DisGeNET - a database of gene-disease associations

Source: CLINVAR

Gene: MAGEL2 ×

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:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0549629
Disease:	Abnormal delivery

Abnormal delivery

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0221354
Disease:	Frontal bossing

Frontal bossing

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0014877
Disease:	Esotropia

Esotropia

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0020635
Disease:	Hypopituitarism

Hypopituitarism

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0426886
Disease:	Tapering fingers (finding)

Tapering fingers (finding)

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0948163
Disease:	Leukoaraiosis

Leukoaraiosis

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0036439
Disease:	Scoliosis, unspecified

Scoliosis, unspecified

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C1855670
Disease:	Abnormal cornea morphology

Abnormal cornea morphology

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0575802
Disease:	Small hand

Small hand

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0232466
Disease:	Feeding difficulties

Feeding difficulties

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0001623
Disease:	Adrenal gland hypofunction

Adrenal gland hypofunction

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C1855669
Disease:	Absent frontal sinuses

Absent frontal sinuses

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0026826
Disease:	Muscle Hypertonia

Muscle Hypertonia

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0265535
Disease:	Trigonocephaly

Trigonocephaly

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0431928
Disease:	Congenital overgrowth of lower limb

Congenital overgrowth of lower limb

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C3278923
Disease:	Dilated ventricles (finding)

Dilated ventricles (finding)

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0349588
Disease:	Short stature

Short stature

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0038379
Disease:	Strabismus

Strabismus

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0239815
Disease:	Hand clenching

Hand clenching

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C1836623
Disease:	Decreased circulating cortisol level

Decreased circulating cortisol level

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C4021845
Disease:	Oromotor apraxia

Oromotor apraxia

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0271801
Disease:	Central hypothyroidism

Central hypothyroidism

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0151611
Disease:	Electroencephalogram abnormal

Electroencephalogram abnormal

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0151526
Disease:	Premature Birth

Premature Birth

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0920299
Disease:	Overriding toe

Overriding toe

0.700