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: C3150736
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj 		disease Disease or Syndrome 1 6 0.700 strong 1.000 6 6 2002 2016
CUI: C1300285
Disease: SAUL-WILSON SYNDROME
SAUL-WILSON SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 1 0.710 strong 1.000 1 1 2018 2018
CUI: C4021156
Disease: Enlarged semicircular canal
Enlarged semicircular canal 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4022933
Disease: Abnormal protein O-linked glycosylation
Abnormal protein O-linked glycosylation 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4023387
Disease: Dilated vestibule of the inner ear
Dilated vestibule of the inner ear 		disease Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C4025311
Disease: Irregularity of vertebral bodies
Irregularity of vertebral bodies 		phenotype Finding 2 0.100 None 0
CUI: C0426430
Disease: Drooping nasal tip
Drooping nasal tip 		phenotype Finding 3 1 0.100 None 0
CUI: C3888417
Disease: CATARACT 5, MULTIPLE TYPES
CATARACT 5, MULTIPLE TYPES 		disease Disease or Syndrome 3 9 0.100 None 0 1
CUI: C4025017
Disease: Fatal liver failure in infancy
Fatal liver failure in infancy 		phenotype Digestive System Diseases Finding 3 0.100 None 0
CUI: C1836264
Disease: Congenital bilateral ptosis
Congenital bilateral ptosis 		disease Congenital Abnormality 4 1 0.100 None 0 1
CUI: C1842836
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 2 0.010 None 1.000 1 2009 2009
CUI: C1844925
Disease: Cervical spinal canal stenosis
Cervical spinal canal stenosis 		phenotype Finding 6 2 0.100 None 0 1
CUI: C1856542
Disease: Prominent scalp veins
Prominent scalp veins 		phenotype Finding 6 1 0.100 None 0 1
CUI: C1862152
Disease: Aplasia/Hypoplasia of the middle phalanges of the hand
Aplasia/Hypoplasia of the middle phalanges of the hand 		phenotype Finding 7 1 0.100 None 0 1
CUI: C2676973
Disease: Dilatated internal auditory canal
Dilatated internal auditory canal 		phenotype Finding 7 2 0.100 None 0 1
CUI: C4021094
Disease: Type II transferrin isoform profile
Type II transferrin isoform profile 		phenotype Finding 7 0.100 None 0
CUI: C1845667
Disease: RETINITIS PIGMENTOSA 3
RETINITIS PIGMENTOSA 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 31 0.010 None 1.000 1 2000 2000
CUI: C1837785
Disease: Prominent superficial veins
Prominent superficial veins 		phenotype Finding 8 3 0.100 None 0
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: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery 		phenotype Pathologic Function 10 10 0.100 None 0 1
CUI: C4021584
Disease: Frontotemporal cerebral atrophy
Frontotemporal cerebral atrophy 		disease Disease or Syndrome 14 1 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: C1854495
Disease: Recurrent infection of the gastrointestinal tract
Recurrent infection of the gastrointestinal tract 		phenotype Finding 16 0.100 None 0
CUI: C4025858
Disease: Abnormal cochlea morphology
Abnormal cochlea morphology 		disease Anatomical Abnormality 16 1 0.100 None 0 1
CUI: C4073184
Disease: Thick hair
Thick hair 		phenotype Finding 16 3 0.100 None 0