Disease Term Disease ID Gene Symbol Classification References Source
CONGENITAL HEART DISEASE CASZ1 Unknown ClinGen Disgenet GWAS catalog
CDH13 Unknown GWAS catalog
CDH2 Unknown Disgenet GWAS catalog
CHRD Unknown ClinGen Disgenet GWAS catalog
CITED2 Unknown ClinGen Disgenet GWAS catalog
CLEC10A Unknown GWAS catalog
COL1A1 Unknown Disgenet
COL1A2 Unknown ClinGen Disgenet
USP43 Unknown Disgenet
USP44 Unknown ClinGen Disgenet GWAS catalog
VEGFA Unknown ClinGen Disgenet GWAS catalog
WDR5 Unknown ClinGen Disgenet
YTHDC2 Unknown GWAS catalog
ZFPM1 Unknown ClinGen Disgenet HPO
CONGENITAL HEMANGIOMA GNA11 Unknown CTD
GNAQ Unknown GWAS catalog
HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS L1CAM Unknown Orphanet
HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1 TRIM71 Causal ClinVar GWAS catalog
HYDROCEPHALUS, CONGENITAL, 1 CCDC88C Unknown Disgenet HPO
DOCK6 Unknown Disgenet
FSD1L Unknown Disgenet
HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES ACADM Unknown Disgenet
ANO6 Unknown Disgenet
MPDZ Unknown CTD Disgenet HPO
HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES WDR81 Causal ClinVar Disgenet HPO
HYDROCEPHALUS, CONGENITAL, 4 TRIM71 Unknown Disgenet HPO
HYDROCEPHALUS, CONGENITAL, 5, SUSCEPTIBILITY TO SMARCC1 Causal ClinVar Disgenet
HYDROCEPHALUS, CONGENITAL, X-LINKED L1CAM Unknown HPO
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1 CCDC88C Causal ClinVar GWAS catalog
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2 MPDZ Causal ClinVar GenCC
HYDROCEPHALUS, X-LINKED L1CAM Unknown CTD
HYDROCEPHALUS, X-LINKED, WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION L1CAM Causal Disgenet