DisGeNET - a database of gene-disease associations

NSD1, nuclear receptor binding SET domain protein 1, 64324

N. diseases: 247; N. variants: 271

Disease: Chromosome 5, monosomy 5q35 ×

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:	C2931574
Disease:	Chromosome 5, monosomy 5q35

Chromosome 5, monosomy 5q35

0.300

ChromosomalRearrangement

disease

ORPHANET

Chromosome 5q subtelomeric deletion syndrome.

2007