GDF6, growth differentiation factor 6, 392255

N. diseases: 91; 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: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		disease Musculoskeletal Diseases Congenital Abnormality 40 6 0.010 None 1.000 1 2008 2008
CUI: C0266231
Disease: Ectopic anus
Ectopic anus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 20 0.100 None 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		phenotype Finding 158 10 0.100 None 0
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		disease Eye Diseases Disease or Syndrome 158 109 0.010 None 1.000 1 2014 2014
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		phenotype Pathological Conditions, Signs and Symptoms Finding 109 13 0.100 None 0
CUI: C0015967
Disease: Fever
Fever 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.010 None 1.000 1 2012 2012
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		phenotype Finding 25 4 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: 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: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		disease Disease or Syndrome 112 2 0.100 None 0
CUI: C1298695
Disease: Hypoplasia of optic disc
Hypoplasia of optic disc 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 31 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C0234251
Disease: Inflammatory pain
Inflammatory pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 266 1 0.010 None 1.000 1 2018 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration 		disease Musculoskeletal Diseases Disease or Syndrome 342 47 0.020 None 1.000 2 2018 2018
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 12 14 0.010 None 1.000 1 2009 2009
CUI: C0022578
Disease: Keratoconus
Keratoconus 		disease Eye Diseases Disease or Syndrome 269 83 0.100 None 0
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 12 5 0.740 limited 1.000 4 2008 2015
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 7 0.730 None 1.000 7 4 1988 2013
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease Eye Diseases Disease or Syndrome 83 109 0.310 None 1.000 2 2013 2015
CUI: C3715164
Disease: LEBER CONGENITAL AMAUROSIS 17
LEBER CONGENITAL AMAUROSIS 17 		disease Disease or Syndrome 1 4 0.700 None 1.000 1 4 2013 2013
CUI: C1835450
Disease: Leri pleonosteosis
Leri pleonosteosis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 0.010 None 1.000 1 2015 2015
CUI: C1859212
Disease: Limited neck range of motion
Limited neck range of motion 		phenotype Finding 5 2 0.100 None 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		phenotype Finding 86 11 0.100 None 0