DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs587784347 ×

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:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C0011334
Disease:	Dental caries

Dental caries

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C1857539
Disease:	Deep palmar crease

Deep palmar crease

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C0542223
Disease:	Loss of speech

Loss of speech

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C4022768
Disease:	Cerebellar gliosis

Cerebellar gliosis

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C3553450
Disease:	Profound global developmental delay

Profound global developmental delay

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C0270724
Disease:	Infantile Neuroaxonal Dystrophy

Infantile Neuroaxonal Dystrophy

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C0233565
Disease:	Bradykinesia

Bradykinesia

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C1836479
Disease:	Saccadic smooth pursuit

Saccadic smooth pursuit

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C1850816
Disease:	Decreased/absent ankle reflexes

Decreased/absent ankle reflexes

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C1853743
Disease:	Muscular hypotonia of the trunk

Muscular hypotonia of the trunk

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C4024710
Disease:	Cerebellar cortical atrophy

Cerebellar cortical atrophy

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C4021898
Disease:	Upper limb hypertonia

Upper limb hypertonia

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C1842366
Disease:	Low anterior hairline

Low anterior hairline

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C0232466
Disease:	Feeding difficulties

Feeding difficulties

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C0751093
Disease:	Dystonia, Limb

Dystonia, Limb

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C0409345
Disease:	Flexion contracture - wrist

Flexion contracture - wrist

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C1837108
Disease:	Decreased muscle mass

Decreased muscle mass

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C0162316
Disease:	Iron deficiency anemia

Iron deficiency anemia

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C3554617
Disease:	Adducted thumb

Adducted thumb

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C0401149
Disease:	Chronic constipation

Chronic constipation

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C4054546
Disease:	Melanocortin 4 Receptor Deficiency

Melanocortin 4 Receptor Deficiency

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C1112256
Disease:	Sensorimotor neuropathy

Sensorimotor neuropathy

0.700

dbSNP:

rs587784347

PLA2G6

0.742

0.280

38113561

missense variant

G/A

snv

8.0E-06

CUI:	C0409338
Disease:	Flexion contracture - elbow

Flexion contracture - elbow

0.700