Summary
A second genetic revolution is approaching thanks to next-generation DNA sequencing technologies. In the next few years, the 1,000$-genome sequencing promises to reveal every individual variation of DNA. There is, however, a major problem: the identification of thousands of nucleotide changes per individual with uncertain pathological meaning. This is also an ethical issue. In the middle, there is today the possibility to address the sequencing analysis of genetically heterogeneous disorders to selected groups of genes with defined mutation types. This will be cost-effective and safer.
We assembled an easy-to manage overview of most Mendelian genes involved in myopathies, cardiomyopathies, and neuromyopathies. This was entirely put together using a number of open access web resources that are listed below. During this effort we realized that there are unexpected countless sources of data, but the confusion is huge. In some cases, we got lost in the validation of disease genes and in the difficulty to discriminate between polymorphisms and disease-causing alleles. In the table are the annotated genes, their associated disorders, genomic, mRNA and coding sizes. We also counted the number of pathological alleles so far reported and the percentage of single nucleotide mutations.
| Gene; symbol (OMIM) | Chrom | Gene size (bp) | RefSeq (mRNA) | Exon no. | mRNA (ORF) | Disease symbol (OMIM) | Inh | Variants(unique) | Subst% |
| Abhydrolase domain containing 5; ABHD5 (604780) | 3p21 | 27,000 | NM_016006 | 7 | 5,370 (1,050) | Chanarin-Dorfam syndrome; CDS (275630) | AR | H=20 | 80% |
| Acetylcholine receptor cholinergic receptor, nicotinic, alpha1 muscle; CHRNA1 (100690) | 2q31.1 | 16,877 | NM_001039523 | 10 | 2,094(1,449) | Myasthenic syndrome,fast-channel congenital; FCCMS (608930) | AD | H=18 | 89% |
| Myasthenic syndrome,slow-channel congenital; SCCMS (601462) | AD | ||||||||
| Acetylcholinesterase collagen-like tail subunit; COLQ (603033) | 3p24.2 | 71,618 | NM_005677 | 17 | 3,007(1,368) | Congenital myasthenicsyndrome with endplate acetylcholinesterase deficiency; EAD (603034) | AR | H=28 | 75% |
| Acid alpha-glucosidase preproprotein;GAA (606800) | 17q25.3 | 18,324 | NM_000152 | 20 | 3,847(2,859) | Glycogen storage disease II; GSDII (232300) | AR | L=230H=284 | 75% |
| Actin, alpha 1, skeletal muscle; ACTA1 (102610) | 1q42.13 | 2,849 | NM_001100 | 7 | 1,509(1,134) | Myopathy, congenital, with fiber-type disproportion; CFTD (255310) | AD | L=325(199)H=87 | 85% |
| Nemaline myopathy;NEM3 (161800) | AD | ||||||||
| Actin, alpha, cardiac muscle precursor; ACTC1 (102540) | 15q14 | 7,630 | NM_005159 | 7 | 3,693(1,134) | Familial hypertrophic cardiomyopathy, 11; CMH11 (612098) | AD | H=9 O=9 | 100% |
| Actinin alpha2; ACTN2 (102573) | 1q43 | 77,789 | NM_001103 | 21 | 4,528(2,685) | Cardiomyopathy, dilated, 1AA; CMD1AA (612158) | AD | H=5 | |
| Activin A receptor,type II-like kinase 2;ACVR1 (102576) | 2q24.1 | 138,666 | NM 001105 | 9 | 3,062(1,530) | Fibrodysplasia ossificans progressiva;FOB (135100) | AD | H=13 | 92% |
| Acyl-Coenzyme Adehydrogenase, very long chain; ACADVL (609575) | 17p13.1 | 5,432 | NM_000018 | 20 | 2,205(1,968) | Acyl-CoA dehydrogenase, very long-chain, deficiency of; VLCAD (201475) | AR | H=108 | 74% |
| Adipose triglyceridelipase (desnutrin);PNPLA2 (609059) | 11p15.5 | 6,315 | NM_020376 | 9 | 2071(1,515) | Neutral lipid storage disease with myopathy; NLSDM (610717) | AR | H=8 | |
| Aldehyde dehydrogenase 3 family, member A2; ALDH3A2 (609523) | 17p11.2 | 28,840 | NM_001031806 | 11 | 3823(1,458) | Spastic paraplegia, complicated recessive (Sjögren-Larsson syndrome); SLS (270200) | AR | H=77 | 57% |
| Alsin; ALS2 (606352) | 2q33.1 | 80,908 | NM_020919 | 34 | 6935(4,794) | Amyotrophic lateral sclerosis 2, juvenile; ALS 2 (205100) | AR | H=12 | 100% |
| Primary lateral sclerosis, juvenile; PLSJ (606353) | AR | ||||||||
| Spastic paralysis, infantile onset ascending; IAHSP (607225) | AR | ||||||||
| Amylo-1,6-glucosidase, 4-alpha-glucanotransferase; AGL (610860) | 1p21 | 73,900 | NM_000642 | 34 | 7,368(4,599) | Glycogen storagedisease IIIa; GSDIIIa (232400) | AR | H=91 | 56% |
| Androgen receptor; AR (313700) | Xq12 | 180,245 | NM_000044 | 8 | 4314(2,763) | Androgen insensitivity;AIS (300068) | XR | H=363 | 82% |
| Breast cancer, male, with Reifenstein syndrome;DHTR (312300) | XR | ||||||||
| Prostate cancer; AR (176807) | XR | ||||||||
| Spinal and bulbar muscular atrophy of Kennedy; SBMA (313200) | XR | ||||||||
| Ankyrin 2; ANK2(106410) | 4q25-q26 | 334,110 | NM_001148 | 46 | 14,241(11,874) | Cardiac arrhythmia, ankyrin-B-related; LQT4 (600919) | AD | H=10 O=15 | |
| Anoctamin 5; ANO5 (608662) | 11p14.3 | 90,192 | NM_213599 | 22 | 6,661(2,742) | Limb-Girdle, Muscular dystrophy, type 2L; LGMD2L (611307) | AR | L=58 (28) H=2 | 82% |
| Aprataxin; APTX(606350) | 9p13.3 | 29,018 | NM_175073 | 9 | 2,086(1,029) | Ataxia, Early-Onset, with Oculomotor Apraxiaand Hypoalbuminemia; EAOH (208920) | AR | H=15 | 80% |
| Ataxin 1; ATXN1 (601556) | 6p22.3 | 462,378 | NM_000332 | 8 | 10,636(2,448) | Spinocerebellar Ataxia 1; SCA1 (164400) | AD | CAG repeat expansion in coding seq | |
| Ataxin 10; ATXN10 | 22q13.31 | 173,142 | NM_013236 | 12 | 3,340(1,428) | Spinocerebellar ataxia 10; SCA10 (603516) | AD | ATTCT repeat expansion in intron 9 | |
| Ataxin 2; ATXN2(601517) | 12q24.1 | 147,462 | NM_002973 | 25 | 4,712(3,942) | Spinocerebellar Ataxia 2; SCA2 (183090) | AD | CAG repeat expansion in coding seq | |
| Ataxin 3; ATXN3 (607047) | 14q32.12 | 48,069 | NM_004993 | 11 | 6923(1,086) | Spinocerebellar Ataxia 3; SCA3 (109150) | AD | CAG repeat expansion in coding seq | |
| Ataxin 7; ATXN7 (607640) | 3p14.1 | 138,902 | NM_000333 | 13 | 7242(2,679) | Spinocerebellar Ataxia 7; SCA7 (164500) | AD | CAG repeat expansion in coding seq | |
| Ataxin 8 opposite strand; ATXN8OS (613289) | 13q21.33 | 32,541 | NR_002717 | 5 | 1,472(0) | Spinocerebellar Ataxia 8; SCA8 (608768) | AD | ‘CTG*CAG’ repeat expansion in opposite genes | |
| Atlastin GTPase 1; ATL1 (606439) | 14q22.1 | 73,040 | NM_015915 | 14 | 2,652(1,677) | Spastic paraplegia 3(Strumpell disease); SPG3A (182600) | AD | H=27 | |
| ATPase, Ca++ transporting, fast twitch 1; ATP2A1 (108730) | 16q12 | 26,000 | NM_004320 | 23 | 3,570(2,985) | Brody myopathy; 601003 | AR | H=8 | |
| ATP-binding cassette, sub-family C (member 9); ABCC9 (601439) | 12p12.1 | 139,303 | NM_020297 | 38 | 8,312(4,650) | Cardiomyophaty, dilated, 1o; CMD1O (608569) | AD | H=5 | |
| BCL2-associated athanogene 3; BAG3 (603883) | 10q26.11 | 26,446 | NM_004281 | 4 | 2,608(1,728) | Myofibrillar myopathy with BAG3 defect; -612954 | AD | L=14 (9)H=1 | 79% |
| Berardinelli-Seip congenital lipodystrophy 2 (seipin); BSCL2 (606158) | 11q12.3 | 19,300 | NM_001130702 | 11 | 2,014(1,389) | Neuronopathy, distal hereditary motor, type V; HMN5 (600794) | AD | H=21 | 48% |
| Spastic paraplegia 17; SPG17 (270685) | AD | ||||||||
| Bridging integrator 1; BIN1 (601248) | 2q14.3 | 59,258 | NM_139343 | 19 | 2637(1,782) | Centronuclear myopathy, recessive; 255200 | AR | ||
| Calcium channel, voltage-dependent, beta 2 subunit; CACNB2 (600003) | 10p12.33-p12.31 | 401.083 | NM_201596 | 14 | 4,078(1,983) | Brugada syndrome 4; BRUGADA SYNDROME 4 (611876) | AD | H=2 | |
| Calcium channel,voltage-dependent, L type, alpha 1C subunit; CACNA1C (114205) | 12p13.33 | 644,700 | NM_000719 | 47 | 13,480(6,417) | Timothy syndrome/Brugada syndrome 3; TS (601005)/BRUGADA SYNDROME (611875) | AD | H=4 | |
| Calcium channel, voltage-dependent, L type, alpha 1S subunit; CACNA1S (114208) | 1q31-q32 | 73,054 | NM_000069 | 44 | 6,168(5,622) | Hypokalaemic periodic paralysis; HOKPP1 (170400) | AD | L=86 (14) | 100% |
| Malignant hyperthermia susceptibility 5; MHS5 (601887) | AD | ||||||||
| Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; CACNA1A (601011) | 19p13 | 300,020 | NM_001127221 | 47 | 8,626(6,786) | Acetazolamide-responsive hereditary paroxymal cerebellar ataxia; APCA/ EA2 (108500) | AD | L=101 (88) | 98 |
| Calpain 3; CAPN3 (114240) | 15q15.1 | 52,818 | NM_000070 | 24 | 3,316(2,466) | Limb-Girdle, Muscular dystrophy, type 2A; LGMD2A (253600) | AR | L=1,848 (452)H=258 | 60% |
| Calsequestrin 2 (cardiac muscle); CASQ2 (114251) | 1p13.1 | 68,799 | NM_001232 | 11 | 2,527(1,200) | Ventricular tachycardia,catecholaminergic polymorphic, 2; CPVT2 (611938) | AR | H=11 | |
| Carboxy-terminal domain, RNA polymerase II, polypeptide A phosphatase, subunit 1; CTDP1 (604927) | 18q23 | 74,707 | NM_004715 | 13 | 3,775(2,886) | Congenital cataracts, facial dysmorphism and neuropathy; CCFDN (604168) | AR | H=1 | |
| Carnitine palmitoyltransferase II; CPT2 (600650) | 1p32.3 | 17,767 | NM_000098 | 5 | 3,092(1,977) | Carmitine palmitoyltransferase deficiency; CPT2 (255110) | AR | H=72 | 75% |
| Carnitine-acylcarnitine translocase; SLC25A20 (212140) | 3p21.31 | 42,046 | NM_000387 | 9 | 1,219(906) | Carnitine acylcarnitine translocase deficiency; CACT Deficiency (212138) | AR | H=27 | 56% |
| Caveolin 3; CAV3 (601253) | 3p25.3 | 12,955 | NM_001234 | 2 | 1,420(456) | Distal myopathy with caveolin defect; | AD | L=319 (64) H=27 O=17 (14) | 92% |
| Familial hypertrophic cardiomyopathy, 13; CMH (192600) | AD | ||||||||
| Hyperckemia, idiopathic; CPK Elevated (123320) | AD | ||||||||
| Limb-Girdle, Muscular dystrophy, type 1C; LGMD1C (607801) | AD | ||||||||
| Long QT syndrome 9; LQT9 (611818) | AD | ||||||||
| Rippling muscle disease, recessive; RMD (606072) | AR | ||||||||
| Rippling muscle disease; RMD2 (606072) | AD | ||||||||
| Chaperone-activity of bc1 complex homolog; CABC1 (606980) | 1q42.13 | 47,308 | NM_020247 | 15 | 2,924(1,944) | Spinocerebellar Ataxia 9; SCAR9 (612016)Coenzyme q10 deficiency (607426) | AR | ||
| Chloride channel 1, skeletal muscle; CLCN1 (118425) | 7q34 | 35,879 | NM_000083 | 23 | 3,093(2,967) | Myotonia congenita, autosomal recessive,Becker disease; MCR (255700) | AR | H=134 | 89% |
| Myotonia dominant (Thomsen disease); THD (160800) | AD | ||||||||
| Choline acetyltransferase isoform; CHAT (118490) | 10q11.23 | 51,997 | NM_020986 | 15 | 2,124(1,893) | Myasthenic syndrome, congenital, associated with episodic apnea; CMS-EA (254210) | AR | H=15 | |
| Cholinergic receptor, nicotinic, beta 1 muscle; CHRNB1 (100710) | 17p13.1 | 12,526 | NM_000747 | 11 | 2,436(1,506) | Myasthenic syndrome,congenital, Ie, included -; CMS1E (608931) | AR | H=5 | |
| Myasthenic syndrome, slow-channel congenital; SCCMS (601462) | AR | ||||||||
| Cholinergic receptor, nicotinic, gamma; CHRNG (100730) | 2q37.1 | 6,602 | NM_005199 | 12 | 2,187(1,554) | Escobar syndrome; CHRNG (265000) | AR | L=34 (25) H=14 | 50% |
| Cholinergic receptor, nicotinic, delta; CHRND (100720) | 2q37.1 | 9,283 | NM_000751 | 12 | 1,740(1,554) | Myasthenic syndrome, fast-channel congenital; FCCMS (608930) | AD | H=4 | |
| Myasthenic syndrome, slow-channel congenital; SCCMS (601462) | AD | ||||||||
| Cholinergic receptor, nicotinic, epsilon; CHRNE (100725) | 17p13.2 | 5,306 | NM_000080 | 12 | 2,460(1,482) | Myasthenic syndrome,fast-channel congenital; FCCMS (608930) | AD/AR | H=89 | 56% |
| Myasthenic syndrome,slow-channel congenital; SCCMS (601462) | AD/AR | ||||||||
| Chromosome 10 open reading frames; C10orf2 (606075) | 10q24.31 | 6,866 | NM_021830 | 5 | 3,621(2,055) | Progressive External Ophthalmoplegia with Mitochondrial Deletion 3; PEOA3 (609286) | AD | H=19 | |
| Spinocerebellar Ataxiainfantile-onset; IOSCA (271245) | AR | ||||||||
| Cofilin 2 (muscle); CFL2 (601443) | 14q13.1 | 3,436 | NM_021914 | 4 | 3,125(501) | Nemaline myopathy; NEM7 (610687) | AR | L=17 (11) | 13 |
| Collagen, type VI,alpha 1; COL6A1 (120220) | 21q22.3 | 23,301 | NM_001848 | 35 | 4,225(3,087) | Bethlem myopathy; 158810 | AD | L=92 (41) H=28 | 89% |
| Ullrich syndrome; UCMD (254090) | AR | ||||||||
| Collagen, type VI,alpha 2; COL6A2 (120240) | 21q22.3 | 34,731 | NM_001849 | 28 | 3,439(3,060) | Bethlem myopathy;158810 | AD | L=145 (55)H=31 | 91% |
| Ullrich syndrome; UCMD (254090) | AR | ||||||||
| Collagen, type VI, alpha 3; COL6A3 (120250) | 2q37.3 | 90,196 | NM_004369 | 44 | 10,581(9,534) | Bethlem myopathy (recessive); 158810 | AR | L=218 (47) H=20 | 93% |
| Bethlem myopathy; 158810 | AD | ||||||||
| Ullrich syndrome; UCMD (254090) | AR | ||||||||
| Connexin 40; GJA5 (121013) | 1q21.2 | 17,153 | NM_005266 | 2 | 3,176(1,077) | Atrial fibrillation, familial, 1; ATFB1 (608583) | AD | H=2 | |
| Contactin 1; CNTN1 (600016) | 12q12 | 377,737 | NM_001843 | 24 | 3,427(3,057) | Congenital lethal myopathy; 612540 | AR | 214 | |
| Crystallin, alpha B;CRYAB (123590) | 11q23.1 | 3,124 | NM_001885 | 3 | 691(528) | Cataract, posterior polar 2; CRYA2(123590) | AD | L=47 (19)H=13 | 76% |
| Myofibrillar myopathy, alpha-B crystallin related; MFM (608810) | AD | ||||||||
| Cysteine and glycine-rich protein 3 (cardiac LIM protein); CSRP3 (600824) | 11p15.1 | 20,012 | NM_003476 | 6 | 1,341(585) | Cardiomyopathy, dilated, 1m; CMD1M (607482) | AD | H=13 | |
| Desmin; DES (125660) | 2q35 | 8,361 | NM_001927 | 9 | 2,246(1,413) | Cardiomyopathy, dilated, 1I -; CMD1I (604765) | AD | L=202 (57) H=52 | 89% |
| Myopathy MyofibrillarDesmin related; DRM (601419) | AD | ||||||||
| Desmocollin 2; DSC2 (125645) | 18q12.1 | 36,445 | NM_024422 | 16 | 5,197(2,706) | Arrhythmogenic right ventricular dysplasia, 11; ARVD11 (610476) | AD | L=64 (60) H=3 O=69 | 61% |
| Desmoglein 2; DSG2 (125671) | 18q12.1 | 50,787 | NM_001943 | 16 | 5,652(3,357) | Arrhythmogenic right ventricular dysplasia, 10; ARVD10 (610193) | AD | L=113 (92) H=23 O=107 | 78% |
| Desmoplakin; DSP (125647) | 6p24.3 | 45,077 | NM_004415 | 24 | 9,730(8,616) | Arrhythmogenic right ventricular dysplasia, familial, 8; ARVD8 (607450) | AD | H=35 O=5 | 83% |
| Docking protein 7; DOK7 (610285) | 4p16.3 | 31,176 | NM_173660 | 7 | 2,565(1,515) | Familial limb-girdle myasthenia; LGM (254300) | AR | L=129(34) H=19 | 15% |
| Dynactin 1; DCTN1(601143) | 2p13.1 | 19,194 | NM_004082 | 32 | 4,492(3,837) | Neuronopathy, distal hereditary motor, typeVIIB; HMN7B (607641) | AD | H=5O=1 | 100% |
| Dynamin 2; DNM2 (602378) | 19p13.2 | 113,825 | NM_001005360 | 21 | 3633(2,613) | Centronuclear myopathy, dominant; CNM (160150) | AD | H=7 O=6 | 71% |
| Charcot-Marie-Toothneuropathy, dominantintermediate B; CMTDIB (606482) | AD | ||||||||
| Congenital musculardystrophy with dynamin 2 defect; | AD | ||||||||
| Dynamin2 related distal myopathy; CNM (160150) | AD | ||||||||
| Dysferlin; DYSF (603009) | 2p13.2 | 220,061 | NM_001130987 | 56 | 6,771(6,360) | Distal recessive myopathy (Miyoshi myopathy); MMD1 (254130) | AR | L=1122(415) H=151 | 68% |
| Muscular dystrophy, limb-girdle, type 2B; LGMD2B (253601) | AR | ||||||||
| Myopathy, distal, with anterior tibial onset;DMAT (606768) | AR | ||||||||
| Dystrobrevin, alpha; DTNA (601239) | 18q12.1 | 398,555 | NM_032975 | 22 | 6,522(2,061) | Left ventricular noncompaction with congenital heart defects; LVNC with CHD (606617) | AD | H=1 | |
| Left ventricular noncompaction, familial isolated; LVNC (604169) | AD | ||||||||
| Dystrophin; DMD (300377) | Xp21.2-p21.1 | 2,092,329 | NM_004006 | 79 | 13,993(11,058) | Dilated cardiomyopathy due to dystrophin defect; XLCM; CMD3B (302045) | XR | L=21,361 (3,793) H=1,070 O=2,898 | 71% of small mut.14.9% |
| Duchenne/Becker Muscular Dystrophies; BMD (300376); DMD (310200) | XR | ||||||||
| Early growth response 2 protein; EGR2 (129010) | 10q21.3 | 4,367 | NM_000399 | 2 | 2,974(1,431) | Charcot-Marie-Tooth disease, type 1D; CMT1D (607668) | AD | H=10 O=12 | 95% |
| Charcot-Marie-Tooth neuropathy Type 4E; CMT4E (605253) | AD | ||||||||
| Dejerine-Sottas neuropathy; DSN (145900) | AD | ||||||||
| Electron-transfer-flavoprotein, alpha polypeptide; ETFA (608053) | 15q24.2-q24.3 | 95,182 | NM_000126 | 12 | 1,352(1,002) | Multiple acyl-CoA dehydrogenase deficiency; MADD (231680) | AR | H=25 | 64% |
| Electron-transfer-flavoprotein, beta polypeptide; ETFB (130410) | 19q13.41 | 21.263 | NM_001985 | 6 | 915(768) | Multiple acyl-CoA dehydrogenase deficiency; GAIIB (231680) | AR | H=12 | 75% |
| Electron-transferring-flavoprotein dehydrogenase; ETFDH (231675) | 4q32.1 | 36,563 | NM_004453 | 13 | 2,346(1,854) | Glutaric aciduria type IIC; GAIIC (231680) | AR | H=70 | 89% |
| Emerin; EMD (300384) | Xq28 | 2,285 | NM_000117 | 6 | 1,337(765) | Emery-Dreifuss muscular dystrophy, X-linked , type 1; EDMD1 (310300) | XR | L=324 (106) H=81 | 41% |
| Enolase 3, beta muscle specific; ENO3 (131370) | 17p13.2 | 6,037 | NM_001976 | 12 | 1,521(1,305) | Glycogen storage disease XIII; GSD13 (612932) | AD | H=2 | |
| Epsilon-sarcoglycan;SGCE (604149) | 7q21.3 | 70,986 | NM_001099401 | 12 | 1,773(1,389) | Myoclonus-dystonia syndrome; DYT11 (159900) | AD | L=80 (53)H=39 | 67% |
| Eyes absent 4; EYA4 (603550) | 6q23.2 | 290,763 | NM_004100 | 20 | 5,692(1,920) | Cardiomyophaty, dilated, 1J; CMD1J (605362) | AD | H=8 | |
| Deafness, autosomal dominant 10; DFNA10 (601316) | AD | ||||||||
| Fibroblast growthfactor 14; FGF14 (601515) | 13q33.1 | 680,920 | NM_175929 | 5 | 2,829(759) | Spinocerebellar Ataxia 27; SCA27 (609307) | AD | H=2 | |
| Filamin A, alpha (actin binding protein 280); FLNA (300017) | Xq28 | 26,106 | NM_001456 | 47 | 8,486(7,920) | Cardiovalvular dysplasia, X-linked (Myxomatous valvular dystrophy); CVD1 (314400)Frontometaphyseal dysplasia; FMD (305620)FG syndrome 2; FGS2 (300321)Heterotopia, periventricular, X-linked dominant (300049)Otopalatodigital syndrome, type I; OPD1 (311300) | XR | L=413(83) | 80% |
| Filamin C, gamma (actin-binding protein - 280); FLNC (102565) | 7q32.1 | 28,845 | NM_001458 | 48 | 9,137(8,178) | Myopathy miofibrillarfilaminC-related; MFM (609524) | AD | L=1H=2 | 1 |
| Four and a half LIMdomains 1; FHL1 (300163) | Xq26.3 | 63,960 | NM_001159702 | 8 | 2,706(843) | Emery-Dreifuss muscular dystrophy, X-linked, type 2; EDMD6 (300696) | XR | L=64 (22) | 82% |
| X-linked myopathy with postural muscle atrophy; XMPMA (300696) | XR | ||||||||
| Scapuloperoneal myopathy; SPM (300695) | XD | ||||||||
| Frataxin; FXN (606829) | 9q21.11 | 43,515 | NM_000144 | 5 | 7,168(633) | Friedreich Ataxia 1; FRDA (229300) | AR | H=39GAA expansion | 69% |
| Fukutin related protein; FKRP (606596) | 19q13.32 | 12,530 | NM_024301 | 4 | 3,422(1,488) | Congenital muscular dystrophy and abnormal glycosylation of dystroglycan; MDC1C (606612) | AR | L=536(142)H=57 | 94% |
| Limb-Girdle, Muscular dystrophy, type 2I; LGMD2I (607155) | AR | ||||||||
| Muscle-eye-brain disease; MEB (253280) | AR | ||||||||
| Walker-Warburg syndrome; WWS (236670) | AR | ||||||||
| Fukutin; FKTN (607440) | 9q31.2 | 82,988 | NM_001079802 | 11 | 7,455(1,386) | Dilated cardiomyopathy, 1X; CMD1X (611615) | AR | L=141(45) H=18 | 53% |
| Fukuyama congenital muscular dystrophy; FCMD (253800) | AR | ||||||||
| Limb-Girdle, Muscular dystrophy, type 2M; LGMD2M (611588) | AR | ||||||||
| Walker-Warburg syndrome; WWS (236670) | AR | ||||||||
| FYVE RhoGEF and PH domain-containing protein 4; FGD4 (611104) | 12p11.21 | 143,942 | NM_139241 | 17 | 8,393(2,301) | Charcot-Marie-Tooth neuropathy Type 4H; CMT4H (609311) | AR | H=3 O=5 | |
| Galactosidase alfa;GLA (300644) | Xq22.1 | 10,223 | NM_000169 | 7 | 1,418(1,290) | Fabry disease; 301500 | XR | H=472 | 73% |
| Ganglioside-induceddifferentiation-associated protein 1;GDAP1 (606598) | 8q21.11 | 16,716 | NM_018972 | 6 | 3,887(1,077) | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis; CMT4A (=CMT2H) (607706) | AR | H=27 O=28 | 74% |
| Charcot-Marie-Tooth disease, axonal, type 2K; CMT2K (607831) | AR | ||||||||
| Charcot-Marie-Tooth disease, type 4A; CMT4A (214400) | AR | ||||||||
| Gap junction protein, beta 1; GJB1 (304040) | Xq13.1 | 2,010 | NM_000166 | 2 | 1,654(852) | Charcot-Marie-Toothneuropathy X-linked 1; CMTX1 (302800) | XD | H=278 O=305 | 83% |
| Déjerine-Sottas hypertrophic neuropathy - digenic with EGR2; o(145900) | XR | ||||||||
| Gigaxonin; GAN (605379) | 16q23.2 | 65,231 | NM_022041 | 11 | 4,542(1,794) | Giant axonal neuropathy; GAN (256850) | AR | H=32 O=44 | |
| GLE1: S. Cerevisiae, homolog-like (yeast); (603371) | 9q34.11 | 37,609 | NM_001003722 | 16 | 3,341(1,980) | Lethal arthrogryoposis with anterior horn cell disease; LAAHD (611890) Lethal congenital contracture syndrome 1; LCCS1 (253310) |
AR | ||
| Glucan (1,4-alpha-),branching enzyme; GBE1 (607839) | 3p12.2 | 272,101 | NM_000158 | 16 | 3,099(2,109) | Glycogen storage disease type IV; GSDIV (232500) | AR | H=33 | |
| Glycogen phosphorylase; PYGM (608455) | 11q13.1 | 14,326 | NM_005609 | 20 | 3,615(2,529) | Glycogen storage disease V; (McArdle disease) GSD5 (232600) | AR | H=131 | |
| Glycogen synthase3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle); GYS1 (138570) | 19q13.33 | 25,228 | NM_002103 | 16 | 3,617(2,214) | Glycogen storage disease 0, muscle; GSD0b (611556) | AR | H=3 | |
| Glycyl-tRNA synthetase; GARS (600287) | 7p14.3 | 39,466 | NM_002047 | 17 | 2,747(2,220) | Charcot-Marie-Tooth disease, axonal, type 2D; CMT2D (601472) | AD | H=4 | |
| Neuropathy, distal hereditary motor type V;HMNV (600794) | AD | ||||||||
| Heat shock27kDa protein 1; HSPB1(602195) | 7q11.23 | 1,739 | NM_001540 | 3 | 896(618) | Charcot-Marie-Toothneuropathy, axonal, Type 2F; CMT2F (606595) | AD | H=6 | 100% |
| Neuronopathy, distal hereditary motor, type IIB neuronopathy, distal her; HMN2B (608634) | AD | ||||||||
| Heat shock 22kDaprotein 8; HSPB8 (608014) | 12q24.23 | 15,956 | NM_014365 | 3 | 2,001(591) | Charcot-Marie-Tooth neuropathy Type 2L; CMT2L (608673) | AD | H=3 O=4 | |
| Neuropathy, distal hereditary motor, type IIA; HMN2A (158590) | AD | ||||||||
| Heat shock 60kDa protein 1 (chaperonin); HSPD1 (118190) | 2q33.1 | 13,689 | NM_199440 | 12 | 2,299(1,722) | Leukodystrophy, hypomyelinating, 4; HLD4 (612233) | AR | H=1O=2 | |
| Spastic paraplegia 13; SPG13 (605280) | AD | ||||||||
| Homeobox D10; HOXD10 (142984) | 2q31.1 | 3,178 | NM_002148 | 2 | 1,803(1,023) | CMT with Congenital vertical talus; CVT (192950) | AD | H=1 | |
| Hyperpolarization activated cyclic nucleotide-gated potassium channel 4; HCN4 (605206) | 15q24.1 | 49,405 | NM_005477 | 8 | 7,227(3,612) | Sick sinus syndrome, dominant; SSS2(163800)Brugada syndrome 8 (613123) | AD | H=3 O=2 | |
| Immunoglobulin mu binding protein 2; IGHMBP2 (600502) | 11q13.3 | 36,751 | NM_002180 | 15 | 3,954(2,982) | Spinal muscular atrophy with respiratory distress; DSMA1 (SMARD1) (604320) | AR | H=45 O=55 | 78% |
| Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein; IKBKAP (603722) | 9q31.3 | 66,808 | NM_003640 | 37 | 6,113(3,999) | Familial dysautonomia (Riley-Day syndrome); HSAN3 (223900) | AR | H=3 O=4 | |
| Inositol 1,4,5-triphosphate receptor type 1; ITPR1 (147265) | 3p26.1 | 354,491 | NM_001099952 | 59 | 10,096(8,133) | Spinocerebellar Ataxia 15; SCA15 (606658) | AD | ||
| Integrin, alpha 7; ITGA7 (600536) | 12q13.2 | 23,331 | NM_002206 | 25 | 4,120(3,414) | Congenital musculardystrophy with integrin defect; 613204 | AR | L=3 (3) | 2 |
| Junction plakoglobin;JUP (173325) | 17q21.2 | 32,106 | NM_002230 | 14 | 3,508(2,238) | Arrhythmogenic rightventricular dysplasia,familial, 12; ARVD12 (611528) | AD | L=85 (39)H=1O=15 | |
| Naxos disease; 601214 | AD | ||||||||
| Kinesin family member 1B; KIF1B (605995) | 1p36.22 | 170,896 | NM_015074 | 47 | 10,579(5,313) | Charcot-Marie-Tooth disease, type 1A; CMT2A1 (118210) | AD | H=1 | |
| Kinesin family member 21A; KIF21A (608283) | 12q12 | 150,162 | NM_017641 | 37 | 6,601(4,686) | Congenital fibrosis ofthe extraocular muscles; CFEOM1(135700) | AD | H=11 | |
| Kinesin family member 5A; KIF5A (602821) | 12q13.3 | 34,708 | NM_004984 | 29 | 3,897(3,099) | Spastic paraplegia 10;SPG10 (604187) | AD | H=4 | |
| L1 cell adhesion molecule; L1CAM (308840) | Xq28 | 14,426 | NM_000425 | 28 | 5,026(3,774) | Spastic paraplegias, X-linkedtype 1 (MASA syndrome X-linked hydrocephalus); SPG1 (303350), HSAS (307000) | XR | H=179 | 68% |
| Lactate dehydrogenase A;LDHA (150000) | 11p15.1 | 13,830 | NM_005566 | 8 | 2,208(999) | Glycogen storage disease XI (Lactate dehydrogenase-A deficiency); GSD11 (612933 | AR | H=8 | |
| Lamin A/C; LMNA (150330) | 1q22 | 25,418 | NM_170707 | 12 | 3,225(1,995) | Charcot-Marie-Toothneuropathy Autosomal recessive 2B1; CMT2B1 (605588) | AR | L=608(252)H=142O=347 | 80.2% |
| Dilated cardiomyopathy, 1A; CMD1A (115200) | AD | ||||||||
| Emery-Dreifuss muscular dystrophy(autosomal dominant);EDMD2 (181350) | AD | ||||||||
| Emery-Dreifuss muscular dystrophy (autosomal recessive);EDMD3 (181350) | AR | ||||||||
| Hutchinson-Gilford progeria syndrome; HGPS (176670) | AD | ||||||||
| Limb-Girdle, Muscular dystrophy, type 1B; LGMD1B (159001) | AD | ||||||||
| Lipodystrophy, familialpartial, type 2; FPLD2 (151660) | AD | ||||||||
| Mandibuloacral dysplasia with type A lipodystrophy; MADA (248370) | AR | ||||||||
| Laminin, alpha 2 (Merosin); LAMA2 (156225) | 6q22.33 | 633,423 | NM_000426 | 65 | 9,690(9,369) | Muscular dystrophy, congenital merosin-deficient, 1A; MDC1A (607855) | AR | L=550(266)H=79 | 67.6% |
| Acetylglucosaminyltransferase-like protein; LARGE (603590) | 22q12.3 | 647,354 | NM_004737 | 16 | 4,200(2,271) | Muscular dystrophy, congenital, type 1D; MDC1D (608840)Walker-Warburg syndrome (236670) | AR | L=29 (24)H=2 | 79% |
| LIM domain binding 3; LDB3 (605906) | 10q23.2 | 67,397 | NM_007078 | 13 | 5,296(2,184) | Cardiomyopathy dilated 1C; CMD1C (601493) | AD | L=79 (17) H=5 | 61% |
| myofibrillar myopathy ZASP-related -; MFMZ (609452) | AD | ||||||||
| Lipopolysaccharide-induced TNF alpha factor; LITAF (603795) | 16p13.13 | 39,225 | NM_001136473 | 5 | 2,565(459) | Charcot-Marie-Tooth neuropathy Type 1C;CMT1C (601098) | AD | H=9 O=19 | |
| Lysosomal-associated membrane protein2 precursor; LAMP2 (309060) | Xq24 | 43,201 | NM_002294 | 9 | 6,587(1,233) | Danon disease; Glycogen storage disease IIb; GSD IIb (300257) | XD | L=11 (6)H=35 | 57% |
| Member RAS-associated protein RAB7; RAB7 (602298) | 3q21.3 | 88,663 | NM_004637 | 5 | 2,232(624) | Charcot-Marie-Tooth neuropathy Type 2B;CMT2B (600882) | AD | ||
| Mitofusin 2; MFN2 (608507) | 1p36.22 | 33,334 | NM_014874 | 19 | 4,676(2,274) | Hereditary motor and sensory neuropathy 2A;CMT2A2 (609260) | AD | H=50 | 96% |
| Myelin protein zero; MPZ (159440) | 1q23.3 | 5,236 | NM_000530 | 6 | 1,953(777) | Charcot-Marie-Tooth disease, dominant intermediate D; CMTDID (607791) | AD | H=128 | 82% |
| Charcot-Marie-Tooth disease, type 1B; CMT1B (118200) | AD | ||||||||
| Charcot-Marie-Toothdisease, type 2I; CMT2I (607667) | AD | ||||||||
| Charcot-Marie-Tooth disease, type 2J; CMT2J (607736) | AD | ||||||||
| Dejerine-Sottas syndrome; DSS (145900) | AD | ||||||||
| Neuropathy, congenital hypomyelinating; CMT4E (605253) | AD | ||||||||
| Myosin binding protein C, cardiac; MYBPC3 (600958) | 11p11.2 | 21,296 | NM_000256 | 33 | 4,216(3,865) | Familial hypertrophic cardiomyopathy, 4;CMH4 (115197) | AD | H=168C=150 | 71% |
| Myosin heavy chain 3; MYH3 (160720) | 17p13.1 | 27,623 | NM_002470 | 40 | 6,017(5,823) | Distal arthrogryposis type 2A, Freeman-Sheldon syndrome; DA2A (193700) | AD | H=15 | 93% |
| Distal arthrogryposis type 2B, Sheldon-Hall syndrome; DA2B (601680) | AD | ||||||||
| Myosin heavy chain 6; MYH6 (160710) | 14q11.2 | 26,288 | NM_002471 | 39 | 5941(5,820) | Cardiomyopathy, dilated, 1EE; CMD1EE (613252)Cardiomyopathy, familial hypertrophic; CMH14 (613251) | AD | H=7 | |
| Myosin heavy chain 8; MYH8 (160741) | 17p13.1 | 31,626 | NM_002472 | 40 | 6,038(5,814) | Trismus-pseudocamptodactyly Syndrome; DA7 (158300)Carney complex variant; (608837) | AD | H=1 | |
| Myosin light chain 2; MYL2 (160781) | 12q24.11 | 9,779 | NM_000432 | 7 | 827(501) | Cardiomyopathy, familial hypertrophic 10; MYL2 (608758) | AD | ||
| Myosin light chain 3; MYL3 (160790) | 3p21.31 | 5,617 | NM_000258 | 7 | 877(588) | Cardiomyopathy, familial hypertrophic, 8; CMH8 (608751) | AD | H=9 C=5 | |
| Myosin light chainkinase 2; MYLK2 (606566) | 20q11.21 | 15,323 | NM_033118 | 13 | 2,793(1,791) | Cardiomyopathy, familial hypertrophic; CMH (192600) | AD | ||
| Myosin heavy chain 7, cardiac muscle, beta; MYH7 (160760) | 14q11.2 | 22,923 | NM_000257 | 40 | 6,029(5,808) | Dilated cardiomyopathy, 1S; CMD1S (160760) | AD | H=229 | 94.7% |
| Distal myopathy (Laing);MPD1 (160500) | AD | ||||||||
| Familial hypertrophic cardiomyopathy, 1; CMH1 (192600) | AD | ||||||||
| Hyaline bodymyopathy,dominant (myosin storage myopathy); 608358 | AD | ||||||||
| Myosin storage myopathy and cardiomyopathy, recessive; | AR | ||||||||
| Myostatin, growth/differentiation factor 8; GDF8; MSTN (601788) | 2q32.2 | 7,029 | NM_005259 | 3 | 2,818(1,128) | Muscle Hypertrophy (601788) | AD | H=1 | |
| Myotilin; MYOT (604103) | 5q31.2 | 19,995 | NM_006790 | 10 | 2,271(1,497) | Distal myopathy with myotilin defect; | AD | L=111(17) H=7 | 100% |
| Limb-Girdle, Muscular dystrophy, type 1A; LGMD1A (159000) | AD | ||||||||
| Myopathy myofibrillar(Myotilinopathy); MFM (609200) | AD | ||||||||
| Spheroid body myopathy; 182920 | AD | ||||||||
| Myotonic dystrophy protein kinase; DMPK (605377) | 19q13.32 | 12,840 | NM_004409 | 15 | 2,863(1,890) | Myotonic dystrophy(Steinert disease); DM (160900) | AD | CTG repeat expansion in the 3’UTR | |
| Myotubularin; MTM1 (300415) | Xq28 | 104,568 | NM_000252 | 15 | 3,434(1,812) | Myotubular myopathy 1; MTM1 (310400) | XR | L=382 (236) H=224 | 68% |
| Myotubularin-related protein 2; MTMR2 (603557) | 11q21 | 91,326 | NM_016156 | 15 | 4,593(1,932) | Charcot-Marie-Tooth disease, type 4B1;CMT4B1(601382) | AR | H=13 O=18 | |
| Nebulin; NEB (161650) | 2q23.3 | 249,147 | NM_001164507 | 182 | 26,200(25,578) | Nemaline myopathy 2;NEM2 (256030) | AR | L=172(94)H=61 | 57% |
| Neurofilament, light polypeptide 68kDa; NEFL (162280) | 8p21 | 5,660 | NM_006158 | 4 | 3,602 | Charcot-Marie-Tooth disease, type 1F; CMT1F (607734) | AD | H=30 O=19 | |
| Charcot-Marie-Toothdisease, type 2E; CMT2E(607684) | AD | ||||||||
| N-myc downstream regulated gene 1; NDRG1(605262) | 8q24 | 60,133 | NM_006096 | 16 | 3,123(1,185) | Charcot-Marie-Tooth disease, type 4D; CMT4D (601455) | AR | H=2 O=2 | |
| Non imprinted in Prader-Willi/Angelman syndrome 1; NIPA1 (608145) | 15q11.2 | 43,563 | NM_001142275 | 5 | 6,386(765) | Spastic paraplegia 6; SPG6 (600363) | AD | H=4 | |
| O-linked mannosebeta 1,2-N-acetylglucosaminyltransferase; POMGNT1 (606822) | 1p34.1 | 9,768 | NM_017739 | 22 | 2,753(1,983) | Limb-Girdle, Muscular dystrophy, type 2O; LGMD2O | AR | L=143 (58) H=29 | 87% |
| Muscle-eye-brain diseas; MEB (253280) | AR | ||||||||
| Walker-Warburg syndrome; WWS (236670) | AR | ||||||||
| Optic atrophy 1; OPA1 (605290) | 3q28-q29 | 104,667 | NM_015560 | 31 | 6,345(2,883) | Progressive external ophthalmoplegia, optic atrophy 1 with and without deafness; (125250) Optic Atrophy; OPA1 (165500) | AD | H=122 | 64% |
| Paired-like homeobox 2a; PHOX2A (602753) | 11q13.4 | 5,099 | NM_005169 | 3 | 1,716(855) | Congenital fibrosis of the extraocular muscles; CFEOM2 (602078) | AR | H=6 | |
| Patatin-like phospholipase domain containing 6; PNPLA6 (603197) | 19p13.2 | 27,616 | NM_006702 | 35 | 4,490(3,984) | Spastic paraplegia 39; SPG39 (612020) | AR | O=3 | |
| Periaxin; PRX (605725) | 19q13 | 19,600 | NM_020956 | 6 | 5,533(444) | Charcot-Marie-Tooth neuropathy Type 4F;CMT4F (145900) | AR | H=10 O=22 | 72% |
| Peripheral myelinprotein 22; PMP22 (601097) | 17p12 | 35,548 | NM_000304 | 5 | 1,828(483) | Charcot-Marie-Toothneuropathy Type 1A, demyelinating; CMT1A (118220) | AD | H=65 O=69 | 71% |
| Charcot-Marie-Toothneuropathy Type 1E; CMT1E (118300) | AD | ||||||||
| Déjerine-Sottas hypertrophic neuropathy; DSN (145900) | AD | ||||||||
| Hereditary neuropathy with liability to pressure palsies; HNPP (162500) | AD | ||||||||
| Perlecan; HSPG2 (142461 | 1p36.12 | 115,013 | NM_005529 | 97 | 14,287(13,176) | Dyssegmental dysplasia, Silverman-Handmaker type; DDSH(224410) | AD | H=32 | 80% |
| Schwartz-Jampel Syndrome; SJS1 (255800) | AD | ||||||||
| Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma; PIP5K1C (606102) | 19p13.3 | 70,264 | NM_012398 | 18 | 5,047(2,007) | lethal congenital contractural syndrome 3;LCCS3 (611369) | AR | ||
| Phosphofructokinase, muscle; PFKM (610681) | 12q13.11 | 40,532 | NM_001166686 | 25 | 3,526(2,343) | Glycogen storage disease VII; GSD VII (232800) | AR | H=17 | 94% |
| Phosphoglycerate kinase 1; PGK1 (311800) | Xq21.1 | 22,657 | NM_000291 | 11 | 2,421(1,254) | Phosphoglycerate kinase 1 deficiency; PGK1 (300653) | XR | L=4 H=19 | 89% |
| Phosphoglycerate mutase 2 (muscle); PGAM2 (612931) | 7p13 | 2,860 | NM_000290 | 3 | 2,860(762) | Glycogen storage disease X; GSD10 (261670) | AR | H=8 | |
| Phospholamban; PLN (172405) | 6q22.31 | 12,145 | NM_002667 | 2 | 1,713(159) | Cardiomyophaty, dilated, 1p; CMD1P (609909 | AD | H=5 | |
| Phosphoribosyl pyrophosphate synthetase 1; PRPS1 (311850) | Xq22.3 | 22,602 | NM_002764 | 7 | 2,155(957) | Charcot-Marie-Tooth neuropathy X-linked5 (with hearing lossand optic neuropathy);CMTX5 (311070) Deafness, X-linked 1; DFNX1 (304500) | XR | H=7 | |
| Plakophilin 2; PKP2 (602861) | 12p11.21 | 106,099 | NM_001005242 | 13 | 4,305(2,514) | Arrhythmogenic right ventricular dysplasia, familial, 9; ARVD9 (609040) | AD | L=246 (161)H=74 | 74.4% |
| Pleckstrin homology domain containing,family G (with RhoGef domain) member 5;PLEKHG5 (611101) | 1p36.31 | 53,918 | NM_198681 | 22 | 5,221(3,189) | spinal muscular atrophy, distal, autosomal recessive, 4; DSMA4 (611067) | AR | H=1 | |
| Plectin 1, intermediate filament binding protein 500kDa; PLEC (601282) | 8q24.3 | 61,593 | NM_000445 | 32 | 14,798(13,548) | Epidermolysis bullosa simplex associated with late-onset muscular dystrophy; MDEBS (226670) | AR | H=46 | 52% |
| Epidermolysis bullosasimplex, Ogna type;EBS1(131950) | AR | ||||||||
| Poly(A) binding protein, nuclear 1; PABPN1 (602279) | 14q11.2 | 5,971 | NM_004643 | 7 | 3,075(921) | Oculopharyngeal muscular dystrophy; OPMD (164300) | AD | H=14 | 7% |
| AR | |||||||||
| Polymerase (DNAdirected), gamma 2;POLG2 (604983) | 17q23.3 | 19,281 | NM_007215 | 8 | 1,592(1,458) | Progressive external ophthalmoplegia withmitochondrial DNA deletions type 4; PEOA4 (610131) | AD | H=1 | |
| Polymerase (DNA directed), gamma; POLG (174763) | 15q26.1 | 18,490 | NM_002693 | 23 | 4,447(3,720) | Mitochondrial Neurogastrointestinal Encephalopathy Syndrome; MNGIE (603041) | AR | H=76 | 93% |
| Progressive External Ophthalmoplegia with mitochondrial DNA deletions; PEOB (258450) | AR | ||||||||
| Progressive external ophthalmoplegia with mitochondrial DNA deletions type 1; PEOA1 (157640) | AD | ||||||||
| Sensory Ataxic Neuropathy, Dysarthriaand Ophthalmoparesis;SANDO (607459) | AR | ||||||||
| Polyphosphoinositide phosphatase activity;FIG4 (609390) | 6q21 | 134,211 | NM_014845 | 23 | 3,105(2,724) | Charcot-Marie-Tooth neuropathy Type 4J;CMT4J (611228) | AR | ||
| Potassium inwardly-rectifying channel J2; KCNJ2 (600681) | 17q24.3 | 10,506 | NM_000891 | 2 | 5,384(1,284) | Andersen Cardiodysrhythmic periodic paralysis; LQT7 (170390) | AD | O=39 | 92% |
| Potassium voltage-gated channel, Isk-related family, member 1; KCNE1 (176261) | 21q22.12 | 64,625 | NM_000219 | 1 | 3,320(390) | Long QT Syndrome 5;LQT5 (176261) | AD | O=9 | |
| Potassium voltage-gated channel, Isk-related family, member 3; KCNE3 (604433) | 11q13.4 | 12,713 | NM_005472 | 3 | 3,068(312) | Brugada syndrome 6 (613119) | AD | ||
| Potassium voltage-gated channel, KQT-likesubfamily, member 1;KCNQ1 (607542) | 11p15.5-p15.4 | 404,119 | NM_000218 | 16 | 3,245(1,650) | Long QT Syndrome 1; LQT1 (192500) | AD | O=90 | 91% |
| Jervell and Lange-Nielsen syndrome 1; JLNS1; (220400) | AD | ||||||||
| Potassium voltage-gated channel, shaker-related subfamily, member 1; KCNA1 (176260) | 12p13 | 8,348 | NM_000217 | 2 | 7,981(1,488) | Episodic ataxia, type 1; EA1 (160120) | AD | ||
| Potassium voltage-gated channel, Shaw-related subfamily, member 3; KCNC3 (176264) | 19q13.33 | 13,870 | NM_004977 | 5 | 3,176(2,274) | Spinocerebellar Ataxia 13; SCA13 (605259) | AD | H=2 | |
| Presenilin 2; PSEN2 (600759) | 1q42.13 | 25,532 | NM_000447 | 13 | 2,298(1,344) | Cardiomyopathy, dilated,1V, included; CMD1V (600759) | AD | H=20 | 95% |
| Presenilin 1; PSEN1 (104311) | 14q24.2 | 87,256 | NM_007318 | 12 | 6,067(1,404) | Cardiomyopathy, dilated,1U, included; CMD1U (104311) | AD | L=1 | |
| Protein kinase C, gamma; PRKCG (176980) | 19q13.42 | 25,435 | NM_002739 | 18 | 3,128(2,094) | Spinocerebellar Ataxia14; SCA14 (605361) | AD | H=23 | 0% |
| Protein kinase, AMP-activated, gamma 2 non-catalytic subunit; PRKAG2 (602743) | 7q36.1 | 321,114 | NM_016203 | 16 | 3,405(987) | Cardiomyopathy, familial hypertrophic, 6; CMH6 (600858) | AD | H=14 | |
| Protein phosphatase2 regulatory subunit B, beta isoform; PPP2R2B (604325) | 5q32 | 491,964 | NM_181677 | 11 | 2,001(1,299) | Spinocerebellar Ataxia 12; SCA12 (604326) | AD | CAG repeat expansion in coding seq | |
| Protein-O-mannosyltransferase 1; POMT1 (607423) | 9q34.13 | 20,904 | NM_007171 | 20 | 3,145(1,827) | Limb-Girdle, Musculardystrophy, type 2K; LGMD2K (609308) | AR | L=324(115)H=28 | 78% |
| Walker-Warburg syndrome; WWS (236670) | AR | ||||||||
| Protein-O-mannosyltransferase 2; POMT2 (607439) | 14q24.3 | 45,927 | NM_013382 | 21 | 4,872(2,253) | Limb-Girdle, Muscular dystrophy, type 2N; LGMD2N | AR | L=118(68) H=5 | |
| Walker-Warburg syndrome; WWS (236670) | AR | ||||||||
| Proteolipid protein 1;PLP1 (300401) | Xq22.2 | 16,107 | NM_001128834 | 8 | 3,133(729) | Pelizaeus-Merzbacherdisease; PMD (312080) | XR | H=128 | 77% |
| Spastic paraplegia 2; SPG2 (312920) | XR | ||||||||
| Rapsyn; RAPSN (601592) | 11p11.2 | 11,416 | NM_005055 | 8 | 1,664(1,062) | Myasthenic syndrome,congenital; CMS1D (608931) | AR | H=28 | 78% |
| Receptor accessory protein 1; REEP1 (609139) | 2p11.2 | 124,085 | NM_001164730 | 7 | 3,735(606) | Spastic paraplegia 31;SPG31 (610250) | AD | H=6 | |
| Ribonucleotide reductase M2 B (TP53 inducible); RRM2B (604712) | 8q22.3 | 34,.618 | NM_015713 | 9 | 4,932(1,056) | Mitochondrial DNAdepletion myopathy; 612075 | AR | H=7 | |
| Mitochondrial Neurogastrointestinal Encephalopathy Syndrome; MNGIE (603041) | AR | ||||||||
| Ryanodine receptor 1; RYR1 (180901) | 19q13.2 | 153,864 | NM_000540 | 106 | 15,390(15,102) | Malignant HyperthermiaSusceptibility to 1; MHS1 (145600) | AD | L=653 (261)H=282 | 97.7% |
| Malignant HyperthermiaSusceptibility to 1; MHS1 (145600) | AR | ||||||||
| Central Core Disease of Muscle; CCD (117000) | AD | ||||||||
| Central Core Disease of Muscle; CCD (117000) | AR | ||||||||
| Multiminicore diseasewith external ophtalmopegia; 255320 | AR | ||||||||
| Ryanodine receptor 2; RYR2 (180902) | 1q43 | 791,587 | NM_001035 | 105 | 16,365(14,904) | Arrhythmogenic rightventricular dysplasia, familial, 2; ARVD2 (600996) | AD | H=130 | 95% |
| Ventricular tachycardia, catecholaminergic polymorphic, 1; CPVT1 (604772) | AD | ||||||||
| Sarcoglycan, alpha;SGCA (600119) | 17q21.33 | 9,927 | NM_000023 | 10 | 1,432(1,164) | Limb-Girdle, Muscular dystrophy, type 2D; LGMD2D (608099) | AR | L=596 (109)H=50 | 89.7% |
| Sarcoglycan, beta;SGCB (600900) | 4q12 | 17,625 | NM_000232 | 6 | 4,277(957) | Muscular dystrophy, limb-girdle, type 2E; LGMD2E (604286) | AR | L=345 (79)H=30 | 68.4% |
| Sarcoglycan, delta;SGCD (601411) | 5q33.3 | 441,030 | NM_000337 | 9 | 9,787(873) | Dilated cardiomyopathy, 1L; CMD1L (606685) | AD | L=76 (37) H=9 | 77% |
| Limb-Girdle, Muscular dystrophy, type 2F; LGMD2F (601287) | AR | ||||||||
| Sarcoglycan, gamma;SGCG (608896) | 13q12.12 | 144,245 | NM_000231 | 8 | 1,655(876) | Limb-Girdle, Musculardystrophy, type 2C; LGMD2C (253700) | AR | L=473(95)H=25 | 49.1% |
| Selenoprotein N, 1; SEPN1 (606210) | 1p36.11 | 18,047 | NM_020451 | 7 | 4,332(1,773) | Desmin-related myopathywith Mallory bodies; RSMD1 (602771) | AD | L=198(61)H=20 | 76% |
| Multiminicore disease,classical form; RSMD1 (602771) | AR | ||||||||
| Myopathy, congenital, with fiber-type disproportion; CFTD (255310) | AR | ||||||||
| Rigid spine syndrome; RSMD1 (602771) | AR | ||||||||
| Senataxin; SETX (608465) | 9q34.13 | 93,545 | NM_015046 | 26 | 11,015(8,034) | Neuropathy, distal hereditary motor, with pyramidal features; Amyotrophic lateral sclerosis 4, juvenile, ALS4 (602433) | AD | H=27 O=3 | 77% |
| Spinocerebellar ataxia, autosomal recessive 1; SCAR1 (606002) | AR | ||||||||
| Septin 9; SEPT9 (604061) | 17q25.2-q25.3 | 219,185 | NM_001113491 | 12 | 3,823(1,761) | Hereditary neuralgicamyotrophy (familial brachial plexus neuropathy); HNA (162100) | AD | H=3 O=3 | |
| Serine palmitoyltransferase long-chain base subunit 1; SPTLC1 (605712) | 9q22.31 | 84,264 | NM_006415 | 15 | 2,780(1,422) | Neuropathy, hereditary sensory and autonomic, type 1; HSN1 (162400) | AD | H=4 O=4 | |
| SET binding factor 2;SBF2 (607697) | 11p15.3 | 515,541 | NM_030962 | 40 | 7,439(5,550) | Charcot-marie-tooth disease, type 4b2;CMT4B2 (604563) | AR | H=5 O=5 | |
| SH3 domain and tetratricopeptide repeat domain 2; SH3TC2 (608206) | 5q32 | 81,023 | NM_024577 | 17 | 26,578(3,867) | Charcot-Marie-Tooth neuropathy Type 4C;CMT4C (601596) | AR | H=19 | 84% |
| SIL1 homolog, endoplasmic reticulum chaperone; SIL1 (608005) | 5q31.2 | 251,654 | NM_022464 | 10 | 1,898(1,386) | Marinesco-Sjogren Syndrome; MSS (248800) | AR | H=13 | 61% |
| Skeletal muscle receptor tyrosine kinase; MUSK (601296) | 9q31.3 | 132.228 | NM_005592 | 14 | 2,754(2,610) | Congenital myasthenicsyndrome with MuSKdeficiency; CMS1B (608931) | AR | H=2 | |
| Slow troponin C;TNNC1 (191040) | 3p21.1 | 2,950 | NM_003280 | 6 | 695(486) | Cardiomyopathy, dilated,1z; CMD1Z (611879) | AD | H=7 | |
| Slow troponin T;TNNT1 (191041) | 19q13.4 | 16.445 | NM_003283 | 14 | 1,047(837) | Nemaline Myopathy 5, Amish type; NEM5 (605355) | AR | L=25 (12) H=1 | 60% |
| Sodium channel, voltage-gated, type IV, alpha; SCN4A (603967) | 17q23.3 | 34,365 | NM_000334 | 24 | 7,805(5,511) | Hyperkalemic periodic paralysis; HYPP (170500) Myotonia, potassium-aggravated (9608390) Hypokalemic periodic paralysis, type 2; HOKPP2 (613345) Myasthenic syndrome, congenital, associated with episodic apnea (254210) Paramyotonia congenita of Von Eulenburg; PMC (168300) |
AD | L=613(101) | 99.1% |
| Solute carrier family12, (potassium/chloride transporters) member 6; SLC12A6 (604878) | 15q14 | 108,068 | NM_001042495 | 26 | 7,362(3,276) | Agenesis of the corpus callosum with peripheral neuropathy; (Charlevoix disease); ACCPN (218000) | AR | H=8 O=5 | |
| Solute carrier family 22 member 5; SLC22A5 (603377) | 5q31.1 | 25,902 | NM_003060 | 10 | 3,234(1,674) | Carnitine deficiency, systemic primary; CDSP (212140) | AR | H=68 | |
| Solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4; SLC25A4 (103220) | 4q35.1 | 7,121 | NM_001151 | 4 | 4,419(897) | Progressive externalophthalmoplegia withmitochondrial DNA deletions type 2; PEOA2 (609283) | AD | H=6 O=7 | |
| Spastic ataxia of Charlevoix-Saguenay (sacsin); SACS (604490) | 13q12.12 | 104,877 | NM_014363 | 10 | 15,639(13,740) | Spastic ataxia of Charlevoix-Saguenay; ARSACS (270550) | AR | H=21 | 48% |
| Spatacsin; SPG11 (610844) | 15q21.1 | 100,982 | NM_025137 | 40 | 7,787(7,332) | Spastic paraplegia 11;SPG11 (604360) | AR | H=10 | |
| Spastic paraplegia 20 (spartin); SPG20 (607111) | 13q13.3 | 44,870 | NM_015087 | 9 | 5,013(2,001) | Spastic paraplegia 20 (Troyer); SPG20 (275900) | AR | H=1 O=4 | |
| Spastica paraplegia 21 Acidic cluster protein, 33-kD; SPG21 (608181) | 15q22.31 | 26,888 | NM_016630 | 9 | 1,797(927) | Mast syndrome (Spastic paraplegia 21); SPG21 (248900) | AR | H=1 | |
| Spastic paraplegia 7 Paraplegin;SPG7 (602783) | 16q24.3 | 49,369 | NM_003119 | 17 | 3,081(2,388) | Spastic paraplegia 7;SPG7 (607259) | AR | H=14 | |
| Spastic paraplegia 4 Spastin; SPG4 (604277) | 2p22.3 | 94,026 | NM_014946 | 17 | 5,212(1,851) | Spastic paraplegia 4;SPG4 (182601) | AD | H=237 | 58% |
| Synaptic nuclear envelope protein 1; SYNE1 (608441) | 6q25.1-q25.2 | 515,712 | NM_182961 | 146 | 27,744(26,394) | Arthrogryposis multiplexcongenita with nesprin-1defect | AR | L=72 (28)H=5 | 80% |
| Autosomal recessive spinocerebellar ataxia, 8; SCAR8 (610743) | AR | ||||||||
| Emery-Dreifuss with nesprin-1 defect; EDMD4 (612998) | AD | ||||||||
| Synaptic nuclear envelope protein 2; SYNE2 (608442) | 14q23.2 | 373,483 | NM_182914 | 116 | 21,875(20,724) | Emery-Dreifuss with nesprin-2 defect; EDMD5 (612999) | AD | L=12 (4) H=1 | 7 |
| Spectrin, beta, non-erythrocytic 2; SPTBN2 (604985) | 11q13.2 | 36,150 | NM_006946 | 37 | 7,866(7,173) | Spinocerebellar Ataxia 5;SCA5 (600224) | AD | H=3 | |
| Strumpellin; KIAA0196 (610657) | 8q24.13 | 67,557 | NM_014846 | 29 | 4,163(3,480) | Spastic paraplegia 8; SPG8 (603563) | AD | H=3 | |
| Succinate-CoA ligase, ADP-forming, beta subunit; SUCLA2 (603921) | 13q14.2 | 58,671 | NM_003850 | 11 | 2,163(1,392) | Mitochondrial DNA depletion myopathy, encephalomyopathic form with methylmalonic aciduria; (612073) | AR | H=4 O=4 | |
| Superoxide dismutase 1; SOD1 (147450) | 21q22.11 | 9,307 | NM_000454 | 5 | 963(465) | Amyotrophic lateral sclerosis 1; ALS1 (105400) | AD | H=138 | 93% |
| Tafazzin; TAZ (300394) | Xq28 | 10,185 | NM_000116 | 11 | 1,901(879) | Barth syndrome; BTHS (302060) | XR | H=41 | 70% |
| Cardiomyopathy, X-linked dilated; CMD3A (300069) | XR | ||||||||
| Endocardial fibroelastosis-2; G4.5 (300394) | XR | ||||||||
| Noncompaction of left ventricular myocardium, isolated; INVM (300183) | XR | ||||||||
| TATA box binding protein; TBP (600075) | 6q27 | 18,537 | NM_003194 | 8 | 1,903(1,020) | Spinocerebellar Ataxia 17; SCA17 (607136) | AD | H=5 | |
| Tau tubulin kinase 2;TTBK2 (611695) | 15q15.2 | 176,466 | NM_173500 | 15 | 5,621(3,735) | Spinocerebellar Ataxia11; SCA11 (604432) | AD | ||
| Thymidine kinase mitochondrial; TK2 (188250) | 16q21 | 42,409 | NM_004614 | 10 | 5,113(924) | Mitochondrial DNAdepletion myopathy;609560 | AR | H=18 | 77% |
| Titin; TTN (188840) | 2q31.2 | 281,431 | NM_133378 | 312 | 101,516(100,272) | Autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement (Edstrom myopathy); HMERF (603689) | AD | L=60 (35) H=16 | 62% |
| Congenital myopathywith fatal cardiomyopathy; EOMFC (617105) | AR | ||||||||
| Dilated cardiomyopathy,1G; CMD1G (604145) | AD | ||||||||
| Familial hypertrophic cardiomyopathy, 9; CMH9 (188840) | AD | ||||||||
| Limb-Girdle, Musculardystrophy, type 2J; LGMD2J (608807) | AR | ||||||||
| Tardive tibial musculardystrophy (Udd myopathy); TMD (600334) | AD | ||||||||
| Titin-cap (Telethonin);TCAP (604488) | 17q12 | 1,208 | NM_003673 | 2 | 962(504) | Dilated cardiomyopathy, 1N; CMD1N (607487) | AD | L=53 (28) H=8 | 75% |
| Limb-Girdle, Musculardystrophy, type 2G; LGMD2G (601954) | AR | ||||||||
| Tocopherol (alpha) transfer protein; TTPA (600415) | 8q12.3 | 26,565 | NM_000370 | 5 | 2,630(837) | Ataxia with isolated vitamin E deficiency; TTPA (277460) | AR | H=19 | 68% |
| Torsin family 1,member A; TOR1A (605204) | 9q34.11 | 11,220 | NM_000113 | 5 | 2,105(999) | Torsion dystonia, early onset; EOTD, DYT1 (128100) | AD | H=4 | |
| Transforming growthfactor, beta 3; TGFB3 (190230) | 14q24.3 | 23,651 | NM_003239 | 7 | 3,183(1,239) | Arrhythmogenic right ventricular dysplasia; TGFB3 (107970) | AD | L=23H=2 | 78% |
| Transmembrane protein 43; TMEM43 (612048) | 3p25.1 | 18,741 | NM_024334 | 12 | 3,342(1,203) | Arrhythmogenic rightventricular dysplasia, familial, 5;ARVD5 (604400) | AD | H=1 | |
| Transthyretin; TTR (176300)) | 18q12.1 | 7,255 | NM_000371 | 4 | 926(444) | Carpal Tunnel Syndrome; CTS1 (115430) | AD | H=101 O=115 | 99% |
| Dysthyretinemic euthyroidal hyperthyroxinemia; 145680 | AD | ||||||||
| Familiar hereditary amyloidoses; FAP (105210) | AD | ||||||||
| Tripartite motif-containing 32;TRIM32 (602290) | 9q33.1 | 13,999 | NM_012210 | 2 | 3,719(1,962) | Limb-Girdle, Muscular dystrophy, type 2H; LGMD2H (254110) | AR | L=27 (11) H=2 | 73% |
| Bardet-Biedl syndrome; BBS (209900) | AR | ||||||||
| Tropomyosin 1 (alpha); TPM1 (191010) | 15q22.2 | 29,274 | NM_001018020 | 9 | 1,786(855) | Cardiomyopathy, dilated, 1Y; CMD1Y (611878)Familial hypertrophic cardiomyopathy, 3; CMH3 (115196) | AD | H=13 O=13 | 100% |
| Tropomyosin 2 (beta); TPM2 (190990) | 9p13.3 | 7,130 | NM_003289 | 9 | 1,326(855) | Cap disease; NEM4 (609285) | AD | L=39 (17) H=3 | 62% |
| Distal arthrogryposistype 1; DA1 (108120) | AD | ||||||||
| Distal arthrogryposis type 2B, Sheldon-Hall syndrome; DA2B (601680) | AD | ||||||||
| Nemaline myopathy; NEM4 (609285) | AD | ||||||||
| Tropomyosin 3; TPM3 (191030) | 1q21.3 | 30,320 | NM_152263 | 10 | 7,096(747) | Myopathy congenital,with fiber-type disproportion; CFTD (255310) | AR | L=52 (16) H=5 | 84% |
| Nemaline myopathy;NEM1 (609284) | AD | ||||||||
| Troponin I fast-twitch skeletal muscle isoform; TNNI2 (191043) | 11p15.5 | 2,678 | NM_003282 | 7 | 731(549) | Distal arthrogryposis type 2B (Sheldon-Hall syndrome); DA2B (601680) | AD | L=26 (16) H=4 | 53% |
| Troponin I, cardiac muscle isoform; TNNI3 (191044) | 19q13.42 | 5,964 | NM_000363 | 7 | 839(633) | Cardiomyopathy, familial hypertrophic-CMH7; CMH7 (191044) | AD | H=34 O=35 | 87% |
| Cardiomyopathy, familial restrictive -RCM1; RCM1(115210)Cardiomyopathy, dilated, 2A; CMD2A (611880) | AD | ||||||||
| Troponin T3, fast skeletal; TNNT3 (600692) | 11p15.5 | 19,137 | NM_006757 | 16 | 1,202(777) | Distal arthrogryposis type 2B (Sheldon-Hall syndrome); DA2B (601680) | AD | L=13 (8) H=1 | |
| Troponin T2, cardiac; TNNT2 (191045) | 1q32.1 | 18,663 | NM_000364 | 14 | 1,152(888) | Cardiomyopathy, familial hypertrophic, 2; CMH2 (115195)Cardiomyopathy, dilated, 1D; CMD1D (601494) | AD | H=53 O=31 | 91% |
| Tyrosyl-DNA phosphodiesterase 1;TDP1 (607198) | 14q32.11 | 88,861 | NM_018319 | 17 | 3,745(1,827) | Spinocerebellar Ataxiawith axonal neuropathy; SCAN1 (607250) | AR | H=2 | |
| Tyrosyl-tRNA synthetases; YARS (603623) | 1p35.1 | 42,794 | NM_003680 | 13 | 3,117(1,587) | Charcot-Marie-Toothneuropathy, dominantintermediate C; CMTDIC (608323) | AD | H=3 | |
| UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase; GNE (603824) | 9p13.3 | 62,601 | NM_001128227 | 12 | 5,283(2,262) | Inclusion body myopathy 2; IBM2 (600737) Nonaka Myopathy; NM (605820) | AR | H=60 | |
| Vacuolar H+-ATPasehomolog; VMA21 (310440) | Xq28 | 12,179 | NM_001017980 | 3 | 4,735(306) | Myopathy with excessive autophagia; MEAX (310440) | XR | L=28 (7)H=6 | 50% |
| V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian);ERBB3 (190151) | 12q13.2 | 23,236 | NM_001982 | 28 | 5,510(4,029) | lethal congenital contracture syndrome 2; LCCS2 (607598) | AR | ||
| Vesicle-associatedmembrane protein-associated protein B and C; VAPB (605704) | 20q13.32 | 57,717 | NM_004738 | 6 | 3,673(732) | Amyotrophic lateral sclerosis; ALS8 (608627) | AD | H=1 | |
| Vinculin; VCL (193065) | 10q22.2 | 122,041 | NM_003373 | 21 | 5,280(3,201) | Cardiomyopathy, familialhypertrophic, 15; CMH15 (613255) | AD | H=1 | |
| Voltage-gated potassium channel,subfamily H, member2; KCNH2 (152427) | 7q36.2 | 32,965 | NM_000238 | 15 | 3,896(3,480) | Long QT Syndrome 2; LQT2 (152427) | AD | O=98 | 77% |
| Voltage-gated sodiumchannel type V alpha;SCN5A (600163) | 3p22.2 | 101,610 | NM_198056 | 28 | 8,503(6,051) | Brugada syndrome 1 (601144) Cardiomyopathy, dilated, 1E; CMD1E (601154) Long QT syndrome 3 (603830) Progressive familial heart block, TYPE IA (113900) |
AD | O=20 | 80% |
| Zinc finger protein 9; CNBP/ ZNF9 (116955) | 3q21.3 | 16,152 | NM_001127192 | 5 | 3,383(534) | Myotonic dystrophy; DM2 (602668) | AD | CCTG repeat expansion in intron 1 | |
| Zinc finger, FYVE domain containing 26,spastizin; ZFYVE26 (612012) | 14q24.1 | 70,070 | NM_015346 | 42 | 9,675(7,620) | Spastic paraplegia15 (Kjellin syndrome);SPG15 (270700) | AR | O=4 | |
| Zinc finger, FYVE domain containing 27;protrudin, ZFYVE27 (610243) | 10q24.2 | 23.786 | NM_144588 | 13 | 3,048(1,236) | Spastic paraplegia 33;SPG33 (610244) | AD | H=1 | |
Legenda
Abbreviations
- Gene; symbol (OMIM)
indicates the official name of the gene, the symbol and the number as in the Online Mendelian Inheritance in Man database (3).
- Chrom
indicates the chromosomal position assigned by the GRCh37/hg19 release at http://genome.ucsc.edu/cgi-bin/hgGateway.
- Gene size
indicates the total size in base pairs of the most relevant transcript of the gene (for example, for the dystrophin gene we considered the skeletal muscle promotor and the 427kDa product).
- RefSeq (mRNA)
is the official number of the most relevant gene product.
- Exon no.
is the number of exons.
- mRNA (ORF)
is the length of the mRNA and within brackets the length of the open reading frame also counting the first stop codon.
- Disease symbol (OMIM)
indicates the official name of the associated disorders, the symbol and the number as in the Online Mendelian Inheritance in Man (3).
- Inh
indicates the disease inheritance AR = autosomal recessive; AD = autosomal dominat, XR = X-linked recessive, ecc.
- Variants (unique)
is the number of total variants (unique) reported in the Leiden database (L) Human Genome Mutation Database (H) or other specifica databases (O).
- subst%
indicates the percentage of substitutions of mutated alleles found in patients: this may be important to address the strategy for mutation scanning.
Databases
- 1.Alzheimer Disease & Frontotemporal Dementia Mutation Database (http://www.molgen.ua.ac.be/ADMutations/)
- 2.ARVD/C Genetic Variants Database (http://www.arvcdatabase.info/)
- 3.The Human Genome Mutation Database (www.hgmd.org)
- 4.Cardiogenomics: Sarcomere Gene Mutation Screening (http://cardiogenomics.med.harvard.edu/project-detail?project_id=230)
- 5.FHC Mutation Database (http://www.angis.org.au/Databases/Heart/heartbreak.html)
- 6.The Gene Connection for the Heart (http://www.fsm.it/cardmoc/)
- 7.Database on Transthyretin Mutations (http://www.ibmc.up.pt/mjsaraiva/ttrmut.html)
- 8.The Mutation Database of Inherited Peripheral Neuropathies (IPNMDB) (http://www.molgen.ua.ac.be/CMTMutations/)
- 9.Leiden Muscular Dystrophy pages (http://www.dmd.nl/)
- 10.MOONEY Laboratory MutDB (http://mutdb.org/)
- 11.Online Mendelian Inheritance in Man(OMIM) (http://www.ncbi.nlm.nih.gov/omim/)
- 12.ALSOD - The Amyotrophic Lateral Sclerosis Online genetic Database (http://alsod.iop.kcl.ac.uk/Als/Index.aspx) [DOI] [PubMed]
- 13.The Androgen Receptor Gene Mutations Database WWW Server (http://androgendb.mcgill.ca/)
- 14.Mutation Database of the Protein Kinase C (http://www.retina-international.org/sci-news/prkcgmut.htm)
- 15.The DMD mutations database UMD-DMD France (http://www.umd.be/DMD/W_DMD/index.html)
- 16.Zhejiang University Center for Genetic and Genomic Medicine (http://www.china-hvp.org/LOVD/?select_db=CAV3)
- 17.The Long QT syndrome Database (http://www.ssi.dk/graphics/html/lqtsdb/lqtsdb.htm)