Hereditary pancreatitis

Disease Term Disease ID Gene Symbol Classification References Source
Hereditary chronic pancreatitis 676 CFTR Causal Pathogenic evidence from ClinVar - ClinVar
CTRC Causal Pathogenic evidence from ClinVar - ClinVar
PRSS1 Causal Pathogenic evidence from ClinVar - ClinVar
SPINK1 Causal Pathogenic evidence from ClinVar - ClinVar
CASR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CPA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PRSS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Hereditary pancreatitis C0238339 CFTR Causal Pathogenic evidence from ClinVar 9934970, 20977904, 22427236, 22572128 ClinVar
CTRC Causal Pathogenic evidence from ClinVar 18059268, 18172691, 19453252, 20625975, 22427236, 22539344, 22580415, 22942235, 23601753, 25569187, 28502372 ClinVar
PRSS1 Causal Pathogenic evidence from ClinVar 8841182, 9322498, 9633818, 10204851, 10381903, 10801865, 10872414, 10930381, 11073545, 11097832, 11260229, 11719509, 11734061, 11748242, 11788572, 11866271, 14695529, 15017610, 15028953, 15776435, 16036133, 16505482, 16632094, 16791840, 16954950, 17003641, 17072318, 17204147, 17568390, 18272034, 18755888, 19453252, 19454815, 19951905, 20502448, 21415673, 21907651, 22539344, 22749696, 23455445, 23601753, 23686146, 23864476, 24002981, 24413785, 24458023, 24780743, 25383785, 30420730 ClinVar
SPINK1 Causal Pathogenic evidence from ClinVar 10691414, 10835640, 12483248, 12974284, 14722925, 15980664, 16849362, 17274009, 17466744, 17525091, 17568390, 18414673, 18617776, 18978175, 19299380, 19888199, 22572128, 23017645, 23741238, 23951356, 26632706, 27535533, 28546062, 28556356, 28984793 ClinVar
CASR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26166472 -
CPA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23955596, 24522117, 28650851 -
PRSS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16699518, 18461367 -