DisGeNET - a database of gene-disease associations

FRAXE, fragile site, folic acid type, rare, fra(X)(q28) E, 2481

N. diseases: 50; N. variants: 0

Disease: Developmental Disabilities ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Type

Disease Class

Semantic Type

N. genes_d

N. SNPs_d

Score _gda

EL _gda

EI _gda

N. PMIDs

N. SNPs _gda

First Ref.

Last Ref.

CUI:	C0008073
Disease:	Developmental Disabilities

Developmental Disabilities

group

Mental Disorders

Mental or Behavioral Dysfunction

355

19

0.020

None

1.000

2

1996

2001