rs61753219, PEX6

N. diseases: 64
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
HEIMLER SYNDROME 2
CUI: C4225267
Disease: HEIMLER SYNDROME 2
12 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.800 1.000 3 2009 2016
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 1.000 8 1996 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 1.000 8 1996 2016
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
38 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 1.000 3 2004 2013
PEROXISOME BIOGENESIS DISORDER 4B
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
35 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 1.000 3 2004 2013
Abnormal cornea morphology
CUI: C1855670
Disease: Abnormal cornea morphology
4 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Abnormal retinal morphology
CUI: C0035300
Disease: Abnormal retinal morphology
8 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Abnormality of corneal thickness
CUI: C4023333
Disease: Abnormality of corneal thickness
2 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Abnormality of the cerebellum
CUI: C1866129
Disease: Abnormality of the cerebellum
11 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Abnormality of the eye
CUI: C4316870
Disease: Abnormality of the eye
29 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Abnormality of the optic disc
CUI: C3808249
Disease: Abnormality of the optic disc
4 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Abnormality of the optic nerve
CUI: C0029131
Disease: Abnormality of the optic nerve
11 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Areflexia of lower limbs
CUI: C1856694
Disease: Areflexia of lower limbs
4 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Areflexia of upper limbs
CUI: C2674177
Disease: Areflexia of upper limbs
2 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Bilateral microphthalmos
CUI: C1843496
Disease: Bilateral microphthalmos
11 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Blindness
CUI: C0456909
Disease: Blindness
34 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Cerebral dysmyelination
CUI: C1854885
Disease: Cerebral dysmyelination
6 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Congenital small ears
CUI: C0152423
Disease: Congenital small ears
13 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Contracture of hamstring(s)
CUI: C0410266
Disease: Contracture of hamstring(s)
2 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Coxa valga
CUI: C0239137
Disease: Coxa valga
5 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Craniofacial disproportion
CUI: C1867114
Disease: Craniofacial disproportion
5 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Decreased body mass index
CUI: C0231255
Disease: Decreased body mass index
3 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Decreased CSF 5-hydroxyindolacetic acid
CUI: C4476788
Disease: Decreased CSF 5-hydroxyindolacetic acid
2 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0