Microphthalmia

Disease Term Disease ID Gene Symbol Classification References Source
MICROPHTHALMIA, ISOLATED 1 C1855052 ALDH1A3 Causal Pathogenic evidence from ClinVar 23312594 ClinVar
RAX Causal Pathogenic evidence from ClinVar 24033328 ClinVar
VSX2 Causal Pathogenic evidence from ClinVar 10932181 ClinVar
GDF3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19864492 -
OTX2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24033328 -
SIX6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SOX2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24033328 -
MICROPHTHALMIA, ISOLATED 8 C3554524 ALDH1A3 Causal Pathogenic evidence from ClinVar 11826019, 23312594, 23591992, 23646827, 23881059, 24024553, 24568872, 24777706, 24859610, 24859618 ClinVar
MICROPHTHALMIA, ISOLATED 6 C3150757 PRSS56 Causal Pathogenic evidence from ClinVar 21397065, 21532570, 21850159, 29450879 ClinVar
Microphthalmia, Isolated 3 C1970237 RAX Causal Pathogenic evidence from ClinVar 14662654, 18783408, 24033328 ClinVar
MICROPHTHALMIA, ISOLATED 2 C1864720 VSX2 Causal Pathogenic evidence from ClinVar 15257456, 21976963 ClinVar
Microphthalmia, Lenz type 568 BCOR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NAA10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MICROPHTHALMIA, ISOLATED 7 C3150969 GDF3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19864492 -
MICROPHTHALMIA, ISOLATED 4 (disorder) C2751307 GDF6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17236135, 19129173, 23307924, 24033328 -