Congenital central hypoventilation

Disease Term Disease ID Gene Symbol Classification References Source
Congenital central hypoventilation C1275808 PHOX2B Causal Pathogenic evidence from ClinVar 12640453, 14566559, 14608649, 15024693, 15334515, 15657873, 16691592, 20208042, 26063465 ClinVar
ASCL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BDNF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11840487, 15657604, 23649659, 30643666 -
EDN3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8696331, 9359047 -
GDNF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9497256 -
MYO1H Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28779001 -
PAH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RET Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9497256, 12086152, 14566559 -