MCID: GM2004
MIFTS: 10

Gm2-Gangliosidosis, Several Forms malady

Summaries for Gm2-Gangliosidosis, Several Forms

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46OMIM, 32MalaCards
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MalaCards: Gm2-Gangliosidosis, Several Forms An important gene associated with Gm2-Gangliosidosis, Several Forms is HEXA (hexosaminidase A (alpha polypeptide)).

Description from OMIM:46 272800

Aliases & Classifications for Gm2-Gangliosidosis, Several Forms

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46OMIM
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Aliases & Descriptions:

gm2-gangliosidosis, several forms 46


Related Diseases for Gm2-Gangliosidosis, Several Forms

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Clinical Features for Gm2-Gangliosidosis, Several Forms

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46OMIM
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Clinical features from OMIM:

272800

Drugs & Therapeutics for Gm2-Gangliosidosis, Several Forms

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Gm2-Gangliosidosis, Several Forms

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Anatomical Context for Gm2-Gangliosidosis, Several Forms

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Animal Models for Gm2-Gangliosidosis, Several Forms or affiliated genes

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Publications for Gm2-Gangliosidosis, Several Forms

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Genetic Variations for Gm2-Gangliosidosis, Several Forms

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Gm2-Gangliosidosis, Several Forms:

62 (show all 44)
id Symbol AA change Variation ID SNP ID
1HEXAp.Pro25SerVAR_003202
2HEXAp.Leu39ArgVAR_003203
3HEXAp.Leu127ArgVAR_003204
4HEXAp.Arg166GlyVAR_003205
5HEXAp.Arg170GlnVAR_003206
6HEXAp.Arg170TrpVAR_003207
7HEXAp.Arg178CysVAR_003208
8HEXAp.Arg178HisVAR_003209
9HEXAp.Arg178LeuVAR_003210rs28941770
10HEXAp.Tyr180HisVAR_003211rs28941771
11HEXAp.Val192LeuVAR_003212
12HEXAp.Asn196SerVAR_003213
13HEXAp.Lys197ThrVAR_003214
14HEXAp.Val200MetVAR_003215rs1800429
15HEXAp.His204ArgVAR_003216
16HEXAp.Ser210PheVAR_003217
17HEXAp.Phe211SerVAR_003218
18HEXAp.Gly250AspVAR_003221
19HEXAp.Gly250SerVAR_003222
20HEXAp.Arg252HisVAR_003223
21HEXAp.Asp258HisVAR_003224
22HEXAp.Gly269SerVAR_003225
23HEXAp.Ser279ProVAR_003226
24HEXAp.Met301ArgVAR_003227
25HEXAp.Ile335PheVAR_003230
26HEXAp.Val391MetVAR_003232
27HEXAp.Trp420CysVAR_003234
28HEXAp.Gly454SerVAR_003236
29HEXAp.Gly455ArgVAR_003237
30HEXAp.Cys458TyrVAR_003238
31HEXAp.Trp474CysVAR_003239
32HEXAp.Glu482LysVAR_003240
33HEXAp.Leu484GlnVAR_003241
34HEXAp.Trp485ArgVAR_003242
35HEXAp.Arg499CysVAR_003243
36HEXAp.Arg499HisVAR_003244
37HEXAp.Arg504CysVAR_003245rs28942071
38HEXAp.Arg504HisVAR_003246
39HEXAp.Arg252LeuVAR_017188
40HEXAp.Asn295SerVAR_017189rs199578185
41HEXAp.Leu127PheVAR_022439
42HEXAp.Ser226PheVAR_022440
43HEXAp.Gly269AspVAR_022441
44HEXAp.Asp314ValVAR_022442

Expression for genes affiliated with Gm2-Gangliosidosis, Several Forms

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gm2-Gangliosidosis, Several Forms

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Pathways for genes affiliated with Gm2-Gangliosidosis, Several Forms

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Compounds for genes affiliated with Gm2-Gangliosidosis, Several Forms

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GO Terms for genes affiliated with Gm2-Gangliosidosis, Several Forms

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Products for genes affiliated with Gm2-Gangliosidosis, Several Forms

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gm2-Gangliosidosis, Several Forms

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet