Holoprosencephaly

Disease Term Disease ID Gene Symbol Classification References Source
Holoprosencephaly C0079541 CDON Causal Pathogenic evidence from ClinVar 21802063 ClinVar
FGF8 Causal Pathogenic evidence from ClinVar 27363716 ClinVar
FGFR1 Causal Pathogenic evidence from ClinVar - ClinVar
GLI2 Causal Pathogenic evidence from ClinVar 27585885 ClinVar
PTCH1 Causal Pathogenic evidence from ClinVar - ClinVar
SHH Causal Pathogenic evidence from ClinVar 7550324, 12032320, 15107988, 17525797, 23264560, 27585885 ClinVar
SIX3 Causal Pathogenic evidence from ClinVar 10369266 ClinVar
TGIF1 Causal Pathogenic evidence from ClinVar 16705179 ClinVar
ZIC2 Causal Pathogenic evidence from ClinVar - ClinVar
ARID1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
B3GALNT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BUB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BUB1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BUB3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
C2CD3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CEP57 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CHD7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CILK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DHCR7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DISP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27363716 -
DLL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FGFR3 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 - -
FOXH1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27363716 -
GAS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17525797 -
GLI3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GMPPB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GPKOW Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HESX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HOXA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HPE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HUWE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
L1CAM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LARGE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LHX4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MATN4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HOLOPROSENCEPHALY 11 C3280215 CDON Causal Pathogenic evidence from ClinVar 21802063 ClinVar
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) C1835819 GLI2 Causal Pathogenic evidence from ClinVar 14581620, 17096318, 20685856, 25878059 ClinVar
HOLOPROSENCEPHALY 7 C1835820 PTCH1 Causal Pathogenic evidence from ClinVar 8658145, 11941477, 17001668, 17096318, 26893459 ClinVar
HOLOPROSENCEPHALY 3 C1840529 SHH Causal Pathogenic evidence from ClinVar 7550324, 8896572, 9302262, 10441331, 10556296, 11479728, 12503095, 15107988, 15221788, 15942952, 15942953, 16282375, 17001669, 19603532, 22897141 ClinVar
SIX3 Causal Pathogenic evidence from ClinVar - ClinVar
HOLOPROSENCEPHALY 2 (disorder) C1834877 SIX3 Causal Pathogenic evidence from ClinVar 10369266, 15221788, 15523651, 17001667, 18791198, 20531442, 21976454 ClinVar
ZIC2 Causal Pathogenic evidence from ClinVar - ClinVar
HOLOPROSENCEPHALY 4 (disorder) C1840528 SIX3 Causal Pathogenic evidence from ClinVar - ClinVar
TGIF1 Causal Pathogenic evidence from ClinVar 10835638, 11810641, 15221788, 16962354, 23476075 ClinVar
ZIC2 Causal Pathogenic evidence from ClinVar - ClinVar
HOLOPROSENCEPHALY 5 C1864827 SIX3 Causal Pathogenic evidence from ClinVar 11039582 ClinVar
TGIF1 Causal Pathogenic evidence from ClinVar - ClinVar
ZIC2 Causal Pathogenic evidence from ClinVar 9771712, 11285244, 15221788, 15590697, 19177455, 19955556, 21976454, 24706429 ClinVar