Source: HPO

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: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.110 None 1.000 0 0 2000 2000
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C1837767
Disease: Loss of facial adipose tissue
Loss of facial adipose tissue 		phenotype 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		phenotype 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		phenotype 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C0740852
Disease: Upper airway obstruction
Upper airway obstruction 		disease 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		disease 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		disease 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C1855852
Disease: Abnormally large globe
Abnormally large globe 		phenotype 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C4317152
Disease: Dimple chin
Dimple chin 		phenotype 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C4025867
Disease: Abnormality of the forehead
Abnormality of the forehead 		phenotype 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		disease 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C1865244
Disease: Shallow orbits
Shallow orbits 		phenotype 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		phenotype 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C1857710
Disease: Progeroid facial appearance
Progeroid facial appearance 		phenotype 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C1856118
Disease: Prominent nasal tip
Prominent nasal tip 		phenotype 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		phenotype 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C0426439
Disease: Narrow nostrils
Narrow nostrils 		phenotype 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		phenotype 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.100 None 0 0
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease 0.100 None 0 0