Human | BLOC1S3 | 388552 | biogenesis of lysosomal organelles complex-1, subunit 3 | |
Human | HPS4 | 89781 | Hermansky-Pudlak syndrome 4 | |
Human | HPS3 | 84343 | Hermansky-Pudlak syndrome 3 | |
Human | DTNBP1 | 84062 | dystrobrevin binding protein 1 | |
Human | HPS6 | 79803 | Hermansky-Pudlak syndrome 6 | |
Human | VPS33A | 65082 | vacuolar protein sorting 33 homolog A (S. cerevisiae) | INFERRED, Score=800, UMLKSK CUI: C0001916 |
Human | SLC45A2 | 51151 | solute carrier family 45, member 2 | INFERRED, Score=800, UMLKSK CUI: C0001916 |
Human | RAB38 | 23682 | RAB38, member RAS oncogene family | INFERRED, Score=800, UMLKSK CUI: C0001916 |
Human | HPS5 | 11234 | Hermansky-Pudlak syndrome 5 | |
Human | ABCC4 | 10257 | ATP-binding cassette, sub-family C (CFTR/MRP), member 4 | INFERRED, Score=800, UMLKSK CUI: C0001916 |
Human | AP3B1 | 8546 | adaptor-related protein complex 3, beta 1 subunit | INFERRED, Score=800, UMLKSK CUI: C0001916 |
Human | TYRP1 | 7306 | tyrosinase-related protein 1 | ? same as type II albinism (203200) |
Human | TYR | 7299 | tyrosinase | no mutations in oculocutaneou albinism The absence of evidence for projection abnormalities in human OCA1a carriers contrasts with the previously reported evidence for abnormalities in cat-carriers of tyrosinase-related albinism Data show that oculocutaneous albinism soluble tyrosinase is an endoplasmic reticulum-associated degradation substrate that, unlike other albino tyrosinases, associates with calreticulin and BiP/GRP78, but not calnexin Sequensce databases contribute to demonstrating novel mutations in tyrosinase of albinism in Indians and Japanese |
Human | SNAI2 | 6591 | snail family zinc finger 2 | INFERRED, Score=800, UMLKSK CUI: C0001916 |
Human | PAX3 | 5077 | paired box 3 | INFERRED, Score=800, UMLKSK CUI: C0001916 |
Human | OCA2 | 4948 | oculocutaneous albinism II | INFERRED, Score=800, UMLKSK CUI: C0001916 |
Human | GPR143 | 4935 | G protein-coupled receptor 143 | Panretinal function in OA1 is within normal limits at all ages, consistent with previous reports in generalized albinism |
Human | MITF | 4286 | microphthalmia-associated transcription factor | INFERRED, Score=800, UMLKSK CUI: C0001916 |
Human | MC1R | 4157 | melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) | INFERRED, Score=800, UMLKSK CUI: C0001916 |
Human | KIT | 3815 | v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog | INFERRED, Score=800, UMLKSK CUI: C0001916 |
Human | HPS1 | 3257 | Hermansky-Pudlak syndrome 1 | |
Human | EDNRB | 1910 | endothelin receptor type B | |
Human | CACNA1F | 778 | calcium channel, voltage-dependent, L type, alpha 1F subunit | |