Gaucher disease

Disease Term Disease ID Gene Symbol Classification References Source
Gaucher Disease, Type 1 C1961835 MSH6 Causal Pathogenic evidence from ClinVar 22493294 ClinVar
ACE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12359135 -
CHIT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17464953 -
FBXO11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22493294 -
GBA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1348297, 1558964, 1704891, 1840477, 1864608, 1972019, 1974409, 2269438, 2508065, 3353383, 6504764, 7475546, 7627184, 7627192, 7916532, 8076951, 8112750, 8118463, 8213821, 8294033, 8294487, 8432537, 8544197, 8790604, 8829654, 8829663, 8889591, 8937765, 9061570, 9101438, 9153297, 9182788, 9217217, 9240741, 9279145, 9516376, 9554454, 9554746, 9650766, 9683600, 10206680, 10340647, 10352942, 10360404, 10447266, 10744424, 10757640, 10796875, 11359469, 11933202, 11992489, 12204005, 12359135, 12595585, 12972024, 15146461, 15292921, 15331184, 15605411, 15813845, 15826241, 15916907, 15954102, 16293621, 17395504, 17620502, 18332251, 18338393, 18586596, 18979180, 19816973, 19846850, 20575041, 20729108, 21098288, 21250698, 21257328, 21370884, 22451204, 22493294, 22592100, 22658918, 23588557, 23699752, 24022302, 24434810, 24482953, 24522292, 24577513, 24756352, 25127542, 25456120, 25653295, 26027833, 26096741, 26868973, 26905200, 27604308, 27717005, 27735925, 29527153, 30712880 -
SCARB2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21796727 -
SNCA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19576930 -
Atypical Gaucher disease due to saposin C deficiency 309252 PSAP Causal Pathogenic evidence from ClinVar - ClinVar
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY C1864651 PSAP Causal Pathogenic evidence from ClinVar 2060627, 10682309, 17919309, 27604308 ClinVar
Gaucher Disease C0017205 ACE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12359135 -
CHIT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17464953 -
CLN8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22388998 -
GBA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1558964, 1864608, 1961718, 2508065, 6504764, 7500895, 7981693, 8294487, 8432537, 8774051, 8790604, 8889578, 9101438, 9153297, 9279145, 10079102, 10649495, 10679038, 10757640, 10796875, 11933202, 12359135, 12587096, 12791040, 14757438, 15146461, 15605411, 15813845, 16086325, 16185900, 16185907, 16293621, 16329099, 17059888, 17395504, 17574891, 17689991, 18338393, 20004867, 20729108, 20846888, 20947659, 21056933, 21087600, 21250698, 21370884, 21704274, 21831682, 21982627, 22118943, 22234757, 22375149, 22658918, 23430543, 23430873, 23588557, 23719189, 24022302, 24685312, 25249066, 25829804, 26027833, 26220978, 27008851, 27123476, 27222815, 27397011, 27604308, 27865684, 30328501, 30712880 -
SNCA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19576930 -
Gaucher Disease, Type 2 (disorder) C0268250 ACE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12359135 -
CHIT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17464953 -
GBA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1840477, 6504764, 7627192, 9040001, 9101438, 9279145, 9554454, 9637431, 9851895, 10757640, 10796875, 12359135, 16293621, 20575041, 21098288, 21250698, 21370884, 24022302, 26027833, 27604308, 30712880 -
SNCA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19576930 -
Gaucher Disease, Type 3 (disorder) C0268251 ACE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12359135 -
CHIT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17464953 -
GBA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1840477, 6504764, 8780099, 9040001, 9101438, 10757640, 11933202, 12359135, 20575041, 21250698, 21370884, 24022302, 26027833, 27604308, 30712880 -
SNCA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19576930 -
Gaucher disease type 1 77259 GBA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SCARB2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Gaucher disease type 2 77260 GBA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Gaucher disease type 3 77261 GBA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GAUCHER DISEASE, PERINATAL LETHAL C1842704 GBA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 6504764, 9040001, 10352942, 10649495, 11933202, 15813845, 20946052, 27604308 -
Gaucher Disease, Type Iiic C1856476 GBA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 6504764, 9040001, 10636167, 15813845, 20575041, 27604308 -
Gaucher-like disease C2931585 GBA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10636167 -