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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
85 16 1 1.2E-02 1 5.9E-02
CUI: C0855997
Disease: Abnormal basophil morphology
Abnormal basophil morphology
3 0 1 0.33 0 0
CUI: C4023165
Disease: Abnormality of skeletal morphology
Abnormality of skeletal morphology
1 2 1 1.00 2 1.00
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly
109 0 1 9.2E-03 0 0
Acute lymphoblastic leukemia with lymphomatous features
6 0 1 0.17 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
121 8 1 8.3E-03 1 0.11
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
250 43 1 4.0E-03 1 2.3E-02
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
2 0 1 0.50 0 0
CUI: C1856121
Disease: Broad eyebrow
Broad eyebrow
11 4 1 9.1E-02 1 0.20
CUI: C1849089
Disease: Broad forehead
Broad forehead
133 0 1 7.5E-03 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
496 0 1 2.0E-03 0 0
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers
152 0 1 6.6E-03 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
284 39 1 3.5E-03 1 2.5E-02
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly
112 0 1 8.9E-03 0 0
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
81 21 1 1.2E-02 1 4.5E-02
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
1 2 1 1.00 2 1.00
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
6 33 1 0.17 2 6.1E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
259 35 1 3.9E-03 1 2.8E-02
CUI: C0009806
Disease: Constipation
Constipation
289 0 1 3.5E-03 0 0
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
196 0 1 5.1E-03 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
596 47 1 1.7E-03 1 2.1E-02
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata
77 9 1 1.3E-02 1 1.0E-01
CUI: C0232462
Disease: Decrease in appetite
Decrease in appetite
33 0 1 3.0E-02 0 0
CUI: C0011334
Disease: Dental caries
Dental caries
191 0 1 5.2E-03 0 0
CUI: C4317152
Disease: Dimple chin
Dimple chin
16 2 1 6.2E-02 1 0.33