B3GLCT, beta 3-glucosyltransferase, 145173

N. diseases: 157; N. variants: 11
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: C0796012
Disease: Krause-Kivlin syndrome
Krause-Kivlin syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 5 5 0.700 strong 0.933 15 5 2006 2019
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.300 None 1.000 1 2008 2008
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.120 None 0.750 4 2 2013 2019
Irido-corneo-trabecular dysgenesis (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 35 12 0.120 None 1.000 2 1 2012 2014
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.110 None 1.000 1 2011 2011
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease Nervous System Diseases Disease or Syndrome 473 37 0.110 None 1.000 1 2019 2019
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.110 None 1.000 1 2019 2019
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.100 None 1.000 1 1 2018 2018
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 2 2018 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration
disease Eye Diseases Disease or Syndrome 49 69 0.100 None 1.000 1 1 2016 2016
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
disease Eye Diseases Disease or Syndrome 85 81 0.100 None 1.000 1 1 2016 2016
Exudative age-related macular degeneration
disease Eye Diseases Disease or Syndrome 158 109 0.100 None 1.000 1 1 2016 2016
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia
phenotype Finding 30 0.100 None 0
CUI: C1836195
Disease: Short toe
Short toe
phenotype Finding 56 3 0.100 None 0
CUI: C1849953
Disease: Square pelvis bone
Square pelvis bone
disease Anatomical Abnormality 4 0.100 None 0
Agenesis of maxillary lateral incisor
phenotype Finding 5 1 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal
phenotype Finding 66 7 0.100 None 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype Finding 159 25 0.100 None 0
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype Finding 34 1 0.100 None 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype Finding 129 21 0.100 None 0
CUI: C1846422
Disease: Bilobate gallbladder
Bilobate gallbladder
disease Congenital Abnormality 1 0.100 None 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus
phenotype Finding 34 5 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0