Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C4225203
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 		0.700 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C4225203
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 		0.700 CausalMutation CLINVAR Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). 30167850

2018
Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0007642
Disease: Cellulitis
Cellulitis 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0009806
Disease: Constipation
Constipation 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0013404
Disease: Dyspnea
Dyspnea 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0013595
Disease: Eczema
Eczema 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0014877
Disease: Esotropia
Esotropia 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0022346
Disease: Icterus
Icterus 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0039231
Disease: Tachycardia
Tachycardia 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0086439
Disease: Hypokinesia
Hypokinesia 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0234860
Disease: Weak cry
Weak cry 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR