Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
| Absence of pain, Congenital (14.120) | CLTCL1 (22q11.21) Clathrin, heavy polypeptide-like 1       | |
| Acetazolamide-responsive hereditary paroxymal cerebellar ataxia (7.9, 13.6, 13.54, 7.10, 13.48) | 108500 | CACNA1A (19p13.13) Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
| Acyl-CoA dehydrogenase (very long chain) deficiency (9.28) | 201475 | ACADVL (17p13) Acyl-Coenzyme A dehydrogenase, very long chain (M) |
| Adult onset distal myopathy ( | 610099 | |
| Agenesis of the corpus callosum with peripheral neuropathy (14.126) | 218000 | SLC12A6 (15q13-q15) Potassium chloride cotransporter KCC3 |
| Aldehyde dehydrogenase, family 3, subfamily A, member 2 (15.83) | 270200 | ALDH3A2 (17p11.2) Aldehyde dehydrogenase 3A2 |
| Amyotrophic lateral sclerosis (12.56) | 606640 | ? - (18q21) |
| Amyotrophic lateral sclerosis (12.61, 12.44) | 608627 | VAPB (7p15) Vesicle-associated membrane protein-associated protein B and C |
| Amyotrophic lateral sclerosis (12.60) | 608031 | ? - (20p13) |
| Amyotrophic lateral sclerosis (12.59) | 608030 | FUS (16q12) Fusion (involved in t(12;16) in malignant liposarcoma) |
| Amyotrophic lateral sclerosis (12.89) | LRP10 (14q11.2) Low Density Lipoprotein Receptor-Related Protein 10 | |
| Amyotrophic lateral sclerosis (14.102, 12.80) | SPTLC1 (9q22.2) Serine palmitoyltransferase subunit 1 | |
| Amyotrophic lateral sclerosis 1 (12.53, 12.54) | 105400 | SOD1 (21q22.1) Superoxide dismutase 1, soluble |
| amyotrophic lateral sclerosis 10 (12.63, 4.29) | 612069 | TARDBP (1p36.2) TAR DNA binding protein |
| Amyotrophic lateral sclerosis 11 (14.33, 12.64) | 612577 | FIG4 (6q21) Sac domain-containing inositol phosphatase 3 |
| Amyotrophic lateral sclerosis 12 (12.65) | OPTN (10p14) Optineurin | |
| Amyotrophic lateral sclerosis 13 (13.2, 12.66) | 183090 | ATXN2 (12q24.12) Ataxin 2 |
| Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (5.37, 4.22, 12.67, 1.56, 14.66) | 613954 | VCP (9p13-p12) Valosin-containing protein |
| Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (12.68) | UBQLN2 (Xp11.21) Ubiquilin 2 | |
| Amyotrophic lateral sclerosis 16, juvenile (12.6, 12.69) | 614373 | SIGMAR1 (9p13.3) Sigma non-opioid intracellular receptor 1 |
| Amyotrophic lateral sclerosis 17 (12.70) | 614696 | CHMP2B (3p11.2) Charged multivesicular body protein 2B |
| Amyotrophic lateral sclerosis 18 (12.71) | 614808 | PFN1 (17p13.2) Profilin 1 |
| Amyotrophic lateral sclerosis 19 (12.72) | 615515 | ERBB4 (2q34) V-ERB-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 4 |
| Amyotrophic lateral sclerosis 20 (4.7, 12.73, 3.35) | 615426 | HNRNPA1 (12q13.13) Heterogeneous nuclear ribonucleoprotein A1 |
| Amyotrophic lateral sclerosis 22 (12.75) | 616208 | TUBA4A (2q35) Tubulin, Alpha-4A |
| Amyotrophic lateral sclerosis 25, susceptibility to (15.6, 14.73, 12.78) | 617921 | KIF5A (12q13.13) Kinesin family member 5A |
| Amyotrophic lateral sclerosis 28 (5.23, 12.81) | 620452 | LRP12 (8q22.3) Low density lipoprotein receptor-related protein 12 |
| Amyotrophic lateral sclerosis 5 (15.27, 12.58, 14.93) | 602099 | SPG11 (15q21.1) SPG11 vesicle trafficking associated, Spatacsin |
| amyotrophic lateral sclerosis 9 (12.62) | 611895 | ANG (14q11.2) Angiogenin |
| Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.45, 12.86, 16.24) | 615911 | CHCHD10 (22q11.2-q13.2) Coiled-coil-helix-coiled-coil-helix domain containing 10 (M) |
| Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.85, 12.117) | 105550 | C9orf72 (9p21.2) Chromosome 9 open reading frame 72 |
| Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.87, 4.23, 4.15) | 616437 | SQSTM1 (5q35.3) Sequestosome 1 |
| Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.88) | 616439 | TBK1 (12q14.2) Tank-binding kinase 1 |
| Amyotrophic lateral sclerosis, due to SOD1 deficiency (12.53, 12.54) | 105400 | SOD1 (21q22.1) Superoxide dismutase 1, soluble |
| Amyotrophic lateral sclerosis, juvenile (12.55, 15.84) | 205100 | ALS2 (2q33.2) Alsin Rho guanine nucleotide exchange factor 2 |
| Amyotrophic lateral sclerosis, susceptibility to, 24 (12.77) | 617892 | NEK1 (4q33) Never in motosis gene A-related kinase 1 |
| Amytrophic lateral sclerosis 23 (12.76, 12.113) | 617839 | ANXA11 (10q23.3) Annexin A11 |
| Andermann syndrome (14.126) | 218000 | SLC12A6 (15q13-q15) Potassium chloride cotransporter KCC3 |
| Andersen-Tawill syndrome cardiodysrythmic periodic paralysis (10.152, 10.148) | KCNJ5 (11 q24.3) Potassium inwardly-rectifying channel, subfamily J, member 5 | |
| Andersen-Tawill syndrome cardiodysrythmic periodic paralysis (10.155, 10.166, 10.142) | KCNJ2 (17q24.3) Potassium channel, inwardly rectifying, dubfamily J, member 2 | |
| Arrhythmogenic right ventricular cardiomyopathy 2 (10.116, 10.128) | 600996 | RYR2 (1q43) Ryanodine receptor 2 |
| Arrhythmogenic right ventricular cardiomyopathy 3 (10.117) | 602086 | ? - (14q12-q22) |
| Arrhythmogenic right ventricular cardiomyopathy 4 (10.118) | 602087 | ? - (2q32.1-q32.3) |
| Arrhythmogenic right ventricular cardiomyopathy 6 (10.120, 3.43) | 604404 | HACD1 (10p12.33) Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase |
| Arrhythmogenic right ventricular dysplasia 2 (10.116, 10.128) | 600996 | RYR2 (1q43) Ryanodine receptor 2 |
| Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy (5.1, 10.46, 5.15, 10.135, 11.44) | 601419 | DES (2q35) Desmin |
| Arrhythmogenic right ventricular dysplasia-3 (10.117) | 602086 | ? - (14q12-q22) |
| Arrhythmogenic right ventricular dysplasia, 1 (10.115) | 107970 | TGFB3 (14q24.3) Transforming growth factor, beta 3 |
| Arrhythmogenic right ventricular dysplasia, 10 (10.123, 10.65) | 610193 | DSG2 (18q12.1) Desmoglein 2 |
| Arrhythmogenic right ventricular dysplasia, 11 (10.124) | 610476 | DSC2 (18q12.1) Desmocollin 2 |
| Arrhythmogenic right ventricular dysplasia, 8 (10.121) | 607450 | DSP (6p24.3) Desmoplakin |
| Arrhythmogenic right ventricular dysplasia, 9 (10.122) | 609040 | PKP2 (12p11.21) Plakophilin 2 |
| Arrhythmogenic right ventricular dysplasia, familial, 1 (10.115) | 107970 | TGFB3 (14q24.3) Transforming growth factor, beta 3 |
| arrhythmogenic right ventricular dysplasia, familial, 12 (10.134, 10.125) | 611528 | JUP (17q21.2) Junction plakoglobin |
| Arrhythmogenic right ventricular dysplasia, familial, 13 (10.126) | 615616 | CTNNA3 (10q21.3) Catenin alpha 3 |
| Arrhythmogenic right ventricular dysplasia, familial, 14 (10.127) | 618920 | CDH2 (18q12.1) Cadherin 2 |
| Arrhythmogenic right ventricular dysplasia, familial, 4 (10.118) | 602087 | ? - (2q32.1-q32.3) |
| arrhythmogenic right ventricular dysplasia, familial, 5 (10.119, 1.8) | 604400 | TMEM43 (3p25.1) Transmembrane protein 43 |
| Arrhythmogenic right ventricular dysplasia, familial, 6 (10.120, 3.43) | 604401 | HACD1 (10p12.33) Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase |
| arrhythmogenic right ventricular dysplasia, familial, 7 ( | 609160 | ? - (10q22) |
| Arthrogryposis and BICD2-related neuromuscular disease (12.42, 12.43, 17.24) | BICD2 (9q22.31) Bicaudal D homolog 2 (Drosophila) | |
| Arthrogryposis multiplex congenita 7, X-linked (17.26) | 301127 | THOC2 (Xq25) Tho complex, subunit 2 |
| Arthrogryposis multiplex congenita with nesprin-1 defect (1.5, 13.68, 17.23, 10.92) | 618484 | SYNE1 (6q25) Spectrin repeat containing, nuclear envelope 1 (nesprin 1) |
| Arthrogryposis related to ASCC1 (12.17, 17.25) | ASCC1 (10q22.1) Activating signal cointegrator 1 complex subunit 1 | |
| Arthrogryposis, distal type 11 (17.21) | 620019 | MET (7q31.2) MET protooncogene |
| Arthrogryposis, distal type 12 (17.22) | 620545 | ADAMTS15 (11q24.3) A disintegin-like and metalloproteinase with thrombospondin type 1 motif 15 |
| Arthrogryposis, distal, type 1B (17.10, 12.93, 3.55) | 614335 | MYBPC1 (12q23.2) Myosin-binding proteinC, slow type |
| Arthrogryposis, distal, type 3 (17.16, 17.17) | 114300 | PIEZO2 (18p11.22-p11.21) Piezo-type mechanosensitive ion channel component 2 |
| Arthrogryposis, distal, type 5 (17.16, 17.17) | 108145 | PIEZO2 (18p11.22-p11.21) Piezo-type mechanosensitive ion channel component 2 |
| Arthrogryposis, distal, type 10 (17.20) | 187370 | ? - (2q31.3-q32.1 ) |
| Arthrogryposis, distal, type 1A (3.6, 3.36, 17.9, 17.15) | 108120 | TPM2 (9p13) Tropomyosin 2 (beta) |
| Arthrogryposis, distal, type 2A (17.11, 17.14) | 193700 | MYH3 (17p13) Myosine, heavy chain 3, skeletal muscle, embryonic |
| arthrogryposis, distal, type 2B (3.6, 3.36, 17.9, 17.15) | 601680 | TPM2 (9p13) Tropomyosin 2 (beta) |
| Arthrogryposis, distal, type 2B (17.12) | 601680 | TNNI2 (11p15.5) Troponin I, type 2 |
| Arthrogryposis, distal, type 2B (17.13, 3.16) | 601680 | TNNT3 (11p15.5) Troponin T3, skeletal |
| Arthrogryposis, distal, type 2B (17.11, 17.14) | 601680 | MYH3 (17p13) Myosine, heavy chain 3, skeletal muscle, embryonic |
| Arthrogryposis, distal, type 5D (17.18) | 615065 | ECEL1 (2q37.1) Endothelin-converting enzyme like 1 |
| Asymmetric septal hypertrophy (10.55, 10.10, 10.107) | 192600 | ACTC1 (15q11-q14) Actin, alpha, cardiac muscle precursor |
| ataxia telangiectasia (13.99) | 208900 | ATM (11q22.3) Ataxia telangiectasia mutated |
| ataxia telangiectasia-like disorder (13.100) | 604391 | MRE11A (11q21) MRE11 meiotic recombination 11 homolog A |
| Ataxia telangiectasia-like disorder 2 (13.101) | 615919 | PCNA (20p12.3) Proloferating cell nuclear antigen |
| Ataxia with isolated vitamin E deficiency (13.59) | 277460 | TTPA (8q13.1-q13.3) Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency) |
| Ataxia-pancytopenia syndrome (13.56, 13.45) | 159550 | SAMD9L (7q21.2) Sterile Alpha Motif Domain-Containing Protein 9-Like |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (13.61) | 208920 | APTX (9p13.3) Aprataxin |
| Ataxia, Friedreich-like, with selective vitamin E deficiency (13.59) | 277460 | TTPA (8q13.1-q13.3) Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency) |
| Ataxia, posterior column, with retinitis pigmentosa (PCARP) (14.119) | 609033 | FLVCR1 (1q32.3) Feline leukemia subgroup C receptor 1 |
| ataxia, spastic, 1, autosomal dominant (15.91, 11.33) | 108600 | VAMP1 (12p13) Vesicle associated membrane protein (synaptobrevin 1) (M) |
| ataxia, spastic, 2, autosomal recessive (15.92) | 611302 | KIF1C (17p13.2) kinesin family member 1C |
| ATFB18 (10.175) | 617280 | MYL4 (17q21.32) Myosin, Light Chain 4, Alkali, Atrial, Embryonic |
| atrial fibillation, familial, 8 (10.165) | 613055 | ? - (16q22) |
| Atrial fibrillation , 12 (10.52, 10.169, 5.48) | 614050 | ABCC9 (16p13.1) ATP-binding cassette, sub-family C (member 9) |
| Atrial fibrillation, 1 (10.158) | 607554 | ? - (10q22-q24) |
| Atrial fibrillation, 10 (10.138, 10.43, 10.177, 10.187, 10.167) | 614022 | SCN5A (3p22.2) Voltage-gated sodium channel type V alpha |
| Atrial fibrillation, 13 (10.181, 10.170) | 615377 | SCN1B (19q13.11) Sodium channel, voltage-gated, type I, beta subunit |
| Atrial fibrillation, 14 (10.171) | 615378 | SCN2B (11q23.3) Sodium channel, voltage-gated, type II, beta subunit |
| Atrial fibrillation, 15 (10.172) | 615770 | NUP155 (5p13.2) Nucleoporin 155 kDa |
| Atrial fibrillation, 16 (10.183, 10.173) | 613120 | SCN3B (11 q24.1) Sodium channel, voltage-gated, type III, beta subunit |
| Atrial fibrillation, 17 (10.145, 10.174) | 611819 | SCN4B (11q23.3) Sodium channel, voltage-gated, type IV, beta subunit |
| Atrial fibrillation, 2 (10.159) | 608988 | ? - (10q22-q24) |
| Atrial fibrillation, 3 (10.156, 10.136, 10.160, 10.154) | 607554 | KCNQ1 (11p15.5-p15.4) Potassium voltage-gated channel, KQT-like subfamily, member 1 |
| Atrial fibrillation, 4 (10.141, 10.161) | 611493 | KCNE2 (21q22.12) Potassium voltage-gated channel, Isk-related family, member 2 |
| Atrial fibrillation, 9 (10.155, 10.166, 10.142) | 613980 | KCNJ2 (17q24.3) Potassium channel, inwardly rectifying, dubfamily J, member 2 |
| atrial fibrillation, familial (10.164) | 612240 | KCNA5 (12p13.32) Potassium voltage-gated channel, shaker-related subfamily, member 5 |
| atrial fibrillation, familial, 1 (10.168, 10.176) | 608583 | GJA5 (1q21.1) Connexin 40 |
| atrial fibrillation, familial, 5 (10.162) | 611494 | ? - (4q25) |
| atrial fibrillation, familial, 6 (10.163) | 612201 | NPPA (1p36.22) Natriuretic peptide precursor A |
| Autophagic vacuolar myopathy (5.20) | 204200 | CLN3 (16p11.2) Ceroid-lipofuscinosis, neuronal 3 (=battenin) |
| Autosomal dominant myopathy with proximal muscle weakness and early respiratory (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101) | 603689 | TTN (2q31) Titin |
| Autosomal recessive CMT axonal type 2S (12.5, 14.91) | 616155 | IGHMBP2 (11q13.2-q13.4) Immunoglobulin mu binding protein 2 |
| Autosomal recessive CMT2 related to DNAJB2 (12.9, 14.84) | DNAJB2 (2q32-q34) DnaJ (Hsp40) homolog, subfamily B, member 2 | |
| Autosomal recessive spastic ataxia of Charlevoix-Saguenay (15.96, 13.102, 14.97) | 270550 | SACS (13q12) Sacsin |
| autosomal recessive spastic ataxia with leukoencephalopathy (15.93) | 611390 | MARS2 (2q33-34) Methionyl-tRNA synthetase 2, mitochondrial (M) |
| Autosomal recessive spinocerebellar ataxia, 2 (13.62) | 213200 | PMPCA (9q34.3) Mitochondrial processing peptidase-alpha, KIAA0123 (M) |
| Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency (13.69, 17.49) | 612016 | ADCK3 (1q42.13) Coenzyme Q8A |
| Axonal neuropathy intermediate recessive C (12.8, 14.88) | 615376 | PLEKHG5 (1p36) Pleckstrin homology domain containing, family G (with RhoGef domain) member 5 |
| Axonal neuropathy recessive (14.87) | 613641 | KARS (16q23.1) Lysyl-tRNA synthetase |