Human | LOC100507436 | 100507436 | | INFERRED, Score=800, UMLKSK CUI: C0001623 |
Human | CCR2 | 729230 | chemokine (C-C motif) receptor 2 | INFERRED, Score=800, UMLKSK CUI: C0001623 |
Human | MIR212 | 406994 | microRNA 212 | INFERRED, Score=800, UMLKSK CUI: C0001623 |
Human | EXOSC6 | 118460 | exosome component 6 | INFERRED, Score=800, UMLKSK CUI: C0001623 |
Human | ACSBG2 | 81616 | acyl-CoA synthetase bubblegum family member 2 | INFERRED, Score=800, UMLKSK CUI: C0001623 |
Human | PEX26 | 55670 | peroxisomal biogenesis factor 26 | |
Human | PTPN22 | 26191 | protein tyrosine phosphatase, non-receptor type 22 (lymphoid) | INFERRED, Score=800, UMLKSK CUI: C0001623 |
Human | CLEC16A | 23274 | C-type lectin domain family 16, member A | INFERRED, Score=800, UMLKSK CUI: C0001623 |
Human | ACSBG1 | 23205 | acyl-CoA synthetase bubblegum family member 1 | INFERRED, Score=800, UMLKSK CUI: C0001623 |
Human | BCAP31 | 10134 | B-cell receptor-associated protein 31 | INFERRED, Score=800, UMLKSK CUI: C0001623 |
Human | AAAS | 8086 | achalasia, adrenocortical insufficiency, alacrimia | The prognosis of patients with triple A syndrome depends on the identification and treatment of adrenal insufficiency Adrenocorticotropic hormone (ACTH)-resistant adrenal insufficiency Adrenal insufficiency usually develops later (first decade) |
Human | LHX3 | 8022 | LIM homeobox 3 | |
Human | VDR | 7421 | vitamin D (1,25- dihydroxyvitamin D3) receptor | INFERRED, Score=800, UMLKSK CUI: C0001623 |
Human | TTPA | 7274 | tocopherol (alpha) transfer protein | INFERRED, Score=800, UMLKSK CUI: C0001623 |
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: C0001623 |
Human | SNCA | 6622 | synuclein, alpha (non A4 component of amyloid precursor) | INFERRED, Score=800, UMLKSK CUI: C0001623 |
Human | SGK1 | 6446 | serum/glucocorticoid regulated kinase 1 | INFERRED, Score=800, UMLKSK CUI: C0001623 |
Human | SCNN1G | 6340 | sodium channel, non-voltage-gated 1, gamma subunit | INFERRED, Score=800, UMLKSK CUI: C0001623 |
Human | SCNN1B | 6338 | sodium channel, non-voltage-gated 1, beta subunit | INFERRED, Score=800, UMLKSK CUI: C0001623 |
Human | SCNN1A | 6337 | sodium channel, non-voltage-gated 1 alpha subunit | INFERRED, Score=800, UMLKSK CUI: C0001623 |
Human | S100B | 6285 | S100 calcium binding protein B | INFERRED, Score=800, UMLKSK CUI: C0001623 |
Human | PEX5 | 5830 | peroxisomal biogenesis factor 5 | |
Human | ABCD4 | 5826 | ATP-binding cassette, sub-family D (ALD), member 4 | INFERRED, Score=800, UMLKSK CUI: C0001623 |
Human | ABCD3 | 5825 | ATP-binding cassette, sub-family D (ALD), member 3 | INFERRED, Score=800, UMLKSK CUI: C0001623 |
Human | PROP1 | 5626 | PROP paired-like homeobox 1 | anterior pituitary function in patients with PROP1 mutations deteriorates progressively and includes adrenal insufficiency |