DisGeNET - a database of gene-disease associations

Source: CLINVAR

Gene: FBN1 ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C4707243
Disease:	Familial thoracic aortic aneurysm and aortic dissection

Familial thoracic aortic aneurysm and aortic dissection

0.700

1.000

2001

2011

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.700

1.000

2001

2011

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C0158731
Disease:	Congenital pectus carinatum

Congenital pectus carinatum

0.700

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C1857482
Disease:	Slender finger

Slender finger

0.700

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C4021959
Disease:	Round ear

Round ear

0.700

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C0009081
Disease:	Congenital clubfoot

Congenital clubfoot

0.700

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C0086437
Disease:	Joint laxity

Joint laxity

0.700

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C0015230
Disease:	Exanthema

Exanthema

0.700

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

0.700

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C0004352
Disease:	Autistic Disorder

Autistic Disorder

0.700

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C1869115
Disease:	Weill-Marchesani Syndrome, Autosomal Dominant

Weill-Marchesani Syndrome, Autosomal Dominant

0.700

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C1849075
Disease:	Relative macrocephaly

Relative macrocephaly

0.700

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C4310796
Disease:	MARFAN LIPODYSTROPHY SYNDROME

MARFAN LIPODYSTROPHY SYNDROME

0.700

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C0018808
Disease:	Heart murmur

Heart murmur

0.700

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C1858556
Disease:	OVERLAP CONNECTIVE TISSUE DISEASE

OVERLAP CONNECTIVE TISSUE DISEASE

0.700

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C0333068
Disease:	Flexion contracture

Flexion contracture

0.700

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C0456070
Disease:	Growth delay

Growth delay

0.700

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C3280054
Disease:	GELEOPHYSIC DYSPLASIA 2

GELEOPHYSIC DYSPLASIA 2

0.700

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C4025148
Disease:	Hyperextensible thumb

Hyperextensible thumb

0.700

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C0019322
Disease:	Umbilical hernia

Umbilical hernia

0.700

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C0265287
Disease:	Acromicric Dysplasia

Acromicric Dysplasia

0.700

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C1142533
Disease:	Smooth philtrum

Smooth philtrum

0.700

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C1858085
Disease:	Malar flattening

Malar flattening

0.700

dbSNP:

rs113871094

FBN1

0.683

0.320

48465820

stop gained

G/A

snv

CUI:	C3541518
Disease:	ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT

ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT

0.700