DisGeNET - a database of gene-disease associations

Deficiency of sedoheptulokinase, C1291373

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	23729
Gene Symbol:	SHPK

SHPK

0.600

Biomarker

disease

GENOMICS_ENGLAND

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

27604308

2016

Entrez Id:	23729
Gene Symbol:	SHPK

SHPK

0.600

GermlineCausalMutation

disease

ORPHANET

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

25647543

2015

Entrez Id:	23729
Gene Symbol:	SHPK

SHPK

0.600

GeneticVariation

disease

CLINVAR