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: C0243057
Disease: Stomatognathic System Abnormalities
Stomatognathic System Abnormalities 		1 0 1 0.20 0 0
CUI: C0266878
Disease: External resorption of tooth
External resorption of tooth 		1 0 1 0.20 0 0
CUI: C0282643
Disease: Smith-Lemli-Opitz Syndrome, Type I
Smith-Lemli-Opitz Syndrome, Type I 		1 0 1 0.20 0 0
CUI: C0282644
Disease: Smith-Lemli-Opitz Syndrome, Type II
Smith-Lemli-Opitz Syndrome, Type II 		1 0 1 0.20 0 0
CUI: C0686761
Disease: Lack of bone formation
Lack of bone formation 		1 0 1 0.20 0 0
CUI: C0840564
Disease: Rupture of bladder
Rupture of bladder 		1 0 1 0.20 0 0
CUI: C1303076
Disease: Tortuous carotid artery
Tortuous carotid artery 		1 0 1 0.20 0 0
CUI: C1834969
Disease: Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly 		1 0 1 0.20 0 0
CUI: C1838416
Disease: CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY
CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY 		1 0 1 0.20 0 0
CUI: C1849185
Disease: Elevated 7-dehydrocholesterol
Elevated 7-dehydrocholesterol 		1 3 1 0.20 1 0.25
CUI: C1861516
Disease: Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly
Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly 		1 0 1 0.20 0 0
CUI: C1861517
Disease: Abnormal facility in opposing the shoulders
Abnormal facility in opposing the shoulders 		1 0 1 0.20 0 0
CUI: C1861531
Disease: Long second metacarpal
Long second metacarpal 		1 0 1 0.20 0 0
CUI: C2713347
Disease: 7-Dehydrocholesterol Reductase Deficiency
7-Dehydrocholesterol Reductase Deficiency 		1 0 1 0.20 0 0
CUI: C2931867
Disease: Dandy Walker cyst
Dandy Walker cyst 		1 0 1 0.20 0 0
CUI: C3549874
Disease: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY
METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY 		1 0 1 0.20 0 0
CUI: C4016655
Disease: CLEIDOCRANIAL DYSPLASIA, SEVERE, WITH OSTEOPOROSIS AND SCOLIOSIS
CLEIDOCRANIAL DYSPLASIA, SEVERE, WITH OSTEOPOROSIS AND SCOLIOSIS 		1 0 1 0.20 0 0
CUI: C4025158
Disease: Rudimentary postaxial polydactyly of hands
Rudimentary postaxial polydactyly of hands 		1 0 1 0.20 0 0
CUI: C4304594
Disease: 16q24.3 microdeletion syndrome
16q24.3 microdeletion syndrome 		1 0 1 0.20 0 0
CUI: C0038018
Disease: Spondylolysis
Spondylolysis 		9 0 2 0.17 0 0
CUI: C1141933
Disease: Multi-organ disorder
Multi-organ disorder 		2 0 1 0.17 0 0
CUI: C1835764
Disease: Vertebral arch anomaly
Vertebral arch anomaly 		2 0 1 0.17 0 0
CUI: C1844731
Disease: Hypoplastic nasal tip
Hypoplastic nasal tip 		2 2 1 0.17 2 1.00
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		2 0 1 0.17 0 0
CUI: C1855669
Disease: Absent frontal sinuses
Absent frontal sinuses 		9 0 2 0.17 0 0