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: C3808786
Disease: ALBINISM, OCULOCUTANEOUS, TYPE VII
ALBINISM, OCULOCUTANEOUS, TYPE VII
disease Disease or Syndrome 1 4 0.600 2 4 2013 2017
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 30 6 0.300 strong 3 2013 2018
CUI: C2673809
Disease: Infantile nystagmus
Infantile nystagmus
phenotype Finding 11 0.300 strong 3 2013 2018
CUI: C0038580
Disease: Substance Dependence
Substance Dependence
disease Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 139 13 0.300 1 2010 2010
CUI: C0038586
Disease: Substance Use Disorders
Substance Use Disorders
group Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 142 10 0.300 1 2010 2010
CUI: C4316881
Disease: Prescription Drug Abuse
Prescription Drug Abuse
phenotype Mental Disorders; Substance-Related Disorders Finding 115 0.300 1 2010 2010
CUI: C0236969
Disease: Substance-Related Disorders
Substance-Related Disorders
group Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 122 2 0.300 1 2010 2010
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem
disease Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 154 10 0.300 1 2010 2010
CUI: C1510472
Disease: Drug Dependence
Drug Dependence
phenotype Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 174 18 0.300 1 2010 2010
Organic Mental Disorders, Substance-Induced
disease Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 115 0.300 1 2010 2010
CUI: C0013222
Disease: Drug Use Disorders
Drug Use Disorders
group Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 118 0.300 1 2010 2010
CUI: C0013170
Disease: Drug habituation
Drug habituation
phenotype Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 137 7 0.300 1 2010 2010
CUI: C0013146
Disease: Drug abuse
Drug abuse
disease Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 228 25 0.300 1 2010 2010
CUI: C0001916
Disease: Albinism
Albinism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 50 16 0.110 1.000 1 2013 2013
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
phenotype Organ or Tissue Function 100 929 0.100 3 2 2011 2017
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 59 745 0.100 2 1 2017 2017
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Immune System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1112 674 0.100 1 1 2014 2014
CUI: C1962921
Disease: Vital Capacity Adverse Event
Vital Capacity Adverse Event
phenotype Finding 15 25 0.100 1 1 2017 2017
CUI: C4020887
Disease: Photodysphoria
Photodysphoria
phenotype Sign or Symptom 180 0.100 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 499 33 0.100 0
CUI: C0333913
Disease: Achromasia
Achromasia
phenotype Cell or Molecular Dysfunction 17 0.100 0
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 187 1 0.100 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.010 1.000 1 1 2012 2012
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
group Mental Disorders Mental or Behavioral Dysfunction 236 29 0.010 1.000 1 2010 2010
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 496 16 0.010 1.000 1 2010 2010