DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Osteopetrosis, Autosomal Recessive 5 ×

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:

rs119460973

rs119460973

OSTM1

1.000

0.040

6

108074616

stop gained

A/C;T

snv

6.0E-06

CUI:	C1968603
Disease:	Osteopetrosis, Autosomal Recessive 5

Osteopetrosis, Autosomal Recessive 5

0.700

dbSNP:

rs1554250938

rs1554250938

OSTM1

1.000

0.040

6

108051026

splice region variant

C/A

snv

CUI:	C1968603
Disease:	Osteopetrosis, Autosomal Recessive 5

Osteopetrosis, Autosomal Recessive 5

0.700

dbSNP:

rs1562370077

rs1562370077

OSTM1

1.000

0.040

6

108049248

splice region variant

C/T

snv

CUI:	C1968603
Disease:	Osteopetrosis, Autosomal Recessive 5

Osteopetrosis, Autosomal Recessive 5

0.700

dbSNP:

rs794727287

rs794727287

OSTM1

1.000

0.040

6

108064286

frameshift variant

CT/-

delins

CUI:	C1968603
Disease:	Osteopetrosis, Autosomal Recessive 5

Osteopetrosis, Autosomal Recessive 5

0.700