Anophthalmia/microphthalmia-esophageal atresia syndrome

Disease Term Disease ID Gene Symbol Classification References Source
ANOPHTHALMIA-MICROPHTHALMIA SYNDROME
C5680330MONDO:0020147ORPHA98555
OTX2 Causal — ClinVar Disgenet
PORCN Causal — ClinVar
PTCH1 Causal — Disgenet
STRA6 Causal — Disgenet
VSX2 Causal — Disgenet
WNT7B Causal — Disgenet
BMP4 Unknown — ClinVar
C14ORF39 Unknown — Disgenet
CRYBA4 Unknown — ClinVar
DACH1 Unknown — ClinVar
ELP4 Unknown — Disgenet
GATD3 Unknown — ClinVar
HESX1 Unknown — ClinVar
IKBKG Unknown — ClinVar
NHS Unknown — ClinVar
PAX2 Unknown — ClinVar
PAX6 Unknown — ClinVar Disgenet
PITX2 Unknown — ClinVar
PITX3 Unknown — ClinVar
RAX Unknown — ClinVar Disgenet
SIX3 Unknown — ClinVar
SIX6 Unknown — Disgenet
TFAP2A Unknown — ClinVar
VAX1 Unknown — ClinVar
ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME
77298MONDO:0008799
SOX2 Causal
16145681 21919124 16283891 19254784 18831064 21326281 15812812 12002146 15389708 16932809 12612584 16470798 15346919 16543359 17219395 24033328
CTD ClinVar Orphanet
SIX6 Unknown — ClinVar