Williams syndrome

Disease Term Disease ID Gene Symbol Classification References Source
WILLIAMS SYNDROME
904C0175702MESH:D018980MONDO:0008678
ELN Causal
20301427
CTD ClinVar Disgenet Orphanet
BAZ1B Unknown — CTD Disgenet Orphanet
BUD23 Unknown
22036171 17159124 21855841 12605447 30414627 21671373 32976914 33559318 30323018
Disgenet Orphanet
CLIP2 Unknown
19703992 22795537 24818805 25810209
Disgenet Orphanet
DLG4 Unknown — CTD Disgenet
DNAJC30 Unknown
16448863 20301427
Disgenet Orphanet
EIF4H Unknown
11978965
Disgenet Orphanet
FKBP6 Unknown
20952458
Disgenet Orphanet
FZD3 Unknown — Disgenet
GTF2I Unknown
8812460
CTD Disgenet Orphanet
GTF2IRD1 Unknown
20301427
CTD Disgenet Orphanet
GTF2IRD2 Unknown
9782077
Disgenet Orphanet
LAT2 Unknown — Disgenet
LIMK1 Unknown
20007321 21328569 20301427
Disgenet Orphanet
METTL27 Unknown
20007321 20301427
Disgenet Orphanet
MLXIPL Unknown
15243160
CTD ClinVar Disgenet
NCF1 Unknown — Disgenet Orphanet
RCC1L Unknown
20301427
Disgenet
RFC2 Unknown
18398435
Disgenet Orphanet
RNF157 Unknown — Disgenet
STX1A Unknown
9311751
Disgenet Orphanet
TBL2 Unknown — Disgenet Orphanet
TMEM270 Unknown
20301427
Disgenet Orphanet
VPS37D Unknown — Disgenet Orphanet
WILLIAMS-BEUREN SYNDROME
194050
ELN Unknown
9311751
HPO
MLXIPL Unknown
20301427
HPO