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: C4476893
Disease: Reduced brain glutamine level by MRS
Reduced brain glutamine level by MRS 		1 0 1 0.33 0 0
CUI: C4476932
Disease: Tarsal sclerosis
Tarsal sclerosis 		1 0 1 0.33 0 0
CUI: C4477005
Disease: Impaired oral bolus formation
Impaired oral bolus formation 		1 0 1 0.33 0 0
CUI: C0334574
Disease: Calcifying Epithelial Odontogenic Tumor
Calcifying Epithelial Odontogenic Tumor 		2 0 1 0.25 0 0
CUI: C1295643
Disease: Increased estradiol level
Increased estradiol level 		2 0 1 0.25 0 0
CUI: C1854245
Disease: Basal cell carcinoma, multiple
Basal cell carcinoma, multiple 		2 0 1 0.25 0 0
CUI: C1857126
Disease: Parietal bossing
Parietal bossing 		7 0 2 0.25 0 0
CUI: C1859376
Disease: Fused sternal ossification centers
Fused sternal ossification centers 		2 1 1 0.25 1 1.00
CUI: C1862314
Disease: Basal cell nevus
Basal cell nevus 		2 0 1 0.25 0 0
CUI: C1868554
Disease: Irregular sclerotic endplates
Irregular sclerotic endplates 		2 0 1 0.25 0 0
CUI: C4020919
Disease: Dense metaphyseal bands
Dense metaphyseal bands 		2 1 1 0.25 1 1.00
CUI: C4021598
Disease: Distal tibial bowing
Distal tibial bowing 		2 1 1 0.25 1 1.00
CUI: C4022397
Disease: Congenital malformation of the left heart
Congenital malformation of the left heart 		2 0 1 0.25 0 0
CUI: C4022757
Disease: Moderate hearing impairment
Moderate hearing impairment 		2 2 1 0.25 1 0.50
CUI: C4022763
Disease: Elevated brain choline level by MRS
Elevated brain choline level by MRS 		2 0 1 0.25 0 0
CUI: C4023330
Disease: Abnormal Descemet membrane morphology
Abnormal Descemet membrane morphology 		2 1 1 0.25 1 1.00
CUI: C4023518
Disease: Abnormality of skin adnexa morphology
Abnormality of skin adnexa morphology 		2 0 1 0.25 0 0
CUI: C4330671
Disease: Medulloblastoma, SHH-Activated
Medulloblastoma, SHH-Activated 		2 0 1 0.25 0 0
CUI: C4476788
Disease: Decreased CSF 5-hydroxyindolacetic acid
Decreased CSF 5-hydroxyindolacetic acid 		2 0 1 0.25 0 0
CUI: C0022361
Disease: Jaw Cysts
Jaw Cysts 		3 0 1 0.20 0 0
CUI: C0334482
Disease: Fetal rhabdomyoma
Fetal rhabdomyoma 		3 0 1 0.20 0 0
CUI: C0406586
Disease: Wiedemann-Rautenstrauch syndrome
Wiedemann-Rautenstrauch syndrome 		3 0 1 0.20 0 0
CUI: C1265736
Disease: Orthokeratinized odontogenic cyst
Orthokeratinized odontogenic cyst 		3 0 1 0.20 0 0
CUI: C1269700
Disease: Caliectasis
Caliectasis 		3 0 1 0.20 0 0
CUI: C1859449
Disease: Thin long bone diaphyses
Thin long bone diaphyses 		3 0 1 0.20 0 0