Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Deafness, congenital onychodystrophy, recessive form
1 0 1 1.00 0 0
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
1 0 1 1.00 0 0
CUI: C2829265
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86
DEAFNESS, AUTOSOMAL RECESSIVE 86
1 5 1 1.00 1 9.1E-02
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
1 6 1 1.00 1 8.3E-02
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65
1 10 1 1.00 2 0.13
CUI: C4023369
Disease: Abnormality of placental membranes
Abnormality of placental membranes
1 0 1 1.00 0 0
CUI: C4023413
Disease: Anterior plagiocephaly
Anterior plagiocephaly
1 0 1 1.00 0 0
Aplasia/Hypoplasia of the phalanges of the 2nd toe
1 0 1 1.00 0 0
Prolonged somatosensory evoked potentials
1 0 1 1.00 0 0
CUI: C4531131
Disease: Small cerebellar cortex
Small cerebellar cortex
1 0 1 1.00 0 0
CUI: C4531228
Disease: Malalignment of the great toenail
Malalignment of the great toenail
1 0 1 1.00 0 0
Progressive myoclonic epilepsy with dystonia
1 0 1 1.00 0 0
CUI: C4476619
Disease: Poor visual behavior for age
Poor visual behavior for age
2 0 1 0.50 0 0
CUI: C0016399
Disease: Epilepsy, Partial, Motor
Epilepsy, Partial, Motor
3 0 1 0.33 0 0
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
3 0 1 0.33 0 0
Increased urine alpha-ketoglutarate concentration
3 0 1 0.33 0 0
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull
4 11 1 0.25 1 5.9E-02
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome
4 11 1 0.25 2 0.12
CUI: C4024906
Disease: Hemifacial seizures
Hemifacial seizures
4 0 1 0.25 0 0
CUI: C0278110
Disease: Hemiplegia, Crossed
Hemiplegia, Crossed
5 0 1 0.20 0 0
CUI: C0426501
Disease: Short frenulum of tongue
Short frenulum of tongue
6 0 1 0.17 0 0
CUI: C4551566
Disease: Equinovarus deformity of foot
Equinovarus deformity of foot
6 0 1 0.17 0 0
CUI: C0264009
Disease: Osteodystrophy
Osteodystrophy
7 0 1 0.14 0 0
EEG with irregular generalized spike and wave complexes
7 0 1 0.14 0 0
CUI: C0338488
Disease: Alternating hemiplegia of childhood
Alternating hemiplegia of childhood
8 0 1 0.12 0 0