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: C4310631
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS 		1 3 1 3.8E-02 3 0.60
CUI: C0426900
Disease: Tibial torsion
Tibial torsion 		12 1 1 2.7E-02 1 0.20
CUI: C4021829
Disease: Narrow nail
Narrow nail 		2 1 1 3.7E-02 1 0.20
CUI: C1836646
Disease: Dermal translucency
Dermal translucency 		10 2 2 5.9E-02 1 0.17
CUI: C1846545
Disease: Autoimmune Lymphoproliferative Syndrome Type 2B
Autoimmune Lymphoproliferative Syndrome Type 2B 		14 2 3 8.1E-02 1 0.17
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis 		23 5 1 2.1E-02 1 0.11
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		7 28 3 1.0E-01 3 1.0E-01
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		160 7 2 1.1E-02 1 9.1E-02
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 7 3 1.6E-02 1 9.1E-02
CUI: C0456103
Disease: Sepsis of the newborn
Sepsis of the newborn 		53 7 1 1.3E-02 1 9.1E-02
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		85 7 4 3.7E-02 1 9.1E-02
CUI: C1837756
Disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 		1 8 1 3.8E-02 1 8.3E-02
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		5 10 2 6.9E-02 1 7.1E-02
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		4 10 1 3.4E-02 1 7.1E-02
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		19 11 1 2.3E-02 1 6.7E-02
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		137 13 2 1.2E-02 1 5.9E-02
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		55 13 1 1.3E-02 1 5.9E-02
CUI: C1855650
Disease: Birth length less than 3rd percentile
Birth length less than 3rd percentile 		21 13 1 2.2E-02 1 5.9E-02
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		77 14 8 8.4E-02 1 5.6E-02
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		166 14 1 5.2E-03 1 5.6E-02
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		133 14 10 6.7E-02 1 5.6E-02
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		106 15 2 1.5E-02 1 5.3E-02
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 17 1 5.2E-03 1 4.8E-02
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		49 19 1 1.4E-02 1 4.3E-02
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 21 3 2.0E-02 1 4.0E-02