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: C1864689
Disease: MICROPHTHALMIA, SYNDROMIC 6 (disorder)
MICROPHTHALMIA, SYNDROMIC 6 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 1 2 0.700 None 1.000 4 2 1986 2013
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 1 5 0.710 None 1.000 4 5 1986 2009
CUI: C1833563
Disease: Cleft Lip, Congenital Healed
Cleft Lip, Congenital Healed 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C1864825
Disease: Frias syndrome
Frias syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.010 None 1.000 1 2014 2014
CUI: C0521706
Disease: Unilateral cataract
Unilateral cataract 		disease Eye Diseases Acquired Abnormality 2 1 0.010 None 1.000 1 1 2009 2009
CUI: C2014414
Disease: orthopedic disorders
orthopedic disorders 		group Disease or Syndrome 2 0.010 None 1.000 1 2010 2010
CUI: C1335051
Disease: Non-Neoplastic Urinary System Disorder
Non-Neoplastic Urinary System Disorder 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 2 0.200 None 0
CUI: C2678503
Disease: AXENFELD-RIEGER SYNDROME, TYPE 3
AXENFELD-RIEGER SYNDROME, TYPE 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 27 0.200 None 1.000 3 1997 2007
CUI: C0344452
Disease: Microprolactinoma
Microprolactinoma 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 3 1 0.300 None 1.000 1 2006 2006
CUI: C0455792
Disease: Small scrotum
Small scrotum 		phenotype Finding 3 1 0.100 None 0
CUI: C0477984
Disease: Other congenital malformations of anterior segment of eye
Other congenital malformations of anterior segment of eye 		disease Congenital Abnormality 4 0.200 None 1.000 3 1997 2007
CUI: C0266215
Disease: Anorectal atresia
Anorectal atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 4 0.010 None 1.000 1 2013 2013
CUI: C1260894
Disease: Hypertrophic obesity
Hypertrophic obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 5 0.020 None 1.000 2 2012 2015
CUI: C0423062
Disease: Intermittent divergent squint
Intermittent divergent squint 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2020 2020
CUI: C1855350
Disease: Inferior vermis hypoplasia
Inferior vermis hypoplasia 		phenotype Finding 5 0.100 None 0
CUI: C0345963
Disease: Benign neoplasm of lung
Benign neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 6 1 0.010 None 1.000 1 2003 2003
CUI: C0375530
Disease: Congenital Ureteropelvic Junction Obstruction
Congenital Ureteropelvic Junction Obstruction 		disease Congenital Abnormality 6 0.010 None 1.000 1 2012 2012
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: C0795898
Disease: Cleft Palate-Lateral Synechia Syndrome
Cleft Palate-Lateral Synechia Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 6 0.210 None 1.000 1 2014 2014
CUI: C1856117
Disease: Uplifted earlobe
Uplifted earlobe 		disease Anatomical Abnormality 6 3 0.100 None 0
CUI: C0018862
Disease: Heberden node
Heberden node 		phenotype Musculoskeletal Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 2014 2014
CUI: C0265509
Disease: Congenital anomaly of skeletal bone
Congenital anomaly of skeletal bone 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 8 0.010 None 1.000 1 2007 2007
CUI: C0334569
Disease: Odontogenic myxoma
Odontogenic myxoma 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2018 2018
CUI: C0344453
Disease: Macroprolactinoma
Macroprolactinoma 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 9 0.300 None 1.000 1 2006 2006
CUI: C0457521
Disease: Unicystic ameloblastoma
Unicystic ameloblastoma 		disease Neoplasms Neoplastic Process 9 4 0.010 None 1.000 1 2017 2017