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:0001480 | HP:0001480 | Freckling | 0 | ABCB6 CL E G H | 10058 | 47 | ORPHA:241 | Dyschromatosis universalis hereditaria | HP:0040282 - Frequent | | | 20 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | ACD CL E G H | 65057 | 25070 | ORPHA:618 | Familial melanoma | HP:0040282 - Frequent | | | 11 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | AP3D1 CL E G H | 8943 | 568 | ORPHA:54 | X-linked recessive ocular albinism | HP:0040282 - Frequent | | | 1 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:618 | Familial melanoma | HP:0040282 - Frequent | | | 184 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040281 - Very frequent | | | 276 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | CDH3 CL E G H | 1001 | 1762 | ORPHA:1573 | Hypotrichosis with juvenile macular degeneration | HP:0040283 - Occasional | | | 87 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | CDK4 CL E G H | 1019 | 1773 | ORPHA:618 | Familial melanoma | HP:0040282 - Frequent | | | 145 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:618 | Familial melanoma | HP:0040282 - Frequent | | | 289 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:618 | Familial melanoma | HP:0040282 - Frequent | | | 1 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 30 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | . | | | 106 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 106 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 54 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | ERCC3 CL E G H | 2071 | 3435 | OMIM:610651 | Xeroderma pigmentosum, complementation group B | . | | | 54 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 158 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:278760 | Xeroderma pigmentosum, complementation group F | | | | 158 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 83 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:600630 | Uv-Sensitive syndrome 1 | . | | | 199 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:614621 | UV-sensitive syndrome 2 | . | | | 55 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | GPR143 CL E G H | 4935 | 20145 | ORPHA:54 | X-linked recessive ocular albinism | HP:0040282 - Frequent | | | 64 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | . | | | 121 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79145 | Dowling-Degos disease | | | | 173 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | MC1R CL E G H | 4157 | 6929 | ORPHA:618 | Familial melanoma | HP:0040282 - Frequent | | | 124 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 124 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | MGMT CL E G H | 4255 | 7059 | ORPHA:618 | Familial melanoma | HP:0040282 - Frequent | | | 3 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | MITF CL E G H | 4286 | 7105 | ORPHA:618 | Familial melanoma | HP:0040282 - Frequent | | | 91 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | MSH6 CL E G H | 2956 | 7329 | OMIM:619097 | MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3 | | | | 2232 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | NBN CL E G H | 4683 | 7652 | ORPHA:647 | Nijmegen breakage syndrome | HP:0040283 - Occasional | | | 706 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040281 - Very frequent | | | 1952 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | | | | 1952 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | | | | 1952 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:193520 | Watson syndrome | | | | 1952 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | POFUT1 CL E G H | 23509 | 14988 | ORPHA:79145 | Dowling-Degos disease | | | | 2 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | POGLUT1 CL E G H | 56983 | 22954 | ORPHA:79145 | Dowling-Degos disease | | | | 6 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | POT1 CL E G H | 25913 | 17284 | ORPHA:618 | Familial melanoma | HP:0040282 - Frequent | | | 23 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:160980 | Carney complex, type 1 | . | | | 134 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | PSENEN CL E G H | 55851 | 30100 | ORPHA:79145 | Dowling-Degos disease | | | | 2 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040281 - Very frequent | | | 291 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040281 - Very frequent | | | 212 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | . | | | 7 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | SPRED1 CL E G H | 161742 | 20249 | ORPHA:137605 | Legius syndrome | | | | 136 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | SPRED1 CL E G H | 161742 | 20249 | OMIM:611431 | Legius syndrome | | | | 136 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | TERF2IP CL E G H | 54386 | 19246 | ORPHA:618 | Familial melanoma | HP:0040282 - Frequent | | | | | |
HP:0001480 | HP:0001480 | Freckling | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:618 | Familial melanoma | HP:0040282 - Frequent | | | 238 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:978 | ADULT syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | . | | | 140 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | HP:0040284 - Very rare | | | 140 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:79431 | Oculocutaneous albinism type 1A | HP:0040282 - Frequent | | | 146 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:79434 | Oculocutaneous albinism type 1B | HP:0040281 - Very frequent | | | 146 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | TYRP1 CL E G H | 7306 | 12450 | ORPHA:79433 | Oculocutaneous albinism type 3 | HP:0040282 - Frequent | | | 62 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | UVSSA CL E G H | 57654 | 29304 | OMIM:614640 | Uv-Sensitive syndrome 3 | . | | | 3 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 34 | | |
HP:0001480 | HP:0001480 | Freckling | 0 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 86 | | |
HP:0001480 | HP:0030052 | Inguinal freckling | 1 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79145 | Dowling-Degos disease | HP:0040282 - Frequent | | | 173 | | |
HP:0001480 | HP:0000997 | Axillary freckling | 1 | MLH1 CL E G H | 4292 | 7127 | OMIM:276300 | Mismatch repair cancer syndrome 1 | | | | 1819 | | |
HP:0001480 | HP:0000997 | Axillary freckling | 1 | MSH6 CL E G H | 2956 | 7329 | OMIM:619097 | MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3 | | | | 2232 | | |
HP:0001480 | HP:0000997 | Axillary freckling | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | HP:0040282 - Frequent | | | 1952 | | |
HP:0001480 | HP:0030052 | Inguinal freckling | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | HP:0040282 - Frequent | | | 1952 | | |
HP:0001480 | HP:0000997 | Axillary freckling | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | | | | 1952 | | |
HP:0001480 | HP:0030052 | Inguinal freckling | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | | | | 1952 | | |
HP:0001480 | HP:0000997 | Axillary freckling | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | |
HP:0001480 | HP:0030052 | Inguinal freckling | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | |
HP:0001480 | HP:0000997 | Axillary freckling | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:193520 | Watson syndrome | . | | | 1952 | | |
HP:0001480 | HP:0030052 | Inguinal freckling | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:193520 | Watson syndrome | | | | 1952 | | |
HP:0001480 | HP:0030052 | Inguinal freckling | 1 | POFUT1 CL E G H | 23509 | 14988 | ORPHA:79145 | Dowling-Degos disease | HP:0040282 - Frequent | | | 2 | | |
HP:0001480 | HP:0030052 | Inguinal freckling | 1 | POGLUT1 CL E G H | 56983 | 22954 | ORPHA:79145 | Dowling-Degos disease | HP:0040282 - Frequent | | | 6 | | |
HP:0001480 | HP:0030052 | Inguinal freckling | 1 | PSENEN CL E G H | 55851 | 30100 | ORPHA:79145 | Dowling-Degos disease | HP:0040282 - Frequent | | | 2 | | |
HP:0001480 | HP:0000997 | Axillary freckling | 1 | SPRED1 CL E G H | 161742 | 20249 | ORPHA:137605 | Legius syndrome | | | | 136 | | |
HP:0001480 | HP:0030052 | Inguinal freckling | 1 | SPRED1 CL E G H | 161742 | 20249 | ORPHA:137605 | Legius syndrome | | | | 136 | | |
HP:0001480 | HP:0000997 | Axillary freckling | 1 | SPRED1 CL E G H | 161742 | 20249 | OMIM:611431 | Legius syndrome | . | | | 136 | | |