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: C1842231
Disease: Broad metatarsal
Broad metatarsal
7 0 3 0.13 0 0
CUI: C0423808
Disease: Brachyonychia
Brachyonychia
11 0 3 0.11 0 0
CUI: C1842229
Disease: Broad metacarpals
Broad metacarpals
12 0 3 0.11 0 0
CUI: C0751061
Disease: Craniopharyngioma, Child
Craniopharyngioma, Child
2 0 2 0.11 0 0
CUI: C4021250
Disease: Intracranial cystic lesion
Intracranial cystic lesion
2 0 2 0.11 0 0
CUI: C4021873
Disease: Abnormality of the frontal bone
Abnormality of the frontal bone
2 0 2 0.11 0 0
CUI: C4023637
Disease: Abnormality of the nasal bone
Abnormality of the nasal bone
2 0 2 0.11 0 0
CUI: C0424693
Disease: Broad skull
Broad skull
3 0 2 1.0E-01 0 0
Tongue thrusting when swallowing, abnormal persistence beyond early childhood
3 0 2 1.0E-01 0 0
CUI: C1833325
Disease: Thin bony cortex
Thin bony cortex
14 0 3 1.0E-01 0 0
Increased anterioposterior diameter of thorax
3 0 2 1.0E-01 0 0
Weill-Marchesani Syndrome, Autosomal Recessive
3 0 2 1.0E-01 0 0
Weill-Marchesani Syndrome, Autosomal Dominant
3 0 2 1.0E-01 0 0
CUI: C4025148
Disease: Hyperextensible thumb
Hyperextensible thumb
3 0 2 1.0E-01 0 0
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly
49 19 6 9.7E-02 1 3.4E-02
CUI: C0575535
Disease: Thin clavicle
Thin clavicle
4 0 2 9.5E-02 0 0
CUI: C0854021
Disease: Abnormal visual field test
Abnormal visual field test
4 0 2 9.5E-02 0 0
CUI: C1963135
Disease: Hepatic Necrosis, CTCAE 3.0
Hepatic Necrosis, CTCAE 3.0
4 0 2 9.5E-02 0 0
CUI: C4021095
Disease: Abnormal hypothalamus morphology
Abnormal hypothalamus morphology
4 0 2 9.5E-02 0 0
CUI: C4021391
Disease: Broad phalanges of the hand
Broad phalanges of the hand
4 0 2 9.5E-02 0 0
Tapering pointed ends of distal finger phalanges
4 0 2 9.5E-02 0 0
CUI: C4554166
Disease: Hepatic Necrosis, CTCAE 5.0
Hepatic Necrosis, CTCAE 5.0
4 0 2 9.5E-02 0 0
CUI: C0024694
Disease: Mandibular Neoplasms
Mandibular Neoplasms
5 0 2 9.1E-02 0 0
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome
5 0 2 9.1E-02 0 0
CUI: C1829460
Disease: Tongue thrusting
Tongue thrusting
5 0 2 9.1E-02 0 0