DisGeNET - a database of gene-disease associations

FREM1, FRAS1 related extracellular matrix 1, 158326

N. diseases: 65; N. variants: 11

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs281875281

Entrez Id:	158326;105375979
Gene Symbol:	FREM1;LOC105375979

FREM1;LOC105375979

CUI:	C1855425
Disease:

Marles Greenberg Persaud syndrome

0.800

GeneticVariation

UNIPROT

Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.

28111185

2017

dbSNP:

rs281875281

Entrez Id:	158326;105375979
Gene Symbol:	FREM1;LOC105375979

FREM1;LOC105375979

CUI:	C1855425
Disease:

Marles Greenberg Persaud syndrome

0.800

GeneticVariation

CLINVAR

MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features.

23112756

2012

dbSNP:

rs184394424

Entrez Id:	158326
Gene Symbol:	FREM1

FREM1

CUI:	C3280974
Disease:

TRIGONOCEPHALY 2

0.800

GeneticVariation

UNIPROT

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

21931569

2011

dbSNP:

rs281875280

Entrez Id:	158326
Gene Symbol:	FREM1

FREM1

CUI:	C3280974
Disease:

TRIGONOCEPHALY 2

0.800

GeneticVariation

UNIPROT

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

21931569

2011

dbSNP:

rs281875281

Entrez Id:	158326;105375979
Gene Symbol:	FREM1;LOC105375979

FREM1;LOC105375979

CUI:	C1855425
Disease:

Marles Greenberg Persaud syndrome

0.800

GeneticVariation

CLINVAR

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

21507892

2011

dbSNP:

rs281875281

Entrez Id:	158326;105375979
Gene Symbol:	FREM1;LOC105375979

FREM1;LOC105375979

CUI:	C1855425
Disease:

Marles Greenberg Persaud syndrome

0.800

GeneticVariation

UNIPROT

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

21507892

2011

dbSNP:

rs121912609

Entrez Id:	158326
Gene Symbol:	FREM1

FREM1

CUI:	C2750433
Disease:

Bifid Nose With Or Without Anorectal And Renal Anomalies

0.800

GeneticVariation

UNIPROT

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

19732862

2009

dbSNP:

rs121912610

Entrez Id:	158326
Gene Symbol:	FREM1

FREM1

CUI:	C2750433
Disease:

Bifid Nose With Or Without Anorectal And Renal Anomalies

0.800

GeneticVariation

UNIPROT

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

19732862

2009

dbSNP:

rs281875281

Entrez Id:	158326;105375979
Gene Symbol:	FREM1;LOC105375979

FREM1;LOC105375979

CUI:	C1855425
Disease:

Marles Greenberg Persaud syndrome

0.800

GeneticVariation

CLINVAR

Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.

17352387

2007

dbSNP:

rs121912609

Entrez Id:	158326
Gene Symbol:	FREM1

FREM1

CUI:	C2750433
Disease:

Bifid Nose With Or Without Anorectal And Renal Anomalies

0.800

CausalMutation

CLINVAR

dbSNP:

rs121912610

Entrez Id:	158326
Gene Symbol:	FREM1

FREM1

CUI:	C2750433
Disease:

Bifid Nose With Or Without Anorectal And Renal Anomalies

0.800

CausalMutation

CLINVAR

dbSNP:

rs184394424

Entrez Id:	158326
Gene Symbol:	FREM1

FREM1

CUI:	C3280974
Disease:

TRIGONOCEPHALY 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs281875280

Entrez Id:	158326
Gene Symbol:	FREM1

FREM1

CUI:	C3280974
Disease:

TRIGONOCEPHALY 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs281875281

Entrez Id:	158326;105375979
Gene Symbol:	FREM1;LOC105375979

FREM1;LOC105375979

CUI:	C1855425
Disease:

Marles Greenberg Persaud syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs1048070

Entrez Id:	158326
Gene Symbol:	FREM1

FREM1

CUI:	C0007222
Disease:

Cardiovascular Diseases

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs10733289

Entrez Id:	158326
Gene Symbol:	FREM1

FREM1

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs281875282

Entrez Id:	158326
Gene Symbol:	FREM1

FREM1

CUI:	C1855425
Disease:

Marles Greenberg Persaud syndrome

0.700

GeneticVariation

UNIPROT

Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.

28111185

2017

dbSNP:

rs200861231

Entrez Id:	158326
Gene Symbol:	FREM1

FREM1

CUI:	C0578022
Disease:

Finding of body mass index

0.700

GeneticVariation

GWASDB

Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

23555315

2013

dbSNP:

rs200861231

Entrez Id:	158326
Gene Symbol:	FREM1

FREM1

CUI:	C0005893
Disease:

Body mass index procedure

0.700

GeneticVariation

GWASDB

Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

23555315

2013

dbSNP:

rs281875282

Entrez Id:	158326
Gene Symbol:	FREM1

FREM1

CUI:	C1855425
Disease:

Marles Greenberg Persaud syndrome

0.700

GeneticVariation

UNIPROT

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

21507892

2011

dbSNP:

rs1338652795

Entrez Id:	158326
Gene Symbol:	FREM1

FREM1

CUI:	C1855425
Disease:

Marles Greenberg Persaud syndrome

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1552896

Entrez Id:	158326
Gene Symbol:	FREM1

FREM1

CUI:	C0019693
Disease:

HIV Infections

0.010

GeneticVariation

BEFREE

The significant association of rs1552896 with an HIV-resistant phenotype, together with the expression profile of FREM1 in tissues relevant to HIV infection, suggests that FREM1 is a potentially novel candidate gene for resistance to HIV infection.

22915813

2012