BMP4, bone morphogenetic protein 4, 652

N. diseases: 423; N. variants: 21
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: C0080233
Disease: Tooth Loss
Tooth Loss 		disease Stomatognathic Diseases Acquired Abnormality 49 8 0.010 None < 0.001 1 2012 2012
CUI: C0376154
Disease: Skin callus
Skin callus 		disease Skin and Connective Tissue Diseases Acquired Abnormality 154 0.010 None < 0.001 1 2008 2008
CUI: C0521706
Disease: Unilateral cataract
Unilateral cataract 		disease Eye Diseases Acquired Abnormality 2 1 0.010 None 1.000 1 1 2009 2009
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.240 None 1.000 6 2006 2018
CUI: C3495890
Disease: Osteochondral defects
Osteochondral defects 		phenotype Anatomical Abnormality 17 0.020 None 1.000 2 2019 2019
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.020 None 1.000 2 2007 2008
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		phenotype Anatomical Abnormality 78 37 0.020 None 1.000 2 2 2009 2018
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases Anatomical Abnormality 80 0.200 None 1.000 1 2006 2006
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2017 2017
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.010 None 1.000 1 2011 2011
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 72 2 0.010 None 1.000 1 2017 2017
CUI: C0795693
Disease: Skeletal malformation
Skeletal malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Anatomical Abnormality 6 0.010 None 1.000 1 2007 2007
CUI: C1834931
Disease: Cystic renal dysplasia
Cystic renal dysplasia 		disease Anatomical Abnormality 12 4 0.010 None 1.000 1 2013 2013
CUI: C3278509
Disease: Spinal fusion
Spinal fusion 		disease Anatomical Abnormality 67 2 0.010 None < 0.001 1 2002 2002
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		phenotype Anatomical Abnormality 9 9 0.010 None 1.000 1 2019 2019
CUI: C3888461
Disease: Dry age-related macular degeneration
Dry age-related macular degeneration 		phenotype Anatomical Abnormality 11 1 0.010 None 1.000 1 2009 2009
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible 		phenotype Anatomical Abnormality 19 1 0.010 None 1.000 1 2014 2014
CUI: C0024636
Disease: Malocclusion
Malocclusion 		disease Stomatognathic Diseases Anatomical Abnormality 128 10 0.100 None 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality 153 12 0.100 None 0
CUI: C1856117
Disease: Uplifted earlobe
Uplifted earlobe 		disease Anatomical Abnormality 6 3 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination 		disease Anatomical Abnormality 21 4 0.100 None 0
CUI: C4021881
Disease: Agenesis of lateral incisor
Agenesis of lateral incisor 		phenotype Anatomical Abnormality 10 0.100 None 0
CUI: C4023573
Disease: Abnormal number of permanent teeth
Abnormal number of permanent teeth 		phenotype Anatomical Abnormality 9 0.100 None 0