DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Linear atrophy ×

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:

rs113422242

rs113422242

FBN1

0.763

0.240

15

48510065

stop gained

G/A

snv

7.0E-06

CUI:	C0152459
Disease:	Linear atrophy

Linear atrophy

0.700

dbSNP:

rs1232880706

rs1232880706

FBN1

0.689

0.440

15

48526247

stop gained

C/A;T

snv

CUI:	C0152459
Disease:	Linear atrophy

Linear atrophy

0.700

dbSNP:

rs137854461

rs137854461

FBN1

0.790

0.280

15

48437026

missense variant

T/C

snv

CUI:	C0152459
Disease:	Linear atrophy

Linear atrophy

0.700

dbSNP:

rs137854466

rs137854466

FBN1

0.724

0.320

15

48411280

stop gained

G/A;C

snv

4.0E-05; 8.0E-06

CUI:	C0152459
Disease:	Linear atrophy

Linear atrophy

0.700

dbSNP:

rs1555393889

rs1555393889

FBN1

0.851

0.200

15

48415758

missense variant

T/A;C

snv

CUI:	C0152459
Disease:	Linear atrophy

Linear atrophy

0.700

dbSNP:

rs80359473

rs80359473

BRCA2

0.807

0.400

13

32339288

frameshift variant

GAAA/-

delins

CUI:	C0152459
Disease:	Linear atrophy

Linear atrophy

0.700