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: C4540324
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 49
MENTAL RETARDATION, AUTOSOMAL DOMINANT 49 		disease Mental or Behavioral Dysfunction 1 11 0.600 strong 1.000 2 11 2017 2017
CUI: C0544618
Disease: Orthostatic hypertension
Orthostatic hypertension 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 2018 2018
CUI: C4020740
Disease: Clinodactyly of the 4th toe
Clinodactyly of the 4th toe 		phenotype Finding 5 4 0.100 None 0 1
CUI: C1856202
Disease: U-Shaped upper lip vermilion
U-Shaped upper lip vermilion 		phenotype Finding 6 2 0.100 None 0 1
CUI: C0018672
Disease: Head Banging
Head Banging 		phenotype Mental Disorders Mental or Behavioral Dysfunction 7 3 0.100 None 0 1
CUI: C4021959
Disease: Round ear
Round ear 		disease Anatomical Abnormality 10 4 0.100 None 0 1
CUI: C1865038
Disease: Broad toe
Broad toe 		phenotype Finding 11 2 0.100 None 0 1
CUI: C4023116
Disease: Hypoplastic fifth toenail
Hypoplastic fifth toenail 		disease Anatomical Abnormality 12 4 0.100 None 0 1
CUI: C4025741
Disease: Clinodactyly of the 5th toe
Clinodactyly of the 5th toe 		disease Anatomical Abnormality 13 4 0.100 None 0 1
CUI: C1858539
Disease: Shawl scrotum
Shawl scrotum 		phenotype Congenital Abnormality 19 2 0.100 None 0 1
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		phenotype Finding 22 27 0.100 None 0 1
CUI: C2939175
Disease: Meconium ileus
Meconium ileus 		disease Digestive System Diseases Disease or Syndrome 24 16 0.100 None 0 1
CUI: C1856963
Disease: Fragile nails
Fragile nails 		phenotype Pathological Conditions, Signs and Symptoms Finding 27 1 0.100 None 0 1
CUI: C2675021
Disease: Narrow palpebral fissure
Narrow palpebral fissure 		phenotype Finding 34 3 0.100 None 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		phenotype Pathologic Function 41 56 0.100 None 0 1
CUI: C1867131
Disease: Broad hallux
Broad hallux 		phenotype Finding 48 14 0.100 None 0 1
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 52 7 0.100 None 0 1
CUI: C0232462
Disease: Decrease in appetite
Decrease in appetite 		phenotype Digestive System Diseases; Nervous System Diseases; Mental Disorders Sign or Symptom 62 7 0.100 None 0 1
CUI: C1840069
Disease: Sandal gap
Sandal gap 		phenotype Finding 62 6 0.100 None 0
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		phenotype Finding 67 11 0.100 None 0 1
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		phenotype Finding 71 10 0.100 None 0 1
CUI: C0231835
Disease: Tachypnea
Tachypnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 82 5 0.100 None 0 1
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		group Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 84 25 0.010 None 1.000 1 2017 2017
CUI: C0019825
Disease: Hoarseness
Hoarseness 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 84 3 0.100 None 0 1
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		phenotype Finding 89 11 0.100 None 0 1