PS115200 | DILATED CARDIOMYOPATHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 36 | MYBPC3, 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 |
PS118220 | CHARCOT-MARIE-TOOTH DISEASE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 48 | KARS, 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 |
PS159000 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 6 | HNRNPDL, TNPO3, CAV3, LMNA, MYOT, DNAJB6 |
212112 | CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM | OMIM, HUMSAVAR | link to OMIM | 1 | LMNA |
PS248370 | MANDIBULOACRAL DYSPLASIA WITH LIPODYSTROPHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | LMNA, ZMPSTE24 |
610140 | HEART-HAND SYNDROME, SLOVENIAN TYPE | OMIM | link to OMIM | 1 | LMNA |
PS604772 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC | ClinVar | link to OMIM | 15 | TRDN, MYBPC3, TPM1, SCN5A, DMPK, LMNA, CALM1, DSP, RYR2, ANK2, TRPM4, KCNH2, LAMA4, CASQ2, DSG2 |
PS176670 | PROGERIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | BANF1, LMNA |
613205 | MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | LMNA |
275210 | RESTRICTIVE DERMOPATHY, LETHAL | OMIM | link to OMIM | 2 | LMNA, ZMPSTE24 |
PS151660 | LIPODYSTROPHY, FAMILIAL PARTIAL | ClinVar, OMIM, HUMSAVAR | link to OMIM | 6 | PPARG, LIPE, PLIN1, CIDEC, LMNA, PPP1R3A |
PS310300 | EMERY-DREIFUSS MUSCULAR DYSTROPHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 6 | SYNE1, FHL1, TMEM43, EMD, SYNE2, LMNA |