DisGeNET - a database of gene-disease associations

ANOS1, anosmin 1, 3730

N. diseases: 166; N. variants: 31

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:

rs137852517

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C1563719
Disease:

Kallmann Syndrome 1

0.800

GeneticVariation

UNIPROT

Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

8504298

1993

dbSNP:

rs1394625082

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C1563719
Disease:

Kallmann Syndrome 1

0.700

GeneticVariation

UNIPROT

Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

8504298

1993

dbSNP:

rs140812865

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C1563719
Disease:

Kallmann Syndrome 1

0.700

GeneticVariation

UNIPROT

Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

8504298

1993

dbSNP:

rs144586521

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C1563719
Disease:

Kallmann Syndrome 1

0.700

GeneticVariation

UNIPROT

Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

8504298

1993

dbSNP:

rs1555893221

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C1563719
Disease:

Kallmann Syndrome 1

0.700

CausalMutation

CLINVAR

Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

8504298

1993

dbSNP:

rs137852515

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C1563719
Disease:

Kallmann Syndrome 1

0.800

GeneticVariation

UNIPROT

Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.

8989261

1997

dbSNP:

rs137852517

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C1563719
Disease:

Kallmann Syndrome 1

0.800

GeneticVariation

UNIPROT

Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.

8989261

1997

dbSNP:

rs1394625082

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C1563719
Disease:

Kallmann Syndrome 1

0.700

GeneticVariation

UNIPROT

Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.

8989261

1997

dbSNP:

rs140812865

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C1563719
Disease:

Kallmann Syndrome 1

0.700

GeneticVariation

UNIPROT

Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.

8989261

1997

dbSNP:

rs144586521

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C1563719
Disease:

Kallmann Syndrome 1

0.700

GeneticVariation

UNIPROT

Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.

8989261

1997

dbSNP:

rs137852515

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C1563719
Disease:

Kallmann Syndrome 1

0.800

GeneticVariation

UNIPROT

A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome.

9589672

1998

dbSNP:

rs137852517

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C1563719
Disease:

Kallmann Syndrome 1

0.800

GeneticVariation

UNIPROT

A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome.

9589672

1998

dbSNP:

rs1394625082

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C1563719
Disease:

Kallmann Syndrome 1

0.700

GeneticVariation

UNIPROT

A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome.

9589672

1998

dbSNP:

rs140812865

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C1563719
Disease:

Kallmann Syndrome 1

0.700

GeneticVariation

UNIPROT

A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome.

9589672

1998

dbSNP:

rs144586521

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C1563719
Disease:

Kallmann Syndrome 1

0.700

GeneticVariation

UNIPROT

A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome.

9589672

1998

dbSNP:

rs1555904596

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C0000772
Disease:

Multiple congenital anomalies

CGCCGCGCAGCA

0.700

CausalMutation

CLINVAR

Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: implications for the developmental anomalies of X chromosome-linked Kallmann syndrome.

10340754

1999

dbSNP:

rs1555904596

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C0432072
Disease:

Dysmorphic features

CGCCGCGCAGCA

0.700

CausalMutation

CLINVAR

10340754

1999

dbSNP:

rs137852515

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C1563719
Disease:

Kallmann Syndrome 1

0.800

GeneticVariation

UNIPROT

The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.

11297579

2001

dbSNP:

rs137852517

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C1563719
Disease:

Kallmann Syndrome 1

0.800

GeneticVariation

UNIPROT

The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.

11297579

2001

dbSNP:

rs1394625082

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C1563719
Disease:

Kallmann Syndrome 1

0.700

GeneticVariation

UNIPROT

The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.

11297579

2001

dbSNP:

rs140812865

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C1563719
Disease:

Kallmann Syndrome 1

0.700

GeneticVariation

UNIPROT

The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.

11297579

2001

dbSNP:

rs144586521

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C1563719
Disease:

Kallmann Syndrome 1

0.700

GeneticVariation

UNIPROT

The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.

11297579

2001

dbSNP:

rs1555904596

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C0000772
Disease:

Multiple congenital anomalies

CGCCGCGCAGCA

0.700

CausalMutation

CLINVAR

Multicystic dysplastic kidney and Kallmann's syndrome: a new association?

11390716

2001

dbSNP:

rs1555904596

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C0432072
Disease:

Dysmorphic features

CGCCGCGCAGCA

0.700

CausalMutation

CLINVAR

Multicystic dysplastic kidney and Kallmann's syndrome: a new association?

11390716

2001

dbSNP:

rs1450703683

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

CUI:	C0026764
Disease:

Multiple Myeloma

0.010

GeneticVariation

BEFREE

Since cell lines may represent useful models for investigating the effects of deregulated FGFR3 mutants in MM, we analysed the expression, activation, signaling pathways and oncogenic potential of three mutants identified so far: the Y373C and K650E in the KMS-11 and OPM-2 cell lines respectively, and the novel G384D mutation here identified in the KMS-18 cell line.

11429702

2001