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: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
disease Disease or Syndrome 25 46 0.410 1.000 2 1 2014 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 strong 1 2014 2014
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 62 109 0.350 1.000 5 2014 2016
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 180 1 0.310 strong 1.000 1 2014 2014
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
disease Disease or Syndrome 2 0.300 0
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 146 2 0.300 strong 0
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21
disease Disease or Syndrome 2 22 0.100 6 22 2014 2017
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
phenotype Finding 148 2 0.100 0
CUI: C1853235
Disease: Sclerocornea
Sclerocornea
disease Eye Diseases Disease or Syndrome 30 1 0.100 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 80 1 0.100 0
CUI: C3552713
Disease: Talipes foot deformities
Talipes foot deformities
phenotype Finding 38 0.100 0
CUI: C3550658
Disease: Maternal oligohydramnios
Maternal oligohydramnios
phenotype Finding 57 0.100 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing
phenotype Finding 49 0.100 0
CUI: C1857130
Disease: Hypoplastic mandible condyle
Hypoplastic mandible condyle
phenotype Anatomical Abnormality 394 0.100 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia
disease Behavior and Behavior Mechanisms; Cardiovascular Diseases; Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 55 4 0.100 0
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease Congenital Abnormality 273 7 0.100 0
CUI: C2748653
Disease: Chubby cheeks
Chubby cheeks
phenotype Finding 82 0.100 0
CUI: C1857353
Disease: Posterior fossa cyst
Posterior fossa cyst
phenotype Finding 10 0.100 0
CUI: C1866231
Disease: Full cheeks
Full cheeks
phenotype Finding 82 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Finding 632 17 0.100 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead
phenotype Finding 83 0.100 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype Finding 232 1 0.100 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea
phenotype Finding 22 0.100 0
CUI: C4020876
Disease: Dull intelligence
Dull intelligence
phenotype Finding 946 0.100 0