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: C1853296
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3 		6 0 4 0.22 0 0
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		7 0 4 0.21 0 0
CUI: C1864794
Disease: Abnormality of the odontoid process
Abnormality of the odontoid process 		3 0 3 0.19 0 0
CUI: C1844753
Disease: Block vertebrae
Block vertebrae 		4 0 3 0.18 0 0
CUI: C0853877
Disease: Fistula of genitourinary tract
Fistula of genitourinary tract 		11 0 4 0.17 0 0
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		12 0 4 0.17 0 0
CUI: C1968999
Disease: Rib segmentation abnormalities
Rib segmentation abnormalities 		12 0 4 0.17 0 0
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		5 0 3 0.17 0 0
CUI: C4551905
Disease: Pulmonary Venous Return Anomaly
Pulmonary Venous Return Anomaly 		14 0 4 0.15 0 0
CUI: C4025900
Disease: Abnormality of female internal genitalia
Abnormality of female internal genitalia 		31 0 6 0.15 0 0
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix 		17 0 4 0.14 0 0
CUI: C1856136
Disease: Conical incisor
Conical incisor 		10 0 3 0.13 0 0
CUI: C1840382
Disease: Abnormality of the ureter
Abnormality of the ureter 		19 0 4 0.13 0 0
CUI: C0341007
Disease: Alveolar ridge abnormality
Alveolar ridge abnormality 		2 0 2 0.12 0 0
CUI: C1857005
Disease: Cone-shaped epiphyses of phalanges 2 to 5
Cone-shaped epiphyses of phalanges 2 to 5 		2 0 2 0.12 0 0
CUI: C1395317
Disease: Dextrocardia with situs inversus
Dextrocardia with situs inversus 		3 0 2 0.12 0 0
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		4 0 2 0.11 0 0
CUI: C3150942
Disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE 		4 0 2 0.11 0 0
CUI: C3808270
Disease: Acetabular spurs
Acetabular spurs 		5 0 2 0.11 0 0
CUI: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs 		37 0 5 0.10 0 0
CUI: C1845272
Disease: Prominent antihelix
Prominent antihelix 		6 0 2 1.0E-01 0 0
CUI: C1857456
Disease: Morphological abnormality of the middle ear
Morphological abnormality of the middle ear 		6 0 2 1.0E-01 0 0
CUI: C4023170
Disease: Abnormal oral mucosa morphology
Abnormal oral mucosa morphology 		6 0 2 1.0E-01 0 0
CUI: C0426789
Disease: Short thorax
Short thorax 		51 0 6 9.8E-02 0 0
CUI: C4025249
Disease: Abnormality of the intervertebral disk
Abnormality of the intervertebral disk 		30 0 4 9.5E-02 0 0