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: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate
55 0 31 0.16 0 0
CUI: C0566620
Disease: Nasal voice
Nasal voice
93 0 34 0.15 0 0
CUI: C1849295
Disease: Hypoplastic labia minora
Hypoplastic labia minora
30 0 24 0.14 0 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
97 0 32 0.14 0 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
217 0 46 0.14 0 0
CUI: C1843108
Disease: Short palm
Short palm
110 13 33 0.14 2 8.3E-02
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia
30 0 23 0.13 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
176 23 36 0.12 2 5.9E-02
CUI: C3494422
Disease: Retrognathia
Retrognathia
191 0 36 0.11 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
340 56 50 0.11 3 4.5E-02
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
129 0 29 0.11 0 0
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia
21 0 18 0.11 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
725 0 86 0.11 0 0
CUI: C0556280
Disease: Gross motor impairment
Gross motor impairment
22 0 18 0.11 0 0
CUI: C0239234
Disease: Low set ears
Low set ears
489 64 62 0.10 1 1.3E-02
Aplasia/Hypoplasia involving the skeletal musculature
19 0 17 0.10 0 0
CUI: C0014588
Disease: Epispadias
Epispadias
30 0 18 0.10 0 0
CUI: C0973461
Disease: Dysphasia
Dysphasia
63 0 21 0.10 0 0
CUI: C0575802
Disease: Small hand
Small hand
108 31 25 0.10 2 4.8E-02
CUI: C0035313
Disease: Retinal Dysplasia
Retinal Dysplasia
34 0 18 9.9E-02 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion
211 0 34 9.9E-02 0 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
148 18 28 9.8E-02 1 3.3E-02
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level
16 0 16 9.7E-02 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis
237 0 35 9.5E-02 0 0
CUI: C1853237
Disease: Isolated cases
Isolated cases
111 0 24 9.5E-02 0 0