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: C4225418
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 		disease Disease or Syndrome 1 7 0.700 limited 1.000 2 7 2015 2015
CUI: C1839130
Disease: Dystonia 3, Torsion, X-Linked
Dystonia 3, Torsion, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 15 1 0.800 None 0.962 26 1 1992 2019
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0 1
CUI: C1844505
Disease: Pointed chin
Pointed chin 		phenotype Finding 71 13 0.100 None 0 1
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.100 None 0 1
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		phenotype Finding 41 10 0.100 None 0 1
CUI: C0426870
Disease: Large hand
Large hand 		phenotype Finding 35 7 0.100 None 0 1
CUI: C1836047
Disease: Long face
Long face 		phenotype Finding 182 12 0.100 None 0 1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		phenotype Finding 30 46 0.100 None 0 1
CUI: C0152421
Disease: Macrotia
Macrotia 		disease Congenital Abnormality 188 18 0.100 None 0 1
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0 1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0 1
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype Finding 282 16 0.100 None 0 1
CUI: C1855285
Disease: Protruding ear
Protruding ear 		phenotype Finding 152 6 0.100 None 0 1
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0 1
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype Finding 159 25 0.100 None 0 1
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 0 1
CUI: C0267071
Disease: Oropharyngeal Dysphagia
Oropharyngeal Dysphagia 		disease Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 43 8 0.100 None 0 1
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.200 None 0.909 11 2001 2017
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		group Nervous System Diseases Disease or Syndrome 167 37 0.090 None 0.889 9 2001 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.080 None 1.000 8 2001 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.440 limited 1.000 5 2015 2019
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma 		disease Neoplasms Neoplastic Process 392 16 0.050 None 1.000 5 1998 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.030 None 1.000 3 2008 2018
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.020 None 1.000 2 2011 2019