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: C0030625
Disease: Passive Cutaneous Anaphylaxis
Passive Cutaneous Anaphylaxis
phenotype Laboratory Procedure 1 0.300 limited 1.000 1 2009 2009
CUI: C0344688
Disease: Patent Ductus Venosus
Patent Ductus Venosus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 1 0.010 None 1.000 1 2019 2019
CUI: C1832250
Disease: OBESITY, MODIFIER OF
OBESITY, MODIFIER OF
phenotype Finding 1 1 0.100 None 0 1
CUI: C1832251
Disease: BODY MASS INDEX, MODIFIER OF
BODY MASS INDEX, MODIFIER OF
phenotype Finding 1 1 0.100 None 0 1
INTIMAL MEDIAL THICKNESS OF INTERNAL CAROTID ARTERY, MODIFIER OF
phenotype Finding 1 1 0.100 None 0 1
CUI: C1836302
Disease: Carotid Intimal Medial Thickness 1
Carotid Intimal Medial Thickness 1
disease Cardiovascular Diseases Disease or Syndrome 1 0.500 None 0
DIABETES MELLITUS, NONINSULIN-DEPENDENT, MODIFIER OF
phenotype Finding 1 1 0.100 None 0 1
Increased carotid artery intimal medial thickness
phenotype Finding 1 0.100 None 0
CUI: C0850760
Disease: cardiovascular problem
cardiovascular problem
phenotype Sign or Symptom 2 1 0.010 None 1.000 1 2019 2019
CUI: C0860026
Disease: Leishmania mexicana disease
Leishmania mexicana disease
disease Disease or Syndrome 2 0.010 None 1.000 1 2013 2013
CUI: C1263722
Disease: Chronic metabolic disorder
Chronic metabolic disorder
group Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2014 2014
CUI: C4016701
Disease: INSULIN RESISTANCE, SEVERE, DIGENIC
INSULIN RESISTANCE, SEVERE, DIGENIC
phenotype Finding 2 0.300 strong 0
CUI: C0236811
Disease: Chronobiology Disorders
Chronobiology Disorders
group Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2012 2012
Inappropriate ACTH Secretion Syndrome
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2006 2006
Psychogenic Inversion of Circadian Rhythm
disease Nervous System Diseases Mental or Behavioral Dysfunction 3 0.300 None 1.000 1 2012 2012
Lipodystrophy, not elsewhere classified
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 0.200 None 1.000 1 2007 2007
CUI: C4518548
Disease: Non-intestinal type adenocarcinoma
Non-intestinal type adenocarcinoma
disease Neoplastic Process 4 0.010 None 1.000 1 2019 2019
CUI: C1846013
Disease: Marked muscular hypertrophy
Marked muscular hypertrophy
phenotype Finding 4 0.100 None 0
Loss of gluteal subcutaneous adipose tissue
phenotype Finding 4 0.100 None 0
CUI: C4024871
Disease: Prominent veins on trunk
Prominent veins on trunk
phenotype Finding 4 0.100 None 0
CUI: C0005904
Disease: Body Temperature Changes
Body Temperature Changes
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 6 1 0.010 None 1.000 1 2020 2020
CUI: C1837767
Disease: Loss of facial adipose tissue
Loss of facial adipose tissue
phenotype Finding 6 0.100 None 0
CUI: C0023600
Disease: Leydig cell hyperplasia
Leydig cell hyperplasia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 7 2 0.010 None 1.000 1 2018 2018
CUI: C1844680
Disease: DEAFNESS-HYPOGONADISM SYNDROME
DEAFNESS-HYPOGONADISM SYNDROME
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
CUI: C3495928
Disease: Thyroid associated orbitopathy
Thyroid associated orbitopathy
disease Disease or Syndrome 7 4 0.010 None 1.000 1 2 2009 2009