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: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 575 0.31 40 6.9E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 190 0.12 14 3.6E-02
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		20 108 3 5.0E-03 7 4.1E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 26 4.2E-02 7 4.0E-02
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		42 33 8 1.3E-02 6 6.3E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 74 0.10 6 1.3E-02
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		270 139 28 3.4E-02 5 2.5E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 188 0.14 5 7.8E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		10161 1644 418 4.0E-02 5 2.9E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 316 0.13 5 8.1E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 179 0.12 5 1.4E-02
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		41 83 6 9.7E-03 5 3.4E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 142 0.16 5 7.4E-03
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		3 56 2 3.4E-03 5 4.2E-02
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		3 56 2 3.4E-03 5 4.2E-02
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		3 56 2 3.4E-03 5 4.2E-02
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		4 56 3 5.1E-03 5 4.2E-02
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		17 194 7 1.2E-02 5 1.9E-02
CUI: C0011847
Disease: Diabetes
Diabetes 		2359 710 146 5.2E-02 4 5.2E-03
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		2803 824 174 5.4E-02 4 4.5E-03
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		88 6387 18 2.8E-02 4 6.2E-04
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		85 187 17 2.6E-02 4 1.6E-02
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		2780 385 168 5.3E-02 4 8.9E-03
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		1071 331 163 0.11 4 1.0E-02
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		2 21 1 1.7E-03 4 4.7E-02