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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		560 635 31 4.2E-02 2 3.1E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 70 0.12 2 3.2E-03
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		1296 609 41 2.8E-02 1 1.6E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 125 0.12 3 5.1E-03
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		2438 563 49 1.9E-02 1 1.7E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 140 6.3E-02 4 7.1E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 161 8.6E-02 6 1.1E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 395 90 7.3E-02 2 4.9E-03
CUI: C0002170
Disease: Alopecia
Alopecia 		491 375 16 2.3E-02 1 2.6E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 37 8.7E-02 3 8.2E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 154 0.13 2 6.5E-03
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		507 248 16 2.3E-02 1 3.8E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 33 6.1E-02 1 3.8E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 19 5.4E-02 4 1.5E-02
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		453 235 22 3.4E-02 1 4.0E-03
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		1 201 1 4.7E-03 1 4.6E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 86 0.13 3 1.5E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		85 187 19 6.9E-02 3 1.5E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 112 0.11 1 5.6E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 161 7.3E-02 2 1.1E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 96 9.9E-02 3 2.0E-02
CUI: C0332563
Disease: Papule
Papule 		76 131 3 1.1E-02 1 6.8E-03
CUI: C0011334
Disease: Dental caries
Dental caries 		330 126 26 5.0E-02 1 7.0E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 18 5.0E-02 2 1.5E-02
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 121 50 4.7E-02 2 1.5E-02