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: C0270969
Disease: Zebra body myopathy
Zebra body myopathy
4 0 2 0.25 0 0
CUI: C0476405
Disease: Lung function testing abnormal
Lung function testing abnormal
6 0 2 0.20 0 0
Type 1 fibers relatively smaller than type 2 fibers
6 0 2 0.20 0 0
CUI: C1836057
Disease: Muscle fiber splitting
Muscle fiber splitting
13 0 3 0.19 0 0
CUI: C1850808
Disease: Miyoshi myopathy
Miyoshi myopathy
7 0 2 0.18 0 0
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1
7 0 2 0.18 0 0
CUI: C0555197
Disease: Florid cemento-osseous dysplasia
Florid cemento-osseous dysplasia
1 0 1 0.17 0 0
CUI: C0730309
Disease: Inherited optic neuropathy
Inherited optic neuropathy
1 0 1 0.17 0 0
CUI: C1735375
Disease: Progressive optic neuropathy
Progressive optic neuropathy
1 0 1 0.17 0 0
CUI: C1852267
Disease: OPTIC ATROPHY 1 AND DEAFNESS
OPTIC ATROPHY 1 AND DEAFNESS
1 0 1 0.17 0 0
CUI: C1859524
Disease: Adductor longus contractures
Adductor longus contractures
1 0 1 0.17 0 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
1 0 1 0.17 0 0
Nemaline Myopathy 3, With Intranuclear Rods
1 0 1 0.17 0 0
Myopathy, Actin, Congenital, With Cores
1 0 1 0.17 0 0
CUI: C3495361
Disease: Gigantiform Cementoma, Familial
Gigantiform Cementoma, Familial
1 0 1 0.17 0 0
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
1 38 1 0.17 1 2.6E-02
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B
1 35 1 0.17 2 5.7E-02
CUI: C4022625
Disease: Absent muscle fiber calpain-3
Absent muscle fiber calpain-3
1 0 1 0.17 0 0
CUI: C4023066
Disease: Pectoralis amyotrophy
Pectoralis amyotrophy
1 0 1 0.17 0 0
CUI: C4023333
Disease: Abnormality of corneal thickness
Abnormality of corneal thickness
1 2 1 0.17 2 1.00
Abnormal amplitude of pattern reversal visual evoked potentials
1 0 1 0.17 0 0
CUI: C4082951
Disease: Progressive spinal muscular atrophy
Progressive spinal muscular atrophy
1 0 1 0.17 0 0
MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)
1 0 1 0.17 0 0
CUI: C4225181
Disease: MYOPATHY, SCAPULOHUMEROPERONEAL
MYOPATHY, SCAPULOHUMEROPERONEAL
1 0 1 0.17 0 0
CUI: C4225267
Disease: HEIMLER SYNDROME 2
HEIMLER SYNDROME 2
1 12 1 0.17 1 7.7E-02