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: C1969029
Disease: Lissencephaly 3
Lissencephaly 3 		1 40 1 0.50 1 2.5E-02
CUI: C1836780
Disease: PANCREATIC AND CEREBELLAR AGENESIS
PANCREATIC AND CEREBELLAR AGENESIS 		2 0 1 0.33 0 0
CUI: C1850096
Disease: Pancreatic Agenesis, Congenital
Pancreatic Agenesis, Congenital 		2 0 1 0.33 0 0
CUI: C4303593
Disease: DEND syndrome
DEND syndrome 		3 0 1 0.25 0 0
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
Developmental Delay, Epilepsy, and Neonatal Diabetes 		4 0 1 0.20 0 0
CUI: C4274995
Disease: Lissencephaly with cerebellar hypoplasia
Lissencephaly with cerebellar hypoplasia 		4 0 1 0.20 0 0
CUI: C4021968
Disease: Aplasia/Hypoplasia of the pancreas
Aplasia/Hypoplasia of the pancreas 		5 0 1 0.17 0 0
CUI: C0586364
Disease: Moderate pancreatic duct dysplasia
Moderate pancreatic duct dysplasia 		7 0 1 0.12 0 0
CUI: C4225671
Disease: VATER/VACTERL ASSOCIATION
VATER/VACTERL ASSOCIATION 		8 0 1 0.11 0 0
CUI: C4321446
Disease: K ATP Permanent Neonatal Diabetes
K ATP Permanent Neonatal Diabetes 		8 0 1 0.11 0 0
CUI: C0302892
Disease: Congenital porencephaly
Congenital porencephaly 		9 0 1 1.0E-01 0 0
CUI: C1848411
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		9 0 1 1.0E-01 0 0
CUI: C2936332
Disease: Alpha-Sarcoglycanopathies
Alpha-Sarcoglycanopathies 		9 0 1 1.0E-01 0 0
CUI: C4082173
Disease: Porencephaly
Porencephaly 		9 0 1 1.0E-01 0 0
CUI: C3278636
Disease: Neonatal insulin-dependent diabetes mellitus
Neonatal insulin-dependent diabetes mellitus 		10 0 1 9.1E-02 0 0
CUI: C0424688
Disease: Small head
Small head 		11 0 1 8.3E-02 0 0
CUI: C0021141
Disease: Inappropriate ADH Syndrome
Inappropriate ADH Syndrome 		14 0 1 6.7E-02 0 0
CUI: C0020225
Disease: Hydranencephaly
Hydranencephaly 		15 0 1 6.2E-02 0 0
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas 		20 0 1 4.8E-02 0 0
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		20 0 1 4.8E-02 0 0
CUI: C1879312
Disease: Agyria
Agyria 		20 0 1 4.8E-02 0 0
CUI: C1857657
Disease: Reduced subcutaneous adipose tissue
Reduced subcutaneous adipose tissue 		21 0 1 4.5E-02 0 0
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		25 0 1 3.8E-02 0 0
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		59 14 2 3.4E-02 1 7.1E-02
CUI: C1334455
Disease: Pulmonary Sclerosing Hemangioma
Pulmonary Sclerosing Hemangioma 		33 0 1 2.9E-02 0 0