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: C1623038
Disease: Cirrhosis
Cirrhosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
CUI: C1849020
Disease: Short metatarsal
Short metatarsal 		phenotype Finding 34 1 0.100 None 0
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 49 19 0.100 None 0 1
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		phenotype Finding 32 1 0.100 None 0
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 0
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C1854495
Disease: Recurrent infection of the gastrointestinal tract
Recurrent infection of the gastrointestinal tract 		phenotype Finding 16 0.100 None 0
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 0
CUI: C1855650
Disease: Birth length less than 3rd percentile
Birth length less than 3rd percentile 		phenotype Finding 21 13 0.100 None 0 1
CUI: C1855843
Disease: Severe intrauterine growth retardation
Severe intrauterine growth retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 9 3 0.100 None 0 1
CUI: C1856542
Disease: Prominent scalp veins
Prominent scalp veins 		phenotype Finding 6 1 0.100 None 0 1
CUI: C1846439
Disease: Hypoplasia of the odontoid process
Hypoplasia of the odontoid process 		phenotype Musculoskeletal Diseases Finding 23 1 0.100 None 0
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 20 3 0.100 None 0
CUI: C1844925
Disease: Cervical spinal canal stenosis
Cervical spinal canal stenosis 		phenotype Finding 6 2 0.100 None 0 1
CUI: C1836264
Disease: Congenital bilateral ptosis
Congenital bilateral ptosis 		disease Congenital Abnormality 4 1 0.100 None 0 1
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		phenotype Finding 66 7 0.100 None 0
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype Finding 103 31 0.100 None 0 1
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype Finding 159 25 0.100 None 0 1
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease Mental Disorders Disease or Syndrome 118 59 0.100 None 0 2
CUI: C1837785
Disease: Prominent superficial veins
Prominent superficial veins 		phenotype Finding 8 3 0.100 None 0
CUI: C1837835
Disease: Bilateral talipes equinovarus
Bilateral talipes equinovarus 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 16 6 0.100 None 0 1
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 77 12 0.100 None 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype Finding 85 3 0.100 None 0 1
CUI: C1843108
Disease: Short palm
Short palm 		phenotype Finding 110 13 0.100 None 0