rs61753219, PEX6

N. diseases: 64
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. 8670792 1996
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
0.700 GeneticVariation CLINVAR
Craniofacial disproportion
CUI: C1867114
Disease: Craniofacial disproportion
0.700 GeneticVariation CLINVAR
Congenital small ears
CUI: C0152423
Disease: Congenital small ears
0.700 GeneticVariation CLINVAR
Abnormality of corneal thickness
CUI: C4023333
Disease: Abnormality of corneal thickness
0.700 GeneticVariation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 GeneticVariation CLINVAR
Elevated hepatic transaminase
CUI: C1848701
Disease: Elevated hepatic transaminase
0.700 GeneticVariation CLINVAR
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
0.700 GeneticVariation CLINVAR
Bilateral microphthalmos
CUI: C1843496
Disease: Bilateral microphthalmos
0.700 GeneticVariation CLINVAR
Small hand
CUI: C0575802
Disease: Small hand
0.700 GeneticVariation CLINVAR
Facial asymmetry
CUI: C1306710
Disease: Facial asymmetry
0.700 GeneticVariation CLINVAR
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
0.700 GeneticVariation CLINVAR
Short palm
CUI: C1843108
Disease: Short palm
0.700 GeneticVariation CLINVAR
Leukoaraiosis
CUI: C0948163
Disease: Leukoaraiosis
0.700 GeneticVariation CLINVAR
Long narrow head
CUI: C0221358
Disease: Long narrow head
0.700 GeneticVariation CLINVAR
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 GeneticVariation CLINVAR
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
0.700 GeneticVariation CLINVAR
Severe failure to thrive
CUI: C1855514
Disease: Severe failure to thrive
0.700 GeneticVariation CLINVAR
Decreased CSF 5-hydroxyindolacetic acid
CUI: C4476788
Disease: Decreased CSF 5-hydroxyindolacetic acid
0.700 GeneticVariation CLINVAR
Increased susceptibility to fractures
CUI: C1390474
Disease: Increased susceptibility to fractures
0.700 GeneticVariation CLINVAR
Thoracolumbar scoliosis
CUI: C0749379
Disease: Thoracolumbar scoliosis
0.700 GeneticVariation CLINVAR
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
0.700 GeneticVariation CLINVAR
Joint hyperflexibility
CUI: C3553764
Disease: Joint hyperflexibility
0.700 GeneticVariation CLINVAR
Seizures, Focal
CUI: C0751495
Disease: Seizures, Focal
0.700 GeneticVariation CLINVAR
Areflexia of lower limbs
CUI: C1856694
Disease: Areflexia of lower limbs
0.700 GeneticVariation CLINVAR