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: C1837203
Disease: WAARDENBURG SYNDROME, TYPE IID
WAARDENBURG SYNDROME, TYPE IID
1 0 1 0.25 0 0
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1
16 46 4 0.25 2 4.1E-02
CUI: C1852510
Disease: Craniofacial deafness hand syndrome
Craniofacial deafness hand syndrome
1 0 1 0.25 0 0
CUI: C1836737
Disease: White eyebrow
White eyebrow
7 0 2 0.22 0 0
CUI: C0265681
Disease: Supernumerary vertebra
Supernumerary vertebra
2 0 1 0.20 0 0
CUI: C1836736
Disease: White eyelashes
White eyelashes
8 0 2 0.20 0 0
CUI: C1841990
Disease: Aplasia of the vagina
Aplasia of the vagina
2 0 1 0.20 0 0
Absent pigmentation of the ventral chest
2 0 1 0.20 0 0
Autosomal dominant contiguous gene syndrome
2 0 1 0.20 0 0
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2
9 0 2 0.18 0 0
Malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation
3 0 1 0.17 0 0
CUI: C4316813
Disease: Dystopia canthorum
Dystopia canthorum
3 0 1 0.17 0 0
CUI: C0344312
Disease: White forelock
White forelock
12 0 2 0.14 0 0
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome
21 0 3 0.14 0 0
Congenital musculoskeletal anomalies
14 0 2 0.12 0 0
CUI: C0344511
Disease: Atresia of nasolacrimal duct
Atresia of nasolacrimal duct
5 0 1 0.12 0 0
CUI: C1845027
Disease: Spina Bifida, X-Linked
Spina Bifida, X-Linked
5 0 1 0.12 0 0
CUI: C1866559
Disease: Spina Bifida, Folate-Sensitive
Spina Bifida, Folate-Sensitive
5 0 1 0.12 0 0
CUI: C4264447
Disease: Poorly cohesive carcinoma
Poorly cohesive carcinoma
5 0 1 0.12 0 0
CUI: C1845026
Disease: Neural tube defects X-linked
Neural tube defects X-linked
6 0 1 0.11 0 0
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis
17 0 2 0.11 0 0
CUI: C0582591
Disease: Processing speed
Processing speed
7 0 1 1.0E-01 0 0
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA
7 0 1 1.0E-01 0 0
CUI: C1860344
Disease: Hypoplastic iris stroma
Hypoplastic iris stroma
7 0 1 1.0E-01 0 0
Fusion-Positive Alveolar Rhabdomyosarcoma
7 0 1 1.0E-01 0 0