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: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C0586553
Disease: Raised TSH level
Raised TSH level 		phenotype 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		phenotype 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		phenotype 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C4022657
Disease: Abnormal drinking behavior
Abnormal drinking behavior 		disease 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C4021982
Disease: Abnormal eating behavior
Abnormal eating behavior 		phenotype 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C1855311
Disease: Megacystis
Megacystis 		phenotype 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		disease 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C1844662
Disease: Unexplained fevers
Unexplained fevers 		phenotype 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C1840380
Disease: Persistent cavum septum pellucidum
Persistent cavum septum pellucidum 		phenotype 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C4021754
Disease: Abnormality of the sella turcica
Abnormality of the sella turcica 		phenotype 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C0917799
Disease: Hypersomnia
Hypersomnia 		disease 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		group 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C0024421
Disease: Macroglossia
Macroglossia 		disease 0.100 None 0 0