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: C0004096
Disease: Asthma
Asthma 		2096 1536 102 4.4E-02 1 6.4E-04
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		1428 852 91 5.5E-02 1 1.1E-03
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		852 704 62 5.6E-02 1 1.4E-03
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		685 663 40 4.1E-02 1 1.5E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 74 6.1E-02 1 1.7E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 138 5.9E-02 3 5.2E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 107 5.3E-02 2 3.5E-03
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		1114 485 101 7.6E-02 2 4.0E-03
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		234 368 15 2.8E-02 1 2.6E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 348 103 5.6E-02 2 5.4E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 10 2.1E-02 4 1.5E-02
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		27 210 7 2.1E-02 1 4.3E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 23 2.7E-02 1 4.7E-03
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		1182 189 64 4.5E-02 1 4.7E-03
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 187 5 1.2E-02 1 4.8E-03
CUI: C0027092
Disease: Myopia
Myopia 		490 167 27 3.5E-02 1 5.3E-03
CUI: C0026848
Disease: Myopathy
Myopathy 		634 166 95 0.11 1 5.3E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 89 7.5E-02 3 1.6E-02
CUI: C0023530
Disease: Leukopenia
Leukopenia 		440 153 36 5.0E-02 1 5.7E-03
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		319 144 44 7.4E-02 3 1.8E-02
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		48 144 7 1.9E-02 1 6.0E-03
CUI: C0086543
Disease: Cataract
Cataract 		878 124 56 4.9E-02 1 6.8E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 20 4.3E-02 2 1.4E-02
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		592 110 39 4.5E-02 1 7.6E-03
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		480 105 55 7.4E-02 5 4.1E-02