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: C1866559
Disease: Spina Bifida, Folate-Sensitive
Spina Bifida, Folate-Sensitive
5 0 3 7.0E-02 0 0
CUI: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs
37 0 5 6.8E-02 0 0
CUI: C1845026
Disease: Neural tube defects X-linked
Neural tube defects X-linked
6 0 3 6.8E-02 0 0
CUI: C0745730
Disease: Multiple lipomata
Multiple lipomata
38 0 5 6.8E-02 0 0
CUI: C1855698
Disease: Aplasia cutis congenita of scalp
Aplasia cutis congenita of scalp
7 0 3 6.7E-02 0 0
CUI: C4551722
Disease: Encephalocele
Encephalocele
23 0 4 6.7E-02 0 0
CUI: C0079741
Disease: Lymphoma, Intermediate-Grade
Lymphoma, Intermediate-Grade
24 0 4 6.6E-02 0 0
CUI: C0266249
Disease: Gallbladder anomaly congenital
Gallbladder anomaly congenital
8 0 3 6.5E-02 0 0
Neurodegeneration Due To Cerebral Folate Transport Deficiency
8 0 3 6.5E-02 0 0
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus
41 0 5 6.5E-02 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
42 0 5 6.4E-02 0 0
CUI: C0234853
Disease: Facial grimacing
Facial grimacing
10 0 3 6.2E-02 0 0
CUI: C0752235
Disease: Lyme Neuroborreliosis
Lyme Neuroborreliosis
11 0 3 6.1E-02 0 0
CUI: C0000832
Disease: Abruptio Placentae
Abruptio Placentae
12 0 3 6.0E-02 0 0
CUI: C1968999
Disease: Rib segmentation abnormalities
Rib segmentation abnormalities
12 0 3 6.0E-02 0 0
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
30 0 4 6.0E-02 0 0
CUI: C0079770
Disease: Lymphoma, Small Noncleaved-Cell
Lymphoma, Small Noncleaved-Cell
32 0 4 5.8E-02 0 0
CUI: C1261470
Disease: Congenital meningocele
Congenital meningocele
33 0 4 5.7E-02 0 0
CUI: C0220810
Disease: Congenital defects
Congenital defects
126 0 9 5.7E-02 0 0
CUI: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome
34 0 4 5.6E-02 0 0
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation
53 0 5 5.6E-02 0 0
CUI: C0030353
Disease: Papilledema
Papilledema
35 0 4 5.6E-02 0 0
CUI: C3150086
Disease: Aplasia/Hypoplasia of the nipples
Aplasia/Hypoplasia of the nipples
16 0 3 5.6E-02 0 0
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
73 0 6 5.6E-02 0 0
CUI: C1856119
Disease: Low hanging columella
Low hanging columella
17 0 3 5.5E-02 0 0