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 8 0.24 0 0
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder)
20 0 6 0.21 0 0
CUI: C0269209
Disease: Hydrometrocolpos
Hydrometrocolpos
7 0 3 0.17 0 0
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary
44 0 8 0.16 0 0
CUI: C4016908
Disease: BARDET-BIEDL SYNDROME 2/6, DIGENIC
BARDET-BIEDL SYNDROME 2/6, DIGENIC
2 0 2 0.14 0 0
CUI: C1834124
Disease: Shield chest
Shield chest
12 0 3 0.13 0 0
CUI: C1864795
Disease: Superior pectus carinatum
Superior pectus carinatum
5 0 2 0.12 0 0
Pectus excavatum of inferior sternum
5 0 2 0.12 0 0
CUI: C4024692
Disease: Reduced factor XIII activity
Reduced factor XIII activity
5 0 2 0.12 0 0
CUI: C4073145
Disease: Hyperkeratosis pilaris
Hyperkeratosis pilaris
5 0 2 0.12 0 0
CUI: C4021606
Disease: Mesoaxial hand polydactyly
Mesoaxial hand polydactyly
6 0 2 0.11 0 0
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1
6 0 2 0.11 0 0
CUI: C0398639
Disease: Amegakaryocytic thrombocytopenia
Amegakaryocytic thrombocytopenia
7 0 2 0.11 0 0
Functional abnormality of the gastrointestinal tract
7 0 2 0.11 0 0
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
29 0 4 0.10 0 0
CUI: C0019624
Disease: Histiocytosis, Non-Langerhans-Cell
Histiocytosis, Non-Langerhans-Cell
9 0 2 9.5E-02 0 0
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome
9 0 2 9.5E-02 0 0
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome
10 0 2 9.1E-02 0 0
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
11 0 2 8.7E-02 0 0
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
86 0 8 8.7E-02 0 0
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome
11 0 2 8.7E-02 0 0
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency
24 0 3 8.6E-02 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers
92 0 8 8.2E-02 0 0
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines
13 0 2 8.0E-02 0 0
CUI: C3551431
Disease: Sparse or absent eyelashes
Sparse or absent eyelashes
13 0 2 8.0E-02 0 0