CAON
MCID: NPH091
MIFTS: 60

Nephrolithiasis, Calcium Oxalate (CAON)

Categories: Blood diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Nephrolithiasis, Calcium Oxalate

MalaCards integrated aliases for Nephrolithiasis, Calcium Oxalate:

Name: Nephrolithiasis, Calcium Oxalate 57 75 40 73
Kidney Stones 57 75 43 63
Calcium Oxalate Urolithiasis 75 29 6
Urolithiasis, Calcium Oxalate 57 75
Caon 57 75
Calcium Oxalate Nephrolithiasis 37
Nephrolithiasis 73
Kidney Calculi 73
Renal Stone 55

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
one patient has been reported (last curated june 2016)


HPO:

32
nephrolithiasis, calcium oxalate:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephrolithiasis, Calcium Oxalate

PubMed Health : 63 About kidney stones: Kidney stones are small, hard deposits that can form in a part of the kidney called the renal pelvis. Kidney stones that enter a ureter are sometimes referred to as ureteral stones. The ureters are the tubes that carry urine from the kidneys to the bladder.Many of these stones are so small that they are able to travel to the bladder in just a few days or weeks without any treatment, and then exit the body in your urine. So if the stones are smaller, it's often enough to take painkillers, drink plenty of fluids and simply wait for the kidney stones to pass through. Muscle-relaxing medications can be used to help pass medium-sized stones.Larger stones may get stuck as they exit the renal pelvis or take longer to move through the ureter, causing severe pain and other symptoms. Then they usually need to be broken up by sound waves or surgically removed. The most suitable treatment will depend on the size, the type and the position of the stones in the kidney or the urinary tract.It's common to have kidney stones multiple times. Finding the cause is a necessary part of preventing that from happening.

MalaCards based summary : Nephrolithiasis, Calcium Oxalate, also known as kidney stones, is related to hypercalciuria, absorptive, 2 and chronic kidney failure, and has symptoms including renal pain An important gene associated with Nephrolithiasis, Calcium Oxalate is SLC26A1 (Solute Carrier Family 26 Member 1), and among its related pathways/superpathways are Parathyroid hormone synthesis, secretion and action and Glyoxylate and dicarboxylate metabolism. The drugs Citric Acid and Citrate have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and bone, and related phenotypes are acute kidney injury and ureteropelvic junction obstruction

OMIM : 57 Kleta (2006) reviewed aspects of renal stone disease. Nephrolithiasis and urolithiasis remain major public health problems of largely unknown cause. While disorders such as cystinuria (220100) and primary hyperoxaluria (see 259900) that have nephrolithiasis as a major feature have advanced understanding of the metabolic and physiologic processes of stone formation in general, they have not addressed the etiology of calcium oxalate stone formation, responsible for approximately 75% of urolithiasis cases in humans. Men are affected twice as often as women, but children show no such gender bias. The recurrence rate is also high. In populations of European ancestry, 5 to 10% of adults experience the painful precipitation of calcium oxalate in their urinary tracts. Thorleifsson et al. (2009) noted that between 35 and 65% of hypercalciuric stone formers and up to 70% of subjects with hypercalciuria have relatives with nephrolithiasis, and twin studies have estimated the heritability of kidney stones to be 56%. (167030)

MedlinePlus : 43 A kidney stone is a solid piece of material that forms in the kidney from substances in the urine. It may be as small as a grain of sand or as large as a pearl. Most kidney stones pass out of the body without help from a doctor. But sometimes a stone will not go away. It may get stuck in the urinary tract, block the flow of urine and cause great pain. The following may be signs of kidney stones that need a doctor's help: Extreme pain in your back or side that will not go away Blood in your urine Fever and chills Vomiting Urine that smells bad or looks cloudy A burning feeling when you urinate Your doctor will diagnose a kidney stone with urine, blood, and imaging tests. If you have a stone that won't pass on its own, you may need treatment. It can be done with shock waves; with a scope inserted through the tube that carries urine out of the body, called the urethra; or with surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

UniProtKB/Swiss-Prot : 75 Nephrolithiasis, calcium oxalate: A form of nephrolithiasis, a condition in which urinary supersaturation leads to stone formation in the urinary system. Patients manifest acute renal colic with severe pain originating in the flank. Patients with small, non-obstructing stones or those with staghorn calculi may be asymptomatic. The majority of renal calculi contain calcium. CAON is characterized by calcium oxalate kidney stones.

Wikipedia : 76 Kidney stone disease, also known as urolithiasis, is when a solid piece of material (kidney stone)... more...

Related Diseases for Nephrolithiasis, Calcium Oxalate

Diseases related to Nephrolithiasis, Calcium Oxalate via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 165)
# Related Disease Score Top Affiliating Genes
1 hypercalciuria, absorptive, 2 32.2 VDR CLCN5 CASR
2 chronic kidney failure 31.9 VDR UMOD SPP1 CASR AGXT
3 gout 31.8 APRT UMOD XDH
4 hereditary xanthinuria 31.6 APRT XDH
5 adenine phosphoribosyltransferase deficiency 31.5 APRT XDH
6 nephrocalcinosis 31.3 XDH UMOD SPP1 SLC34A1 GRHPR CLCN5
7 nephrolithiasis 31.3 XDH VDR UMOD SPP1 SLC34A1 SLC26A1
8 idiopathic hypercalciuria 29.6 VDR NAGLU CLCN5 CASR
9 bone resorption disease 29.6 SPP1 VDR IBSP
10 kidney disease 29.4 VDR UMOD SPP1 NAGLU MGP CLCN5
11 bone disease 29.3 VDR SPP1 IBSP CASR
12 osteoporosis 28.8 VDR SPP1 SLC34A1 MGP IBSP CASR
13 hyperparathyroidism 2 with jaw tumors 11.4
14 hyperoxaluria, primary, type iii 11.4
15 hyperparathyroidism 11.4
16 primary hyperparathyroidism 11.3
17 renal tubular acidosis, distal 11.3
18 alkaptonuria 11.2
19 nephrolithiasis, uric acid 11.2
20 ureterolithiasis 11.2
21 urethral calculus 11.2
22 medullary sponge kidney 11.2
23 hyperoxaluria, primary, type i 11.1
24 renal tubular acidosis, distal, with progressive nerve deafness 11.1
25 dent disease 1 11.1
26 hypocalcemia, autosomal dominant 1 11.1
27 5-oxoprolinase deficiency 11.0
28 kelley-seegmiller syndrome 11.0
29 nephrolithiasis, x-linked recessive, with renal failure 11.0
30 multiple endocrine neoplasia, type i 11.0
31 hypomagnesemia 3, renal 11.0
32 hyperoxaluria, primary, type ii 11.0
33 dent disease 2 11.0
34 glucose/galactose malabsorption 11.0
35 congenital short bowel syndrome 11.0
36 hypocalcemia, autosomal dominant 2 11.0
37 short bowel syndrome 11.0
38 hypoparathyroidism 11.0
39 anuria 11.0
40 osteitis fibrosa 11.0
41 autosomal dominant polycystic kidney disease 11.0
42 familial isolated hyperparathyroidism 11.0
43 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.0
44 slc4a1-associated distal renal tubular acidosis 11.0
45 bartter disease 10.2 UMOD CLCN5 CASR
46 calciphylaxis 10.2 CASR VDR
47 hypercalcemia, infantile, 1 10.1 CASR VDR
48 heart disease 10.1
49 hypouricemia, renal, 1 10.1
50 familial periodic paralysis 10.1

Graphical network of the top 20 diseases related to Nephrolithiasis, Calcium Oxalate:



Diseases related to Nephrolithiasis, Calcium Oxalate

Symptoms & Phenotypes for Nephrolithiasis, Calcium Oxalate

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Bladder:
ureteropelvic junction obstruction

Laboratory Abnormalities:
increased urinary oxalate

Genitourinary Kidneys:
acute renal failure
nephrolithiasis, calcium oxalate


Clinical features from OMIM:

167030

Human phenotypes related to Nephrolithiasis, Calcium Oxalate:

32
# Description HPO Frequency HPO Source Accession
1 acute kidney injury 32 HP:0001919
2 ureteropelvic junction obstruction 32 HP:0000074
3 calcium oxalate nephrolithiasis 32 HP:0008672
4 hyperoxaluria 32 HP:0003159

UMLS symptoms related to Nephrolithiasis, Calcium Oxalate:


renal pain

MGI Mouse Phenotypes related to Nephrolithiasis, Calcium Oxalate:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 APRT CASR CKB CKM CLCN5 IBSP
2 homeostasis/metabolism MP:0005376 10.13 AGXT APRT CASR CKM CLCN5 GRHPR
3 behavior/neurological MP:0005386 10.09 AMBP APRT CASR CKB NAGLU SLC34A1
4 cellular MP:0005384 10.06 CASR CKM CLCN5 NAGLU SLC26A1 SPP1
5 immune system MP:0005387 9.96 APRT CASR GRHPR IBSP NAGLU SLC26A1
6 renal/urinary system MP:0005367 9.77 AGXT APRT CASR CLCN5 GRHPR MGP
7 muscle MP:0005369 9.7 CASR CKM MGP SLC34A1 SPP1 VDR
8 skeleton MP:0005390 9.28 CASR CLCN5 IBSP MGP NAGLU SLC34A1

Drugs & Therapeutics for Nephrolithiasis, Calcium Oxalate

PubMedHealth treatment related to Nephrolithiasis, Calcium Oxalate: 63

If you have smaller kidney stones that aren't painful, all you need to do is wait to pass them when you urinate. It's possible to tell by their size and location whether they can pass on their own. You can use painkillers such as diclofenac, ibuprofen or metamizole to relieve any pain. They can be combined with stronger drugs (opioids) for more severe pain.Certain muscle-relaxing medications (alpha blockers) can make it easier to pass kidney stones that are 5 to 10 millimeters in diameter. Larger kidney stones usually need to be removed. Depending on how large the kidney stones are and where they're located, sound waves can be used to destroy them or they can be removed using endoscopy or surgery.

Drugs for Nephrolithiasis, Calcium Oxalate (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 77-92-9 311
2 Citrate Phase 4,Phase 2
3 Calcium, Dietary Phase 4,Phase 2,Phase 1,Not Applicable
4 Anticoagulants Phase 4
5 Chelating Agents Phase 4
6
Tolvaptan Approved Phase 1 150683-30-0 216237
7 Vasopressins Phase 1
8 Arginine Vasopressin Phase 1
9 Hormones Phase 1
10 Natriuretic Agents Phase 1
11
acetic acid Approved Not Applicable 64-19-7 176
12 Bone Density Conservation Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of Potassium Sodium Hydrogen Citrate Therapy on Renal Stone Recurrence and/or Residual Fragments After Shockwave Lithotripsy and Percutaneous Nephrolithotomy in Calcium Oxalate Urolithiasis Completed NCT01329042 Phase 4 Potassium-sodium citrate
2 Use of an Herbal Preparation to Prevent and Dissolve Kidney Stones Completed NCT00381849 Phase 1, Phase 2 Cystone;Sugar Pill (Placebo)
3 Nephrolithiasis Prevention by Lemon Juice Active, not recruiting NCT01217372 Phase 2
4 Use of Tolvaptan to Reduce Urinary Supersaturation: a Pilot Proof of Principle Study Completed NCT02096965 Phase 1 Tolvaptan;Placebo
5 Mature Vinegar Prophylaxis Against Recurrent Calcium Oxalate Nephrolithiasis Recruiting NCT03092908 Not Applicable
6 Oxalobacter Formigenes Colonization and Urinary Oxalate Excretion Recruiting NCT03752684 Not Applicable
7 Pilot Study to Evaluate the Contribution of Gene Variants to Idiopathic Urolithiasis Enrolling by invitation NCT01127854
8 Genetic Study of Nephrolithiasis in Gouty Diathesis Terminated NCT00149305

Search NIH Clinical Center for Nephrolithiasis, Calcium Oxalate

Genetic Tests for Nephrolithiasis, Calcium Oxalate

Genetic tests related to Nephrolithiasis, Calcium Oxalate:

# Genetic test Affiliating Genes
1 Calcium Oxalate Urolithiasis 29 SLC26A1

Anatomical Context for Nephrolithiasis, Calcium Oxalate

MalaCards organs/tissues related to Nephrolithiasis, Calcium Oxalate:

41
Kidney, Testes, Bone, Heart, Liver, Pituitary, Prostate

Publications for Nephrolithiasis, Calcium Oxalate

Articles related to Nephrolithiasis, Calcium Oxalate:

(show top 50) (show all 814)
# Title Authors Year
1
Gastrin-releasing peptide receptor gene silencing inhibits the development of the epithelial-mesenchymal transition and formation of a calcium oxalate crystal in renal tubular epithelial cells in mice with kidney stones via the PI3K/Akt signaling pathway. ( 30144073 )
2019
2
Incidence and characteristics of kidney stones in patients with horseshoe kidney: A systematic review and meta-analysis. ( 29416282 )
2018
3
Different managements of horseshoe kidney stones, any difference in the outcome? ( 30089987 )
2018
4
Timely Evaluation and Management of Primary Hyperparathyroidism in Patients With Kidney Stones. ( 30463775 )
2018
5
Recurrent kidney stones in a child with Lesch-Nyhan syndrome: Questions. ( 30112653 )
2018
6
Recurrent kidney stones in a child with Lesch-Nyhan syndrome: Answers. ( 30112657 )
2018
7
Incomplete Distal Renal Tubular Acidosis and Kidney Stones. ( 30139463 )
2018
8
Short-Term Changes in Urinary Relative Supersaturation Predict Recurrence of Kidney Stones: A Tool to Guide Preventive Measures in Urolithiasis. ( 29940247 )
2018
9
Successful Ultra-Minimally Invasive Endoscopic Intrarenal Surgery for 2-Year-Old Boy with Bilateral Cystine Kidney Stones Over 2 cm. ( 29984316 )
2018
10
Early and rapid prediction of postoperative infections following percutaneous nephrolithotomy in patients with complex kidney stones. ( 30007112 )
2018
11
Sixty seconds on . . . kidney stones. ( 30030220 )
2018
12
Thiazide Diuretic Dose and Risk of Kidney Stones in Older Adults: A Retrospective Cohort Study. ( 30034815 )
2018
13
Body fatness, diabetes, physical activity and risk of kidney stones: a systematic review and meta-analysis of cohort studies. ( 30066054 )
2018
14
Impact of patient position on the outcomes of percutaneous neprolithotomy for complex kidney stones. ( 30088725 )
2018
15
Development of a personalized diagnostic model for kidney stone disease tailored to acute care by integrating large clinical, demographics and laboratory data: the diagnostic acute care algorithm - kidney stones (DACA-KS). ( 30119627 )
2018
16
Comparison of Retrograde Intrarenal Surgery and Percutaneous Nephrolithotomy Methods For Management of Big- Sized Kidney Stones(? 4 cm): Single Center Retrospective Study. ( 30120766 )
2018
17
Vitamin D and calcium kidney stones: a review and a proposal. ( 30136085 )
2018
18
Feasibility of non-linear beamforming ultrasound methods to characterize and size kidney stones. ( 30153279 )
2018
19
Are Stone Density and Location Useful Parameters That Can Determine the Endourological Surgical Technique for Kidney Stones That Are Smaller than 2 cm? A Prospective Randomized Controlled Trial. ( 30178449 )
2018
20
Ascorbic Acid Supplements and Kidney Stones Incidence Among Men and Women: A systematic review and meta-analysis. ( 30178451 )
2018
21
Variation in National Opioid Prescribing Patterns Following Surgery for Kidney Stones. ( 30203013 )
2018
22
Geobiology reveals how human kidney stones dissolve in vivo. ( 30213974 )
2018
23
Hyponatremia and the risk of kidney stones: A matched case-control study in a large U.S. health system. ( 30240426 )
2018
24
Ultrasound follow up: Is an undetected spontaneous expulsion of stone fragments a sign of extracorporeal shock wave treatment failure in kidney stones? ( 30362680 )
2018
25
Recurrent kidney stones in a family with a mitochondrial disorder due to the m.3243A>G mutation. ( 30406307 )
2018
26
Green tea intake and risk of incident kidney stones: Prospective cohort studies in middle-aged and elderly Chinese individuals. ( 30408844 )
2018
27
Fructose increases risk for kidney stones: potential role in metabolic syndrome and heat stress. ( 30409184 )
2018
28
Re: Geobiology Reveals How Human Kidney Stones Dissolve In Vivo. ( 30449699 )
2018
29
Insights about urinary hippuric and citric acid as biomarkers of fruit and vegetable intake in patients with kidney stones: The role of age and sex. ( 30471528 )
2018
30
Empiric therapy for kidney stones. ( 30478476 )
2018
31
Dry eyes, dry mouth and kidney stones. ( 30544249 )
2018
32
SIRT3 inhibited the formation of calcium oxalate-induced kidney stones through regulating NRF2/HO-1 signaling pathway. ( 30548662 )
2018
33
Discharge materials provided to patients with kidney stones in the emergency department may be a source of misinformation. ( 30553283 )
2018
34
Complex cystine kidney stones treated with combined robot-assisted laparoscopic pyelolithotomy and intraoperative renoscopy. ( 28222205 )
2018
35
Protective effect of dietary polyphenol caffeic acid on ethylene glycol-induced kidney stones in rats. ( 28616648 )
2018
36
Vitamin B6 intake and the risk of incident kidney stones. ( 28674784 )
2018
37
Comparison of intermediate- and low-frequency shock wave lithotripsy for pediatric kidney stones. ( 28756458 )
2018
38
Evaluation of Kidney Stones with Reduced-Radiation Dose CT: Progress from 2011-2012 to 2015-2016-Not There Yet. ( 28858562 )
2018
39
Investigations of trace and toxic elements of kidney stones from two different Sudanese areas by µ-PIXE using Nuclear Microprobe (NMP). ( 29125974 )
2018
40
Relative Supersaturation of 24-Hour Urine and Likelihood of Kidney Stones. ( 29132983 )
2018
41
Drug-Induced Kidney Stones and Crystalline Nephropathy: Pathophysiology, Prevention and Treatment. ( 29264783 )
2018
42
Re: Low Bone Density and Bisphosphonate Use and the Risk of Kidney Stones. ( 29310177 )
2018
43
Fourier transform infrared spectroscopy for analysis of kidney stones. ( 29333512 )
2018
44
16S rRNA gene sequencing reveals altered composition of gut microbiota in individuals with kidney stones. ( 29353409 )
2018
45
Lost Opportunities: Radiologists Are Not Sufficiently Using Reduced-Dose CT for Kidney Stones. ( 29356632 )
2018
46
In vitro feasibility of next generation non-linear beamforming ultrasound methods to characterize and size kidney stones. ( 29356874 )
2018
47
Emergency Department Switching and Duplicate Computed Tomography Scans in Patients With Kidney Stones. ( 29371161 )
2018
48
Intake of Trace Metals and the Risk of Incident Kidney Stones. ( 29391176 )
2018
49
Comparison of ultrasound versus computed tomography for the detection of kidney stones in the pediatric population: a clinical effectiveness study. ( 29476214 )
2018
50
Common Variants in ALPL Gene Contribute to the Risk of Kidney Stones in the Han Chinese Population. ( 29489416 )
2018

Variations for Nephrolithiasis, Calcium Oxalate

UniProtKB/Swiss-Prot genetic disease variations for Nephrolithiasis, Calcium Oxalate:

75
# Symbol AA change Variation ID SNP ID
1 SLC26A1 p.Thr185Met VAR_077135 rs139024319
2 SLC26A1 p.Ser358Leu VAR_077136 rs148832260

ClinVar genetic disease variations for Nephrolithiasis, Calcium Oxalate:

6 (show top 50) (show all 82)
# Gene Variation Type Significance SNP ID Assembly Location
1 CD44 NM_000610.3(CD44): c.68-5843A> G single nucleotide variant association rs3794109 GRCh37 Chromosome 11, 35192279: 35192279
2 CD44 NM_000610.3(CD44): c.68-5843A> G single nucleotide variant association rs3794109 GRCh38 Chromosome 11, 35170732: 35170732
3 BGLAP NM_199173.5(BGLAP): c.*304G> A single nucleotide variant association rs759330 NCBI36 Chromosome 1, 154479881: 154479881
4 BGLAP NM_199173.5(BGLAP): c.*304G> A single nucleotide variant association rs759330 GRCh37 Chromosome 1, 156213257: 156213257
5 BGLAP NM_199173.5(BGLAP): c.*304G> A single nucleotide variant association rs759330 GRCh38 Chromosome 1, 156243466: 156243466
6 AHSG NM_001622.3(AHSG): c.574-298T> G single nucleotide variant association rs2070634 NCBI36 Chromosome 3, 187818721: 187818721
7 AHSG NM_001622.3(AHSG): c.574-298T> G single nucleotide variant association rs2070634 GRCh37 Chromosome 3, 186336027: 186336027
8 AHSG NM_001622.3(AHSG): c.574-298T> G single nucleotide variant association rs2070634 GRCh38 Chromosome 3, 186618238: 186618238
9 AHSG NM_001622.3(AHSG): c.574-149A> G single nucleotide variant association rs2070635 NCBI36 Chromosome 3, 187818870: 187818870
10 AHSG NM_001622.3(AHSG): c.574-149A> G single nucleotide variant association rs2070635 GRCh37 Chromosome 3, 186336176: 186336176
11 AHSG NM_001622.3(AHSG): c.574-149A> G single nucleotide variant association rs2070635 GRCh38 Chromosome 3, 186618387: 186618387
12 CD44 NM_000610.3(CD44): c.67+11205G> A single nucleotide variant association rs353623 NCBI36 Chromosome 11, 35128698: 35128698
13 CD44 NM_000610.3(CD44): c.67+11205G> A single nucleotide variant association rs353623 GRCh38 Chromosome 11, 35150575: 35150575
14 CD44 NM_000610.3(CD44): c.67+11205G> A single nucleotide variant association rs353623 GRCh37 Chromosome 11, 35172122: 35172122
15 CD44 NM_000610.3(CD44): c.67+14128T> C single nucleotide variant association rs353618 NCBI36 Chromosome 11, 35131621: 35131621
16 CD44 NM_000610.3(CD44): c.67+14128T> C single nucleotide variant association rs353618 GRCh38 Chromosome 11, 35153498: 35153498
17 CD44 NM_000610.3(CD44): c.67+14128T> C single nucleotide variant association rs353618 GRCh37 Chromosome 11, 35175045: 35175045
18 CD44 NM_000610.3(CD44): c.68-18471G> A single nucleotide variant association rs353612 NCBI36 Chromosome 11, 35136227: 35136227
19 CD44 NM_000610.3(CD44): c.68-18471G> A single nucleotide variant association rs353612 GRCh38 Chromosome 11, 35158104: 35158104
20 CD44 NM_000610.3(CD44): c.68-18471G> A single nucleotide variant association rs353612 GRCh37 Chromosome 11, 35179651: 35179651
21 CD44 NM_000610.3(CD44): c.68-13570A> T single nucleotide variant association rs353637 NCBI36 Chromosome 11, 35141128: 35141128
22 CD44 NM_000610.3(CD44): c.68-13570A> T single nucleotide variant association rs353637 GRCh38 Chromosome 11, 35163005: 35163005
23 CD44 NM_000610.3(CD44): c.68-13570A> T single nucleotide variant association rs353637 GRCh37 Chromosome 11, 35184552: 35184552
24 CD44 NM_000610.3(CD44): c.68-9931G> A single nucleotide variant association rs353630 NCBI36 Chromosome 11, 35144767: 35144767
25 CD44 NM_000610.3(CD44): c.68-9931G> A single nucleotide variant association rs353630 GRCh38 Chromosome 11, 35166644: 35166644
26 CD44 NM_000610.3(CD44): c.68-9931G> A single nucleotide variant association rs353630 GRCh37 Chromosome 11, 35188191: 35188191
27 CD44 NM_000610.3(CD44): c.68-6677C> G single nucleotide variant association rs353647 NCBI36 Chromosome 11, 35148021: 35148021
28 CD44 NM_000610.3(CD44): c.68-6677C> G single nucleotide variant association rs353647 GRCh38 Chromosome 11, 35169898: 35169898
29 CD44 NM_000610.3(CD44): c.68-6677C> G single nucleotide variant association rs353647 GRCh37 Chromosome 11, 35191445: 35191445
30 CD44 NM_000610.3(CD44): c.68-5908G> A single nucleotide variant association rs3794110 NCBI36 Chromosome 11, 35148790: 35148790
31 CD44 NM_000610.3(CD44): c.68-5908G> A single nucleotide variant association rs3794110 GRCh38 Chromosome 11, 35170667: 35170667
32 CD44 NM_000610.3(CD44): c.68-5908G> A single nucleotide variant association rs3794110 GRCh37 Chromosome 11, 35192214: 35192214
33 CD44 NM_000610.3(CD44): c.68-5843A> G single nucleotide variant association rs3794109 NCBI36 Chromosome 11, 35148855: 35148855
34 CD44 NM_000610.3(CD44): c.68-5493C> T single nucleotide variant association rs112762 NCBI36 Chromosome 11, 35149205: 35149205
35 CD44 NM_000610.3(CD44): c.68-5493C> T single nucleotide variant association rs112762 GRCh38 Chromosome 11, 35171082: 35171082
36 CD44 NM_000610.3(CD44): c.68-5493C> T single nucleotide variant association rs112762 GRCh37 Chromosome 11, 35192629: 35192629
37 CD44 NM_000610.3(CD44): c.234-905G> A single nucleotide variant association rs3794105 NCBI36 Chromosome 11, 35157492: 35157492
38 CD44 NM_000610.3(CD44): c.234-905G> A single nucleotide variant association rs3794105 GRCh38 Chromosome 11, 35179369: 35179369
39 CD44 NM_000610.3(CD44): c.234-905G> A single nucleotide variant association rs3794105 GRCh37 Chromosome 11, 35200916: 35200916
40 CD44 NM_000610.3(CD44): c.923-767T> A single nucleotide variant association rs7110737 NCBI36 Chromosome 11, 35178438: 35178438
41 CD44 NM_000610.3(CD44): c.923-767T> A single nucleotide variant association rs7110737 GRCh38 Chromosome 11, 35200315: 35200315
42 CD44 NM_000610.3(CD44): c.923-767T> A single nucleotide variant association rs7110737 GRCh37 Chromosome 11, 35221862: 35221862
43 CD44 NM_000610.3(CD44): c.2024+779A> G single nucleotide variant association rs7116432 NCBI36 Chromosome 11, 35200634: 35200634
44 CD44 NM_000610.3(CD44): c.2024+779A> G single nucleotide variant association rs7116432 GRCh38 Chromosome 11, 35222511: 35222511
45 CD44 NM_000610.3(CD44): c.2024+779A> G single nucleotide variant association rs7116432 GRCh37 Chromosome 11, 35244058: 35244058
46 HAO1 NM_017545.2(HAO1): c.*697T> C single nucleotide variant association rs6055363 NCBI36 Chromosome 20, 7811543: 7811543
47 HAO1 NM_017545.2(HAO1): c.*697T> C single nucleotide variant association rs6055363 GRCh37 Chromosome 20, 7863543: 7863543
48 HAO1 NM_017545.2(HAO1): c.*697T> C single nucleotide variant association rs6055363 GRCh38 Chromosome 20, 7882896: 7882896
49 HAO1 NM_017545.2(HAO1): c.814-2945A> G single nucleotide variant association rs2294305 NCBI36 Chromosome 20, 7817456: 7817456
50 HAO1 NM_017545.2(HAO1): c.814-2945A> G single nucleotide variant association rs2294305 GRCh37 Chromosome 20, 7869456: 7869456

Expression for Nephrolithiasis, Calcium Oxalate

Search GEO for disease gene expression data for Nephrolithiasis, Calcium Oxalate.

Pathways for Nephrolithiasis, Calcium Oxalate

GO Terms for Nephrolithiasis, Calcium Oxalate

Cellular components related to Nephrolithiasis, Calcium Oxalate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.23 AMBP APRT CKB GRHPR MGP NAGLU
2 vesicle GO:0031982 9.13 IBSP SLC34A1 SPP1

Biological processes related to Nephrolithiasis, Calcium Oxalate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.58 CASR MGP SLC34A1
2 chloride transmembrane transport GO:1902476 9.54 CASR CLCN5 SLC26A1
3 decidualization GO:0046697 9.43 SPP1 VDR
4 creatine metabolic process GO:0006600 9.32 CKB CKM
5 cellular nitrogen compound metabolic process GO:0034641 9.26 AGXT GRHPR
6 glyoxylate metabolic process GO:0046487 9.16 AGXT GRHPR
7 lactation GO:0007595 9.13 APRT VDR XDH
8 excretion GO:0007588 8.8 CLCN5 GRHPR UMOD

Molecular functions related to Nephrolithiasis, Calcium Oxalate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.43 AGXT AMBP CASR GRHPR SLC34A1 XDH
2 amino acid binding GO:0016597 9.26 AGXT CASR
3 transferase activity, transferring phosphorus-containing groups GO:0016772 9.16 CKB CKM
4 creatine kinase activity GO:0004111 8.62 CKB CKM

Sources for Nephrolithiasis, Calcium Oxalate

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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