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 22 0.24 0 0
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary 		44 0 23 0.21 0 0
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		20 65 18 0.20 15 7.0E-02
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 11 25 0.16 1 5.8E-03
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		113 0 24 0.14 0 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 24 0.13 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 27 0.12 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 35 0.12 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 43 28 0.11 12 6.2E-02
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 27 0.11 0 0
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia 		29 2 11 0.11 1 6.1E-03
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		24 28 10 1.0E-01 12 6.7E-02
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 24 9.9E-02 0 0
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		183 0 24 9.8E-02 0 0
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		94 0 16 9.8E-02 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 22 9.4E-02 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 25 8.8E-02 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 8.7E-02 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 25 8.4E-02 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 24 30 8.3E-02 2 1.1E-02
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 227 23 8.2E-02 3 7.8E-03
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		53 0 10 7.8E-02 0 0
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		29 41 8 7.5E-02 3 1.5E-02
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly 		45 4 9 7.4E-02 2 1.2E-02
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital 		63 0 10 7.2E-02 0 0