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: C2751855
Disease: Hypomyelination, Global Cerebral
Hypomyelination, Global Cerebral 		2 0 1 0.50 0 0
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		14 0 1 7.1E-02 0 0
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		27 0 1 3.7E-02 0 0
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		29 0 1 3.4E-02 0 0
CUI: C3542025
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE 		31 0 1 3.2E-02 0 0
CUI: C0239337
Disease: Deformity of limb
Deformity of limb 		37 0 1 2.7E-02 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 1 1.4E-02 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 0 1 1.3E-02 0 0
CUI: C0008495
Disease: Chorioamnionitis
Chorioamnionitis 		132 0 1 7.6E-03 0 0
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		164 0 1 6.1E-03 0 0
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		173 0 1 5.8E-03 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		187 0 1 5.3E-03 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 4.3E-03 0 0
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		328 0 1 3.0E-03 0 0
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration 		342 0 1 2.9E-03 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 1 2.1E-03 0 0
CUI: C0027092
Disease: Myopia
Myopia 		490 0 1 2.0E-03 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 0 1 2.0E-03 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 1 1.9E-03 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 0 1 1.7E-03 0 0
CUI: C0021704
Disease: Intelligence
Intelligence 		645 0 1 1.6E-03 0 0
CUI: C0596887
Disease: mathematical ability
mathematical ability 		854 0 1 1.2E-03 0 0
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		1071 0 1 9.3E-04 0 0
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		1075 0 1 9.3E-04 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 0 1 9.0E-04 0 0