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: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia 		disease Neoplastic Process 236 4 0.010 None 1.000 1 2017 2017
CUI: C2745900
Disease: Promyelocytic leukemia
Promyelocytic leukemia 		disease Neoplastic Process 255 2 0.010 None 1.000 1 2013 2013
CUI: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease 		disease Disease or Syndrome 81 10 0.010 None 1.000 1 2017 2017
CUI: C3806722
Disease: PARKINSONISM WITH SPASTICITY, X-LINKED
PARKINSONISM WITH SPASTICITY, X-LINKED 		disease Disease or Syndrome 1 1 0.710 None 1.000 1 1 2013 2013
CUI: C3888461
Disease: Dry age-related macular degeneration
Dry age-related macular degeneration 		phenotype Anatomical Abnormality 11 1 0.010 None 1.000 1 2009 2009
CUI: C4020969
Disease: Inflammatory abnormality of the eye
Inflammatory abnormality of the eye 		disease Disease or Syndrome 88 1 0.010 None 1.000 1 2017 2017
CUI: C4268741
Disease: Age-related sarcopenia
Age-related sarcopenia 		disease Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C4290046
Disease: trachomatis
trachomatis 		disease Disease or Syndrome 175 7 0.010 None 1.000 1 2006 2006
CUI: C4552482
Disease: CSSSI
CSSSI 		disease Disease or Syndrome 9 0.010 None 1.000 1 2014 2014
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: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 218 11 0.100 None 0
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		phenotype Finding 32 5 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 0
CUI: C1328618
Disease: Agraphesthesia
Agraphesthesia 		disease Mental or Behavioral Dysfunction 1 0.100 None 0
CUI: C1834696
Disease: Hyporeflexia of lower limbs
Hyporeflexia of lower limbs 		phenotype Finding 19 1 0.100 None 0
CUI: C1836835
Disease: Hyporeflexia of upper limbs
Hyporeflexia of upper limbs 		phenotype Finding 5 1 0.100 None 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype Finding 172 1 0.100 None 0
CUI: C1854494
Disease: Slow progression
Slow progression 		phenotype Finding 165 0.100 None 0
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles 		phenotype Finding 23 3 0.100 None 0
CUI: C1860450
Disease: Calcaneovalgus deformity
Calcaneovalgus deformity 		disease Anatomical Abnormality 12 2 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C4024941
Disease: Dilated third ventricle
Dilated third ventricle 		phenotype Finding 4 0.100 None 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype Finding 299 0.100 None 0
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.010 None 1.000 1 2019 2019
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2019 2019