LOXHD1, lipoxygenase homology domains 1, 125336

N. diseases: 11; 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: C2746083
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 9 0.610 None 1.000 9 9 2011 2019
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.320 strong 0.667 3 2012 2018
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.310 definitive 1.000 4 1 2009 2016
CUI: C1266708
Disease: Polybrominated biphenyl measurement
Polybrominated biphenyl measurement 		phenotype Laboratory Procedure 12 14 0.100 None 1.000 1 1 2017 2017
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 117 30 0.100 None 0
CUI: C0011053
Disease: Deafness
Deafness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 62 37 0.100 None 0 1
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 94 32 0.040 None 1.000 4 2012 2018
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 104 12 0.020 None < 0.001 2 2012 2018
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 72 11 0.010 None 1.000 1 2015 2015
CUI: C0018780
Disease: Hearing Loss, High-Frequency
Hearing Loss, High-Frequency 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 35 8 0.010 None 1.000 1 2016 2016
CUI: C1857800
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 6 1 0.010 None 1.000 1 2018 2018