Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		1.000 Biomarker disease CTD_human
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.560 CausalMutation disease CGI
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation disease CGI
CUI: C0025202
Disease: melanoma
melanoma 		0.500 Biomarker disease HPO
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.450 CausalMutation disease CGI
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.450 Biomarker disease HPO
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.300 CausalMutation disease CGI
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		0.120 GeneticVariation disease CLINVAR
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.120 Biomarker disease HPO
CUI: C0015967
Disease: Fever
Fever 		0.110 Biomarker phenotype HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.110 Biomarker disease HPO
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0003862
Disease: Arthralgia
Arthralgia 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0005741
Disease: Blepharitis
Blepharitis 		0.100 Biomarker disease HPO
CUI: C0009763
Disease: Conjunctivitis
Conjunctivitis 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013592
Disease: Ectropion
Ectropion 		0.100 Biomarker disease HPO
CUI: C0014390
Disease: Entropion
Entropion 		0.100 Biomarker disease HPO
CUI: C0015414
Disease: Eye Neoplasms
Eye Neoplasms 		0.100 Biomarker group HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 Biomarker phenotype HPO