rs1010184002, PEX6

N. diseases: 60
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PEROXISOME BIOGENESIS DISORDER 4B
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
0.700 GeneticVariation CLINVAR Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice. 26275793 2015
Congenital small ears
CUI: C0152423
Disease: Congenital small ears
0.700 GeneticVariation CLINVAR
Seizures, Focal
CUI: C0751495
Disease: Seizures, Focal
0.700 GeneticVariation CLINVAR
Oval face
CUI: C1849025
Disease: Oval face
0.700 GeneticVariation CLINVAR
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
0.700 GeneticVariation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 GeneticVariation CLINVAR
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 GeneticVariation CLINVAR
Proportionate short stature
CUI: C0878660
Disease: Proportionate short stature
0.700 GeneticVariation CLINVAR
Coxa valga
CUI: C0239137
Disease: Coxa valga
0.700 GeneticVariation CLINVAR
Weight less than 3rd percentile
CUI: C1844806
Disease: Weight less than 3rd percentile
0.700 GeneticVariation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 GeneticVariation CLINVAR
Decreased CSF 5-hydroxyindolacetic acid
CUI: C4476788
Disease: Decreased CSF 5-hydroxyindolacetic acid
0.700 GeneticVariation CLINVAR
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
0.700 GeneticVariation CLINVAR
Abnormality of the eye
CUI: C4316870
Disease: Abnormality of the eye
0.700 GeneticVariation CLINVAR
Slender build
CUI: C1850573
Disease: Slender build
0.700 GeneticVariation CLINVAR
Short palm
CUI: C1843108
Disease: Short palm
0.700 GeneticVariation CLINVAR
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
0.700 GeneticVariation CLINVAR
Facial asymmetry
CUI: C1306710
Disease: Facial asymmetry
0.700 GeneticVariation CLINVAR
Bilateral microphthalmos
CUI: C1843496
Disease: Bilateral microphthalmos
0.700 GeneticVariation CLINVAR
Dwarfism
CUI: C0013336
Disease: Dwarfism
0.700 GeneticVariation CLINVAR
Elevated hepatic transaminase
CUI: C1848701
Disease: Elevated hepatic transaminase
0.700 GeneticVariation CLINVAR
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 GeneticVariation CLINVAR
Leukoaraiosis
CUI: C0948163
Disease: Leukoaraiosis
0.700 GeneticVariation CLINVAR
Areflexia of lower limbs
CUI: C1856694
Disease: Areflexia of lower limbs
0.700 GeneticVariation CLINVAR
Secondary microcephaly
CUI: C0431352
Disease: Secondary microcephaly
0.700 GeneticVariation CLINVAR