Diastrophic dysplasia

Disease Term Disease ID Gene Symbol Classification References Source
Diastrophic dysplasia C0220726 SLC26A2 Causal Pathogenic evidence from ClinVar 8528239, 8571951, 8931695, 9342225, 10465113, 10482955, 11241838, 11303514, 11448940, 11565064, 12525546, 12966518, 15294877, 15316973, 16642506, 18925670, 20219950, 20525296, 20592910, 21077202, 21077204, 21155763, 21922596, 24598000, 25667404, 26375458, 27065010 ClinVar
ARL13B 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 - -
BBS5 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 - -
CEP290 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DYNC2H1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KIAA0586 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LRRCC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TMEM231 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TMEM67 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TRAPPC3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
WDR19 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant C1857255 SLC26A2 Causal Pathogenic evidence from ClinVar - ClinVar