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: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		disease 1.000 None 1.000 103 311 1998 2017
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		disease 0.700 None 1.000 111 276 1998 2017
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.700 strong 1.000 46 54 1998 2019
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		disease 0.690 definitive 1.000 17 15 1994 2018
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.480 strong 1.000 9 5 1998 2019
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		disease 0.400 strong 1.000 27 1 1990 2018
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease 0.310 limited 1.000 1 0 2009 2009
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease 0.310 None 1.000 1 0 2019 2019
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		disease 0.200 None 0.990 105 37 1998 2019
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.200 None 1.000 1 0 2007 2007
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.140 None 1.000 4 0 2004 2018
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		disease 0.120 None 1.000 2 6 2016 2019
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 0.110 None 1.000 4 10 2000 2018
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		disease 0.110 None 1.000 1 2 1992 1992
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		phenotype 0.110 None 1.000 1 0 2019 2019
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		disease 0.110 None 1.000 1 0 2018 2018
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C0456909
Disease: Blindness
Blindness 		phenotype 0.110 None 1.000 1 1 2019 2019
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		phenotype 0.110 None 1.000 1 1 2018 2018
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype 0.100 None 1.000 15 2 2000 2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 15 2 2000 2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		phenotype 0.100 None 1.000 1 1 2011 2011
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C0005612
Disease: Birth Weight
Birth Weight 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		phenotype 0.100 None 1.000 1 1 2010 2010
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		disease 0.100 None 1.000 1 3 2019 2019