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: C1844554
Disease: Absent fingernail
Absent fingernail
19 0 9 0.43 0 0
Chromosome 22q11.2 Deletion Syndrome, Distal
3 0 3 0.27 0 0
CUI: C4281601
Disease: Foot oligodactyly
Foot oligodactyly
9 0 4 0.25 0 0
CUI: C0152415
Disease: Ankyloglossia
Ankyloglossia
19 0 5 0.20 0 0
CUI: C0546968
Disease: Fistula of branchial cleft
Fistula of branchial cleft
8 0 3 0.19 0 0
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease
2 0 2 0.18 0 0
CUI: C0238115
Disease: Boerhaave syndrome
Boerhaave syndrome
2 0 2 0.18 0 0
CUI: C1859309
Disease: Syndactyly Cenani Lenz type
Syndactyly Cenani Lenz type
2 0 2 0.18 0 0
CUI: C4021808
Disease: Abnormality of earlobe
Abnormality of earlobe
9 0 3 0.18 0 0
CUI: C1275114
Disease: Epidermolysis Bullosa Pruriginosa
Epidermolysis Bullosa Pruriginosa
3 0 2 0.17 0 0
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant
3 0 2 0.17 0 0
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
3 0 2 0.17 0 0
CUI: C0271321
Disease: Madarosis of eyelid
Madarosis of eyelid
4 0 2 0.15 0 0
CUI: C4316878
Disease: Loss of eyelashes
Loss of eyelashes
4 0 2 0.15 0 0
Philadelphia chromosome negative chronic myelogenous leukemia
7 0 2 0.12 0 0
CUI: C1969236
Disease: Mitten deformity
Mitten deformity
7 0 2 0.12 0 0
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris
10 0 2 0.11 0 0
CUI: C0231679
Disease: Ulnar deviation of the fingers
Ulnar deviation of the fingers
31 0 4 0.11 0 0
CUI: C1835796
Disease: Crossed fused renal ectopia
Crossed fused renal ectopia
10 0 2 0.11 0 0
Childhood Chronic Myelogenous Leukemia, BCR-ABL1 Positive
12 0 2 9.5E-02 0 0
CUI: C0031925
Disease: Pilonidal Cyst
Pilonidal Cyst
1 0 1 9.1E-02 0 0
CUI: C0034882
Disease: Rectal Diseases
Rectal Diseases
1 0 1 9.1E-02 0 0
CUI: C0040422
Disease: Tonsillar Neoplasms
Tonsillar Neoplasms
1 0 1 9.1E-02 0 0
CUI: C0153618
Disease: Malignant tumor of renal pelvis
Malignant tumor of renal pelvis
1 0 1 9.1E-02 0 0
CUI: C0155563
Disease: Rheumatic mitral regurgitation
Rheumatic mitral regurgitation
1 0 1 9.1E-02 0 0