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: 9440
Gene Symbol: MED17
MED17 		mediator complex subunit 17 0.769 0.269 3.1E-09
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 9440
Gene Symbol: MED17
MED17 		mediator complex subunit 17 0.769 0.269 3.1E-09
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		phenotype 0.100 None 0 0
Entrez Id: 9440
Gene Symbol: MED17
MED17 		mediator complex subunit 17 0.769 0.269 3.1E-09
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		phenotype 0.100 None 0 0
Entrez Id: 9440
Gene Symbol: MED17
MED17 		mediator complex subunit 17 0.769 0.269 3.1E-09
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype 0.100 None 0 0
Entrez Id: 9440
Gene Symbol: MED17
MED17 		mediator complex subunit 17 0.769 0.269 3.1E-09
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		phenotype 0.100 None 0 0
Entrez Id: 9440
Gene Symbol: MED17
MED17 		mediator complex subunit 17 0.769 0.269 3.1E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 9440
Gene Symbol: MED17
MED17 		mediator complex subunit 17 0.769 0.269 3.1E-09
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.100 None 0 0
Entrez Id: 9440
Gene Symbol: MED17
MED17 		mediator complex subunit 17 0.769 0.269 3.1E-09
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 0
Entrez Id: 9440
Gene Symbol: MED17
MED17 		mediator complex subunit 17 0.769 0.269 3.1E-09
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 9440
Gene Symbol: MED17
MED17 		mediator complex subunit 17 0.769 0.269 3.1E-09
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.100 None 0 0
Entrez Id: 9440
Gene Symbol: MED17
MED17 		mediator complex subunit 17 0.769 0.269 3.1E-09
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group 0.100 None 0 0
Entrez Id: 9440
Gene Symbol: MED17
MED17 		mediator complex subunit 17 0.769 0.269 3.1E-09
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.100 None 0 0