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: C1844562
Disease: Medial flaring of the eyebrow
Medial flaring of the eyebrow 		28 0 15 0.45 0 0
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary 		44 0 15 0.31 0 0
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		14 0 6 0.21 0 0
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		86 163 18 0.20 15 7.0E-02
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia 		29 0 8 0.20 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 18 0.19 0 0
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		24 0 7 0.19 0 0
CUI: C0269209
Disease: Hydrometrocolpos
Hydrometrocolpos 		7 0 4 0.17 0 0
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly 		45 4 9 0.16 1 1.5E-02
CUI: C0035637
Disease: Rinderpest
Rinderpest 		3 0 3 0.15 0 0
CUI: C0332154
Disease: Received therapy or drug for
Received therapy or drug for 		3 0 3 0.15 0 0
CUI: C2675305
Disease: BARDET-BIEDL SYNDROME 1, MODIFIER OF
BARDET-BIEDL SYNDROME 1, MODIFIER OF 		3 0 3 0.15 0 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 16 0.13 0 0
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		113 0 15 0.13 0 0
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		9 22 3 0.12 1 1.2E-02
CUI: C4023916
Disease: Aplasia/Hypoplasia of the tongue
Aplasia/Hypoplasia of the tongue 		19 0 4 0.11 0 0
CUI: C4551631
Disease: Cystic liver disease
Cystic liver disease 		19 0 4 0.11 0 0
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		10 6 3 0.11 1 1.4E-02
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		11 0 3 0.11 0 0
CUI: C1610065
Disease: Urethral atresia
Urethral atresia 		23 0 4 0.10 0 0
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder) 		2 17 2 1.0E-01 1 1.2E-02
CUI: C2713583
Disease: Congenital Tracheobronchomegaly
Congenital Tracheobronchomegaly 		2 0 2 1.0E-01 0 0
CUI: C4016908
Disease: BARDET-BIEDL SYNDROME 2/6, DIGENIC
BARDET-BIEDL SYNDROME 2/6, DIGENIC 		2 5 2 1.0E-01 1 1.4E-02
CUI: C4021330
Disease: Curved toe phalanx
Curved toe phalanx 		2 1 2 1.0E-01 1 1.5E-02
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 105 4 9.5E-02 1 5.9E-03