MOCS1, molybdenum cofactor synthesis 1, 4337

N. diseases: 44; N. variants: 14
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: C1854988
Disease: Molybdenum Cofactor Deficiency, Complementation Group A
Molybdenum Cofactor Deficiency, Complementation Group A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 13 0.700 strong 1.000 4 12 1998 2005
CUI: C0268119
Disease: Combined molybdoflavoprotein enzyme deficiency
Combined molybdoflavoprotein enzyme deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 0.630 strong 1.000 3 1998 2018
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C1848957
Disease: Increased urinary sulfite
Increased urinary sulfite 		phenotype Finding 2 0.100 None 0
CUI: C1848958
Disease: Decreased urinary sulfate
Decreased urinary sulfate 		phenotype Finding 2 0.100 None 0
CUI: C1848431
Disease: Xanthine nephrolithiasis
Xanthine nephrolithiasis 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 3 0.100 None 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		phenotype Finding 95 15 0.100 None 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype Finding 282 16 0.100 None 0
CUI: C1866231
Disease: Full cheeks
Full cheeks 		phenotype Finding 103 4 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype Finding 305 22 0.100 None 0
CUI: C3148695
Disease: Increased urinary thiosulfate
Increased urinary thiosulfate 		phenotype Finding 1 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C4025600
Disease: Reduced xanthine dehydrogenase activity
Reduced xanthine dehydrogenase activity 		phenotype Finding 2 0.100 None 0
CUI: C4025591
Disease: Absent urinary urothione
Absent urinary urothione 		phenotype Finding 1 0.100 None 0
CUI: C4023118
Disease: Decreased urinary urate
Decreased urinary urate 		phenotype Finding 1 0.100 None 0
CUI: C3810487
Disease: Increased urinary hypoxanthine
Increased urinary hypoxanthine 		phenotype Finding 2 0.100 None 0
CUI: C3806447
Disease: Increased urinary taurine
Increased urinary taurine 		phenotype Finding 3 0.100 None 0
CUI: C3806442
Disease: Myoclonic spasms
Myoclonic spasms 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 10 2 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 427 32 0.100 None 0
CUI: C1836047
Disease: Long face
Long face 		phenotype Finding 182 12 0.100 None 0
CUI: C1832338
Disease: Axonal loss
Axonal loss 		phenotype Finding 16 0.100 None 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 0.100 None 0