DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs587777893 ×

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:

rs587777893

MTOR

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C1850853
Disease:	Hyperextensibility at wrists

Hyperextensibility at wrists

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C3805727
Disease:	MEGALENCEPHALY, AUTOSOMAL DOMINANT

MEGALENCEPHALY, AUTOSOMAL DOMINANT

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C0008519
Disease:	Ectopic Tissue

Ectopic Tissue

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C0162835
Disease:	Hypopigmentation disorder

Hypopigmentation disorder

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C3806616
Disease:	Macular hypopigmented whorls, streaks, and patches

Macular hypopigmented whorls, streaks, and patches

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C1827524
Disease:	Wide spaced nipples

Wide spaced nipples

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C0152207
Disease:	Alternating Exotropia

Alternating Exotropia

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C0027092
Disease:	Myopia

Myopia

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C0221358
Disease:	Long narrow head

Long narrow head

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C4024877
Disease:	Hyperpigmented/hypopigmented macules

Hyperpigmented/hypopigmented macules

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C4021217
Disease:	EEG with generalized slow activity

EEG with generalized slow activity

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C1854882
Disease:	Absent speech

Absent speech

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C3553450
Disease:	Profound global developmental delay

Profound global developmental delay

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C0036572
Disease:	Seizures

Seizures

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C1849683
Disease:	No social interaction

No social interaction

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C4317146
Disease:	Acid reflux

Acid reflux

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C1837260
Disease:	Prominent forehead

Prominent forehead

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C0494475
Disease:	Tonic - clonic seizures

Tonic - clonic seizures

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C4048268
Disease:	Cortical visual impairment

Cortical visual impairment

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C3887898
Disease:	Infantile Spasm

Infantile Spasm

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C0029128
Disease:	Optic Disk Drusen

Optic Disk Drusen

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C1527366
Disease:	Salaam Seizures

Salaam Seizures

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C4023808
Disease:	Hyperextensibility at elbow

Hyperextensibility at elbow

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777893

MTOR

CUI:	C0020255
Disease:	Hydrocephalus

Hydrocephalus

0.700

CausalMutation

CLINVAR