Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003254 | HP:0003254 | Abnormality of DNA repair | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0003254 | HP:0003254 | Abnormality of DNA repair | 0 | DDB2 CL E G H | 1643 | 2718 | OMIM:278740 | Xeroderma pigmentosum, complementation group E | | | | 30 | | |
HP:0003254 | HP:0003254 | Abnormality of DNA repair | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0003254 | HP:0003254 | Abnormality of DNA repair | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:278730 | Xeroderma pigmentosum, complementation group D | | | | 106 | | |
HP:0003254 | HP:0003254 | Abnormality of DNA repair | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0003254 | HP:0003254 | Abnormality of DNA repair | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:278760 | Xeroderma pigmentosum, complementation group F | | | | 158 | | |
HP:0003254 | HP:0003254 | Abnormality of DNA repair | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:610965 | XFE progeroid syndrome | | | | 158 | | |
HP:0003254 | HP:0003254 | Abnormality of DNA repair | 0 | ERCC5 CL E G H | 2073 | 3437 | OMIM:278780 | Xeroderma pigmentosum, complementation group G | | | | 83 | | |
HP:0003254 | HP:0003254 | Abnormality of DNA repair | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:278800 | De Sanctis-Cacchione syndrome | | | | 199 | | |
HP:0003254 | HP:0003254 | Abnormality of DNA repair | 0 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | | | | 340 | | |
HP:0003254 | HP:0003254 | Abnormality of DNA repair | 0 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | | | | 410 | | |
HP:0003254 | HP:0003254 | Abnormality of DNA repair | 0 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0003254 | HP:0003254 | Abnormality of DNA repair | 0 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | | | | 73 | | |
HP:0003254 | HP:0003254 | Abnormality of DNA repair | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0003254 | HP:0003254 | Abnormality of DNA repair | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0003254 | HP:0003254 | Abnormality of DNA repair | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0003254 | HP:0003254 | Abnormality of DNA repair | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0003254 | HP:0003254 | Abnormality of DNA repair | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0003254 | HP:0003254 | Abnormality of DNA repair | 0 | XPA CL E G H | 7507 | 12814 | OMIM:278700 | Xeroderma pigmentosum, complementation group A | | | | 34 | | |
HP:0003254 | HP:0003254 | Abnormality of DNA repair | 0 | XPC CL E G H | 7508 | 12816 | OMIM:278720 | Xeroderma pigmentosum, complementation group C | | | | 86 | | |
HP:0003254 | HP:0410166 | Defective interstrand cross-link repair | 1 | CL E G H | | | | | | | | | | |
HP:0003254 | HP:0032189 | Cellular hypersensitivity to diepoxybutane | 1 | CL E G H | | | | | | | | | | |
HP:0003254 | HP:0032188 | Cellular hypersensitivity to mitomycin C | 1 | CL E G H | | | | | | | | | | |
HP:0003254 | HP:0003079 | Defective DNA repair after ultraviolet radiation damage | 1 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0003254 | HP:0003079 | Defective DNA repair after ultraviolet radiation damage | 1 | DDB2 CL E G H | 1643 | 2718 | OMIM:278740 | Xeroderma pigmentosum, complementation group E | . | | | 30 | | |
HP:0003254 | HP:0003079 | Defective DNA repair after ultraviolet radiation damage | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0003254 | HP:0003079 | Defective DNA repair after ultraviolet radiation damage | 1 | ERCC2 CL E G H | 2068 | 3434 | OMIM:278730 | Xeroderma pigmentosum, complementation group D | . | | | 106 | | |
HP:0003254 | HP:0003079 | Defective DNA repair after ultraviolet radiation damage | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0003254 | HP:0003079 | Defective DNA repair after ultraviolet radiation damage | 1 | ERCC4 CL E G H | 2072 | 3436 | OMIM:278760 | Xeroderma pigmentosum, complementation group F | . | | | 158 | | |
HP:0003254 | HP:0003213 | Deficient excision of UV-induced pyrimidine dimers in DNA | 1 | ERCC4 CL E G H | 2072 | 3436 | OMIM:278760 | Xeroderma pigmentosum, complementation group F | | | | 158 | | |
HP:0003254 | HP:0003079 | Defective DNA repair after ultraviolet radiation damage | 1 | ERCC4 CL E G H | 2072 | 3436 | OMIM:610965 | XFE progeroid syndrome | | | | 158 | | |
HP:0003254 | HP:0003079 | Defective DNA repair after ultraviolet radiation damage | 1 | ERCC5 CL E G H | 2073 | 3437 | OMIM:278780 | Xeroderma pigmentosum, complementation group G | . | | | 83 | | |
HP:0003254 | HP:0003079 | Defective DNA repair after ultraviolet radiation damage | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:278800 | De Sanctis-Cacchione syndrome | . | | | 199 | | |
HP:0003254 | HP:0003213 | Deficient excision of UV-induced pyrimidine dimers in DNA | 1 | FANCA CL E G H | 2175 | 3582 | OMIM:227650 | Fanconi anemia | . | | | 340 | | |
HP:0003254 | HP:0003213 | Deficient excision of UV-induced pyrimidine dimers in DNA | 1 | FANCC CL E G H | 2176 | 3584 | OMIM:227645 | Fanconi anemia, complementation group C | . | | | 410 | | |
HP:0003254 | HP:0003213 | Deficient excision of UV-induced pyrimidine dimers in DNA | 1 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | . | | | 147 | | |
HP:0003254 | HP:0003213 | Deficient excision of UV-induced pyrimidine dimers in DNA | 1 | FANCE CL E G H | 2178 | 3586 | OMIM:600901 | Fanconi anemia, complementation group E | . | | | 73 | | |
HP:0003254 | HP:0003079 | Defective DNA repair after ultraviolet radiation damage | 1 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0003254 | HP:0003079 | Defective DNA repair after ultraviolet radiation damage | 1 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0003254 | HP:0003079 | Defective DNA repair after ultraviolet radiation damage | 1 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0003254 | HP:0003079 | Defective DNA repair after ultraviolet radiation damage | 1 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0003254 | HP:0003079 | Defective DNA repair after ultraviolet radiation damage | 1 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0003254 | HP:0003079 | Defective DNA repair after ultraviolet radiation damage | 1 | XPA CL E G H | 7507 | 12814 | OMIM:278700 | Xeroderma pigmentosum, complementation group A | . | | | 34 | | |
HP:0003254 | HP:0003079 | Defective DNA repair after ultraviolet radiation damage | 1 | XPC CL E G H | 7508 | 12816 | OMIM:278720 | Xeroderma pigmentosum, complementation group C | . | | | 86 | | |