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Results for the Protein: P02545
125962

LMNA_HUMAN RecName: Full=Prelamin-A/C; Contains: RecName: Full=Lamin-A/C; AltName: Full=70 kDa lamin; AltName: Full=Renal carcinoma antigen NY-REN-32; Flags: Precursor

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, DILATED 1A (CMD1A)
  CARDIOMYOPATHY, DILATED, 1A
  CARDIOMYOPATHY, DILATED, 1A, INCLUDED
  CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTRIPIC HYPOGONADISM
  CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM (CMDHH)
  CHARCOT-MARIE-TOOTH DISEASE 2B1 (CMT2B1)
  CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1
  EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT (EDMD2)
  EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE (EDMD3)
  EMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE
  EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
  HUTCHINSON-GILFORD PROGERIA SYNDROME
  HUTCHINSON-GILFORD PROGERIA SYNDROME (HGPS)
  HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL
  HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET
  HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET, INCLUDED
  LIMB-GIRDLE MUSCULAR DYSTROPHY 1B (LGMD1B)
  LIPODYSTROPHY, FA
  LIPODYSTROPHY, FAMILIAL PARTIAL, 2 (FPLD2)
  LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
  LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, INCLUDED
  MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
  MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY (MADA)
  MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL
  MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUD
  MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUDED;;
  MUSCULA
  MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED (MDCL)
  MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
  MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED, INCLUDED;;
  MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B
  RESTRICTIVE DERMOPATHY, LETHAL, INCLUDED
  VARIANT OF UNKNOWN SIGNIFICANCE
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Swiss-Prot Protein: P02545
Identical to: NP_733821
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_017656Diseasep.ALA57PROCardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH)
Swiss-ProtVAR_070179Diseasep.ALA318THRCardiomyopathy, dilated 1A (CMD1A)
Swiss-ProtVAR_039753Diseasep.ALA43THREmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_034709Diseasep.ALA529VALMandibuloacral dysplasia with type A lipodystrophy (MADA)
Swiss-ProtVAR_017661Diseasep.ARG298CYSCharcot-Marie-Tooth disease 2B1 (CMT2B1)
Swiss-ProtVAR_039778Diseasep.ARG399CYSLipodystrophy, familial partial, 2 (FPLD2)
Swiss-ProtVAR_039779Diseasep.ARG435CYSCardiomyopathy, dilated 1A (CMD1A)
Swiss-ProtVAR_070181Diseasep.ARG439CYSLipodystrophy, familial partial, 2 (FPLD2)
Swiss-ProtVAR_017662Diseasep.ARG471CYSHutchinson-Gilford progeria syndrome (HGPS)
Swiss-ProtVAR_017663Diseasep.ARG527CYSHutchinson-Gilford progeria syndrome (HGPS)
Swiss-ProtVAR_039786Polymorphismp.ARG541CYSN/A
Swiss-ProtVAR_039792Polymorphismp.ARG644CYSN/A
Swiss-ProtVAR_039763Diseasep.ARG190GLNEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_067697Diseasep.ARG225GLNEmery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3)
Swiss-ProtVAR_009980Diseasep.ARG249GLNEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_009983Diseasep.ARG336GLNEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_009984Diseasep.ARG343GLNEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_009992Diseasep.ARG482GLNLipodystrophy, familial partial, 2 (FPLD2)
Swiss-ProtVAR_039746Diseasep.ARG25GLYEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_034706Diseasep.ARG60GLYLipodystrophy, familial partial, 2 (FPLD2)
Swiss-ProtVAR_039755Diseasep.ARG62GLYLipodystrophy, familial partial, 2 (FPLD2)
Swiss-ProtVAR_016205Diseasep.ARG377HISLimb-girdle muscular dystrophy 1B (LGMD1B)
Swiss-ProtVAR_070180Diseasep.ARG388HISCardiomyopathy, dilated 1A (CMD1A)
Swiss-ProtVAR_070182Diseasep.ARG471HISCardiomyopathy, dilated 1A (CMD1A)
Swiss-ProtVAR_018727Diseasep.ARG527HISMandibuloacral dysplasia with type A lipodystrophy (MADA)
Swiss-ProtVAR_039787Diseasep.ARG541HISEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_009998Diseasep.ARG582HISLipodystrophy, familial partial, 2 (FPLD2)
Swiss-ProtVAR_039791Diseasep.ARG624HISEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_016913Diseasep.ARG133LEULipodystrophy, familial partial, 2 (FPLD2)
Swiss-ProtVAR_039776Diseasep.ARG349LEUCardiomyopathy, dilated 1A (CMD1A)
Swiss-ProtVAR_039777Diseasep.ARG377LEULimb-girdle muscular dystrophy 1B (LGMD1B)
Swiss-ProtVAR_009991Diseasep.ARG482LEULipodystrophy, familial partial, 2 (FPLD2)
Swiss-ProtVAR_039758Diseasep.ARG89LEUCardiomyopathy, dilated 1A (CMD1A)
Swiss-ProtVAR_009987Diseasep.ARG386LYSEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_070174Diseasep.ARG101PROCardiomyopathy, dilated 1A (CMD1A)
Swiss-ProtVAR_017657Diseasep.ARG133PROEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_070176Diseasep.ARG166PROCardiomyopathy, dilated 1A (CMD1A)
Swiss-ProtVAR_064962Diseasep.ARG189PROEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_039747Diseasep.ARG25PROEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_063592Diseasep.ARG453PROMuscular dystrophy congenital LMNA-related (MDCL)
Swiss-ProtVAR_063593Diseasep.ARG455PROMuscular dystrophy congenital LMNA-related (MDCL)
Swiss-ProtVAR_009972Diseasep.ARG50PROMuscular dystrophy congenital LMNA-related (MDCL)
Swiss-ProtVAR_009995Diseasep.ARG527PROLipodystrophy, familial partial, 2 (FPLD2)
Swiss-ProtVAR_064975Diseasep.ARG541PROEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_039754Diseasep.ARG50SEREmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_039788Diseasep.ARG541SEREmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_039764Diseasep.ARG190TRPCardiomyopathy, dilated 1A (CMD1A)
Swiss-ProtVAR_063589Diseasep.ARG249TRPMuscular dystrophy congenital LMNA-related (MDCL)
Swiss-ProtVAR_039748Diseasep.ARG28TRPLipodystrophy, familial partial, 2 (FPLD2)
Swiss-ProtVAR_009988Diseasep.ARG453TRPEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_009993Diseasep.ARG482TRPLipodystrophy, familial partial, 2 (FPLD2)
Swiss-ProtVAR_063594Diseasep.ASN456ASPMuscular dystrophy congenital LMNA-related (MDCL)
Swiss-ProtVAR_039781Diseasep.ASN456ILEEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_009977Diseasep.ASN195LYSCardiomyopathy, dilated 1A (CMD1A)
Swiss-ProtVAR_039782Diseasep.ASN456LYSEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_063588Diseasep.ASN39SERMuscular dystrophy congenital LMNA-related (MDCL)
Swiss-ProtVAR_039770Diseasep.ASP230ASNLipodystrophy, familial partial, 2 (FPLD2)
Swiss-ProtVAR_039765Diseasep.ASP192GLYCardiomyopathy, dilated 1A (CMD1A)
Swiss-ProtVAR_070178Polymorphismp.ASP300GLYN/A
Swiss-ProtVAR_064973Diseasep.ASP461TYREmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_039780Diseasep.ASP446VALEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_009982Diseasep.GLN294PROEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_039750Polymorphismp.GLU33ASPN/A
Swiss-ProtVAR_009978Diseasep.GLU203GLYCardiomyopathy, dilated 1A (CMD1A)
Swiss-ProtVAR_039751Diseasep.GLU33GLYEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_039757Diseasep.GLU65GLYEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_070175Diseasep.GLU138LYSHutchinson-Gilford progeria syndrome (HGPS)
Swiss-ProtVAR_017659Diseasep.GLU145LYSHutchinson-Gilford progeria syndrome (HGPS)
Swiss-ProtVAR_017660Diseasep.GLU161LYSCardiomyopathy, dilated 1A (CMD1A)
Swiss-ProtVAR_039767Diseasep.GLU203LYSCardiomyopathy, dilated 1A (CMD1A)
Swiss-ProtVAR_039775Diseasep.GLU317LYSCardiomyopathy, dilated 1A (CMD1A)
Swiss-ProtVAR_009985Diseasep.GLU358LYSMuscular dystrophy congenital LMNA-related (MDCL)
Swiss-ProtVAR_064970Diseasep.GLU361LYSEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_039790Polymorphismp.GLU578VALN/A
Swiss-ProtVAR_067258Diseasep.GLY523ARGCardiomyopathy, dilated 1A (CMD1A)
Swiss-ProtVAR_064971Diseasep.GLY449ASPEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_009989Diseasep.GLY465ASPLipodystrophy, familial partial, 2 (FPLD2)
Swiss-ProtVAR_039771Diseasep.GLY232GLUEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_064976Diseasep.GLY602SEREmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_017664Diseasep.GLY608SERHutchinson-Gilford progeria syndrome (HGPS)
Swiss-ProtVAR_039769Diseasep.HIS222PROEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_009979Diseasep.HIS222TYREmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_039756Diseasep.ILE63ASNEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_070177Diseasep.ILE210SERCardiomyopathy, dilated 1A (CMD1A)
Swiss-ProtVAR_009974Diseasep.ILE63SEREmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_009990Diseasep.ILE469THREmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_017658Diseasep.LEU140ARGHutchinson-Gilford progeria syndrome (HGPS)
Swiss-ProtVAR_064055Diseasep.LEU59ARGCardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH)
dbSNPrs28933090 Diseasep.LEU85ARGCardiomyopathy, dilated 1A (CMD1A)
Swiss-ProtVAR_067257Diseasep.LEU92PHECardiomyopathy, dilated 1A (CMD1A)
Swiss-ProtVAR_039760Diseasep.LEU140PROEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_039768Diseasep.LEU215PROCardiomyopathy, dilated 1A (CMD1A)
Swiss-ProtVAR_039772Diseasep.LEU248PROEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_064966Diseasep.LEU271PROEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_063590Diseasep.LEU302PROMuscular dystrophy congenital LMNA-related (MDCL)
Swiss-ProtVAR_064972Diseasep.LEU454PROEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_009997Diseasep.LEU530PROEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_063591Diseasep.LEU380SERMuscular dystrophy congenital LMNA-related (MDCL)
Swiss-ProtVAR_039752Diseasep.LEU35VALEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_039773Polymorphismp.LYS260ASNN/A
Swiss-ProtVAR_009994Diseasep.LYS486ASNLipodystrophy, familial partial, 2 (FPLD2)
Swiss-ProtVAR_034710Diseasep.LYS542ASNHutchinson-Gilford progeria syndrome (HGPS)
Swiss-ProtVAR_039759Diseasep.LYS97GLUCardiomyopathy, dilated 1A (CMD1A)
Swiss-ProtVAR_009986Diseasep.MET371LYSEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_064964Diseasep.PHE206LEUEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_039789Diseasep.SER573LEUMandibuloacral dysplasia with type A lipodystrophy (MADA)
Swiss-ProtVAR_034707Diseasep.SER143PHEHutchinson-Gilford progeria syndrome (HGPS)
Swiss-ProtVAR_039761Diseasep.SER143PROCardiomyopathy, dilated 1A (CMD1A)
Swiss-ProtVAR_064965Diseasep.SER268PROEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_064967Diseasep.SER295PROEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_064968Diseasep.SER303PROEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_039785Diseasep.THR528ARGEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_039745Polymorphismp.THR10ILEN/A
Swiss-ProtVAR_009996Diseasep.THR528LYSEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_039762Diseasep.THR150PROEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_064974Diseasep.TRP467ARGEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_039784Diseasep.TRP520SEREmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_039774Diseasep.TYR267CYSEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_009971Diseasep.TYR45CYSEmery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
Swiss-ProtVAR_039783Diseasep.TYR481HISLimb-girdle muscular dystrophy 1B (LGMD1B)
OMIM150330.0030 Diseasep.ALA57PROCARDIOMYOPATHY, DILATED, WITH HYPERGONADOTRIPIC HYPOGONADISM
OMIM150330.0046 Diseasep.ALA529THRMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
OMIM150330.0037 Diseasep.ALA529VALMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
OMIM150330.0020 Diseasep.ARG298CYSCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1
OMIM150330.0043 Diseasep.ARG399CYSLIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM150330.0025 Diseasep.ARG471CYSMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL
OMIM150330.0026 Diseasep.ARG527CYSMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
OMIM150330.0051 Diseasep.ARG644CYSVARIANT OF UNKNOWN SIGNIFICANCE
OMIM150330.0010 Diseasep.ARG482GLNLIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM150330.0053 Diseasep.ARG541GLYCARDIOMYOPATHY, DILATED, 1A
OMIM150330.0005 Diseasep.ARG60GLYCARDIOMYOPATHY, DILATED, 1A||LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, INCLUDED
OMIM150330.0017 Diseasep.ARG377HISMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B||CARDIOMYOPATHY, DILATED, 1A, INCLUDED
OMIM150330.0021 Diseasep.ARG527HISMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY||MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUD
OMIM150330.0016 Diseasep.ARG582HISLIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM150330.0027 Diseasep.ARG133LEULIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2||HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET, INCLUDED
OMIM150330.0012 Diseasep.ARG482LEULIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM150330.0032 Diseasep.ARG133PROEMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
OMIM150330.0003 Diseasep.ARG527PROEMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT||LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, INCLUDED
OMIM150330.0009 Diseasep.ARG571SERCARDIOMYOPATHY, DILATED, 1A
OMIM150330.0048 Diseasep.ARG249TRPMUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
OMIM150330.0002 Diseasep.ARG453TRPEMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
OMIM150330.0011 Diseasep.ARG482TRPLIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM150330.0007 Diseasep.ASN195LYSCARDIOMYOPATHY, DILATED, 1A
OMIM150330.0042 Diseasep.ASP230ASNLIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM150330.0038 Diseasep.GLN493TERMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B
OMIM150330.0001 Diseasep.GLN6TEREMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
OMIM150330.0008 Diseasep.GLU203GLYCARDIOMYOPATHY, DILATED, 1A
OMIM150330.0024 Diseasep.GLU145LYSHUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL
OMIM150330.0028 Diseasep.GLU161LYSCARDIOMYOPATHY, DILATED, 1A
OMIM150330.0049 Diseasep.GLU358LYSEMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT||MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED, INCLUDED;;||MUSCULA
OMIM150330.0015 Diseasep.GLY465ASPLIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
OMIM150330.0022 Diseasep.GLY608GLYHUTCHINSON-GILFORD PROGERIA SYNDROME||RESTRICTIVE DERMOPATHY, LETHAL, INCLUDED
OMIM150330.0023 Diseasep.GLY608SERHUTCHINSON-GILFORD PROGERIA SYNDROME
OMIM150330.0014 Diseasep.HIS222TYREMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE
OMIM150330.0031 Diseasep.LEU140ARGHUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET
OMIM150330.0052 Diseasep.LEU59ARGCARDIOMYOPATHY, DILATED, WITH HYPERGONADOTRIPIC HYPOGONADISM
OMIM150330.0006 Diseasep.LEU85ARGCARDIOMYOPATHY, DILATED, 1A
OMIM150330.0004 Diseasep.LEU530PROEMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
OMIM150330.0047 Diseasep.LEU380SERMUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
OMIM150330.0033 Diseasep.LYS542ASNMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
OMIM150330.0041 Diseasep.SER573LEUCARDIOMYOPATHY, DILATED, 1A||MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUDED;;||LIPODYSTROPHY, FA
OMIM150330.0034 Diseasep.SER143PHEMUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
OMIM150330.0035 Diseasep.TYR259TERMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B
OMIM150330.0044 Diseasep.VAL440METMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL
OMIM150330.0040 Diseasep.VAL607VALHUTCHINSON-GILFORD PROGERIA SYNDROME



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