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: C1857002
Disease: Capitate-hamate fusion
Capitate-hamate fusion
8 0 5 0.38 0 0
CUI: C4023170
Disease: Abnormal oral mucosa morphology
Abnormal oral mucosa morphology
6 0 4 0.33 0 0
CUI: C1863200
Disease: Lacrimal gland hypoplasia
Lacrimal gland hypoplasia
3 0 3 0.30 0 0
CUI: C4021418
Disease: Absent proximal phalanx of thumb
Absent proximal phalanx of thumb
3 0 3 0.30 0 0
CUI: C4021564
Disease: Hypoplasia of the lacrimal punctum
Hypoplasia of the lacrimal punctum
3 0 3 0.30 0 0
CUI: C4021627
Disease: Bilateral triphalangeal thumbs
Bilateral triphalangeal thumbs
3 0 3 0.30 0 0
CUI: C4024215
Disease: Aplasia of the parotid gland
Aplasia of the parotid gland
3 0 3 0.30 0 0
CUI: C4024822
Disease: Lacrimal gland aplasia
Lacrimal gland aplasia
3 0 3 0.30 0 0
CUI: C1850171
Disease: Neonatal short-limb short stature
Neonatal short-limb short stature
12 0 5 0.29 0 0
CUI: C1394030
Disease: Coronal hypospadias
Coronal hypospadias
4 0 3 0.27 0 0
CUI: C1858569
Disease: Absence of Stensen duct
Absence of Stensen duct
4 0 3 0.27 0 0
CUI: C1968574
Disease: Hypoplastic lacrimal duct
Hypoplastic lacrimal duct
4 0 3 0.27 0 0
CUI: C4024345
Disease: Radial deviation of the 3rd finger
Radial deviation of the 3rd finger
4 0 3 0.27 0 0
Lacrimoauriculodentodigital syndrome
5 0 3 0.25 0 0
Congenital duodenal obstruction due to malrotation of intestine
5 0 3 0.25 0 0
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome
11 0 4 0.24 0 0
CUI: C1846474
Disease: Small thenar eminence
Small thenar eminence
6 0 3 0.23 0 0
CUI: C1867060
Disease: Lacrimal Puncta, Absence of
Lacrimal Puncta, Absence of
6 0 3 0.23 0 0
Partial duplication of thumb phalanx
12 0 4 0.22 0 0
CUI: C0010930
Disease: Dacryocystitis
Dacryocystitis
8 0 3 0.20 0 0
CUI: C0341007
Disease: Alveolar ridge abnormality
Alveolar ridge abnormality
2 0 2 0.20 0 0
CUI: C1450010
Disease: Plagiocephaly, Nonsynostotic
Plagiocephaly, Nonsynostotic
2 0 2 0.20 0 0
Cone-shaped epiphyses of phalanges 2 to 5
2 0 2 0.20 0 0
Abnormality of bone marrow cell morphology
15 0 4 0.19 0 0
Simple syndactyly of fingers - first web
9 0 3 0.19 0 0