Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Congenital absence of kidneys syndrome
110 0 46 0.18 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
223 0 56 0.15 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
611 0 107 0.15 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
590 77 103 0.15 1 1.1E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
725 0 120 0.15 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
426 0 81 0.15 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
295 0 61 0.14 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome
137 9 41 0.14 1 4.8E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
325 0 64 0.14 0 0
CUI: C0241355
Disease: Small testicle
Small testicle
129 0 39 0.14 0 0
CUI: C0018418
Disease: Gynecomastia
Gynecomastia
121 0 38 0.14 0 0
Absence of secondary sex characteristics
44 0 28 0.13 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers
171 0 42 0.13 0 0
CUI: C0003126
Disease: Anosmia
Anosmia
40 0 27 0.13 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism
586 53 88 0.13 2 3.1E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
429 0 70 0.13 0 0
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
207 0 45 0.12 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
417 0 68 0.12 0 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea
129 0 36 0.12 0 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
186 0 42 0.12 0 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
196 0 43 0.12 0 0
CUI: C0520927
Disease: Decreased fertility
Decreased fertility
50 0 27 0.12 0 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
225 21 45 0.12 2 6.2E-02
CUI: C4073137
Disease: Decreased serum testosterone level
Decreased serum testosterone level
47 0 26 0.12 0 0
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density
76 0 29 0.12 0 0