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: C4540342
Disease: JOUBERT SYNDROME 32
JOUBERT SYNDROME 32 		disease Disease or Syndrome 1 2 0.600 None 1.000 2 2 2017 2019
CUI: C0334482
Disease: Fetal rhabdomyoma
Fetal rhabdomyoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Neoplastic Process 3 0.010 None 1.000 1 2006 2006
CUI: C2931760
Disease: Acrocallosal syndrome, Schinzel type
Acrocallosal syndrome, Schinzel type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2017 2017
CUI: C1862304
Disease: Hamartomatous polyp of stomach
Hamartomatous polyp of stomach 		phenotype Digestive System Diseases; Neoplasms Disease or Syndrome 3 0.100 None 0
CUI: C1866959
Disease: Sella Turcica, Bridged
Sella Turcica, Bridged 		disease Nervous System Diseases; Endocrine System Diseases Anatomical Abnormality 3 0.100 None 0
CUI: C4025374
Disease: Irregular ossification of hand bones
Irregular ossification of hand bones 		phenotype Finding 3 0.100 None 0
CUI: C1334410
Disease: Localized Primitive Neuroectodermal Tumor
Localized Primitive Neuroectodermal Tumor 		disease Neoplasms Neoplastic Process 4 0.300 definitive 1.000 10 1996 2014
CUI: C1334970
Disease: Medulloblastoma with extensive nodularity
Medulloblastoma with extensive nodularity 		disease Neoplasms Neoplastic Process 4 1 0.400 None 1.000 4 1 2002 2012
CUI: C0155285
Disease: Orbital cyst
Orbital cyst 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Eye Diseases Disease or Syndrome 4 0.100 None 0
CUI: C0423776
Disease: Palmar pit
Palmar pit 		phenotype Finding 4 0.100 None 0
CUI: C1096654
Disease: Cardiac fibroma
Cardiac fibroma 		disease Neoplasms; Cardiovascular Diseases Neoplastic Process 4 0.100 None 0
CUI: C1852301
Disease: Plantar pits
Plantar pits 		phenotype Finding 4 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 0.100 None 0 1
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: C0149951
Disease: Ovarian Fibromata
Ovarian Fibromata 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 6 0.100 None 0
CUI: C0476405
Disease: Lung function testing abnormal
Lung function testing abnormal 		phenotype Finding 6 0.100 None 0