Hyperoxaluria

Disease Term Disease ID Gene Symbol Classification References Source
Hyperoxaluria C0020500 AGXT Causal Pathogenic evidence from ClinVar - ClinVar
GRHPR Causal Pathogenic evidence from ClinVar - ClinVar
HOGA1 Causal Pathogenic evidence from ClinVar - ClinVar
CCL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16284884 -
CCL5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16284884 -
IL6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16284884 -
NFKB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16284884 -
PEX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SLC26A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20160351 -
Primary Hyperoxaluria C0020501 AGXT Causal Pathogenic evidence from ClinVar 1703535, 10960483, 12777626, 15327387, 15365967, 15802217, 17460142, 20713123, 22529745, 22844106, 24934730, 24988064, 24990153, 25644115, 26252291, 28202121, 28619084 ClinVar
GRHPR Causal Pathogenic evidence from ClinVar 24116921 ClinVar
HOGA1 Causal Pathogenic evidence from ClinVar - ClinVar
Primary hyperoxaluria type 1 93598 AGXT Causal Pathogenic evidence from ClinVar - ClinVar
Primary hyperoxaluria, type I C0268164 AGXT Causal Pathogenic evidence from ClinVar 1301173, 1349575, 1703535, 1879825, 2039493, 4701948, 8101040, 9002528, 9192270, 9578076, 9604803, 10394939, 10453743, 10541294, 10862087, 10960483, 11562405, 11708860, 12559847, 12768081, 12777626, 12899834, 15110324, 15253729, 15327387, 15356974, 15365967, 15464418, 15802217, 15849466, 15961945, 15961946, 15963748, 16208537, 16850020, 16912707, 16971151, 17460142, 17495019, 17696873, 18282470, 18448374, 18782763, 18810341, 19479957, 20016466, 20133649, 20544097, 20573805, 21488232, 21705122, 22018727, 22685354, 22844106, 22923379, 23229545, 23430879, 23439734, 23551880, 23589421, 23810941, 23861508, 24012869, 24055001, 24385516, 24718375, 24934730, 24988064, 25363903, 25629080, 25644115, 26149463, 27659337, 27915025, 27935012 ClinVar
AGK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Primary hyperoxaluria type 2 93599, C0268165 GRHPR Causal Pathogenic evidence from ClinVar 10484776, 11030416, 11477177, 12185464, 14635115, 15327387, 16306119, 17510093, 18560364, 24116921, 25525159, 25629080, 25644115, 27604308 ClinVar
Primary hyperoxaluria type 3 93600 HOGA1 Causal Pathogenic evidence from ClinVar - ClinVar
Primary hyperoxaluria type III C3150878 HOGA1 Causal Pathogenic evidence from ClinVar 20797690, 21896830, 21998747, 22391140, 22771891, 22781098, 22851625, 24563386, 25629080, 25644115, 25972204, 27096395, 27604308, 28711958 ClinVar
Oxalosis C1298681 CCL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16284884 -
CCL5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16284884 -
IL6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16284884 -
NFKB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16284884 -
SLC26A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20160351 -