Microphthalmia with coloboma

Disease Term Disease ID Gene Symbol Classification References Source
Colobomatous microphthalmia 98938 ABCB6 Causal Pathogenic evidence from ClinVar - ClinVar
RBP4 Causal Pathogenic evidence from ClinVar - ClinVar
SHH Causal Pathogenic evidence from ClinVar - ClinVar
TENM3 Causal Pathogenic evidence from ClinVar - ClinVar
GDF3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GDF6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
STRA6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
VSX2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 C3281027 ABCB6 Causal Pathogenic evidence from ClinVar 22226084, 29903433 ClinVar
PAX6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
YAP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 C4225330 RBP4 Causal Pathogenic evidence from ClinVar 25910211 ClinVar
FFAR4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder) C1968843 SHH Causal Pathogenic evidence from ClinVar 12503095, 12567406, 22897141 ClinVar
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 C3554592 TENM3 Causal Pathogenic evidence from ClinVar 22766609 ClinVar
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 C3150968 GDF3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19864492 -
GDF6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17236135 -
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8 C3540845 STRA6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Microphthalmia, Isolated, with Coloboma 3 C1864721 VSX2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10932181, 15257456, 17919464, 24033328, 27301076 -