DisGeNET - a database of gene-disease associations

Source: ALL

Gene: GBE1 ×

Results per page

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

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C0541794
Disease:	Skeletal muscle atrophy

Skeletal muscle atrophy

phenotype

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C0270790
Disease:	Quadriparesis

Quadriparesis

phenotype

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C0476403
Disease:	Electromyogram abnormal

Electromyogram abnormal

phenotype

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C1866934
Disease:	Reduced tendon reflexes

Reduced tendon reflexes

phenotype

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C0497327
Disease:	Dementia

Dementia

disease

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C4025723
Disease:	Abnormal upper motor neuron morphology

Abnormal upper motor neuron morphology

disease

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C1969372
Disease:	Tubulointerstitial fibrosis

Tubulointerstitial fibrosis

phenotype

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

phenotype

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C1857108
Disease:	Limitation of joint mobility

Limitation of joint mobility

phenotype

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C4017118
Disease:	ADULT POLYGLUCOSAN BODY NEUROPATHY

ADULT POLYGLUCOSAN BODY NEUROPATHY

disease

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C3714756
Disease:	Intellectual Disability

Intellectual Disability

group

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C4017114
Disease:	GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC

GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC

phenotype

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C4017116
Disease:	GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC

GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC

phenotype

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C4017117
Disease:	GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR

GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR

phenotype

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C1854494
Disease:	Slow progression

Slow progression

phenotype

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C4021768
Disease:	Abnormality of metabolism/homeostasis

Abnormality of metabolism/homeostasis

phenotype

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C1847584
Disease:	Distal sensory impairment

Distal sensory impairment

phenotype

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C1843663
Disease:	Urinary bladder sphincter dysfunction

Urinary bladder sphincter dysfunction

phenotype

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C1623038
Disease:	Cirrhosis

Cirrhosis

disease

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C0235659
Disease:	Reduced fetal movement

Reduced fetal movement

phenotype

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C0003962
Disease:	Ascites

Ascites

phenotype

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C0151786
Disease:	Muscle Weakness

Muscle Weakness

phenotype

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C0020305
Disease:	Hydrops Fetalis

Hydrops Fetalis

disease

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C0085605
Disease:	Liver Failure

Liver Failure

disease

0.100

None

Entrez Id:	2632
Gene Symbol:	GBE1

GBE1

1,4-alpha-glucan branching enzyme 1

0.612

0.654

1.1E-12

CUI:	C0020541
Disease:	Portal Hypertension

Portal Hypertension

disease

0.100

None