Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
Cap myopathy, TPM2-related, included (3.4, 3.42, 16.9, 16.15) | 609285 | |
Cardiac and skeletal aggregate myopathy (5.13) | ||
Cardiac and skeletal aggregate myopathy (5.13) | ||
Cardiac conduction defect, progressive (10.125, 10.41, 10.164, 10.175, 10.154) | 113900 | |
cardiac valvular dysplasia, x-linked (10.102) | 314400 | |
Cardimyopathy, dilated, 1A (10.4, 3.46, 10.74, 10.101) | 115200 | |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (10.35, 14.92) | 604377 | |
Cardiomopathy, hypertrophic, mid-ventricular chamber type (10.7) | 160790 | |
cardiomyopathy, dilated 1C (5.5, 10.39, 4.14, 10.25, 10.94) | 601493 | |
Cardiomyopathy, dilated, 1A (1.4, 1.26, 1.5, 10.37, 2.17, 14.77) | 115200 | |
Cardiomyopathy, dilated, 1CC (10.64, 10.21) | 613122 | |
Cardiomyopathy, dilated, 1D (10.2, 10.40, 10.87, 10.97) | 601494 | |
Cardiomyopathy, dilated, 1DD (10.65) | 613172 | |
Cardiomyopathy, dilated, 1E (10.125, 10.41, 10.164, 10.175, 10.154) | 601154 | |
Cardiomyopathy, dilated, 1EE (10.1, 10.66, 10.13, 10.176) | 613252 | |
Cardiomyopathy, dilated, 1FF (10.6, 10.85, 10.78, 10.67) | 613286 | |
Cardiomyopathy, dilated, 1G (5.10, 3.26, 4.2, 1.39, 10.42, 10.8, 3.45, 3.33, 12.89) | 604145 | |
Cardiomyopathy, dilated, 1GG (10.68) | 613642 | |
Cardiomyopathy, dilated, 1H (10.43) | 604288 | ? - (2q14-q22) |
Cardiomyopathy, dilated, 1J (10.45) | 605362 | |
Cardiomyopathy, dilated, 1K (10.46) | 605582 | ? - (6q12-q16) |
Cardiomyopathy, dilated, 1M (10.48, 10.11) | 607482 | |
Cardiomyopathy, dilated, 1O (10.50, 10.157) | 608569 | |
Cardiomyopathy, dilated, 1P (10.51, 10.19) | 609909 | |
Cardiomyopathy, dilated, 1Q (10.52) | 609915 | ? - (7q22.3-q31.1) |
Cardiomyopathy, dilated, 1R (10.53, 10.10, 10.95) | 102540 | |
Cardiomyopathy, dilated, 1S (4.4, 3.36, 10.54, 3.38, 3.19, 10.96, 3.64, 3.37) | 613426 | |
Cardiomyopathy, dilated, 1T (10.55) | 188380 | |
Cardiomyopathy, dilated, 1U (10.56) | 613694 | |
Cardiomyopathy, dilated, 1W (10.57) | 613697 | |
Cardiomyopathy, dilated, 1W (10.14, 10.58) | 611407 | |
Cardiomyopathy, dilated, 1X (2.18, 2.19, 10.59, 1.42) | 611615 | |
Cardiomyopathy, dilated, 1Y (10.3, 10.60, 10.100) | 611878 | |
Cardiomyopathy, dilated, 1Z (10.12, 10.61) | 611879 | |
Cardiomyopathy, dilated, 2B (10.79) | 614672 | |
Cardiomyopathy, Dilated, 3B (1.1, 10.81) | 302045 | |
Cardiomyopathy, dilated, X-linked (1.1, 10.81) | 302045 | |
Cardiomyopathy, familial dilated, 1 (10.38) | 600884 | ? - (9q13) |
cardiomyopathy, familial hypertrophic (1.27, 6.6, 5.24, 6.7, 4.13, 10.132, 10.16) | 192600 | |
cardiomyopathy, familial hypertrophic (10.15) | 192600 | |
Cardiomyopathy, familial hypertrophic (10.6, 10.85, 10.78, 10.67) | 191044 | |
Cardiomyopathy, familial hypertrophic 1 (10.1, 10.66, 10.13, 10.176) | 192600 | |
Cardiomyopathy, familial hypertrophic 20 (10.64, 10.21) | ||
Cardiomyopathy, familial hypertrophic 27 (10.28) | 618052 | |
cardiomyopathy, familial hypertrophic, 1, included (4.4, 3.36, 10.54, 3.38, 3.19, 10.96, 3.64, 3.37) | 192600 | |
Cardiomyopathy, familial hypertrophic, 10 (10.9, 3.20) | 608758 | |
Cardiomyopathy, familial hypertrophic, 11 (10.53, 10.10, 10.95) | 612098 | |
Cardiomyopathy, familial hypertrophic, 12 (10.48, 10.11) | 612124 | |
Cardiomyopathy, familial hypertrophic, 15 (10.14, 10.58) | 613255 | |
Cardiomyopathy, familial hypertrophic, 16 - CMH16 (10.17) | 613838 | |
Cardiomyopathy, familial hypertrophic, 17 (10.18) | 613873 | |
Cardiomyopathy, familial hypertrophic, 18 (10.51, 10.19) | ||
Cardiomyopathy, familial hypertrophic, 2 (10.2, 10.40, 10.87, 10.97) | 115195 | |
Cardiomyopathy, familial hypertrophic, 26 (5.6, 4.18, 10.27, 10.89) | 617047 | |
Cardiomyopathy, familial hypertrophic, 3 (10.3, 10.60, 10.100) | 115196 | |
Cardiomyopathy, familial hypertrophic, 4 (10.4, 3.46, 10.74, 10.101) | 115197 | |
Cardiomyopathy, familial hypertrophic, 9 (5.10, 3.26, 4.2, 1.39, 10.42, 10.8, 3.45, 3.33, 12.89) | 188840 | |
Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome (10.5, 9.10) | 600858 | |
Cardiomyopathy, familial restrictive (10.6, 10.85, 10.78, 10.67) | 115210 | |
Cardiomyopathy, hypertrophic, 10 (10.9, 3.20) | 160781 | |
Cardiomyopathy, X-linked dilated (10.80, 10.91) | 300069 | |
Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) (3.53) | 254940 | |
Carnitine deficiency, systemic primary (9.19) | 212140 | |
Carnitine-acylcarnitine translocase deficiency (9.20) | 212138 | |
Central core disease (8.1, 3.30, 3.31, 3.44, 3.25, 3.18, 5.32, 3.29, 2.53, 16.30, 3.66) | 117000 | |
Centronuclear myopathy 2 (3.24) | 255200 | |
Centronuclear myopathy 4 (3.28) | 614807 | |
Centronuclear myopathy 6 with fiber-type disproportion (3.21) | 617760 | |
Centronuclear myopathy related to TTN (5.10, 3.26, 4.2, 1.39, 10.42, 10.8, 3.45, 3.33, 12.89) | ||
Centronuclear myopathy with dilated cardiomyopathy (3.27) | ||
centronuclear myopathy, recessive (8.1, 3.30, 3.31, 3.44, 3.25, 3.18, 5.32, 3.29, 2.53, 16.30, 3.66) | 255200 | |
Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) (13.97) | 212840 | |
Cerebellar ataxia with neuropathy, hearing loss and intellectual disability (14.39, 16.64, 13.100) | ||
Cerebellar ataxia, congenital, nonprogressive, autosomal dominant (13.26) | 117360 | ? - (3p26) |
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (14.119) | 614575 | |
Cerebellar ataxia, paroxymal, acetazolamide-responsive (7.9, 13.6, 13.50, 7.10, 13.45) | 108500 | |
Cerebellar ataxia, pure (7.9, 13.6, 13.50, 7.10, 13.45) | 601011 | |
Chanarin-Dorfman syndrome (9.26) | 275630 | |
Charcot-Marie Tooth disease (14.34) | ||
Charcot-Marie Tooth disease related to CNTNAP1 (12.84, 14.35) | ||
Charcot-Marie Tooth disease, demyelinating type 1G (14.8) | 618279 | |
Charcot-Marie Tooth disease, intermediate (14.20) | ||
Charcot-Marie-Tooth 2 (14.62) | ||
Charcot-Marie-Tooth disease with deafness and mental retardation (14.39, 16.64, 13.100) | 310490 | |
Charcot-Marie-Tooth disease, axonal (14.91) | ||
Charcot-Marie-Tooth disease, axonal (12.100, 14.95) | ||
Charcot-Marie-Tooth disease, axonal (15.35, 14.96) | ||
Charcot-Marie-Tooth disease, axonal, related to BAG3 (5.7, 10.69, 14.74) | ||
Charcot-Marie-Tooth disease, axonal, related to JAG1 (14.75) | ||
Charcot-Marie-Tooth disease, axonal, related to SCO2 (10.35, 14.92) | ||
Charcot-Marie-Tooth disease, axonal, type 20 (14.59, 12.32) | 614228 | |
Charcot-Marie-Tooth disease, axonal, type 2A2B (14.47, 14.76, 14.71) | 617087 | |
Charcot-Marie-Tooth disease, axonal, type 2B1 (1.4, 1.26, 1.5, 10.37, 2.17, 14.77) | 605588 | |
Charcot-Marie-Tooth disease, axonal, type 2CC (12.69, 14.67) | 616924 | |
Charcot-Marie-Tooth disease, axonal, type 2D (14.50, 12.21) | 601472 | |
Charcot-Marie-Tooth disease, axonal, type 2DD (14.68) | 618036 | |
Charcot-Marie-Tooth disease, axonal, type 2EE (14.79) | 618400 | |
Charcot-Marie-Tooth disease, axonal, type 2FF (14.69) | 619519 | |
Charcot-Marie-Tooth disease, axonal, type 2N (12.24, 14.58) | 613287 | |
Charcot-Marie-Tooth disease, axonal; related to SACS (15.81, 13.94, 14.93) | ||
Charcot-Marie-Tooth disease, congenital, vertical talus (14.9) | 192950 | |
Charcot-Marie-Tooth disease, dominant intermediate A (14.13, 12.39) | 606483 | |
Charcot-Marie-Tooth disease, dominant intermediate B (3.23, 2.15, 4.16, 14.14, 12.82) | 606482 | |
Charcot-Marie-Tooth disease, dominant intermediate D (14.2, 14.43, 14.54, 14.55, 14.28, 14.16) | 607791 | |
Charcot-Marie-Tooth disease, dominant intermediate G (14.7, 14.51, 14.19) | 617882 | |
Charcot-Marie-Tooth disease, mixed axonal and demyelinating type (14.21, 14.56, 14.82) | 214400 | |
Charcot-Marie-Tooth disease, recessive intermediate, A (14.21, 14.56, 14.82) | 608340 | |
Charcot-Marie-Tooth disease, type 1A (14.1, 14.42, 14.5, 14.6) | 118220 | |
Charcot-Marie-Tooth disease, type 1B (14.2, 14.43, 14.54, 14.55, 14.28, 14.16) | 118200 | |
Charcot-Marie-Tooth disease, type 1D (14.4, 14.27, 14.44) | 607678 | |
Charcot-Marie-Tooth disease, type 1E (14.1, 14.42, 14.5, 14.6) | 118300 | |
Charcot-Marie-Tooth disease, type 1F (14.7, 14.51, 14.19) | 607734 | |
Charcot-Marie-Tooth disease, type 2A1 (14.46) | 118210 | |
Charcot-Marie-Tooth disease, type 2B2 (14.78, 14.90) | 605589 | |
Charcot-Marie-Tooth disease, type 2E (14.7, 14.51, 14.19) | 607684 | |
Charcot-Marie-Tooth disease, type 2I (14.2, 14.43, 14.54, 14.55, 14.28, 14.16) | 607677 | |
Charcot-Marie-Tooth disease, type 2J (14.2, 14.43, 14.54, 14.55, 14.28, 14.16) | 607736 | |
Charcot-Marie-Tooth disease, type 2K (14.21, 14.56, 14.82) | 607831 | |
Charcot-Marie-Tooth disease, type 4A (14.21, 14.56, 14.82) | 214400 | |
Charcot-Marie-Tooth disease, type 4B1 (14.22) | 601382 | |
charcot-marie-tooth disease, type 4b2 (14.23) | 604563 | |
Charcot-Marie-Tooth disease, type 4D (14.26) | 601455 | |
Charcot-Marie-Tooth disease, type 4F (14.29, 14.45) | 145900 | |
charcot-marie-tooth disease, type 4j (14.32, 12.54) | 611228 | |
Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) (14.39, 16.64, 13.100) | 310490 | |
charcot-marie-tooth disease, x-linked recessive, 2 (14.37) | 302801 | ? - (Xp22.2) |
charcot-marie-tooth disease, x-linked recessive, 3 (14.38) | 302802 | |
charcot-marie-tooth disease, x-linked recessive, 5 (14.40) | 311070 | |
Charcot-Marie-Tooth neuropathy (14.12) | ||
Charcot-Marie-Tooth neuropathy Type 2B (14.48) | 600882 | |
Charcot-Marie-Tooth neuropathy Type 2F (14.52, 12.18) | 606595 | |
Charcot-Marie-Tooth neuropathy Type 2H (14.53) | 607731 | ? - (8q21.3) |
Charcot-Marie-Tooth neuropathy Type 2L (14.57, 12.17, 4.24, 4.26) | 608673 | |
Charcot-Marie-Tooth neuropathy Type 2P (14.60) | 614436 | |
Charcot-Marie-Tooth neuropathy Type 2Q (14.61) | 615025 | |
Charcot-Marie-Tooth neuropathy Type 2R (14.86) | 615490 | |
Charcot-Marie-Tooth neuropathy Type 2T (14.88, 13.39) | 617017 | |
Charcot-Marie-Tooth neuropathy Type 2V (14.63) | 616491 | |
Charcot-Marie-Tooth neuropathy Type 2W (14.64) | 616625 | |
Charcot-Marie-Tooth neuropathy Type 2X (15.26, 12.48, 14.89) | 616668 | |
Charcot-Marie-Tooth neuropathy Type 2Y (5.29, 4.19, 12.57, 1.62, 14.65) | 616687 | |
Charcot-Marie-Tooth neuropathy Type 2Z (14.66) | 616688 | |
Charcot-Marie-Tooth neuropathy Type 4B3 (14.24) | ||
Charcot-Marie-Tooth neuropathy Type 4E (14.4, 14.27, 14.44) | 605253 | |
Charcot-Marie-Tooth neuropathy Type 4F (14.25) | 601596 | |
Charcot-Marie-Tooth neuropathy Type 4G (14.30) | 605285 | |
Charcot-Marie-Tooth neuropathy Type 4H (14.31) | 609311 | |
Charcot-Marie-Tooth neuropathy Type 4K (14.33) | ||
Charcot-Marie-Tooth neuropathy Type F (14.18) | 615185 | |
Charcot-Marie-Tooth neuropathy with glomerulopathy (14.17) | 614455 | |
Charcot-Marie-Tooth neuropathy X-linked 6 (14.41) | ||
charcot-marie-tooth neuropathy, dominant intermediate A ( | 606483 | ? - (10q24.1-q25.1) |
Charcot-Marie-Tooth neuropathy, dominant intermediate C (14.15) | 608323 | |
Charcot-Marie-Tooth neuropathy, with fibulin defect (14.11) | ||
Charcot-Marie-Tooth neuropathy, X-linked (14.36, 14.44) | 302800 | |
Charlevoix disease (14.120) | 218000 | |
CMT recessive intermediate D (14.85) | 616039 | |
CMT2 related to KIF5A (15.6, 14.72, 12.68) | ||
Coenzyme Q10 deficiency (13.102) | 619028 | |
Coenzyme Q10 deficiency 1 (16.72) | 607426 | |
Coenzyme Q10 deficiency 5 (16.74) | 614654 | |
Coenzyme Q10 deficiency 6 (16.75) | 614650 | |
Coenzyme Q10 deficiency 7 (16.76) | ||
Coenzyme Q10 deficiency 8 (16.77) | 616733 | |
COL12A1-related congenital muscular dystrophy (2.9, 2.10, 2.11) | ||
Combined oxidative phosphorylation deficiency (16.85) | 619012 | |
Combined Oxidative phosphorylation Deficiency 6 (14.39, 16.64, 13.100) | 300816 | |
Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge (12.91, 14.126, 12.10) | ||
Congenital amyotrophy (3.58) | ||
congenital cataracts, facial dysmorphism, and neuropathy (14.125) | 604168 | |
Congenital disorder of glycosylation type 1 (2.36) | 609180 | |
Congenital multi-minicore myopathy (3.59) | ||
Congenital muscle dystrophy with joint hyperlaxity (2.45) | ? - (3p23-21) | |
Congenital muscle dystrophy with mitochondrial structural abnormalities (2.46) | 602541 | |
Congenital muscular dystrophy (2.47) | 604801 | ? - (1q42) |
Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se (2.37) | ||
Congenital muscular dystrophy due to LMNA defect (L-CMD) (1.4, 1.26, 1.5, 10.37, 2.17, 14.77) | ||
Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype (1.47, 2.43) | ||
Congenital muscular dystrophy with hypoglycosylation of dystroglycan (2.35) | 608799 | |
Congenital muscular dystrophy with hypoglycosylation of dystroglycan ( | 300884 | |
Congenital muscular dystrophy with hypoglycosylation of dystroglycan and epilepsy (2.44, 1.15) | ||
Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 (2.41, 1.66) | 615249 | |
Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 (2.39) | 615041 | |
Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 (1.45, 2.38) | 616538 | |
Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li (2.40) | 615181 | |
Congenital muscular dystrophy with integrin defect (2.14) | ||
Congenital muscular dystrophy with merosin deficiency (2.47) | 604801 | ? - (1q42) |
Congenital muscular dystrophy with rigid spine related to ACTA1 (3.15, 3.3, 3.43, 2.48) | ||
Congenital musuclar dystrophy with telethonin defect (1.36, 10.49, 2.16, 10.26) | ||
Congenital myasthenic syndrome (11.25) | 616304 | |
Congenital myasthenic syndrome (1.9, 11.41) | ||
Congenital myasthenic syndrome (11.42) | ||
Congenital myasthenic syndrome related to ALG14 (11.23) | ||
Congenital myasthenic syndrome related to ALG2 (11.22) | ||
Congenital Myasthenic syndrome related to GMPPB (1.48, 2.42, 2.30, 11.37) | ||
Congenital myasthenic syndrome related to MuSK (11.17, 16.26) | 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 (12.26, 11.28) | 617143 | |
Congenital myasthenic syndrome with intellectual disability and ataxia (11.26) | 616330 | |
Congenital myopathy (3.68) | ||
Congenital myopathy Compton-North (3.47) | 612540 | |
Congenital Myopathy related to PAX7 (3.60) | ||
Congenital myopathy related to PTPLA (10.108, 3.49) | ||
Congenital Myopathy related to PYROXD1 (5.9, 1.64, 3.62) | ||
Congenital Myopathy related to SCN4A (7.3, 7.6, 7.4, 7.7, 11.24, 3.61, 16.32) | ||
Congenital Myopathy related to TNPO3 (1.19, 3.63) | ||
Congenital myopathy with fatal cardiomyopathy (5.10, 3.26, 4.2, 1.39, 10.42, 10.8, 3.45, 3.33, 12.89) | ||
Congenital myopathy with ophthalmoplegia related to CACNA1S (7.8, 8.5, 3.50) | ||
congenital skeletal myopathy and fatal cardiomyopathy (10.4, 3.46, 10.74, 10.101) | ||
CPT deficiency, hepatic, type II (9.18) | 600649 | |
CPVT5 (10.119) | 615441 | |
CRASH syndrome (15.72) | 303350 | |
CRASH syndrome (15.72) | 307000 | |
Creatine phosphokinase, elevated serum (1.27, 6.6, 5.24, 6.7, 4.13, 10.132, 10.16) | 123320 | |
Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) (1.27, 6.6, 5.24, 6.7, 4.13, 10.132, 10.16) | 123320 |