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: C4054534
Disease: Meningioangiomatosis
Meningioangiomatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
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: C4024276
Disease: Peripheral Schwannoma
Peripheral Schwannoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4 2 0.100 None 0 1
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: C1335563
Disease: Proximal-Type Epithelioid Sarcoma
Proximal-Type Epithelioid Sarcoma 		disease Neoplasms Neoplastic Process 5 0.030 None 1.000 3 2009 2015
CUI: C0917817
Disease: Neurofibromatosis 3
Neurofibromatosis 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 5 0.300 None 1.000 2 2007 2013
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: 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: C0013456
Disease: Earache
Earache 		phenotype Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases Sign or Symptom 6 0.100 None 0
CUI: C0476405
Disease: Lung function testing abnormal
Lung function testing abnormal 		phenotype Finding 6 0.100 None 0
CUI: C1849570
Disease: Progressive pulmonary function impairment
Progressive pulmonary function impairment 		phenotype Respiratory Tract Diseases Finding 6 0.100 None 0
CUI: C1861336
Disease: Aplasia/Hypoplasia of the distal phalanges of the hand
Aplasia/Hypoplasia of the distal phalanges of the hand 		phenotype Finding 6 0.100 None 0
CUI: C4021206
Disease: Chromosomal breakage induced by ionizing radiation
Chromosomal breakage induced by ionizing radiation 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 6 0.100 None 0
CUI: C4023205
Disease: Neoplasm of the anterior pituitary
Neoplasm of the anterior pituitary 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 6 0.100 None 0
CUI: C4072890
Disease: Decreased circulating luteinizing hormone level
Decreased circulating luteinizing hormone level 		phenotype Finding 6 0.100 None 0
CUI: C0042995
Disease: Vulvar Neoplasms
Vulvar Neoplasms 		group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 7 0.010 None 1.000 1 2015 2015
CUI: C0748968
Disease: Moderately differentiated squamous cell carcinoma
Moderately differentiated squamous cell carcinoma 		disease Neoplastic Process 7 0.010 None 1.000 1 2020 2020
CUI: C0270680
Disease: Posterior fossa compression syndrome
Posterior fossa compression syndrome 		disease Disease or Syndrome 7 0.100 None 0
CUI: C4021850
Disease: Increased sensitivity to ionizing radiation
Increased sensitivity to ionizing radiation 		phenotype Finding 7 0.100 None 0
CUI: C0278152
Disease: Hemifacial Spasm
Hemifacial Spasm 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 8 0.100 None 0