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: C3809645
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		disease Disease or Syndrome 1 5 0.700 None 1.000 5 5 2013 2016
CUI: C0856900
Disease: Sarcoma of skin
Sarcoma of skin 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2015 2015
CUI: C3840151
Disease: Congenital glenoid dysplasia
Congenital glenoid dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases Congenital Abnormality 1 0.010 None 1.000 1 2017 2017
CUI: C0334454
Disease: Dermatofibrosarcoma Protuberans, Myxoid
Dermatofibrosarcoma Protuberans, Myxoid 		disease Neoplasms Neoplastic Process 1 0.300 None 0
CUI: C0334464
Disease: Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor)
Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor) 		disease Neoplasms Neoplastic Process 2 0.320 None 1.000 2 2002 2006
CUI: C0017566
Disease: Gingival Hyperplasia
Gingival Hyperplasia 		phenotype Stomatognathic Diseases Pathologic Function 2 0.300 None 1.000 1 1996 1996
CUI: C0334139
Disease: Microglial nodules
Microglial nodules 		disease Acquired Abnormality 2 0.010 None 1.000 1 2004 2004
CUI: C0522205
Disease: Sexual inhibition
Sexual inhibition 		phenotype Mental Disorders Mental or Behavioral Dysfunction 2 0.010 None 1.000 1 2007 2007
CUI: C1707508
Disease: Conventional Dermatofibrosarcoma Protuberans
Conventional Dermatofibrosarcoma Protuberans 		disease Neoplastic Process 2 0.010 None 1.000 1 2001 2001
CUI: C4707450
Disease: Ring chromosome 5 syndrome
Ring chromosome 5 syndrome 		disease Disease or Syndrome 2 0.010 None 1.000 1 1998 1998
CUI: C0023381
Disease: Letterer-Siwe Disease
Letterer-Siwe Disease 		disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.010 None 1.000 1 1995 1995
CUI: C1859273
Disease: Dense calcifications in the cerebellar dentate nucleus
Dense calcifications in the cerebellar dentate nucleus 		phenotype Finding 3 0.100 None 0
CUI: C4025703
Disease: Calcification of the small brain vessels
Calcification of the small brain vessels 		phenotype Pathologic Function 3 0.100 None 0
CUI: C1859436
Disease: Weak extraocular muscles
Weak extraocular muscles 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 4 0.100 None 0
CUI: C4022775
Disease: Focal T2 hypointense thalamic lesion
Focal T2 hypointense thalamic lesion 		phenotype Finding 4 0.100 None 0
CUI: C4023215
Disease: Abnormality of central sensory function
Abnormality of central sensory function 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C4073063
Disease: Abnormal kinetic perimetry test
Abnormal kinetic perimetry test 		phenotype Finding 4 0.100 None 0
CUI: C4552960
Disease: Ear Pain, CTCAE
Ear Pain, CTCAE 		phenotype Finding 4 0.100 None 0
CUI: C0220998
Disease: Hypothalamic hypothyroidism
Hypothalamic hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 5 0.100 None 0
CUI: C1334957
Disease: Neoplasm of the posterior pituitary
Neoplasm of the posterior pituitary 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 5 0.100 None 0
CUI: C3551915
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO 		phenotype Finding 5 16 0.300 moderate 0
CUI: C4072889
Disease: Decreased circulating follicle stimulating hormone level
Decreased circulating follicle stimulating hormone level 		phenotype Finding 5 0.100 None 0
CUI: C4073006
Disease: Visual acuity test abnormality
Visual acuity test abnormality 		phenotype Finding 5 0.100 None 0
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 26 0.300 None 1.000 1 2013 2013
CUI: C0013456
Disease: Earache
Earache 		phenotype Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases Sign or Symptom 6 0.100 None 0