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:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | ACVRL1 CL E G H | 94 | 175 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 178 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | | | | 178 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | ANO10 CL E G H | 55129 | 25519 | ORPHA:284289 | Adult-onset autosomal recessive cerebellar ataxia | | | | 64 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | CTSA CL E G H | 5476 | 9251 | OMIM:256540 | Galactosialidosis | | | | 51 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | | | | 30 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 186 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | | | | 186 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | | | | 106 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | | | | 54 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | | | | 158 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | | | | 83 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | | | | 43 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | GDF2 CL E G H | 2658 | 4217 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 8 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | | | | 291 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:3205 | Sturge-Weber syndrome | | | | 7 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | MANBA CL E G H | 4126 | 6831 | OMIM:248510 | MANNOSIDOSIS, BETA A, LYSOSOMAL | | | | 55 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | MASP1 CL E G H | 5648 | 6901 | OMIM:257920 | 3mc syndrome 1 | | | | 21 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | PCNA CL E G H | 5111 | 8729 | OMIM:615919 | Ataxia-Telangiectasia-Like disorder 2 | | | | 1 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | | | | 98 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | RNF168 CL E G H | 165918 | 26661 | ORPHA:420741 | RIDDLE syndrome | | | | 7 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | | | | 162 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 504 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | | | | 34 | | |
HP:0008054 | HP:0008054 | Abnormal morphology of the conjunctival vasculature | 0 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | | | | 86 | | |
HP:0008054 | HP:0007721 | Saccular conjunctival dilatations | 1 | CL E G H | | | | | | | | | | |
HP:0008054 | HP:0000524 | Conjunctival telangiectasia | 1 | ACVRL1 CL E G H | 94 | 175 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 178 | | |
HP:0008054 | HP:0000524 | Conjunctival telangiectasia | 1 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | . | | | 178 | | |
HP:0008054 | HP:0000503 | Tortuosity of conjunctival vessels | 1 | ANO10 CL E G H | 55129 | 25519 | ORPHA:284289 | Adult-onset autosomal recessive cerebellar ataxia | HP:0040283 - Occasional | | | 64 | | |
HP:0008054 | HP:0000524 | Conjunctival telangiectasia | 1 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | . | | | 3267 | | |
HP:0008054 | HP:0000524 | Conjunctival telangiectasia | 1 | CTSA CL E G H | 5476 | 9251 | OMIM:256540 | Galactosialidosis | . | | | 51 | | |
HP:0008054 | HP:0000524 | Conjunctival telangiectasia | 1 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 30 | | |
HP:0008054 | HP:0000524 | Conjunctival telangiectasia | 1 | ENG CL E G H | 2022 | 3349 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 186 | | |
HP:0008054 | HP:0000524 | Conjunctival telangiectasia | 1 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | . | | | 186 | | |
HP:0008054 | HP:0000524 | Conjunctival telangiectasia | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 106 | | |
HP:0008054 | HP:0000524 | Conjunctival telangiectasia | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 54 | | |
HP:0008054 | HP:0000524 | Conjunctival telangiectasia | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 158 | | |
HP:0008054 | HP:0000524 | Conjunctival telangiectasia | 1 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 83 | | |
HP:0008054 | HP:0000503 | Tortuosity of conjunctival vessels | 1 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | . | | | 43 | | |
HP:0008054 | HP:0000524 | Conjunctival telangiectasia | 1 | GDF2 CL E G H | 2658 | 4217 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 8 | | |
HP:0008054 | HP:0000524 | Conjunctival telangiectasia | 1 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040281 - Very frequent | | | 291 | | |
HP:0008054 | HP:0000524 | Conjunctival telangiectasia | 1 | GNAQ CL E G H | 2776 | 4390 | ORPHA:3205 | Sturge-Weber syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0008054 | HP:0000524 | Conjunctival telangiectasia | 1 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0008054 | HP:0000503 | Tortuosity of conjunctival vessels | 1 | MANBA CL E G H | 4126 | 6831 | OMIM:248510 | MANNOSIDOSIS, BETA A, LYSOSOMAL | . | | | 55 | | |
HP:0008054 | HP:0000524 | Conjunctival telangiectasia | 1 | MASP1 CL E G H | 5648 | 6901 | OMIM:257920 | 3mc syndrome 1 | . | | | 21 | | |
HP:0008054 | HP:0000524 | Conjunctival telangiectasia | 1 | PCNA CL E G H | 5111 | 8729 | OMIM:615919 | Ataxia-Telangiectasia-Like disorder 2 | . | | | 1 | | |
HP:0008054 | HP:0000524 | Conjunctival telangiectasia | 1 | PEX6 CL E G H | 5190 | 8859 | ORPHA:95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0008054 | HP:0000524 | Conjunctival telangiectasia | 1 | RNF168 CL E G H | 165918 | 26661 | ORPHA:420741 | RIDDLE syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0008054 | HP:0000524 | Conjunctival telangiectasia | 1 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | HP:0040283 - Occasional | | | 162 | | |
HP:0008054 | HP:0000524 | Conjunctival telangiectasia | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 504 | | |
HP:0008054 | HP:0000524 | Conjunctival telangiectasia | 1 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 34 | | |
HP:0008054 | HP:0000524 | Conjunctival telangiectasia | 1 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 86 | | |