Axenfeld anomaly

Disease Term Disease ID Gene Symbol Classification References Source
Axenfeld anomaly (disorder) C0266548 FOXC1 Causal Pathogenic evidence from ClinVar 9620769, 11170889 ClinVar
PITX2 Causal Pathogenic evidence from ClinVar 19513095, 24433355 ClinVar
COL4A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17696175, 17938367, 20385946 -
JAG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Axenfeld-Rieger syndrome 782, C3495488 FOXC1 Causal Pathogenic evidence from ClinVar 19513095 ClinVar
PITX2 Causal Pathogenic evidence from ClinVar 19513095 ClinVar
COL4A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17696175, 20385946 -
Axenfeld-Rieger Syndrome, Type 1 C3714873 FOXC1 Causal Pathogenic evidence from ClinVar 14630904 ClinVar
PITX2 Causal Pathogenic evidence from ClinVar 8944018, 10502778, 10644443, 10937553, 11487566, 12381896, 14623826, 14630904, 15378534, 16936096 ClinVar
COL4A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17696175, 20385946 -
PAX6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 14630904 -
AXENFELD-RIEGER SYNDROME, TYPE 3 C2678503 FOXC1 Causal Pathogenic evidence from ClinVar 9792859, 11170889, 11179011, 11589884, 11740218, 11782474, 12454026, 12592227, 12614756, 14506133, 14578375, 15277473, 15477465, 16449236, 16936096, 17210863, 17653043, 18498376, 19279310, 19793056, 20881294, 23239455, 23686687, 24914578, 25786029, 27804176, 28513611, 28979898 ClinVar
COL4A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17696175, 20385946 -
Rieger eye malformation sequence C3495489 FOXC1 Causal Pathogenic evidence from ClinVar - ClinVar
PITX2 Causal Pathogenic evidence from ClinVar - ClinVar
ADAMTSL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CPLX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CTBP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FGFRL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IGF1R Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LETM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NSD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PIK3R1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
WHCR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Axenfeld syndrome C1280768 COL4A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17696175, 20385946 -