Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
Cap myopathy, TPM2-related, included (3.7, 3.50, 16.9, 16.15) | 609285 | |
Cardiac and skeletal aggregate myopathy (5.14) | ||
Cardiac and skeletal aggregate myopathy (5.14) | ||
Cardiac arrhythmia syndrome, with or without skeletal muscle weakness (10.132) | 615441 | |
Cardiac conduction defect, progressive (10.138, 10.44, 10.177, 10.187, 10.167) | 113900 | |
cardiac valvular dysplasia, x-linked (10.114) | 314400 | |
Cardimyopathy, dilated, 1A (10.4, 3.53, 10.77, 10.113) | 115200 | |
Cardiomopathy, hypertrophic, mid-ventricular chamber type (10.7) | 160790 | |
cardiomyopathy, dilated 1C (5.5, 10.42, 4.19, 10.26, 10.106) | 601493 | |
Cardiomyopathy, dilated, 1A (1.3, 1.4, 10.40, 2.17, 14.88) | 115200 | |
Cardiomyopathy, dilated, 1CC (10.67, 10.21) | 613122 | |
Cardiomyopathy, dilated, 1D (10.2, 10.43, 10.98, 10.109) | 601494 | |
Cardiomyopathy, dilated, 1DD (10.68) | 613172 | |
Cardiomyopathy, dilated, 1E (10.138, 10.44, 10.177, 10.187, 10.167) | 601154 | |
Cardiomyopathy, dilated, 1EE (10.1, 10.69, 10.13, 10.189) | 613252 | |
Cardiomyopathy, dilated, 1FF (10.6, 10.96, 10.82, 10.70) | 613286 | |
Cardiomyopathy, dilated, 1G (5.10, 3.25, 4.4, 1.33, 10.45, 10.8, 3.30, 3.29, 12.98) | 604145 | |
Cardiomyopathy, dilated, 1GG (10.71) | 613642 | |
Cardiomyopathy, dilated, 1H (10.46) | 604288 | ? - (2q14-q22) |
Cardiomyopathy, dilated, 1J (10.48) | 605362 | |
Cardiomyopathy, dilated, 1K (10.49) | 605582 | ? - (6q12-q16) |
Cardiomyopathy, dilated, 1M (10.51, 10.11) | 607482 | |
Cardiomyopathy, dilated, 1O (10.53, 10.169) | 608569 | |
Cardiomyopathy, dilated, 1P (10.54, 10.19) | 609909 | |
Cardiomyopathy, dilated, 1Q (10.55) | 609915 | ? - (7q22.3-q31.1) |
Cardiomyopathy, dilated, 1R (10.56, 10.10, 10.107) | 102540 | |
Cardiomyopathy, dilated, 1S (4.6, 3.32, 10.57, 3.51, 10.108, 3.33) | 613426 | |
Cardiomyopathy, dilated, 1T (10.58) | 188380 | |
Cardiomyopathy, dilated, 1U (10.59) | 613694 | |
Cardiomyopathy, dilated, 1W (10.60) | 613697 | |
Cardiomyopathy, dilated, 1W (10.14, 10.61) | 611407 | |
Cardiomyopathy, dilated, 1X (2.35, 2.21, 10.62, ) | 611615 | |
Cardiomyopathy, dilated, 1Y (10.3, 10.63, 10.112) | 611878 | |
Cardiomyopathy, dilated, 1Z (10.12, 10.64) | 611879 | |
Cardiomyopathy, dilated, 2B (10.83) | 614672 | |
Cardiomyopathy, Dilated, 3B (1.1, 10.92) | 302045 | |
Cardiomyopathy, dilated, X-linked (1.1, 10.92) | 302045 | |
Cardiomyopathy, familial dilated, 1 (10.41) | 600884 | ? - (9q13) |
cardiomyopathy, familial hypertrophic (1.23, 6.6, 5.30, 6.7, 4.12, 10.144, 10.16) | 192600 | |
cardiomyopathy, familial hypertrophic (10.15) | 192600 | |
Cardiomyopathy, familial hypertrophic (10.6, 10.96, 10.82, 10.70) | 191044 | |
Cardiomyopathy, familial hypertrophic 1 (10.1, 10.69, 10.13, 10.189) | 192600 | |
Cardiomyopathy, familial hypertrophic 20 (10.67, 10.21) | ||
Cardiomyopathy, familial hypertrophic 27 (10.29) | 618052 | |
cardiomyopathy, familial hypertrophic, 1, included (4.6, 3.32, 10.57, 3.51, 10.108, 3.33) | 192600 | |
Cardiomyopathy, familial hypertrophic, 10 (10.9, ) | 608758 | |
Cardiomyopathy, familial hypertrophic, 11 (10.56, 10.10, 10.107) | 612098 | |
Cardiomyopathy, familial hypertrophic, 12 (10.51, 10.11) | 612124 | |
Cardiomyopathy, familial hypertrophic, 15 (10.14, 10.61) | 613255 | |
Cardiomyopathy, familial hypertrophic, 16 - CMH16 (10.17) | 613838 | |
Cardiomyopathy, familial hypertrophic, 17 (10.18, 10.86) | 613873 | |
Cardiomyopathy, familial hypertrophic, 18 (10.54, 10.19) | ||
Cardiomyopathy, familial hypertrophic, 2 (10.2, 10.43, 10.98, 10.109) | 115195 | |
Cardiomyopathy, familial hypertrophic, 26 (5.6, 4.8, 10.28, 10.100) | 617047 | |
Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies (10.31) | 620236 | |
Cardiomyopathy, familial hypertrophic, 3 (10.3, 10.63, 10.112) | 115196 | |
Cardiomyopathy, familial hypertrophic, 4 (10.4, 3.53, 10.77, 10.113) | 115197 | |
Cardiomyopathy, familial hypertrophic, 9 (5.10, 3.25, 4.4, 1.33, 10.45, 10.8, 3.30, 3.29, 12.98) | 188840 | |
Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome (10.5, 9.10) | 600858 | |
Cardiomyopathy, familial restrictive (10.6, 10.96, 10.82, 10.70) | 115210 | |
Cardiomyopathy, hypertrophic, 10 (10.9, ) | 160781 | |
Cardiomyopathy, X-linked dilated (10.91, 10.103) | 300069 | |
Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) (3.55) | 254940 | |
Carey-Fineman-Ziter syndrome 2 (3.56) | 619941 | |
Carnitine deficiency, systemic primary (9.19) | 212140 | |
Carnitine-acylcarnitine translocase deficiency (9.20) | 212138 | |
Central core disease (8.1, 3.27, 3.28, 3.24, 5.39, 3.26, 2.50, 16.31, 3.60) | 117000 | |
Centronuclear myopathy 2 (3.20) | 255200 | |
Centronuclear myopathy 4 (3.21) | 614807 | |
Centronuclear myopathy 5 (3.22) | 615959 | |
Centronuclear myopathy 6 with fiber-type disproportion (3.23) | 617760 | |
Centronuclear myopathy related to TTN (5.10, 3.25, 4.4, 1.33, 10.45, 10.8, 3.30, 3.29, 12.98) | ||
centronuclear myopathy, recessive (8.1, 3.27, 3.28, 3.24, 5.39, 3.26, 2.50, 16.31, 3.60) | 255200 | |
Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) (13.105) | 212840 | |
Cerebellar ataxia with neuropathy, hearing loss and intellectual disability (14.46, 16.65, 13.108) | ||
Cerebellar ataxia, congenital, nonprogressive, autosomal dominant (13.27) | 117360 | ? - (3p26) |
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (14.128) | 614575 | |
Cerebellar ataxia, paroxymal, acetazolamide-responsive (7.9, 13.6, 13.54, 7.10, 13.48) | 108500 | |
Cerebellar ataxia, pure (7.9, 13.6, 13.54, 7.10, 13.48) | 601011 | |
Chanarin-Dorfman syndrome (9.26) | 275630 | |
Charcot-Marie Tooth disease (14.41) | ||
Charcot-Marie Tooth disease related to CNTNAP1 (12.93, 14.42) | ||
Charcot-Marie Tooth disease, demyelinating type 1G (14.8) | 618279 | |
Charcot-Marie Tooth disease, intermediate (14.22) | ||
Charcot-Marie-Tooth disease with deafness and mental retardation (14.46, 16.65, 13.108) | 310490 | |
Charcot-Marie-Tooth disease, axonal (14.98) | ||
Charcot-Marie-Tooth disease, axonal (12.109, 14.102) | ||
Charcot-Marie-Tooth disease, axonal (15.39, 14.103) | ||
Charcot-Marie-Tooth disease, axonal (14.104) | ||
Charcot-Marie-Tooth disease, axonal, related to BAG3 (5.7, 10.72, 14.82) | ||
Charcot-Marie-Tooth disease, axonal, related to CRYAB (5.2, 10.73, 14.85) | ||
Charcot-Marie-Tooth disease, axonal, related to DHX9 (14.86) | ||
Charcot-Marie-Tooth disease, axonal, related to JAG1 (14.83) | ||
Charcot-Marie-Tooth disease, axonal, related to NOTCH2NLC (14.137, 5.24, 14.84) | ||
Charcot-Marie-Tooth disease, axonal, related to SCO2 (10.38, 14.99) | ||
Charcot-Marie-Tooth disease, axonal, type 20 (14.67, 12.40) | 614228 | |
Charcot-Marie-Tooth disease, axonal, type 2A2B (14.55, 14.87, 14.79) | 617087 | |
Charcot-Marie-Tooth disease, axonal, type 2B1 (1.3, 1.4, 10.40, 2.17, 14.88) | 605588 | |
Charcot-Marie-Tooth disease, axonal, type 2CC (12.78, 14.75) | 616924 | |
Charcot-Marie-Tooth disease, axonal, type 2D (14.58, 12.28) | 601472 | |
Charcot-Marie-Tooth disease, axonal, type 2DD (14.76, 14.14) | 618036 | |
Charcot-Marie-Tooth disease, axonal, type 2EE (14.90) | 618400 | |
Charcot-Marie-Tooth disease, axonal, type 2FF (14.77) | 619519 | |
Charcot-Marie-Tooth disease, axonal, type 2N (12.38, 14.66) | 613287 | |
Charcot-Marie-Tooth disease, axonal; related to SACS (15.93, 13.102, 14.100) | ||
Charcot-Marie-Tooth disease, congenital, vertical talus (14.10) | 192950 | |
Charcot-Marie-Tooth disease, dominant intermediate A (14.15, 12.46) | 606483 | |
Charcot-Marie-Tooth disease, dominant intermediate B (3.19, 2.15, 4.20, 14.16, 12.91) | 606482 | |
Charcot-Marie-Tooth disease, dominant intermediate D (14.2, 14.51, 14.62, 14.63, 14.35, 14.18) | 607791 | |
Charcot-Marie-Tooth disease, dominant intermediate G (14.7, 14.59, 14.21) | 617882 | |
Charcot-Marie-Tooth disease, intermediate, related to SARS1 (14.27) | ||
Charcot-Marie-Tooth disease, mixed axonal and demyelinating type (14.28, 14.64, 14.23) | 214400 | |
Charcot-Marie-Tooth disease, recessive intermediate, A (14.28, 14.64, 14.23) | 608340 | |
Charcot-Marie-Tooth disease, type 1, related to ATP1A1 (14.76, 14.14) | ||
Charcot-Marie-Tooth disease, type 1A (14.1, 14.50, 14.5, 14.6) | 118220 | |
Charcot-Marie-Tooth disease, type 1B (14.2, 14.51, 14.62, 14.63, 14.35, 14.18) | 118200 | |
Charcot-Marie-Tooth disease, type 1D (14.4, 14.34, 14.52) | 607678 | |
Charcot-Marie-Tooth disease, type 1E (14.1, 14.50, 14.5, 14.6) | 118300 | |
Charcot-Marie-Tooth disease, type 1F (14.7, 14.59, 14.21) | 607734 | |
Charcot-Marie-Tooth disease, type 2A1 (14.54) | 118210 | |
Charcot-Marie-Tooth disease, type 2B2 (14.89, 14.97) | 605589 | |
Charcot-Marie-Tooth disease, type 2E (14.7, 14.59, 14.21) | 607684 | |
Charcot-Marie-Tooth disease, type 2I (14.2, 14.51, 14.62, 14.63, 14.35, 14.18) | 607677 | |
Charcot-Marie-Tooth disease, type 2J (14.2, 14.51, 14.62, 14.63, 14.35, 14.18) | 607736 | |
Charcot-Marie-Tooth disease, type 2K (14.28, 14.64, 14.23) | 607831 | |
Charcot-Marie-Tooth disease, type 4A (14.28, 14.64, 14.23) | 214400 | |
Charcot-Marie-Tooth disease, type 4B1 (14.29) | 601382 | |
charcot-marie-tooth disease, type 4b2 (14.30) | 604563 | |
Charcot-Marie-Tooth disease, type 4D (14.33) | 601455 | |
Charcot-Marie-Tooth disease, type 4F (14.36, 14.53) | 145900 | |
charcot-marie-tooth disease, type 4j (14.39, 12.62) | 611228 | |
Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) (14.46, 16.65, 13.108) | 310490 | |
Charcot-Marie-Tooth disease, X-linked recessive related to DRP2 (14.49) | ||
charcot-marie-tooth disease, x-linked recessive, 2 (14.44) | 302801 | ? - (Xp22.2) |
charcot-marie-tooth disease, x-linked recessive, 3 (14.45) | 302802 | |
charcot-marie-tooth disease, x-linked recessive, 5 (14.47) | 311070 | |
Charcot-Marie-Tooth neuropathy (14.13) | ||
Charcot-Marie-Tooth neuropathy (14.9) | 619742 | |
Charcot-Marie-Tooth neuropathy Type 2B (14.56) | 600882 | |
Charcot-Marie-Tooth neuropathy Type 2F (14.60, 12.26) | 606595 | |
Charcot-Marie-Tooth neuropathy Type 2H (14.61) | 607731 | ? - (8q21.3) |
Charcot-Marie-Tooth neuropathy Type 2L (14.65, 12.25, 4.27, 4.28) | 608673 | |
Charcot-Marie-Tooth neuropathy Type 2P (14.68) | 614436 | |
Charcot-Marie-Tooth neuropathy Type 2Q (14.69) | 615025 | |
Charcot-Marie-Tooth neuropathy Type 2R (14.93) | 615490 | |
Charcot-Marie-Tooth neuropathy Type 2T (14.95, 13.40) | 617017 | |
Charcot-Marie-Tooth neuropathy Type 2U (14.70, 15.65) | 616280 | |
Charcot-Marie-Tooth neuropathy Type 2V (14.71) | 616491 | |
Charcot-Marie-Tooth neuropathy Type 2W (14.72) | 616625 | |
Charcot-Marie-Tooth neuropathy Type 2X (15.30, 12.56, 14.96) | 616668 | |
Charcot-Marie-Tooth neuropathy Type 2Y (5.35, 4.22, 12.65, 1.58, 14.73) | 616687 | |
Charcot-Marie-Tooth neuropathy Type 2Z (14.74) | 616688 | |
Charcot-Marie-Tooth neuropathy Type 4B3 (14.31) | ||
Charcot-Marie-Tooth neuropathy Type 4E (14.4, 14.34, 14.52) | 605253 | |
Charcot-Marie-Tooth neuropathy Type 4F (14.32) | 601596 | |
Charcot-Marie-Tooth neuropathy Type 4G (14.37) | 605285 | |
Charcot-Marie-Tooth neuropathy Type 4H (14.38) | 609311 | |
Charcot-Marie-Tooth neuropathy Type 4K (14.40) | ||
Charcot-Marie-Tooth neuropathy Type F (14.20) | 615185 | |
Charcot-Marie-Tooth neuropathy with glomerulopathy (14.19) | 614455 | |
Charcot-Marie-Tooth neuropathy X-linked 6 (14.48) | ||
charcot-marie-tooth neuropathy, dominant intermediate A ( | 606483 | ? - (10q24.1-q25.1) |
Charcot-Marie-Tooth neuropathy, dominant intermediate C (14.17) | 608323 | |
Charcot-Marie-Tooth neuropathy, with fibulin defect (14.12) | ||
Charcot-Marie-Tooth neuropathy, X-linked (14.43, 14.52) | 302800 | |
Charlevoix disease (14.129) | 218000 | |
CMT recessive intermediate D (14.26) | 616039 | |
CMT2 related to KIF5A (15.6, 14.80, 12.76) | ||
Coenzyme Q10 deficiency (13.110) | 619028 | |
Coenzyme Q10 deficiency 1 (16.74) | 607426 | |
Coenzyme Q10 deficiency 5 (16.76) | 614654 | |
Coenzyme Q10 deficiency 6 (16.77) | 614650 | |
Coenzyme Q10 deficiency 7 (16.78) | ||
Coenzyme Q10 deficiency 8 (16.79, 12.21) | 616733 | |
COL12A1-related congenital muscular dystrophy (2.9, 2.10, 2.11) | ||
Combined oxidative phosphorylation deficiency (16.68) | 619012 | |
Combined oxidative phosphorylation deficiency 43 (16.66) | 618851 | |
Combined oxidative phosphorylation deficiency 44 (16.67) | 618855 | |
Combined oxidative phosphorylation deficiency 50 (16.69) | 619025 | |
Combined Oxidative phosphorylation Deficiency 6 (14.46, 16.65, 13.108) | 300816 | |
Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge (12.100, 14.135, 12.22) | ||
Congenital amyotrophy (5.50) | ||
congenital cataracts, facial dysmorphism, and neuropathy (14.134) | 604168 | |
Congenital disorder of glycosylation type 1 (2.42) | 609180 | |
Congenital muscle dystrophy with mitochondrial structural abnormalities (2.44) | 602541 | |
Congenital muscular dystrophy (2.45) | 604801 | ? - (1q42) |
Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se (2.43) | ||
Congenital muscular dystrophy due to LMNA defect (L-CMD) (1.3, 1.4, 10.40, 2.17, 14.88) | ||
Congenital muscular dystrophy related to TRAPPC2L (2.54) | ||
Congenital muscular dystrophy with epilepsy (2.53) | ||
Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype (1.36, 2.51) | ||
Congenital muscular dystrophy with hypoglycosylation of dystroglycan (2.41) | 608799 | |
Congenital muscular dystrophy with hypoglycosylation of dystroglycan ( | 300884 | |
Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 (2.29, 1.54) | 615249 | |
Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 (2.27) | 615041 | |
Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 (1.53, 2.26) | 616538 | |
Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li (2.28) | 615181 | |
Congenital muscular dystrophy with integrin defect (2.14) | ||
Congenital muscular dystrophy with merosin deficiency (2.45) | 604801 | ? - (1q42) |
Congenital musuclar dystrophy with telethonin defect (1.31, 10.52, 2.16, 10.27) | ||
Congenital myasthenic syndrome (11.25) | 616304 | |
Congenital myasthenic syndrome (1.9, 11.41) | ||
Congenital myasthenic syndrome (11.42) | ||
Congenital Myasthenic syndrome related to GMPPB (1.55, 2.38, 2.31, 11.37) | ||
Congenital myasthenic syndrome related to MuSK (11.17, 16.27) | 608931 | |
Congenital myasthenic syndrome related to RPH3A (11.40) | ||
Congenital myasthenic syndrome type 19 (11.27) | 616720 | |
Congenital myasthenic syndrome with choline acetyltransferase deficiency (11.13) | 254210 | |
Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency (11.12) | 603034 | |
Congenital myasthenic syndrome with episodic apnea (11.28, 12.30) | 617143 | |
Congenital myasthenic syndrome with intellectual disability and ataxia (11.26) | 616330 | |
Congenital myasthenic syndrome with nephrotic syndrome (11.34) | 614199 | |
Congenital myopathy 10A, severe variant (3.38, 3.37) | 614399 | |
Congenital myopathy 10B, mild variant (3.38, 3.37) | 620249 | |
Congenital Myopathy 11 (10.120, 3.39) | 619967 | |
Congenital myopathy 12 (3.40) | 612540 | |
Congenital myopathy 13 (3.41, 3.57) | 255995 | |
Congenital myopathy 14 (3.42) | 618414 | |
Congenital myopathy 15 (3.43) | 620161 | |
Congenital myopathy 16 (16.10, 12.90, 3.44) | 618524 | |
Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia (8.1, 3.27, 3.28, 3.24, 5.39, 3.26, 2.50, 16.31, 3.60) | 117000 | |
Congenital myopathy 1B, recessive (8.1, 3.27, 3.28, 3.24, 5.39, 3.26, 2.50, 16.31, 3.60) | 255320 | |
Congenital Myopathy 22A, classic (7.3, 7.6, 7.4, 7.7, 11.24, 3.48, 16.33, 3.49) | 620351 | |
Congenital Myopathy 22B, severe fetal (7.3, 7.6, 7.4, 7.7, 11.24, 3.48, 16.33, 3.49) | 620369 | |
Congenital myopathy 2A, typical (3.2, 3.52, 3.1, 3.3) | 161800 | |
Congenital myopathy 2B, severe infantile (3.2, 3.52, 3.1, 3.3) | 161800 | |
Congenital myopathy 2C, severe infantile, dominant (3.2, 3.52, 3.1, 3.3) | 620278 | |
Congenital myopathy 5 with cardiomyopathy (formerly Salih myopathy) (5.10, 3.25, 4.4, 1.33, 10.45, 10.8, 3.30, 3.29, 12.98) | 611705 | |
Congenital myopathy 6 with ophtalmoplegia (3.31) | 605637 | |
Congenital myopathy 7A, myosin storage, autosomal dominant (4.6, 3.32, 10.57, 3.51, 10.108, 3.33) | 608358 | |
Congenital myopathy 7B, myosin storage, autosomal recessive (4.6, 3.32, 10.57, 3.51, 10.108, 3.33) | 255160 | |
Congenital myopathy 8 (10.65, 10.25, 3.34, 4.10) | 618654 | |
Congenital myopathy 9A (3.35, 3.36) | 618822 | |
Congenital myopathy 9B, proximal with minicore (3.35, 3.36) | 618823 | |
Congenital Myopathy related to PYROXD1 (5.9, 1.60, 3.59) | ||
Congenital Myopathy related to TNPO3 (1.17, ) | ||
Congenital myopathy with fatal cardiomyopathy (5.10, 3.25, 4.4, 1.33, 10.45, 10.8, 3.30, 3.29, 12.98) | ||
Congenital myopathy with ophthalmoplegia related to CACNA1S (7.8, 8.5, 3.54, 1.24, 3.46) | ||
congenital skeletal myopathy and fatal cardiomyopathy (10.4, 3.53, 10.77, 10.113) | ||
CPT deficiency, hepatic, type II (9.18) | 600649 | |
CRASH syndrome (15.84) | 303350 | |
CRASH syndrome (15.84) | 307000 | |
Creatine phosphokinase, elevated serum (1.23, 6.6, 5.30, 6.7, 4.12, 10.144, 10.16) | 123320 | |
Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) (1.23, 6.6, 5.30, 6.7, 4.12, 10.144, 10.16) | 123320 |