DisGeNET - a database of gene-disease associations

MPDU1, mannose-P-dolichol utilization defect 1, 9526

N. diseases: 45; N. variants: 8

Disease: Ichthyoses ×

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0020757
Disease:	Ichthyoses

Ichthyoses

0.110

Biomarker

disease

BEFREE

Severe ichthyosis in MPDU1-CDG.

2018

CUI:	C0020757
Disease:	Ichthyoses

Ichthyoses

0.110

GeneticVariation

disease

CLINVAR