Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma
1 0 1 1.00 0 0
CUI: C1368295
Disease: Malignant basal cell tumor
Malignant basal cell tumor
1 0 1 1.00 0 0
CUI: C1834038
Disease: Schilbach-Rott Syndrome
Schilbach-Rott Syndrome
1 0 1 1.00 0 0
Fusion of the left and right thalami
1 0 1 1.00 0 0
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7
1 0 1 1.00 0 0
Anomalous branches of internal carotid artery
1 1 1 1.00 1 1.00
CUI: C3711390
Disease: 9q22.3 Microdeletion
9q22.3 Microdeletion
1 0 1 1.00 0 0
CUI: C3805371
Disease: Pits of palms and soles
Pits of palms and soles
1 0 1 1.00 0 0
Enlarged epiphyses of the proximal phalanges of the hand
1 1 1 1.00 1 1.00
CUI: C4025542
Disease: Humeral cortical thickening
Humeral cortical thickening
1 1 1 1.00 1 1.00
CUI: C4025842
Disease: Abnormal uvea morphology
Abnormal uvea morphology
1 1 1 1.00 1 1.00
CUI: C4476818
Disease: Nevus sebaceus
Nevus sebaceus
1 0 1 1.00 0 0
Calcifying Epithelial Odontogenic Tumor
2 0 1 0.50 0 0
CUI: C1854245
Disease: Basal cell carcinoma, multiple
Basal cell carcinoma, multiple
2 0 1 0.50 0 0
CUI: C1859376
Disease: Fused sternal ossification centers
Fused sternal ossification centers
2 1 1 0.50 1 1.00
CUI: C1862314
Disease: Basal cell nevus
Basal cell nevus
2 0 1 0.50 0 0
CUI: C4020919
Disease: Dense metaphyseal bands
Dense metaphyseal bands
2 1 1 0.50 1 1.00
CUI: C4021598
Disease: Distal tibial bowing
Distal tibial bowing
2 1 1 0.50 1 1.00
CUI: C4022757
Disease: Moderate hearing impairment
Moderate hearing impairment
2 2 1 0.50 1 0.50
Abnormal Descemet membrane morphology
2 1 1 0.50 1 1.00
Abnormality of skin adnexa morphology
2 0 1 0.50 0 0
CUI: C4330671
Disease: Medulloblastoma, SHH-Activated
Medulloblastoma, SHH-Activated
2 0 1 0.50 0 0
CUI: C0022361
Disease: Jaw Cysts
Jaw Cysts
3 0 1 0.33 0 0
CUI: C0334482
Disease: Fetal rhabdomyoma
Fetal rhabdomyoma
3 0 1 0.33 0 0
CUI: C1265736
Disease: Orthokeratinized odontogenic cyst
Orthokeratinized odontogenic cyst
3 0 1 0.33 0 0