Chilblain lupus erythematosus

Disease Term Disease ID Gene Symbol Classification References Source
Chilblain lupus 1 C0024145 TREX1 Causal Pathogenic evidence from ClinVar 16845398, 17293595, 17357087, 17440703, 17660818, 17660820, 17846997, 18805785, 20131292, 20799324, 20871604, 21270825, 21937424, 22829693, 23881107, 23989343, 24300241, 25582466, 25848017, 26182405, 26691497, 27391121, 27566796, 28089741, 28750028 ClinVar
ATRIP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16845398, 17293595, 17440703, 17660820, 17846997, 18805785, 20131292, 20799324, 20871604, 21270825, 21937424, 22829693, 23881107, 23989343, 24300241, 25582466, 25848017, 26182405, 26691497, 27391121, 28089741, 28750028 -
SAMHD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27566796 -
STING1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27566796 -
Familial Chilblain lupus 481662 TREX1 Causal Pathogenic evidence from ClinVar - ClinVar
SAMHD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
STING1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CHILBLAIN LUPUS 2 C3280721 SAMHD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19525956, 21204240 -