MCID: KLL010
MIFTS: 8

Kallikrein, Decreased Urinary Activity of

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Kallikrein, Decreased Urinary Activity of

MalaCards integrated aliases for Kallikrein, Decreased Urinary Activity of:

Name: Kallikrein, Decreased Urinary Activity of 58 30 6 41

Classifications:



External Ids:

OMIM 58 615953

Summaries for Kallikrein, Decreased Urinary Activity of

MalaCards based summary : Kallikrein, Decreased Urinary Activity of An important gene associated with Kallikrein, Decreased Urinary Activity of is KLK1 (Kallikrein 1).

Description from OMIM: 615953

Related Diseases for Kallikrein, Decreased Urinary Activity of

Symptoms & Phenotypes for Kallikrein, Decreased Urinary Activity of

Clinical features from OMIM:

615953

Drugs & Therapeutics for Kallikrein, Decreased Urinary Activity of

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Genetic Tests for Kallikrein, Decreased Urinary Activity of

Genetic tests related to Kallikrein, Decreased Urinary Activity of:

# Genetic test Affiliating Genes
1 Kallikrein, Decreased Urinary Activity of 30 KLK1

Anatomical Context for Kallikrein, Decreased Urinary Activity of

Publications for Kallikrein, Decreased Urinary Activity of

Articles related to Kallikrein, Decreased Urinary Activity of:

# Title Authors Year
1
Arterial and renal consequences of partial genetic deficiency in tissue kallikrein activity in humans. ( 15765151 )
2005
2
Loss-of-function polymorphism of the human kallikrein gene with reduced urinary kallikrein activity. ( 11912256 )
2002

Variations for Kallikrein, Decreased Urinary Activity of

ClinVar genetic disease variations for Kallikrein, Decreased Urinary Activity of:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KLK1 NM_002257.3(KLK1): c.230G> A (p.Arg77His) single nucleotide variant Affects rs5515 GRCh37 Chromosome 19, 51323676: 51323676
2 KLK1 NM_002257.3(KLK1): c.230G> A (p.Arg77His) single nucleotide variant Affects rs5515 GRCh38 Chromosome 19, 50820420: 50820420

Expression for Kallikrein, Decreased Urinary Activity of

Search GEO for disease gene expression data for Kallikrein, Decreased Urinary Activity of.

Pathways for Kallikrein, Decreased Urinary Activity of

GO Terms for Kallikrein, Decreased Urinary Activity of

Sources for Kallikrein, Decreased Urinary Activity of

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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33 HPO
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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
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