DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs770374710 ×

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:	C0432072
Disease:	Dysmorphic features

Dysmorphic features

0.700

1.000

1993

2015

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0029453
Disease:	Osteopenia

Osteopenia

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:	C0010278
Disease:	Craniosynostosis

Craniosynostosis

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C1386048
Disease:	Intrauterine retardation

Intrauterine retardation

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:	C0151526
Disease:	Premature Birth

Premature Birth

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C1829460
Disease:	Tongue thrusting

Tongue thrusting

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0034013
Disease:	Precocious Puberty

Precocious Puberty

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0020488
Disease:	Hypernatremia

Hypernatremia

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C1446712
Disease:	Overlapping fingers

Overlapping fingers

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C4025741
Disease:	Clinodactyly of the 5th toe

Clinodactyly of the 5th toe

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:	C1853743
Disease:	Muscular hypotonia of the trunk

Muscular hypotonia of the trunk

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C3714796
Disease:	Isolated somatotropin deficiency

Isolated somatotropin deficiency

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:	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:	C0242343
Disease:	Panhypopituitarism

Panhypopituitarism

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0020676
Disease:	Hypothyroidism

Hypothyroidism

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C4023342
Disease:	Gastrostomy tube feeding in infancy

Gastrostomy tube feeding in infancy

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0020458
Disease:	Hyperhidrosis disorder

Hyperhidrosis disorder

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C0264303
Disease:	Laryngomalacia

Laryngomalacia

0.700

dbSNP:

rs770374710

MAGEL2

0.611

0.560

23645747

frameshift variant

G/-;GG

delins

CUI:	C1843108
Disease:	Short palm

Short palm

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:	C0700292
Disease:	Hypoxemia

Hypoxemia

0.700