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: C0344987
Disease: Bicuspid pulmonary valve
Bicuspid pulmonary valve 		disease Congenital Abnormality 1 0.100 None 0
CUI: C1846422
Disease: Bilobate gallbladder
Bilobate gallbladder 		disease Congenital Abnormality 1 0.100 None 0
CUI: C4020797
Disease: Microtia, second degree
Microtia, second degree 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Anatomical Abnormality 1 0.100 None 0
CUI: C4476883
Disease: Abnormal pulmonary vein morphology
Abnormal pulmonary vein morphology 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C0021833
Disease: Intestinal Fistula
Intestinal Fistula 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Anatomical Abnormality 2 0.100 None 0
CUI: C4024788
Disease: Anterior chamber synechiae
Anterior chamber synechiae 		disease Disease or Syndrome 2 0.100 None 0
CUI: C0272137
Disease: Tn Syndrome
Tn Syndrome 		disease Immune System Diseases Disease or Syndrome 4 5 0.020 None 1.000 2 1993 1998
CUI: C1849953
Disease: Square pelvis bone
Square pelvis bone 		disease Anatomical Abnormality 4 0.100 None 0
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: C1849950
Disease: Agenesis of maxillary lateral incisor
Agenesis of maxillary lateral incisor 		phenotype Finding 5 1 0.100 None 0
CUI: C0426501
Disease: Short frenulum of tongue
Short frenulum of tongue 		phenotype Finding 6 1 0.100 None 0
CUI: C3887608
Disease: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1 		disease Disease or Syndrome 8 6 0.010 None 1.000 1 2019 2019
CUI: C1851400
Disease: Facial Hypertrichosis
Facial Hypertrichosis 		phenotype Skin and Connective Tissue Diseases Finding 8 2 0.100 None 0
CUI: C1856136
Disease: Conical incisor
Conical incisor 		phenotype Finding 10 0.100 None 0
CUI: C1850629
Disease: Exaggerated cupid's bow
Exaggerated cupid's bow 		phenotype Finding 11 6 0.100 None 0
CUI: C1849955
Disease: Limited elbow movement
Limited elbow movement 		phenotype Finding 13 0.100 None 0
CUI: C0009681
Disease: Anomalous pulmonary artery
Anomalous pulmonary artery 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 14 1 0.100 None 0
CUI: C0549613
Disease: Biliary tract abnormality
Biliary tract abnormality 		phenotype Digestive System Diseases Finding 14 0.100 None 0
CUI: C1456687
Disease: Polio and Post-Polio Syndrome
Polio and Post-Polio Syndrome 		disease Infections Disease or Syndrome 16 1 0.020 None 1.000 2 1 2014 2017
CUI: C0345309
Disease: Hypoplasia of vagina
Hypoplasia of vagina 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 17 0.100 None 0
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases Disease or Syndrome 20 17 0.020 None 1.000 2 1 2014 2017
CUI: C0266298
Disease: Accessory kidney
Accessory kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 20 1 0.100 None 0
CUI: C1857479
Disease: Short columella
Short columella 		phenotype Finding 20 5 0.100 None 0
CUI: C1855650
Disease: Birth length less than 3rd percentile
Birth length less than 3rd percentile 		phenotype Finding 21 13 0.100 None 0
CUI: C0221766
Disease: Diastasis recti
Diastasis recti 		disease Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome 22 1 0.100 None 0