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: C3553932
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 98
DEAFNESS, AUTOSOMAL RECESSIVE 98 		disease Disease or Syndrome 2 0.510 None 1.000 2 2012 2018
CUI: C4748560
Disease: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS 		disease Disease or Syndrome 1 2 0.500 strong 1.000 1 2 2016 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.300 disputed 1.000 3 2012 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.300 None 0 1
CUI: C0266039
Disease: Taurodontism
Taurodontism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 40 10 0.100 None 1.000 1 2 2016 2016
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 1.000 1 2 2016 2016
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 35 13 0.100 None 1.000 1 2 2016 2016
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 1.000 1 2 2016 2016
CUI: C0457756
Disease: Tooth absent
Tooth absent 		phenotype Finding 5 6 0.100 None 1.000 1 2 2016 2016
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 1.000 1 2 2016 2016
CUI: C0002170
Disease: Alopecia
Alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.100 None 1.000 1 1 2017 2017
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 140 16 0.100 None 1.000 1 2 2016 2016
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 316 42 0.100 None 1.000 1 2 2016 2016
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.100 None 1.000 1 2 2016 2016
CUI: C4022010
Disease: Maternal seizures
Maternal seizures 		phenotype Finding 3 3 0.100 None 1.000 1 2 2016 2016
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 1.000 1 2 2016 2016
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		phenotype Nervous System Diseases Finding 13 7 0.100 None 1.000 1 2 2016 2016
CUI: C0234518
Disease: Slurred speech
Slurred speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 39 10 0.100 None 1.000 1 2 2016 2016
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		phenotype Finding 71 10 0.100 None 1.000 1 2 2016 2016
CUI: C4021229
Disease: Low insertion of columella
Low insertion of columella 		phenotype Finding 1 0.100 None 0
CUI: C1849025
Disease: Oval face
Oval face 		phenotype Finding 14 4 0.100 None 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		phenotype Finding 95 15 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 49 0.100 None 0
CUI: C0266037
Disease: Peg-shaped teeth
Peg-shaped teeth 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 17 2 0.100 None 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 218 48 0.100 None 0