Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
| Cap myopathy, TPM2-related, included (3.4, 3.42, 16.9, 16.15) | 609285 | TPM2 (9p13) Tropomyosin 2 (beta)       |
| Cardiac and skeletal aggregate myopathy (5.13) | TRIM54 (2p.23.3) Tripartite motif-containing 54 | |
| Cardiac and skeletal aggregate myopathy (5.13) | TRIM63 (1p36.11) Tripartite motif containing 63, E3 ubiquitin protein ligase | |
| Cardiac conduction defect, progressive (10.125, 10.41, 10.164, 10.175, 10.154) | 113900 | SCN5A (3p22.2) Voltage-gated sodium channel type V alpha |
| cardiac valvular dysplasia, x-linked (10.102) | 314400 | FLNA (Xq28) Filamin A, alpha (actin binding protein 280) |
| Cardimyopathy, dilated, 1A (10.4, 3.46, 10.74, 10.101) | 115200 | MYBPC3 (11p11.2) Cardiac myosin binding protein-C |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (10.35, 14.92) | 604377 | SCO2 (22q13.33) Cytochrome c oxidase assembly protein (M) |
| Cardiomopathy, hypertrophic, mid-ventricular chamber type (10.7) | 160790 | MYL3 (3p21.3-p21.2) Myosin light chain 3 |
| cardiomyopathy, dilated 1C (5.5, 10.39, 4.14, 10.25, 10.94) | 601493 | LDB3 (10q22) LIM domain binding 3 |
| Cardiomyopathy, dilated, 1A (1.4, 1.26, 1.5, 10.37, 2.17, 14.77) | 115200 | LMNA (1q22) Lamin A/C |
| Cardiomyopathy, dilated, 1CC (10.64, 10.21) | 613122 | NEXN (1p32-p31 ) Nexilin(F-actin binding protein) |
| Cardiomyopathy, dilated, 1D (10.2, 10.40, 10.87, 10.97) | 601494 | TNNT2 (1q32) Troponin T2, cardiac |
| Cardiomyopathy, dilated, 1DD (10.65) | 613172 | RBM20 (10q25.3) RNA binding motif protein 20 |
| Cardiomyopathy, dilated, 1E (10.125, 10.41, 10.164, 10.175, 10.154) | 601154 | SCN5A (3p22.2) Voltage-gated sodium channel type V alpha |
| Cardiomyopathy, dilated, 1EE (10.1, 10.66, 10.13, 10.176) | 613252 | MYH6 (14q12) Myosin heavy chain 6 |
| Cardiomyopathy, dilated, 1FF (10.6, 10.85, 10.78, 10.67) | 613286 | TNNI3 (19q13.4) Troponin I, cardiac |
| Cardiomyopathy, dilated, 1G (5.10, 3.26, 4.2, 1.39, 10.42, 10.8, 3.45, 3.33, 12.89) | 604145 | TTN (2q31) Titin |
| Cardiomyopathy, dilated, 1GG (10.68) | 613642 | SDHA (5p15) Succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (M) |
| Cardiomyopathy, dilated, 1H (10.43) | 604288 | ? - (2q14-q22) |
| Cardiomyopathy, dilated, 1J (10.45) | 605362 | EYA4 (6q23-24) Eyes absent 4 |
| Cardiomyopathy, dilated, 1K (10.46) | 605582 | ? - (6q12-q16) |
| Cardiomyopathy, dilated, 1M (10.48, 10.11) | 607482 | CSRP3 (11p15.1) Cysteine and glycine-rich protein 3 (cardiac LIM protein) |
| Cardiomyopathy, dilated, 1O (10.50, 10.157) | 608569 | ABCC9 (16p13.1) ATP-binding cassette, sub-family C (member 9) |
| Cardiomyopathy, dilated, 1P (10.51, 10.19) | 609909 | PLN (6q22.1) Phospholamban |
| Cardiomyopathy, dilated, 1Q (10.52) | 609915 | ? - (7q22.3-q31.1) |
| Cardiomyopathy, dilated, 1R (10.53, 10.10, 10.95) | 102540 | ACTC1 (15q11-q14) Actin, alpha, cardiac muscle precursor |
| Cardiomyopathy, dilated, 1S (4.4, 3.36, 10.54, 3.38, 3.19, 10.96, 3.64, 3.37) | 613426 | MYH7 (14q12) Myosin, heavy polypeptide 7, cardiac muscle, beta |
| Cardiomyopathy, dilated, 1T (10.55) | 188380 | TMPO (12q22) Lamina-associated polypeptide 2 |
| Cardiomyopathy, dilated, 1U (10.56) | 613694 | PSEN1 (14q24.2) Presenilin 1 |
| Cardiomyopathy, dilated, 1W (10.57) | 613697 | PSEN2 (1q42.13) Presenilin 2 |
| Cardiomyopathy, dilated, 1W (10.14, 10.58) | 611407 | VCL (10q22.1-q23) Vinculin |
| Cardiomyopathy, dilated, 1X (2.18, 2.19, 10.59, 1.42) | 611615 | FKTN (9q31-q33) Fukutin |
| Cardiomyopathy, dilated, 1Y (10.3, 10.60, 10.100) | 611878 | TPM1 (15q22) Tropomyosin 1 (alpha) |
| Cardiomyopathy, dilated, 1Z (10.12, 10.61) | 611879 | TNNC1 (3p21.3-p14.3) Slow troponin C |
| Cardiomyopathy, dilated, 2B (10.79) | 614672 | GATAD1 (7q21-q22) GATA zinc finger domain containing 1 |
| Cardiomyopathy, Dilated, 3B (1.1, 10.81) | 302045 | DMD (Xp21.2) Dystrophin |
| Cardiomyopathy, dilated, X-linked (1.1, 10.81) | 302045 | DMD (Xp21.2) Dystrophin |
| 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 | CAV3 (3p25.3) Caveolin 3 |
| cardiomyopathy, familial hypertrophic (10.15) | 192600 | MYLK2 (20q13.31) Myosin light chain kinase 2 |
| Cardiomyopathy, familial hypertrophic (10.6, 10.85, 10.78, 10.67) | 191044 | TNNI3 (19q13.4) Troponin I, cardiac |
| Cardiomyopathy, familial hypertrophic 1 (10.1, 10.66, 10.13, 10.176) | 192600 | MYH6 (14q12) Myosin heavy chain 6 |
| Cardiomyopathy, familial hypertrophic 20 (10.64, 10.21) | NEXN (1p32-p31 ) Nexilin(F-actin binding protein) | |
| Cardiomyopathy, familial hypertrophic 27 (10.28) | 618052 | ALPK3 (15q25.3) Alpha kinase 3 |
| cardiomyopathy, familial hypertrophic, 1, included (4.4, 3.36, 10.54, 3.38, 3.19, 10.96, 3.64, 3.37) | 192600 | MYH7 (14q12) Myosin, heavy polypeptide 7, cardiac muscle, beta |
| Cardiomyopathy, familial hypertrophic, 10 (10.9, 3.20) | 608758 | MYL2 (12q23-q24.3) Myosin light chain 2 |
| Cardiomyopathy, familial hypertrophic, 11 (10.53, 10.10, 10.95) | 612098 | ACTC1 (15q11-q14) Actin, alpha, cardiac muscle precursor |
| Cardiomyopathy, familial hypertrophic, 12 (10.48, 10.11) | 612124 | CSRP3 (11p15.1) Cysteine and glycine-rich protein 3 (cardiac LIM protein) |
| Cardiomyopathy, familial hypertrophic, 15 (10.14, 10.58) | 613255 | VCL (10q22.1-q23) Vinculin |
| Cardiomyopathy, familial hypertrophic, 16 - CMH16 (10.17) | 613838 | MYOZ2 (4q26) Myozenin 2, or calsarcin 1, a Z disk protein |
| Cardiomyopathy, familial hypertrophic, 17 (10.18) | 613873 | JPH2 (20q13.12) Junctophilin-2 |
| Cardiomyopathy, familial hypertrophic, 18 (10.51, 10.19) | PLN (6q22.1) Phospholamban | |
| Cardiomyopathy, familial hypertrophic, 2 (10.2, 10.40, 10.87, 10.97) | 115195 | TNNT2 (1q32) Troponin T2, cardiac |
| Cardiomyopathy, familial hypertrophic, 26 (5.6, 4.18, 10.27, 10.89) | 617047 | FLNC (7q32) Filamin C, gamma (actin-binding protein - 280) |
| Cardiomyopathy, familial hypertrophic, 3 (10.3, 10.60, 10.100) | 115196 | TPM1 (15q22) Tropomyosin 1 (alpha) |
| Cardiomyopathy, familial hypertrophic, 4 (10.4, 3.46, 10.74, 10.101) | 115197 | MYBPC3 (11p11.2) Cardiac myosin binding protein-C |
| Cardiomyopathy, familial hypertrophic, 9 (5.10, 3.26, 4.2, 1.39, 10.42, 10.8, 3.45, 3.33, 12.89) | 188840 | TTN (2q31) Titin |
| Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome (10.5, 9.10) | 600858 | PRKAG2 (7q31) Protein kinase, AMP-activated, gamma 2 non-catalytic subunit |
| Cardiomyopathy, familial restrictive (10.6, 10.85, 10.78, 10.67) | 115210 | TNNI3 (19q13.4) Troponin I, cardiac |
| Cardiomyopathy, hypertrophic, 10 (10.9, 3.20) | 160781 | MYL2 (12q23-q24.3) Myosin light chain 2 |
| Cardiomyopathy, X-linked dilated (10.80, 10.91) | 300069 | TAZ (Xq28) Tafazzin |
| Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) (3.53) | 254940 | MYMK (9q34.2) Myomaker |
| Carnitine deficiency, systemic primary (9.19) | 212140 | SLC22A5 (5q31) Solute carrier family 22 member 5 |
| Carnitine-acylcarnitine translocase deficiency (9.20) | 212138 | SLC25A20 (3p21.31) Carnitine-acylcarnitine translocase (M) |
| 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 | RYR1 (19q13.1) Ryanodine receptor 1 (skeletal) |
| Centronuclear myopathy 2 (3.24) | 255200 | BIN1 (2q14) Amphiphysin |
| Centronuclear myopathy 4 (3.28) | 614807 | CCDC78 (16p13.3) Coiled-coil domain-containing protein 78 |
| Centronuclear myopathy 6 with fiber-type disproportion (3.21) | 617760 | MAP3K20 (2q31.1) Mitogen-activated protein kinase kinase 20 |
| Centronuclear myopathy related to TTN (5.10, 3.26, 4.2, 1.39, 10.42, 10.8, 3.45, 3.33, 12.89) | TTN (2q31) Titin | |
| Centronuclear myopathy with dilated cardiomyopathy (3.27) | SPEG (2q35) SPEG complex locus | |
| 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 | RYR1 (19q13.1) Ryanodine receptor 1 (skeletal) |
| Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) (13.97) | 212840 | RNF216 (7p22.1) Ring finger protein 216 |
| Cerebellar ataxia with neuropathy, hearing loss and intellectual disability (14.39, 16.64, 13.100) | AIFM1 (Xq24-q26.1) Apoptosis-inducing factor, Mitochondria-associated 1 (M) | |
| Cerebellar ataxia, congenital, nonprogressive, autosomal dominant (13.26) | 117360 | ? - (3p26) |
| Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (14.119) | 614575 | RFC1 (4p14) Replication Factor C Subunit 1 |
| Cerebellar ataxia, paroxymal, acetazolamide-responsive (7.9, 13.6, 13.50, 7.10, 13.45) | 108500 | CACNA1A (19p13.13) Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
| Cerebellar ataxia, pure (7.9, 13.6, 13.50, 7.10, 13.45) | 601011 | CACNA1A (19p13.13) Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
| Chanarin-Dorfman syndrome (9.26) | 275630 | ABHD5 (3p25.3-p24.3) Abhydrolase domain containing 5 |
| Charcot-Marie Tooth disease (14.34) | AHNAK2 (14q32) Ahnak nucleoprotein 2 | |
| Charcot-Marie Tooth disease related to CNTNAP1 (12.84, 14.35) | CNTNAP1 (17q21.2) Contactin-Associated Protein 1 | |
| Charcot-Marie Tooth disease, demyelinating type 1G (14.8) | 618279 | PMP2 (8q21.13) peripheral myelin protein-2 |
| Charcot-Marie Tooth disease, intermediate (14.20) | C1orf194 (1p21.2-p13.3) Chromosome 1 open reading frame 194 | |
| Charcot-Marie-Tooth 2 (14.62) | MARS (12q13.3) Methionyl-tRNA synthetase | |
| Charcot-Marie-Tooth disease with deafness and mental retardation (14.39, 16.64, 13.100) | 310490 | AIFM1 (Xq24-q26.1) Apoptosis-inducing factor, Mitochondria-associated 1 (M) |
| Charcot-Marie-Tooth disease, axonal (14.91) | SGPL1 (10q22.1) Sphingosine-1-Phosphate Lyase 1 | |
| Charcot-Marie-Tooth disease, axonal (12.100, 14.95) | MCM3AP (21q22.3) Minichromosome maintenance 3-associated protein | |
| Charcot-Marie-Tooth disease, axonal (15.35, 14.96) | B4GALNT1 (12q13.3) Beta-1,4-N-acetyl-galactosaminyl transferase 1 | |
| Charcot-Marie-Tooth disease, axonal, related to BAG3 (5.7, 10.69, 14.74) | BAG3 (10q25.2-q26.2) BCL2-associated athanogene 3 | |
| Charcot-Marie-Tooth disease, axonal, related to JAG1 (14.75) | JAG1 (20p12.2) Jagged 1 | |
| Charcot-Marie-Tooth disease, axonal, related to SCO2 (10.35, 14.92) | SCO2 (22q13.33) Cytochrome c oxidase assembly protein (M) | |
| Charcot-Marie-Tooth disease, axonal, type 20 (14.59, 12.32) | 614228 | DYNC1H1 (14q32.31) Dynein, cytoplasmic 1, heavy chain 1 |
| Charcot-Marie-Tooth disease, axonal, type 2A2B (14.47, 14.76, 14.71) | 617087 | MFN2 (1p36.22) Mitofusin 2 (M) |
| Charcot-Marie-Tooth disease, axonal, type 2B1 (1.4, 1.26, 1.5, 10.37, 2.17, 14.77) | 605588 | LMNA (1q22) Lamin A/C |
| Charcot-Marie-Tooth disease, axonal, type 2CC (12.69, 14.67) | 616924 | NEFH (22q12.2) Neurofilament, heavy polypeptide |
| Charcot-Marie-Tooth disease, axonal, type 2D (14.50, 12.21) | 601472 | GARS (7p15) Glycyl-tRNA synthetase |
| Charcot-Marie-Tooth disease, axonal, type 2DD (14.68) | 618036 | ATP1A1 (1p13.1) ATPase, Na+/K+ transporting, alpha-1 polypeptide |
| Charcot-Marie-Tooth disease, axonal, type 2EE (14.79) | 618400 | MPV17 (2p23.3) MpV17 mitochondrial inner membrane protein (M) |
| Charcot-Marie-Tooth disease, axonal, type 2FF (14.69) | 619519 | CADM3 (1q23.2) Cell adhesion molecule 3 |
| Charcot-Marie-Tooth disease, axonal, type 2N (12.24, 14.58) | 613287 | AARS (16q22.1) Alanyl-tRNA synthetase |
| Charcot-Marie-Tooth disease, axonal; related to SACS (15.81, 13.94, 14.93) | SACS (13q12) Sacsin | |
| Charcot-Marie-Tooth disease, congenital, vertical talus (14.9) | 192950 | HOXD10 (2q31.1) Homeobox D10 |
| Charcot-Marie-Tooth disease, dominant intermediate A (14.13, 12.39) | 606483 | GBF1 (10q24.32) Golgi-specific brefeldin-A resistance factor 1 |
| Charcot-Marie-Tooth disease, dominant intermediate B (3.23, 2.15, 4.16, 14.14, 12.82) | 606482 | DNM2 (19p13.2) Dynamin 2 |
| Charcot-Marie-Tooth disease, dominant intermediate D (14.2, 14.43, 14.54, 14.55, 14.28, 14.16) | 607791 | MPZ (1q22) Myelin protein zero |
| Charcot-Marie-Tooth disease, dominant intermediate G (14.7, 14.51, 14.19) | 617882 | NEFL (8p21) Neurofilament, light polypeptide 68kDa |
| Charcot-Marie-Tooth disease, mixed axonal and demyelinating type (14.21, 14.56, 14.82) | 214400 | GDAP1 (8q13-q21) Ganglioside-induced differentiation-associated protein 1 |
| Charcot-Marie-Tooth disease, recessive intermediate, A (14.21, 14.56, 14.82) | 608340 | GDAP1 (8q13-q21) Ganglioside-induced differentiation-associated protein 1 |
| Charcot-Marie-Tooth disease, type 1A (14.1, 14.42, 14.5, 14.6) | 118220 | PMP22 (17p12-p11.2) Peripheral myelin protein 22 |
| Charcot-Marie-Tooth disease, type 1B (14.2, 14.43, 14.54, 14.55, 14.28, 14.16) | 118200 | MPZ (1q22) Myelin protein zero |
| Charcot-Marie-Tooth disease, type 1D (14.4, 14.27, 14.44) | 607678 | EGR2 (10q21.1) Early growth response 2 protein |
| Charcot-Marie-Tooth disease, type 1E (14.1, 14.42, 14.5, 14.6) | 118300 | PMP22 (17p12-p11.2) Peripheral myelin protein 22 |
| Charcot-Marie-Tooth disease, type 1F (14.7, 14.51, 14.19) | 607734 | NEFL (8p21) Neurofilament, light polypeptide 68kDa |
| Charcot-Marie-Tooth disease, type 2A1 (14.46) | 118210 | KIF1B (1p36.2) Kinesin family member 1B (M) |
| Charcot-Marie-Tooth disease, type 2B2 (14.78, 14.90) | 605589 | PNKP (19q13.33) polynucleotide kinase 3’-phosphatase |
| Charcot-Marie-Tooth disease, type 2E (14.7, 14.51, 14.19) | 607684 | NEFL (8p21) Neurofilament, light polypeptide 68kDa |
| Charcot-Marie-Tooth disease, type 2I (14.2, 14.43, 14.54, 14.55, 14.28, 14.16) | 607677 | MPZ (1q22) Myelin protein zero |
| Charcot-Marie-Tooth disease, type 2J (14.2, 14.43, 14.54, 14.55, 14.28, 14.16) | 607736 | MPZ (1q22) Myelin protein zero |
| Charcot-Marie-Tooth disease, type 2K (14.21, 14.56, 14.82) | 607831 | GDAP1 (8q13-q21) Ganglioside-induced differentiation-associated protein 1 |
| Charcot-Marie-Tooth disease, type 4A (14.21, 14.56, 14.82) | 214400 | GDAP1 (8q13-q21) Ganglioside-induced differentiation-associated protein 1 |
| Charcot-Marie-Tooth disease, type 4B1 (14.22) | 601382 | MTMR2 (11q22) Myotubularin-related protein 2 |
| charcot-marie-tooth disease, type 4b2 (14.23) | 604563 | SBF2 (11p15.4) SET binding factor 2 |
| Charcot-Marie-Tooth disease, type 4D (14.26) | 601455 | NDRG1 (8q24.3) N-myc downstream regulated gene 1 |
| Charcot-Marie-Tooth disease, type 4F (14.29, 14.45) | 145900 | PRX (19q13) Periaxin |
| charcot-marie-tooth disease, type 4j (14.32, 12.54) | 611228 | FIG4 (6q21) Sac domain-containing inositol phosphatase 3 |
| Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) (14.39, 16.64, 13.100) | 310490 | AIFM1 (Xq24-q26.1) Apoptosis-inducing factor, Mitochondria-associated 1 (M) |
| charcot-marie-tooth disease, x-linked recessive, 2 (14.37) | 302801 | ? - (Xp22.2) |
| charcot-marie-tooth disease, x-linked recessive, 3 (14.38) | 302802 | 78 kb Chro8 insertion (Xq26) 78 kb inter-chromosomal insertion (from chro 8q24.3) |
| charcot-marie-tooth disease, x-linked recessive, 5 (14.40) | 311070 | PRPS1 (Xq21.32-q24) Phosphoribosyl pyrophosphate synthetase 1 |
| Charcot-Marie-Tooth neuropathy (14.12) | ITPR3 (6q21.31) Inositol 1,4,5-triphosphate receptor, type 3 | |
| Charcot-Marie-Tooth neuropathy Type 2B (14.48) | 600882 | RAB7A (3q21) RAB7, member RAS oncogene family |
| Charcot-Marie-Tooth neuropathy Type 2F (14.52, 12.18) | 606595 | HSPB1 (7q11.23) Heat shock 27kDa protein 1 |
| 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 | HSPB8 (12q24.23) Heat shock 27kDa protein 8 |
| Charcot-Marie-Tooth neuropathy Type 2P (14.60) | 614436 | LRSAM1 (9q33.3) Leucine rich repeat and sterile alpha motif containing 1 |
| Charcot-Marie-Tooth neuropathy Type 2Q (14.61) | 615025 | DHTKD1 (10p14) Dehydrogenase E1 and transketolase domain containing 1 (M) |
| Charcot-Marie-Tooth neuropathy Type 2R (14.86) | 615490 | TRIM2 (4q31.3) Tripartite motif containing 2 |
| Charcot-Marie-Tooth neuropathy Type 2T (14.88, 13.39) | 617017 | MME (3q25.2) Membrane metallo-endopeptidase |
| Charcot-Marie-Tooth neuropathy Type 2V (14.63) | 616491 | NAGLU (17q21.2) N-acetyl-alpha-glucosaminidase |
| Charcot-Marie-Tooth neuropathy Type 2W (14.64) | 616625 | HARS (5q31.3) Histidyl-tRNA synthetase |
| Charcot-Marie-Tooth neuropathy Type 2X (15.26, 12.48, 14.89) | 616668 | SPG11 (15q21.1) SPG11 vesicle trafficking associated, Spatacsin |
| Charcot-Marie-Tooth neuropathy Type 2Y (5.29, 4.19, 12.57, 1.62, 14.65) | 616687 | VCP (9p13-p12) Valosin-containing protein |
| Charcot-Marie-Tooth neuropathy Type 2Z (14.66) | 616688 | MORC2 (2q12.2) MORC family CW-type zinc finger 2 |
| Charcot-Marie-Tooth neuropathy Type 4B3 (14.24) | SBF1 (22q13.33) SET binding factor 1 | |
| Charcot-Marie-Tooth neuropathy Type 4E (14.4, 14.27, 14.44) | 605253 | EGR2 (10q21.1) Early growth response 2 protein |
| Charcot-Marie-Tooth neuropathy Type 4F (14.25) | 601596 | SH3TC2 (5q32) KIAA1985 protein |
| Charcot-Marie-Tooth neuropathy Type 4G (14.30) | 605285 | HK1 (10q22.1) Hexokinase 1 (M) |
| Charcot-Marie-Tooth neuropathy Type 4H (14.31) | 609311 | FGD4 (12p11.21) Actin-filament binding protein Frabin |
| Charcot-Marie-Tooth neuropathy Type 4K (14.33) | SURF1 (9q34.2) Surfeit 1 (M) | |
| Charcot-Marie-Tooth neuropathy Type F (14.18) | 615185 | GNB4 (3q28-q29) Guanine nucleotidebinding protein, beta-4 |
| Charcot-Marie-Tooth neuropathy with glomerulopathy (14.17) | 614455 | INF2 (14q32-33) Inverted formin 2 |
| Charcot-Marie-Tooth neuropathy X-linked 6 (14.41) | PDK3 (Xp22.11) Pyruvate dehydrogenase kinase, isoenzyme 3 (M) | |
| charcot-marie-tooth neuropathy, dominant intermediate A ( | 606483 | ? - (10q24.1-q25.1) |
| Charcot-Marie-Tooth neuropathy, dominant intermediate C (14.15) | 608323 | YARS (1p35.1) Tyrosyl-tRNA synthetase |
| Charcot-Marie-Tooth neuropathy, with fibulin defect (14.11) | FBLN5 (14q32.12) Fibulin 5 (extra-cellular matrix) | |
| Charcot-Marie-Tooth neuropathy, X-linked (14.36, 14.44) | 302800 | GJB1 (Xq13.1) Gap junction protein, beta 1, 32kDa (connexin 32) |
| Charlevoix disease (14.120) | 218000 | SLC12A6 (15q13-q15) Potassium chloride cotransporter KCC3 |
| CMT recessive intermediate D (14.85) | 616039 | COX6A1 (12q24.31) Cytochrome c oxidase subunit VIa polypeptide 1 (M) |
| CMT2 related to KIF5A (15.6, 14.72, 12.68) | KIF5A (12q13.13) Kinesin family member 5A | |
| Coenzyme Q10 deficiency (13.102) | 619028 | COQ5 (12q24.31) Coenzyme Q5 Methyltransferase (M) |
| Coenzyme Q10 deficiency 1 (16.72) | 607426 | COQ2 (4q21.23) Coenzyme Q2 (M) |
| Coenzyme Q10 deficiency 5 (16.74) | 614654 | COQ9 (16q21) Coenzyme Q9 (M) |
| Coenzyme Q10 deficiency 6 (16.75) | 614650 | COQ6 (14q24.3) Coenzyme Q6 (M) |
| Coenzyme Q10 deficiency 7 (16.76) | COQ4 (9q34.11) Coenzyme Q4 (M) | |
| Coenzyme Q10 deficiency 8 (16.77) | 616733 | COQ7 (16p12.3) Coenzyme Q7 (M) |
| COL12A1-related congenital muscular dystrophy (2.9, 2.10, 2.11) | COL12A1 (6q13-q14) Collagen type XII alpha 1 chain | |
| Combined oxidative phosphorylation deficiency (16.85) | 619012 | NSUN3 (3q11.2) NOP2/SUN RNA Methyltransferase Family Member 3 |
| Combined Oxidative phosphorylation Deficiency 6 (14.39, 16.64, 13.100) | 300816 | AIFM1 (Xq24-q26.1) Apoptosis-inducing factor, Mitochondria-associated 1 (M) |
| Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge (12.91, 14.126, 12.10) | VRK1 (14q32) Vaccinia related kinase 1 | |
| Congenital amyotrophy (3.58) | CACNA1H (16p13.3) Calcium channel, voltage-dependent, T type, aplpha-1H subunit | |
| congenital cataracts, facial dysmorphism, and neuropathy (14.125) | 604168 | CTDP1 (18q23) CTD phosphatase subunit 1 |
| Congenital disorder of glycosylation type 1 (2.36) | 609180 | MPDU1 (17p13.1) Mannose-P-dolichol utilization defect 1 |
| Congenital multi-minicore myopathy (3.59) | FXR1 (3q26.33) FMR1 autosomal homolog | |
| Congenital muscle dystrophy with joint hyperlaxity (2.45) | ? - (3p23-21) | |
| Congenital muscle dystrophy with mitochondrial structural abnormalities (2.46) | 602541 | CHKB (22q13) Choline kinase beta |
| Congenital muscular dystrophy (2.47) | 604801 | ? - (1q42) |
| Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se (2.37) | DPM2 (9q34.13) Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit | |
| Congenital muscular dystrophy due to LMNA defect (L-CMD) (1.4, 1.26, 1.5, 10.37, 2.17, 14.77) | LMNA (1q22) Lamin A/C | |
| Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype (1.47, 2.43) | TRAPPC11 (4q35.1) Trafficking protein particle complex 11 | |
| Congenital muscular dystrophy with hypoglycosylation of dystroglycan (2.35) | 608799 | DPM1 (20q13.13) Dolichyl-phosphate mannosyltransferase 1, catalytic subunit |
| Congenital muscular dystrophy with hypoglycosylation of dystroglycan ( | 300884 | ALG13 (Xq23) UDP-N-acetylglucosami-nyltransferase |
| Congenital muscular dystrophy with hypoglycosylation of dystroglycan and epilepsy (2.44, 1.15) | GOSR2 (17q21.32) Golgi SNAP receptor complex member 2 | |
| Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 (2.41, 1.66) | 615249 | POMK (8p11.21) Protein-O-mannose kinase |
| Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 (2.39) | 615041 | RXYLT1 (12q14.2) Ribitol xylosyltransferase 1 (transmembrane protein 5) |
| Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 (1.45, 2.38) | 616538 | DAG1 (3p21) Dystroglycan1 |
| Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li (2.40) | 615181 | B3GALNT2 (1q42.3) Beta-1,3-N-acetylgalacto-saminyltransferase 2 |
| Congenital muscular dystrophy with integrin defect (2.14) | ITGA7 (12q13) Integrin alpha 7 precursor | |
| 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) | ACTA1 (1q42.1) Alpha actin, skeletal muscle | |
| Congenital musuclar dystrophy with telethonin defect (1.36, 10.49, 2.16, 10.26) | TCAP (17q12) Telethonin | |
| Congenital myasthenic syndrome (11.25) | 616304 | LRP4 (11p11.2) LDL receptor related protein 4 |
| Congenital myasthenic syndrome (1.9, 11.41) | TOR1AIP1 (1q25.2) Torsin A interacting protein 1 | |
| Congenital myasthenic syndrome (11.42) | CHD8 (14q11.2) Chromodomain Helicase DNA-Binding Protein 8 | |
| Congenital myasthenic syndrome related to ALG14 (11.23) | ALG14 (1p21.3) UDP-N-acetylglucosaminyltransferase | |
| Congenital myasthenic syndrome related to ALG2 (11.22) | ALG2 (9q31.1) Alpha-1,3/1,6-mannosyltransferase | |
| Congenital Myasthenic syndrome related to GMPPB (1.48, 2.42, 2.30, 11.37) | GMPPB (3p21.31) GDP-mannose pyrophosphorylase B | |
| Congenital myasthenic syndrome related to MuSK (11.17, 16.26) | 608931 | MUSK (9q31.3-q32) Muscle, skeletal, receptor tyrosine kinase |
| Congenital myasthenic syndrome related to RPH3A (11.40) | RPH3A (12q23.3) Rabphilin 3A | |
| Congenital myasthenic syndrome type 19 (11.27) | 616720 | COL13A1 (10q22.1) Collagen type XIII alpha 1 chain |
| Congenital myasthenic syndrome with choline acetyltransferase deficiency (11.13) | 254210 | CHAT (10q11.2) Choline acetyltransferase isoform |
| Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency (11.12) | 603034 | COLQ (3p25) Acetylcholinesterase collagen-like tail subunit |
| Congenital myasthenic syndrome with episodic apnea (12.26, 11.28) | 617143 | SLC5A7 (2q12.31) Solute carrier family 5 (sodium/choline cotransporter), member 7 |
| Congenital myasthenic syndrome with intellectual disability and ataxia (11.26) | 616330 | SNAP25 (20p12.2) Synaptosome associated protein 25 |
| Congenital myopathy (3.68) | TNNC2 (20q13.12) Troponin C Fast | |
| Congenital myopathy Compton-North (3.47) | 612540 | CNTN1 (12q11-q12) Contactin-1 |
| Congenital Myopathy related to PAX7 (3.60) | PAX7 (1p36.13) Paired Box gene 7 | |
| Congenital myopathy related to PTPLA (10.108, 3.49) | HACD1 (10p12.33) Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase | |
| Congenital Myopathy related to PYROXD1 (5.9, 1.64, 3.62) | PYROXD1 (12p12.1) Pyridine nucleotidedisulphide oxidoreductase domain 1 | |
| Congenital Myopathy related to SCN4A (7.3, 7.6, 7.4, 7.7, 11.24, 3.61, 16.32) | SCN4A (17q23-q25.3) Sodium channel, voltage-gated, type IV, alpha | |
| Congenital Myopathy related to TNPO3 (1.19, 3.63) | TNPO3 (7q32.1-q32.2) Transportin 3 | |
| Congenital myopathy with fatal cardiomyopathy (5.10, 3.26, 4.2, 1.39, 10.42, 10.8, 3.45, 3.33, 12.89) | TTN (2q31) Titin | |
| Congenital myopathy with ophthalmoplegia related to CACNA1S (7.8, 8.5, 3.50) | CACNA1S (1q32) Calcium channel, voltage-dependent, L type, alpha 1S subunit | |
| congenital skeletal myopathy and fatal cardiomyopathy (10.4, 3.46, 10.74, 10.101) | MYBPC3 (11p11.2) Cardiac myosin binding protein-C | |
| CPT deficiency, hepatic, type II (9.18) | 600649 | CPT2 (1p32) Carnitine palmitoyltransferase II (M) |
| CPVT5 (10.119) | 615441 | TRDN (6q22.31) Triadin |
| CRASH syndrome (15.72) | 303350 | L1CAM (Xq28) L1 cell adhesion molecule |
| CRASH syndrome (15.72) | 307000 | L1CAM (Xq28) L1 cell adhesion molecule |
| Creatine phosphokinase, elevated serum (1.27, 6.6, 5.24, 6.7, 4.13, 10.132, 10.16) | 123320 | CAV3 (3p25.3) Caveolin 3 |
| Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) (1.27, 6.6, 5.24, 6.7, 4.13, 10.132, 10.16) | 123320 | CAV3 (3p25.3) Caveolin 3 |