DisGeNET - a database of gene-disease associations

Source: CLINVAR

Gene: MAPK8IP3 ×

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:

rs770703007

rs770703007

MAPK8IP3

0.851

0.120

16

1706450

stop gained

C/G;T

snv

4.0E-06

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

0.700

dbSNP:

rs770703007

rs770703007

MAPK8IP3

0.851

0.120

16

1706450

stop gained

C/G;T

snv

4.0E-06

CUI:	C0013362
Disease:	Dysarthria

Dysarthria

0.700

dbSNP:

rs770703007

rs770703007

MAPK8IP3

0.851

0.120

16

1706450

stop gained

C/G;T

snv

4.0E-06

CUI:	C2267233
Disease:	Neonatal Hypotonia

Neonatal Hypotonia

0.700

dbSNP:

rs770703007

rs770703007

MAPK8IP3

0.851

0.120

16

1706450

stop gained

C/G;T

snv

4.0E-06

CUI:	C0423082
Disease:	Hypometric saccades

Hypometric saccades

0.700

dbSNP:

rs770703007

rs770703007

MAPK8IP3

0.851

0.120

16

1706450

stop gained

C/G;T

snv

4.0E-06

CUI:	C4023074
Disease:	EEG with parietal focal spikes

EEG with parietal focal spikes

0.700

dbSNP:

rs770703007

rs770703007

MAPK8IP3

0.851

0.120

16

1706450

stop gained

C/G;T

snv

4.0E-06

CUI:	C4023073
Disease:	EEG with temporal focal spikes

EEG with temporal focal spikes

0.700

dbSNP:

rs770703007

rs770703007

MAPK8IP3

0.851

0.120

16

1706450

stop gained

C/G;T

snv

4.0E-06

CUI:	C0700078
Disease:	Decreased tendon reflex

Decreased tendon reflex

0.700

dbSNP:

rs770703007

rs770703007

MAPK8IP3

0.851

0.120

16

1706450

stop gained

C/G;T

snv

4.0E-06

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700