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.
CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE
disease Disease or Syndrome 2 4 0.710 None 1.000 2 4 2011 2012
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 2 1 2018 2018
CUI: C0576226
Disease: Short foot
Short foot
phenotype Finding 116 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose
phenotype Finding 265 23 0.100 None 0
CUI: C1853241
Disease: Flat face
Flat face
phenotype Finding 83 7 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 429 29 0.100 None 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity
disease Musculoskeletal Diseases Anatomical Abnormality 117 5 0.100 None 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype Finding 129 21 0.100 None 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal
phenotype Finding 66 7 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C0239676
Disease: High forehead
High forehead
phenotype Finding 211 17 0.100 None 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease Eye Diseases Disease or Syndrome 225 12 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 0
CUI: C0026034
Disease: Microstomia
Microstomia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 172 9 0.100 None 0
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 20 3 0.100 None 0
CUI: C1836195
Disease: Short toe
Short toe
phenotype Finding 56 3 0.100 None 0
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2005 2012
CUI: C1844887
Disease: Catel Manzke syndrome
Catel Manzke syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 3 6 0.010 None 1.000 1 2012 2012
CUI: C1842981
Disease: NEUROTICISM
NEUROTICISM
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 141 54 0.010 None 1.000 1 2015 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2014 2014