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: C4479655
Disease: MEIER-GORLIN SYNDROME 8
MEIER-GORLIN SYNDROME 8 		disease Disease or Syndrome 1 1 0.500 None 1.000 1 1 2017 2017
CUI: C1969653
Disease: MUNGAN SYNDROME
MUNGAN SYNDROME 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 15 6 0.010 None 1.000 1 2017 2017
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 48 9 0.100 None 0
CUI: C0007868
Disease: Cervical dysplasia
Cervical dysplasia 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 56 1 0.010 None 1.000 1 2005 2005
CUI: C0013395
Disease: Dyspepsia
Dyspepsia 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 61 5 0.010 None 1.000 1 2004 2004
CUI: C0574785
Disease: Lower Urinary Tract Symptoms
Lower Urinary Tract Symptoms 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 77 30 0.010 None 1.000 1 2002 2002
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 12 0.020 None 1.000 2 2017 2017
CUI: C0279672
Disease: Cervical Adenocarcinoma
Cervical Adenocarcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 82 0.010 None 1.000 1 2018 2018
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		disease Neoplasms Neoplastic Process 84 12 0.020 None 1.000 2 2009 2010
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		phenotype Finding 95 15 0.100 None 0
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 96 8 0.100 None 0
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 137 13 0.100 None 0
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 156 24 0.200 None 1.000 1 2012 2012
CUI: C0026034
Disease: Microstomia
Microstomia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 172 9 0.100 None 0
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 218 54 0.310 None 1.000 1 2012 2012
CUI: C0018965
Disease: Hematuria
Hematuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 235 31 0.010 None 1.000 1 2002 2002
CUI: C1262477
Disease: Weight decreased
Weight decreased 		phenotype Pathological Conditions, Signs and Symptoms Finding 271 3 0.100 None 0
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 317 32 0.010 None 1.000 1 2019 2019
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 333 158 0.010 None 1.000 1 2019 2019
CUI: C0279671
Disease: Cervical Squamous Cell Carcinoma
Cervical Squamous Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 371 44 0.020 None 1.000 2 2005 2017
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma 		disease Neoplasms Neoplastic Process 392 16 0.020 None 1.000 2 2005 2016
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia 		disease Neoplasms Neoplastic Process 398 29 0.010 None 1.000 1 2005 2005
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 453 235 0.010 None 1.000 1 2018 2018
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 0