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 0.25 0 0
CUI: C0795812
Disease: Chromosome 4, trisomy 4q
Chromosome 4, trisomy 4q
1 0 1 0.25 0 0
CUI: C0795868
Disease: Chromosome 18, tetrasomy 18p
Chromosome 18, tetrasomy 18p
1 0 1 0.25 0 0
AMINOPTERIN SYNDROME SINE AMINOPTERIN
1 0 1 0.25 0 0
CUI: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5
1 0 1 0.25 0 0
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder)
1 0 1 0.25 0 0
PITUITARY HORMONE DEFICIENCY, COMBINED, 6
1 0 1 0.25 0 0
CUI: C3804969
Disease: Dysgnathia
Dysgnathia
1 0 1 0.25 0 0
CUI: C4021387
Disease: Abnormality of upper limb joint
Abnormality of upper limb joint
1 0 1 0.25 0 0
CUI: C4022454
Disease: Abnormality of upper limb bone
Abnormality of upper limb bone
1 0 1 0.25 0 0
CUI: C4305151
Disease: Syndromic microphthalmia type 5
Syndromic microphthalmia type 5
1 0 1 0.25 0 0
CUI: C4512053
Disease: 4p16.3 microduplication syndrome
4p16.3 microduplication syndrome
1 0 1 0.25 0 0
Stage 0 Gastric Cancer AJCC v6 and v7
1 0 1 0.25 0 0
CUI: C4707448
Disease: Ring chromosome 2 syndrome
Ring chromosome 2 syndrome
1 0 1 0.25 0 0
CUI: C0265931
Disease: Persistent left superior vena cava
Persistent left superior vena cava
2 0 1 0.20 0 0
CUI: C0266677
Disease: Synotus
Synotus
2 0 1 0.20 0 0
CUI: C0302246
Disease: Hexadactyly
Hexadactyly
2 0 1 0.20 0 0
CUI: C0795805
Disease: Chromosome 2, trisomy 2q
Chromosome 2, trisomy 2q
2 0 1 0.20 0 0
CUI: C1332582
Disease: Primary bone lymphoma
Primary bone lymphoma
2 0 1 0.20 0 0
CUI: C1842464
Disease: Nablus mask-like facial syndrome
Nablus mask-like facial syndrome
2 0 1 0.20 0 0
Hypotrophy of the small hand muscles
2 0 1 0.20 0 0
Plantar Lipomatosis, Unusual Facies, and Developmental Delay
2 0 1 0.20 0 0
CUI: C2674949
Disease: Chromosome 3q29 Deletion Syndrome
Chromosome 3q29 Deletion Syndrome
2 0 1 0.20 0 0
CUI: C2931713
Disease: Chromosome 17 deletion
Chromosome 17 deletion
2 0 1 0.20 0 0
CUI: C3151380
Disease: SCHIZOPHRENIA 15
SCHIZOPHRENIA 15
2 0 1 0.20 0 0