Source: ALL
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: C0795927
Disease: Deafness, congenital onychodystrophy, recessive form
Deafness, congenital onychodystrophy, recessive form 		1 0 1 0.25 0 0
CUI: C1842531
Disease: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp 		1 0 1 0.25 0 0
CUI: C2829265
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86
DEAFNESS, AUTOSOMAL RECESSIVE 86 		1 5 1 0.25 1 6.7E-02
CUI: C3151446
Disease: Nestor Guillermo progeria syndrome
Nestor Guillermo progeria syndrome 		1 0 1 0.25 0 0
CUI: C3809173
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		1 7 1 0.25 2 0.12
CUI: C3809181
Disease: Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) 		1 6 1 0.25 2 0.13
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		1 10 1 0.25 3 0.17
CUI: C4023369
Disease: Abnormality of placental membranes
Abnormality of placental membranes 		1 0 1 0.25 0 0
CUI: C4023413
Disease: Anterior plagiocephaly
Anterior plagiocephaly 		1 0 1 0.25 0 0
CUI: C4023890
Disease: Aplasia/Hypoplasia of the phalanges of the 2nd toe
Aplasia/Hypoplasia of the phalanges of the 2nd toe 		1 0 1 0.25 0 0
CUI: C4024939
Disease: Prolonged somatosensory evoked potentials
Prolonged somatosensory evoked potentials 		1 0 1 0.25 0 0
CUI: C4025666
Disease: Abnormality of the forearm
Abnormality of the forearm 		1 0 1 0.25 0 0
CUI: C4049867
Disease: Giant Cell Lesion of Small Bones
Giant Cell Lesion of Small Bones 		1 0 1 0.25 0 0
CUI: C4531131
Disease: Small cerebellar cortex
Small cerebellar cortex 		1 0 1 0.25 0 0
CUI: C4531228
Disease: Malalignment of the great toenail
Malalignment of the great toenail 		1 0 1 0.25 0 0
CUI: C4706413
Disease: Progressive myoclonic epilepsy with dystonia
Progressive myoclonic epilepsy with dystonia 		1 0 1 0.25 0 0
CUI: C1275236
Disease: Fibroma of tendon sheath
Fibroma of tendon sheath 		2 0 1 0.20 0 0
CUI: C2960488
Disease: Cranial fasciitis
Cranial fasciitis 		2 0 1 0.20 0 0
CUI: C4476619
Disease: Poor visual behavior for age
Poor visual behavior for age 		2 0 1 0.20 0 0
CUI: C0016399
Disease: Epilepsy, Partial, Motor
Epilepsy, Partial, Motor 		3 0 1 0.17 0 0
CUI: C1837757
Disease: Progressive clavicular acroosteolysis
Progressive clavicular acroosteolysis 		3 0 1 0.17 0 0
CUI: C2676254
Disease: Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 		3 0 1 0.17 0 0
CUI: C4022915
Disease: Increased urine alpha-ketoglutarate concentration
Increased urine alpha-ketoglutarate concentration 		3 0 1 0.17 0 0
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		4 11 1 0.14 8 0.57
CUI: C0796184
Disease: Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 		4 0 1 0.14 0 0