BMPER, BMP binding endothelial regulator, 168667

N. diseases: 75; N. variants: 12
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: C1842691
Disease: Diaphanospondylodysostosis
Diaphanospondylodysostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 4 0.730 strong 1.000 4 4 2010 2019
CUI: C0345286
Disease: Abnormal liver lobulation
Abnormal liver lobulation 		disease Congenital Abnormality 1 0.100 None 0
CUI: C1842695
Disease: Absent in utero rib ossification
Absent in utero rib ossification 		phenotype Finding 1 0.100 None 0
CUI: C1842698
Disease: Absent in utero ossification of vertebral bodies
Absent in utero ossification of vertebral bodies 		phenotype Finding 1 0.100 None 0
CUI: C2675562
Disease: Unossified sacrum
Unossified sacrum 		phenotype Finding 1 0.100 None 0
CUI: C2675557
Disease: Lumbosacral meningocele
Lumbosacral meningocele 		phenotype Finding 2 0.100 None 0
CUI: C2675558
Disease: Nephroblastomatosis
Nephroblastomatosis 		phenotype Finding 2 0.100 None 0
CUI: C0524661
Disease: Narcotic Abuse
Narcotic Abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 6 0.300 None 1.000 1 2008 2008
CUI: C1527402
Disease: Narcotic Dependence
Narcotic Dependence 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 7 1 0.300 None 1.000 1 2008 2008
CUI: C1848103
Disease: Narrow pelvis bone
Narrow pelvis bone 		phenotype Finding 8 0.100 None 0
CUI: C1832983
Disease: Absent or minimally ossified vertebral bodies
Absent or minimally ossified vertebral bodies 		phenotype Finding 9 0.100 None 0
CUI: C4025167
Disease: Abnormal vertebral segmentation and fusion
Abnormal vertebral segmentation and fusion 		disease Anatomical Abnormality 11 0.100 None 0
CUI: C0027412
Disease: Opioid-Related Disorders
Opioid-Related Disorders 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 12 23 0.300 None 1.000 1 2008 2008
CUI: C4551628
Disease: Opiate Abuse
Opiate Abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 12 0.300 None 1.000 1 2008 2008
CUI: C1834931
Disease: Cystic renal dysplasia
Cystic renal dysplasia 		disease Anatomical Abnormality 12 4 0.100 None 0
CUI: C1320468
Disease: Nephrogenic rest
Nephrogenic rest 		disease Anatomical Abnormality 15 0.100 None 0
CUI: C0029095
Disease: Opioid abuse
Opioid abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 16 0.300 None 1.000 1 2008 2008
CUI: C0426816
Disease: Absence of rib
Absence of rib 		phenotype Congenital Abnormality 18 1 0.100 None 0
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		phenotype Finding 19 2 0.100 None 0
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen 		phenotype Finding 25 2 0.100 None 0
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		phenotype Finding 25 4 0.100 None 0
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		phenotype Finding 26 7 0.100 None 0
CUI: C0542518
Disease: Enlarged kidney
Enlarged kidney 		phenotype Finding 27 2 0.100 None 0
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases Disease or Syndrome 30 5 0.100 None 0
CUI: C1856786
Disease: Hypoplastic fingernail
Hypoplastic fingernail 		phenotype Finding 30 2 0.100 None 0