Human | SPRED1 | 161742 | sprouty-related, EVH1 domain containing 1 | INFERRED, Score=800, UMLKSK CUI: C0162678 |
Human | INHBE | 83729 | inhibin, beta E | INFERRED, Score=800, UMLKSK CUI: C0162678 |
Human | ADAP2 | 55803 | ArfGAP with dual PH domains 2 | INFERRED, Score=800, UMLKSK CUI: C0162678 |
Human | IL23A | 51561 | interleukin 23, alpha subunit p19 | INFERRED, Score=800, UMLKSK CUI: C0162678 |
Human | SUZ12 | 23512 | SUZ12 polycomb repressive complex 2 subunit | INFERRED, Score=800, UMLKSK CUI: C0162678 |
Human | SPINK5 | 11005 | serine peptidase inhibitor, Kazal type 5 | INFERRED, Score=800, UMLKSK CUI: C0162678 |
Human | RGS6 | 9628 | regulator of G-protein signaling 6 | INFERRED, Score=800, UMLKSK CUI: C0162678 |
Human | IQGAP1 | 8826 | IQ motif containing GTPase activating protein 1 | INFERRED, Score=800, UMLKSK CUI: C0162678 |
Human | TP63 | 8626 | tumor protein p63 | INFERRED, Score=800, UMLKSK CUI: C0162678 |
Human | AKAP1 | 8165 | A kinase (PRKA) anchor protein 1 | INFERRED, Score=800, UMLKSK CUI: C0162678 |
Human | SCG2 | 7857 | secretogranin II | INFERRED, Score=800, UMLKSK CUI: C0162678 |
Human | EZR | 7430 | ezrin | INFERRED, Score=800, UMLKSK CUI: C0162678 |
Human | SYP | 6855 | synaptophysin | INFERRED, Score=800, UMLKSK CUI: C0162678 |
Human | STK11 | 6794 | serine/threonine kinase 11 | Topics discussed here include PTEN mutations and colonic polyps; WNT signaling, APC, beta-catenin, and gastrointestinal neoplasms; mismatch-repair genes (MLH1, MSH2, PMS1, MSH6) and hereditary nonpolyposis colorectal cancer; MYH mutations and autosomal recessive colorectal tumors; STK11 mutations and Peutz-Jeghers syndrome; TGFbeta and gastrointestinal cancer; BMPR1A mutations and juvenile polyposis; FGF/FGFR alterations in gastrointestinal neoplasms; PTCH mutations and gastrointestinal neoplasms; RUNX3 expression and gastric cancer; role of mucins in gastric carcinogenesis; KIT, PDGFRalpha, and gastrointestinal stromal tumors; intestinal neurofibromatosis; and gastrointestinal tumors in other disorders. |
Human | SRY | 6736 | sex determining region Y | INFERRED, Score=800, UMLKSK CUI: C0162678 |
Human | SDHD | 6392 | succinate dehydrogenase complex, subunit D, integral membrane protein | INFERRED, Score=800, UMLKSK CUI: C0162678 |
Human | RASA1 | 5921 | RAS p21 protein activator (GTPase activating protein) 1 | INFERRED, Score=800, UMLKSK CUI: C0162678 |
Human | QDPR | 5860 | quinoid dihydropteridine reductase | Other conditions associated with calcification were Sturge-Weber syndrome, neurofibromatosis, Cockaynes syndrome, hypoparathyroidism, arteriovenous malformations, vein of Galen aneurysm, encephalomalacia, cerebral infarcts, subdural hematoma, cerebral infections, birth asphyxia and dihydropteridine reductase deficiency. |
Human | PTPN11 | 5781 | protein tyrosine phosphatase, non-receptor type 11 | INFERRED, Score=800, UMLKSK CUI: C0162678 |
Human | PMS2 | 5395 | PMS2 postmeiotic segregation increased 2 (S. cerevisiae) | INFERRED, Score=800, UMLKSK CUI: C0162678 |
Human | PMS1 | 5378 | PMS1 postmeiotic segregation increased 1 (S. cerevisiae) | Topics discussed here include PTEN mutations and colonic polyps; WNT signaling, APC, beta-catenin, and gastrointestinal neoplasms; mismatch-repair genes (MLH1, MSH2, PMS1, MSH6) and hereditary nonpolyposis colorectal cancer; MYH mutations and autosomal recessive colorectal tumors; STK11 mutations and Peutz-Jeghers syndrome; TGFbeta and gastrointestinal cancer; BMPR1A mutations and juvenile polyposis; FGF/FGFR alterations in gastrointestinal neoplasms; PTCH mutations and gastrointestinal neoplasms; RUNX3 expression and gastric cancer; role of mucins in gastric carcinogenesis; KIT, PDGFRalpha, and gastrointestinal stromal tumors; intestinal neurofibromatosis; and gastrointestinal tumors in other disorders. |
Human | PDGFRA | 5156 | platelet-derived growth factor receptor, alpha polypeptide | INFERRED, Score=800, UMLKSK CUI: C0162678 |
Human | PDGFB | 5155 | platelet-derived growth factor beta polypeptide | In situ hybridization with a c-sis probe was performed on peripheral lymphocytes of a man with neurofibromatosis and a ring 22 chromosome. |
Human | OMG | 4974 | oligodendrocyte myelin glycoprotein | The OMgp gene is placed within an intron of the neurofibromatosis type I gene and on the opposite strand. Quantitative analysis of NF1 and OMGP gene transcripts in sporadic gliomas, sporadic meningiomas and neurofibromatosis type 1-associated plexiform neurofibromas. |
Human | NF2 | 4771 | neurofibromin 2 (merlin) | Click here to display 14 evidence detail records. |