Amyloidosis

Disease Term Disease ID Gene Symbol Classification References Source
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3 C4554421 GPNMB Causal Pathogenic evidence from ClinVar 29336782 ClinVar
Amyloidosis, Primary Cutaneous C0268397 IL31RA Causal Pathogenic evidence from ClinVar - ClinVar
OSMR Causal Pathogenic evidence from ClinVar 18179886 ClinVar
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 C4551501 IL31RA Causal Pathogenic evidence from ClinVar 19690585 ClinVar
OSMR Causal Pathogenic evidence from ClinVar 18179886, 19690585, 20507362 ClinVar
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2 C3151404 IL31RA Causal Pathogenic evidence from ClinVar 19690585 ClinVar
Amyloidosis C0002726 OSMR Causal Pathogenic evidence from ClinVar - ClinVar
ACHE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23047022 -
APOC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27297947 -
APOC3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26790392 -
APOE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15993987 -
APP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23541064 -
CCND1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GSN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2176164 -
HMOX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21088618 -
LIG4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
POLA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PSEN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23541064 -
TNFRSF1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TTR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25595224 -
ZDHHC13 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20548961 -
Amyloidosis, familial visceral C0268389 APOA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1502149, 2123470, 3142462, 8208902, 16925563, 27240838, 27604308, 31482740 -
APOA1-AS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
B2M Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22693999 -
FGA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8097946, 23551149, 25427968 -
GSN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 6975851 -
LYZ Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1808634, 8464497, 16523055, 21988333 -
Primary amyloidosis C0268381 CBX7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28025584 -
CCND1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28025584, 28679651 -
DNAH11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28025584 -
LINC00457 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28679651 -
LINC02343 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28679651 -
SMARCD3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28025584 -
Amyloidosis, Familial C0740340 FGA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8097946, 8639778 -
RET Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12864791 -
TTR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17701470, 18326041, 30120737 -
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) C1856974 TSEN54 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18711368, 20952379, 21368912, 21824568, 23177318, 24886362 -
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED C2751492 TTR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1301926, 1335038, 1351039, 1362222, 1436517, 1517749, 1520326, 1520336, 1544214, 1570831, 1656975, 1734866, 1786038, 1932142, 1981182, 1997217, 2046936, 2122246, 2161654, 2349941, 2363717, 2613237, 2840822, 2891727, 3022108, 3030336, 3097057, 3135807, 3722385, 3760189, 3818577, 4079954, 6487335, 6583672, 6651852, 6736244, 7608709, 7643356, 7655883, 7656439, 7850982, 7910950, 7914929, 7923855, 8019560, 8038017, 8081397, 8095302, 8133316, 8257997, 8352764, 8382610, 8428915, 8509786, 8579098, 8721565, 8960746, 8990019, 9017939, 9066351, 9191784, 9196903, 9547003, 9605286, 9733771, 9748014, 9748569, 9771673, 9818054, 10036587, 10071047, 10211412, 10436378, 10439117, 10611950, 10627135, 10694917, 10842705, 10842718, 10882995, 11140845, 11243784, 11385707, 11445644, 11709003, 11752443, 11866053, 11940682, 12000195, 12039669, 12050338, 12403615, 12557757, 12771253, 12779320, 14640030, 14640031, 14695346, 14968122, 14986482, 15110620, 15123043, 15185492, 15214015, 15217993, 15249622, 15377697, 15478468, 15735344, 158 -