Gaucher disease

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