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: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		5 0 4 0.13 0 0
CUI: C4551905
Disease: Pulmonary Venous Return Anomaly
Pulmonary Venous Return Anomaly 		14 0 5 0.13 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		140 0 18 0.12 0 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		85 0 12 0.12 0 0
CUI: C0239137
Disease: Coxa valga
Coxa valga 		68 0 10 0.11 0 0
CUI: C1840382
Disease: Abnormality of the ureter
Abnormality of the ureter 		19 0 5 0.11 0 0
CUI: C4025900
Disease: Abnormality of female internal genitalia
Abnormality of female internal genitalia 		31 0 6 0.11 0 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		73 0 10 0.11 0 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		85 0 11 0.11 0 0
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		80 0 10 1.0E-01 0 0
CUI: C1864794
Disease: Abnormality of the odontoid process
Abnormality of the odontoid process 		3 0 3 1.0E-01 0 0
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		83 0 10 9.7E-02 0 0
CUI: C1844753
Disease: Block vertebrae
Block vertebrae 		4 0 3 9.7E-02 0 0
CUI: C3150942
Disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE 		4 0 3 9.7E-02 0 0
CUI: C0013393
Disease: Dysostoses
Dysostoses 		16 0 4 9.5E-02 0 0
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		40 0 6 9.4E-02 0 0
CUI: C1861336
Disease: Aplasia/Hypoplasia of the distal phalanges of the hand
Aplasia/Hypoplasia of the distal phalanges of the hand 		6 0 3 9.1E-02 0 0
CUI: C1846435
Disease: Disproportionate short-trunk short stature
Disproportionate short-trunk short stature 		19 0 4 8.9E-02 0 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 16 8.8E-02 0 0
CUI: C1261470
Disease: Congenital meningocele
Congenital meningocele 		33 0 5 8.6E-02 0 0
CUI: C0268747
Disease: Diffuse mesangial sclerosis (disorder)
Diffuse mesangial sclerosis (disorder) 		22 0 4 8.3E-02 0 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		74 0 8 8.3E-02 0 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		89 0 9 8.2E-02 0 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 11 8.1E-02 0 0
CUI: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs 		37 0 5 8.1E-02 0 0