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: C2047886
Disease: (Idiopathic) normal pressure hydrocephalus
(Idiopathic) normal pressure hydrocephalus 		14 0 1 9.7E-04 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 1 9.7E-04 0 0
CUI: C4755260
Disease: 12p12.1 microdeletion syndrome
12p12.1 microdeletion syndrome 		1 0 1 9.9E-04 0 0
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		1 0 1 9.9E-04 0 0
CUI: C4518822
Disease: 17q12 microdeletion syndrome
17q12 microdeletion syndrome 		1 0 1 9.9E-04 0 0
CUI: C4304578
Disease: 1p21.3 microdeletion syndrome
1p21.3 microdeletion syndrome 		1 0 1 9.9E-04 0 0
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis 		6 0 1 9.8E-04 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 8 7.3E-03 0 0
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		14 0 2 1.9E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 9.4E-04 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 3 2.9E-03 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 3 2.9E-03 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 2 1.9E-03 0 0
CUI: C1861376
Disease: 2nd-5th toe middle phalangeal hypoplasia
2nd-5th toe middle phalangeal hypoplasia 		2 0 1 9.9E-04 0 0
CUI: C4304537
Disease: 2p21 microdeletion syndrome
2p21 microdeletion syndrome 		4 0 1 9.8E-04 0 0
CUI: C4749458
Disease: 2p21 microdeletion syndrome without cystinuria
2p21 microdeletion syndrome without cystinuria 		2 0 1 9.9E-04 0 0
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		9 0 1 9.8E-04 0 0
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency 		5 0 1 9.8E-04 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 2 1.9E-03 0 0
CUI: C1837836
Disease: 4-5 toe syndactyly
4-5 toe syndactyly 		4 0 1 9.8E-04 0 0
CUI: C2936420
Disease: 46, XX Gonadal Sex Reversal
46, XX Gonadal Sex Reversal 		1 0 1 9.9E-04 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 2 1.9E-03 0 0
CUI: C3714042
Disease: 46,XY Disorder of Sex Development Due To LH Defects
46,XY Disorder of Sex Development Due To LH Defects 		1 0 1 9.9E-04 0 0
CUI: C1856273
Disease: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 		1 0 1 9.9E-04 0 0
CUI: C2751325
Disease: 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy 		1 0 1 9.9E-04 0 0