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: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		31 0 7 8.6E-02 0 0
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		77 0 10 8.1E-02 0 0
CUI: C0265372
Disease: Fetal hydantoin syndrome
Fetal hydantoin syndrome 		11 0 5 7.9E-02 0 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology 		28 0 6 7.6E-02 0 0
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		16 0 5 7.4E-02 0 0
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		80 0 9 7.0E-02 0 0
CUI: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson syndrome 		35 0 6 7.0E-02 0 0
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		67 11 8 6.9E-02 1 8.3E-02
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		53 0 7 6.8E-02 0 0
CUI: C0795940
Disease: Filippi syndrome
Filippi syndrome 		6 0 4 6.8E-02 0 0
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia 		39 0 6 6.7E-02 0 0
CUI: C0425772
Disease: Premature development of the breasts
Premature development of the breasts 		7 0 4 6.7E-02 0 0
CUI: C1705254
Disease: Neonatal Deformity
Neonatal Deformity 		23 0 5 6.7E-02 0 0
CUI: C1836195
Disease: Short toe
Short toe 		56 0 7 6.6E-02 0 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 0 6 6.5E-02 0 0
CUI: C1858723
Disease: Poikiloderma with Neutropenia
Poikiloderma with Neutropenia 		25 0 5 6.5E-02 0 0
CUI: C1185616
Disease: Hair whorls
Hair whorls 		9 0 4 6.5E-02 0 0
CUI: C0265563
Disease: Congenital dislocation of radial head
Congenital dislocation of radial head 		27 0 5 6.3E-02 0 0
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE 		27 0 5 6.3E-02 0 0
CUI: C0262374
Disease: Stricture of anus
Stricture of anus 		28 0 5 6.2E-02 0 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		45 0 6 6.2E-02 0 0
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		63 0 7 6.2E-02 0 0
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		253 0 18 6.2E-02 0 0
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		48 0 6 6.1E-02 0 0
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		137 0 11 6.0E-02 0 0