USH1G, USH1 protein network component sans, 124590

N. diseases: 52; N. variants: 14
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: C1847089
Disease: USHER SYNDROME, TYPE IG
USHER SYNDROME, TYPE IG 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 9 0.920 None 1.000 9 9 1992 2017
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.620 strong 1.000 3 3 2014 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 0.500 definitive 1.000 12 1992 2016
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 23 168 0.450 definitive 1.000 14 3 2002 2016
CUI: C2931205
Disease: Usher syndrome, type 1A
Usher syndrome, type 1A 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 14 2 0.340 strong 1.000 5 2003 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.300 disputed 1.000 10 2011 2018
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		disease Disease or Syndrome 5 0.300 definitive 1.000 9 2002 2016
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 14 11 0.300 definitive 1.000 9 2002 2016
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		disease Disease or Syndrome 5 0.300 definitive 1.000 9 2002 2016
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 None 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.300 limited 0
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.160 None 1.000 6 1 1998 2018
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.110 None 1.000 1 2009 2009
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 194 33 0.100 None 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease Disease or Syndrome 271 13 0.100 None 0
CUI: C1848606
Disease: Vestibular hypofunction
Vestibular hypofunction 		phenotype Finding 13 0.100 None 0
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		disease Disease or Syndrome 29 41 0.100 None 0 1
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 68 17 0.100 None 0 1
CUI: C4021651
Disease: Hypoplasia of the nasal bone
Hypoplasia of the nasal bone 		phenotype Finding 3 0.100 None 0
CUI: C4025858
Disease: Abnormal cochlea morphology
Abnormal cochlea morphology 		disease Anatomical Abnormality 16 1 0.100 None 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		phenotype Finding 116 5 0.100 None 0
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.100 None 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C4023018
Disease: Subcortical cerebral atrophy
Subcortical cerebral atrophy 		disease Disease or Syndrome 22 0.100 None 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		group Anatomical Abnormality 96 4 0.100 None 0