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: C1837640
Disease: Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 28
1 0 1 1.00 0 0
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
1 0 1 1.00 0 0
CUI: C2931488
Disease: Zlotogora-Ogur syndrome
Zlotogora-Ogur syndrome
5 0 1 0.20 0 0
CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT
12 0 1 8.3E-02 0 0
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy
14 0 1 7.1E-02 0 0
CUI: C1858723
Disease: Poikiloderma with Neutropenia
Poikiloderma with Neutropenia
25 0 1 4.0E-02 0 0
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA
30 0 1 3.3E-02 0 0
CUI: C0221270
Disease: Acanthosis
Acanthosis
37 0 1 2.7E-02 0 0
CUI: C0266453
Disease: Exencephaly
Exencephaly
47 0 1 2.1E-02 0 0
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
58 0 1 1.7E-02 0 0
CUI: C0040411
Disease: Tongue Neoplasms
Tongue Neoplasms
62 0 1 1.6E-02 0 0
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
72 0 1 1.4E-02 0 0
CUI: C4275242
Disease: Sudden sensorineural hearing loss
Sudden sensorineural hearing loss
72 0 1 1.4E-02 0 0
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium
81 0 1 1.2E-02 0 0
CUI: C0153382
Disease: Malignant neoplasm of oropharynx
Malignant neoplasm of oropharynx
83 0 1 1.2E-02 0 0
CUI: C4553962
Disease: Hyperkeratosis, CTCAE
Hyperkeratosis, CTCAE
87 0 1 1.1E-02 0 0
CUI: C1368404
Disease: Hypopharyngeal Carcinoma
Hypopharyngeal Carcinoma
103 0 1 9.7E-03 0 0
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
113 25 1 8.8E-03 2 8.0E-02
CUI: C2349952
Disease: Oropharyngeal Carcinoma
Oropharyngeal Carcinoma
115 0 1 8.7E-03 0 0
CUI: C0026640
Disease: Mouth Neoplasms
Mouth Neoplasms
140 0 1 7.1E-03 0 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity
147 0 1 6.8E-03 0 0
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer
151 0 1 6.6E-03 0 0
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
163 0 1 6.1E-03 0 0
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis
176 0 1 5.7E-03 0 0
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
179 0 1 5.6E-03 0 0