Gene table of LMNA : lamin A/C

Gene-disease associations table

Disease IDDisease nameSource of annotation with LMNAOMIM linkNumber of associated genesgenes
PS115200DILATED CARDIOMYOPATHYClinVar, OMIM, HUMSAVAR link to OMIM 36MYBPC3, VCL, PSEN2, PLN, LDB3, ACTC1, BAG3, RBM20, CSRP3, RAF1, MYH7, SGCD, TTN, FKTN, CRYAB, NEXN, SDHA, ABCC9, DSG2, ACTN2, TNNT2, GATAD1, EYA4, TNNC1, LAMA4, SCN5A, MYH6, DMD, TPM1, TNNI3, PRDM16, DES, LMNA, TMPO, MYPN, PSEN1
PS118220CHARCOT-MARIE-TOOTH DISEASEClinVar, OMIM, HUMSAVAR link to OMIM 48KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, RAB7A, LMNA, VCP, GDAP1, AIFM1, MORC2, SH3TC2, SPG11, JPH1, PLEKHG5, NEFH, NAGLU, MTMR2, HARS, HSPB8, HSPB1, PMP22, MED25, TRIM2, SBF1, DYNC1H1, MFN2, DNM2, NDRG1, MARS, SBF2, IGHMBP2, NEFL, EGR2, AARS, COX6A1, PDK3, DHTKD1, HK1, GJB1, LRSAM1, PRX, TRPV4, LITAF, SURF1, YARS, GARS
PS159000MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANTClinVar, OMIM, HUMSAVAR link to OMIM 6HNRNPDL, TNPO3, CAV3, LMNA, MYOT, DNAJB6
212112CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISMOMIM, HUMSAVAR link to OMIM 1LMNA
PS248370MANDIBULOACRAL DYSPLASIA WITH LIPODYSTROPHYClinVar, OMIM, HUMSAVAR link to OMIM 2LMNA, ZMPSTE24
610140HEART-HAND SYNDROME, SLOVENIAN TYPEOMIM link to OMIM 1LMNA
PS604772VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHICClinVar link to OMIM 15TRDN, MYBPC3, TPM1, SCN5A, DMPK, LMNA, CALM1, DSP, RYR2, ANK2, TRPM4, KCNH2, LAMA4, CASQ2, DSG2
PS176670PROGERIAClinVar, OMIM, HUMSAVAR link to OMIM 2BANF1, LMNA
613205MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATEDClinVar, OMIM, HUMSAVAR link to OMIM 1LMNA
275210RESTRICTIVE DERMOPATHY, LETHALOMIM link to OMIM 2LMNA, ZMPSTE24
PS151660LIPODYSTROPHY, FAMILIAL PARTIALClinVar, OMIM, HUMSAVAR link to OMIM 6PPARG, LIPE, PLIN1, CIDEC, LMNA, PPP1R3A
PS310300EMERY-DREIFUSS MUSCULAR DYSTROPHYClinVar, OMIM, HUMSAVAR link to OMIM 6SYNE1, FHL1, TMEM43, EMD, SYNE2, LMNA

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Annotation of the gene LMNA

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Hypertrophic cardiomyopathy (HCM)hsa054106.21
Arrhythmogenic right ventricular cardiomyopathy (ARVC)hsa054126.32
Dilated cardiomyopathyhsa054146.08
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Initiation of Nuclear Envelope ReformationR-HSA-29953839.28
Apoptotic execution phaseR-HSA-751537.28
Programmed Cell DeathR-HSA-53578015.65
Meiotic synapsisR-HSA-12216327.18
Cell CycleR-HSA-16401703.89
Mitotic ProphaseR-HSA-688756.27
Mitotic Metaphase and AnaphaseR-HSA-25553965.45
Apoptotic cleavage of cellular proteinsR-HSA-1114657.73
Cell Cycle, MitoticR-HSA-692784.16
Metabolism of proteinsR-HSA-3924993.41
M PhaseR-HSA-688864.87
Depolymerisation of the Nuclear LaminaR-HSA-44199699.08
Mitotic AnaphaseR-HSA-688825.46
Clearance of Nuclear Envelope Membranes from ChromatinR-HSA-29939139.81
IRE1alpha activates chaperonesR-HSA-3810707.2
Unfolded Protein Response (UPR)R-HSA-3811196.56
XBP1(S) activates chaperone genesR-HSA-3810387.25
MeiosisR-HSA-15006206.59
Breakdown of the nuclear laminaR-HSA-35223811.4
Nuclear Envelope BreakdownR-HSA-29807667.34
ApoptosisR-HSA-1095815.68
Nuclear Envelope ReassemblyR-HSA-29954109.28
Associated GO terms for Molecular function
GO termGO IDGO IC
phosphatase bindingGO:00199024.63
enzyme bindingGO:00198992.27
structural molecule activityGO:00051983.1
protein phosphatase bindingGO:00199034.93
protein phosphatase 1 bindingGO:00081576.69
bindingGO:00054880.18
protein bindingGO:00055150.46