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:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 72 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 123 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | EDN3 CL E G H | 1908 | 3178 | OMIM:613265 | Waardenburg syndrome, type 4B | | | | 67 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | EDNRB CL E G H | 1910 | 3180 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 55 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | EDNRB CL E G H | 1910 | 3180 | OMIM:277580 | Waardenburg-Shah syndrome | | | | 55 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | | | | 133 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:3205 | Sturge-Weber syndrome | | | | 7 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:79414 | Woolly hair nevus | | | | 113 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | KIT CL E G H | 3815 | 6342 | OMIM:172800 | Piebald trait | | | | 327 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:2884 | Piebaldism | | | | 327 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | KITLG CL E G H | 4254 | 6343 | OMIM:619947 | | | | | 9 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | KITLG CL E G H | 4254 | 6343 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 9 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | | | | 165 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | | | | 165 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | | | | 124 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | MITF CL E G H | 4286 | 7105 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 91 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | MITF CL E G H | 4286 | 7105 | OMIM:193510 | Waardenburg syndrome, type 2A | | | | 91 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | | | | 121 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | | | | 59 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | | | | 59 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | | | | 59 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | | | | 103 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | | | | 948 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:2969 | Proteus-like syndrome | | | | 948 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | SNAI2 CL E G H | 6591 | 11094 | OMIM:172800 | Piebald trait | | | | 19 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:2884 | Piebaldism | | | | 19 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 19 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | SNAI2 CL E G H | 6591 | 11094 | OMIM:608890 | Waardenburg syndrome, type 2D | | | | 19 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | | | | 61 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 61 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | | | | 61 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:613266 | Waardenburg syndrome, type 4C | | | | 61 | | |
HP:0200064 | HP:0200064 | Asymmetry of iris pigmentation | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 146 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040282 - Frequent | | | 72 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040282 - Frequent | | | 123 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | EDN3 CL E G H | 1908 | 3178 | OMIM:613265 | Waardenburg syndrome, type 4B | . | | | 67 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | EDNRB CL E G H | 1910 | 3180 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 55 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | EDNRB CL E G H | 1910 | 3180 | OMIM:277580 | Waardenburg-Shah syndrome | . | | | 55 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | HP:0040283 - Occasional | | | 133 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | GNAQ CL E G H | 2776 | 4390 | ORPHA:3205 | Sturge-Weber syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | HRAS CL E G H | 3265 | 5173 | ORPHA:79414 | Woolly hair nevus | | | | 113 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | KIT CL E G H | 3815 | 6342 | OMIM:172800 | Piebald trait | . | | | 327 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | KIT CL E G H | 3815 | 6342 | ORPHA:2884 | Piebaldism | HP:0040283 - Occasional | | | 327 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | KITLG CL E G H | 4254 | 6343 | OMIM:619947 | | | | | 9 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | KITLG CL E G H | 4254 | 6343 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 9 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | | | | 165 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | | | | 165 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 124 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | MITF CL E G H | 4286 | 7105 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 91 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | MITF CL E G H | 4286 | 7105 | OMIM:193510 | Waardenburg syndrome, type 2A | . | | | 91 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | HP:0040281 - Very frequent | | | 59 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | . | | | 59 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | . | | | 59 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | | | | 103 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | | | | 948 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:2969 | Proteus-like syndrome | HP:0040282 - Frequent | | | 948 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | SNAI2 CL E G H | 6591 | 11094 | OMIM:172800 | Piebald trait | . | | | 19 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:2884 | Piebaldism | HP:0040283 - Occasional | | | 19 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 19 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | SNAI2 CL E G H | 6591 | 11094 | OMIM:608890 | Waardenburg syndrome, type 2D | . | | | 19 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | SOX10 CL E G H | 6663 | 11190 | ORPHA:163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | HP:0040281 - Very frequent | | | 61 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | SOX10 CL E G H | 6663 | 11190 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 61 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | . | | | 61 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:613266 | Waardenburg syndrome, type 4C | . | | | 61 | | |
HP:0200064 | HP:0001100 | Heterochromia iridis | 1 | TYR CL E G H | 7299 | 12442 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 146 | | |
HP:0200064 | HP:0007818 | Central heterochromia | 2 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0200064 | HP:0007818 | Central heterochromia | 2 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0200064 | HP:0009781 | Lester's sign | 2 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0200064 | HP:0009781 | Lester's sign | 2 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | . | | | 165 | | |
HP:0200064 | HP:0007818 | Central heterochromia | 2 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0200064 | HP:0007818 | Central heterochromia | 2 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | . | | | 103 | | |
HP:0200064 | HP:0007818 | Central heterochromia | 2 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0200064 | HP:0007818 | Central heterochromia | 2 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |