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: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.100 None 0.900 10 2002 2018
CUI: C0279821
Disease: metastatic pheochromocytoma
metastatic pheochromocytoma
disease Neoplastic Process 8 0.040 None 1.000 4 2008 2020
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.040 None 0.750 4 2010 2019
Metastatic Adrenal Gland Pheochromocytoma
disease Neoplastic Process 8 0.040 None 1.000 4 2008 2020
Succinate-coenzyme Q reductase deficiency
disease Disease or Syndrome 8 6 0.320 strong 1.000 3 1 2012 2016
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood
disease Neoplastic Process 264 3 0.020 None 0.500 2 2004 2018
Nonnuclear polymorphic congenital cataract
disease Congenital Abnormality 71 0.020 None 1.000 2 2013 2014
CUI: C4524841
Disease: Metastatic Paraganglioma
Metastatic Paraganglioma
disease Neoplastic Process 2 0.020 None 0.500 2 2016 2017
CUI: C0745133
Disease: Isolated systolic hypertension
Isolated systolic hypertension
disease Disease or Syndrome 22 3 0.010 None 1.000 1 2001 2001
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2019 2019
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities
disease Anatomical Abnormality 83 20 0.010 None 1.000 1 2017 2017
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2013 2013
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
phenotype Finding 218 11 0.100 None 0
CUI: C0241577
Disease: Elevated urinary catecholamines
Elevated urinary catecholamines
phenotype Finding 8 0.100 None 0
CUI: C0332573
Disease: Macule
Macule
phenotype Finding 31 2 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0426870
Disease: Large hand
Large hand
phenotype Finding 35 7 0.100 None 0
CUI: C0454641
Disease: Expressive language delay
Expressive language delay
phenotype Disease or Syndrome 30 25 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1836806
Disease: Mild microcephaly
Mild microcephaly
phenotype Finding 12 5 0.100 None 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability
phenotype Finding 74 5 0.100 None 0
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia
phenotype Finding 21 5 0.100 None 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease Disease or Syndrome 106 7 0.100 None 0
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk
phenotype Finding 37 11 0.100 None 0
CUI: C1853237
Disease: Isolated cases
Isolated cases
phenotype Finding 111 0.100 None 0