Anterior segment dysgenesis

Disease Term Disease ID Gene Symbol Classification References Source
Anterior segment mesenchymal dysgenesis C1862839 CPAMD8 Causal Pathogenic evidence from ClinVar - ClinVar
CYP1B1 Causal Pathogenic evidence from ClinVar - ClinVar
FOXE3 Causal Pathogenic evidence from ClinVar 21150893 ClinVar
PXDN Causal Pathogenic evidence from ClinVar - ClinVar
PITX3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9620774, 18989383 -
PTCH1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Autosomal recessive anterior segment dysgenesis 519388 CPAMD8 Causal Pathogenic evidence from ClinVar - ClinVar
Irido-corneal dysgenesis C0266525 CPAMD8 Causal Pathogenic evidence from ClinVar 27839872 ClinVar
FOXD3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22815627 -
ANTERIOR SEGMENT DYSGENESIS 5 C4310809 CYP1B1 Causal Pathogenic evidence from ClinVar 9097971, 9497261, 12372064 ClinVar
FOXC1 Causal Pathogenic evidence from ClinVar 19793056 ClinVar
PAX6 Causal Pathogenic evidence from ClinVar 2855731, 7550230, 8111279, 8162071, 8364574, 9482572, 9792406, 10234503, 10441571, 10737978, 11309364, 12552561, 12634864, 12721955, 15579687, 15889018, 16712695, 17148041, 18241071, 18483559, 19862335, 19898691, 20577777, 21397818, 21423868, 21850189, 22692063, 23761016, 24737507, 26535646, 26661695, 26849621, 27081502, 27307692, 27431685, 27455012, 28321846, 29618921 ClinVar
PITX2 Causal Pathogenic evidence from ClinVar 11487566 ClinVar
CYP1B1-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ELP4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11309364, 12552561, 27431685, 28321846, 29618921 -
PTCH1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26893459 -
Irido-corneo-trabecular dysgenesis (disorder) C0344559 CYP1B1 Causal Pathogenic evidence from ClinVar 11403040, 15621878, 16735991 ClinVar
FOXC1 Causal Pathogenic evidence from ClinVar 9620769, 11170889, 12614756, 18498376 ClinVar
FOXE3 Causal Pathogenic evidence from ClinVar 27218149 ClinVar
PAX6 Causal Pathogenic evidence from ClinVar 8162071, 10441571, 15090434 ClinVar
PITX2 Causal Pathogenic evidence from ClinVar 10051017 ClinVar
B3GLCT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CENPF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CRPPA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FKRP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FKTN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FOXD3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22815627 -
LARGE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NCAPG2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PITX3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
POMT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
POMT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TRIM44 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
WDR37 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 31327508 -
IRIDOGONIODYSGENESIS, TYPE 2 C1842031 PITX2 Causal Pathogenic evidence from ClinVar 8944018, 9437321, 9618168, 10051017, 11487566, 20881294 ClinVar