Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		1 38 1 1.00 5 0.11
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		1 35 1 1.00 5 0.12
CUI: C4023333
Disease: Abnormality of corneal thickness
Abnormality of corneal thickness 		1 2 1 1.00 1 7.7E-02
CUI: C2674177
Disease: Areflexia of upper limbs
Areflexia of upper limbs 		2 2 1 0.50 1 7.7E-02
CUI: C4023541
Disease: Hypocalcification of dental enamel
Hypocalcification of dental enamel 		2 1 1 0.50 1 8.3E-02
CUI: C4476788
Disease: Decreased CSF 5-hydroxyindolacetic acid
Decreased CSF 5-hydroxyindolacetic acid 		2 2 1 0.50 1 7.7E-02
CUI: C0231255
Disease: Decreased body mass index
Decreased body mass index 		3 3 1 0.33 1 7.1E-02
CUI: C1849094
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3 		3 0 1 0.33 0 0
CUI: C1849095
Disease: Cochlear degeneration
Cochlear degeneration 		3 0 1 0.33 0 0
CUI: C1856186
Disease: Deafness enamel hypoplasia nail defects
Deafness enamel hypoplasia nail defects 		3 0 1 0.33 0 0
CUI: C1868549
Disease: Marked delay in bone age
Marked delay in bone age 		3 2 1 0.33 1 7.7E-02
CUI: C0410266
Disease: Contracture of hamstring(s)
Contracture of hamstring(s) 		6 2 1 0.17 1 7.7E-02
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		6 0 1 0.17 0 0
CUI: C4021535
Disease: Infantile sensorineural hearing impairment
Infantile sensorineural hearing impairment 		7 4 1 0.14 1 6.7E-02
CUI: C4020960
Disease: Abnormality of nail color
Abnormality of nail color 		8 0 1 0.12 0 0
CUI: C0240182
Disease: Leukonychia
Leukonychia 		9 0 1 0.11 0 0
CUI: C1303003
Disease: Epicanthus inversus
Epicanthus inversus 		9 0 1 0.11 0 0
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		9 4 1 0.11 1 6.7E-02
CUI: C1867114
Disease: Craniofacial disproportion
Craniofacial disproportion 		9 5 1 0.11 1 6.2E-02
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		10 0 1 1.0E-01 0 0
CUI: C4023338
Disease: Profound sensorineural hearing impairment
Profound sensorineural hearing impairment 		10 2 1 1.0E-01 1 7.7E-02
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		11 0 1 9.1E-02 0 0
CUI: C0263491
Disease: Pili Torti
Pili Torti 		12 0 1 8.3E-02 0 0
CUI: C4281771
Disease: Thin eyebrow
Thin eyebrow 		12 0 1 8.3E-02 0 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		13 8 1 7.7E-02 1 5.3E-02