DCPS, decapping enzyme, scavenger, 28960

N. diseases: 90; N. variants: 7
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: C4085595
Disease: AL-RAQAD SYNDROME
AL-RAQAD SYNDROME
disease Disease or Syndrome 17 8 0.710 strong 1.000 3 3 2015 2018
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 1 2019 2019
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 2 2017 2017
CUI: C1510420
Disease: Cavitation
Cavitation
disease Anatomical Abnormality 47 0.010 None 1.000 1 2018 2018
CUI: C3160821
Disease: Viral uveitis
Viral uveitis
disease Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C4524073
Disease: Low anterior resection syndrome
Low anterior resection syndrome
disease Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype Finding 271 106 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1840069
Disease: Sandal gap
Sandal gap
phenotype Finding 62 6 0.100 None 0
CUI: C1853241
Disease: Flat face
Flat face
phenotype Finding 83 7 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose
phenotype Finding 265 23 0.100 None 0
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia
phenotype Finding 41 0.100 None 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion
phenotype Finding 211 25 0.100 None 0
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges
phenotype Finding 52 9 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 0.100 None 0
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 276 69 0.100 None 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior
disease Behavior and Behavior Mechanisms Individual Behavior 135 0.100 None 0
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span
phenotype Behavior and Behavior Mechanisms Finding 77 2 0.100 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 0.100 None 0
CUI: C0003076
Disease: Aniridia
Aniridia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 83 29 0.010 None 1.000 1 2018 2018
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.010 None 1.000 1 2015 2015
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0