Human | G6PC2 | 57818 | glucose-6-phosphatase, catalytic, 2 | INFERRED, Score=800, UMLKSK CUI: C0017919 |
Human | UGT1A1 | 54658 | UDP glucuronosyltransferase 1 family, polypeptide A1 | INFERRED, Score=800, UMLKSK CUI: C0017919 |
Human | PRKAG2 | 51422 | protein kinase, AMP-activated, gamma 2 non-catalytic subunit | Altered AMPK gamma 2 subunit activity under normal energetic status remodels the cardiac metabolic network to cause a unique form of glycogen storage disease in transgenic mice The study describe a 38-year-old man with a new heterozygous PRKAG2 mutation (Ser548Pro) manifesting by hypertrophic cardiomyopathy, severe conduction system abnormalities, and skeletal muscle glycogenosis |
Human | VWF | 7450 | von Willebrand factor | INFERRED, Score=800, UMLKSK CUI: C0017919 |
Human | TNF | 7124 | tumor necrosis factor | INFERRED, Score=800, UMLKSK CUI: C0017919 |
Human | TGFB1 | 7040 | transforming growth factor, beta 1 | INFERRED, Score=800, UMLKSK CUI: C0017919 |
Human | SLC3A1 | 6519 | solute carrier family 3 (amino acid transporter heavy chain), member 1 | Title:[Sensitivity, specificity and predictive value of the genetic analysis of SLC3A1 gene variants used for the diagnosis of cystinuria among the spanish population]|Association:Not Found|Conclusion:The studied genetic variants did not show enough clinical usefulness. |
Human | SLC2A4 | 6517 | solute carrier family 2 (facilitated glucose transporter), member 4 | INFERRED, Score=800, UMLKSK CUI: C0017919 |
Human | PYGM | 5837 | phosphorylase, glycogen, muscle | INFERRED, Score=800, UMLKSK CUI: C0017919 |
Human | PHKB | 5257 | phosphorylase kinase, beta | INFERRED, Score=800, UMLKSK CUI: C0017919 |
Human | PFKM | 5213 | phosphofructokinase, muscle | INFERRED, Score=800, UMLKSK CUI: C0017919 |
Human | LAMP2 | 3920 | lysosomal-associated membrane protein 2 | INFERRED, Score=800, UMLKSK CUI: C0017919 |
Human | KCNJ12 | 3768 | potassium inwardly-rectifying channel, subfamily J, member 12 | INFERRED, Score=800, UMLKSK CUI: C0017919 |
Human | KCNJ6 | 3763 | potassium inwardly-rectifying channel, subfamily J, member 6 | INFERRED, Score=800, UMLKSK CUI: C0017919 |
Human | KCNJ3 | 3760 | potassium inwardly-rectifying channel, subfamily J, member 3 | INFERRED, Score=800, UMLKSK CUI: C0017919 |
Human | IL10 | 3586 | interleukin 10 | INFERRED, Score=800, UMLKSK CUI: C0017919 |
Human | IL8 | 3576 | interleukin 8 | INFERRED, Score=800, UMLKSK CUI: C0017919 |
Human | IL6 | 3569 | interleukin 6 (interferon, beta 2) | INFERRED, Score=800, UMLKSK CUI: C0017919 |
Human | IFNG | 3458 | interferon, gamma | INFERRED, Score=800, UMLKSK CUI: C0017919 |
Human | GBE1 | 2632 | glucan (1,4-alpha-), branching enzyme 1 | INFERRED, Score=800, UMLKSK CUI: C0017919 |
Human | GAA | 2548 | glucosidase, alpha; acid | Title:Glycogen storage disease type II: enzymaticscreening in dried blood spots on filter paper.|Association:Not Found|Conclusion:We developed a simple and noninvasive screening method for glycogen storage disease II. The method could be incorporated into newborn screening. |
Human | G6PD | 2539 | glucose-6-phosphate dehydrogenase | INFERRED, Score=800, UMLKSK CUI: C0017919 |
Human | G6PC | 2538 | glucose-6-phosphatase, catalytic subunit | Title:Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.|Association:Not Found|Conclusion:This carrier frequency translates into a predicted disease prevalence of 1 in 20,000, five times higher than for the general Caucasian population, confirming a founder effect and elevated frequency of GSDIa in the AJ population. We observed no carriers of the Q347X mutation. Among the 30 GSDIa affected AJ subjects, all were homozygous for R83C. These results indicate that R83C is the only prevalent mutation for GSDIa in the Ashkenazi population. |
Human | ACE | 1636 | angiotensin I converting enzyme | INFERRED, Score=800, UMLKSK CUI: C0017919 |
Human | SCARB1 | 949 | scavenger receptor class B, member 1 | INFERRED, Score=800, UMLKSK CUI: C0017919 |