Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Malignant neoplasm of ureteric orifice
1 0 1 0.20 0 0
CUI: C1389473
Disease: Pelvic hypoplasia
Pelvic hypoplasia
1 0 1 0.20 0 0
CUI: C1850040
Disease: Pelviscapular dysplasia
Pelviscapular dysplasia
1 0 1 0.20 0 0
Anterior rounding of vertebral bodies
1 0 1 0.20 0 0
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder)
1 0 1 0.20 0 0
Abnormality of the joint spaces of the elbow
1 0 1 0.20 0 0
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1
2 0 1 0.17 0 0
CUI: C0265931
Disease: Persistent left superior vena cava
Persistent left superior vena cava
2 0 1 0.17 0 0
CUI: C1419610
Disease: RP23 gene
RP23 gene
2 0 1 0.17 0 0
CUI: C1839463
Disease: TARP syndrome
TARP syndrome
2 0 1 0.17 0 0
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
2 0 1 0.17 0 0
CUI: C1850044
Disease: Prominent protruding coccyx
Prominent protruding coccyx
2 0 1 0.17 0 0
Absent proximal finger flexion creases
2 0 1 0.17 0 0
CUI: C1858545
Disease: Facial capillary hemangioma
Facial capillary hemangioma
2 0 1 0.17 0 0
CUI: C1859477
Disease: Hypoplasia of proximal radius
Hypoplasia of proximal radius
2 0 1 0.17 0 0
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis
2 0 1 0.17 0 0
CUI: C2931426
Disease: Orofaciodigital syndrome type1
Orofaciodigital syndrome type1
2 0 1 0.17 0 0
CUI: C4021555
Disease: Clinodactyly of the 3rd toe
Clinodactyly of the 3rd toe
2 1 1 0.17 1 1.00
CUI: C4025688
Disease: Abnormality of the skull base
Abnormality of the skull base
2 0 1 0.17 0 0
CUI: C4025716
Disease: Abnormality of the duodenum
Abnormality of the duodenum
2 0 1 0.17 0 0
CUI: C4025891
Disease: Ambiguous genitalia, female
Ambiguous genitalia, female
10 0 2 0.15 0 0
CUI: C0241438
Disease: Tongue nodules
Tongue nodules
11 0 2 0.14 0 0
CUI: C1865597
Disease: Hypoplastic nasal bridge
Hypoplastic nasal bridge
3 0 1 0.14 0 0
CUI: C1969178
Disease: Mesomelic leg shortening
Mesomelic leg shortening
3 0 1 0.14 0 0
CUI: C2931015
Disease: Dandy Walker variant
Dandy Walker variant
3 0 1 0.14 0 0