Source: INFERRED ×
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: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		178 21 71 0.35 2 8.3E-02
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		44 0 35 0.33 0 0
CUI: C4021620
Disease: Clinodactyly of the 2nd toe
Clinodactyly of the 2nd toe 		32 0 32 0.33 0 0
CUI: C4024664
Disease: Moderate sensorineural hearing impairment
Moderate sensorineural hearing impairment 		34 0 32 0.33 0 0
CUI: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space 		35 0 32 0.32 0 0
CUI: C4021538
Disease: Mild neurosensory hearing impairment
Mild neurosensory hearing impairment 		35 0 32 0.32 0 0
CUI: C4021608
Disease: Shortening of all distal phalanges of the fingers
Shortening of all distal phalanges of the fingers 		40 0 33 0.32 0 0
CUI: C1858036
Disease: Periorbital fullness
Periorbital fullness 		57 0 34 0.29 0 0
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		73 10 37 0.28 1 7.1E-02
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		74 24 37 0.28 1 3.6E-02
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		59 0 32 0.26 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		228 0 63 0.24 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 33 0.22 0 0
CUI: C0013132
Disease: Drooling
Drooling 		94 0 34 0.22 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		111 0 37 0.22 0 0
CUI: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes 		23 0 21 0.21 0 0
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		140 0 40 0.20 0 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 0 36 0.19 0 0
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		107 0 32 0.19 0 0
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		121 0 33 0.18 0 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 0 19 0.18 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		223 0 48 0.18 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 36 0.18 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		104 0 29 0.17 0 0
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		24 0 17 0.17 0 0