USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Source: ALL
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 4 314 1.000 None 1.000 103 311 1998 2017
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
disease Disease or Syndrome 1 276 0.700 None 1.000 111 276 1998 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.700 strong 1.000 46 54 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 8 16 0.690 definitive 1.000 17 15 1994 2018
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.480 strong 1.000 9 5 1998 2019
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 12 7 0.400 strong 1.000 27 1 1990 2018
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.310 limited 1.000 1 2009 2009
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.310 None 1.000 1 2019 2019
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.300 None 0
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 68 74 0.200 None 0.990 105 37 1998 2019
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 42 1 0.200 None 1.000 1 2007 2007
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.140 None 1.000 4 2004 2018
Congenital sensorineural hearing loss
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 68 17 0.120 None 1.000 2 6 2016 2019
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group Eye Diseases Disease or Syndrome 219 227 0.110 None 1.000 4 10 2000 2018
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
disease Eye Diseases Disease or Syndrome 168 18 0.110 None 1.000 1 2 1992 1992
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.110 None 1.000 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 194 33 0.110 None 1.000 1 2018 2018
CUI: C0456909
Disease: Blindness
Blindness
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.110 None 1.000 1 1 2019 2019
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Anatomical Abnormality 30 3 0.110 None 1.000 1 1 2018 2018
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype Finding 103 93 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 251 350 0.100 None 1.000 15 2 2000 2015
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2011 2011
CUI: C0005612
Disease: Birth Weight
Birth Weight
phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 214 369 0.100 None 1.000 1 1 2019 2019
CUI: C0005823
Disease: Blood Pressure
Blood Pressure
phenotype Organism Function 109 220 0.100 None 1.000 1 1 2010 2010
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 86 53 0.100 None 1.000 1 3 2019 2019