Arthrogryposis multiplex congenita

Disease Term Disease ID Gene Symbol Classification References Source
ARTHROGRYPOSIS MULTIPLEX CONGENITA
C5779613MONDO:0015168
SLC35A3 Unknown — Disgenet
SPAG16 Unknown — Disgenet
SYNE1 Unknown — Disgenet
TMPO Unknown — Disgenet
TNNI2 Unknown — Disgenet
TNNT3 Unknown — Disgenet
TPM2 Unknown — Disgenet
UNC50 Unknown — Disgenet
VPS13D Unknown — Disgenet
VPS33B Unknown — Disgenet
VPS8 Unknown
19896109 19896113
ClinGen Disgenet GenCC
ZEB2 Unknown — Disgenet
ZNF875 Unknown — Disgenet
ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT
617468C4479539MONDO:0060486OMIM:617468
LGI4 Causal
18974846 21068328 28318499 29858556
CTD ClinVar Disgenet HPO
ARTHROGRYPOSIS MULTIPLEX CONGENITA 2, NEUROGENIC TYPE
208100C5435650MONDO:0008823
ERGIC1 Causal
28317099 31230720
ClinVar Disgenet HPO
LGI4 Causal — Disgenet
ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE
618484C5193121MONDO:0032778
SYNE1 Causal
19542096 24319099 27234031 27782104
ClinGen ClinVar Disgenet HPO Orphanet
ESR1 Unknown — Disgenet
ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM
618766C5231494MONDO:0032903
SCYL2 Causal
26203146 29437892 30125339 31960134
ClinVar Disgenet HPO Orphanet
ARTHROGRYPOSIS MULTIPLEX CONGENITA 5
618947C5436453MONDO:0100218
TOR1A Causal
28516161 30244176 33175450 33832800 36757831
ClinVar Disgenet GWAS catalog HPO
ARTHROGRYPOSIS MULTIPLEX CONGENITA 6
619334C5543431MONDO:0030281
NEB Causal — ClinVar Disgenet HPO
RIF1 Unknown — Disgenet
ARTHROGRYPOSIS MULTIPLEX CONGENITA 7, X-LINKED
301127MONDO:0975826
THOC2 Unknown — ClinVar HPO
ARTHROGRYPOSIS MULTIPLEX CONGENITA NEUROGENIC TYPE
C1859721MESH:C536614
COL25A1 Unknown — Disgenet
ERGIC1 Unknown — CTD Disgenet
SCYL2 Unknown — Disgenet
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
C0220666
PIEZO2 Unknown — Disgenet
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED
C1844934MESH:C535380
UBA1 Unknown — CTD Disgenet
ZC4H2 Unknown
23623388
CTD Disgenet