SIX5, SIX homeobox 5, 147912

N. diseases: 38; N. variants: 4
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: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 1994 1994
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases Congenital Abnormality 137 5 0.100 None 0
CUI: C0521619
Disease: Obstruction of pelviureteric junction
Obstruction of pelviureteric junction 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 14 2 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C1836678
Disease: Abnormality of the middle ear ossicles
Abnormality of the middle ear ossicles 		phenotype Finding 5 1 0.100 None 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		phenotype Finding 73 2 0.100 None 0
CUI: C1858567
Disease: Abnormal lacrimal duct morphology
Abnormal lacrimal duct morphology 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		phenotype Finding 53 4 0.100 None 0
CUI: C2676974
Disease: Hypoplasia of the cochlea
Hypoplasia of the cochlea 		phenotype Finding 7 0.100 None 0
CUI: C4021154
Disease: Enlarged cochlear aqueduct
Enlarged cochlear aqueduct 		phenotype Finding 3 0.100 None 0
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 155 4 0.100 None 1.000 10 1997 2003
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 14 0.530 disputed 1.000 8 2000 2014
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 179 14 0.040 None 1.000 4 1997 2002
CUI: C0006272
Disease: Bronchiolitis Obliterans
Bronchiolitis Obliterans 		disease Respiratory Tract Diseases Disease or Syndrome 93 5 0.020 None 1.000 2 2013 2018
CUI: C0410226
Disease: Congenital Myotonic Dystrophy
Congenital Myotonic Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 0.020 None 1.000 2 1999 2010
CUI: C1970479
Disease: Branchiootorenal Syndrome 2
Branchiootorenal Syndrome 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 4 4 0.700 None 1.000 2 4 1999 2007
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 1999 1999
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 137 13 0.300 moderate 1.000 1 1999 1999
CUI: C0206081
Disease: Hyperandrogenism
Hyperandrogenism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 108 24 0.010 None 1.000 1 2018 2018
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		disease Eye Diseases Disease or Syndrome 166 37 0.010 None 1.000 1 1999 1999
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.010 None < 0.001 1 2000 2000
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.010 None 1.000 1 2017 2017
CUI: C0006131
Disease: Branchioma
Branchioma 		disease Neoplasms Congenital Abnormality 10 0.100 None 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.100 None 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 182 3 0.100 None 0