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: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13
2 24 2 1.00 21 0.78
LEBER CONGENITAL AMAUROSIS 6 (disorder)
2 0 1 0.33 0 0
CUI: C2713583
Disease: Congenital Tracheobronchomegaly
Congenital Tracheobronchomegaly
2 0 1 0.33 0 0
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
3 0 1 0.25 0 0
CUI: C3280766
Disease: JOUBERT SYNDROME 14
JOUBERT SYNDROME 14
3 0 1 0.25 0 0
CUI: C0566693
Disease: Large placenta
Large placenta
4 0 1 0.20 0 0
Elevated amniotic fluid alpha-fetoprotein
4 0 1 0.20 0 0
CUI: C1855335
Disease: Hypoplasia of the bladder
Hypoplasia of the bladder
4 0 1 0.20 0 0
CUI: C4274118
Disease: Joubert syndrome with ocular defect
Joubert syndrome with ocular defect
5 0 1 0.17 0 0
CUI: C0269209
Disease: Hydrometrocolpos
Hydrometrocolpos
7 0 1 0.12 0 0
CUI: C1855331
Disease: Olfactory lobe agenesis
Olfactory lobe agenesis
7 0 1 0.12 0 0
CUI: C0240595
Disease: Rotary Nystagmus
Rotary Nystagmus
9 3 1 1.0E-01 1 3.8E-02
CUI: C0399452
Disease: Supragingival dental plaque
Supragingival dental plaque
9 0 1 1.0E-01 0 0
CUI: C1855330
Disease: Cerebral hypoplasia
Cerebral hypoplasia
9 0 1 1.0E-01 0 0
CUI: C0431637
Disease: Mullerian aplasia
Mullerian aplasia
10 0 1 9.1E-02 0 0
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome
10 0 1 9.1E-02 0 0
CUI: C4025891
Disease: Ambiguous genitalia, female
Ambiguous genitalia, female
10 0 1 9.1E-02 0 0
CUI: C1855675
Disease: Arima syndrome
Arima syndrome
11 0 1 8.3E-02 0 0
CUI: C4021777
Disease: Abnormality of the larynx
Abnormality of the larynx
11 0 1 8.3E-02 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
26 105 2 7.7E-02 5 4.0E-02
CUI: C1834931
Disease: Cystic renal dysplasia
Cystic renal dysplasia
12 0 1 7.7E-02 0 0
CUI: C4021823
Disease: Ambiguous genitalia, male
Ambiguous genitalia, male
13 0 1 7.1E-02 0 0
CUI: C0431564
Disease: Lobulated tongue
Lobulated tongue
14 0 1 6.7E-02 0 0
Recurrent respiratory tract infections
14 0 1 6.7E-02 0 0
CUI: C4727916
Disease: H3N2 influenza
H3N2 influenza
16 0 1 5.9E-02 0 0