Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
0.340 GermlineCausalMutation disease ORPHANET Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448 2014
Entrez Id: 57514
Gene Symbol: ARHGAP31
ARHGAP31
0.310 GermlineCausalMutation disease ORPHANET Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. 21565291 2011
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ
0.300 GermlineCausalMutation disease ORPHANET RBPJ mutations identified in two families affected by Adams-Oliver syndrome. 22883147 2012