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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.100 None 1.000 15 2011 2020
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		disease Finding 2 2 0.700 None 1.000 13 1 2011 2019
CUI: C1863198
Disease: ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder) 		disease Disease or Syndrome 2 14 0.700 None 1.000 8 1 1967 2016
CUI: C1836806
Disease: Mild microcephaly
Mild microcephaly 		phenotype Finding 12 5 0.100 None 1.000 4 1 2011 2016
CUI: C1837463
Disease: Narrow face
Narrow face 		phenotype Finding 87 6 0.100 None 1.000 4 1 2011 2016
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 1.000 4 1 2011 2016
CUI: C4310625
Disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 		disease Disease or Syndrome 1 4 0.710 None 1.000 3 4 1994 2016
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		phenotype Laboratory Procedure 717 1599 0.100 None 1.000 2 2 2016 2019
CUI: C0220613
Disease: Adult Soft Tissue Sarcoma
Adult Soft Tissue Sarcoma 		disease Neoplastic Process 162 3 0.020 None 1.000 2 2015 2020
CUI: C0220645
Disease: Childhood Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma 		disease Neoplastic Process 166 3 0.020 None 1.000 2 2015 2020
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2011 2017
CUI: C3898127
Disease: Non-Metastatic Childhood Soft Tissue Sarcoma
Non-Metastatic Childhood Soft Tissue Sarcoma 		disease Neoplastic Process 160 3 0.020 None 1.000 2 2015 2020
CUI: C0018498
Disease: Hair Color
Hair Color 		phenotype Organism Attribute 130 312 0.100 None 1.000 1 1 2018 2018
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		phenotype Laboratory Procedure 138 216 0.100 None 1.000 1 1 2016 2016
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2019 2019
CUI: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.010 None < 0.001 1 2014 2014
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2019 2019
CUI: C0312414
Disease: Menstrual spotting
Menstrual spotting 		phenotype Sign or Symptom 27 2 0.010 None 1.000 1 2019 2019
CUI: C0429097
Disease: QRS complex feature
QRS complex feature 		phenotype Finding 41 69 0.100 None 1.000 1 1 2016 2016
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		phenotype Laboratory Procedure 131 224 0.100 None 1.000 1 1 2016 2016
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2019 2019
CUI: C1333065
Disease: Lung Clear Cell Tumor
Lung Clear Cell Tumor 		disease Neoplastic Process 5 0.010 None 1.000 1 2018 2018
CUI: C1337036
Disease: Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions
Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions 		disease Neoplastic Process 6 0.010 None 1.000 1 2014 2014
CUI: C1378050
Disease: Oncocytic Neoplasm
Oncocytic Neoplasm 		disease Neoplastic Process 105 2 0.010 None 1.000 1 2012 2012