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: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 3 0.200 None 1.000 1 2018 2018
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 56 3 0.200 None 1.000 1 2018 2018
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 185 8 0.200 None 1.000 1 2018 2018
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 104 12 0.200 None 1.000 1 2018 2018
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 20 3 0.200 None 1.000 1 2018 2018
CUI: C0347915
Disease: Congenital malformation syndromes associated with short stature
Congenital malformation syndromes associated with short stature 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 9 0.200 None 1.000 1 2018 2018
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 42 24 0.200 None 1.000 1 2018 2018
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 85 11 0.200 None 1.000 1 2018 2018
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 12 0.200 None 1.000 1 2018 2018
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease Anatomical Abnormality 190 12 0.100 None 1.000 1 1 2018 2018
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease Mental Disorders Disease or Syndrome 118 59 0.100 None 1.000 1 1 2018 2018
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		phenotype Finding 73 10 0.100 None 1.000 1 1 2018 2018
CUI: C1851833
Disease: Premature birth following premature rupture of fetal membranes
Premature birth following premature rupture of fetal membranes 		phenotype Female Urogenital Diseases and Pregnancy Complications Finding 5 4 0.100 None 1.000 1 1 2018 2018
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 1.000 1 1 2018 2018
CUI: C1864795
Disease: Superior pectus carinatum
Superior pectus carinatum 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Finding 5 1 0.100 None 1.000 1 1 2018 2018
CUI: C1845019
Disease: Left ventricular septal hypertrophy
Left ventricular septal hypertrophy 		phenotype Finding 1 1 0.100 None 1.000 1 1 2018 2018
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype Finding 103 31 0.100 None 1.000 1 1 2018 2018
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		disease Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality 128 16 0.100 None 1.000 1 1 2018 2018
CUI: C1848395
Disease: Large for gestational age
Large for gestational age 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 43 10 0.100 None 1.000 1 1 2018 2018
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 1.000 1 3 2018 2018
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 59 14 0.100 None 1.000 1 1 2018 2018
CUI: C1859523
Disease: Contractures of the joints of the lower limbs
Contractures of the joints of the lower limbs 		phenotype Finding 12 3 0.100 None 1.000 1 1 2018 2018
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease Congenital Abnormality 176 23 0.100 None 1.000 1 1 2018 2018
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 1.000 1 1 2018 2018
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 1 2018 2018