Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Complete atrioventricular septal defect
1 0 1 0.50 0 0
CUI: C0795812
Disease: Chromosome 4, trisomy 4q
Chromosome 4, trisomy 4q
1 0 1 0.50 0 0
CUI: C0795868
Disease: Chromosome 18, tetrasomy 18p
Chromosome 18, tetrasomy 18p
1 0 1 0.50 0 0
AMINOPTERIN SYNDROME SINE AMINOPTERIN
1 0 1 0.50 0 0
CUI: C1866805
Disease: Unilateral narrow palpebral fissure
Unilateral narrow palpebral fissure
1 0 1 0.50 0 0
CUI: C3276032
Disease: Hypoplastic areola
Hypoplastic areola
1 0 1 0.50 0 0
CUI: C4022453
Disease: Abnormal morphology of ulna
Abnormal morphology of ulna
1 1 1 0.50 1 0.25
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
1 6 1 0.50 2 0.25
CUI: C4512053
Disease: 4p16.3 microduplication syndrome
4p16.3 microduplication syndrome
1 0 1 0.50 0 0
Stage 0 Gastric Cancer AJCC v6 and v7
1 0 1 0.50 0 0
CUI: C4707448
Disease: Ring chromosome 2 syndrome
Ring chromosome 2 syndrome
1 0 1 0.50 0 0
CUI: C0265931
Disease: Persistent left superior vena cava
Persistent left superior vena cava
2 0 1 0.33 0 0
CUI: C0302246
Disease: Hexadactyly
Hexadactyly
2 0 1 0.33 0 0
CUI: C0795805
Disease: Chromosome 2, trisomy 2q
Chromosome 2, trisomy 2q
2 0 1 0.33 0 0
CUI: C1332582
Disease: Primary bone lymphoma
Primary bone lymphoma
2 0 1 0.33 0 0
CUI: C1842464
Disease: Nablus mask-like facial syndrome
Nablus mask-like facial syndrome
2 0 1 0.33 0 0
CUI: C2674949
Disease: Chromosome 3q29 Deletion Syndrome
Chromosome 3q29 Deletion Syndrome
2 0 1 0.33 0 0
CUI: C0220730
Disease: Fryns syndrome
Fryns syndrome
3 0 1 0.25 0 0
CUI: C0685201
Disease: Hemangioma of spleen
Hemangioma of spleen
3 0 1 0.25 0 0
CUI: C0740409
Disease: Psychotic behaviour
Psychotic behaviour
3 0 1 0.25 0 0
CUI: C0795822
Disease: Recombinant chromosome 8 syndrome
Recombinant chromosome 8 syndrome
3 0 1 0.25 0 0
CUI: C0795855
Disease: Ring chromosome 15 syndrome
Ring chromosome 15 syndrome
3 0 1 0.25 0 0
CUI: C0854893
Disease: Angiosarcoma non-metastatic
Angiosarcoma non-metastatic
3 0 1 0.25 0 0
CUI: C4266451
Disease: Fetal abnormality
Fetal abnormality
3 0 1 0.25 0 0
CUI: C0221215
Disease: Common atrioventricular canal
Common atrioventricular canal
4 0 1 0.20 0 0