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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.150 None 1.000 5 2008 2013
CUI: C4287594
Disease: Uterine Corpus High Grade Endometrial Stromal Sarcoma
Uterine Corpus High Grade Endometrial Stromal Sarcoma 		disease Neoplastic Process 15 0.050 None 1.000 5 2013 2018
CUI: C0426980
Disease: Motor symptoms
Motor symptoms 		phenotype Sign or Symptom 100 15 0.040 None 1.000 4 2017 2020
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2016 2019
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		disease Disease or Syndrome 247 76 0.020 None 1.000 2 2018 2019
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0231779
Disease: Heel toe gait
Heel toe gait 		phenotype Sign or Symptom 7 0.010 None 1.000 1 2019 2019
CUI: C0233397
Disease: Psychological symptom
Psychological symptom 		phenotype Sign or Symptom 33 12 0.010 None 1.000 1 2019 2019
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2017 2017
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		disease Disease or Syndrome 49 13 0.010 None 1.000 1 2005 2005
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 593 24 0.010 None 1.000 1 2018 2018
CUI: C0406191
Disease: Pseudofolliculitis
Pseudofolliculitis 		disease Disease or Syndrome 8 1 0.010 None 1.000 1 2019 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.010 None 1.000 1 2019 2019
CUI: C0852733
Disease: Completed Suicide
Completed Suicide 		phenotype Mental or Behavioral Dysfunction 33 33 0.010 None 1.000 1 2 2005 2005
CUI: C1334008
Disease: High Grade Sarcoma
High Grade Sarcoma 		disease Neoplastic Process 9 0.010 None 1.000 1 2018 2018
CUI: C1370723
Disease: Stromal sarcoma
Stromal sarcoma 		disease Neoplastic Process 7 0.010 None 1.000 1 2013 2013
CUI: C2931245
Disease: Bone Marrow failure syndromes
Bone Marrow failure syndromes 		disease Disease or Syndrome 41 0.010 None 1.000 1 2019 2019
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		disease Disease or Syndrome 33 59 0.010 None < 0.001 1 2019 2019
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.010 None 1.000 1 2013 2013
CUI: C4048304
Disease: Undifferentiated round cell sarcoma
Undifferentiated round cell sarcoma 		disease Neoplastic Process 9 0.010 None 1.000 1 2016 2016
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		disease Disease or Syndrome 632 9 0.010 None 1.000 1 2016 2016
CUI: C4707092
Disease: Distal 17p13.3 microdeletion syndrome
Distal 17p13.3 microdeletion syndrome 		disease Disease or Syndrome 1 0.300 None 1.000 1 2011 2011
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2019 2019
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0239676
Disease: High forehead
High forehead 		phenotype Finding 211 17 0.100 None 0