IMPDH2V
MCID: IMP012
MIFTS: 7

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 58 30 6
Impdh2v 58

Classifications:



External Ids:

OMIM 58 617995

Summaries for Impdh2 Enzyme Activity, Variation in

MalaCards based summary : Impdh2 Enzyme Activity, Variation in, is also known as impdh2v. An important gene associated with Impdh2 Enzyme Activity, Variation in is IMPDH2 (Inosine Monophosphate Dehydrogenase 2).

Description from OMIM: 617995

Related Diseases for Impdh2 Enzyme Activity, Variation in

Symptoms & Phenotypes for Impdh2 Enzyme Activity, Variation in

Clinical features from OMIM:

617995

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 30 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 Year
1
A novel variant L263F in human inosine 5'-monophosphate dehydrogenase 2 is associated with diminished enzyme activity. ( 17496727 )
2007

Variations for Impdh2 Enzyme Activity, Variation in

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IMPDH2 NM_000884.2(IMPDH2): c.787C> T (p.Leu263Phe) single nucleotide variant Affects rs121434586 GRCh37 Chromosome 3, 49064152: 49064152
2 IMPDH2 NM_000884.2(IMPDH2): c.787C> T (p.Leu263Phe) single nucleotide variant Affects rs121434586 GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....