Tay-sachs disease

Disease Term Disease ID Gene Symbol Classification References Source
Tay-Sachs Disease C0039373 GM2A Causal Pathogenic evidence from ClinVar 26203402 ClinVar
HEXA Causal Pathogenic evidence from ClinVar 1301189, 1301190, 1301938, 1302612, 1307230, 1322637, 1384323, 1387685, 1483696, 1532289, 1825014, 1827944, 1827945, 1830584, 1831451, 1832817, 1833974, 1837283, 2140574, 2141777, 2144098, 2220809, 2522679, 2837213, 2848800, 2934978, 2961848, 2970528, 2973464, 3362213, 3375249, 3837850, 6236221, 6959123, 7551830, 7717398, 7749419, 7827134, 7837766, 7858168, 7898712, 7951261, 8044648, 8328462, 8444467, 8445615, 8484765, 8490625, 8581357, 8730294, 8757036, 9090529, 9150157, 9222766, 9272736, 9338583, 9375850, 9401008, 9603435, 9851891, 10083731, 10571007, 11161796, 11392526, 11463833, 12027830, 12180151, 12202988, 14566483, 14577003, 14727180, 14972652, 15714079, 16088929, 16352452, 16698036, 16948947, 17015493, 17237499, 18358410, 18490185, 18642377, 19091716, 19858779, 20100466, 20363167, 20672374, 21228398, 21567908, 21796138, 21967858, 22344438, 22390110, 22441121, 22723944, 22789865, 22975760, 23035047, 23852624, 24357685, 24374108, 24498621, 24518553, 24767253, 24940364, 25287655, 25525159, 25557439, 2560 ClinVar
Tay-Sachs Disease, AB Variant C0268275 GM2A Causal Pathogenic evidence from ClinVar 1915858, 8244332, 8900233, 25529582, 26203402, 27604308 ClinVar
Hexosaminidase alpha-Subunit Deficiency (Variant B) C1848922 HEXA Causal Pathogenic evidence from ClinVar 11392526 ClinVar
Tay-Sachs disease, B variant, adult form 309192 HEXA Causal Pathogenic evidence from ClinVar - ClinVar
Tay-Sachs disease, B variant, infantile form 309178 HEXA Causal Pathogenic evidence from ClinVar - ClinVar
Tay-Sachs disease, B variant, juvenile form 309185 HEXA Causal Pathogenic evidence from ClinVar - ClinVar
Tay-Sachs disease, B1 variant 309239 HEXA Causal Pathogenic evidence from ClinVar - ClinVar
Tay-Sachs Disease, Juvenile C1848913 HEXA Causal Pathogenic evidence from ClinVar - ClinVar
TAY-SACHS DISEASE, JUVENILE/ADULT C4310843 HEXA Causal Pathogenic evidence from ClinVar - ClinVar
Tay-Sachs Disease, Variant B1 C1848916 HEXA Causal Pathogenic evidence from ClinVar - ClinVar