |
MIRAGE syndrome | SAMD9 | MIRAGE syndrome |
Mucopolysaccharidosis Type I | IDUA | Mucopolysaccharidosis Type I |
Mucopolysaccharidosis Type II | IDS | Mucopolysaccharidosis Type II |
Mucopolysaccharidosis Type IVA | GALNS | Mucopolysaccharidosis Type IVA |
Mucopolysaccharidosis Type VI | ARSB | Mucopolysaccharidosis Type VI |
Multiple Acyl-CoA Dehydrogenase Deficiency | ETFA | Glutaric acidaemia type IIA |
Multiple Acyl-CoA Dehydrogenase Deficiency | ETFB | Glutaric acidaemia type IIB |
Multiple Acyl-CoA Dehydrogenase Deficiency | ETFDH | Glutaric acidaemia type IIC |
N-acetylglutamate synthase deficiency | NAGS | N-acetylglutamate synthase deficiency |
Neonatal diabetes | GCK | Diabetes mellitus, permanent neonatal 1 |
Neonatal diabetes | INS | Autosomal recessive diabetes mellitus, permanent neonatal 4 |
Neonatal diabetes | ABCC8 | Diabetes mellitus, permanent neonatal 3, with or without neurologic features, autosomal recessive |
Neonatal diabetes | KCNJ11 | Diabetes, permanent neonatal 2, with or without neurologic features |
Neonatal diabetes | GLIS3 | Diabetes mellitus, neonatal, with congenital hypothyroidism |
Neonatal diabetes | INS | Autosomal dominant diabetes mellitus, permanent neonatal 4 |
Neonatal diabetes | NEUROD1 | NEUROD1 related autosomal recessive neonatal diabetes |
Neonatal hyperparathyroidism | CASR | Neonatal hyperparathyroidism, Autosomal Recessive |
Neonatal hyperparathyroidism | CASR | Neonatal hyperparathyroidism, Autosomal Dominant |
Nephrotic syndrome with or without adrenal insufficency | SGPL1 | Nephrotic syndrome, type 14 |
Neurodegeneration due to cerebral folate transport deficiency | FOLR1 | Neurodegeneration due to cerebral folate transport deficiency |
Neuronal ceroid lipofuscinosis | TPP1 | Ceroid lipofuscinosis, neuronal, 2 |
Nijmegen breakage syndrome | NBN | Nijmegen breakage syndrome |
OAS1 associated polymorphic autoinflammatory immunodeficiency | OAS1 | OAS1 related polymorphic autoinflammatory immunodeficiency |
Ornithine transcarbamylase deficiency | OTC | Ornithine transcarbamylase deficiency |
Osteogenesis Imperfecta | COL1A1 | COL1A1 related Osteogenesis Imperfecta |
Osteogenesis Imperfecta | COL1A2 | COL1A2 related Osteogenesis Imperfecta |
Osteogenesis Imperfecta | IFITM5 | Osteogenesis Imperfecta type V |
Osteopetrosis | TCIRG1 | Osteopetrosis type 1 |
Osteopetrosis | CLCN7 | Osteopetrosis type 4, autosomal recessive |
Osteopetrosis | TNFRSF11A | Osteopetrosis type 7 |
Osteopetrosis | SNX10 | Osteopetrosis type 8 |
Osteopetrosis | CLCN7 | Osteopetrosis type 4, autosomal dominant |
Osteopetrosis | CA2 | Osteopetrosis with renal tubular acidosis |
Osteoporosis-pseudoglioma syndrome | LRP5 | Osteoporosis-pseudoglioma syndrome |
OTOF related deafness | OTOF | Auditory neuropathy, autosomal recessive, 1 |
Otofaciocervical syndrome | PAX1 | Otofaciocervical syndrome 2 |
Conditions P-R
Condition group | Gene | Condition name (OMIM) |
Pancreatic agenesis | PTF1A | Pancreatic agenesis 2 |
Periodic fever syndrome | TNFRSF1A | Tumor necrosis factor receptor associated periodic fever syndrome |
Periodic fever syndrome | NLRP3 | Cryopyrin associated periodic fever syndrome |
Phenylketonuria | PAH | Phenylketonuria |
POMC deficiency | POMC | Obesity, adrenal insufficiency, and red hair due to POMC deficiency |
Primary Ciliary Dyskinesia | DNAH5 | Primary Ciliary Dyskinesia 3 |
Primary Ciliary Dyskinesia | CCDC39 | Primary Ciliary Dyskinesia 14 |
Primary Ciliary Dyskinesia | DNAH11 | Primary Ciliary Dyskinesia 15 |
Primary Ciliary Dyskinesia | CCDC40 | Primary Ciliary Dyskinesia 7 |
Primary Ciliary Dyskinesia | DNAI1 | Primary Ciliary Dyskinesia 1 |
Primary Ciliary Dyskinesia | SPAG1 | Primary Ciliary Dyskinesia 28 |
Primary Ciliary Dyskinesia | ODAD2 | Ciliary dyskinesia, primary, 23 |
Primary Ciliary Dyskinesia | CCDC103 | Ciliary dyskinesia, primary, 17 |
Primary Ciliary Dyskinesia | ODAD3 | Ciliary dyskinesia, primary, 30 |
Primary Ciliary Dyskinesia | CCNO | primary ciliary dyskinesia 29 |
Primary Ciliary Dyskinesia | CFAP300 | ciliary dyskinesia, primary, 38 |
Primary Ciliary Dyskinesia | DNAAF3 | primary ciliary dyskinesia 2 |
Primary Ciliary Dyskinesia | DNAI2 | primary ciliary dyskinesia 9 |
Primary Ciliary Dyskinesia | FOXJ1 | ciliary dyskinesia, primary, 43 |
Primary Ciliary Dyskinesia | HYDIN | primary ciliary dyskinesia 5 |
Primary Ciliary Dyskinesia | MCIDAS | ciliary dyskinesia, primary, 42 |
Primary Ciliary Dyskinesia | ODAD1 | primary ciliary dyskinesia 20 |
Primary Ciliary Dyskinesia | ODAD4 | primary ciliary dyskinesia 35 |
Primary Ciliary Dyskinesia | RSPH1 | primary ciliary dyskinesia 24 |
Primary Ciliary Dyskinesia | RSPH3 | Ciliary dyskinesia, primary, 32 |
Primary Ciliary Dyskinesia | RSPH4A | primary ciliary dyskinesia 11 |
Primary Ciliary Dyskinesia | RSPH9 | Ciliary dyskinesia, primary, 12 |
Primary Ciliary Dyskinesia | ZMYND10 | primary ciliary dyskinesia 22 |
Primary Ciliary Dyskinesia | CFAP298 | Ciliary dyskinesia, primary, 26 |
Primary Ciliary Dyskinesia | CCDC65 | Ciliary dyskinesia, primary, 27 |
Primary Ciliary Dyskinesia | DNAAF1 | Ciliary dyskinesia, primary, 13 |
Primary Ciliary Dyskinesia | DNAAF11 | Ciliary dyskinesia, primary, 19 |
Primary Ciliary Dyskinesia | DNAAF2 | Ciliary dyskinesia, primary, 10 |
Primary Ciliary Dyskinesia | DNAAF4 | Ciliary dyskinesia, primary, 25 |
Primary Ciliary Dyskinesia | DNAAF5 | Ciliary dyskinesia, primary, 18 |
Primary Ciliary Dyskinesia | DNAH9 | Ciliary dyskinesia, primary, 40 |
Primary Ciliary Dyskinesia | DRC1 | Ciliary dyskinesia, primary, 21 |
Primary Ciliary Dyskinesia | GAS8 | Ciliary dyskinesia, primary, 33 |
Primary coenzyme Q10 deficiency | COQ4 | COQ4 related primary coenzyme Q10 deficiency |
Primary coenzyme Q10 deficiency | COQ6 | COQ6 related primary coenzyme Q10 deficiency |
Primary coenzyme Q10 deficiency | COQ8B | COQ8B related primary coenzyme Q10 deficiency with nephrotic syndrome |
Primary coenzyme Q10 deficiency | COQ2 | COQ2 related primary coenzyme Q10 deficiency |
Primary hyperoxaluria type I | AGXT | Hyperoxaluria, primary, type 1 |
Primary hyperoxaluria type II | GRHPR | Hyperoxaluria, primary, type II |
Primary hyperoxaluria type III | HOGA1 | Hyperoxaluria, primary, type III |
Primary systemic carnitine deficiency | SLC22A5 | Primary systemic carnitine deficiency |
Properdin deficiency | CFP | Properdin deficiency, X-linked |
Propionic acidaemia | PCCA | Propionic acidemia 1 |
Propionic acidaemia | PCCB | Propionic acidemia 2 |
Pseudohypoaldosteronism | SCNN1A | SCNN1A related pseudohypoaldosteronism Type 1A |
Pseudohypoaldosteronism | SCNN1B | SCNN1B related pseudohypoaldosteronism Type 1A |
Pseudohypoaldosteronism | SCNN1G | SCNN1G related pseudohypoaldosteronism Type 1A |
Pseudohypoaldosteronism | NR3C2 | Pseudohypoaldosteronism type I, autosomal dominant |
Pseudohypoaldosteronism | KLHL3 | Pseudohypoaldosteronism, type IID, autosomal recessive |
Pseudohypoaldosteronism | KLHL3 | Pseudohypoaldosteronism, type IID, autosomal dominant |
Pseudohypoaldosteronism | WNK1 | Pseudohypoaldosteronism, type IIC |
Pseudohypoaldosteronism | CUL3 | Pseudohypoaldosteronism, type IIE |
PSTPIP1 related inflammatory disease | PSTPIP1 | PSTPIP1 associated inflammatory disease |
Pyridoxamine 5-prime-phosphate oxidase deficiency | PNPO | Pyridoxamine 5’-phosphate oxidase deficiency |
Pyridoxine dependent epilepsy | ALDH7A1 | Pyridoxine dependent epilepsy |
Pyruvate kinase deficiency | PKLR | Pyruvate kinase deficiency |
Riboflavin transporter deficiency | SLC52A3 | Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome 1) |
Riboflavin transporter deficiency | SLC52A2 | Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome 2) |
RPE65 related Leber congenital amaurosis/early-onset severe retinal dystrophy | RPE65 | RPE65 associated Leber congenital amaurosis, early-onset severe retinal dystrophy |
Conditions S-U
Condition group | Gene | Condition name (OMIM) |
SCID | AK2 | Reticular Dysgenesis |
SCID | ADA | Severe combined immunodeficiency due to ADA deficiency |
SCID | IL2RG | SCID X-Linked |
SCID | JAK3 | JAK3 related T cell-negative, B cell-positive, natural killer cell-negative severe combined immunodeficiency |
SCID | NHEJ1 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation |
SCID | IL7R | Immunodeficiency 104, severe combined |
SCID | PTPRC | Immunodeficiency 105, severe combined |
SCID | RAG1 | RAG1 related severe combined immunodeficiency, B cell-negative |
SCID | RAG2 | RAG2 related severe combined immunodeficiency, B cell-negative |
SCID | DCLRE1C | Severe combined immunodeficiency with sensitivity to ionising radiation |
SCID | ZAP70 | Immunodeficiency 48, severe combined |
SCID | CORO1A | Immunodeficiency 8 |
SCID | CD247 | Immunodeficiency 25, severe combined |
SCID | CD3D | Immunodeficiency 19, severe combined |
SCID | CD3E | Immunodeficiency 18 |
SCID | CD3G | Immunodeficiency 17, CD3 gamma deficient |
SCOT deficiency | OXCT1 | Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency |
Shwachman-Diamond syndrome | SBDS | Shwachman-Diamond syndrome 1 |
Shwachman-Diamond syndrome | EFL1 | Shwachman-Diamond syndrome 2 |
Shwachman-Diamond syndrome | DNAJC21 | DNAJC21 related Shwachman-Diamond syndrome |
Shwachman-Diamond syndrome | SRP54 | SRP54 related Shwachman-Diamond syndrome |
Sickle Cell Disease | HBB | Sickle Cell Disease |
Specific complement deficiency | CFB | Complement factor B deficiency |
Specific complement deficiency | CFH | Complement factor H deficiency Autosomal recessive |
Specific complement deficiency | CFH | Complement factor H deficiency, autosomal dominant |
Specific complement deficiency | CFI | Complement factor I deficiency |
Specific complement deficiency | C3 | C3 deficiency |
Specific complement deficiency | C2 | C2 deficiency |
Specific complement deficiency | C5 | C5 deficiency |
Specific complement deficiency | C7 | C7 deficiency |
Specific complement deficiency | C8A | C8 deficiency, type I |
Specific complement deficiency | C8B | C8 deficiency, type II |
Specific complement deficiency | C6 | C6 deficiency |
Specific complement deficiency | C9 | C9 deficiency |
Specific complement deficiency | CFD | Complement factor D deficiency |
Specific granule deficiency | SMARCD2 | Specific granule deficiency 2 |
Specific granule deficiency | CEBPE | Specific granule deficiency 1 |
Spinal muscular atrophy | SMN1 | Spinal Muscular Atrophy |
Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | SLC19A3 | Biotin- or thiamine-responsive encephalopathy type 2 caused by SLC19A3 thiamine transporter deficiency |
Thiamine metabolism dysfunction syndrome 5 | TPK1 | Thiamine Pyrophosphokinase Deficiency |
Thyroid hormone resistance | THRA | Resistance to thyroid hormone alpha (OMIM: Hypothyroidism, congenital, nongoitrous, 6) |
Thyroid hormone resistance | THRB | Thyroid hormone resistance, autosomal dominant |
Thyroid hormone resistance | THRB | Thyroid hormone resistance, autosomal recessive |
Transcobalamin II deficiency | TCN2 | Transcobalamin II deficiency |
Trichohepatoenteric syndrome | SKIC3 | Trichohepatoenteric syndrome 1 |
Trichohepatoenteric syndrome | SKIC2 | Trichohepatoenteric syndrome 2 |
Trifunctional protein deficiency | HADHB | Mitochondrial trifunctional protein deficiency 2 |
Tyrosinaemia, type I | FAH | Tyrosinemia, type I |
Tyrosinaemia, type II | TAT | Tyrosinemia, type II |
Uridine-responsive epileptic encephalopathy | CAD | Uridine-responsive epileptic encephalopathy |
Conditions V-X
Condition group | Gene | Condition name (OMIM) |
Very early onset inflammatory bowel disease | IL10 | Interleukin-10 deficiency |
Very early onset inflammatory bowel disease | IL10RB | Inflammatory bowel disease 25 |
Very early onset inflammatory bowel disease | IL10RA | Inflammatory bowel disease 28 |
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency | ACADVL | VLCAD deficiency |
Vitamin B6-dependent epilepsy | PLPBP | Vitamin B6-dependent epilepsy |
Vitamin D dependent rickets | CYP27B1 | Vitamin D-dependent rickets, type I |
Vitamin D dependent rickets | CYP2R1 | Rickets due to defect in vitamin D 25-hydroxylation deficiency |
Vitamin D resistant rickets | VDR | Rickets, vitamin D-resistant, type IIA |
Wilms Tumour predisposition syndrome | WT1 | Wilms Tumour type 1/ Denys-Drash syndrome |
Wilms Tumour predisposition syndrome | REST | Wilms tumour predisposition |
Wilms Tumour predisposition syndrome | TRIM28 | TRIM28 related Wilms tumour predisposition |
Wiskott Aldrich syndrome | WAS | Wiskott Aldrich syndrome |
Wolcot-Rallison syndrome | EIF2AK3 | multiple epiphyseal dysplasia with early onset diabetes mellitus, Wolcot-Rallison syndrome |
Xeroderma pigmentosum | DDB2 | Xeroderma pigmentosum, group E, DDB-negative subtype |
Xeroderma pigmentosum | ERCC2 | Xeroderma pigmentosum, group D |
Xeroderma pigmentosum | ERCC3 | Xeroderma pigmentosum, group B |
Xeroderma pigmentosum | ERCC4 | Xeroderma pigmentosum, group F |
Xeroderma pigmentosum | ERCC5 | Xeroderma pigmentosum, group G |
Xeroderma pigmentosum | POLH | Xeroderma pigmentosum, variant type |
Xeroderma pigmentosum | XPA | Xeroderma pigmentosum, group A |
Xeroderma pigmentosum | XPC | Xeroderma pigmentosum, group C |
X-linked immunodysregulation, polyendocrinopathy, and enteropathy | FOXP3 | X-linked immunodysregulation, polyendocrinopathy, and enteropathy |
Conditions A-C
Condition group | Gene | Condition name (OMIM) |
Abetalipoproteinaemia | MTTP | Abetalipoproteinaemia |
Achalasia-addisonianism-alacrimia syndrome | AAAS | Achalasia-addisonianism-alacrimia syndrome |
Acrodermatitis enteropathica | SLC39A4 | Acrodermatitis enteropathica |
Adenine phosphoribosyltransferase deficiency | APRT | Adenine phosphoribosyltransferase deficiency |
Adenosine deaminase 2 deficiency | ADA2 | Deficiency of ADA2 (DADA2) |
Adrenocorticotropic hormone deficiency | TBX19 | Adrenocorticotropic hormone deficiency |
Adrenoleukodystrophy | ABCD1 | Adrenoleukodystrophy |
Afibrinogenaemia | FGA | FGA related afibrinogenaemia |
Afibrinogenaemia | FGB | FGA related afibrinogenaemia |
Afibrinogenaemia | FGG | FGA related afibrinogenaemia |
Agammaglobulinaemia | BTK | X-linked Agammaglobulinaemia |
Agammaglobulinaemia | IGHM | Agammaglobulinaemia 1 |
Agammaglobulinaemia | IGLL1 | Agammaglobulinaemia 2 |
Agammaglobulinaemia | CD79A | Agammaglobulinaemia 3 |
Agammaglobulinaemia | CD79B | Agammaglobulinaemia 6 |
Agammaglobulinaemia | BLNK | Agammaglobulinaemia 4 |
Agammaglobulinaemia | PIK3R1 | Agammaglobulinaemia 7 |
Agammaglobulinaemia | TCF3 | Agammaglobulinaemia 8, autosomal recessive |
Agammaglobulinaemia | TCF3 | Agammaglobulinaemia 8, autosomal dominant |
Agammaglobulinaemia | SLC39A7 | SLC39A7 associated Agammaglobulinaemia |
Alpha-methylacetoacetic aciduria | ACAT1 | Alpha-methylacetoacetic aciduria |
Alport syndrome | COL4A5 | COL4A5 related X-linked Alport Syndrome |
Alport syndrome | COL4A4 | COL4A4 related autosomal recessive Alport Syndrome |
Alport syndrome | COL4A3 | COL4A3 related autosomal recessive Alport Syndrome |
Apparent mineralocorticoid excess | HSD11B2 | Apparent mineralocorticoid excess |
Arginase deficiency | ARG1 | Argininaemia |
Argininosuccinic aciduria | ASL | Argininosuccinic aciduria |
Aromatic L-amino acid decarboxylase deficiency | DDC | Aromatic L-amino acid decarboxylase deficiency |
Ataxia pancytopaenia syndrome | SAMD9L | Ataxia pancytopaenia syndrome |
Ataxia with vitamin E deficiency | TTPA | Ataxia with vitamin E deficiency |
Atransferrinaemia | TF | Atransferrinaemia |
Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia | AIRE | Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia |
Bamforth-Lazarus syndrome | FOXE1 | Bamforth-Lazarus syndrome |
Bare lymphocyte syndrome | CIITA | Bare lymphocyte syndrome, type II, complementation group A |
Bare lymphocyte syndrome | RFXANK | Bare lymphocyte syndrome, type II, complementation group B |
Bare lymphocyte syndrome | RFX5 | Bare lymphocyte syndrome, type II, complementation group C |
Bare lymphocyte syndrome | RFXAP | Bare lymphocyte syndrome, type II, complementation group D |
Barth Syndrome | TAFAZZIN | Barth Syndrome |
Bartter syndrome | SLC12A1 | Bartter syndrome, type 1 |
Bartter syndrome | KCNJ1 | Bartter syndrome, type 2 |
Bartter syndrome | MAGED2 | Bartter syndrome, type 5, antenatal, transient |
Bernard-Soulier syndrome | GP1BA | Bernard-Soulier syndrome, type A1 (recessive) |
Bernard-Soulier syndrome | GP1BB | Bernard-Soulier syndrome, type B |
Bernard-Soulier syndrome | GP9 | Bernard-Soulier syndrome, type C |
Beta Thalassaemia | HBB | Beta Thalassaemia |
Bile acid conjugation defect | BAAT | Bile acid conjugation defect 1 |
Biotinidase deficiency | BTD | Biotinidase deficiency |
Branched-chain ketoacid dehydrogenase kinase deficiency | BCKDK | Branched-chain ketoacid dehydrogenase kinase deficiency |
Carbamoyl phosphate synthetase I deficiency | CPS1 | Carbamoyl phosphate synthetase I deficiency |
Carnitine palmitoyltransferase I deficiency | CPT1A | Carnitine palmitoyltransferase I deficiency |
Carnitine palmitoyltransferase II deficiency infantile | CPT2 | Carnitine palmitoyltransferase II deficiency infantile |
Carnitine-acylcarnitine translocase deficiency | SLC25A20 | Carnitine-acylcarnitine translocase deficiency |
Catecholaminergic polymorphic ventricular tachycardia | TRDN | Cardiac arrhythmia syndrome, with or without skeletal muscle weakness |
Catecholaminergic polymorphic ventricular tachycardia | TECRL | Ventricular tachycardia, catecholaminergic polymorphic, 3 |
Catecholaminergic polymorphic ventricular tachycardia | CASQ2 | Ventricular tachycardia, catecholaminergic polymorphic, 2 |
Cerebral creatine deficiency syndrome | GAMT | Cerebral creatine deficiency syndrome 2 |
Cerebral creatine deficiency syndrome | GATM | Cerebral creatine deficiency syndrome 3 |
Cerebrotendinous xanthomatosis | CYP27A1 | Cerebrotendinous xanthomatosis |
Chediak-Higashi Syndrome | LYST | Chediak-Higashi Syndrome |
Chronic granulomatous disorder | CYBB | Chronic granulomatous disease x-linked |
Chronic granulomatous disorder | CYBA | Chronic granulomatous disease 4 |
Chronic granulomatous disorder | NCF2 | Chronic granulomatous disease 3 |
Chronic granulomatous disorder | NCF4 | Chronic granulomatous disease 2 |
Chronic granulomatous disorder | CYBC1 | Chronic granulomatous disease 5 |
Chylomicron retention disease | SAR1B | Chylomicron retention disease |
Citrullinaemia | ASS1 | Citrullinaemia |
Combined immunodeficiency and megaloblastic anaemia with or without hyperhomocysteinaemia | MTHFD1 | Combined immunodeficiency and megaloblastic anaemia with or without hyperhomocysteinaemia |
Combined pituitary hormone deficiency | PROP1 | Combined Pituitary hormone deficiency 2 |
Combined pituitary hormone deficiency | POU1F1 | Pituitary hormone deficiency, combined or isolated, 1, autosomal recessive |
Combined pituitary hormone deficiency | POU1F1 | Pituitary hormone deficiency, combined or isolated, 1, autosomal dominant |
Combined pituitary hormone deficiency | HESX1 | Pituitary hormone deficiency, combined, 5 |
Combined pituitary hormone deficiency | LHX3 | Pituitary hormone deficiency, combined, 3 |
Congenital adrenal hyperplasia | CYP17A1 | 17-alpha-hydroxylase/17,20-lyase deficiency |
Congenital adrenal hyperplasia | CYP21A2 *This gene meets our principles to be included, however it is not currently being analysed due to further internal work being required | Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
Congenital adrenal hyperplasia | CYP11B1 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency |
Congenital adrenal hyperplasia | HSD3B2 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency |
Congenital adrenal hypoplasia | NR0B1 | Adrenal hypoplasia, congenital |
Congenital adrenal insufficiency with 46XY DSD | CYP11A1 | Congenital adrenal insufficiency with 46XY DSD |
Congenital bile acid synthesis defect | HSD3B7 | Bile acid synthesis defect, congenital, 1 |
Congenital bile acid synthesis defect | AKR1D1 | Bile acid synthesis defect, congenital, 2 |
Congenital bile acid synthesis defect | CYP7B1 | Bile acid synthesis defect, congenital, 3 |
Congenital bile acid synthesis defect | AMACR | Bile acid synthesis defect, congenital, 4 |
Congenital diarrhoea | DGAT1 | Diarrhoea 7, protein-losing enteropathy type |
Congenital Diarrhoea | SLC26A3 | Diarrhoea 1, secretory chloride, congenital |
Congenital Diarrhoea | SLC9A3 | Diarrhoea 8, secretory sodium, congenital |
Congenital Diarrhoea | EPCAM | Diarrhoea 5, with tufting enteropathy, congenital |
Congenital Diarrhoea | SPINT2 | Diarrhoea 3, secretory sodium, congenital, syndromic |
Congenital diarrhoea | NEUROG3 | Diarrhoea 4, malabsorptive, congenital |
Congenital disorder of glycosylation, type It | PGM1 | Congenital disorder of glycosylation, type It |
Congenital erythropoietic porphyria | UROS | Congenital erythropoietic porphyria |
Congenital generalised lipodystrophy | AGPAT2 | Congenital generalized lipodystrophy type 1 |
Congenital generalised lipodystrophy | BSCL2 | Lipodystrophy, congenital generalized, type 2 |
Congenital generalised lipodystrophy | CAV1 | Lipodystrophy, congenital generalized, type 3 |
Congenital generalised lipodystrophy | CAVIN1 | Lipodystrophy, congenital generalized, type 4 |
Congenital hyperinsulinism | HADH | Familial hyperinsulinemic hypoglycemia-4 |
Congenital hyperinsulinism | ABCC8 | Hyperinsulinemic hypoglycemia, familial, 1 |
Congenital hyperinsulinism | KCNJ11 | Familial hyperinsulinemic hypoglycemia-2, autosomal recessive |
Congenital hypoaldosteronism | CYP11B2 | Hypoaldosteronism, congenital, due to CMO I deficiency |
Congenital hyperinsulinism | HK1 | HK1 related hyperinsulinism |
Congenital hyperinsulinism | PMM2 | Polycystic kidney disease with hyperinsulinemic hypoglycemia |
Congenital hyperinsulinism | GCK | Familial hyperinsulinemic hypoglycemia-3 |
Congenital hypothyroidism | DUOX2 | Thyroid dyshormonogenesis 6 |
Congenital hypothyroidism | DUOXA2 | Thyroid dyshormonogenesis 5 |
Congenital hypothyroidism | TPO | Thyroid dyshormonogenesis 2A |
Congenital hypothyroidism | TG | Thyroid dyshormonogenesis 3 |
Congenital hypothyroidism | SLC5A5 | Thyroid dyshormonigenesis 1 |
Congenital hypothyroidism | SLC26A7 | Thyroid dyshormonigenesis (no phenotype on OMIM) |
Congenital hypothyroidism | TSHR | Hypothyroidism, congenital, nongoitrous, 1 |
Congenital hypothyroidism | TRHR | Hypothyroidism, congenital, nongoitrous, 7 |
Congenital hypothyroidism | PAX8 | Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia |
Congenital hypothyroidism | IYD | Thyroid dyshormonogenesis 4 |
Congenital hypothyroidism | IGSF1 | Hypothyroidism, central, and testicular enlargement |
Congenital hypothyroidism | TBL1X | Hypothyroidism, congenital, nongoitrous, 8 |
Congenital hypothyroidism | IRS4 | Hypothyroidism, congenital, nongoitrous, 9 |
Congenital hypothyroidism | TSHB | Hypothyroidism, congenital, nongoitrous 4 |
Congenital Myasthenic Syndrome | CHRNE | Myasthenic syndrome, congenital, 4, autosomal recessive |
Congenital Myasthenic Syndrome | AGRN | Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects |
Congenital Myasthenic Syndrome | ALG14 | Myasthenic syndrome, congenital, 15, without tubular aggregates |
Congenital Myasthenic Syndrome | SYT2 | Congenital myasthenic syndrome 7, autosomal recessive |
Congenital Myasthenic Syndrome | CHAT | Congenital myasthenic syndrome-6 |
Congenital Myasthenic Syndrome | CHRNA1 | Congenital myasthenic syndrome-1, autosomal recessive |
Congenital Myasthenic Syndrome | CHRNB1 | Congenital myasthenic syndrome-2, autosomal recessive |
Congenital Myasthenic Syndrome | SYT2 | Congenital myasthenic syndrome 7, autosomal dominant |
Congenital Myasthenic Syndrome | CHRND | Congenital myasthenic syndrome-3, autosomal recessive |
Congenital Myasthenic Syndrome | COL13A1 | Congenital myasthenic syndrome-19 |
Congenital Myasthenic Syndrome | CHRNA1 | Congenital myasthenic syndrome-1, autosomal dominant |
Congenital Myasthenic Syndrome | COLQ | Congenital myasthenic syndrome-5 |
Congenital Myasthenic Syndrome | CHRNB1 | Congenital myasthenic syndrome-2, autosomal dominant |
Congenital Myasthenic Syndrome | DOK7 | Congenital myasthenic syndrome-10 |
Congenital Myasthenic Syndrome | CHRND | Congenital myasthenic syndrome-3, autosomal dominant |
Congenital Myasthenic Syndrome | DPAGT1 | Congenital myasthenic syndrome-13 |
Congenital Myasthenic Syndrome | ALG2 | Congenital myasthenic syndrome-14 |
Congenital Myasthenic Syndrome | GFPT1 | Congenital myasthenic syndrome-12 |
Congenital Myasthenic Syndrome | MUSK | Congenital myasthenic syndrome-9 |
Congenital Myasthenic Syndrome | PREPL | Congenital myasthenic syndrome-22 |
Congenital Myasthenic Syndrome | RAPSN | Congenital myasthenic syndrome-11 |
Congenital Myasthenic Syndrome | SLC18A3 | Congenital myasthenic syndrome-21 |
Congenital Myasthenic Syndrome | SLC25A1 | Congenital myasthenic syndrome-23 |
Congenital Myasthenic Syndrome | SLC5A7 | Congenital myasthenic syndrome-20 |
Congenital Myasthenic Syndrome | VAMP1 | Congenital myasthenic syndrome-25 |
Congenital Myasthenic Syndrome | SCN4A | Congenital myasthenic syndrome-16 |
Congenital prothrombin deficiency | F2 | Congenital Prothrombin deficiency |
Congenital sucrase-isomaltase deficiency | SI | Congenital sucrase-isomaltase deficiency |
Crigler-Najjar syndrome Type I | UGT1A1 | Crigler-Najjar syndrome Type I |
Cystic fibrosis | CFTR | Cystic fibrosis |
Cystinosis | CTNS | Cystinosis, nephropathic |
cytochrome P450 oxidoreductase deficiency | POR | cytochrome P450 oxidoreductase deficiency |
Conditions D-F
Condition group | Gene | Condition name (OMIM) |
Diabetes Insipidus | AVPR2 | Diabetes insipidus, nephrogenic, 1 |
Diabetes Insipidus | AQP2 | Recessive diabetes insipidus, nephrogenic, 2 |
Diabetes Insipidus | AQP2 | Dominant diabetes insipidus, nephrogenic, 2 |
Diabetes Insipidus | AVP | Diabetes insipidus, neurohypophyseal |
Diamond Blackfan Anaemia | RPS19 | Diamond blackfan anaemia 1 |
Diamond Blackfan Anaemia | RPL5 | Diamond blackfan anaemia 6 |
Diamond Blackfan Anaemia | RPL11 | Diamond-Blackfan anaemia 7 |
Diamond Blackfan Anaemia | RPS26 | Diamond-Blackfan anaemia 10 |
Diamond Blackfan Anaemia | RPL35A | Diamond-Blackfan anaemia 5 |
Diamond Blackfan Anaemia | RPS10 | Diamond-Blackfan anaemia 9 |
Diamond Blackfan Anaemia | RPS17 | Diamond-Blackfan anaemia 4 |
Diamond Blackfan Anaemia | RPS24 | Diamond-blackfan anaemia 3 |
Diamond Blackfan Anaemia | RPL15 | Diamond-Blackfan anaemia 12 |
Diamond Blackfan Anaemia | RPL31 | RPL31 associated Diamond-Blackfan anaemia |
Diamond Blackfan Anaemia | RPS7 | Diamond-Blackfan anaemia 8 |
Distal renal tubular acidosis | ATP6V0A4 | Distal renal tubular acidosis type 3 with or without sensorineural hearing loss |
Distal renal tubular acidosis | ATP6V1B1 | Distal renal tubular acidosis type 2 with progressive sensorineural hearing loss |
Distal renal tubular acidosis | SLC4A1 | Distal renal tubular acidosis type 4 with hemolytic anaemia, autosomal recessive |
Distal renal tubular acidosis | SLC4A1 | Distal renal tubular acidosis type 1, autosomal dominant |
DOCK8 Deficiency | DOCK8 | DOCK8 Deficiency |
Dopa responsive dystonia | TH | Dopa-responsive dystonia due to tyrosine hydroxylase defi- ciency |
Early infantile epileptic encephalopathy | SCN1A | Early infantile epileptic encephalopathy-6 |
Early infantile epileptic encephalopathy | SCN2A | Early infantile epileptic encephalopathy-11 |
Early infantile epileptic encephalopathy | SCN8A | Early infantile epileptic encephalopathy-13 |
Early infantile epileptic encephalopathy | KCNQ2 *This gene meets our principles to be included, however it is not currently being analysed due to further internal work being required | Early infantile epileptic encephalopathy-7 |
Early onset osteoporosis | PLS3 | Bone mineral density QTL18, osteoporosis |
Ectodermal dysplasia and immunodeficiency 2 | NFKBIA | Ectodermal dysplasia and immunodeficiency 2 |
Erythropoietic protoporphyria | FECH | Protoporphyria, erythropoietic, 1 |
Erythropoietic protoporphyria | ALAS2 | Protoporphyria, erythropoietic, X-linked |
Factor V deficiency | F5 | Factor V deficiency |
Factor VII deficiency | F7 | Factor VII deficiency |
Factor X deficiency | F10 | Factor X deficiency |
Factor XIII Deficiency | F13A1 | Factor XIIIA deficiency |
Factor XIII Deficiency | F13B | Factor XIIIB deficiency |
Familial Chylomicronaemia Syndrome | LPL | Lipoprotein lipase deficiency |
Familial Chylomicronaemia Syndrome | APOC2 | Hyperlipoproteinemia, type Ib |
Familial Chylomicronaemia Syndrome | LMF1 | Lipase deficiency, combined |
Familial Chylomicronaemia Syndrome | APOA5 | apolipoprotein A-V deficiency |
Familial Chylomicronaemia Syndrome | GPIHBP1 | Hyperlipoproteinemia, type 1D |
Familial Haemophagocytic lymphohistiocytosis | PRF1 | Haemophagocytic lymphohistiocytosis, familial, 2 |
Familial Haemophagocytic lymphohistiocytosis | UNC13D | Haemophagocytic lymphohistiocytosis, familial, 3 |
Familial Haemophagocytic lymphohistiocytosis | STX11 | Haemophagocytic lymphohistiocytosis, familial, 4 |
Familial Haemophagocytic lymphohistiocytosis | STXBP2 | Familial haemophagocytic lymphohistiocytosis-5 |
Familial hyperphosphataemic tumoral calcinosis | GALNT3 | Tumoral calcinosis, hyperphosphatemic, familial, 1 |
Familial hyperphosphataemic tumoral calcinosis | FGF23 | Tumoral calcinosis, hyperphosphatemic, familial, 2 |
Familial isolated hypoparathyroidism | GCM2 | familial isolated hypoparathyroidism 2, Autosomal Recessive |
Familial Mediterranean fever | MEFV | Familial Mediterranean fever, Autosomal recessive |
Familial thrombotic thrombocytopenic purpura | ADAMTS13 | Familial thrombotic thrombocytopenic purpura |
Fructose-1,6-bisphosphatase deficiency | FBP1 | Fructose-1,6-bisphosphatase deficiency |
Conditions G-I
Condition group | Gene | Condition name (OMIM) |
Galactokinase deficiency with cataracts | GALK1 | Galactokinase deficiency with cataracts |
Galactosaemia | GALT | Galactosaemia |
Gastrointestinal defects and immunodeficiency syndrome | TTC7A | Gastrointestinal defects and immunodeficiency syndrome |
Generalised arterial calcification of infancy | ENPP1 | Arterial calcification, generalized, of infancy, 1 |
Generalised arterial calcification of infancy | ABCC6 | Generalized arterial calcification of infancy 2 |
Glanzmann thrombasthenia | ITGA2B | Glanzmann thrombasthenia 1 |
Glanzmann thrombasthenia | ITGB3 | Glanzmann thrombasthenia 2 |
Glucocorticoid deficiency | MC2R | MC2R familial glucocorticoid deficiency |
Glucocorticoid deficiency | MRAP | MRAP familial glucocorticoid deficiency type 2 |
Glucocorticoid deficiency | NNT | Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency |
Glucose/galactose malabsorption | SLC5A1 | Glucose/galactose malabsorption |
GLUT1 deficiency syndrome | SLC2A1 | GLUT1 deficiency syndrome-1, Autosomal Recessive |
GLUT1 deficiency syndrome | SLC2A1 | GLUT1 deficiency syndrome-1, Autosomal Dominant |
Glutaric aciduria type I | GCDH | Glutaric aciduria, type I |
Glycogen storage disease II (Pompe Disease) | GAA | Glycogen storage disease II |
Glycogen storage disease type I | G6PC1 | Glycogen storage disease Ia |
Glycogen storage disease type I | SLC37A4 | Glycogen storage disease Ib and 1c |
Glycogen storage disease type III | AGL | Glycogen storage disease III |
Griscelli Syndrome | RAB27A | Griscelli syndrome, type 2 |
Growth hormone receptor deficiency | GHR | Growth hormone receptor deficiency |
Growth hormone-secreting pituitary adenoma-2 | GPR101 | Growth hormone-secreting pituitary adenoma-2 |
Haemophilia A | F8 | Haemophilia A |
Haemophilia B | F9 | Haemophilia B |
Hepatic venoocclusive disease with immunodeficiency | SP110 | Hepatic venoocclusive disease with immunodeficiency |
Hepatoerythropoietic porphyria | UROD | Porphyria, hepatoerythropoietic |
Hereditary angioedema | SERPING1 | Hereditary angioedema, autosomal recessive |
Hereditary angioedema | SERPING1 | Hereditary angioedema, autosomal dominant |
Hereditary folate malabsorption | SLC46A1 | Hereditary folate malabsorption |
Hereditary fructose intolerance | ALDOB | Hereditary fructose intolerance |
Heritable Retinoblastoma | RB1 | Retinoblastoma |
Hermansky-Pudlak syndrome | AP3B1 | Hermansky-Pudlak syndrome 2 |
Hermansky-Pudlak syndrome | AP3D1 | Hermansky-Pudlak syndrome 10 |
HMG-CoA lyase deficiency | HMGCL | HMG-CoA lyase deficiency |
HMG-CoA synthase-2 deficiency | HMGCS2 | HMG-CoA synthase-2 deficiency |
Holocarboxylase synthetase deficiency | HLCS | Holocarboxylase synthetase deficiency |
Homocystinuria | CBS | Homocystinuria, B6-responsive and nonresponsive types |
Homocystinuria-megaloblastic anaemia | MTRR | Homocystinuria-megaloblastic anaemia, cbl E type |
Homocystinuria-megaloblastic anaemia | MTR | Homocystinuria-megaloblastic anaemia, cblG complementation type |
Homozygous Familial hypercholesterolaemia | LDLR | Homozygous Familial hypercholesterolemia-1 |
Homozygous Familial hypercholesterolaemia | LDLRAP1 | Homozygous Familial hypercholesterolaemia-4 |
Homozygous Familial hypercholesterolaemia | APOB | Hypercholesterolaemia, familial, 2 autosomal recessive |
Homozygous Familial hypercholesterolaemia | PCSK9 | Familial hypercholesterolaemia-3 Autosomal Recessive |
Homozygous Variegate Porphyria | PPOX | Homozygous Variegate Porphyria |
Hyperinsulinism-hyperammonaemia syndrome | GLUD1 | Hyperinsulinism-hyperammonaemia syndrome |
Hypermanganesaemia with dystonia | SLC30A10 | Hypermanganesaemia with dystonia 1 |
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome | SLC25A15 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
Hyperphenyalaninaemia | PTS | Hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency |
Hyperphenyalaninaemia | QDPR | Hyperphenylalaninemia due to dihydropteridine reductase deficiency |
Hypobetalipoproteinaemia | APOB | Hypobetalipoproteinaemia |
Hypohidrotic ectodermal dysplasia | EDA | Ectodermal dysplasia 1, hypohidrotic, X-linked |
Hypohidrotic ectodermal dysplasia | EDAR | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
Hypohidrotic ectodermal dysplasia | EDARADD | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive |
Hypohidrotic ectodermal dysplasia | EDAR | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
Hypohidrotic ectodermal dysplasia | EDARADD | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant |
Hypophosphataemic rickets | PHEX | Hypophosphatemic rickets, X-linked dominant |
Hypophosphataemic rickets | SLC34A3 | Hypophosphatemic rickets with hypercalciuria |
Hypophosphataemic rickets | DMP1 | Hypophosphatemic rickets, AR |
Hypophosphataemic rickets | FGF23 | Hypophosphatemic rickets, autosomal dominant |
Hypophosphatasia | ALPL | Autosomal recessive hypophosphatasia |
IMAGE syndrome | CDKN1C | IMAGE syndrome |
IMAGE-I syndrome | POLE | IMAGE-I syndrome |
Imerslund-Grasbeck syndrome | CUBN | Imerslund-Grasbeck syndrome 1 |
Imerslund-Grasbeck syndrome | AMN | Imerslund-Grasbeck syndrome 2 |
Immune dysregulation | SH2D1A | X-linked Immune dysregulation 1 |
Immune dysregulation | XIAP | X-linked Immune dysregulation 2 |
Immune dysregulation | ITK | ITK related Immune dysregulation 1 |
Immune dysregulation | CD70 | Immune dysregulation 3 |
Immunodeficiency | STAT1 | Immunodeficiency 31B |
Immunodeficiency | LCK | immunodeficiency 22 |
Immunodeficiency | FOXN1 | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
Immunodeficiency | PNP | Immunodeficiency due to purine nucleoside phosphorylase deficiency |
Immunodeficiency | PRKDC | Immunodeficiency 26, with or without neurologic abnormalities |
Immunodeficiency | LAT | Immunodeficiency 52 |
Immunodeficiency | DOCK2 | Immunodeficiency 40 |
Immunodeficiency | IFNGR1 | Immunodeficiency 27A, mycobacteriosis, Autosomal dominant |
Immunodeficiency | IFNGR1 | Immunodeficiency 27A, mycobacteriosis, autosomal recessive |
Immunodeficiency | IFNGR2 | Immunodeficiency 28, mycobacteriosis |
Immunodeficiency | RAC2 | Immunodeficiency 73B |
Immunodeficiency | FCHO1 | Immunodeficiency 76 |
Immunodeficiency | IKBKB | Immunodeficiency 15B |
Immunodeficiency | CTPS1 | Immunodeficiency 24 |
Immunodeficiency | IRAK4 | IRAK4 deficiency |
Immunodeficiency | MYD88 | Immunodeficiency 68 |
Immunodeficiency | STK4 | STK4 associated T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations |
Immunodeficiency | LIG1 | LIG1 associated immunodeficiency |
Immunodeficiency | MAGT1 | X-linked Immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
Immunodeficiency | RASGRP1 | Immunodeficiency 64 |
Immunodeficiency | IRF8 | Immunodeficiency 32B |
Immunodeficiency | MCM4 | Immunodeficiency 54 |
Immunodeficiency | ARPC1B | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
Immunodeficiency with hyper-IgM | CD40 | Immunodeficiency with hyper-IgM, type 3 |
Immunodeficiency with hyper-IgM | CD40LG | X-linked immunodeficiency with hyper-IgM type 1 |
Immunodeficiency with lymphoproliferation and autoimmunity | IL2RA | Immunodeficiency 41 with lymphoproliferation and autoimmunity |
Immunodeficiency with lymphoproliferation and autoimmunity | IL2RB | Immunodeficiency 63 with lymphoproliferation and autoimmunity |
Immunodeficiency-centromeric instability-facial anomalies syndrome | DNMT3B | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 |
Immunodeficiency-centromeric instability-facial anomalies syndrome | ZBTB24 | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
Immunodeficiency-centromeric instability-facial anomalies syndrome | CDCA7 | Immunodeficiency-centromeric instability-facial anomalies syndrome 3 |
Immunodeficiency-centromeric instability-facial anomalies syndrome | HELLS | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 |
Insulin-like growth factor I deficiency | IGF1 | Insulin-like growth factor I deficiency |
Intestinal hypomagnesaemia | TRPM6 | Hypomagnesemia 1, intestinal |
Intrinsic factor deficiency | CBLIF | Intrinsic factor deficiency |
Isolated growth hormone deficiency | GH1 | Isolated growth hormone deficiency type 1A, autosomal recessive |
Isolated growth hormone deficiency | GH1 | Isolated growth hormone deficiency type 1B, autosomal recessive |
Isolated growth hormone deficiency | GH1 | Isolated growth hormone deficiency type II, autosomal dominant |
Isolated growth hormone deficiency | GHRHR | Isolated growth hormone deficiency type 4 |
Isolated growth hormone deficiency | RNPC3 | RNPC3 associated growth hormone deficiency |
Isolated methylmalonic acidaemia | MMUT | Methylmalonic acidemia, mut(0) type |
Isolated methylmalonic acidaemia | MCEE | Methylmalonyl-CoA epimerase deficiency |
Isolated methylmalonic acidaemia | MMAA | Methylmalonic aciduria, vitamin B12-responsive, cblA type |
Isolated methylmalonic acidaemia | MMAB | Methylmalonic aciduria, vitamin B12-responsive, cblB type |
Isolated methylmalonic acidaemia | MMADHC | Methylmalonic aciduria, cblD type, variant 2 |
Isovaleric acidaemia | IVD | Isovaleric acidaemia |
Conditions J-L
Condition group | Gene | Condition name (OMIM) |
Jervell and Lange-Nielsen syndrome | KCNQ1 | Jervell and Lange-Nielsen syndrome |
Kenny-Caffey syndrome, type 2 | FAM111A | Kenny-Caffey syndrome, type 2 |
Leptin deficiency | LEP | Leptin deficiency |
Leptin receptor deficiency | LEPR | Leptin receptor deficiency |
Leukocyte adhesion deficiency | FERMT3 | Leukocyte adhesion deficiency, type III |
Leukocyte adhesion deficiency | ITGB2 | Leukocyte adhesion deficiency, type I |
LIG4 Syndrome | LIG4 | LIG4 Syndrome |
Lipoid adrenal hyperplasia | STAR | STAR deficiency (congenital lipoid hyperplasia) |
Long Chain Hydroxyacyl CoA Dehydrogenase Deficiency, LCHAD | HADHA | LCHAD deficiency |
Long QT syndrome | KCNQ1 | Long QT Syndrome 1 |
Long QT syndrome | KCNH2 | Long QT Syndrome 2 |
Long QT syndrome | SCN5A | Long QT Syndrome 3 |
Lysinuric protein intolerance | SLC7A7 | Lysinuric protein intolerance |
Conditions M-O
Condition group | Gene | Condition name (OMIM) |
Maple Syrup Urine Disease | DBT | Maple syrup urine disease, type II |
Maple Syrup Urine Disease | BCKDHA | Maple syrup urine disease, type Ia |
Maple Syrup Urine Disease | BCKDHB | Maple syrup urine disease, type Ib |
Mannose Phosphate Isomerase (MPI) - Congenital Disorders of Glycosylation | MPI | Mannose Phosphate Isomerase (MPI) - Congenital Disorders of Glycosylation |
Medium-chain acyl-CoA dehydrogenase deficiency | ACADM | Medium-chain acyl-CoA dehydrogenase deficiency |
Megaloblastic anaemia | SLC19A1 | Folate dependent megaloblastic anaemia |
Megaloblastic anaemia | SLC19A2 | Thiamine Repsonsive Megaloblastic Anaemia Syndrome |
Megaloblastic anaemia | DHFR | Megaloblastic anaemia due to dihydrofolate reductase deficiency |
Metachromatic leukodystrophy | ARSA | Metachromatic leukodystrophy |
Methylenetetrahydrofolate Reductase Deficiency | MTHFR | Homocystinuria due to MTHFR deficiency |
Methylmalonic acidaemia and homocystinuria | MMADHC | Methylmalonic aciduria and homocystinuria, cblD type |
Methylmalonic acidaemia and homocystinuria | MMACHC | Methylmalonic aciduria and homocystinuria, cblC type |
Methylmalonic acidaemia and homocystinuria | LMBRD1 | Methylmalonic aciduria and homocystinuria, cblF type |
Mevalonate kinase deficiency | MVK | Hyper-IgD syndrome / mevalonate kinase deficiency |
MIRAGE syndrome | SAMD9 | MIRAGE syndrome |
Mucopolysaccharidosis Type I | IDUA | Mucopolysaccharidosis Type I |
Mucopolysaccharidosis Type II | IDS | Mucopolysaccharidosis Type II |
Mucopolysaccharidosis Type IVA | GALNS | Mucopolysaccharidosis Type IVA |
Mucopolysaccharidosis Type VI | ARSB | Mucopolysaccharidosis Type VI |
Multiple Acyl-CoA Dehydrogenase Deficiency | ETFA | Glutaric acidaemia type IIA |
Multiple Acyl-CoA Dehydrogenase Deficiency | ETFB | Glutaric acidaemia type IIB |
Multiple Acyl-CoA Dehydrogenase Deficiency | ETFDH | Glutaric acidaemia type IIC |
N-acetylglutamate synthase deficiency | NAGS | N-acetylglutamate synthase deficiency |
Neonatal diabetes | GCK | Diabetes mellitus, permanent neonatal 1 |
Neonatal diabetes | INS | Autosomal recessive diabetes mellitus, permanent neonatal 4 |
Neonatal diabetes | ABCC8 | Diabetes mellitus, permanent neonatal 3, with or without neurologic features, autosomal recessive |
Neonatal diabetes | KCNJ11 | Diabetes, permanent neonatal 2, with or without neurologic features |
Neonatal diabetes | GLIS3 | Diabetes mellitus, neonatal, with congenital hypothyroidism |
Neonatal diabetes | INS | Autosomal dominant diabetes mellitus, permanent neonatal 4 |
Neonatal diabetes | NEUROD1 | NEUROD1 related autosomal recessive neonatal diabetes |
Neonatal hyperparathyroidism | CASR | Neonatal hyperparathyroidism, Autosomal Recessive |
Neonatal hyperparathyroidism | CASR | Neonatal hyperparathyroidism, Autosomal Dominant |
Nephrotic syndrome with or without adrenal insufficency | SGPL1 | Nephrotic syndrome, type 14 |
Neurodegeneration due to cerebral folate transport deficiency | FOLR1 | Neurodegeneration due to cerebral folate transport deficiency |
Neuronal ceroid lipofuscinosis | TPP1 | Ceroid lipofuscinosis, neuronal, 2 |
Nijmegen breakage syndrome | NBN | Nijmegen breakage syndrome |
OAS1 associated polymorphic autoinflammatory immunodeficiency | OAS1 | OAS1 related polymorphic autoinflammatory immunodeficiency |
Ornithine transcarbamylase deficiency | OTC | Ornithine transcarbamylase deficiency |
Osteogenesis Imperfecta | COL1A1 | COL1A1 related Osteogenesis Imperfecta |
Osteogenesis Imperfecta | COL1A2 | COL1A2 related Osteogenesis Imperfecta |
Osteogenesis Imperfecta | IFITM5 | Osteogenesis Imperfecta type V |
Osteopetrosis | TCIRG1 | Osteopetrosis type 1 |
Osteopetrosis | CLCN7 | Osteopetrosis type 4, autosomal recessive |
Osteopetrosis | TNFRSF11A | Osteopetrosis type 7 |
Osteopetrosis | SNX10 | Osteopetrosis type 8 |
Osteopetrosis | CLCN7 | Osteopetrosis type 4, autosomal dominant |
Osteopetrosis | CA2 | Osteopetrosis with renal tubular acidosis |
Osteoporosis-pseudoglioma syndrome | LRP5 | Osteoporosis-pseudoglioma syndrome |
OTOF related deafness | OTOF | Auditory neuropathy, autosomal recessive, 1 |
Otofaciocervical syndrome | PAX1 | Otofaciocervical syndrome 2 |
Conditions P-R
Condition group | Gene | Condition name (OMIM) |
Pancreatic agenesis | PTF1A | Pancreatic agenesis 2 |
Periodic fever syndrome | TNFRSF1A | Tumor necrosis factor receptor associated periodic fever syndrome |
Periodic fever syndrome | NLRP3 | Cryopyrin associated periodic fever syndrome |
Phenylketonuria | PAH | Phenylketonuria |
POMC deficiency | POMC | Obesity, adrenal insufficiency, and red hair due to POMC deficiency |
Primary Ciliary Dyskinesia | DNAH5 | Primary Ciliary Dyskinesia 3 |
Primary Ciliary Dyskinesia | CCDC39 | Primary Ciliary Dyskinesia 14 |
Primary Ciliary Dyskinesia | DNAH11 | Primary Ciliary Dyskinesia 15 |
Primary Ciliary Dyskinesia | CCDC40 | Primary Ciliary Dyskinesia 7 |
Primary Ciliary Dyskinesia | DNAI1 | Primary Ciliary Dyskinesia 1 |
Primary Ciliary Dyskinesia | SPAG1 | Primary Ciliary Dyskinesia 28 |
Primary Ciliary Dyskinesia | ODAD2 | Ciliary dyskinesia, primary, 23 |
Primary Ciliary Dyskinesia | CCDC103 | Ciliary dyskinesia, primary, 17 |
Primary Ciliary Dyskinesia | ODAD3 | Ciliary dyskinesia, primary, 30 |
Primary Ciliary Dyskinesia | CCNO | primary ciliary dyskinesia 29 |
Primary Ciliary Dyskinesia | CFAP300 | ciliary dyskinesia, primary, 38 |
Primary Ciliary Dyskinesia | DNAAF3 | primary ciliary dyskinesia 2 |
Primary Ciliary Dyskinesia | DNAI2 | primary ciliary dyskinesia 9 |
Primary Ciliary Dyskinesia | FOXJ1 | ciliary dyskinesia, primary, 43 |
Primary Ciliary Dyskinesia | HYDIN | primary ciliary dyskinesia 5 |
Primary Ciliary Dyskinesia | MCIDAS | ciliary dyskinesia, primary, 42 |
Primary Ciliary Dyskinesia | ODAD1 | primary ciliary dyskinesia 20 |
Primary Ciliary Dyskinesia | ODAD4 | primary ciliary dyskinesia 35 |
Primary Ciliary Dyskinesia | RSPH1 | primary ciliary dyskinesia 24 |
Primary Ciliary Dyskinesia | RSPH3 | Ciliary dyskinesia, primary, 32 |
Primary Ciliary Dyskinesia | RSPH4A | primary ciliary dyskinesia 11 |
Primary Ciliary Dyskinesia | RSPH9 | Ciliary dyskinesia, primary, 12 |
Primary Ciliary Dyskinesia | ZMYND10 | primary ciliary dyskinesia 22 |
Primary Ciliary Dyskinesia | CFAP298 | Ciliary dyskinesia, primary, 26 |
Primary Ciliary Dyskinesia | CCDC65 | Ciliary dyskinesia, primary, 27 |
Primary Ciliary Dyskinesia | DNAAF1 | Ciliary dyskinesia, primary, 13 |
Primary Ciliary Dyskinesia | DNAAF11 | Ciliary dyskinesia, primary, 19 |
Primary Ciliary Dyskinesia | DNAAF2 | Ciliary dyskinesia, primary, 10 |
Primary Ciliary Dyskinesia | DNAAF4 | Ciliary dyskinesia, primary, 25 |
Primary Ciliary Dyskinesia | DNAAF5 | Ciliary dyskinesia, primary, 18 |
Primary Ciliary Dyskinesia | DNAH9 | Ciliary dyskinesia, primary, 40 |
Primary Ciliary Dyskinesia | DRC1 | Ciliary dyskinesia, primary, 21 |
Primary Ciliary Dyskinesia | GAS8 | Ciliary dyskinesia, primary, 33 |
Primary coenzyme Q10 deficiency | COQ4 | COQ4 related primary coenzyme Q10 deficiency |
Primary coenzyme Q10 deficiency | COQ6 | COQ6 related primary coenzyme Q10 deficiency |
Primary coenzyme Q10 deficiency | COQ8B | COQ8B related primary coenzyme Q10 deficiency with nephrotic syndrome |
Primary coenzyme Q10 deficiency | COQ2 | COQ2 related primary coenzyme Q10 deficiency |
Primary hyperoxaluria type I | AGXT | Hyperoxaluria, primary, type 1 |
Primary hyperoxaluria type II | GRHPR | Hyperoxaluria, primary, type II |
Primary hyperoxaluria type III | HOGA1 | Hyperoxaluria, primary, type III |
Primary systemic carnitine deficiency | SLC22A5 | Primary systemic carnitine deficiency |
Properdin deficiency | CFP | Properdin deficiency, X-linked |
Propionic acidaemia | PCCA | Propionic acidemia 1 |
Propionic acidaemia | PCCB | Propionic acidemia 2 |
Pseudohypoaldosteronism | SCNN1A | SCNN1A related pseudohypoaldosteronism Type 1A |
Pseudohypoaldosteronism | SCNN1B | SCNN1B related pseudohypoaldosteronism Type 1A |
Pseudohypoaldosteronism | SCNN1G | SCNN1G related pseudohypoaldosteronism Type 1A |
Pseudohypoaldosteronism | NR3C2 | Pseudohypoaldosteronism type I, autosomal dominant |
Pseudohypoaldosteronism | KLHL3 | Pseudohypoaldosteronism, type IID, autosomal recessive |
Pseudohypoaldosteronism | KLHL3 | Pseudohypoaldosteronism, type IID, autosomal dominant |
Pseudohypoaldosteronism | WNK1 | Pseudohypoaldosteronism, type IIC |
Pseudohypoaldosteronism | CUL3 | Pseudohypoaldosteronism, type IIE |
PSTPIP1 related inflammatory disease | PSTPIP1 | PSTPIP1 associated inflammatory disease |
Pyridoxamine 5-prime-phosphate oxidase deficiency | PNPO | Pyridoxamine 5’-phosphate oxidase deficiency |
Pyridoxine dependent epilepsy | ALDH7A1 | Pyridoxine dependent epilepsy |
Pyruvate kinase deficiency | PKLR | Pyruvate kinase deficiency |
Riboflavin transporter deficiency | SLC52A3 | Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome 1) |
Riboflavin transporter deficiency | SLC52A2 | Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome 2) |
RPE65 related Leber congenital amaurosis/early-onset severe retinal dystrophy | RPE65 | RPE65 associated Leber congenital amaurosis, early-onset severe retinal dystrophy |
Conditions S-U
Condition group | Gene | Condition name (OMIM) |
SCID | AK2 | Reticular Dysgenesis |
SCID | ADA | Severe combined immunodeficiency due to ADA deficiency |
SCID | IL2RG | SCID X-Linked |
SCID | JAK3 | JAK3 related T cell-negative, B cell-positive, natural killer cell-negative severe combined immunodeficiency |
SCID | NHEJ1 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation |
SCID | IL7R | Immunodeficiency 104, severe combined |
SCID | PTPRC | Immunodeficiency 105, severe combined |
SCID | RAG1 | RAG1 related severe combined immunodeficiency, B cell-negative |
SCID | RAG2 | RAG2 related severe combined immunodeficiency, B cell-negative |
SCID | DCLRE1C | Severe combined immunodeficiency with sensitivity to ionising radiation |
SCID | ZAP70 | Immunodeficiency 48, severe combined |
SCID | CORO1A | Immunodeficiency 8 |
SCID | CD247 | Immunodeficiency 25, severe combined |
SCID | CD3D | Immunodeficiency 19, severe combined |
SCID | CD3E | Immunodeficiency 18 |
SCID | CD3G | Immunodeficiency 17, CD3 gamma deficient |
SCOT deficiency | OXCT1 | Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency |
Shwachman-Diamond syndrome | SBDS | Shwachman-Diamond syndrome 1 |
Shwachman-Diamond syndrome | EFL1 | Shwachman-Diamond syndrome 2 |
Shwachman-Diamond syndrome | DNAJC21 | DNAJC21 related Shwachman-Diamond syndrome |
Shwachman-Diamond syndrome | SRP54 | SRP54 related Shwachman-Diamond syndrome |
Sickle Cell Disease | HBB | Sickle Cell Disease |
Specific complement deficiency | CFB | Complement factor B deficiency |
Specific complement deficiency | CFH | Complement factor H deficiency Autosomal recessive |
Specific complement deficiency | CFH | Complement factor H deficiency, autosomal dominant |
Specific complement deficiency | CFI | Complement factor I deficiency |
Specific complement deficiency | C3 | C3 deficiency |
Specific complement deficiency | C2 | C2 deficiency |
Specific complement deficiency | C5 | C5 deficiency |
Specific complement deficiency | C7 | C7 deficiency |
Specific complement deficiency | C8A | C8 deficiency, type I |
Specific complement deficiency | C8B | C8 deficiency, type II |
Specific complement deficiency | C6 | C6 deficiency |
Specific complement deficiency | C9 | C9 deficiency |
Specific complement deficiency | CFD | Complement factor D deficiency |
Specific granule deficiency | SMARCD2 | Specific granule deficiency 2 |
Specific granule deficiency | CEBPE | Specific granule deficiency 1 |
Spinal muscular atrophy | SMN1 | Spinal Muscular Atrophy |
Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | SLC19A3 | Biotin- or thiamine-responsive encephalopathy type 2 caused by SLC19A3 thiamine transporter deficiency |
Thiamine metabolism dysfunction syndrome 5 | TPK1 | Thiamine Pyrophosphokinase Deficiency |
Thyroid hormone resistance | THRA | Resistance to thyroid hormone alpha (OMIM: Hypothyroidism, congenital, nongoitrous, 6) |
Thyroid hormone resistance | THRB | Thyroid hormone resistance, autosomal dominant |
Thyroid hormone resistance | THRB | Thyroid hormone resistance, autosomal recessive |
Transcobalamin II deficiency | TCN2 | Transcobalamin II deficiency |
Trichohepatoenteric syndrome | SKIC3 | Trichohepatoenteric syndrome 1 |
Trichohepatoenteric syndrome | SKIC2 | Trichohepatoenteric syndrome 2 |
Trifunctional protein deficiency | HADHB | Mitochondrial trifunctional protein deficiency 2 |
Tyrosinaemia, type I | FAH | Tyrosinemia, type I |
Tyrosinaemia, type II | TAT | Tyrosinemia, type II |
Uridine-responsive epileptic encephalopathy | CAD | Uridine-responsive epileptic encephalopathy |
Conditions V-X
Condition group | Gene | Condition name (OMIM) |
Very early onset inflammatory bowel disease | IL10 | Interleukin-10 deficiency |
Very early onset inflammatory bowel disease | IL10RB | Inflammatory bowel disease 25 |
Very early onset inflammatory bowel disease | IL10RA | Inflammatory bowel disease 28 |
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency | ACADVL | VLCAD deficiency |
Vitamin B6-dependent epilepsy | PLPBP | Vitamin B6-dependent epilepsy |
Vitamin D dependent rickets | CYP27B1 | Vitamin D-dependent rickets, type I |
Vitamin D dependent rickets | CYP2R1 | Rickets due to defect in vitamin D 25-hydroxylation deficiency |
Vitamin D resistant rickets | VDR | Rickets, vitamin D-resistant, type IIA |
Wilms Tumour predisposition syndrome | WT1 | Wilms Tumour type 1/ Denys-Drash syndrome |
Wilms Tumour predisposition syndrome | REST | Wilms tumour predisposition |
Wilms Tumour predisposition syndrome | TRIM28 | TRIM28 related Wilms tumour predisposition |
Wiskott Aldrich syndrome | WAS | Wiskott Aldrich syndrome |
Wolcot-Rallison syndrome | EIF2AK3 | multiple epiphyseal dysplasia with early onset diabetes mellitus, Wolcot-Rallison syndrome |
Xeroderma pigmentosum | DDB2 | Xeroderma pigmentosum, group E, DDB-negative subtype |
Xeroderma pigmentosum | ERCC2 | Xeroderma pigmentosum, group D |
Xeroderma pigmentosum | ERCC3 | Xeroderma pigmentosum, group B |
Xeroderma pigmentosum | ERCC4 | Xeroderma pigmentosum, group F |
Xeroderma pigmentosum | ERCC5 | Xeroderma pigmentosum, group G |
Xeroderma pigmentosum | POLH | Xeroderma pigmentosum, variant type |
Xeroderma pigmentosum | XPA | Xeroderma pigmentosum, group A |
Xeroderma pigmentosum | XPC | Xeroderma pigmentosum, group C |
X-linked immunodysregulation, polyendocrinopathy, and enteropathy | FOXP3 | X-linked immunodysregulation, polyendocrinopathy, and enteropathy |