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: C4021377
Disease: Prominent crus of helix
Prominent crus of helix
3 1 3 1.00 1 3.4E-02
CUI: C1849227
Disease: Cleft of chin
Cleft of chin
2 0 2 0.67 0 0
CUI: C1863382
Disease: Absent first metatarsal
Absent first metatarsal
2 0 2 0.67 0 0
Partial duplication of the distal phalanx of the 3rd finger
2 0 2 0.67 0 0
Partial duplication of the distal phalanx of the 2nd finger
2 0 2 0.67 0 0
CUI: C2676443
Disease: Proximal radio-ulnar synostosis
Proximal radio-ulnar synostosis
5 0 3 0.60 0 0
CUI: C0027719
Disease: Nephrosclerosis
Nephrosclerosis
3 0 2 0.50 0 0
Lacrimoauriculodentodigital syndrome
3 32 2 0.50 9 0.17
CUI: C1863200
Disease: Lacrimal gland hypoplasia
Lacrimal gland hypoplasia
3 0 2 0.50 0 0
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
3 34 2 0.50 9 0.17
CUI: C4021418
Disease: Absent proximal phalanx of thumb
Absent proximal phalanx of thumb
3 0 2 0.50 0 0
CUI: C4021564
Disease: Hypoplasia of the lacrimal punctum
Hypoplasia of the lacrimal punctum
3 0 2 0.50 0 0
CUI: C4021627
Disease: Bilateral triphalangeal thumbs
Bilateral triphalangeal thumbs
3 0 2 0.50 0 0
CUI: C4024215
Disease: Aplasia of the parotid gland
Aplasia of the parotid gland
3 0 2 0.50 0 0
CUI: C4024822
Disease: Lacrimal gland aplasia
Lacrimal gland aplasia
3 0 2 0.50 0 0
CUI: C1394030
Disease: Coronal hypospadias
Coronal hypospadias
4 0 2 0.40 0 0
CUI: C1561989
Disease: Limbal stem cell deficiency
Limbal stem cell deficiency
4 0 2 0.40 0 0
CUI: C1858569
Disease: Absence of Stensen duct
Absence of Stensen duct
4 0 2 0.40 0 0
CUI: C1968574
Disease: Hypoplastic lacrimal duct
Hypoplastic lacrimal duct
4 0 2 0.40 0 0
CUI: C4021723
Disease: Short middle phalanx of toe
Short middle phalanx of toe
4 0 2 0.40 0 0
CUI: C4024345
Disease: Radial deviation of the 3rd finger
Radial deviation of the 3rd finger
4 0 2 0.40 0 0
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1 9 1 0.33 1 2.7E-02
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
1 14 1 0.33 8 0.23
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
1 0 1 0.33 0 0
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
1 21 1 0.33 1 2.0E-02