Human | CLDN19 | 149461 | claudin 19 | INFERRED, Score=800, UMLKSK CUI: C0006663 |
Human | SAMD9 | 54809 | sterile alpha motif domain containing 9 | PIvotal role in calcification and thus implicated in various hereditary diseases such as atherosclerosis, calcinosis and autoimmune diseases |
Human | SBDS | 51119 | Shwachman-Bodian-Diamond syndrome | INFERRED, Score=800, UMLKSK CUI: C0006663 |
Human | VPS33B | 26276 | vacuolar protein sorting 33 homolog B (yeast) | INFERRED, Score=800, UMLKSK CUI: C0006663 |
Human | IBGC1 | 23706 | idiopathic basal ganglia calcification 1 | NOT linked in indiopathic basal ganglia calcinosis |
Human | CLDN16 | 10686 | claudin 16 | INFERRED, Score=800, UMLKSK CUI: C0006663 |
Human | GTF2IRD1 | 9569 | GTF2I repeat domain containing 1 | INFERRED, Score=800, UMLKSK CUI: C0006663 |
Human | KL | 9365 | klotho | Calcinosis of the renal parenchyma |
Human | FGF23 | 8074 | fibroblast growth factor 23 | Calcinosis of the renal parenchyma |
Human | TNNI1 | 7135 | troponin I type 1 (skeletal, slow) | Increased serum levels of troponin I is associated with calcinosis and coronary Artery Stenosis |
Human | SLC20A1 | 6574 | solute carrier family 20 (phosphate transporter), member 1 | An overexpression of Pit-1 seems to play a key role in the formation of soft tissue calcification in Werner syndrome |
Human | SLC34A1 | 6569 | solute carrier family 34 (type II sodium/phosphate contransporter), member 1 | INFERRED, Score=800, UMLKSK CUI: C0006663 |
Human | SLC12A1 | 6557 | solute carrier family 12 (sodium/potassium/chloride transporter), member 1 | INFERRED, Score=800, UMLKSK CUI: C0006663 |
Human | SLC4A1 | 6521 | solute carrier family 4 (anion exchanger), member 1 | INFERRED, Score=800, UMLKSK CUI: C0006663 |
Human | PTH1R | 5745 | parathyroid hormone 1 receptor | INFERRED, Score=800, UMLKSK CUI: C0006663 |
Human | OCRL | 4952 | oculocerebrorenal syndrome of Lowe | INFERRED, Score=800, UMLKSK CUI: C0006663 |
Human | MGP | 4256 | matrix Gla protein | REVIEW: an important inhibitor of pathologic calcification, and deficiency contributes to pathogenesis of cardiovascular calcifications in dialysis patients |
Human | LMNA | 4000 | lamin A/C | Tendinous calcinosis at elbows, knees, and ankles |
Human | KCNJ1 | 3758 | potassium inwardly-rectifying channel, subfamily J, member 1 | INFERRED, Score=800, UMLKSK CUI: C0006663 |
Human | GTF2I | 2969 | general transcription factor IIi | INFERRED, Score=800, UMLKSK CUI: C0006663 |
Human | GALNT3 | 2591 | UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) | Calcinosis of the renal parenchyma Calcinosis presenting with eyelid calcifications due to novel missense mutations in GALNT3 |
Human | ELN | 2006 | elastin | INFERRED, Score=800, UMLKSK CUI: C0006663 |
Human | CLCNKB | 1188 | chloride channel, voltage-sensitive Kb | INFERRED, Score=800, UMLKSK CUI: C0006663 |
Human | CLCN5 | 1184 | chloride channel, voltage-sensitive 5 | INFERRED, Score=800, UMLKSK CUI: C0006663 |
Human | CASR | 846 | calcium-sensing receptor | |