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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		88 6387 21 3.2E-02 1 1.6E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 3417 293 4.1E-02 1 2.9E-04
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		74 2117 19 3.0E-02 1 4.6E-04
CUI: C0004096
Disease: Asthma
Asthma 		2096 1536 99 3.8E-02 1 6.3E-04
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		130 1012 16 2.3E-02 4 3.8E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 140 0.16 1 1.5E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 256 0.20 5 8.0E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 302 0.12 6 1.0E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 381 0.19 23 3.9E-02
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		59 442 17 2.7E-02 4 8.1E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 54 7.3E-02 9 2.0E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 109 6.9E-02 1 2.2E-03
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		234 368 27 3.4E-02 1 2.4E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 173 0.15 3 7.8E-03
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		1071 331 84 5.3E-02 1 2.6E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 362 0.27 7 2.1E-02
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		613 283 67 5.9E-02 2 6.0E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 50 5.6E-02 1 3.3E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 57 8.3E-02 17 6.0E-02
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		649 224 30 2.5E-02 1 3.6E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 124 0.12 5 2.1E-02
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		95 187 30 4.6E-02 1 4.2E-03
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		446 176 12 1.2E-02 1 4.4E-03
CUI: C0027092
Disease: Myopia
Myopia 		490 167 107 0.11 4 1.9E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 220 0.17 7 3.3E-02