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: C1842870
Disease: Chromosome 1p36 Deletion Syndrome
Chromosome 1p36 Deletion Syndrome 		6 0 5 0.25 0 0
CUI: C4721788
Disease: Bifid ribs
Bifid ribs 		9 0 5 0.22 0 0
CUI: C3277019
Disease: Horizontal eyebrow
Horizontal eyebrow 		11 0 5 0.20 0 0
CUI: C4021822
Disease: Abnormality of female external genitalia
Abnormality of female external genitalia 		15 0 5 0.17 0 0
CUI: C4025329
Disease: Abnormality of the anus
Abnormality of the anus 		16 0 5 0.17 0 0
CUI: C4316788
Disease: Abnormality of the intestine
Abnormality of the intestine 		19 0 5 0.15 0 0
CUI: C0856748
Disease: Aneurysm of aortic arch
Aneurysm of aortic arch 		20 0 5 0.15 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 5 0.15 0 0
CUI: C0266623
Disease: Congenital anomaly of neck
Congenital anomaly of neck 		26 0 5 0.12 0 0
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		26 0 5 0.12 0 0
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		27 0 5 0.12 0 0
CUI: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs 		37 0 6 0.12 0 0
CUI: C0332573
Disease: Macule
Macule 		31 0 5 0.11 0 0
CUI: C0039446
Disease: Telangiectasis
Telangiectasis 		43 0 6 0.11 0 0
CUI: C1861329
Disease: Spinal canal stenosis
Spinal canal stenosis 		35 0 5 0.10 0 0
CUI: C0012241
Disease: Congenital anomaly of gastrointestinal tract
Congenital anomaly of gastrointestinal tract 		3 0 2 1.0E-01 0 0
CUI: C4476761
Disease: Abnormal spleen morphology
Abnormal spleen morphology 		3 0 2 1.0E-01 0 0
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		37 0 5 9.8E-02 0 0
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		5 0 2 9.1E-02 0 0
CUI: C0277828
Disease: Late fontanel closure
Late fontanel closure 		41 0 5 9.1E-02 0 0
CUI: C0577063
Disease: Gallbladder absent
Gallbladder absent 		5 0 2 9.1E-02 0 0
CUI: C4021968
Disease: Aplasia/Hypoplasia of the pancreas
Aplasia/Hypoplasia of the pancreas 		5 0 2 9.1E-02 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		42 0 5 8.9E-02 0 0
CUI: C0266251
Disease: Gallbladder, Agenesis Of
Gallbladder, Agenesis Of 		7 0 2 8.3E-02 0 0
CUI: C2677362
Disease: Alveolar capillary dysplasia
Alveolar capillary dysplasia 		7 0 2 8.3E-02 0 0