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: C2931277
Disease: Pena Shokeir syndrome Type 2
Pena Shokeir syndrome Type 2
3 0 3 1.00 0 0
Cerebrooculofacioskeletal Syndrome 1
7 0 3 0.43 0 0
CEREBROOCULOFACIOSKELETAL SYNDROME 4
1 0 1 0.33 0 0
Cerebrooculofacioskeletal Syndrome 2
1 0 1 0.33 0 0
CUI: C0277827
Disease: Early fontanel closure
Early fontanel closure
2 0 1 0.25 0 0
Cerebrooculofacioskeletal Syndrome 3
2 0 1 0.25 0 0
Xeroderma Pigmentosum, Type G-Cockayne Syndrome
2 0 1 0.25 0 0
Mixed phenotype acute leukemia T/myeloid
2 0 1 0.25 0 0
Abnormality of amino acid metabolism
8 0 2 0.22 0 0
CUI: C4023759
Disease: Flat nasal alae
Flat nasal alae
8 0 2 0.22 0 0
CUI: C1968565
Disease: Numerous pigmented freckles
Numerous pigmented freckles
9 0 2 0.20 0 0
CUI: C1970416
Disease: XFE Progeroid Syndrome
XFE Progeroid Syndrome
3 0 1 0.20 0 0
Metachromatic leukodystrophy variant
3 0 1 0.20 0 0
Xeroderma pigmentosum and Cockayne syndrome complex
10 0 2 0.18 0 0
Thyroid Hormone Metabolism, Abnormal
4 0 1 0.17 0 0
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy
4 0 1 0.17 0 0
Non-small cell lung cancer stage IIIA
12 0 2 0.15 0 0
Defective DNA repair after ultraviolet radiation damage
12 0 2 0.15 0 0
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G
20 0 3 0.15 0 0
CUI: C1720811
Disease: Tumor of Rete Testis
Tumor of Rete Testis
6 0 1 0.12 0 0
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome
15 0 2 0.12 0 0
CUI: C4022736
Disease: Impaired social reciprocity
Impaired social reciprocity
6 0 1 0.12 0 0
CUI: C4023792
Disease: Paraplegia/paraparesis
Paraplegia/paraparesis
6 0 1 0.12 0 0
CUI: C4024892
Disease: Congenital exfoliative erythroderma
Congenital exfoliative erythroderma
6 0 1 0.12 0 0
Hypoplasia of mandible relative to maxilla
6 0 1 0.12 0 0