PEX10, peroxisomal biogenesis factor 10, 5192

N. diseases: 141; N. variants: 27
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: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		phenotype Finding 216 16 0.100 None 0
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		phenotype Finding 58 4 0.100 None 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 180 101 0.100 None 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype Finding 130 50 0.100 None 0
CUI: C1837402
Disease: Flat occiput
Flat occiput 		phenotype Finding 45 6 0.100 None 0
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit 		phenotype Finding 25 1 0.100 None 0
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive 		phenotype Finding 38 0.100 None 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 75 9 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1843885
Disease: Progressive gait ataxia
Progressive gait ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 21 3 0.100 None 0
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 20 3 0.100 None 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		disease Anatomical Abnormality 95 8 0.100 None 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		phenotype Finding 59 15 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0
CUI: C1853241
Disease: Flat face
Flat face 		phenotype Finding 83 7 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 68 13 0.100 None 0
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		disease Nervous System Diseases Congenital Abnormality 17 2 0.100 None 0
CUI: C0476217
Disease: Head movements abnormal
Head movements abnormal 		phenotype Nervous System Diseases Finding 8 2 0.100 None 0
CUI: C0546967
Disease: Posterior embryotoxon
Posterior embryotoxon 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 44 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: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0