B4GALT7, beta-1,4-galactosyltransferase 7, 11285

N. diseases: 79; N. variants: 9
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: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		phenotype Finding 58 5 0.100 None 0
CUI: C4021596
Disease: Abnormality of primary teeth
Abnormality of primary teeth 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C1849364
Disease: Absent earlobe
Absent earlobe 		phenotype Congenital Abnormality 14 1 0.100 None 0
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.100 None 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype Finding 64 4 0.100 None 0
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 234 19 0.100 None 0
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 102 25 0.100 None 0
CUI: C0162154
Disease: Atrophic scar
Atrophic scar 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 23 3 0.100 None 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		disease Congenital Abnormality 97 7 0.100 None 0
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype Congenital Abnormality 63 5 0.100 None 0
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 85 11 0.010 None 1.000 1 2005 2005
CUI: C0009319
Disease: Colitis
Colitis 		disease Digestive System Diseases Disease or Syndrome 1135 15 0.010 None 1.000 1 2013 2013
CUI: C2931009
Disease: Congenital disorder of glycosylation type 2D
Congenital disorder of glycosylation type 2D 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 2002 2002
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 28 0.100 None 0
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 151 2 0.100 None 0
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 21 0.010 None 1.000 1 2016 2016
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 138 26 0.100 None 0
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 188 24 0.010 None 1.000 1 2010 2010
CUI: C0239137
Disease: Coxa valga
Coxa valga 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 68 5 0.100 None 0
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 1 2006 2006
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 70 21 0.100 None 0
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.010 None 1.000 1 2012 2012