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: C0796274
Disease: Brown-Vialetto-Van Laere Syndrome 1
Brown-Vialetto-Van Laere Syndrome 1
4 0 2 0.12 0 0
CUI: C4551777
Disease: Brown-Vialetto-Van Laere syndrome
Brown-Vialetto-Van Laere syndrome
4 0 2 0.12 0 0
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness
14 0 2 7.7E-02 0 0
CUI: C0015708
Disease: Fazio-Londe Syndrome
Fazio-Londe Syndrome
1 0 1 7.1E-02 0 0
CUI: C0220692
Disease: Maxillonasal dysplasia, Binder type
Maxillonasal dysplasia, Binder type
1 0 1 7.1E-02 0 0
CUI: C0265404
Disease: 4q partial monosomy syndrome
4q partial monosomy syndrome
1 0 1 7.1E-02 0 0
CUI: C0266384
Disease: Congenital absence of uterus
Congenital absence of uterus
1 0 1 7.1E-02 0 0
CUI: C0266692
Disease: Craniopagus
Craniopagus
1 0 1 7.1E-02 0 0
CUI: C0393540
Disease: Childhood Progressive Bulbar Palsy
Childhood Progressive Bulbar Palsy
1 0 1 7.1E-02 0 0
CUI: C0795829
Disease: Chromosome 8, trisomy 8q
Chromosome 8, trisomy 8q
1 0 1 7.1E-02 0 0
Deafness, congenital onychodystrophy, recessive form
1 0 1 7.1E-02 0 0
CUI: C1290783
Disease: Peripheral ossifying fibroma
Peripheral ossifying fibroma
1 0 1 7.1E-02 0 0
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
1 0 1 7.1E-02 0 0
CUI: C1846784
Disease: Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 30
1 0 1 7.1E-02 0 0
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
1 12 1 7.1E-02 1 7.7E-02
Distal muscle atrophy due to neurologic disease
1 0 1 7.1E-02 0 0
Normal serum phytanic and pristanic acid
1 0 1 7.1E-02 0 0
CUI: C2829265
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86
DEAFNESS, AUTOSOMAL RECESSIVE 86
1 0 1 7.1E-02 0 0
CUI: C3150704
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 91
DEAFNESS, AUTOSOMAL RECESSIVE 91
1 0 1 7.1E-02 0 0
HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA
1 0 1 7.1E-02 0 0
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
1 0 1 7.1E-02 0 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
1 0 1 7.1E-02 0 0
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
1 0 1 7.1E-02 0 0
CUI: C3888123
Disease: DEAFNESS, AUTOSOMAL DOMINANT 50
DEAFNESS, AUTOSOMAL DOMINANT 50
1 0 1 7.1E-02 0 0
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65
1 0 1 7.1E-02 0 0