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: C1857278
Disease: Partial or complete agenesis of corpus callosum
Partial or complete agenesis of corpus callosum 		5 6 1 8.3E-02 2 7.4E-02
CUI: C4014925
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 		1 6 1 0.12 1 3.6E-02
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		69 5 2 2.7E-02 1 3.7E-02
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		58 4 1 1.5E-02 2 8.0E-02
CUI: C1849185
Disease: Elevated 7-dehydrocholesterol
Elevated 7-dehydrocholesterol 		1 3 1 0.12 1 4.0E-02
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		41 2 1 2.1E-02 1 4.2E-02
CUI: C1844573
Disease: Large earlobe
Large earlobe 		18 2 1 4.0E-02 2 8.7E-02
CUI: C1844731
Disease: Hypoplastic nasal tip
Hypoplastic nasal tip 		2 2 1 0.11 2 8.7E-02
CUI: C1844752
Disease: Butterfly vertebrae
Butterfly vertebrae 		13 2 1 5.0E-02 1 4.2E-02
CUI: C1849537
Disease: Persistent open anterior fontanelle
Persistent open anterior fontanelle 		5 2 1 8.3E-02 2 8.7E-02
CUI: C1970816
Disease: Hypoplastic sacrum
Hypoplastic sacrum 		3 2 1 1.0E-01 1 4.2E-02
CUI: C4540004
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 		2 2 1 0.11 1 4.2E-02
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		18 1 1 4.0E-02 1 4.3E-02
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 0 5 4.5E-03 0 0
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		188 0 2 1.0E-02 0 0
CUI: C0000822
Disease: Abortion, Tubal
Abortion, Tubal 		109 0 1 8.6E-03 0 0
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae 		12 0 1 5.3E-02 0 0
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		46 0 1 1.9E-02 0 0
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris 		94 0 1 9.9E-03 0 0
CUI: C0001206
Disease: Acromegaly
Acromegaly 		138 0 4 2.8E-02 0 0
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic 		11 0 1 5.6E-02 0 0
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		435 0 3 6.8E-03 0 0
CUI: C0001403
Disease: Addison Disease
Addison Disease 		111 0 1 8.5E-03 0 0
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		2235 0 5 2.2E-03 0 0
CUI: C0001430
Disease: Adenoma
Adenoma 		1183 0 4 3.4E-03 0 0