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: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		20 0 15 0.45 0 0
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary 		44 0 22 0.44 0 0
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		86 0 22 0.24 0 0
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia 		29 0 11 0.24 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 8 0.24 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 22 0.22 0 0
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		113 3 23 0.19 1 0.25
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 23 0.18 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 22 0.13 0 0
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		24 0 6 0.13 0 0
CUI: C0269209
Disease: Hydrometrocolpos
Hydrometrocolpos 		7 0 4 0.13 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 23 0.12 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 22 0.12 0 0
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly 		45 0 8 0.12 0 0
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		183 0 23 0.12 0 0
CUI: C0035637
Disease: Rinderpest
Rinderpest 		3 0 3 0.11 0 0
CUI: C0332154
Disease: Received therapy or drug for
Received therapy or drug for 		3 0 3 0.11 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 24 0.11 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 0 20 0.10 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 24 1.0E-01 0 0
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		94 0 11 9.9E-02 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 19 9.4E-02 0 0
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		10 0 3 8.6E-02 0 0
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		11 0 3 8.3E-02 0 0
CUI: C0521525
Disease: Short neck
Short neck 		288 29 24 8.2E-02 1 3.3E-02