EDNRB, endothelin receptor type B, 1910

N. diseases: 300; N. variants: 25
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: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 12 11 1.000 moderate 1.000 22 8 1994 2018
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 384 162 0.700 None 1.000 54 9 1966 2019
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 36 11 0.650 strong 1.000 7 2 1996 2015
CUI: C1838099
Disease: ABCD syndrome
ABCD syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 1 1 0.610 None 1.000 4 1 1995 2015
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
disease Finding 1 6 0.600 strong 1.000 7 6 1994 2017
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 21 8 0.530 strong 0.667 3 1999 2017
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.510 None 1.000 3 1 2006 2009
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension
phenotype Respiratory Tract Diseases Pathologic Function 156 0.500 None 1.000 3 2004 2008
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.350 None 1.000 5 1999 2017
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.340 None 1.000 4 2000 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.330 None 1.000 4 2004 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.320 None 1.000 3 2004 2005
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.310 None 1.000 2 2004 2005
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 501 26 0.310 None 1.000 2 1995 2017
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 9 2 0.310 None 1.000 1 2017 2017
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.310 None 1.000 1 2007 2007
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.300 None 1.000 1 2 2011 2011
CUI: C1257840
Disease: Aganglionosis, Rectosigmoid Colon
Aganglionosis, Rectosigmoid Colon
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 15 0.300 None 1.000 1 1996 1996
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 0.300 None 1.000 1 2005 2005
CUI: C1961112
Disease: Heart Decompensation
Heart Decompensation
phenotype Cardiovascular Diseases Pathologic Function 113 0.300 None 1.000 1 2017 2017
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia
phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 78 3 0.300 None 1.000 1 2000 2000
CUI: C0270192
Disease: Perinatal Subarachnoid Hemorrhage
Perinatal Subarachnoid Hemorrhage
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 8 0.300 None 1.000 1 1995 1995
CUI: C0023212
Disease: Left-Sided Heart Failure
Left-Sided Heart Failure
disease Cardiovascular Diseases Disease or Syndrome 123 5 0.300 None 1.000 1 2017 2017
CUI: C0235527
Disease: Heart Failure, Right-Sided
Heart Failure, Right-Sided
disease Cardiovascular Diseases Disease or Syndrome 154 0.300 None 1.000 1 2017 2017
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 545 0.300 None 1.000 1 2005 2005