DisGeNET - a database of gene-disease associations

LRSAM1, leucine rich repeat and sterile alpha motif containing 1, 90678

N. diseases: 63; N. variants: 14

Disease: Hirschsprung Disease ×

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:	C0019569
Disease:	Hirschsprung Disease

Hirschsprung Disease

0.020

AlteredExpression

disease

BEFREE

Upregulation of miR-431-5p and downregulation of LRSAM1 were found in ENCCs of HSCR.

31037734

2019

CUI:	C0019569
Disease:	Hirschsprung Disease

Hirschsprung Disease

0.020

Biomarker

disease

BEFREE

MicroRNA-939 inhibits cell proliferation via targeting LRSAM1 in Hirschsprung's disease.

29253842

2017