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: C4021525
Disease: Abnormal pelvis bone ossification
Abnormal pelvis bone ossification 		7 0 6 0.60 0 0
CUI: C0269133
Disease: Urethrovaginal fistula
Urethrovaginal fistula 		6 0 5 0.50 0 0
CUI: C0432197
Disease: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome, Verma-Naumoff type 		6 0 5 0.50 0 0
CUI: C0339864
Disease: Bifid epiglottis
Bifid epiglottis 		8 0 5 0.42 0 0
CUI: C0266393
Disease: Congenital duplication of uterus
Congenital duplication of uterus 		9 0 5 0.38 0 0
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia 		17 0 7 0.37 0 0
CUI: C1850558
Disease: Horizontal sacrum
Horizontal sacrum 		3 0 3 0.33 0 0
CUI: C0432195
Disease: Short rib dysplasia
Short rib dysplasia 		5 0 3 0.27 0 0
CUI: C2910340
Disease: Asphyxiating thoracic dysplasia [Jeune]
Asphyxiating thoracic dysplasia [Jeune] 		5 0 3 0.27 0 0
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		16 0 5 0.25 0 0
CUI: C1406921
Disease: Thoracic dysplasia
Thoracic dysplasia 		6 0 3 0.25 0 0
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		20 0 5 0.21 0 0
CUI: C0266231
Disease: Ectopic anus
Ectopic anus 		20 0 5 0.21 0 0
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		21 0 5 0.20 0 0
CUI: C0431887
Disease: Hitch-hiker thumb
Hitch-hiker thumb 		3 0 2 0.20 0 0
CUI: C0575170
Disease: Cervical kyphosis
Cervical kyphosis 		3 0 2 0.20 0 0
CUI: C3806280
Disease: Laryngotracheal stenosis
Laryngotracheal stenosis 		3 0 2 0.20 0 0
CUI: C4024595
Disease: Abnormal ossification involving the femoral head and neck
Abnormal ossification involving the femoral head and neck 		3 0 2 0.20 0 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		35 0 7 0.19 0 0
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		29 0 6 0.19 0 0
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs 		29 0 6 0.19 0 0
CUI: C0685787
Disease: Cleft face
Cleft face 		23 0 5 0.19 0 0
CUI: C0265283
Disease: Atelosteogenesis, type 1
Atelosteogenesis, type 1 		4 0 2 0.18 0 0
CUI: C0266111
Disease: Bifid tongue
Bifid tongue 		24 0 5 0.18 0 0
CUI: C1835570
Disease: Hypoplastic cervical vertebrae
Hypoplastic cervical vertebrae 		5 0 2 0.17 0 0