Partial lipodystrophy

Disease Term Disease ID Gene Symbol Classification References Source
CIDEC-related familial partial lipodystrophy 435651 CIDEC Causal Pathogenic evidence from ClinVar - ClinVar
Familial partial lipodystrophy C0271694 CIDEC Causal Pathogenic evidence from ClinVar - ClinVar
LMNA Causal Pathogenic evidence from ClinVar 12844477, 14510863, 16241930, 19793595, 24080738 ClinVar
PLIN1 Causal Pathogenic evidence from ClinVar - ClinVar
PPARG Causal Pathogenic evidence from ClinVar 19793595 ClinVar
ADRA2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27376152 -
AKT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19793595 -
CAV1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19793595 -
LIPE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Familial Partial Lipodystrophy, Type 1 C1720859 CIDEC Causal Pathogenic evidence from ClinVar - ClinVar
LMNA Causal Pathogenic evidence from ClinVar 12844477, 14510863, 15298354, 16241930, 18041775, 19793595 ClinVar
PLIN1 Causal Pathogenic evidence from ClinVar - ClinVar
PPARG Causal Pathogenic evidence from ClinVar 19793595 ClinVar
AKT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19793595 -
CAV1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19793595 -
LIPE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Familial Partial Lipodystrophy, Type 2 C1720860 CIDEC Causal Pathogenic evidence from ClinVar - ClinVar
LMNA Causal Pathogenic evidence from ClinVar 10587585, 10655060, 10739751, 11792809, 11799477, 12015247, 12196663, 12629077, 12844477, 14510863, 15372542, 16241930, 17250669, 17711925, 19220582, 19793595, 20186049, 21346069, 24002959, 24485160, 27532257 ClinVar
PLIN1 Causal Pathogenic evidence from ClinVar - ClinVar
PPARG Causal Pathogenic evidence from ClinVar 19793595 ClinVar
AKT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19793595 -
CAV1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19793595 -
LIPE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Familial Partial Lipodystrophy, Type 3 C1720861 CIDEC Causal Pathogenic evidence from ClinVar - ClinVar
LMNA Causal Pathogenic evidence from ClinVar 12844477, 14510863, 16241930, 19793595 ClinVar
PLIN1 Causal Pathogenic evidence from ClinVar - ClinVar
PPARG Causal Pathogenic evidence from ClinVar 10622252, 11788685, 12453919, 15254591, 19793595, 22461176, 25157153 ClinVar
AKT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19793595 -
BSCL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CAV1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19793595 -
HNRNPUL2-BSCL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LIPE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Familial partial lipodystrophy, Dunnigan type 2348 LMNA Causal Pathogenic evidence from ClinVar - ClinVar
Familial partial lipodystrophy, K bberling type 79084 LMNA Causal Pathogenic evidence from ClinVar - ClinVar
PLIN1-related familial partial lipodystrophy 280356 PLIN1 Causal Pathogenic evidence from ClinVar - ClinVar
PPARG-related familial partial lipodystrophy 79083 PPARG Causal Pathogenic evidence from ClinVar - ClinVar
Partial lipodystrophy C4316789 AKT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17327441 -