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 19 2002 2019
CUI: C1135161
Disease: Stage 4S neuroblastoma
Stage 4S neuroblastoma
disease Neoplastic Process 45 0.100 None 0.882 17 1995 2019
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease
phenotype Neoplastic Process 384 40 0.040 None 0.750 4 1999 2018
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD
disease Disease or Syndrome 384 40 0.040 None 0.750 4 1999 2018
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.040 None 1.000 4 2009 2017
CUI: C4048305
Disease: Neuroepithelioma
Neuroepithelioma
disease Neoplastic Process 28 0.030 None 1.000 3 1989 1992
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.020 None 1.000 2 2014 2015
CUI: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2014 2014
CUI: C0279068
Disease: Childhood Solid Neoplasm
Childhood Solid Neoplasm
phenotype Neoplastic Process 169 3 0.010 None 1.000 1 2013 2013
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype Finding 91 16 0.100 None 1.000 1 1 2005 2005
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.010 None < 0.001 1 2016 2016
CUI: C0521857
Disease: Increased drug resistance
Increased drug resistance
phenotype Disease or Syndrome 47 0.010 None 1.000 1 2004 2004
CUI: C0940937
Disease: precancerous lesions
precancerous lesions
phenotype Neoplastic Process 270 19 0.010 None 1.000 1 2013 2013
CUI: C1332215
Disease: Adult Spinal Cord Ependymoma
Adult Spinal Cord Ependymoma
disease Neoplastic Process 3 0.010 None 1.000 1 2019 2019
CUI: C1511789
Disease: Desmoplastic
Desmoplastic
disease Disease or Syndrome 117 4 0.010 None 1.000 1 2005 2005
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification
disease Disease or Syndrome 170 14 0.010 None 1.000 1 1999 1999
CUI: C1708566
Disease: Invasive Prostate Carcinoma
Invasive Prostate Carcinoma
disease Neoplastic Process 45 0.010 None 1.000 1 2016 2016
CUI: C1846950
Disease: Short middle phalanx of finger
Short middle phalanx of finger
phenotype Finding 20 2 0.100 None 1.000 1 1 2005 2005
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO
phenotype Finding 11 34 0.100 None 1.000 1 1 2016 2016
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma
disease Neoplastic Process 87 9 0.010 None 1.000 1 2014 2014
CUI: C4726566
Disease: Extracranial Solid Neoplasm
Extracranial Solid Neoplasm
disease Neoplastic Process 8 0.010 None 1.000 1 2016 2016
CUI: C4755297
Disease: Somatomammotropinoma
Somatomammotropinoma
disease Neoplastic Process 2 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: C0241577
Disease: Elevated urinary catecholamines
Elevated urinary catecholamines
phenotype Finding 8 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0 1