Gangliosidosis

Disease Term Disease ID Gene Symbol Classification References Source
Gangliosidosis GM1 C0085131 GLB1 Causal Pathogenic evidence from ClinVar 1487238, 1907800, 1909089, 1928092, 8198123, 8199591, 8213816, 9203065, 10338095, 10737981, 10839995, 11511921, 12644936, 15365997, 15714521, 15986423, 16314480, 16617000, 16674934, 16941474, 17221873, 17309651, 17664528, 18524657, 18546276, 18571950, 19472408, 20175788, 21214877, 21497194, 21520340, 22234367, 22675082, 23151865, 23337983, 23430499, 23430803, 24777551, 25443580, 25557439, 25936995, 26646981, 27679996, 29160035 ClinVar
TMPPE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8198123, 8199591, 29160035 -
Gangliosidosis, Generalized GM1, Type 1 (disorder) C0268271 GLB1 Causal Pathogenic evidence from ClinVar 1353343, 1487238, 1907800, 1909089, 1928092, 8068159, 8112731, 8198123, 8213816, 8950724, 10338095, 10737981, 10744681, 10839995, 10841810, 11511921, 12644936, 15365997, 15714521, 15791924, 15986423, 16314480, 16538002, 16617000, 16626397, 16674934, 16941474, 17221873, 17309651, 17664528, 19472408, 19644515, 20175788, 21214877, 21497194, 21520340, 22128166, 23151865, 23337983, 23831247, 24737316, 24767253, 24777551, 25326637, 25443580, 25525159, 25557439, 25600812, 25936995, 26108645, 26646981, 27604308, 27679996, 27750150 ClinVar
TMPPE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8198123 -
Gangliosidosis, Generalized GM1, Type 2 C0268272 GLB1 Causal Pathogenic evidence from ClinVar 1353343, 1907800, 1909089, 8068159, 8112731, 8198123, 8213816, 8950724, 10338095, 10737981, 10744681, 10839995, 10841810, 11511921, 12644936, 15365997, 15714521, 16314480, 16617000, 16626397, 16674934, 16941474, 17221873, 17309651, 17664528, 19472408, 19644515, 20175788, 21214877, 21497194, 21520340, 22128166, 23151865, 23337983, 23831247, 24737316, 24767253, 24777551, 25326637, 25443580, 25525159, 25557439, 25600812, 25936995, 26108645, 26646981, 27604308, 27679996, 27750150 ClinVar
TMPPE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Gangliosidosis, Generalized GM1, Type 3 C0268273 GLB1 Causal Pathogenic evidence from ClinVar 1353343, 1907800, 1909089, 8068159, 8112731, 8198123, 8213816, 8950724, 10338095, 10744681, 10839995, 10841810, 11511921, 15365997, 15714521, 15986423, 16314480, 16617000, 16626397, 16674934, 16941474, 17221873, 17309651, 17664528, 19472408, 19644515, 20175788, 21214877, 21497194, 21520340, 22128166, 23151865, 23337983, 23831247, 24737316, 24767253, 24777551, 25326637, 25443580, 25525159, 25557439, 25600812, 25936995, 26108645, 26646981, 27604308, 27679996, 27750150 ClinVar
TMPPE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GM1 gangliosidosis type 2 79256 GLB1 Causal Pathogenic evidence from ClinVar - ClinVar
GM1 gangliosidosis type 3 79257 GLB1 Causal Pathogenic evidence from ClinVar - ClinVar
GM2-GANGLIOSIDOSIS, ADULT C2874270 HEXA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GM2-GANGLIOSIDOSIS, ADULT-ONSET C4310893 HEXA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GM2-GANGLIOSIDOSIS, LATE ONSET C4310891 HEXA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Gm2-Gangliosidosis, Variant B1 C2749283 HEXA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Juvenile GM 2 gangliosidosis C0268276 HEXA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -