Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
4 0 2 0.40 0 0
CUI: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5
1 0 1 0.33 0 0
PITUITARY HORMONE DEFICIENCY, COMBINED, 6
1 0 1 0.33 0 0
Unilateral vertebral artery hypoplasia
1 0 1 0.33 0 0
CUI: C3804969
Disease: Dysgnathia
Dysgnathia
1 0 1 0.33 0 0
CUI: C4017128
Disease: SPONDYLOCOSTAL DYSOSTOSIS 4
SPONDYLOCOSTAL DYSOSTOSIS 4
1 0 1 0.33 0 0
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5
5 0 2 0.33 0 0
SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE
1 0 1 0.33 0 0
CUI: C4305151
Disease: Syndromic microphthalmia type 5
Syndromic microphthalmia type 5
1 0 1 0.33 0 0
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
6 0 2 0.29 0 0
CUI: C0266677
Disease: Synotus
Synotus
2 0 1 0.25 0 0
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
7 0 2 0.25 0 0
Klippel Feil syndrome recessive type
2 4 1 0.25 1 0.25
CUI: C3151380
Disease: SCHIZOPHRENIA 15
SCHIZOPHRENIA 15
2 0 1 0.25 0 0
CUI: C0575170
Disease: Cervical kyphosis
Cervical kyphosis
3 0 1 0.20 0 0
CUI: C1864794
Disease: Abnormality of the odontoid process
Abnormality of the odontoid process
3 0 1 0.20 0 0
CUI: C1876185
Disease: Dysgnathia complex
Dysgnathia complex
3 0 1 0.20 0 0
Autosomal dominant spondylocostal dysostosis
3 0 1 0.20 0 0
CUI: C0265242
Disease: Otocephaly
Otocephaly
4 0 1 0.17 0 0
CUI: C0853877
Disease: Fistula of genitourinary tract
Fistula of genitourinary tract
11 0 2 0.17 0 0
CUI: C1833798
Disease: Optic Nerve Aplasia, Bilateral
Optic Nerve Aplasia, Bilateral
4 0 1 0.17 0 0
CUI: C1844753
Disease: Block vertebrae
Block vertebrae
4 0 1 0.17 0 0
Chromosome 17q21.31 Deletion Syndrome
4 0 1 0.17 0 0
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome
4 0 1 0.17 0 0
CUI: C4020963
Disease: Absent nares
Absent nares
4 0 1 0.17 0 0