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:	C0749379
Disease:	Thoracolumbar scoliosis

Thoracolumbar scoliosis

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0424503
Disease:	Dysmorphic facies

Dysmorphic facies

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0018916
Disease:	Hemangioma

Hemangioma

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C1260926
Disease:	Abnormal pigmentation

Abnormal pigmentation

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C1842060
Disease:	Prominent supraorbital ridges

Prominent supraorbital ridges

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C4025790
Disease:	Specific learning disability

Specific learning disability

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0018818
Disease:	Ventricular Septal Defects

Ventricular Septal Defects

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0233794
Disease:	Memory impairment

Memory impairment

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0431478
Disease:	Posteriorly rotated ear

Posteriorly rotated ear

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0027651
Disease:	Neoplasms

Neoplasms

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C1853487
Disease:	Thick eyebrow

Thick eyebrow

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0240635
Disease:	Byzanthine arch palate

Byzanthine arch palate

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0036439
Disease:	Scoliosis, unspecified

Scoliosis, unspecified

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0004604
Disease:	Back Pain

Back Pain

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0221358
Disease:	Long narrow head

Long narrow head

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0003706
Disease:	Arachnodactyly

Arachnodactyly

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C1842681
Disease:	Hypoplastic helices

Hypoplastic helices

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C1840077
Disease:	Anteverted nostril

Anteverted nostril

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0231807
Disease:	Dyspnea on exertion

Dyspnea on exertion

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0030252
Disease:	Palpitations

Palpitations

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0018817
Disease:	Atrial Septal Defects

Atrial Septal Defects

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0018681
Disease:	Headache

Headache

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0000737
Disease:	Abdominal Pain

Abdominal Pain

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

rs1352010373

TMEM94

CUI:	C0423224
Disease:	Sunken eyes

Sunken eyes

C

0.700

CausalMutation

CLINVAR