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 11 0.24 0 0
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		20 0 8 0.20 0 0
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary 		44 0 11 0.18 0 0
CUI: C0269209
Disease: Hydrometrocolpos
Hydrometrocolpos 		7 0 4 0.12 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 13 0.12 0 0
CUI: C4025835
Disease: Abnormal nasolacrimal system morphology
Abnormal nasolacrimal system morphology 		23 0 5 0.11 0 0
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		86 163 11 0.11 1 6.1E-03
CUI: C0035637
Disease: Rinderpest
Rinderpest 		3 5 3 0.10 1 0.17
CUI: C0332154
Disease: Received therapy or drug for
Received therapy or drug for 		3 5 3 0.10 1 0.17
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 4 0.10 0 0
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		113 0 13 0.10 0 0
CUI: C0026825
Disease: Flaccid Muscle Tone
Flaccid Muscle Tone 		16 0 4 9.8E-02 0 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 13 9.5E-02 0 0
CUI: C4025773
Disease: Aplasia/Hypoplasia involving the skeletal musculature
Aplasia/Hypoplasia involving the skeletal musculature 		19 0 4 9.1E-02 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 16 8.7E-02 0 0
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		9 0 3 8.6E-02 0 0
CUI: C4021998
Disease: Lack of skin elasticity
Lack of skin elasticity 		22 0 4 8.5E-02 0 0
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		10 0 3 8.3E-02 0 0
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		24 28 4 8.2E-02 1 3.4E-02
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 22 7.1E-02 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 43 14 6.9E-02 1 2.3E-02
CUI: C1855792
Disease: ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1
ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1 		2 0 2 6.9E-02 0 0
CUI: C1970253
Disease: Phosphoserine Aminotransferase Deficiency
Phosphoserine Aminotransferase Deficiency 		2 0 2 6.9E-02 0 0
CUI: C2713583
Disease: Congenital Tracheobronchomegaly
Congenital Tracheobronchomegaly 		2 0 2 6.9E-02 0 0
CUI: C4016908
Disease: BARDET-BIEDL SYNDROME 2/6, DIGENIC
BARDET-BIEDL SYNDROME 2/6, DIGENIC 		2 0 2 6.9E-02 0 0