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: C0152207
Disease: Alternating Exotropia
Alternating Exotropia 		1 1 1 0.50 1 1.00
CUI: C0233283
Disease: Complete breech presentation
Complete breech presentation 		1 0 1 0.50 0 0
CUI: C3150353
Disease: Ventral septal defect (VSD)
Ventral septal defect (VSD) 		1 0 1 0.50 0 0
CUI: C3806616
Disease: Macular hypopigmented whorls, streaks, and patches
Macular hypopigmented whorls, streaks, and patches 		1 1 1 0.50 1 1.00
CUI: C4024854
Disease: Irregular hyperpigmentation of back
Irregular hyperpigmentation of back 		1 1 1 0.50 1 1.00
CUI: C4225161
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		1 0 1 0.50 0 0
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		1 0 1 0.50 0 0
CUI: C4476709
Disease: Delayed ability to stand
Delayed ability to stand 		1 1 1 0.50 1 1.00
CUI: C4479673
Disease: FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC
FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC 		1 0 1 0.50 0 0
CUI: C4551756
Disease: Waldenstrom's macroglobulinaemia refractory
Waldenstrom's macroglobulinaemia refractory 		1 0 1 0.50 0 0
CUI: C0013691
Disease: Chylous effusion
Chylous effusion 		2 0 1 0.33 0 0
CUI: C0549400
Disease: Low APGAR score
Low APGAR score 		2 0 1 0.33 0 0
CUI: C1260966
Disease: Central odontogenic fibroma
Central odontogenic fibroma 		2 0 1 0.33 0 0
CUI: C1835764
Disease: Vertebral arch anomaly
Vertebral arch anomaly 		2 1 1 0.33 1 1.00
CUI: C1836791
Disease: Tortuous cerebral arteries
Tortuous cerebral arteries 		2 0 1 0.33 0 0
CUI: C1866245
Disease: Hyperpigmented streaks
Hyperpigmented streaks 		2 1 1 0.33 1 1.00
CUI: C0008519
Disease: Ectopic Tissue
Ectopic Tissue 		3 4 1 0.25 1 0.25
CUI: C0039234
Disease: Tachycardia, Ectopic Atrial
Tachycardia, Ectopic Atrial 		3 0 1 0.25 0 0
CUI: C0153886
Disease: Acute myeloid leukemia in remission
Acute myeloid leukemia in remission 		3 0 1 0.25 0 0
CUI: C1519714
Disease: Type II Endometrial Adenocarcinoma
Type II Endometrial Adenocarcinoma 		3 0 1 0.25 0 0
CUI: C1846386
Disease: Focal Cortical Dysplasia of Taylor, Type IIa
Focal Cortical Dysplasia of Taylor, Type IIa 		3 0 1 0.25 0 0
CUI: C1846389
Disease: Focal Cortical Dysplasia of Taylor, Type IIb
Focal Cortical Dysplasia of Taylor, Type IIb 		3 0 1 0.25 0 0
CUI: C1860606
Disease: Short proximal phalanx of finger
Short proximal phalanx of finger 		3 0 1 0.25 0 0
CUI: C4021217
Disease: EEG with generalized slow activity
EEG with generalized slow activity 		8 6 2 0.25 1 0.17
CUI: C4324689
Disease: Pauci-immune glomerulonephritis
Pauci-immune glomerulonephritis 		3 0 1 0.25 0 0