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:0007730 | HP:0007730 | Iris hypopigmentation | 0 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 530 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | AP3D1 CL E G H | 8943 | 568 | ORPHA:1000 | Ocular albinism with late-onset sensorineural deafness | | | | 1 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | AP3D1 CL E G H | 8943 | 568 | ORPHA:54 | X-linked recessive ocular albinism | HP:0040281 - Very frequent | | | 1 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | ARSG CL E G H | 22901 | 24102 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | ATP10A CL E G H | 57194 | 13542 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040282 - Frequent | | | 4 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | BEST1 CL E G H | 7439 | 12703 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | HP:0040282 - Frequent | | | 182 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | BLOC1S3 CL E G H | 388552 | 20914 | OMIM:614077 | Hermansky-Pudlak syndrome 8 | | | | 42 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | BLOC1S5 CL E G H | 63915 | 18561 | OMIM:619172 | HERMANSKY-PUDLAK SYNDROME 11; HPS11 | | | | | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | BLOC1S6 CL E G H | 26258 | 8549 | OMIM:614171 | Hermansky-Pudlak syndrome 9 | | | | 35 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | | | | 3 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 636 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | CEP78 CL E G H | 84131 | 25740 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | 9 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | CIB2 CL E G H | 10518 | 24579 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 15 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | 60 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | DTNBP1 CL E G H | 84062 | 17328 | OMIM:614076 | Hermansky-Pudlak syndrome 7 | | | | 46 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | ESPN CL E G H | 83715 | 13281 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 33 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | | | | 10 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | GPR143 CL E G H | 4935 | 20145 | OMIM:300500 | Albinism, ocular, type I | | | | 64 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | GPR143 CL E G H | 4935 | 20145 | ORPHA:54 | X-linked recessive ocular albinism | HP:0040281 - Very frequent | | | 64 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | HARS1 CL E G H | 3035 | 4816 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | | | | 121 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | HPS4 CL E G H | 89781 | 15844 | OMIM:614073 | Hermansky-Pudlak syndrome 4 | | | | 123 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | HPS5 CL E G H | 11234 | 17022 | OMIM:614074 | Hermansky-Pudlak syndrome 5 | | | | 105 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | HPS6 CL E G H | 79803 | 18817 | OMIM:614075 | Hermansky-Pudlak syndrome 6 | | | | 45 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | | | | 345 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | HP:0040282 - Frequent | | | 4 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | HP:0040282 - Frequent | | | 120 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | | | | 1 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:352723 | Attenuated Chédiak-Higashi syndrome | | | | 239 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040282 - Frequent | | | 239 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | . | | | 239 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040284 - Very rare | | | 63 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040284 - Very rare | | | 63 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 63 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 124 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | MLPH CL E G H | 79083 | 29643 | ORPHA:79478 | Griscelli syndrome type 3 | HP:0040283 - Occasional | | | 7 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | MYO5A CL E G H | 4644 | 7602 | ORPHA:79476 | Griscelli syndrome type 1 | HP:0040281 - Very frequent | | | 35 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | MYO5A CL E G H | 4644 | 7602 | ORPHA:79478 | Griscelli syndrome type 3 | HP:0040283 - Occasional | | | 35 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 516 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 516 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040284 - Very rare | | | | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040284 - Very rare | | | | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 121 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040284 - Very rare | | | 121 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 121 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | PCDH15 CL E G H | 65217 | 14674 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 352 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | PDZD7 CL E G H | 79955 | 26257 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 40 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:137600 | ANTERIOR SEGMENT DYSGENESIS 4; ASGD4 | | | | 51 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | | | | 148 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | HP:0040282 - Frequent | | | 159 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | RAB27A CL E G H | 5873 | 9766 | ORPHA:79477 | Griscelli syndrome type 2 | HP:0040283 - Occasional | | | 67 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | | | | 16 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | | | | 150 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | SLC45A2 CL E G H | 51151 | 16472 | ORPHA:79435 | Oculocutaneous albinism type 4 | HP:0040282 - Frequent | | | 42 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040282 - Frequent | | | 37 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040284 - Very rare | | | 37 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040284 - Very rare | | | 37 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 37 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 37 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | | | | 61 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | | | | 4 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | TYR CL E G H | 7299 | 12442 | OMIM:203100 | Albinism, oculocutaneous, type IA | | | | 146 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:79431 | Oculocutaneous albinism type 1A | HP:0040281 - Very frequent | | | 146 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:79434 | Oculocutaneous albinism type 1B | HP:0040281 - Very frequent | | | 146 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | TYRP1 CL E G H | 7306 | 12450 | ORPHA:79433 | Oculocutaneous albinism type 3 | HP:0040282 - Frequent | | | 62 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411511 | Angelman syndrome due to a point mutation | HP:0040282 - Frequent | | | 278 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040282 - Frequent | | | 278 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 278 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98795 | Angelman syndrome due to paternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 278 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | USH1C CL E G H | 10083 | 12597 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 173 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | USH1G CL E G H | 124590 | 16356 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 78 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 777 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | WHRN CL E G H | 25861 | 16361 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 155 | | |
HP:0007730 | HP:0007730 | Iris hypopigmentation | 0 | XYLT2 CL E G H | 64132 | 15517 | ORPHA:85194 | Spondylo-ocular syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | AP3D1 CL E G H | 8943 | 568 | ORPHA:1000 | Ocular albinism with late-onset sensorineural deafness | HP:0040281 - Very frequent | | | 1 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | AP3D1 CL E G H | 8943 | 568 | ORPHA:54 | X-linked recessive ocular albinism | HP:0040281 - Very frequent | | | 1 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | BLOC1S3 CL E G H | 388552 | 20914 | OMIM:614077 | Hermansky-Pudlak syndrome 8 | . | | | 42 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | BLOC1S5 CL E G H | 63915 | 18561 | OMIM:619172 | HERMANSKY-PUDLAK SYNDROME 11; HPS11 | | | | | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | BLOC1S6 CL E G H | 26258 | 8549 | OMIM:614171 | Hermansky-Pudlak syndrome 9 | . | | | 35 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | DTNBP1 CL E G H | 84062 | 17328 | OMIM:614076 | Hermansky-Pudlak syndrome 7 | . | | | 46 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | GPR143 CL E G H | 4935 | 20145 | OMIM:300500 | Albinism, ocular, type I | . | | | 64 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | GPR143 CL E G H | 4935 | 20145 | ORPHA:54 | X-linked recessive ocular albinism | HP:0040281 - Very frequent | | | 64 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | . | | | 121 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | HPS4 CL E G H | 89781 | 15844 | OMIM:614073 | Hermansky-Pudlak syndrome 4 | . | | | 123 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | HPS5 CL E G H | 11234 | 17022 | OMIM:614074 | Hermansky-Pudlak syndrome 5 | . | | | 105 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | HPS6 CL E G H | 79803 | 18817 | OMIM:614075 | Hermansky-Pudlak syndrome 6 | . | | | 45 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:352723 | Attenuated Chédiak-Higashi syndrome | HP:0040281 - Very frequent | | | 239 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | SLC45A2 CL E G H | 51151 | 16472 | ORPHA:79435 | Oculocutaneous albinism type 4 | HP:0040282 - Frequent | | | 42 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | HP:0040283 - Occasional | | | 61 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | TYR CL E G H | 7299 | 12442 | OMIM:203100 | Albinism, oculocutaneous, type IA | . | | | 146 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | TYR CL E G H | 7299 | 12442 | ORPHA:79431 | Oculocutaneous albinism type 1A | HP:0040281 - Very frequent | | | 146 | | |
HP:0007730 | HP:0001107 | Ocular albinism | 1 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |