Human | PPBPL1 | 728045 | | INFERRED, Score=800, UMLKSK CUI: C0005779 |
Human | ERVK7 | 449619 | | INFERRED, Score=800, UMLKSK CUI: C0005779 |
Human | BLOC1S3 | 388552 | biogenesis of lysosomal organelles complex-1, subunit 3 | INFERRED, Score=800, UMLKSK CUI: C0005779 |
Human | NEWENTRY | 192343 | Record to support submission of GeneRIFs for a gene not in Gene (human; man). | INFERRED, Score=800, UMLKSK CUI: C0005779 |
Human | MCFD2 | 90411 | multiple coagulation factor deficiency 2 | INFERRED, Score=800, UMLKSK CUI: C0005779 |
Human | HPS3 | 84343 | Hermansky-Pudlak syndrome 3 | INFERRED, Score=800, UMLKSK CUI: C0005779 |
Human | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Coagulopathy secondary to liver disease |
Human | VPS33A | 65082 | vacuolar protein sorting 33 homolog A (S. cerevisiae) | INFERRED, Score=800, UMLKSK CUI: C0005779 |
Human | CD177 | 57126 | CD177 molecule | INFERRED, Score=800, UMLKSK CUI: C0005779 |
Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | Coagulopathy due to hepatic failure |
Human | GP6 | 51206 | glycoprotein VI (platelet) | INFERRED, Score=800, UMLKSK CUI: C0005779 |
Human | SLC45A2 | 51151 | solute carrier family 45, member 2 | INFERRED, Score=800, UMLKSK CUI: C0005779 |
Human | TBX21 | 30009 | T-box 21 | INFERRED, Score=800, UMLKSK CUI: C0005779 |
Human | ALG6 | 29929 | ALG6, alpha-1,3-glucosyltransferase | INFERRED, Score=800, UMLKSK CUI: C0005779 |
Human | UQCRQ | 27089 | ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa | Coagulation defect due to decreased liver function |
Human | PTPN22 | 26191 | protein tyrosine phosphatase, non-receptor type 22 (lymphoid) | INFERRED, Score=800, UMLKSK CUI: C0005779 |
Human | MMACHC | 25974 | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria | INFERRED, Score=800, UMLKSK CUI: C0005779 |
Human | RAB38 | 23682 | RAB38, member RAS oncogene family | INFERRED, Score=800, UMLKSK CUI: C0005779 |
Human | TREX1 | 11277 | three prime repair exonuclease 1 | INFERRED, Score=800, UMLKSK CUI: C0005779 |
Human | ADAMTS13 | 11093 | ADAM metallopeptidase with thrombospondin type 1 motif, 13 | INFERRED, Score=800, UMLKSK CUI: C0005779 |
Human | ABCC4 | 10257 | ATP-binding cassette, sub-family C (CFTR/MRP), member 4 | INFERRED, Score=800, UMLKSK CUI: C0005779 |
Human | AIP | 9049 | aryl hydrocarbon receptor interacting protein | INFERRED, Score=800, UMLKSK CUI: C0005779 |
Human | WASF1 | 8936 | WAS protein family, member 1 | INFERRED, Score=800, UMLKSK CUI: C0005779 |
Human | CCNA1 | 8900 | cyclin A1 | INFERRED, Score=800, UMLKSK CUI: C0005779 |
Human | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit | INFERRED, Score=800, UMLKSK CUI: C0005779 |