Disease phenotype | OMIM | Gene symbol (chromosome) protein |
| Cap myopathy, TPM2-related, included (3.4, 3.27, 16.8, 16.13, 3.5) | ||
| Cardiac conduction defect, progressive (10.89, 7.7, 10.31, 10.111, 10.116) | ||
| cardiac valvular dysplasia, x-linked (10.71) | ||
| Cardimyopathy, dilated, 1A (10.4, 3.32, 10.52) | ||
| Cardiomopathy, hypertrophic, mid-ventricular chamber type (10.7) | ||
| cardiomyopathy, dilated 1C (5.4, 10.29, 4.12) | ||
| Cardiomyopathy, dilated, 1A (1.4, 1.12, 1.5, 10.26, 14.51) | ||
| Cardiomyopathy, dilated, 1CC (10.63, 10.21) | ||
| Cardiomyopathy, dilated, 1D (10.2, 10.30) | ||
| Cardiomyopathy, dilated, 1DD (10.59) | ||
| Cardiomyopathy, dilated, 1E (10.89, 7.7, 10.31, 10.111, 10.116) | ||
| Cardiomyopathy, dilated, 1EE (10.1, 10.62, 10.13) | ||
| Cardiomyopathy, dilated, 1F (10.32) | ? - (6q23) | |
| Cardiomyopathy, dilated, 1F (1.15) | ? - (6q23) | |
| Cardiomyopathy, dilated, 1G (5.13, 4.2, 1.28, 10.33, 10.8, 3.31) | ||
| Cardiomyopathy, dilated, 1H (10.34) | ? - (2q14-q22) | |
| Cardiomyopathy, dilated, 1J (10.36) | ||
| Cardiomyopathy, dilated, 1K (10.37) | ? - (6q12-q16) | |
| Cardiomyopathy, dilated, 1M (10.39, 10.11) | ||
| Cardiomyopathy, dilated, 1O (10.41) | ||
| Cardiomyopathy, dilated, 1P (10.42, 10.20) | ||
| Cardiomyopathy, dilated, 1Q (10.43) | ? - (7q22.3-q31.1) | |
| Cardiomyopathy, dilated, 1R (10.44, 10.10) | ||
| Cardiomyopathy, dilated, 1S (4.4, 10.1, 3.23, 10.45, 3.24, 3.13) | ||
| Cardiomyopathy, dilated, 1T (10.46) | ||
| Cardiomyopathy, dilated, 1W (10.47) | ||
| Cardiomyopathy, dilated, 1W (10.14, 10.48) | ||
| Cardiomyopathy, dilated, 1Y (10.3, 10.49) | ||
| Cardiomyopathy, dilated, 1Z (10.12, 10.50) | ||
| Cardiomyopathy, Dilated, 3B (1.1, 10.55) | ||
| Cardiomyopathy, dilated, X-linked (1.1, 10.55) | ||
| Cardiomyopathy, familial dilated, 1 (10.28) | ? - (9q13) | |
| Cardiomyopathy, familial hypertrophic (10.6, 10.66, 10.61) | ||
| cardiomyopathy, familial hypertrophic (1.13, 6.6, 5.17, 6.7, 4.11, 10.95, 10.16) | ||
| cardiomyopathy, familial hypertrophic (10.15) | ||
| Cardiomyopathy, familial hypertrophic 1 (10.1, 10.62, 10.13) | ||
| Cardiomyopathy, familial hypertrophic 20 (10.63, 10.21) | ||
| cardiomyopathy, familial hypertrophic, 1, included (4.4, 10.1, 3.23, 10.45, 3.24, 3.13) | ||
| Cardiomyopathy, familial hypertrophic, 10 (10.9) | ||
| Cardiomyopathy, familial hypertrophic, 11 (10.44, 10.10) | ||
| Cardiomyopathy, familial hypertrophic, 12 (10.39, 10.11) | ||
| Cardiomyopathy, familial hypertrophic, 15 (10.14, 10.48) | ||
| Cardiomyopathy, familial hypertrophic, 16 - CMH16 (10.18) | ||
| Cardiomyopathy, familial hypertrophic, 17 (10.19) | ||
| Cardiomyopathy, familial hypertrophic, 18 (10.42, 10.20) | ||
| Cardiomyopathy, familial hypertrophic, 2 (10.2, 10.30) | ||
| Cardiomyopathy, familial hypertrophic, 3 (10.3, 10.49) | ||
| Cardiomyopathy, familial hypertrophic, 4 (10.4, 3.32, 10.52) | ||
| Cardiomyopathy, familial hypertrophic, 9 (5.13, 4.2, 1.28, 10.33, 10.8, 3.31) | ||
| Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome (10.5, 9.10) | ||
| Cardiomyopathy, familial restrictive (10.6, 10.66, 10.61) | ||
| Cardiomyopathy, hypertrophic, early-onset fatal (10.17) | ||
| Cardiomyopathy, hypertrophic, mid-left ventricular chamber type (10.9) | ||
| Cardiomyopathy, X-linked dilated (10.54, 10.69) | ||
| Carnitine deficiency, systemic primary (9.16) | ||
| Carnitine-acylcarnitine translocase deficiency (9.17) | ||
| Central core disease (3.18, 8.1, 3.19, 3.20, 3.30, 3.17, 3.12) | ||
| centronuclear myopathy, dominant (3.15, 2.25, 4.15, 14.12) | ||
| centronuclear myopathy, recessive (3.18, 8.1, 3.19, 3.20, 3.30, 3.17, 3.12) | ||
| centronuclear myopathy, recessive (3.16) | ||
| Cerebellar ataxia, congenital, nonprogressive, autosomal dominant (13.27) | ? - (3p26) | |
| Cerebellar ataxia, paroxymal, acetazolamide-responsive (7.9, 13.6, 13.35, 7.10, 13.30) | ||
| Cerebellar ataxia, pure (7.9, 13.6, 13.35, 7.10, 13.30) | ||
| Chanarin-Dorfman syndrome (9.22) | ||
| Charcot-Marie-Tooth disease with deafness and mental retardation (14.29) | ? - (Xq24-q26.1) | |
| Charcot-Marie-Tooth disease, axonal, type 20 (14.49) | ||
| Charcot-Marie-Tooth disease, axonal, type 2B1 (1.4, 1.12, 1.5, 10.26, 14.51) | ||
| Charcot-Marie-Tooth disease, axonal, type 2D (14.39, 12.14) | ||
| Charcot-Marie-Tooth disease, axonal, type 2N (14.48) | ||
| Charcot-Marie-Tooth disease, congenital, vertical talus (14.8) | ||
| Charcot-Marie-Tooth disease, dominant intermediate D (14.2, 14.32, 14.44, 14.45, 14.21, 14.14) | ||
| Charcot-Marie-Tooth disease, mixed axonal and demyelinating type (14.15, 14.46) | ||
| Charcot-Marie-Tooth disease, type 1A (14.1, 14.31, 14.5, 14.6) | ||
| Charcot-Marie-Tooth disease, type 1B (14.2, 14.32, 14.44, 14.45, 14.21, 14.14) | ||
| Charcot-Marie-Tooth disease, type 1D (14.4, 14.20, 14.33) | ||
| Charcot-Marie-Tooth disease, type 1E (14.1, 14.31, 14.5, 14.6) | ||
| Charcot-Marie-Tooth disease, type 1F (14.7, 14.40) | ||
| Charcot-Marie-Tooth disease, type 2A1 (14.35) | ||
| Charcot-Marie-Tooth disease, type 2B2 (14.52) | ||
| Charcot-Marie-Tooth disease, type 2E (14.7, 14.40) | ||
| Charcot-Marie-Tooth disease, type 2I (14.2, 14.32, 14.44, 14.45, 14.21, 14.14) | ||
| Charcot-Marie-Tooth disease, type 2J (14.2, 14.32, 14.44, 14.45, 14.21, 14.14) | ||
| Charcot-Marie-Tooth disease, type 2K (14.15, 14.46) | ||
| Charcot-Marie-Tooth disease, type 4A (14.15, 14.46) | ||
| Charcot-Marie-Tooth disease, type 4B1 (14.16) | ||
| charcot-marie-tooth disease, type 4b2 (14.17) | ||
| Charcot-Marie-Tooth disease, type 4D (14.61, 14.19) | ||
| Charcot-Marie-Tooth disease, type 4F (14.22, 14.34) | ||
| charcot-marie-tooth disease, type 4j (14.25) | ||
| charcot-marie-tooth disease, x-linked recessive, 2 (14.27) | ? - (Xp22.2) | |
| charcot-marie-tooth disease, x-linked recessive, 3 (14.28) | ? - (Xq26) | |
| charcot-marie-tooth disease, x-linked recessive, 5 (14.30) | ||
| Charcot-Marie-Tooth neuropathy Type 2B (14.37) | ||
| Charcot-Marie-Tooth neuropathy Type 2F (14.41, 12.11) | ||
| Charcot-Marie-Tooth neuropathy Type 2G (14.42) | ? - (12q12-q13) | |
| Charcot-Marie-Tooth neuropathy Type 2H (14.43) | ? - (8q21.3) | |
| Charcot-Marie-Tooth neuropathy Type 2L (14.47, 12.10) | ||
| Charcot-Marie-Tooth neuropathy Type 4E (14.4, 14.20, 14.33) | ||
| Charcot-Marie-Tooth neuropathy Type 4F (14.18) | ||
| Charcot-Marie-Tooth neuropathy Type 4G (14.23) | ? - (10q22) | |
| Charcot-Marie-Tooth neuropathy Type 4H (14.24) | ||
| charcot-marie-tooth neuropathy, dominant intermediate A (14.11) | ? - (10q24.1-q25.1) | |
| Charcot-Marie-Tooth neuropathy, dominant intermediate C (14.13) | ||
| Charcot-Marie-Tooth neuropathy, with fibulin defect (14.10) | ||
| Charcot-Marie-Tooth neuropathy, X-linked (14.26, 14.33) | ||
| Charlevoix disease (14.63) | ||
| congenital cataracts, facial dysmorphism, and neuropathy (14.66) | ||
| congenital lethal myopathy (3.33) | ||
| Congenital muscle dystrophy with joint hyperlaxity (2.27) | ? - (3p23-21) | |
| Congenital muscle dystrophy with mitochondrial structural abnormalities (2.28) | ||
| Congenital muscular dystrophy with integrin defect (2.24) | ||
| Congenital muscular dystrophy with merosin deficiency (2.2) | ? - (1q42) | |
| Congenital muscular dystrophy with severe mental retardation (2.4) | ||
| Congenital musuclar dystrophy with telethonin defect (1.25, 10.40, 2.26) | ||
| Congenital myasthenic syndrome with choline acetyltransferase deficiency (11.12) | ||
| Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency (11.13) | ||
| Congenital myasthenic syndrome with MuSK deficiency (11.14) | ||
| Congenital myopathy with fatal cardiomyopathy (5.13, 4.2, 1.28, 10.33, 10.8, 3.31) | ||
| congenital skeletal myopathy and fatal cardiomyopathy (10.4, 3.32, 10.52) | ||
| Cowchock syndrome (14.29) | ? - (Xq24-q26.1) | |
| CPT deficiency, hepatic, type II (9.15) | ||
| CRASH syndrome (15.43) | ||
| CRASH syndrome (15.43) | ||
| Creatine phosphokinase, elevated serum (1.13, 6.6, 5.17, 6.7, 4.11, 10.95, 10.16) |
