DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: EEG with generalized slow activity ×

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:

rs1553920379

PPP3CA

0.776

0.160

101032294

frameshift variant

-/AGTA

delins

CUI:	C4021217
Disease:	EEG with generalized slow activity

EEG with generalized slow activity

0.700

dbSNP:

rs1555462347

USP7

0.716

0.520

8901028

frameshift variant

CT/-

delins

CUI:	C4021217
Disease:	EEG with generalized slow activity

EEG with generalized slow activity

0.700

dbSNP:

rs1560755661

TBCK

0.701

0.480

106171094

splice donor variant

CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-

delins

CUI:	C4021217
Disease:	EEG with generalized slow activity

EEG with generalized slow activity

0.700

dbSNP:

rs28934907

MECP2

0.732

0.320

154032268

missense variant

G/A;C

snv

CUI:	C4021217
Disease:	EEG with generalized slow activity

EEG with generalized slow activity

0.700

dbSNP:

rs587777893

MTOR

0.658

0.240

11128107

missense variant

G/A;T

snv

CUI:	C4021217
Disease:	EEG with generalized slow activity

EEG with generalized slow activity

0.700

dbSNP:

rs587782995

PURA

0.708

0.360

140114480

missense variant

T/C

snv

CUI:	C4021217
Disease:	EEG with generalized slow activity

EEG with generalized slow activity

0.700