Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Cap myopathy, TPM2-related, included (3.6, 3.36, 17.9, 17.15)
609285
TPM2 (9p13)
Tropomyosin 2 (beta)



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, 3.40, 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, 14.81)
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, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101)
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, 5.48)
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, 3.31, 10.56, 3.33, 10.108, 3.32)
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 (1.46, 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 (1.20, 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, 3.31, 10.56, 3.33, 10.108, 3.32)
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, 3.40, 10.76, 10.113)
115197
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



Cardiomyopathy, familial hypertrophic, 9 (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101)
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) (3.47)
254940
MYMK (9q34.2)
Myomaker



Carey-Fineman-Ziter syndrome 2 (619941
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, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64)
117000
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



Centronuclear myopathy 2 (3.19)
255200
BIN1 (2q14)
Amphiphysin



Centronuclear myopathy 4 (3.20)
614807
CCDC78 (16p13.3)
Coiled-coil domain-containing protein 78



Centronuclear myopathy 5 (3.21)
615959
SPEG (2q35)
SPEG complex locus



Centronuclear myopathy 6 with fiber-type disproportion (3.22)
617760
MAP3K20 (2q31.1)
Mitogen-activated protein kinase kinase 20



Centronuclear myopathy related to TTN (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101)
TTN (2q31)
Titin



centronuclear myopathy, recessive (8.1, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64)
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 (14.40, 17.44, 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 (14.125)
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 (14.35)
AHNAK2 (14q32)
Ahnak nucleoprotein 2



Charcot-Marie Tooth disease related to CNTNAP1 (12.96, 14.36)
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 with deafness and mental retardation (14.40, 17.44, 13.108)
310490
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1 (M)



Charcot-Marie-Tooth disease, axonal (14.95)
SGPL1 (10q22.1)
Sphingosine-1-Phosphate Lyase 1



Charcot-Marie-Tooth disease, axonal (12.112, 14.99)
MCM3AP (21q22.3)
Minichromosome maintenance 3-associated protein



Charcot-Marie-Tooth disease, axonal (15.36, 14.100)
B4GALNT1 (12q13.3)
Beta-1,4-N-acetyl-galactosaminyl transferase 1



Charcot-Marie-Tooth disease, axonal (14.101)
MYO9B (19p13.11)
Myosin IXB



Charcot-Marie-Tooth disease, axonal, related to BAG3 (5.7, 10.71, 14.75)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



Charcot-Marie-Tooth disease, axonal, related to CRYAB (5.2, 10.72, 14.78)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



Charcot-Marie-Tooth disease, axonal, related to DHX9 (
Charcot-Marie-Tooth disease, axonal, related to JAG1 (14.76)
JAG1 (20p12.2)
Jagged 1



Charcot-Marie-Tooth disease, axonal, related to NARS1 (14.136, 14.79)
NARS1 (18q21.31)
Asparaginyl-tRNA Synthetase 1



Charcot-Marie-Tooth disease, axonal, related to NOTCH2NLC (14.134, 5.25, 14.77)
NOTCH2NLC (1q21.2)
Notch2 N-terminal-like protein



Charcot-Marie-Tooth disease, axonal, related to SCO2 (10.37, 14.96)
SCO2 (22q13.33)
Cytochrome c oxidase assembly protein (M)



Charcot-Marie-Tooth disease, axonal, type 20 (14.60, 12.41)
614228
DYNC1H1 (14q32.31)
Dynein, cytoplasmic 1, heavy chain 1



Charcot-Marie-Tooth disease, axonal, type 2A2B (14.48, 14.80, 14.72)
617087
MFN2 (1p36.22)
Mitofusin 2 (M)



Charcot-Marie-Tooth disease, axonal, type 2B1 (1.3, 1.4, 10.39, 2.17, 14.81)
605588
LMNA (1q22)
Lamin A/C



Charcot-Marie-Tooth disease, axonal, type 2CC (12.82, 14.68)
616924
NEFH (22q12.2)
Neurofilament, heavy polypeptide



Charcot-Marie-Tooth disease, axonal, type 2D (14.51, 12.27)
601472
GARS1 (7p15)
Glycyl-tRNA synthetase



Charcot-Marie-Tooth disease, axonal, type 2DD (14.69)
618036
ATP1A1 (1p13.1)
ATPase, Na+/K+ transporting, alpha-1 polypeptide



Charcot-Marie-Tooth disease, axonal, type 2EE (14.83)
618400
MPV17 (2p23.3)
MpV17 mitochondrial inner membrane protein (M)



Charcot-Marie-Tooth disease, axonal, type 2FF (14.70)
619519
CADM3 (1q23.2)
Cell adhesion molecule 3



Charcot-Marie-Tooth disease, axonal, type 2N (12.37, 14.59)
613287
AARS (16q22.1)
Alanyl-tRNA synthetase



Charcot-Marie-Tooth disease, axonal; related to SACS (15.96, 13.102, 14.97)
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 (3.18, 2.15, 4.20, 14.15, 12.94)
606482
DNM2 (19p13.2)
Dynamin 2



Charcot-Marie-Tooth disease, dominant intermediate D (14.2, 14.44, 14.55, 14.56, 14.29, 14.17)
607791
MPZ (1q22)
Myelin protein zero



Charcot-Marie-Tooth disease, dominant intermediate G (14.7, 14.52, 14.20)
617882
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



Charcot-Marie-Tooth disease, intermediate, related to SARS1 (
Charcot-Marie-Tooth disease, mixed axonal and demyelinating type (14.22, 14.57, 14.86)
214400
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



Charcot-Marie-Tooth disease, recessive intermediate, A (14.22, 14.57, 14.86)
608340
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



Charcot-Marie-Tooth disease, type 1, related to ATP1A1 (14.69)
ATP1A1 (1p13.1)
ATPase, Na+/K+ transporting, alpha-1 polypeptide



Charcot-Marie-Tooth disease, type 1A (14.1, 14.43, 14.5, 14.6)
118220
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



Charcot-Marie-Tooth disease, type 1B (14.2, 14.44, 14.55, 14.56, 14.29, 14.17)
118200
MPZ (1q22)
Myelin protein zero



Charcot-Marie-Tooth disease, type 1D (14.4, 14.28, 14.45)
607678
EGR2 (10q21.1)
Early growth response 2 protein



Charcot-Marie-Tooth disease, type 1E (14.1, 14.43, 14.5, 14.6)
118300
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



Charcot-Marie-Tooth disease, type 1F (14.7, 14.52, 14.20)
607734
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



Charcot-Marie-Tooth disease, type 2A1 (14.47)
118210
KIF1B (1p36.2)
Kinesin family member 1B (M)



Charcot-Marie-Tooth disease, type 2B2 (14.82, 14.94)
605589
PNKP (19q13.33)
polynucleotide kinase 3’-phosphatase



Charcot-Marie-Tooth disease, type 2E (14.7, 14.52, 14.20)
607684
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



Charcot-Marie-Tooth disease, type 2I (14.2, 14.44, 14.55, 14.56, 14.29, 14.17)
607677
MPZ (1q22)
Myelin protein zero



Charcot-Marie-Tooth disease, type 2J (14.2, 14.44, 14.55, 14.56, 14.29, 14.17)
607736
MPZ (1q22)
Myelin protein zero



Charcot-Marie-Tooth disease, type 2K (14.22, 14.57, 14.86)
607831
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



Charcot-Marie-Tooth disease, type 4A (14.22, 14.57, 14.86)
214400
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



Charcot-Marie-Tooth disease, type 4B1 (14.23)
601382
MTMR2 (11q22)
Myotubularin-related protein 2



charcot-marie-tooth disease, type 4b2 (14.24)
604563
SBF2 (11p15.4)
SET binding factor 2



Charcot-Marie-Tooth disease, type 4D (14.27)
601455
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



Charcot-Marie-Tooth disease, type 4F (14.30, 14.46)
145900
PRX (19q13)
Periaxin



charcot-marie-tooth disease, type 4j (14.33, 12.64)
611228
FIG4 (6q21)
Sac domain-containing inositol phosphatase 3



Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) (14.40, 17.44, 13.108)
310490
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1 (M)



Charcot-Marie-Tooth disease, X-linked recessive related to DRP2 (
charcot-marie-tooth disease, x-linked recessive, 2 (14.38)
302801
? - (Xp22.2)
charcot-marie-tooth disease, x-linked recessive, 3 (14.39)
302802
78 kb Chro8 insertion (Xq26)
78 kb inter-chromosomal insertion (from chro 8q24.3)



charcot-marie-tooth disease, x-linked recessive, 5 (14.41)
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 (14.49)
600882
RAB7A (3q21)
RAB7, member RAS oncogene family



Charcot-Marie-Tooth neuropathy Type 2F (14.53, 12.25)
606595
HSPB1 (7q11.23)
Heat shock 27kDa protein 1



Charcot-Marie-Tooth neuropathy Type 2H (14.54)
607731
? - (8q21.3)
Charcot-Marie-Tooth neuropathy Type 2L (14.58, 12.24, 4.27, 4.28)
608673
HSPB8 (12q24.23)
Heat shock 27kDa protein 8



Charcot-Marie-Tooth neuropathy Type 2P (14.61)
614436
LRSAM1 (9q33.3)
Leucine rich repeat and sterile alpha motif containing 1



Charcot-Marie-Tooth neuropathy Type 2Q (14.62)
615025
DHTKD1 (10p14)
Dehydrogenase E1 and transketolase domain containing 1 (M)



Charcot-Marie-Tooth neuropathy Type 2R (14.90)
615490
TRIM2 (4q31.3)
Tripartite motif containing 2



Charcot-Marie-Tooth neuropathy Type 2T (14.92, 13.39)
617017
MME (3q25.2)
Membrane metallo-endopeptidase



Charcot-Marie-Tooth neuropathy Type 2U (14.63, 15.62)
616280
MARS1 (12q13.3)
Methionyl-tRNA synthetase



Charcot-Marie-Tooth neuropathy Type 2V (14.64)
616491
NAGLU (17q21.2)
N-acetyl-alpha-glucosaminidase



Charcot-Marie-Tooth neuropathy Type 2W (14.65)
616625
HARS (5q31.3)
Histidyl-tRNA synthetase



Charcot-Marie-Tooth neuropathy Type 2X (15.27, 12.58, 14.93)
616668
SPG11 (15q21.1)
SPG11 vesicle trafficking associated, Spatacsin



Charcot-Marie-Tooth neuropathy Type 2Y (5.37, 4.22, 12.67, 1.56, 14.66)
616687
VCP (9p13-p12)
Valosin-containing protein



Charcot-Marie-Tooth neuropathy Type 2Z (14.67)
616688
MORC2 (2q12.2)
MORC family CW-type zinc finger 2



Charcot-Marie-Tooth neuropathy Type 4B3 (14.25)
SBF1 (22q13.33)
SET binding factor 1



Charcot-Marie-Tooth neuropathy Type 4E (14.4, 14.28, 14.45)
605253
EGR2 (10q21.1)
Early growth response 2 protein



Charcot-Marie-Tooth neuropathy Type 4F (14.26)
601596
SH3TC2 (5q32)
KIAA1985 protein



Charcot-Marie-Tooth neuropathy Type 4G (14.31)
605285
HK1 (10q22.1)
Hexokinase 1 (M)



Charcot-Marie-Tooth neuropathy Type 4H (14.32)
609311
FGD4 (12p11.21)
Actin-filament binding protein Frabin



Charcot-Marie-Tooth neuropathy Type 4K (14.34)
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 (14.42)
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 (14.37, 14.45)
302800
GJB1 (Xq13.1)
Gap junction protein, beta 1, 32kDa (connexin 32)



Charlevoix disease (14.126)
218000
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



Childhood-onset myopathy with hyperCKaemia (5.49)
PACSIN3 (11p11.2)
Protein kinase C and casein kinase substrate in neuron 3



CMT recessive intermediate D (14.89)
616039
COX6A1 (12q24.31)
Cytochrome c oxidase subunit VIa polypeptide 1 (M)



CMT2 related to KIF5A (15.6, 14.73, 12.78)
KIF5A (12q13.13)
Kinesin family member 5A



Coenzyme Q10 deficiency (13.110)
619028
COQ5 (12q24.31)
Coenzyme Q5 Methyltransferase (M)



Coenzyme Q10 deficiency 1 (17.48)
607426
COQ2 (4q21.23)
Coenzyme Q2 (M)



Coenzyme Q10 deficiency 5 (17.50)
614654
COQ9 (16q21)
Coenzyme Q9 (M)



Coenzyme Q10 deficiency 6 (17.51)
614650
COQ6 (14q24.3)
Coenzyme Q6 (M)



Coenzyme Q10 deficiency 7 (17.52, 15.99)
COQ4 (9q34.11)
Coenzyme Q4 (M)



Coenzyme Q10 deficiency 8 (17.53, 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 (17.46)
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 (17.45)
618855
FASTKD2 (2q33.3)
Fast Kinase Domains 2



Combined oxidative phosphorylation deficiency 50 (17.47)
619025
MRPS25 (3p25.1)
Mitochondrial ribosomal protein S25 (M)



Combined Oxidative phosphorylation Deficiency 6 (14.40, 17.44, 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 (12.103, 14.132, 12.14)
VRK1 (14q32)
Vaccinia related kinase 1



Congenital amyotrophy (3.63)
CACNA1H (16p13.3)
Calcium channel, voltage-dependent, T type, aplpha-1H subunit



congenital cataracts, facial dysmorphism, and neuropathy (14.131)
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, 14.81)
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 (1.35, 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, 1.51)
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 (1.50, 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, 3.38, 3.1, 3.37, 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 related to GMPPB (1.52, 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 (3.30, 3.29)
614399
MEGF10 (5q23.2)
Multiple EGF-like-domains 10



Congenital myopathy 10B, mild variant (3.30, 3.29)
620249
MEGF10 (5q23.2)
Multiple EGF-like-domains 10



Congenital Myopathy 11 (10.120, 3.43)
619967
HACD1 (10p12.33)
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase



Congenital myopathy 12 (3.41)
612540
CNTN1 (12q11-q12)
Contactin-1



Congenital myopathy 13 (3.51, 3.52)
255995
STAC3 (12q13.3)
SH3 and cysteine rich domain 3



Congenital myopathy 14 (3.53)
618414
MYL1 (2q34)
Myosin, light polypeptide 1, alkali, skeletal fast



Congenital myopathy 15 (3.54)
620161
TNNC2 (20q13.12)
Troponin C Fast



Congenital myopathy 16 (17.10, 12.93, 3.55)
618524
MYBPC1 (12q23.2)
Myosin-binding proteinC, slow type



Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia (8.1, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64)
117000
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



Congenital myopathy 1B, recessive (8.1, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64)
255320
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



Congenital Myopathy 22A, classic (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60)
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, 3.59, 17.34, 3.60)
620369
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



Congenital myopathy 25 (3.66)
620964
JPH1 (8q21.11)
Junctophilin 1



Congenital myopathy 2A, typical (3.2, 3.38, 3.1, 3.37, 2.46)
161800
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



Congenital myopathy 2B, severe infantile (3.2, 3.38, 3.1, 3.37, 2.46)
161800
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



Congenital myopathy 2C, severe infantile, dominant (3.2, 3.38, 3.1, 3.37, 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, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101)
611705
TTN (2q31)
Titin



Congenital myopathy 6 with ophtalmoplegia (3.34)
605637
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle



Congenital myopathy 7A, myosin storage, autosomal dominant (4.6, 3.31, 10.56, 3.33, 10.108, 3.32)
608358
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



Congenital myopathy 7B, myosin storage, autosomal recessive (4.6, 3.31, 10.56, 3.33, 10.108, 3.32)
255160
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



Congenital myopathy 8 (10.64, 10.25, 3.48, 4.10)
618654
ACTN2 (1q42-q43)
Actinin alpha2



Congenital myopathy 9A (3.49, 3.50)
618822
FXR1 (3q26.33)
FMR1 autosomal homolog



Congenital myopathy 9B, proximal with minicore (3.49, 3.50)
618823
FXR1 (3q26.33)
FMR1 autosomal homolog



Congenital Myopathy related to PYROXD1 (5.9, 1.58, 3.61)
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1



Congenital Myopathy related to TNPO3 (1.17, 3.62)
TNPO3 (7q32.1-q32.2)
Transportin 3



Congenital myopathy with fatal cardiomyopathy (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101)
TTN (2q31)
Titin



Congenital myopathy with ophthalmoplegia related to CACNA1S (7.8, 8.5, 3.44, 1.23, 3.57)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



Congenital myopathy with Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction (3.67)
SOX8 (16p13.3)
SRY-Box 8



congenital skeletal myopathy and fatal cardiomyopathy (10.4, 3.40, 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 (15.87)
303350
L1CAM (Xq28)
L1 cell adhesion molecule



CRASH syndrome (15.87)
307000
L1CAM (Xq28)
L1 cell adhesion molecule



Creatine phosphokinase, elevated serum (1.20, 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) (1.20, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16)
123320
CAV3 (3p25.3)
Caveolin 3