Congenital lipodystrophy

Disease Term Disease ID Gene Symbol Classification References Source
Congenital generalized lipodystrophy 528 AGPAT2 Causal Pathogenic evidence from ClinVar - ClinVar
BSCL2 Causal Pathogenic evidence from ClinVar - ClinVar
CAV1 Causal Pathogenic evidence from ClinVar - ClinVar
CAVIN1 Causal Pathogenic evidence from ClinVar - ClinVar
FOS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PPARG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Congenital Generalized Lipodystrophy Type 1 C1720862 AGPAT2 Causal Pathogenic evidence from ClinVar 11967537, 15629135, 22902344 ClinVar
BSCL2 Causal Pathogenic evidence from ClinVar - ClinVar
AGPS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Congenital Generalized Lipodystrophy Type 2 C1720863 AGPAT2 Causal Pathogenic evidence from ClinVar - ClinVar
BSCL2 Causal Pathogenic evidence from ClinVar 11479539, 11916958, 15181077, 26392352, 31369919 ClinVar
HNRNPUL2-BSCL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11916958 -