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: C1968999
Disease: Rib segmentation abnormalities
Rib segmentation abnormalities 		12 0 12 0.32 0 0
CUI: C4721788
Disease: Bifid ribs
Bifid ribs 		9 0 9 0.24 0 0
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		49 4 16 0.23 1 0.20
CUI: C3278509
Disease: Spinal fusion
Spinal fusion 		67 0 15 0.17 0 0
CUI: C0266623
Disease: Congenital anomaly of neck
Congenital anomaly of neck 		26 0 9 0.17 0 0
CUI: C1860243
Disease: Abnormal sternal ossification
Abnormal sternal ossification 		6 0 6 0.16 0 0
CUI: C1271219
Disease: Congenital ectopic pupil
Congenital ectopic pupil 		14 0 7 0.16 0 0
CUI: C1860244
Disease: Malrotation of small bowel
Malrotation of small bowel 		7 0 6 0.16 0 0
CUI: C0796117
Disease: Pitt-Rogers-Danks Syndrome
Pitt-Rogers-Danks Syndrome 		8 0 6 0.15 0 0
CUI: C1839858
Disease: Periventricular cysts
Periventricular cysts 		9 0 6 0.15 0 0
CUI: C1860253
Disease: Pseudoepiphyses of the metacarpals
Pseudoepiphyses of the metacarpals 		9 0 6 0.15 0 0
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		40 0 10 0.15 0 0
CUI: C1840380
Disease: Persistent cavum septum pellucidum
Persistent cavum septum pellucidum 		17 0 7 0.15 0 0
CUI: C0853877
Disease: Fistula of genitourinary tract
Fistula of genitourinary tract 		11 0 6 0.14 0 0
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		12 0 6 0.14 0 0
CUI: C0345397
Disease: Accessory rib
Accessory rib 		12 0 6 0.14 0 0
CUI: C1844825
Disease: Hyperconvex fingernails
Hyperconvex fingernails 		12 0 6 0.14 0 0
CUI: C1848977
Disease: Short upper lip
Short upper lip 		12 0 6 0.14 0 0
CUI: C3495489
Disease: Rieger eye malformation sequence
Rieger eye malformation sequence 		13 0 6 0.14 0 0
CUI: C1860247
Disease: Prominent glabella
Prominent glabella 		14 0 6 0.13 0 0
CUI: C0265341
Disease: Rieger syndrome
Rieger syndrome 		23 0 7 0.13 0 0
CUI: C1842870
Disease: Chromosome 1p36 Deletion Syndrome
Chromosome 1p36 Deletion Syndrome 		6 0 5 0.13 0 0
CUI: C1853296
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3 		6 0 5 0.13 0 0
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus 		41 0 9 0.13 0 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 11 14 0.13 1 8.3E-02