Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
Absence of pain, Congenital (14.114) | ||
ACAD9-deficient mild myopathy (9.25) | 611126 | |
Acetazolamide-responsive hereditary paroxymal cerebellar ataxia (7.9, 13.6, 13.50, 7.10, 13.45) | 108500 | |
Acyl-CoA dehydrogenase (very long chain) deficiency (9.24) | 201475 | |
Adolescent onset distal myopathy (4.20) | 617030 | |
Adult onset distal myopathy (4.6) | 610099 | ? - (8p22-q11) |
Agenesis of the corpus callosum with peripheral neuropathy (14.120) | 218000 | |
Aldehyde dehydrogenase, family 3, subfamily A, member 2 (15.68) | 270200 | |
Amyotrophic lateral sclerosis (12.46) | 606640 | ? - (18q21) |
Amyotrophic lateral sclerosis (12.51, 12.35) | 608627 | |
Amyotrophic lateral sclerosis (12.50) | 608031 | ? - (20p13) |
Amyotrophic lateral sclerosis (12.49) | 608030 | |
Amyotrophic lateral sclerosis (12.76) | ||
Amyotrophic lateral sclerosis (14.97, 12.77) | ||
Amyotrophic lateral sclerosis 1 (12.43, 12.44) | 105400 | |
amyotrophic lateral sclerosis 10 (12.53) | 612069 | |
Amyotrophic lateral sclerosis 11 (14.32, 12.54) | 612577 | |
Amyotrophic lateral sclerosis 12 (12.55) | ||
Amyotrophic lateral sclerosis 13 (13.2, 12.56) | 183090 | |
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (5.29, 4.19, 12.57, 1.62, 14.65) | 613954 | |
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (12.58) | ||
Amyotrophic lateral sclerosis 16, juvenile (12.6, 12.59) | 614373 | |
Amyotrophic lateral sclerosis 17 (12.60) | 614696 | |
Amyotrophic lateral sclerosis 18 (12.61) | 614808 | |
Amyotrophic lateral sclerosis 19 (12.62) | 615515 | |
Amyotrophic lateral sclerosis 20 (3.40, 12.63) | 615426 | |
Amyotrophic lateral sclerosis 22 (12.65) | 616208 | |
Amyotrophic lateral sclerosis 25, susceptibility to (15.6, 14.72, 12.68) | 617921 | |
Amyotrophic lateral sclerosis 5 (15.26, 12.48, 14.89) | 602099 | |
amyotrophic lateral sclerosis 9 (12.52) | 611895 | |
Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.36, 12.73, 16.62) | 615911 | |
Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.72) | 105550 | |
Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.74, 4.21, 4.8) | 616437 | |
Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.75) | 616439 | |
Amyotrophic lateral sclerosis, due to SOD1 deficiency (12.43, 12.44) | 105400 | |
Amyotrophic lateral sclerosis, juvenile (12.45, 15.69) | 205100 | |
Amyotrophic lateral sclerosis, susceptibility to, 24 (12.67) | 617892 | |
Amytrophic lateral sclerosis 23 (12.66, 12.102) | 617839 | |
Andermann syndrome (14.120) | 218000 | |
Andersen-Tawill syndrome cardiodysrythmic periodic paralysis (10.130, 10.136) | ||
Andersen-Tawill syndrome cardiodysrythmic periodic paralysis (10.142, 10.153, 10.129) | ||
Arrhythmogenic right ventricular cardiomyopathy 2 (10.104, 10.115) | 600996 | |
Arrhythmogenic right ventricular cardiomyopathy 3 (10.105) | 602086 | ? - (14q12-q22) |
Arrhythmogenic right ventricular cardiomyopathy 4 (10.106) | 602087 | ? - (2q32.1-q32.3) |
Arrhythmogenic right ventricular cardiomyopathy 6 (10.108, 3.49) | 604404 | |
Arrhythmogenic right ventricular dysplasia 2 (10.104, 10.115) | 600996 | |
Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy (5.1, 1.28, 10.44, 1.58, 5.14, 10.121) | 601419 | |
Arrhythmogenic right ventricular dysplasia-3 (10.105) | 602086 | ? - (14q12-q22) |
Arrhythmogenic right ventricular dysplasia, 1 (10.103) | 107970 | |
Arrhythmogenic right ventricular dysplasia, 10 (10.111, 10.63) | 610193 | |
Arrhythmogenic right ventricular dysplasia, 11 (10.112) | 610476 | |
Arrhythmogenic right ventricular dysplasia, 8 (10.109) | 607450 | |
Arrhythmogenic right ventricular dysplasia, 9 (10.110) | 609040 | |
Arrhythmogenic right ventricular dysplasia, familial, 1 (10.103) | 107970 | |
arrhythmogenic right ventricular dysplasia, familial, 12 (10.120, 10.113) | 611528 | |
Arrhythmogenic right ventricular dysplasia, familial, 13 (10.114) | 615616 | |
Arrhythmogenic right ventricular dysplasia, familial, 4 (10.106) | 602087 | ? - (2q32.1-q32.3) |
arrhythmogenic right ventricular dysplasia, familial, 5 (10.107, 1.8) | 604400 | |
Arrhythmogenic right ventricular dysplasia, familial, 6 (10.108, 3.49) | 604401 | |
arrhythmogenic right ventricular dysplasia, familial, 7 ( | 609160 | ? - (10q22) |
Arthrogryposis and BICD2-related neuromuscular disease (12.33, 12.34, 16.22) | ||
Arthrogryposis and muscular dysplasia (16.23) | ||
Arthrogryposis multiplex congenita with nesprin-1 defect (1.6, 13.63, 16.21, 10.82) | 618484 | |
Arthrogryposis related to ASCC1 (12.12, 16.24) | ||
Arthrogryposis, distal, type 1B (16.10, 12.81) | 614335 | |
Arthrogryposis, distal, type 3 (16.16, 16.17) | 114300 | |
Arthrogryposis, distal, type 5 (16.16, 16.17) | 108145 | |
Arthrogryposis, distal, type 10 (16.20) | 187370 | ? - (2q31.3-q32.1 ) |
Arthrogryposis, distal, type 1A (3.4, 3.42, 16.9, 16.15) | 108120 | |
Arthrogryposis, distal, type 2A (16.11, 16.14) | 193700 | |
arthrogryposis, distal, type 2B (3.4, 3.42, 16.9, 16.15) | 601680 | |
Arthrogryposis, distal, type 2B (16.12) | 601680 | |
Arthrogryposis, distal, type 2B (16.13, 3.14) | 601680 | |
Arthrogryposis, distal, type 2B (16.11, 16.14) | 601680 | |
Arthrogryposis, distal, type 5D (16.18) | 615065 | |
Asymmetric septal hypertrophy (10.53, 10.10, 10.95) | 192600 | |
ataxia telangiectasia (13.91) | 208900 | |
ataxia telangiectasia-like disorder (13.92) | 604391 | |
Ataxia telangiectasia-like disorder 2 (13.93) | 615919 | |
Ataxia with isolated vitamin E deficiency (13.55) | 277460 | |
Ataxia-pancytopenia syndrome (13.52) | 159550 | |
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (13.57) | 208920 | |
Ataxia, Friedreich-like, with selective vitamin E deficiency (13.55) | 277460 | |
Ataxia, posterior column, with retinitis pigmentosa (PCARP) (14.113) | 609033 | |
ataxia, spastic, 1, autosomal dominant (15.76, 11.33) | 108600 | |
ataxia, spastic, 2, autosomal recessive (15.77) | 611302 | |
ATFB18 (10.163) | 617280 | |
atrial fibillation, familial, 8 (10.152) | 613055 | ? - (16q22) |
Atrial fibrillation , 12 (10.50, 10.157) | 614050 | |
Atrial fibrillation, 1 (10.145) | 607554 | ? - (10q22-q24) |
Atrial fibrillation, 10 (10.125, 10.41, 10.164, 10.175, 10.154) | 614022 | |
Atrial fibrillation, 13 (10.168, 10.158) | 615377 | |
Atrial fibrillation, 14 (10.159) | 615378 | |
Atrial fibrillation, 15 (10.160) | 615770 | |
Atrial fibrillation, 16 (10.170, 10.161) | 613120 | |
Atrial fibrillation, 17 (10.133, 10.162) | 611819 | |
Atrial fibrillation, 2 (10.146) | 608988 | ? - (10q22-q24) |
Atrial fibrillation, 3 (10.143, 10.123, 10.147, 10.141) | 607554 | |
Atrial fibrillation, 4 (10.128, 10.148) | 611493 | |
Atrial fibrillation, 9 (10.142, 10.153, 10.129) | 613980 | |
atrial fibrillation, familial (10.151) | 612240 | |
atrial fibrillation, familial, 1 (10.155, 10.156) | 608583 | |
atrial fibrillation, familial, 5 (10.149) | 611494 | ? - (4q25) |
atrial fibrillation, familial, 6 (10.150) | 612201 | |
Autophagic vacuolar myopathy (5.17) | ||
Autosomal dominant myopathy with proximal muscle weakness and early respiratory (5.10, 3.26, 4.2, 1.39, 10.42, 10.8, 3.45, 3.33, 12.89) | 603689 | |
Autosomal recessive CMT axonal type 2S (12.5, 14.87) | 616155 | |
Autosomal recessive CMT2 related to DNAJB2 (12.9, 14.80) | ||
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (15.81, 13.94, 14.93) | 270550 | |
autosomal recessive spastic ataxia with leukoencephalopathy (15.78) | 611390 | |
Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency (13.64, 16.73) | 612016 | |
Axonal neuropathy intermediate recessive C (12.8, 14.84) | 615376 | |
Axonal neuropathy recessive (14.83) | 613641 | |
Axonal neuropathy with myotonia (14.81, 12.15) | 137200 |