Disease Term Disease ID Gene Symbol Classification References Source
Polydactyly C0152427 CC2D2A Causal Pathogenic evidence from ClinVar 23351400 ClinVar
GLI3 Causal Pathogenic evidence from ClinVar 17688467, 31115189 ClinVar
ZNF141 Causal Pathogenic evidence from ClinVar 23160277 ClinVar
ADNP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AHI1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1341417 -
AKT3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22729223 -
ALMS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24400638 -
ALX3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ALX4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9847249 -
ARL6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19858128 -
ARMC8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
B9D1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24886560 -
B9D2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26092869 -
BBS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11567139 -
BBS10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BBS12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BBS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BBS4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BBS5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BBS7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BBS9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BHLHA9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22147889 -
BMP4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21340693 -
C2CD3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Polydactyly preaxial type 1 C1395852 CC2D2A Causal Pathogenic evidence from ClinVar - ClinVar
GLI1 Causal Pathogenic evidence from ClinVar 30620395 ClinVar
GLI3 Causal Pathogenic evidence from ClinVar - ClinVar
B9D1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
B9D2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BHLHA9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
POLYDACTYLY, POSTAXIAL C0220697 CC2D2A Causal Pathogenic evidence from ClinVar - ClinVar
CIBAR1 Causal Pathogenic evidence from ClinVar 30395363 ClinVar
GLI1 Causal Pathogenic evidence from ClinVar - ClinVar
GLI3 Causal Pathogenic evidence from ClinVar - ClinVar
IQCE Causal Pathogenic evidence from ClinVar - ClinVar
ARL6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
B9D2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BBS12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Polydactyly, Postaxial, Type A1 C4282400 CIBAR1 Causal Pathogenic evidence from ClinVar 30395363 ClinVar
GLI3 Causal Pathogenic evidence from ClinVar 9354785, 10441570, 28315472, 31115189 ClinVar
Postaxial polydactyly type A C3887487 CIBAR1 Causal Pathogenic evidence from ClinVar 30395363 ClinVar
GLI3 Causal Pathogenic evidence from ClinVar 22428873, 26394607 ClinVar
IQCE Causal Pathogenic evidence from ClinVar 26394607, 28488682 ClinVar
KIAA0825 Causal Pathogenic evidence from ClinVar 30982135 ClinVar
ZNF141 Causal Pathogenic evidence from ClinVar 23160277, 26394607 ClinVar
POLYDACTYLY, POSTAXIAL, TYPE A8 C4748277 GLI1 Causal Pathogenic evidence from ClinVar 30620395 ClinVar
Bilateral postaxial polydactyly C1855003 GLI3 Causal Pathogenic evidence from ClinVar - ClinVar
Polydactyly, preaxial 4 C1868111 GLI3 Causal Pathogenic evidence from ClinVar 26394607, 31115189 ClinVar
POLYDACTYLY, POSTAXIAL, TYPE A7 C4539976 IQCE Causal Pathogenic evidence from ClinVar 28488682 ClinVar
POLYDACTYLY, POSTAXIAL, TYPE A6 C3808889 ZNF141 Causal Pathogenic evidence from ClinVar 23160277 ClinVar