DisGeNET - a database of gene-disease associations

rs1163944538, TMEM94

N. diseases: 73

Source: ALL

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Laryngotracheomalacia

CUI:	C0585984
Disease:	Laryngotracheomalacia

0.700

CausalMutation

CLINVAR

Global developmental delay

CUI:	C0557874
Disease:	Global developmental delay

0.700

CausalMutation

CLINVAR

Low anterior hairline

CUI:	C1842366
Disease:	Low anterior hairline

0.700

CausalMutation

CLINVAR

Large head (disorder)

CUI:	C2243051
Disease:	Large head (disorder)

0.700

CausalMutation

CLINVAR

Headache

CUI:	C0018681
Disease:	Headache

0.700

CausalMutation

CLINVAR

Diarrhea

CUI:	C0011991
Disease:	Diarrhea

0.700

CausalMutation

CLINVAR

Arachnodactyly

CUI:	C0003706
Disease:	Arachnodactyly

0.700

CausalMutation

CLINVAR

Memory impairment

CUI:	C0233794
Disease:	Memory impairment

0.700

CausalMutation

CLINVAR

Tachypnea

CUI:	C0231835
Disease:	Tachypnea

0.700

CausalMutation

CLINVAR

Neoplasms

CUI:	C0027651
Disease:	Neoplasms

0.700

CausalMutation

CLINVAR

Diminished movement

CUI:	C4025710
Disease:	Diminished movement

0.700

CausalMutation

CLINVAR

Urinary Retention

CUI:	C0080274
Disease:	Urinary Retention

0.700

CausalMutation

CLINVAR

Ventricular Septal Defects

CUI:	C0018818
Disease:	Ventricular Septal Defects

0.700

CausalMutation

CLINVAR

Abnormality of tibia morphology

CUI:	C4025663
Disease:	Abnormality of tibia morphology

0.700

CausalMutation

CLINVAR

Large hand

CUI:	C0426870
Disease:	Large hand

0.700

CausalMutation

CLINVAR

Constipation

CUI:	C0009806
Disease:	Constipation

0.700

CausalMutation

CLINVAR

Posteriorly rotated ear

CUI:	C0431478
Disease:	Posteriorly rotated ear

0.700

CausalMutation

CLINVAR

Vertigo

CUI:	C0042571
Disease:	Vertigo

0.700

CausalMutation

CLINVAR

Anteverted nostril

CUI:	C1840077
Disease:	Anteverted nostril

0.700

CausalMutation

CLINVAR

Sunken eyes

CUI:	C0423224
Disease:	Sunken eyes

0.700

CausalMutation

CLINVAR

Congenital pectus excavatum

CUI:	C0016842
Disease:	Congenital pectus excavatum

0.700

CausalMutation

CLINVAR

Abnormality of the scrotum

CUI:	C4025895
Disease:	Abnormality of the scrotum

0.700

CausalMutation

CLINVAR

Long neck

CUI:	C1839816
Disease:	Long neck

0.700

CausalMutation

CLINVAR

Abnormality of cardiovascular system morphology

CUI:	C4049796
Disease:	Abnormality of cardiovascular system morphology

0.700

CausalMutation

CLINVAR

Scoliosis, unspecified

CUI:	C0036439
Disease:	Scoliosis, unspecified

0.700

CausalMutation

CLINVAR