DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs1352010373 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0423798
Disease:	Increased tendency to bruise

Increased tendency to bruise

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0038379
Disease:	Strabismus

Strabismus

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C4021875
Disease:	Tall chin

Tall chin

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0029423
Disease:	Cartilaginous exostosis

Cartilaginous exostosis

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C1839816
Disease:	Long neck

Long neck

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0151526
Disease:	Premature Birth

Premature Birth

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0277959
Disease:	Coarse hair

Coarse hair

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0080274
Disease:	Urinary Retention

Urinary Retention

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C1843367
Disease:	Poor school performance

Poor school performance

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0013274
Disease:	Patent ductus arteriosus

Patent ductus arteriosus

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0003803
Disease:	Arnold Chiari Malformation

Arnold Chiari Malformation

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C1839758
Disease:	Narrow forehead

Narrow forehead

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0206619
Disease:	Lymphatic Vessel Tumors

Lymphatic Vessel Tumors

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C1842366
Disease:	Low anterior hairline

Low anterior hairline

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0032914
Disease:	Pre-Eclampsia

Pre-Eclampsia

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0019294
Disease:	Hernia, Inguinal

Hernia, Inguinal

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C1298820
Disease:	Aneurysm of aortic root

Aneurysm of aortic root

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0585984
Disease:	Laryngotracheomalacia

Laryngotracheomalacia

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0694550
Disease:	Recurrent pneumonia

Recurrent pneumonia

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0011991
Disease:	Diarrhea

Diarrhea

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0013404
Disease:	Dyspnea

Dyspnea

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C2937358
Disease:	Cerebral Hemorrhage

Cerebral Hemorrhage

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C4025710
Disease:	Diminished movement

Diminished movement

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C4021735
Disease:	Abnormality of the hip bone

Abnormality of the hip bone

C

0.700

CausalMutation

CLINVAR