DisGeNET - a database of gene-disease associations

Source: HPO

Disease: Short femoral neck ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	84068
Gene Symbol:	SLC10A7

SLC10A7

solute carrier family 10 member 7

0.711

0.269

2.0E-05

CUI:	C1836184
Disease:	Short femoral neck

Short femoral neck

phenotype

0.100

None

0

Entrez Id:	91252
Gene Symbol:	SLC39A13

SLC39A13

solute carrier family 39 member 13

0.666

0.538

2.5E-03

CUI:	C1836184
Disease:	Short femoral neck

Short femoral neck

phenotype

0.100

None

0

Entrez Id:	6399
Gene Symbol:	TRAPPC2

TRAPPC2

trafficking protein particle complex 2

0.722

0.308

2.4E-03

CUI:	C1836184
Disease:	Short femoral neck

Short femoral neck

phenotype

0.100

None

0

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

transient receptor potential cation channel subfamily V member 4

0.457

0.808

2.2E-16

CUI:	C1836184
Disease:	Short femoral neck

Short femoral neck

phenotype

0.100

None

0

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

transmembrane protein 67

0.512

0.769

2.1E-24

CUI:	C1836184
Disease:	Short femoral neck

Short femoral neck

phenotype

0.100

None

0

Entrez Id:	64131
Gene Symbol:	XYLT1

XYLT1

xylosyltransferase 1

0.581

0.731

0.92

CUI:	C1836184
Disease:	Short femoral neck

Short femoral neck

phenotype

0.100

None

0