EDN3, endothelin 3, 1908

N. diseases: 107; N. variants: 16
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: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 1 9 0.900 moderate 1.000 13 9 1994 2017
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
disease Finding 1 3 0.600 strong 1.000 2 3 1998 2009
CUI: C3806178
Disease: Spotty hypopigmentation
Spotty hypopigmentation
phenotype Finding 6 1 0.100 None 0 1
CUI: C1859049
Disease: CCHS WITH HIRSCHSPRUNG DISEASE
CCHS WITH HIRSCHSPRUNG DISEASE
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 7 1 0.300 None 1.000 1 1996 1996
CUI: C1836737
Disease: White eyebrow
White eyebrow
phenotype Finding 7 0.100 None 0
CUI: C1855331
Disease: Olfactory lobe agenesis
Olfactory lobe agenesis
phenotype Finding 7 0.100 None 0
CUI: C1836736
Disease: White eyelashes
White eyelashes
phenotype Finding 8 0.100 None 0
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 9 2 0.010 None 1.000 1 1996 1996
CUI: C0025160
Disease: Megacolon
Megacolon
phenotype Digestive System Diseases Pathologic Function 9 9 0.100 None 0 1
CUI: C0020440
Disease: Hypercapnia
Hypercapnia
phenotype Pathological Conditions, Signs and Symptoms Finding 11 0.100 None 0
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 0.560 None 1.000 8 1996 2011
CUI: C0344312
Disease: White forelock
White forelock
phenotype Skin and Connective Tissue Diseases Finding 12 1 0.100 None 0 1
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 4 1996 1998
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 16 1 0.100 None 0
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases Finding 17 10 0.100 None 0 1
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 18 16 0.300 None 1.000 4 1996 1998
Abnormality of temperature regulation
phenotype Finding 19 3 0.100 None 0
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 21 8 0.540 strong 1.000 6 1996 2020
CUI: C0026633
Disease: Mouth Abnormalities
Mouth Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 26 0.100 None 0
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding)
phenotype Finding 28 2 0.100 None 0
CUI: C3203358
Disease: Hypoventilation
Hypoventilation
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Pathologic Function 28 2 0.100 None 0
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 29 15 0.600 None 1.000 2 1996 1998
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Anatomical Abnormality 30 3 0.100 None 0
CUI: C0263498
Disease: Premature canities
Premature canities
phenotype Finding 33 4 0.100 None 0
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 36 11 0.520 strong 1.000 7 1996 2009