MCID: CRD146
MIFTS: 11

Ceroid Lipofuscinosis, Neuronal, 12 malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases categories
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Summaries for Ceroid Lipofuscinosis, Neuronal, 12

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MalaCards based summary: Ceroid Lipofuscinosis, Neuronal, 12 An important gene associated with Ceroid Lipofuscinosis, Neuronal, 12 is ATP13A2 (ATPase type 13A2).

Description from OMIM:46 606693

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 12

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Ceroid Lipofuscinosis, Neuronal, 12, Aliases & Descriptions:

Name: Ceroid Lipofuscinosis, Neuronal, 12 46


Classifications:



Related Diseases for Ceroid Lipofuscinosis, Neuronal, 12

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Symptoms for Ceroid Lipofuscinosis, Neuronal, 12

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Clinical features from OMIM:

606693

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 12

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Drug clinical trials:

Search ClinicalTrials for Ceroid Lipofuscinosis, Neuronal, 12

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 12

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 12

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Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 12

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Animal Models for Ceroid Lipofuscinosis, Neuronal, 12 or affiliated genes

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Publications for Ceroid Lipofuscinosis, Neuronal, 12

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Variations for Ceroid Lipofuscinosis, Neuronal, 12

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UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 12:

64
id Symbol AA change Variation ID SNP ID
1ATP13A2p.Gly504ArgVAR_058455rs121918227
2ATP13A2p.Phe182LeuVAR_066019
3ATP13A2p.Gly877ArgVAR_066020
4ATP13A2p.Leu1059ArgVAR_066021
5ATP13A2p.Met854ArgVAR_070194

Clinvar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 12:

6
id Gene Name Type Significance SNP ID Assembly Location
1ATP13A2ATP13A2, 1-BP DEL, 3057CdeletionPathogenic
2ATP13A2ATP13A2, IVS13, G-A, +5single nucleotide variantPathogenic
3ATP13A2ATP13A2, 22-BP DUPduplicationPathogenic
4ATP13A2NM_022089.3(ATP13A2): c.1510G> C (p.Gly504Arg)single nucleotide variantPathogenicrs121918227GRCh37Chr 1, 17322503: 17322503
5ATP13A2ATP13A2, 2-BP INS, 1103GAinsertionPathogenic
6ATP13A2NM_022089.3(ATP13A2): c.2552_2553delTT (p.Phe851Cysfs)deletionPathogenicGRCh37Chr 1, 17316242: 17316243
7ATP13A2NM_001141974.2(ATP13A2): c.2429T> G (p.Met810Arg)single nucleotide variantPathogenicGRCh37Chr 1, 17316234: 17316234
8ATP13A2ATP13A2, GLY877ARGsingle nucleotide variantPathogenic

Expression for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 12

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Expression patterns in normal tissues for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 12

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Pathways for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 12

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Compounds for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 12

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GO Terms for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 12

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Products for genes affiliated with Ceroid Lipofuscinosis, Neuronal, 12

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  • Antibodies
  • Proteins
  • Lysates

Sources for Ceroid Lipofuscinosis, Neuronal, 12

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet