Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
| Cardiac and skeletal aggregate myopathy (5.14) | TRIM54 (2p.23.3) Tripartite motif-containing 54       | |
| Cardiac and skeletal aggregate myopathy (5.14) | TRIM63 (1p36.11) Tripartite motif containing 63, E3 ubiquitin protein ligase | |
| Cardiac arrhythmia syndrome, with or without skeletal muscle weakness (10.132) | 615441 | TRDN (6q22.31) Triadin |
| Cardiac conduction defect, progressive (10.138, 10.43, 10.177, 10.187, 10.167) | 113900 | SCN5A (3p22.2) Voltage-gated sodium channel type V alpha |
| cardiac valvular dysplasia, x-linked (10.114) | 314400 | FLNA (Xq28) Filamin A, alpha (actin binding protein 280) |
| Cardimyopathy, dilated, 1A (10.4, 17.37, 10.76, 10.113) | 115200 | MYBPC3 (11p11.2) Cardiac myosin binding protein-C |
| Cardiomopathy, hypertrophic, mid-ventricular chamber type (10.7) | 160790 | MYL3 (3p21.3-p21.2) Myosin light chain 3 |
| cardiomyopathy, dilated 1C (5.5, 10.41, 4.19, 10.26, 10.106) | 601493 | LDB3 (10q22) LIM domain binding 3 |
| Cardiomyopathy, dilated, 1A (1.3, 1.4, 10.39, 2.17, 14.84) | 115200 | LMNA (1q22) Lamin A/C |
| Cardiomyopathy, dilated, 1CC (10.66, 10.21) | 613122 | NEXN (1p32-p31 ) Nexilin(F-actin binding protein) |
| Cardiomyopathy, dilated, 1D (10.2, 10.42, 10.98, 10.109) | 601494 | TNNT2 (1q32) Troponin T2, cardiac |
| Cardiomyopathy, dilated, 1DD (10.67) | 613172 | RBM20 (10q25.3) RNA binding motif protein 20 |
| Cardiomyopathy, dilated, 1E (10.138, 10.43, 10.177, 10.187, 10.167) | 601154 | SCN5A (3p22.2) Voltage-gated sodium channel type V alpha |
| Cardiomyopathy, dilated, 1EE (10.1, 10.68, 10.13, 10.189) | 613252 | MYH6 (14q12) Myosin heavy chain 6 |
| Cardiomyopathy, dilated, 1FF (10.6, 10.96, 10.81, 10.69) | 613286 | TNNI3 (19q13.4) Troponin I, cardiac |
| Cardiomyopathy, dilated, 1G (5.10, 3.23, 4.4, 1.33, 10.44, 10.8, 3.36, 3.27, 12.102, 3.37) | 604145 | TTN (2q31) Titin |
| Cardiomyopathy, dilated, 1GG (10.70) | 613642 | SDHA (5p15) Succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (M) |
| Cardiomyopathy, dilated, 1H (10.45) | 604288 | ? - (2q14-q22) |
| Cardiomyopathy, dilated, 1J (10.47) | 605362 | EYA4 (6q23-24) Eyes absent 4 |
| Cardiomyopathy, dilated, 1K (10.48) | 605582 | ? - (6q12-q16) |
| Cardiomyopathy, dilated, 1M (10.50, 10.11) | 607482 | CSRP3 (11p15.1) Cysteine and glycine-rich protein 3 (cardiac LIM protein) |
| Cardiomyopathy, dilated, 1O (10.52, 10.169, 5.47) | 608569 | ABCC9 (16p13.1) ATP-binding cassette, sub-family C (member 9) |
| Cardiomyopathy, dilated, 1P (10.53, 10.19) | 609909 | PLN (6q22.1) Phospholamban |
| Cardiomyopathy, dilated, 1Q (10.54) | 609915 | ? - (7q22.3-q31.1) |
| Cardiomyopathy, dilated, 1R (10.55, 10.10, 10.107) | 102540 | ACTC1 (15q11-q14) Actin, alpha, cardiac muscle precursor |
| Cardiomyopathy, dilated, 1S (4.6, 3.30, 10.56, 3.32, 10.108, 3.31) | 613426 | MYH7 (14q12) Myosin, heavy polypeptide 7, cardiac muscle, beta |
| Cardiomyopathy, dilated, 1T (10.57) | 188380 | TMPO (12q22) Lamina-associated polypeptide 2 |
| Cardiomyopathy, dilated, 1U (10.58) | 613694 | PSEN1 (14q24.2) Presenilin 1 |
| Cardiomyopathy, dilated, 1W (10.59) | 613697 | PSEN2 (1q42.13) Presenilin 2 |
| Cardiomyopathy, dilated, 1W (10.14, 10.60) | 611407 | VCL (10q22.1-q23) Vinculin |
| Cardiomyopathy, dilated, 1X (2.36, 2.22, 10.61) | 611615 | FKTN (9q31-q33) Fukutin |
| Cardiomyopathy, dilated, 1Y (10.3, 10.62, 10.112) | 611878 | TPM1 (15q22) Tropomyosin 1 (alpha) |
| Cardiomyopathy, dilated, 1Z (10.12, 10.63) | 611879 | TNNC1 (3p21.3-p14.3) Slow troponin C |
| Cardiomyopathy, dilated, 2B (10.82) | 614672 | GATAD1 (7q21-q22) GATA zinc finger domain containing 1 |
| Cardiomyopathy, Dilated, 3B (1.1, 10.91) | 302045 | DMD (Xp21.2) Dystrophin |
| Cardiomyopathy, dilated, X-linked (1.1, 10.91) | 302045 | DMD (Xp21.2) Dystrophin |
| Cardiomyopathy, familial dilated, 1 (10.40) | 600884 | ? - (9q13) |
| cardiomyopathy, familial hypertrophic (1.21, 6.6, 5.32, 6.7, 4.12, 10.144, 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, 10.96, 10.81, 10.69) | 191044 | TNNI3 (19q13.4) Troponin I, cardiac |
| Cardiomyopathy, familial hypertrophic 1 (10.1, 10.68, 10.13, 10.189) | 192600 | MYH6 (14q12) Myosin heavy chain 6 |
| Cardiomyopathy, familial hypertrophic 20 (10.66, 10.21) | NEXN (1p32-p31 ) Nexilin(F-actin binding protein) | |
| Cardiomyopathy, familial hypertrophic 27 (10.29) | 618052 | ALPK3 (15q25.3) Alpha kinase 3 |
| cardiomyopathy, familial hypertrophic, 1, included (4.6, 3.30, 10.56, 3.32, 10.108, 3.31) | 192600 | MYH7 (14q12) Myosin, heavy polypeptide 7, cardiac muscle, beta |
| Cardiomyopathy, familial hypertrophic, 10 (10.9) | 608758 | MYL2 (12q23-q24.3) Myosin light chain 2 |
| Cardiomyopathy, familial hypertrophic, 11 (10.55, 10.10, 10.107) | 612098 | ACTC1 (15q11-q14) Actin, alpha, cardiac muscle precursor |
| Cardiomyopathy, familial hypertrophic, 12 (10.50, 10.11) | 612124 | CSRP3 (11p15.1) Cysteine and glycine-rich protein 3 (cardiac LIM protein) |
| Cardiomyopathy, familial hypertrophic, 15 (10.14, 10.60) | 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, 10.85) | 613873 | JPH2 (20q13.12) Junctophilin-2 |
| Cardiomyopathy, familial hypertrophic, 18 (10.53, 10.19) | PLN (6q22.1) Phospholamban | |
| Cardiomyopathy, familial hypertrophic, 2 (10.2, 10.42, 10.98, 10.109) | 115195 | TNNT2 (1q32) Troponin T2, cardiac |
| Cardiomyopathy, familial hypertrophic, 26 (5.6, 4.8, 10.28, 10.100) | 617047 | FLNC (7q32) Filamin C, gamma (actin-binding protein - 280) |
| Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies ( | 620236 | |
| Cardiomyopathy, familial hypertrophic, 3 (10.3, 10.62, 10.112) | 115196 | TPM1 (15q22) Tropomyosin 1 (alpha) |
| Cardiomyopathy, familial hypertrophic, 4 (10.4, 17.37, 10.76, 10.113) | 115197 | MYBPC3 (11p11.2) Cardiac myosin binding protein-C |
| Cardiomyopathy, familial hypertrophic, 9 (5.10, 3.23, 4.4, 1.33, 10.44, 10.8, 3.36, 3.27, 12.102, 3.37) | 188840 | TTN (2q31) Titin |
| Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome (10.5, 9.9) | 600858 | PRKAG2 (7q31) Protein kinase, AMP-activated, gamma 2 non-catalytic subunit |
| Cardiomyopathy, familial restrictive (10.6, 10.96, 10.81, 10.69) | 115210 | TNNI3 (19q13.4) Troponin I, cardiac |
| Cardiomyopathy, hypertrophic, 10 (10.9) | 160781 | MYL2 (12q23-q24.3) Myosin light chain 2 |
| Cardiomyopathy, X-linked dilated (10.90, 10.103) | 300069 | TAZ (Xq28) Tafazzin |
| Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) (3.41) | 254940 | MYMK (9q34.2) Myomaker |
| Carey-Fineman-Ziter syndrome 2 ( | 619941 | |
| Carey-Fineman-Ziter syndrome 2 (3.42) | 619941 | MYMX (6p21.1) |
| Carnitine deficiency, systemic primary (9.23) | 212140 | SLC22A5 (5q31) Solute carrier family 22 member 5 |
| Carnitine-acylcarnitine translocase deficiency (9.24) | 212138 | SLC25A20 (3p21.31) Carnitine-acylcarnitine translocase (M) |
| Central core disease (8.1, 3.25, 3.26, 3.22, 5.39, 3.24, 2.51, 17.32, 3.58) | 117000 | RYR1 (19q13.1) Ryanodine receptor 1 (skeletal) |
| Centronuclear myopathy 2 (3.18) | 255200 | BIN1 (2q14) Amphiphysin |
| Centronuclear myopathy 4 (3.19) | 614807 | CCDC78 (16p13.3) Coiled-coil domain-containing protein 78 |
| Centronuclear myopathy 5 (3.20) | 615959 | SPEG (2q35) SPEG complex locus |
| 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, 3.23, 4.4, 1.33, 10.44, 10.8, 3.36, 3.27, 12.102, 3.37) | TTN (2q31) Titin | |
| centronuclear myopathy, recessive (8.1, 3.25, 3.26, 3.22, 5.39, 3.24, 2.51, 17.32, 3.58) | 255200 | RYR1 (19q13.1) Ryanodine receptor 1 (skeletal) |
| Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) (13.105) | 212840 | RNF216 (7p22.1) Ring finger protein 216 |
| Cerebellar ataxia with neuropathy, hearing loss and intellectual disability (14.41, 17.50, 13.108) | 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 (14.131) | 614575 | RFC1 (4p14) Replication Factor C Subunit 1 |
| Cerebellar ataxia, paroxymal, acetazolamide-responsive (7.9, 13.6, 13.54, 7.10, 13.48) | 108500 | CACNA1A (19p13.13) Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
| Cerebellar ataxia, pure (7.9, 13.6, 13.54, 7.10, 13.48) | 601011 | CACNA1A (19p13.13) Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
| Chanarin-Dorfman syndrome (9.30) | 275630 | ABHD5 (3p25.3-p24.3) Abhydrolase domain containing 5 |
| Charcot-Marie Tooth disease (14.36) | AHNAK2 (14q32) Ahnak nucleoprotein 2 | |
| Charcot-Marie Tooth disease related to CNTNAP1 (12.97, 14.37) | 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 (14.21) | CFAP276 (1p21.2-p13.3) Cilia- and flagella-associated protein 276 | |
| Charcot-Marie Tooth disease, intermediate (14.22) | SARS1 (1p13.3 ) Seryl-tRNA synthetase 1 | |
| Charcot-Marie-Tooth (12.48) | COX18 (4q13.3) Cytochrome c Oxidase Assembly Factor COX18 (M) | |
| Charcot-Marie-Tooth (14.106) | DARS2 (1q25.1) Asparaginyl-tRNA Synthetase 2 | |
| Charcot-Marie-Tooth (5.22, 12.82) | LRP12 (8q22.3) Low density lipoprotein receptor-related protein 12 | |
| Charcot-Marie-Tooth disease with deafness and mental retardation (14.41, 17.50, 13.108) | 310490 | AIFM1 (Xq24-q26.1) Apoptosis-inducing factor, Mitochondria-associated 1 (M) |
| Charcot-Marie-Tooth disease, axonal (14.98) | SGPL1 (10q22.1) Sphingosine-1-Phosphate Lyase 1 | |
| Charcot-Marie-Tooth disease, axonal (12.113, 14.102) | MCM3AP (21q22.3) Minichromosome maintenance 3-associated protein | |
| Charcot-Marie-Tooth disease, axonal (15.39, 14.103) | B4GALNT1 (12q13.3) Beta-1,4-N-acetyl-galactosaminyl transferase 1 | |
| Charcot-Marie-Tooth disease, axonal (14.104) | MYO9B (19p13.11) Myosin IXB | |
| Charcot-Marie-Tooth disease, axonal (12.48) | COX18 (4q13.3) Cytochrome c Oxidase Assembly Factor COX18 (M) | |
| Charcot-Marie-Tooth disease, axonal (14.81) | DHX9 (1q25.3) DExH-box helicase 9 | |
| Charcot-Marie-Tooth disease, axonal (12.54, 12.55, 12.49, 14.82) | SOD1 (21q22.1) Superoxide dismutase 1, soluble | |
| Charcot-Marie-Tooth disease, axonal, related to BAG3 (5.7, 10.71, 14.76) | BAG3 (10q25.2-q26.2) BCL2-associated athanogene 3 | |
| Charcot-Marie-Tooth disease, axonal, related to CRYAB (5.2, 10.72, 14.79) | CRYAB (11q22.3-q23.1) Crystallin, alpha B | |
| Charcot-Marie-Tooth disease, axonal, related to DHX9 ( | ||
| Charcot-Marie-Tooth disease, axonal, related to JAG1 (14.77) | JAG1 (20p12.2) Jagged 1 | |
| Charcot-Marie-Tooth disease, axonal, related to NARS1 (14.142) | NARS1 (18q21.31) Asparaginyl-tRNA Synthetase 1 | |
| Charcot-Marie-Tooth disease, axonal, related to NOTCH2NLC (14.140, 5.24, 14.78) | NOTCH2NLC (1q21.2) Notch2 N-terminal-like protein | |
| Charcot-Marie-Tooth disease, axonal, related to SCO2 (10.37, 14.99) | SCO2 (22q13.33) Cytochrome c oxidase assembly protein (M) | |
| Charcot-Marie-Tooth disease, axonal, type 20 (14.61, 12.41) | 614228 | DYNC1H1 (14q32.31) Dynein, cytoplasmic 1, heavy chain 1 |
| Charcot-Marie-Tooth disease, axonal, type 2A2B (14.49, 14.83, 14.73) | 617087 | MFN2 (1p36.22) Mitofusin 2 (M) |
| Charcot-Marie-Tooth disease, axonal, type 2B1 (1.3, 1.4, 10.39, 2.17, 14.84) | 605588 | LMNA (1q22) Lamin A/C |
| Charcot-Marie-Tooth disease, axonal, type 2CC (12.83, 14.69) | 616924 | NEFH (22q12.2) Neurofilament, heavy polypeptide |
| Charcot-Marie-Tooth disease, axonal, type 2D (14.52, 12.27) | 601472 | GARS1 (7p15) Glycyl-tRNA synthetase |
| Charcot-Marie-Tooth disease, axonal, type 2DD (14.70) | 618036 | ATP1A1 (1p13.1) ATPase, Na+/K+ transporting, alpha-1 polypeptide |
| Charcot-Marie-Tooth disease, axonal, type 2EE (14.86) | 618400 | MPV17 (2p23.3) MpV17 mitochondrial inner membrane protein (M) |
| Charcot-Marie-Tooth disease, axonal, type 2FF (14.71) | 619519 | CADM3 (1q23.2) Cell adhesion molecule 3 |
| Charcot-Marie-Tooth disease, axonal, type 2N (12.37, 14.60) | 613287 | AARS (16q22.1) Alanyl-tRNA synthetase |
| Charcot-Marie-Tooth disease, axonal; related to SACS (15.99, 13.102, 14.100) | SACS (13q12) Sacsin | |
| Charcot-Marie-Tooth disease, congenital, vertical talus (14.12) | 192950 | HOXD10 (2q31.1) Homeobox D10 |
| Charcot-Marie-Tooth disease, dominant intermediate A (14.14, 12.47) | 606483 | GBF1 (10q24.32) Golgi-specific brefeldin-A resistance factor 1 |
| Charcot-Marie-Tooth disease, dominant intermediate B (3.17, 2.15, 4.20, 14.15, 12.95) | 606482 | DNM2 (19p13.2) Dynamin 2 |
| Charcot-Marie-Tooth disease, dominant intermediate D (14.2, 14.45, 14.56, 14.57, 14.30, 14.17) | 607791 | MPZ (1q22) Myelin protein zero |
| Charcot-Marie-Tooth disease, dominant intermediate G (14.7, 14.53, 14.20) | 617882 | NEFL (8p21) Neurofilament, light polypeptide 68kDa |
| Charcot-Marie-Tooth disease, mixed axonal and demyelinating type (14.23, 14.58, 14.89) | 214400 | GDAP1 (8q13-q21) Ganglioside-induced differentiation-associated protein 1 |
| Charcot-Marie-Tooth disease, recessive intermediate, A (14.23, 14.58, 14.89) | 608340 | GDAP1 (8q13-q21) Ganglioside-induced differentiation-associated protein 1 |
| Charcot-Marie-Tooth disease, type 1, related to ATP1A1 (14.70) | ATP1A1 (1p13.1) ATPase, Na+/K+ transporting, alpha-1 polypeptide | |
| Charcot-Marie-Tooth disease, type 1A (14.1, 14.44, 14.5, 14.6) | 118220 | PMP22 (17p12-p11.2) Peripheral myelin protein 22 |
| Charcot-Marie-Tooth disease, type 1B (14.2, 14.45, 14.56, 14.57, 14.30, 14.17) | 118200 | MPZ (1q22) Myelin protein zero |
| Charcot-Marie-Tooth disease, type 1D (14.4, 14.29, 14.46) | 607678 | EGR2 (10q21.1) Early growth response 2 protein |
| Charcot-Marie-Tooth disease, type 1E (14.1, 14.44, 14.5, 14.6) | 118300 | PMP22 (17p12-p11.2) Peripheral myelin protein 22 |
| Charcot-Marie-Tooth disease, type 1F (14.7, 14.53, 14.20) | 607734 | NEFL (8p21) Neurofilament, light polypeptide 68kDa |
| Charcot-Marie-Tooth disease, type 2A1 (14.48) | 118210 | KIF1B (1p36.2) Kinesin family member 1B (M) |
| Charcot-Marie-Tooth disease, type 2B2 (14.85, 14.97) | 605589 | PNKP (19q13.33) polynucleotide kinase 3’-phosphatase |
| Charcot-Marie-Tooth disease, type 2E (14.7, 14.53, 14.20) | 607684 | NEFL (8p21) Neurofilament, light polypeptide 68kDa |
| Charcot-Marie-Tooth disease, type 2I (14.2, 14.45, 14.56, 14.57, 14.30, 14.17) | 607677 | MPZ (1q22) Myelin protein zero |
| Charcot-Marie-Tooth disease, type 2J (14.2, 14.45, 14.56, 14.57, 14.30, 14.17) | 607736 | MPZ (1q22) Myelin protein zero |
| Charcot-Marie-Tooth disease, type 2K (14.23, 14.58, 14.89) | 607831 | GDAP1 (8q13-q21) Ganglioside-induced differentiation-associated protein 1 |
| Charcot-Marie-Tooth disease, type 4A (14.23, 14.58, 14.89) | 214400 | GDAP1 (8q13-q21) Ganglioside-induced differentiation-associated protein 1 |
| Charcot-Marie-Tooth disease, type 4B1 (14.24) | 601382 | MTMR2 (11q22) Myotubularin-related protein 2 |
| charcot-marie-tooth disease, type 4b2 (14.25) | 604563 | SBF2 (11p15.4) SET binding factor 2 |
| Charcot-Marie-Tooth disease, type 4D (14.28) | 601455 | NDRG1 (8q24.3) N-myc downstream regulated gene 1 |
| Charcot-Marie-Tooth disease, type 4F (14.31, 14.47) | 145900 | PRX (19q13) Periaxin |
| charcot-marie-tooth disease, type 4j (14.34, 12.65) | 611228 | FIG4 (6q21) Sac domain-containing inositol phosphatase 3 |
| Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) (14.41, 17.50, 13.108) | 310490 | AIFM1 (Xq24-q26.1) Apoptosis-inducing factor, Mitochondria-associated 1 (M) |
| charcot-marie-tooth disease, x-linked recessive, 2 (14.39) | 302801 | ? - (Xp22.2) |
| charcot-marie-tooth disease, x-linked recessive, 3 (14.40) | 302802 | 78 kb Chro8 insertion (Xq26) 78 kb inter-chromosomal insertion (from chro 8q24.3) |
| charcot-marie-tooth disease, x-linked recessive, 5 (14.42) | 311070 | PRPS1 (Xq21.32-q24) Phosphoribosyl pyrophosphate synthetase 1 |
| Charcot-Marie-Tooth neuropathy (14.11) | ITPR3 (6q21.31) Inositol 1,4,5-triphosphate receptor, type 3 | |
| Charcot-Marie-Tooth neuropathy (14.10) | 619742 | POLR3B (12q23.3) Polymerase III, RNA, Subunit B |
| Charcot-Marie-Tooth neuropathy Type 2B (14.50) | 600882 | RAB7A (3q21) RAB7, member RAS oncogene family |
| Charcot-Marie-Tooth neuropathy Type 2F (14.54, 12.25) | 606595 | HSPB1 (7q11.23) Heat shock 27kDa protein 1 |
| Charcot-Marie-Tooth neuropathy Type 2H (14.55) | 607731 | ? - (8q21.3) |
| Charcot-Marie-Tooth neuropathy Type 2L (14.59, 12.24, 4.27, 4.28) | 608673 | HSPB8 (12q24.23) Heat shock 27kDa protein 8 |
| Charcot-Marie-Tooth neuropathy Type 2P (14.62) | 614436 | LRSAM1 (9q33.3) Leucine rich repeat and sterile alpha motif containing 1 |
| Charcot-Marie-Tooth neuropathy Type 2Q (14.63) | 615025 | DHTKD1 (10p14) Dehydrogenase E1 and transketolase domain containing 1 (M) |
| Charcot-Marie-Tooth neuropathy Type 2R (14.93) | 615490 | TRIM2 (4q31.3) Tripartite motif containing 2 |
| Charcot-Marie-Tooth neuropathy Type 2T (14.95, 13.39) | 617017 | MME (3q25.2) Membrane metallo-endopeptidase |
| Charcot-Marie-Tooth neuropathy Type 2U (14.64, 15.65) | 616280 | MARS1 (12q13.3) Methionyl-tRNA synthetase |
| Charcot-Marie-Tooth neuropathy Type 2V (14.65) | 616491 | NAGLU (17q21.2) N-acetyl-alpha-glucosaminidase |
| Charcot-Marie-Tooth neuropathy Type 2W (14.66) | 616625 | HARS (5q31.3) Histidyl-tRNA synthetase |
| Charcot-Marie-Tooth neuropathy Type 2X (15.30, 12.59, 14.96) | 616668 | SPG11 (15q21.1) SPG11 vesicle trafficking associated, Spatacsin |
| Charcot-Marie-Tooth neuropathy Type 2Y (5.37, 4.22, 12.68, 1.57, 14.67) | 616687 | VCP (9p13-p12) Valosin-containing protein |
| Charcot-Marie-Tooth neuropathy Type 2Z (14.68) | 616688 | MORC2 (2q12.2) MORC family CW-type zinc finger 2 |
| Charcot-Marie-Tooth neuropathy Type 4B3 (14.26) | SBF1 (22q13.33) SET binding factor 1 | |
| Charcot-Marie-Tooth neuropathy Type 4E (14.4, 14.29, 14.46) | 605253 | EGR2 (10q21.1) Early growth response 2 protein |
| Charcot-Marie-Tooth neuropathy Type 4F (14.27) | 601596 | SH3TC2 (5q32) KIAA1985 protein |
| Charcot-Marie-Tooth neuropathy Type 4G (14.32) | 605285 | HK1 (10q22.1) Hexokinase 1 (M) |
| Charcot-Marie-Tooth neuropathy Type 4H (14.33) | 609311 | FGD4 (12p11.21) Actin-filament binding protein Frabin |
| Charcot-Marie-Tooth neuropathy Type 4K (14.35) | SURF1 (9q34.2) Surfeit 1 (M) | |
| Charcot-Marie-Tooth neuropathy Type F (14.19) | 615185 | GNB4 (3q28-q29) Guanine nucleotidebinding protein, beta-4 |
| Charcot-Marie-Tooth neuropathy with glomerulopathy (14.18) | 614455 | INF2 (14q32-33) Inverted formin 2 |
| Charcot-Marie-Tooth neuropathy X-linked 6 (14.43) | 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 (14.16) | 608323 | YARS (1p35.1) Tyrosyl-tRNA synthetase |
| Charcot-Marie-Tooth neuropathy, with fibulin defect (14.9) | FBLN5 (14q32.12) Fibulin 5 (extra-cellular matrix) | |
| Charcot-Marie-Tooth neuropathy, X-linked (14.38, 14.46) | 302800 | GJB1 (Xq13.1) Gap junction protein, beta 1, 32kDa (connexin 32) |
| Charlevoix disease (14.132) | 218000 | SLC12A6 (15q13-q15) Potassium chloride cotransporter KCC3 |
| Childhood-onset myopathy with hyperCKaemia (3.61) | PACSIN3 (11p11.2) Protein kinase C and casein kinase substrate in neuron 3 | |
| CMT recessive intermediate D (14.92) | 616039 | COX6A1 (12q24.31) Cytochrome c oxidase subunit VIa polypeptide 1 (M) |
| CMT2 related to KIF5A (15.6, 14.74, 12.79, 1.23) | KIF5A (12q13.13) Kinesin family member 5A | |
| Coenzyme Q10 deficiency (13.110) | 619028 | COQ5 (12q24.31) Coenzyme Q5 Methyltransferase (M) |
| Coenzyme Q10 deficiency 1 (17.55) | 607426 | COQ2 (4q21.23) Coenzyme Q2 (M) |
| Coenzyme Q10 deficiency 5 (17.57) | 614654 | COQ9 (16q21) Coenzyme Q9 (M) |
| Coenzyme Q10 deficiency 6 (17.58) | 614650 | COQ6 (14q24.3) Coenzyme Q6 (M) |
| Coenzyme Q10 deficiency 7 (17.59, 15.102) | COQ4 (9q34.11) Coenzyme Q4 (M) | |
| Coenzyme Q10 deficiency 8 (17.60, 12.13) | 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 (17.52) | 619012 | NSUN3 (3q11.2) NOP2/SUN RNA Methyltransferase Family Member 3 |
| Combined oxidative phosphorylation deficiency 43 (16.25) | 618851 | TIMM22 (17q13.3) Translocase of inner mitochondrial membrane 22 (M) |
| Combined oxidative phosphorylation deficiency 44 (17.51) | 618855 | FASTKD2 (2q33.3) Fast Kinase Domains 2 |
| Combined oxidative phosphorylation deficiency 50 (17.53) | 619025 | MRPS25 (3p25.1) Mitochondrial ribosomal protein S25 (M) |
| Combined oxidative phosphorylation deficiency 58 (11.47, 17.54) | 620451 | TEFM (17q11.2 ) Transcription elongation factor, mitochondrial (M) |
| Combined Oxidative phosphorylation Deficiency 6 (14.41, 17.50, 13.108) | 300816 | AIFM1 (Xq24-q26.1) Apoptosis-inducing factor, Mitochondria-associated 1 (M) |
| Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge (12.104, 14.138, 12.14) | VRK1 (14q32) Vaccinia related kinase 1 | |
| Congenital amyotrophy (17.36) | CACNA1H (16p13.3) Calcium channel, voltage-dependent, T type, aplpha-1H subunit | |
| congenital cataracts, facial dysmorphism, and neuropathy (14.137) | 604168 | CTDP1 (18q23) CTD phosphatase subunit 1 |
| Congenital disorder of glycosylation type 1 (9.14) | 609180 | MPDU1 (17p13.1) Mannose-P-dolichol utilization defect 1 |
| Congenital muscle dystrophy with mitochondrial structural abnormalities (2.44) | 602541 | CHKB (22q13) Choline kinase beta |
| Congenital muscular dystrophy (2.45) | 604801 | ? - (1q42) |
| Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se (9.16) | DPM2 (9q34.13) Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit | |
| Congenital muscular dystrophy due to LMNA defect (L-CMD) (1.3, 1.4, 10.39, 2.17, 14.84) | LMNA (1q22) Lamin A/C | |
| Congenital muscular dystrophy related to TRAPPC2L (2.52) | TRAPPC2L (16q24.3) Trafficking protein particle complex 2-like | |
| Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype (1.36, 2.42) | TRAPPC11 (4q35.1) Trafficking protein particle complex 11 | |
| Congenital muscular dystrophy with hypoglycosylation of dystroglycan (9.13) | 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 type A,12 (2.30, 1.52) | 615249 | POMK (8p11.21) Protein-O-mannose kinase |
| Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 (2.28) | 615041 | RXYLT1 (12q14.2) Ribitol xylosyltransferase 1 (transmembrane protein 5) |
| Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 (1.51, 2.27) | 616538 | DAG1 (3p21) Dystroglycan1 |
| Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li (2.29) | 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 (2.45) | 604801 | ? - (1q42) |
| Congenital muscular dystrophy with rigid spine related to ACTA1 (3.2, 3.35, 3.1, 2.46) | 604801 | ACTA1 (1q42.1) Alpha actin, skeletal muscle |
| Congenital musuclar dystrophy with telethonin defect (10.51, 2.16, 10.27) | 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 (11.46) | UNC50 (2q11.2) Inner nuclear membrane RNA-binding protein | |
| Congenital myasthenic syndrome (11.47, 17.54) | TEFM (17q11.2 ) Transcription elongation factor, mitochondrial (M) | |
| Congenital Myasthenic syndrome related to GMPPB (1.53, 2.39, 2.32, 11.37) | GMPPB (3p21.31) GDP-mannose pyrophosphorylase B | |
| Congenital myasthenic syndrome related to MuSK (11.17, 17.28) | 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 (11.28, 12.29) | 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 myasthenic syndrome with nephrotic syndrome (11.34) | 614199 | LAMB2 (3p21) Laminin, beta 2 (laminin S) |
| Congenital myopathy 10A, severe variant (3.29, 3.28) | 614399 | MEGF10 (5q23.2) Multiple EGF-like-domains 10 |
| Congenital myopathy 10B, mild variant (3.29, 3.28) | 620249 | MEGF10 (5q23.2) Multiple EGF-like-domains 10 |
| Congenital Myopathy 11 (10.120, 3.38) | 619967 | HACD1 (10p12.33) Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase |
| Congenital myopathy 12 (17.38) | 612540 | CNTN1 (12q11-q12) Contactin-1 |
| Congenital myopathy 13 (3.46, 3.47) | 255995 | STAC3 (12q13.3) SH3 and cysteine rich domain 3 |
| Congenital myopathy 14 (3.48) | 618414 | MYL1 (2q34) Myosin, light polypeptide 1, alkali, skeletal fast |
| Congenital myopathy 15 (3.49) | 620161 | TNNC2 (20q13.12) Troponin C Fast |
| Congenital myopathy 16 (17.10, 12.94, 3.50) | 618524 | MYBPC1 (12q23.2) Myosin-binding proteinC, slow type |
| Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia (8.1, 3.25, 3.26, 3.22, 5.39, 3.24, 2.51, 17.32, 3.58) | 117000 | RYR1 (19q13.1) Ryanodine receptor 1 (skeletal) |
| Congenital myopathy 1B, recessive (8.1, 3.25, 3.26, 3.22, 5.39, 3.24, 2.51, 17.32, 3.58) | 255320 | RYR1 (19q13.1) Ryanodine receptor 1 (skeletal) |
| Congenital Myopathy 22A, classic (7.3, 7.6, 7.4, 7.7, 11.24, 3.55, 17.34, 3.56) | 620351 | SCN4A (17q23-q25.3) Sodium channel, voltage-gated, type IV, alpha |
| Congenital Myopathy 22B, severe fetal (7.3, 7.6, 7.4, 7.7, 11.24, 3.55, 17.34, 3.56) | 620369 | SCN4A (17q23-q25.3) Sodium channel, voltage-gated, type IV, alpha |
| Congenital myopathy 25 (3.59) | 620964 | JPH1 (8q21.11) Junctophilin 1 |
| Congenital myopathy 26 (12.76, 3.60) | 621225 | TUBA4A (2q35) Tubulin, Alpha-4A |
| Congenital myopathy 27 (3.61) | 621343 | PACSIN3 (11p11.2) Protein kinase C and casein kinase substrate in neuron 3 |
| Congenital myopathy 2A, typical (3.2, 3.35, 3.1, 2.46) | 161800 | ACTA1 (1q42.1) Alpha actin, skeletal muscle |
| Congenital myopathy 2B, severe infantile (3.2, 3.35, 3.1, 2.46) | 161800 | ACTA1 (1q42.1) Alpha actin, skeletal muscle |
| Congenital myopathy 2C, severe infantile, dominant (3.2, 3.35, 3.1, 2.46) | 620278 | ACTA1 (1q42.1) Alpha actin, skeletal muscle |
| Congenital myopathy 3 with rigid spine (2.13, 5.13) | 602771 | SELENON (1p36.13) Selenoprotein N1 |
| Congenital myopathy 5 with cardiomyopathy (formerly Salih myopathy) (5.10, 3.23, 4.4, 1.33, 10.44, 10.8, 3.36, 3.27, 12.102, 3.37) | 611705 | TTN (2q31) Titin |
| Congenital myopathy 6 with ophtalmoplegia (3.33) | 605637 | MYH2 (17p13.1) Myosin, heavy polypeptide 2, skeletal muscle |
| Congenital myopathy 7A, myosin storage, autosomal dominant (4.6, 3.30, 10.56, 3.32, 10.108, 3.31) | 608358 | MYH7 (14q12) Myosin, heavy polypeptide 7, cardiac muscle, beta |
| Congenital myopathy 7B, myosin storage, autosomal recessive (4.6, 3.30, 10.56, 3.32, 10.108, 3.31) | 255160 | MYH7 (14q12) Myosin, heavy polypeptide 7, cardiac muscle, beta |
| Congenital myopathy 8 (10.64, 10.25, 3.43, 4.10) | 618654 | ACTN2 (1q42-q43) Actinin alpha2 |
| Congenital myopathy 9A (3.44, 3.45) | 618822 | FXR1 (3q26.33) FMR1 autosomal homolog |
| Congenital myopathy 9B, proximal with minicore (3.44, 3.45) | 618823 | FXR1 (3q26.33) FMR1 autosomal homolog |
| Congenital myopathy associated with ptosis (3.63) | FOXK2 (17q25.3) Forkhead box K2 | |
| Congenital Myopathy related to PYROXD1 (5.9, 1.59, 3.57) | PYROXD1 (12p12.1) Pyridine nucleotidedisulphide oxidoreductase domain 1 | |
| Congenital myopathy with fatal cardiomyopathy (5.10, 3.23, 4.4, 1.33, 10.44, 10.8, 3.36, 3.27, 12.102, 3.37) | TTN (2q31) Titin | |
| Congenital myopathy with ophthalmoplegia related to CACNA1S (7.8, 8.5, 3.39, 1.24, 3.52) | CACNA1S (1q32) Calcium channel, voltage-dependent, L type, alpha 1S subunit | |
| Congenital myopathy with severe hypotonia and axial weakness (17.41) | RFC4 (3q27.3) Replication factor C, subunit 4 | |
| congenital skeletal myopathy and fatal cardiomyopathy (10.4, 17.37, 10.76, 10.113) | MYBPC3 (11p11.2) Cardiac myosin binding protein-C | |
| CPT deficiency, hepatic, type II (9.22) | 600649 | CPT2 (1p32) Carnitine palmitoyltransferase II (M) |
| CRASH syndrome (15.90) | 303350 | L1CAM (Xq28) L1 cell adhesion molecule |
| CRASH syndrome (15.90) | 307000 | L1CAM (Xq28) L1 cell adhesion molecule |
| Creatine phosphokinase, elevated serum (1.21, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16) | 123320 | CAV3 (3p25.3) Caveolin 3 |
| Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) (1.21, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16) | 123320 | CAV3 (3p25.3) Caveolin 3 |