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: C1837781
Disease: Increased subcutaneous truncal adipose tissue
Increased subcutaneous truncal adipose tissue 		1 0 1 1.00 0 0
CUI: C1861693
Disease: Cervical Vertebral Dysplasia
Cervical Vertebral Dysplasia 		1 0 1 1.00 0 0
CUI: C3502054
Disease: Leukodystrophy, Dysmyelinating, with Oligodontia
Leukodystrophy, Dysmyelinating, with Oligodontia 		1 0 1 1.00 0 0
CUI: C1295643
Disease: Increased estradiol level
Increased estradiol level 		2 0 1 0.50 0 0
CUI: C1868554
Disease: Irregular sclerotic endplates
Irregular sclerotic endplates 		2 0 1 0.50 0 0
CUI: C4022397
Disease: Congenital malformation of the left heart
Congenital malformation of the left heart 		2 0 1 0.50 0 0
CUI: C4476792
Disease: High myoinositol in brain by MRS
High myoinositol in brain by MRS 		2 0 1 0.50 0 0
CUI: C0406586
Disease: Wiedemann-Rautenstrauch syndrome
Wiedemann-Rautenstrauch syndrome 		3 0 1 0.33 0 0
CUI: C1269700
Disease: Caliectasis
Caliectasis 		3 0 1 0.33 0 0
CUI: C1859449
Disease: Thin long bone diaphyses
Thin long bone diaphyses 		3 0 1 0.33 0 0
CUI: C1866206
Disease: Dysplastic pulmonary valve
Dysplastic pulmonary valve 		3 0 1 0.33 0 0
CUI: C2677109
Disease: Leukodystrophy, Hypomyelinating, 4
Leukodystrophy, Hypomyelinating, 4 		3 0 1 0.33 0 0
CUI: C4020718
Disease: Wide nasal ridge
Wide nasal ridge 		3 0 1 0.33 0 0
CUI: C4022551
Disease: Wide penis
Wide penis 		3 0 1 0.33 0 0
CUI: C4022680
Disease: Lagopthalmos
Lagopthalmos 		3 0 1 0.33 0 0
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		4 0 1 0.25 0 0
CUI: C1836393
Disease: Abnormality of ocular smooth pursuit
Abnormality of ocular smooth pursuit 		5 0 1 0.20 0 0
CUI: C4023607
Disease: Abnormal corpus striatum morphology
Abnormal corpus striatum morphology 		5 0 1 0.20 0 0
CUI: C4025212
Disease: Autonomic bladder dysfunction
Autonomic bladder dysfunction 		5 0 1 0.20 0 0
CUI: C4072885
Disease: Increased serum testosterone level
Increased serum testosterone level 		5 0 1 0.20 0 0
CUI: C1837767
Disease: Loss of facial adipose tissue
Loss of facial adipose tissue 		6 0 1 0.17 0 0
CUI: C1856542
Disease: Prominent scalp veins
Prominent scalp veins 		6 0 1 0.17 0 0
CUI: C1857126
Disease: Parietal bossing
Parietal bossing 		7 0 1 0.14 0 0
CUI: C4021585
Disease: Impaired distal proprioception
Impaired distal proprioception 		7 0 1 0.14 0 0
CUI: C1855843
Disease: Severe intrauterine growth retardation
Severe intrauterine growth retardation 		9 0 1 0.11 0 0