Source: ALL
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: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		70 111 31 0.18 7 5.0E-02
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		85 11 32 0.17 1 2.2E-02
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		48 55 24 0.15 5 5.9E-02
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		33 15 22 0.15 1 2.0E-02
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		20 31 18 0.13 6 1.0E-01
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		69 82 21 0.11 11 0.10
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		508 38 64 0.11 7 0.11
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		80 0 21 0.11 0 0
CUI: C0271160
Disease: Cortical cataract
Cortical cataract 		69 0 19 0.10 0 0
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		136 24 24 9.6E-02 2 3.5E-02
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		183 91 28 9.6E-02 2 1.6E-02
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		34 69 14 8.9E-02 1 9.7E-03
CUI: C0022593
Disease: Keratosis
Keratosis 		43 10 14 8.4E-02 1 2.3E-02
CUI: C0016689
Disease: Freckles
Freckles 		45 0 14 8.3E-02 0 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		123 0 20 8.3E-02 0 0
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		363 0 38 8.2E-02 0 0
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		174 1331 23 8.0E-02 2 1.5E-03
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		94 144 17 7.9E-02 4 2.3E-02
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		108 0 18 7.9E-02 0 0
CUI: C0039590
Disease: Testicular Neoplasms
Testicular Neoplasms 		124 0 19 7.9E-02 0 0
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome 		15 0 11 7.8E-02 0 0
CUI: C2717836
Disease: Steroid Sulfatase Deficiency Disease
Steroid Sulfatase Deficiency Disease 		181 5 23 7.8E-02 1 2.6E-02
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		100 43 17 7.7E-02 3 4.0E-02
CUI: C3714644
Disease: Thymus Neoplasms
Thymus Neoplasms 		31 0 12 7.7E-02 0 0
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		270 0 29 7.7E-02 0 0