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: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		389 0 54 9.0E-02 0 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		312 0 47 8.9E-02 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 29 8.9E-02 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 90 8.9E-02 0 0
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		122 0 31 8.8E-02 0 0
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		136 0 32 8.7E-02 0 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		112 0 30 8.7E-02 0 0
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		40 0 24 8.6E-02 0 0
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		235 0 39 8.5E-02 0 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		180 0 34 8.3E-02 0 0
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		480 105 57 8.3E-02 2 1.8E-02
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 74 53 8.3E-02 1 1.2E-02
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 0 63 8.3E-02 0 0
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		26 0 22 8.3E-02 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 57 8.2E-02 0 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		198 0 35 8.2E-02 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 0 60 8.0E-02 0 0
CUI: C1844945
Disease: Episodic respiratory distress
Episodic respiratory distress 		21 0 21 8.0E-02 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 44 8.0E-02 1 1.1E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		536 0 59 8.0E-02 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 27 8.0E-02 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 178 8.0E-02 3 5.3E-03
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		51 0 23 7.9E-02 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 0 54 7.9E-02 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 0 73 7.9E-02 0 0