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: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0858618
Disease: Dyschromatopsia
Dyschromatopsia 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0033377
Disease: Ptosis
Ptosis 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C4021533
Disease: Severe sensorineural hearing impairment
Severe sensorineural hearing impairment 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		disease 0.120 None 1.000 0 0 2003 2012
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0029134
Disease: Optic Neuritis
Optic Neuritis 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		disease 0.110 None 1.000 0 0 2002 2002
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		disease 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		disease 0.100 None 0 0