IMPDH2V
MCID: IMP012
MIFTS: 8

Impdh2 Enzyme Activity, Variation in (IMPDH2V)

Categories: Genetic diseases

Aliases & Classifications for Impdh2 Enzyme Activity, Variation in

MalaCards integrated aliases for Impdh2 Enzyme Activity, Variation in:

Name: Impdh2 Enzyme Activity, Variation in 57 29 6
Activity, Enzyme, Impdh2, Variation in 39
Impdh2v 57

Classifications:



External Ids:

OMIM® 57 617995

Summaries for Impdh2 Enzyme Activity, Variation in

MalaCards based summary : Impdh2 Enzyme Activity, Variation in, is also known as activity, enzyme, impdh2, variation in. An important gene associated with Impdh2 Enzyme Activity, Variation in is IMPDH2 (Inosine Monophosphate Dehydrogenase 2).

More information from OMIM: 617995

Related Diseases for Impdh2 Enzyme Activity, Variation in

Symptoms & Phenotypes for Impdh2 Enzyme Activity, Variation in

Clinical features from OMIM®:

617995 (Updated 20-May-2021)

Drugs & Therapeutics for Impdh2 Enzyme Activity, Variation in

Search Clinical Trials , NIH Clinical Center for Impdh2 Enzyme Activity, Variation in

Genetic Tests for Impdh2 Enzyme Activity, Variation in

Genetic tests related to Impdh2 Enzyme Activity, Variation in:

# Genetic test Affiliating Genes
1 Impdh2 Enzyme Activity, Variation in 29 IMPDH2

Anatomical Context for Impdh2 Enzyme Activity, Variation in

Publications for Impdh2 Enzyme Activity, Variation in

Articles related to Impdh2 Enzyme Activity, Variation in:

# Title Authors PMID Year
1
A novel variant L263F in human inosine 5'-monophosphate dehydrogenase 2 is associated with diminished enzyme activity. 6 57
17496727 2007

Variations for Impdh2 Enzyme Activity, Variation in

ClinVar genetic disease variations for Impdh2 Enzyme Activity, Variation in:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IMPDH2 NM_000884.3(IMPDH2):c.787C>T (p.Leu263Phe) SNV Affects 14833 rs121434586 GRCh37: 3:49064152-49064152
GRCh38: 3:49026719-49026719

Expression for Impdh2 Enzyme Activity, Variation in

Search GEO for disease gene expression data for Impdh2 Enzyme Activity, Variation in.

Pathways for Impdh2 Enzyme Activity, Variation in

GO Terms for Impdh2 Enzyme Activity, Variation in

Sources for Impdh2 Enzyme Activity, Variation in

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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