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: C1862264
Disease: Bpes With Duane Retraction Syndrome
Bpes With Duane Retraction Syndrome
1 0 1 7.1E-02 0 0
CUI: C1879643
Disease: Adult Type Granulosa Cell Tumor
Adult Type Granulosa Cell Tumor
1 0 1 7.1E-02 0 0
CUI: C1970106
Disease: Bpes, Type I, Autosomal Recessive
Bpes, Type I, Autosomal Recessive
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: C2931135
Disease: Blepharophimosis syndrome type 1
Blepharophimosis syndrome type 1
1 0 1 7.1E-02 0 0
CUI: C2931136
Disease: Blepharophimosis syndrome type 2
Blepharophimosis syndrome type 2
1 0 1 7.1E-02 0 0
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29
1 0 1 7.1E-02 0 0
CUI: C3280471
Disease: OVARIAN DYSGENESIS 3
OVARIAN DYSGENESIS 3
1 0 1 7.1E-02 0 0
Blepharophimosis, Ptosis, and Epicanthus Inversus Type II
1 0 1 7.1E-02 0 0
CUI: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3
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: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65
1 0 1 7.1E-02 0 0
CUI: C4015307
Disease: PERRAULT SYNDROME 5
PERRAULT SYNDROME 5
1 0 1 7.1E-02 0 0
CUI: C4023369
Disease: Abnormality of placental membranes
Abnormality of placental membranes
1 0 1 7.1E-02 0 0
CUI: C4023413
Disease: Anterior plagiocephaly
Anterior plagiocephaly
1 0 1 7.1E-02 0 0
Aplasia/Hypoplasia of the phalanges of the 2nd toe
1 0 1 7.1E-02 0 0
Prolonged somatosensory evoked potentials
1 0 1 7.1E-02 0 0
CUI: C4025829
Disease: Abnormality of the breast
Abnormality of the breast
1 0 1 7.1E-02 0 0
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W
1 0 1 7.1E-02 0 0
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA
1 2 1 7.1E-02 1 8.3E-02
CUI: C4479656
Disease: PERRAULT SYNDROME 6
PERRAULT SYNDROME 6
1 0 1 7.1E-02 0 0
CUI: C4531131
Disease: Small cerebellar cortex
Small cerebellar cortex
1 0 1 7.1E-02 0 0
CUI: C4531228
Disease: Malalignment of the great toenail
Malalignment of the great toenail
1 0 1 7.1E-02 0 0
Progressive myoclonic epilepsy with dystonia
1 0 1 7.1E-02 0 0