POU3F4, POU class 3 homeobox 4, 5456

N. diseases: 65; N. variants: 18
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.
Progressive hearing loss stapes fixation
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 35 0.750 strong 1.000 9 17 1995 2014
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.420 strong 1.000 3 3 1995 2009
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.340 definitive 1.000 11 1995 2020
Deafness, Sensorineural, Autosomal-Mitochondrial Type
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 8 0.300 None 1.000 1 2009 2009
CUI: C1844836
Disease: Ayazi syndrome
Ayazi syndrome
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 0.300 None 1.000 1 2007 2007
CUI: C0008525
Disease: Choroideremia
Choroideremia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 41 15 0.130 None 1.000 3 1989 2000
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 291 5 0.110 None 1.000 1 2013 2013
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive
phenotype Finding 172 1 0.100 None 0 1
CUI: C0521683
Disease: Chorioretinal degeneration
Chorioretinal degeneration
disease Eye Diseases Pathologic Function 5 0.100 None 0
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 29 3 0.100 None 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C1861326
Disease: Stapes ankylosis
Stapes ankylosis
phenotype Finding 4 0.100 None 0
CUI: C4073006
Disease: Visual acuity test abnormality
Visual acuity test abnormality
phenotype Finding 5 0.100 None 0
CUI: C4025858
Disease: Abnormal cochlea morphology
Abnormal cochlea morphology
disease Anatomical Abnormality 16 1 0.100 None 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness
phenotype Eye Diseases Finding 87 3 0.100 None 0
CUI: C4024769
Disease: Reticular pigmentary degeneration
Reticular pigmentary degeneration
disease Disease or Syndrome 2 0.100 None 0
CUI: C4021642
Disease: Abnormality of the Achilles tendon
Abnormality of the Achilles tendon
disease Musculoskeletal Diseases Anatomical Abnormality 8 0.100 None 0
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency
disease Disease or Syndrome 168 27 0.100 None 0
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 47 2 0.100 None 0
CUI: C2676973
Disease: Dilatated internal auditory canal
Dilatated internal auditory canal
phenotype Finding 7 2 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
Sensorineural hearing loss, bilateral
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 117 30 0.100 None 0