Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
Sarcotubular myopathy (1.32, 5.42) | ||
Scapuloperoneal muscular dystrophy and dropped head syndrome (5.35, 4.22, 12.65, 1.58, 14.73) | 600416 | |
Scapuloperoneal myopathy, X-linked dominant (1.7, 5.31, 5.32, 5.33) | 300695 | |
Scapuloperoneal spinal muscular atrophy (12.31, 12.11, 14.57) | 181405 | |
Schwartz-Jampel syndrome, type 1 (6.8) | 255800 | |
Segmental amyoplasia with Distal Arthrogryposis (16.84) | 619110 | |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (16.34, 13.98, 16.40, 16.49, 16.48) | 607459 | |
Severe autosomal-recessive nemaline myopathy (3.11) | 615348 | |
Severe foetal hypokinesia related to SCN4A (7.3, 7.6, 7.4, 7.7, 11.24, 3.48, 16.33, 3.49) | ||
Short qt syndrome 1 (10.137, 10.153) | 609620 | |
Sick Sinus Syndrome 1, autosomal recessive (10.138, 10.44, 10.177, 10.187, 10.167) | 608567 | |
Sick Sinus Syndrome 2, autosomal dominant (10.188, 10.184) | 163800 | |
Sick sinus syndrome 3 (10.1, 10.69, 10.13, 10.189) | 614090 | |
Sjogren-Larsson syndrome (15.80) | 270200 | |
Slowed nerve conduction velocity, autosomal dominant (14.11) | 608236 | |
Sodium-channel myasthenia (7.3, 7.6, 7.4, 7.7, 11.24, 3.48, 16.33, 3.49) | ||
Sorbitol dehydrogenase deficiency with peripheral neuropathy (14.101, 12.20) | 618912 | |
Spastic ataxia 4 autosomal recessive (15.91) | 613672 | |
Spastic ataxia 5 autosomal recessive (13.26, 15.92) | 614487 | |
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy (15.94) | 617560 | |
Spastic ataxia 9, autosomal recessive (15.95) | 618438 | |
Spastic ataxia Charlevoix-Saguenay type (15.93, 13.102, 14.100) | 270550 | |
Spastic ataxia, Charlevoix-Saguenay type (15.93, 13.102, 14.100) | 604490 | |
Spastic paralysis, infantile onset ascending (12.53, 15.81) | 607225 | |
Spastic paraplegia 2 (15.85) | 312920 | |
Spastic paraplegia 4 (15.2) | 182601 | |
Spastic paraplegia 5A (15.27) | 270800 | |
Spastic paraplegia 6 uncomplicated,autosomal dominant,Strumpell-Lorrain type (15.3) | 600363 | |
Spastic paraplegia 7 (15.28) | 607259 | |
Spastic paraplegia 8 (15.4) | 603563 | |
Spastic paraplegia 9 (15.5, 15.29) | 601162 | |
Spastic paraplegia 10 (15.6, 14.80, 12.76) | 604187 | |
Spastic paraplegia 11 (15.30, 12.56, 14.96) | 604360 | |
Spastic paraplegia 12 (15.7) | 604805 | |
Spastic paraplegia 13 (15.8) | 605280 | |
Spastic paraplegia 14 (15.31) | 605229 | ? - (3q27-q28) |
Spastic paraplegia 15 (15.32) | 270700 | |
Spastic paraplegia 16 (15.86) | 300266 | ? - (Xq11.2-q23) |
Spastic paraplegia 17 (15.9, 12.36) | 270685 | |
Spastic paraplegia 18 (15.33, 15.10) | 611225 | |
Spastic paraplegia 18A7, autosomal dominant (15.33, 15.10) | 620512 | |
Spastic paraplegia 19 (15.11) | 607152 | ? - (9q33-q34) |
Spastic paraplegia 20 (15.34) | 275900 | |
Spastic paraplegia 20 (15.35) | 248900 | |
Spastic paraplegia 20 (15.41) | 609340 | |
Spastic paraplegia 23 (15.36) | 270750 | ? - (1q24-q32) |
Spastic paraplegia 24 (15.37) | 607584 | ? - (13q14) |
Spastic paraplegia 25 (15.38) | 608220 | ? - (6q23.3-q24.1) |
Spastic paraplegia 26 (15.39, 14.103) | 609195 | |
Spastic paraplegia 27 (15.40) | 609041 | ? - (10q22.1-q24.1) |
Spastic paraplegia 29 (15.12) | 609727 | ? - (1p31-p21) |
Spastic paraplegia 3, autosomal dominant (Strumpell disease) (15.1, 14.118) | 182600 | |
Spastic paraplegia 30 (15.42, 14.121, 15.13) | 610357 | |
Spastic paraplegia 31 (15.14, 12.35, 12.18) | 610250 | |
spastic paraplegia 32, autosomal recessive (15.43) | 611252 | ? - (14q12-q21) |
Spastic paraplegia 33 (15.15) | 610244 | |
Spastic paraplegia 34, X-linked (15.87) | 300750 | ? - (Xq24-q25) |
Spastic paraplegia 35, autosomal recessive (15.44) | 612319 | |
Spastic paraplegia 36, autosomal dominant (15.16) | 613096 | ? - (12q23-q24) |
Spastic paraplegia 37, autosomal dominant (15.17) | 611945 | ? - (8p21.1-q13.3) |
Spastic paraplegia 38, autosomal dominant (15.18) | 612335 | ? - (4p16-p15) |
Spastic paraplegia 39, autosomal recessive (15.45) | 612020 | |
Spastic paraplegia 41, autosomal dominant (15.19) | 613364 | ? - (11p14.1-p11.2) |
Spastic paraplegia 42, autosomal dominant (15.20) | 612539 | |
Spastic paraplegia 43, autosomal recessive (15.46) | 615043 | |
Spastic paraplegia 44, autosomal recessive (15.47) | 613206 | |
Spastic paraplegia 45, autosomal recessive (15.48) | 613162 | |
Spastic paraplegia 46, autosomal recessive (15.49) | 614409 | |
Spastic paraplegia 47, autosomal recessive (15.50) | ||
Spastic paraplegia 48, autosomal recessive (15.51) | 613647 | |
Spastic paraplegia 49, autosomal recessive (15.52) | ||
Spastic paraplegia 50, autosomal recessive (15.53) | 612936 | |
Spastic paraplegia 51, autosomal recessive (15.54) | 613744 | |
Spastic paraplegia 52, autosomal recessive (15.55) | 614067 | |
Spastic paraplegia 53, autosomal recessive (15.56) | 614898 | |
Spastic paraplegia 54, autosomal recessive (15.57) | 615033 | |
Spastic paraplegia 55, autosomal recessive (15.58) | 615035 | |
Spastic paraplegia 56, autosomal recessive (15.59) | 615030 | |
Spastic paraplegia 57, autosomal recessive (14.78, 15.60) | 615158 | |
Spastic paraplegia 61, autosomal recessive (15.61) | 615685 | |
Spastic paraplegia 62 autosomal recessive (15.62) | 615681 | |
Spastic paraplegia 63, autosomal recessive (15.63) | 615686 | |
Spastic paraplegia 64, autosomal recessive (15.64) | 615683 | |
Spastic paraplegia 70, autosomal recessive (14.70, 15.65) | 620323 | |
Spastic paraplegia 72, autosomal dominant (15.66, 15.21) | 615625 | |
Spastic paraplegia 72, autosomal recessive (15.66, 15.21) | 615625 | |
Spastic paraplegia 73, autosomal dominant (15.22) | 616282 | |
Spastic paraplegia 74, autosomal recessive (15.67) | 616451 | |
Spastic paraplegia 75, autosomal recessive (15.68) | 616680 | |
Spastic paraplegia 76, autosomal recessive (15.69, 12.10) | 616907 | |
Spastic paraplegia 77, autosomal recessive (15.70) | 617046 | |
Spastic paraplegia 78, autosomal recessive (15.71) | 617225 | |
Spastic paraplegia 79, autosomal dominant (15.72, 15.23) | 620221 | |
Spastic paraplegia 79, autosomal recessive (15.72, 15.23) | 615491 | |
Spastic paraplegia 80, autosomal dominant (15.24) | 618418 | |
Spastic paraplegia 81, autosomal recessive (15.73) | 618768 | |
Spastic paraplegia 82, autosomal recessive (15.74) | 618770 | |
Spastic paraplegia 83, autosomal recessive (15.75) | 619027 | |
Spastic paraplegia 84, autosomal recessive (15.76) | 619621 | |
Spastic paraplegia 85, autosomal recessive (15.77) | 619686 | |
Spastic paraplegia 86, autosomal recessive (15.78) | 619966 | |
Spastic paraplegia 87, autosomal recessive (15.79) | 619966 | |
Spastic paraplegia 88, autosomal dominant (15.25) | 620106 | |
Spastic paraplegia 9A, autosomal recessive (15.5, 15.29) | 616586 | |
Spastic paraplegia and psychomotor retardation with or without seizures (15.83) | 616756 | |
Spastic paraplegia, intellectual disability, nystagmus, and obesity (15.26) | 617296 | |
Spastic paraplegia, optic atrophy, and neuropathy (15.82) | 609541 | |
Spectraplakinopathy (16.81) | ||
Spheroid body myopathy (5.3, 5.4, 4.16, ) | 182920 | |
Spinal and bulbar muscular atrophy of Kennedy (12.47) | 313200 | |
Spinal motor neuropathy (12.12) | ||
Spinal muscular atrophy 1 (12.1, 12.3, 12.2, 12.4) | 253300 | |
Spinal muscular atrophy 2 (12.1, 12.3, 12.2, 12.4) | 253550 | |
Spinal muscular atrophy 3 (12.1, 12.3, 12.2, 12.4) | 253400 | |
Spinal muscular atrophy 4 (12.1, 12.3, 12.2, 12.4) | 271150 | |
Spinal muscular atrophy and cerebellar hypoplasia (12.8) | ||
Spinal muscular atrophy congenital non progressive of lower limbs (12.31, 12.11, 14.57) | 600175 | |
Spinal Muscular Atrophy type IV related to CAPN1 (15.69, 12.10) | ||
Spinal muscular atrophy with congenital bone fractures 1 (2.47, 12.5) | 616866 | |
Spinal muscular atrophy with congenital bone fractures 2 (12.6, 16.25) | 616867 | |
Spinal muscular atrophy with pontocerebellar hypoplasia related to KIF26B (12.106) | ||
Spinal muscular atrophy with pontocerebellar hypoplasia, type 1b (12.99) | 614678 | |
Spinal muscular atrophy with progressive myoclonic epilepsy (12.7) | 159950 | |
Spinal muscular atrophy with respiratory distress (12.13, 14.94) | 604320 | |
Spinal muscular atrophy with respiratory distress (SMARD) (12.50) | ||
Spinal muscular atrophy, congenital benin, with contractures (12.31, 12.11, 14.57) | 600175 | |
Spinal muscular atrophy, distal related to DNAJB2 (12.17, 14.91) | ||
Spinal muscular atrophy, distal, autosomal recessive (12.100, 14.135, 12.22) | ||
spinal muscular atrophy, distal, autosomal recessive, 2 (12.14, 12.67) | 605726 | |
spinal muscular atrophy, distal, autosomal recessive, 3 (12.15) | 607088 | ? - (11q13) |
spinal muscular atrophy, distal, autosomal recessive, 4 (12.16, 14.25) | 611067 | |
Spinal muscular atrophy, distal, autosomal recessive, 5 (12.17, 14.91) | 614881 | |
Spinal muscular atrophy, distal, type V (14.58, 12.28) | 600794 | |
Spinal muscular atrophy, distal, x-linked 3 (12.49) | 300489 | |
Spinal muscular atrophy, distal, X-linked, 2 (12.48) | ||
Spinal muscular atrophy, distal, Xlinked, related to UBA1 (12.48) | 301830 | |
Spinal muscular atrophy, late-onset, Finkel type (12.59, 12.43) | 182980 | |
Spinal muscular atrophy, lower extremity-predominant, autosomal dominant 2B (12.41, 12.42, 16.24) | 618291 | |
Spinal muscular atrophy, lower extremity, autosomal dominant (14.67, 12.40) | 158600 | |
Spinal muscular atrophy, lower extremity, autosomal dominant 2 (12.41, 12.42, 16.24) | 615290 | |
Spinal muscular atrophy, related to PRUNE1 (12.105) | ||
Spinobulbar muscular atrophy (SBMA)
(12.81, 12.113) | ||
Spinocerebellar ataxia (13.91) | 619422 | |
Spinocerebellar ataxia (13.89) | 619389 | |
Spinocerebellar ataxia 1 (13.1) | 164400 | |
Spinocerebellar ataxia 2 (13.2, 12.64) | 183090 | |
Spinocerebellar ataxia 3 (13.3) | 109150 | |
Spinocerebellar ataxia 4 (13.4) | 600223 | ? - (16q22.1) |
Spinocerebellar ataxia 5 (13.5, 13.74) | 600224 | |
Spinocerebellar ataxia 6 (7.9, 13.6, 13.54, 7.10, 13.48) | 183086 | |
Spinocerebellar ataxia 7 (13.7) | 164500 | |
Spinocerebellar ataxia 8 (13.8) | 603680 | |
Spinocerebellar ataxia 10 (13.9) | 603516 | |
Spinocerebellar ataxia 11 (13.10) | 604432 | |
Spinocerebellar ataxia 12 (13.11) | 604326 | |
Spinocerebellar ataxia 13 (13.12) | 605259 | |
Spinocerebellar ataxia 14 (13.13) | 605361 | |
Spinocerebellar ataxia 15 (13.14) | 606658 | |
Spinocerebellar ataxia 17 (13.15) | 607136 | |
Spinocerebellar ataxia 18 (13.16) | 607458 | |
Spinocerebellar ataxia 19 (13.19) | 607454 | |
Spinocerebellar ataxia 19 (13.17, 10.185) | 607346 | |
Spinocerebellar ataxia 20 (13.18) | 608687 | ? - (11q12.2-11q12.3) |
Spinocerebellar ataxia 21 (13.20) | ? - (1p21-q23) | |
Spinocerebellar ataxia 23 (13.21) | 610245 | |
Spinocerebellar ataxia 25 (13.22) | 608703 | ? - (2p21-p13) |
Spinocerebellar ataxia 26 (13.23) | 609306 | |
Spinocerebellar ataxia 27A (13.24, 13.25) | 609307 | |
Spinocerebellar ataxia 27B, late onset (13.24, 13.25) | 609307 | |
Spinocerebellar ataxia 28 (13.26, 15.92) | 610246 | |
Spinocerebellar ataxia 30 (13.28) | 613371 | ? - (4q34.3-q35.1) |
Spinocerebellar ataxia 31 (13.33) | 614153 | |
Spinocerebellar ataxia 32 (13.30) | 613909 | ? - (7q32-q33) |
Spinocerebellar ataxia 34 (13.31) | 133190 | |
Spinocerebellar ataxia 35 (13.32) | 613908 | |
Spinocerebellar ataxia 37 (13.34) | 615915 | ? - (1p32) |
Spinocerebellar ataxia 38 (13.35) | 615957 | |
Spinocerebellar ataxia 40 (13.36) | 616053 | |
Spinocerebellar ataxia 41 (13.37) | 616410 | |
Spinocerebellar ataxia 42 (13.38, 13.39) | 616795 | |
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (13.38, 13.39) | 618087 | |
Spinocerebellar ataxia 44 (13.41, 13.73) | 617691 | |
Spinocerebellar ataxia 45 (13.42) | 617769 | |
Spinocerebellar ataxia 46 (13.43) | 617770 | |
Spinocerebellar ataxia 47 (13.44) | 617931 | |
Spinocerebellar ataxia 48 (13.76, 13.45) | 618093 | |
Spinocerebellar ataxia 49 (13.56, 13.46) | 619806 | |
Spinocerebellar ataxia 50 (13.47) | 620158 | |
Spinocerebellar ataxia with axonal neuropathy type 2 (12.55, 13.95) | 606002 | |
Spinocerebellar ataxia with axonal neuropathy type 3 (13.96) | ||
spinocerebellar ataxia with epilepsy, included (16.34, 13.98, 16.40, 16.49, 16.48) | 607459 | |
spinocerebellar ataxia-31 (13.29) | 117210 | |
Spinocerebellar ataxia, autosomal recessive 1 (12.55, 13.95) | 606002 | |
Spinocerebellar ataxia, autosomal recessive 10 (13.70) | 613728 | |
Spinocerebellar ataxia, autosomal recessive 11 (13.71) | 614229 | |
Spinocerebellar ataxia, autosomal recessive 12 (13.72) | 614322 | |
Spinocerebellar ataxia, autosomal recessive 13 (13.41, 13.73) | 614831 | |
Spinocerebellar ataxia, autosomal recessive 14 (13.5, 13.74) | 615386 | |
Spinocerebellar ataxia, autosomal recessive 15 (13.75) | 615705 | |
Spinocerebellar ataxia, autosomal recessive 16 (13.76, 13.45) | 615768 | |
Spinocerebellar ataxia, autosomal recessive 17 (13.77) | 616127 | |
Spinocerebellar ataxia, autosomal recessive 18 (13.78) | 616204 | |
Spinocerebellar ataxia, autosomal recessive 19 (13.79) | 616291 | |
Spinocerebellar ataxia, autosomal recessive 20 (13.80) | 616719 | |
Spinocerebellar ataxia, autosomal recessive 21 (13.81) | 616719 | |
Spinocerebellar ataxia, autosomal recessive 22 (13.82) | 616948 | |
Spinocerebellar ataxia, autosomal recessive 23 (13.83) | 616949 | |
Spinocerebellar ataxia, autosomal recessive 24 (13.84) | 617133 | |
Spinocerebellar ataxia, autosomal recessive 25 (13.85) | 617584 | |
Spinocerebellar ataxia, autosomal recessive 26 (13.86) | 617633 | |
Spinocerebellar ataxia, autosomal recessive 27 (13.87) | 618369 | |
Spinocerebellar ataxia, autosomal recessive 28 (13.88) | 618800 | |
Spinocerebellar ataxia, autosomal recessive 3 (13.63) | 271250 | ? - (6p23-p21) |
Spinocerebellar ataxia, autosomal recessive 30 (13.90) | 619405 | |
Spinocerebellar ataxia, autosomal recessive 32 (13.92) | 619862 | |
Spinocerebellar ataxia, autosomal recessive 33 (13.93) | 620208 | |
Spinocerebellar ataxia, autosomal recessive 4 (13.64) | 607317 | |
Spinocerebellar ataxia, autosomal recessive 6 (13.66) | ? - (20q11-q13) | |
Spinocerebellar ataxia, autosomal recessive 7 (13.67) | 609270 | |
Spinocerebellar ataxia, autosomal recessive 8 (1.5, 13.68, 16.23, 10.93) | 610743 | |
spinocerebellar ataxia, autosomal recessive 9 (13.69, 16.75) | 612016 | |
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy (13.94) | 607250 | |
Spinocerebellar ataxia, infantile-onset, with sensory neuropathy (13.60, 16.36) | 271245 | |
Spinocerebellar Ataxia, type 43 (14.95, 13.40) | 617018 | |
Steinert disease (6.1) | 160900 | |
Susceptibility to amyotrophic lateral sclerosis related to dynactin 1 (12.37, 12.80) | 105400 | |
Susceptibility to amyotrophic lateral sclerosis related to NEFH (12.78, 14.75) | 105400 | |
Susceptibility to amyotrophic lateral sclerosis related to peripherin (12.79) | 105400 |