STRC, stereocilin, 161497

N. diseases: 25; N. variants: 12
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: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 11 0.830 strong 1.000 9 11 2001 2018
Deafness, Sensorineural, And Male Infertility
disease Pathological Conditions, Signs and Symptoms; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 1 0.600 None 1.000 1 1 2007 2007
CUI: C2751811
Disease: Spermatogenic Failure 7
Spermatogenic Failure 7
disease Male Urogenital Diseases Disease or Syndrome 4 3 0.400 None 0 1
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.320 definitive 1.000 6 2001 2019
Sensorineural hearing loss, bilateral
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 117 30 0.310 None 1.000 2 2008 2012
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.150 None 1.000 5 1 2012 2019
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.130 None 1.000 3 1 2001 2019
CUI: C0042571
Disease: Vertigo
Vertigo
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 173 35 0.110 None 1.000 1 1 2018 2018
CUI: C0520933
Disease: Abnormal spermatogenesis
Abnormal spermatogenesis
phenotype Male Urogenital Diseases Finding 5 0.100 None 0
CUI: C0004509
Disease: Azoospermia
Azoospermia
disease Male Urogenital Diseases Disease or Syndrome 254 70 0.100 None 0
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia
disease Male Urogenital Diseases Disease or Syndrome 164 17 0.100 None 0
CUI: C0028960
Disease: Oligospermia
Oligospermia
disease Male Urogenital Diseases Disease or Syndrome 217 72 0.100 None 0
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.100 None 0
CUI: C4023001
Disease: Nonmotile sperm
Nonmotile sperm
phenotype Finding 6 0.100 None 0
CUI: C1858916
Disease: DEAFNESS, AUTOSOMAL DOMINANT 16
DEAFNESS, AUTOSOMAL DOMINANT 16
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 1 0.100 None 0 1
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 10 81 0.010 None 1.000 1 2002 2002
Auditory neuropathy spectrum disorder
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 28 17 0.010 None 1.000 1 2002 2002
CUI: C1852271
Disease: Auditory neuropathy
Auditory neuropathy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 24 20 0.010 None 1.000 1 2002 2002
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 38 4 0.010 None 1.000 1 2009 2009
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 7 135 0.010 None 1.000 1 2002 2002
CUI: C1832828
Disease: Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 9
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 5 88 0.010 None 1.000 1 2002 2002
CUI: C0860659
Disease: Aloof
Aloof
disease Mental or Behavioral Dysfunction 81 0.010 None 1.000 1 2019 2019
CUI: C0029899
Disease: Otosclerosis
Otosclerosis
disease Otorhinolaryngologic Diseases Disease or Syndrome 49 11 0.010 None 1.000 1 2001 2001
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.010 None 1.000 1 2018 2018
CUI: C4551901
Disease: OTOSCLEROSIS 1
OTOSCLEROSIS 1
disease Otorhinolaryngologic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2001 2001