USH2A, usherin, 7399

N. diseases: 88; N. variants: 327
Source: INFERRED ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 1.000 None 1.000 94 256 1998 2017
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		disease Disease or Syndrome 1 0.700 None 1.000 105 255 1998 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 199 0.700 strong 1.000 16 53 1998 2019
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 0.690 definitive 1.000 0 15 1994 2018
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 551 0.480 strong 1.000 0 4 1998 2019
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 14 0.200 None 0.990 62 35 1998 2019
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 622 0.140 None 1.000 0 2004 2018
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 49 0.120 None 1.000 0 6 2016 2019
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 146 0.110 None 1.000 3 10 2000 2018
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 111 0.110 None 1.000 0 2019 2019
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Anatomical Abnormality 27 0.110 None 1.000 0 1 2018 2018
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 238 0.110 None 1.000 0 1 2019 2019
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 157 0.110 None 1.000 0 2018 2018
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		disease Eye Diseases Disease or Syndrome 158 0.110 None 1.000 0 2 1992 1992
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 102 0.100 None 1.000 15 2 2000 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 0.100 None 1.000 15 2 2000 2015
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		phenotype Laboratory Procedure 486 0.100 None 1.000 1 1 2011 2011
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 44 0.100 None 1.000 1 3 2019 2019
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease Eye Diseases Disease or Syndrome 28 0.100 None 1.000 1 1 2019 2019
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		phenotype Organism Function 109 0.100 None 1.000 1 1 2010 2010
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 19 0.100 None 1.000 1 1 2019 2019
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		disease Eye Diseases Disease or Syndrome 25 0.100 None 1.000 1 1 2019 2019
CUI: C0005612
Disease: Birth Weight
Birth Weight 		phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 206 0.100 None 1.000 1 1 2019 2019
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 0.100 None 0
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		disease Disease or Syndrome 28 0.100 None 0 11