Source: ALL

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: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		disease 0.400 None 1.000 12 0 1993 2010
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		disease 0.340 None 1.000 5 0 1998 2018
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		disease 0.320 None 1.000 3 0 2004 2016
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association 		disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME 		disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		disease 0.130 None 1.000 3 0 1999 2016
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media 		disease 0.100 None 0 0
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C0423113
Disease: Telecanthus
Telecanthus 		phenotype 0.100 None 0 0
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		disease 0.100 None 0 0
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease 0.100 None 0 0
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C0702166
Disease: Acne
Acne 		disease 0.100 None 0 0
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C0431718
Disease: Multiple renal cysts
Multiple renal cysts 		disease 0.100 None 0 0
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C0566620
Disease: Nasal voice
Nasal voice 		phenotype 0.100 None 0 0
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C0546967
Disease: Posterior embryotoxon
Posterior embryotoxon 		disease 0.100 None 0 0
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C0685891
Disease: Congenital hypoplasia of thymus
Congenital hypoplasia of thymus 		disease 0.100 None 0 0
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C0266383
Disease: Uterine Anomalies
Uterine Anomalies 		group 0.100 None 0 0
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		disease 0.100 None 0 0
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		histone cell cycle regulator 0.537 0.808 1.00
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		disease 0.100 None 0 0