DisGeNET - a database of gene-disease associations

rs1057519463, HEXA

N. diseases: 6

Disease: Developmental regression ×

Source: ALL

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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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Developmental regression

CUI:	C1836830
Disease:	Developmental regression

80

0.882

0.240

15

72349160

frameshift variant

GAACTCAT/-

delins

0.700

1.000

2014

2014