DisGeNET - a database of gene-disease associations

NSMF, NMDA receptor synaptonuclear signaling and neuronal migration factor, 26012

N. diseases: 91; N. variants: 4

Disease: Hypogonadotropic hypogonadism ×

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:	C0271623
Disease:	Hypogonadotropic hypogonadism

Hypogonadotropic hypogonadism

0.110

GeneticVariation

disease

BEFREE

Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

21300340

2011

CUI:	C0271623
Disease:	Hypogonadotropic hypogonadism

Hypogonadotropic hypogonadism

0.110

Biomarker

disease

HPO