DisGeNET - a database of gene-disease associations

FLRT3, fibronectin leucine rich transmembrane protein 3, 23767

N. diseases: 63; N. variants: 4

Source: ALL

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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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs398124654

1.000

14326491

missense variant

T/C

snv

CUI:	C3808986
Disease:	HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA

0.800

1.000

2013

dbSNP:

rs398124651

1.000

14327217

missense variant

T/C

snv

CUI:	C3808986
Disease:	HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA

0.700

1.000

2013

dbSNP:

rs398124652

1.000

14327076

missense variant

C/A

snv

CUI:	C3808986
Disease:	HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA

0.700

1.000

2013

dbSNP:

rs398124653

1.000

14327302

missense variant

G/T

snv

2.8E-05

2.1E-05

CUI:	C3808986
Disease:	HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA

HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA

0.700

1.000

2013

dbSNP:

rs398124651

1.000

14327217

missense variant

T/C

snv

CUI:	C4016902
Disease:	HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO

HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO

0.700

dbSNP:

rs398124652

1.000

14327076

missense variant

C/A

snv

CUI:	C4016902
Disease:	HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO

HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO

0.700

dbSNP:

rs398124653

1.000

14327302

missense variant

G/T

snv

2.8E-05

2.1E-05

CUI:	C4016902
Disease:	HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO

HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO

0.700