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: C0740749
Disease: Chronic metabolic acidosis
Chronic metabolic acidosis 		6 0 2 0.11 0 0
CUI: C1720505
Disease: Adult growth hormone deficiency
Adult growth hormone deficiency 		6 0 2 0.11 0 0
CUI: C1971021
Disease: Potassium depletion
Potassium depletion 		6 0 2 0.11 0 0
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4 		6 0 2 0.11 0 0
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		7 0 2 1.0E-01 0 0
CUI: C3891556
Disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME
CHROMOSOME Xq26.3 DUPLICATION SYNDROME 		8 0 2 9.5E-02 0 0
CUI: C3897045
Disease: Short Stature Homeobox Deficiency
Short Stature Homeobox Deficiency 		8 0 2 9.5E-02 0 0
CUI: C1868577
Disease: Patella aplasia-hypoplasia
Patella aplasia-hypoplasia 		20 0 3 9.4E-02 0 0
CUI: C1855650
Disease: Birth length less than 3rd percentile
Birth length less than 3rd percentile 		21 0 3 9.1E-02 0 0
CUI: C4048228
Disease: Congenital anomaly of anterior segment of eye
Congenital anomaly of anterior segment of eye 		9 0 2 9.1E-02 0 0
CUI: C0154832
Disease: Exudative retinopathy
Exudative retinopathy 		23 0 3 8.6E-02 0 0
CUI: C0265372
Disease: Fetal hydantoin syndrome
Fetal hydantoin syndrome 		11 0 2 8.3E-02 0 0
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle 		11 0 2 8.3E-02 0 0
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		12 0 2 8.0E-02 0 0
CUI: C0346300
Disease: Pituitary carcinoma
Pituitary carcinoma 		13 0 2 7.7E-02 0 0
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		55 0 5 7.7E-02 0 0
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		56 0 5 7.6E-02 0 0
CUI: C1970109
Disease: AROMATASE EXCESS SYNDROME
AROMATASE EXCESS SYNDROME 		14 0 2 7.4E-02 0 0
CUI: C0270948
Disease: Neurogenic Muscular Atrophy
Neurogenic Muscular Atrophy 		15 0 2 7.1E-02 0 0
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus 		15 0 2 7.1E-02 0 0
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		30 0 3 7.1E-02 0 0
CUI: C0017547
Disease: Gigantism
Gigantism 		16 0 2 6.9E-02 0 0
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		16 0 2 6.9E-02 0 0
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		78 12 6 6.9E-02 4 0.29
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		63 0 5 6.8E-02 0 0