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: C4316903
Disease: Absence Seizures
Absence Seizures 		96 5 71 0.35 2 8.3E-02
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		104 8 61 0.28 1 3.6E-02
CUI: C4021608
Disease: Shortening of all distal phalanges of the fingers
Shortening of all distal phalanges of the fingers 		40 0 39 0.22 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		228 0 70 0.21 0 0
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		74 24 43 0.21 2 4.7E-02
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		73 10 41 0.20 1 3.3E-02
CUI: C0027066
Disease: Myoclonus
Myoclonus 		228 13 66 0.19 2 6.2E-02
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		44 5 36 0.19 2 8.3E-02
CUI: C0013132
Disease: Drooling
Drooling 		94 14 43 0.19 3 9.4E-02
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 24 46 0.18 3 7.1E-02
CUI: C4021620
Disease: Clinodactyly of the 2nd toe
Clinodactyly of the 2nd toe 		32 0 32 0.18 0 0
CUI: C4024664
Disease: Moderate sensorineural hearing impairment
Moderate sensorineural hearing impairment 		34 0 32 0.18 0 0
CUI: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space 		35 0 32 0.18 0 0
CUI: C4021538
Disease: Mild neurosensory hearing impairment
Mild neurosensory hearing impairment 		35 0 32 0.18 0 0
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		140 0 47 0.17 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		111 10 42 0.17 1 3.3E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		223 93 58 0.17 1 8.8E-03
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 36 0.16 0 0
CUI: C1858036
Disease: Periorbital fullness
Periorbital fullness 		57 0 32 0.16 0 0
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		59 0 32 0.16 0 0
CUI: C1848207
Disease: Poor speech
Poor speech 		208 0 52 0.16 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		324 78 67 0.15 3 3.1E-02
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 3 27 0.15 1 4.3E-02
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 51 0.15 0 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 0 39 0.15 0 0