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: C1864580
Disease: Type 2 muscle fiber atrophy
Type 2 muscle fiber atrophy
14 0 3 8.6E-02 0 0
CUI: C0238157
Disease: Benign hematuria
Benign hematuria
2 0 2 8.3E-02 0 0
CUI: C2931253
Disease: Alport syndrome, dominant type
Alport syndrome, dominant type
2 0 2 8.3E-02 0 0
CUI: C3552824
Disease: Enhancement of the C-reflex
Enhancement of the C-reflex
2 0 2 8.3E-02 0 0
CUI: C3552825
Disease: Jerk-locked premyoclonus spikes
Jerk-locked premyoclonus spikes
2 0 2 8.3E-02 0 0
Type 1 and type 2 muscle fiber minicore regions
2 0 2 8.3E-02 0 0
CUI: C0344262
Disease: Anterior lenticonus
Anterior lenticonus
3 0 2 8.0E-02 0 0
Thin glomerular basement membrane disease
3 0 2 8.0E-02 0 0
CUI: C2931254
Disease: Alport syndrome, recessive type
Alport syndrome, recessive type
3 0 2 8.0E-02 0 0
CUI: C3276821
Disease: Thin glomerular basement membrane
Thin glomerular basement membrane
3 0 2 8.0E-02 0 0
Diffuse glomerular basement membrane lamellation
3 0 2 8.0E-02 0 0
CUI: C3552821
Disease: EEG with photoparoxysmal response
EEG with photoparoxysmal response
3 0 2 8.0E-02 0 0
Punctate opacification of the cornea
3 0 2 8.0E-02 0 0
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
3 0 2 8.0E-02 0 0
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1
4 0 2 7.7E-02 0 0
Giant somatosensory evoked potentials
4 0 2 7.7E-02 0 0
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
4 0 2 7.7E-02 0 0
CUI: C1567743
Disease: Alport Syndrome, Autosomal Dominant
Alport Syndrome, Autosomal Dominant
5 0 2 7.4E-02 0 0
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
5 0 2 7.4E-02 0 0
Type 1 fibers relatively smaller than type 2 fibers
6 0 2 7.1E-02 0 0
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal
68 0 6 7.0E-02 0 0
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit
22 0 3 7.0E-02 0 0
Thickening of glomerular basement membrane
7 0 2 6.9E-02 0 0
EEG with irregular generalized spike and wave complexes
7 0 2 6.9E-02 0 0
CUI: C0234182
Disease: Gowers sign
Gowers sign
54 0 5 6.8E-02 0 0