Human | LOC100507436 | 100507436 | | INFERRED, Score=800, UMLKSK CUI: C0282528 |
Human | OCTN3 | 100049579 | organic cation transporter 3 | INFERRED, Score=800, UMLKSK CUI: C0282528 |
Human | CCR2 | 729230 | chemokine (C-C motif) receptor 2 | INFERRED, Score=800, UMLKSK CUI: C0282528 |
Human | MIR212 | 406994 | microRNA 212 | INFERRED, Score=800, UMLKSK CUI: C0282528 |
Human | EXOSC6 | 118460 | exosome component 6 | INFERRED, Score=800, UMLKSK CUI: C0282528 |
Human | ACSBG2 | 81616 | acyl-CoA synthetase bubblegum family member 2 | INFERRED, Score=800, UMLKSK CUI: C0282528 |
Human | PTPN22 | 26191 | protein tyrosine phosphatase, non-receptor type 22 (lymphoid) | INFERRED, Score=800, UMLKSK CUI: C0282528 |
Human | CLEC16A | 23274 | C-type lectin domain family 16, member A | INFERRED, Score=800, UMLKSK CUI: C0282528 |
Human | ACSBG1 | 23205 | acyl-CoA synthetase bubblegum family member 1 | INFERRED, Score=800, UMLKSK CUI: C0282528 |
Human | BCAP31 | 10134 | B-cell receptor-associated protein 31 | Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders |
Human | PEX16 | 9409 | peroxisomal biogenesis factor 16 | INFERRED, Score=800, UMLKSK CUI: C0282528 |
Human | VDR | 7421 | vitamin D (1,25- dihydroxyvitamin D3) receptor | INFERRED, Score=800, UMLKSK CUI: C0282528 |
Human | TTPA | 7274 | tocopherol (alpha) transfer protein | INFERRED, Score=800, UMLKSK CUI: C0282528 |
Human | SRD5A2 | 6716 | steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) | INFERRED, Score=800, UMLKSK CUI: C0282528 |
Human | SNCA | 6622 | synuclein, alpha (non A4 component of amyloid precursor) | INFERRED, Score=800, UMLKSK CUI: C0282528 |
Human | S100B | 6285 | S100 calcium binding protein B | INFERRED, Score=800, UMLKSK CUI: C0282528 |
Human | PEX5 | 5830 | peroxisomal biogenesis factor 5 | INFERRED, Score=800, UMLKSK CUI: C0282528 |
Human | ABCD4 | 5826 | ATP-binding cassette, sub-family D (ALD), member 4 | INFERRED, Score=800, UMLKSK CUI: C0282528 |
Human | ABCD3 | 5825 | ATP-binding cassette, sub-family D (ALD), member 3 | INFERRED, Score=800, UMLKSK CUI: C0282528 |
Human | PLG | 5340 | plasminogen | INFERRED, Score=800, UMLKSK CUI: C0282528 |
Human | PHYH | 5264 | phytanoyl-CoA 2-hydroxylase | INFERRED, Score=800, UMLKSK CUI: C0282528 |
Human | PEX14 | 5195 | peroxisomal biogenesis factor 14 | INFERRED, Score=800, UMLKSK CUI: C0282528 |
Human | PEX13 | 5194 | peroxisomal biogenesis factor 13 | analysis of PEX13 substitution of Ile326 by threonine in a patient with peroxisomal biogenesis disorder [case report] |
Human | PEX12 | 5193 | peroxisomal biogenesis factor 12 | Highly probable candidate gene for direct sequencing in the context of a peroxisomal biogenesis disorder with a mild clinical phenotype, mosaicism and minimally abnormal peroxisomal parameters in fibroblasts |
Human | PEX7 | 5191 | peroxisomal biogenesis factor 7 | INFERRED, Score=800, UMLKSK CUI: C0282528 |