ACVR2B, activin A receptor type 2B, 93

N. diseases: 70; N. variants: 5
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: C3151057
Disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL
HETEROTAXY, VISCERAL, 4, AUTOSOMAL 		disease Disease or Syndrome 29 2 0.900 None 1.000 2 2 1997 1999
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 39 8 0.700 None 1.000 2 1997 1999
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 55 9 0.610 None 1.000 2 1999 2019
CUI: C0175707
Disease: Asplenia Syndrome
Asplenia Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 13 5 0.500 None 1.000 2 1997 1999
CUI: C3178806
Disease: Right Atrial Isomerism
Right Atrial Isomerism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 14 0.500 None 1.000 2 1997 1999
CUI: C0265357
Disease: Polysplenia Syndrome
Polysplenia Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 7 0.500 None 1.000 2 1997 1999
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 138 6 0.300 None 1.000 1 1999 1999
CUI: C3178807
Disease: Left Atrial Isomerism
Left Atrial Isomerism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 6 0.300 None 1.000 1 1999 1999
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.300 limited 0
CUI: C1167664
Disease: Situs ambiguous
Situs ambiguous 		disease Congenital Abnormality 9 0.300 None 0
CUI: C1876172
Disease: VAH, AUTOSOMAL RECESSIVE
VAH, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 3 0.200 None 1.000 1 1997 1997
CUI: C3553676
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
HETEROTAXY, VISCERAL, 6, AUTOSOMAL 		disease Disease or Syndrome 30 2 0.200 None 1.000 1 1997 1997
CUI: C3151867
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED 		disease Disease or Syndrome 30 3 0.200 None 1.000 1 1997 1997
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 30 17 0.200 None 1.000 1 1997 1997
CUI: C2910124
Disease: Isomerism of atrial appendages with asplenia or polysplenia
Isomerism of atrial appendages with asplenia or polysplenia 		disease Congenital Abnormality 3 0.200 None 1.000 1 1997 1997
CUI: C0344692
Disease: Isomerism of atrial appendages
Isomerism of atrial appendages 		disease Congenital Abnormality 3 0.200 None 1.000 1 1997 1997
CUI: C1415817
Disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
HETEROTAXY, VISCERAL, 2, AUTOSOMAL 		disease Disease or Syndrome 39 5 0.200 None 1.000 1 1997 1997
CUI: C1876173
Disease: Heterotaxy, Visceroatrial, Autosomal Recessive
Heterotaxy, Visceroatrial, Autosomal Recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 3 0.200 None 1.000 1 1997 1997
CUI: C1853444
Disease: Heterotaxy, Visceral, 3, Autosomal
Heterotaxy, Visceral, 3, Autosomal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 29 0.200 None 1.000 1 1997 1997
CUI: C1876171
Disease: Polyasplenia
Polyasplenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 3 0.200 None 1.000 1 1997 1997
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 2 2 2019 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2019 2019
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 55 14 0.100 None 0
CUI: C0011813
Disease: Dextrocardia
Dextrocardia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 30 6 0.100 None 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.100 None 0