Disease Term Disease ID Gene Symbol Classification References Source
Atelosteogenesis Type 3 C3668942 FLNB Causal Pathogenic evidence from ClinVar 14991055 ClinVar
Atelosteogenesis type I 1190 FLNB Causal Pathogenic evidence from ClinVar - ClinVar
Atelosteogenesis type III 56305 FLNB Causal Pathogenic evidence from ClinVar - ClinVar
Atelosteogenesis, type 1 C0265283 FLNB Causal Pathogenic evidence from ClinVar 14991055 ClinVar
FLNB-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Atelosteogenesis type 2 C1850554 SLC26A2 Causal Pathogenic evidence from ClinVar 8528239, 8571951, 8931695, 9342225, 10465113, 10482955, 11241838, 11448940, 12525546, 12966518, 15294877, 15316973, 16642506, 18925670, 20219950, 20525296, 20592910, 21077202, 21077204, 21155763, 21922596, 25667404, 26375458 ClinVar
Atelosteogenesis type II 56304 SLC26A2 Causal Pathogenic evidence from ClinVar - ClinVar