Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C4225203
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 		disease 0.700 None 1.000 1 14 2015 2018
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 1 2018 2018
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C4706556
Disease: Hypotonia, speech impairment, severe cognitive delay syndrome
Hypotonia, speech impairment, severe cognitive delay syndrome 		disease 0.100 None 1.000 2 1 2016 2016
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		phenotype 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C1866806
Disease: Unilateral ptosis
Unilateral ptosis 		phenotype 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C1858091
Disease: Long fingers
Long fingers 		phenotype 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail 		phenotype 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C1847524
Disease: Hyperopic astigmatism
Hyperopic astigmatism 		disease 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C1837402
Disease: Flat occiput
Flat occiput 		phenotype 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		phenotype 0.100 None 0 7
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype 0.100 None 0 2
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		disease 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C4025741
Disease: Clinodactyly of the 5th toe
Clinodactyly of the 5th toe 		disease 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C4024166
Disease: Crumpled ear
Crumpled ear 		disease 0.100 None 0 2
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C4023465
Disease: EEG with occipital slowing
EEG with occipital slowing 		phenotype 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C4023452
Disease: Elevated C-reactive protein level
Elevated C-reactive protein level 		phenotype 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		phenotype 0.100 None 0 1