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: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		34 0 1 1.0E-03 0 0
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		34 0 1 1.0E-03 0 0
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		33 9 1 1.0E-03 1 1.7E-02
CUI: C0036346
Disease: Schizophrenia, Childhood
Schizophrenia, Childhood 		33 20 1 1.0E-03 1 1.4E-02
CUI: C1261470
Disease: Congenital meningocele
Congenital meningocele 		33 0 1 1.0E-03 0 0
CUI: C1697453
Disease: Spontaneous hematomas
Spontaneous hematomas 		33 0 1 1.0E-03 0 0
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		33 0 1 1.0E-03 0 0
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		33 0 1 1.0E-03 0 0
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		32 0 1 1.0E-03 0 0
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		32 0 1 1.0E-03 0 0
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		32 0 1 1.0E-03 0 0
CUI: C1332199
Disease: Adult Desmoplastic Small Round Cell Tumor
Adult Desmoplastic Small Round Cell Tumor 		32 0 1 1.0E-03 0 0
CUI: C1332966
Disease: Childhood Desmoplastic Small Round Cell Tumor
Childhood Desmoplastic Small Round Cell Tumor 		32 0 1 1.0E-03 0 0
CUI: C4021620
Disease: Clinodactyly of the 2nd toe
Clinodactyly of the 2nd toe 		32 0 1 1.0E-03 0 0
CUI: C0038663
Disease: Suicide attempt
Suicide attempt 		31 0 1 1.0E-03 0 0
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		31 0 1 1.0E-03 0 0
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		31 0 1 1.0E-03 0 0
CUI: C1298695
Disease: Hypoplasia of optic disc
Hypoplasia of optic disc 		31 0 1 1.0E-03 0 0
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		31 0 1 1.0E-03 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 1 1.0E-03 0 0
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		30 0 1 1.0E-03 0 0
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons 		30 0 1 1.0E-03 0 0
CUI: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia 		30 0 1 1.0E-03 0 0
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		30 0 1 1.0E-03 0 0
CUI: C3151867
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED 		30 0 1 1.0E-03 0 0