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: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		42 33 8 1.3E-02 6 6.3E-02
CUI: C4303593
Disease: DEND syndrome
DEND syndrome 		3 8 2 3.4E-03 4 5.6E-02
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		2 21 1 1.7E-03 4 4.7E-02
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
Developmental Delay, Epilepsy, and Neonatal Diabetes 		4 5 2 3.4E-03 3 4.3E-02
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: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		20 108 3 5.0E-03 7 4.1E-02
CUI: C1833102
Disease: DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES 		3 9 2 3.4E-03 3 4.1E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 26 4.2E-02 7 4.0E-02
CUI: C0011882
Disease: Diabetic Neuropathies
Diabetic Neuropathies 		144 12 18 2.5E-02 3 3.9E-02
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		150 17 22 3.1E-02 3 3.7E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		1215 339 190 0.12 14 3.6E-02
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		41 83 6 9.7E-03 5 3.4E-02
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		297 33 40 4.8E-02 3 3.1E-02
CUI: C4746984
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 		1 2 1 1.7E-03 2 2.9E-02
CUI: C4023014
Disease: Stereotypical hand wringing
Stereotypical hand wringing 		8 5 6 1.0E-02 2 2.8E-02
CUI: C2751642
Disease: GLIOMA SUSCEPTIBILITY 2
GLIOMA SUSCEPTIBILITY 2 		1 6 1 1.7E-03 2 2.8E-02
CUI: C3278636
Disease: Neonatal insulin-dependent diabetes mellitus
Neonatal insulin-dependent diabetes mellitus 		10 6 2 3.4E-03 2 2.8E-02
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		114 7 39 5.9E-02 2 2.7E-02
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		24 7 6 1.0E-02 2 2.7E-02
CUI: C1848599
Disease: VACTERL Association With Hydrocephalus
VACTERL Association With Hydrocephalus 		5 7 1 1.7E-03 2 2.7E-02
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		71 9 21 3.3E-02 2 2.7E-02