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: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 561 0.100 None 0
CUI: C4020900
Disease: Abnormality of the upper limb
Abnormality of the upper limb 		phenotype Anatomical Abnormality 6 0.100 None 0 1
CUI: C4021387
Disease: Abnormality of upper limb joint
Abnormality of upper limb joint 		phenotype Anatomical Abnormality 1 0.100 None 0 1
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		group Anatomical Abnormality 93 0.100 None 0
CUI: C4022454
Disease: Abnormality of upper limb bone
Abnormality of upper limb bone 		phenotype Anatomical Abnormality 1 0.100 None 0 1
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: 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: 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: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 103 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 496 0.100 None 0 1
CUI: C0265563
Disease: Congenital dislocation of radial head
Congenital dislocation of radial head 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 27 0.100 None 0 1
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 0.100 None 0
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: 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: 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: 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: 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: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 146 0.110 None 1.000 3 10 2000 2018
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: C0730292
Disease: Macular dystrophy
Macular dystrophy 		disease Eye Diseases Disease or Syndrome 25 0.100 None 1.000 1 1 2019 2019
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: C0011334
Disease: Dental caries
Dental caries 		disease Stomatognathic Diseases Disease or Syndrome 191 0.100 None 0
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 532 0.100 None 0
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		disease Nervous System Diseases Disease or Syndrome 62 0.100 None 0 1
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease Eye Diseases Disease or Syndrome 286 0.100 None 0