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CCAL2
MCID: CHN022
MIFTS: 39

Chondrocalcinosis 2 (CCAL2)

Categories: Bone diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Chondrocalcinosis 2

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MalaCards integrated aliases for Chondrocalcinosis 2:

Name: Chondrocalcinosis 2 57 20 73 13 6
Calcium Pyrophosphate Arthropathy 57 20 73 71
Calcium Pyrophosphate Dihydrate Deposition Disease 57 73 54
Familial Articular Chondrocalcinosis 20 73 36
Calcium Gout 57 20 73
Ccal2 57 20 73
Cppdd 57 20 73
Calcium Pyrophosphate Dihydrate Deposition 54 71
Chondrocalcinosis, Familial Articular 57 73
Chondrocalcinosis Familial Articular 74 20
Calcium Pyrophosphate Dihydrate Deposition Disease 2; Cppdd2 57
Familial Calcium Pyrophosphate Dihydrate Deposition Disease 20
Calcium Pyrophosphate Dihydrate Deposition Disease; Cppdd 57
Calcium Pyrophosphate Dihydrate Deposition Disease 2 57
Calcium Pyrophosphate Arthropathy, Familial 20
Chondrocalcinosis, Type 2 39
Calcium Gout, Familial 20
Pseudogout, Familial 20
Chondrocalcinosis 44
Cppdd2 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
age of onset third decade
allelic to craniometaphyseal dysplasia


HPO:

31
chondrocalcinosis 2:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 118600
KEGG 36 H01236
MeSH 44 D002805
MedGen 41 C0856830
UMLS 71 C0242217 C0856830
Sources

Summaries for Chondrocalcinosis 2

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GARD : 20 Chondrocalcinosis 2 is a rare disease characterized by the accumulation of calcium pyrophosphate dihydrate (CPP) crystals in and around the joints. A buildup of these crystals can lead to joint pain and damage that is progressive (worsens over time). Signs and symptoms of the disease include chronic joint pain or sudden, recurrent episodes of pain, as well as stiffness or swelling of the joints. Chondrocalcinosis 2 is actually a familial form of chondrocalcinosis (also known as calcium pyrophosphate deposition disease or CPPD), which is caused by a similar buildup of CPP crystals but is associated with the aging process. The age-related chondrocalcinosis is quite common, whereas chondrocalcinosis 2 is not. In addition, people with chondrocalcinosis 2 are more likely to have symptoms that develop earlier in adulthood than the age-related form.. Chondrocalcinosis 2 is caused by changes in the ANKH gene. The disease is inherited in an autosomal dominant manner. Chondrocalcinosis 2 is diagnosed based on imaging such as X-rays. The diagnosis can be confirmed with genetic testing of the ANKH gene. Treatment may include the use of corticosteroids, pain relievers, and physical therapy.

MalaCards based summary : Chondrocalcinosis 2, also known as calcium pyrophosphate arthropathy, is related to familial calcium pyrophosphate deposition and chondrocalcinosis. An important gene associated with Chondrocalcinosis 2 is ANKH (ANKH Inorganic Pyrophosphate Transport Regulator). The drugs Prednisone and Colchicine have been mentioned in the context of this disorder. Affiliated tissues include b cells, and related phenotypes are osteoarthritis and arthropathy

OMIM® : 57 Chondrocalcinosis, or cartilage calcification, is a common condition that usually results from deposition of crystals of calcium pyrophosphate dihydrate (CPPD) in articular hyaline and fibro-cartilage. CPPD crystal deposition may be asymptomatic or associated with characteristic acute attacks ('pseudogout') or chronic arthritis. It can be detected radiographically. Chondrocalcinosis occurs in 3 forms: a primary hereditary form (e.g., CCAL2); a form associated with metabolic disorders (e.g., hyperparathyroidism, hemochromatosis, and hypomagnesemia); and a sporadic form, which may in some cases represent the hereditary form (summary by Hughes et al., 1995 and Richette et al., 2009). (118600) (Updated 05-Mar-2021)

KEGG : 36 Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue. Although most cases are sporadic, rare familial forms have been linked to human chromosomes 8 (CCAL1) or 5p (CCAL2). It has been suggested that mutations in the ANKH gene, which is located on the chromosome 5p, are one cause of chondrocalcinosis.

UniProtKB/Swiss-Prot : 73 Chondrocalcinosis 2: Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue. CCAL2 inheritance is autosomal dominant.

Wikipedia : 74 Calcium pyrophosphate dihydrate (CPPD) crystal deposition disease, also known as pseudogout and... more...

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Related Diseases for Chondrocalcinosis 2

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Diseases in the Chondrocalcinosis family:

Chondrocalcinosis 2 Chondrocalcinosis Due to Apatite Crystal Deposition
Chondrocalcinosis 1

Diseases related to Chondrocalcinosis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 131)
# Related Disease Score Top Affiliating Genes
1 familial calcium pyrophosphate deposition 31.4 OTULIN ANKH
2 chondrocalcinosis 29.3 OTULIN ANKH
3 craniometaphyseal dysplasia, autosomal dominant 28.8 OTULIN ANKH
4 chondrocalcinosis 1 11.7
5 chondrocalcinosis due to apatite crystal deposition 11.2
6 hypocalciuric hypercalcemia, familial, type i 11.0
7 hypocalciuric hypercalcemia, familial, type ii 11.0
8 familial hypocalciuric hypercalcemia 10.9
9 hypomagnesemia 2, renal 10.9
10 hypocalciuric hypercalcemia, familial, type iii 10.9
11 primary hypomagnesemia 10.9
12 plica syndrome 10.5
13 synovitis 10.5
14 arthropathy 10.5
15 chondrosarcoma 10.4
16 hyperparathyroidism 10.4
17 hypothyroidism 10.4
18 end stage renal disease 10.4
19 primary hyperparathyroidism 10.3
20 carpal tunnel syndrome 10.2
21 temporal arteritis 10.2
22 hemochromatosis, type 1 10.2
23 gitelman syndrome 10.2
24 hypophosphatemic rickets, x-linked recessive 10.2
25 tendinitis 10.2
26 fibroma 10.2
27 osteomyelitis 10.2
28 rickets 10.2
29 epidural abscess 10.2
30 calcific tendinitis 10.2
31 ankylosis 10.2
32 acromegaly 10.2
33 chondroma 10.2
34 tenosynovial giant cell tumor 10.2
35 paraplegia 10.2
36 septic arthritis 10.2
37 osteoarthritis 10.2
38 arthritis 10.2
39 tenosynovitis 10.2
40 crystal arthropathies 10.2
41 spasticity 10.2
42 calcifying aponeurotic fibroma 10.2
43 calcinosis 10.2
44 hypokalemia 10.2
45 hypophosphatasia 10.2
46 wilson disease 10.2
47 mammary paget's disease 10.2
48 hyperostosis 10.1
49 inflammatory spondylopathy 10.1
50 exostosis 10.1

Graphical network of the top 20 diseases related to Chondrocalcinosis 2:



Diseases related to Chondrocalcinosis 2
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Symptoms & Phenotypes for Chondrocalcinosis 2

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Human phenotypes related to Chondrocalcinosis 2:

31
# Description HPO Frequency HPO Source Accession
1 osteoarthritis 31 HP:0002758
2 arthropathy 31 HP:0003040
3 polyarticular chondrocalcinosis 31 HP:0005017

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Limbs:
osteoarthritis
arthropathy
polyarticular chondrocalcinosis (cartilage calcification)
calcium pyrophosphate dihydrate (cppd) crystal deposition (knee, symphysis pubis, wrist)
pseudoosteoarthritis
more

Clinical features from OMIM®:

118600 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Chondrocalcinosis 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.62 ANKH OTULIN
Sources

Drugs & Therapeutics for Chondrocalcinosis 2

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Drugs for Chondrocalcinosis 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
2
Colchicine Approved Phase 3 64-86-8 6167 2833
3
Povidone Approved Phase 3 9003-39-8 131751496
4 Calcium, Dietary Phase 3
5 Anti-Inflammatory Agents Phase 3
6 Hormones Phase 3
7 Antimitotic Agents Phase 3
8 Hormone Antagonists Phase 3
9 Tubulin Modulators Phase 3
10 glucocorticoids Phase 3
11 Antirheumatic Agents Phase 3
12 Antineoplastic Agents, Hormonal Phase 3
13
Calcium Nutraceutical Phase 3 7440-70-2 271
14
Probenecid Approved, Investigational Early Phase 1 57-66-9 4911

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Prospective, Non-comparative, Single Centre Study to Determine the Performance & Survivorship of the SIGMA HP® PARTIAL KNEE SYSTEM. Completed NCT01529099 Phase 4
2 Colchicine or Prednisone for the Treatment of Acute Calcium Pyrophosphate Deposition (CPPD) Arthritis: Open-label, Randomized, Multicenter, Equivalence Trial of Efficacy and Safety Recruiting NCT03128905 Phase 3 Colchicine opocalcium 1mg;Prednisone : Cortancyl 20mg
3 Study of the Role of Acid Sensing Ion Channels (ASICs) in Human Inflammatory Pain Unknown status NCT01867840
4 Appraisal of the Diagnostic Rentability of Thorough Analytical Screening Searching Associated Conditions in Patients Newly Diagnosed With Calcium Pyrophosphate Dihydrate Deposition Disease Completed NCT00453128
5 Concordance Entre l'échographie du Genou et la Radiographie Standard Dans la détection Des Calcifications Dans le Cadre de la Chondrocalcinose Articulaire Completed NCT00797537
6 OMERACT Core Domain Set Selection for Calcium Pyrophosphate Deposition (CPPD): Exploring Patient and Stakeholder Perspectives on Outcome Domains Completed NCT04176003
7 Regulatory B Cells in Inflammatory Rheumatisms, Systemic Auto-immune Diseases in Adults and Biomarkers of Response to Biologic Treatments Recruiting NCT01642706
8 ANK-dependent ATP Efflux Causes Calcium Pyrophosphate Deposition in Cartilage Recruiting NCT02243631 Early Phase 1 Probenecid
9 Data Collection for the Constitution of an Observatory for Patients Suffering From Microcrystalline Rheumatism With Morphological Phenotyping Not yet recruiting NCT04695028

Search NIH Clinical Center for Chondrocalcinosis 2

Cochrane evidence based reviews: chondrocalcinosis

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Genetic Tests for Chondrocalcinosis 2

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Anatomical Context for Chondrocalcinosis 2

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MalaCards organs/tissues related to Chondrocalcinosis 2:

40
B Cells
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Publications for Chondrocalcinosis 2

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Articles related to Chondrocalcinosis 2:

(show all 44)
# Title Authors PMID Year
1
Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease. 57 6 54 61
13130483 2003
2
Mutations in ANKH cause chondrocalcinosis. 61 54 6 57
12297987 2002
3
Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation. 57 6
19449425 2009
4
Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. 57 6
12297989 2002
5
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. 6 57
11326272 2001
6
Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. 6 57
9915952 1999
7
Localisation of a gene for chondrocalcinosis to chromosome 5p. 57 6
8528213 1995
8
Dominant craniometaphyseal dysplasia--a family study over five generations. 6 57
2712793 1989
9
An update on the epidemiology of calcium pyrophosphate dihydrate crystal deposition disease. 57
19398486 2009
10
Familial chondrocalcinosis due to calcium pyrophosphate dihydrate crystal deposition in English families. 57
1846765 1991
11
Familial articular chondrocalcinosis in Spain. 57
2383079 1990
12
Hereditary chondrocalcinosis in an Ashkenazi Jewish family. 57
2383078 1990
13
Hereditary articular chondrocalcinosis. Clinical and genetic features in 13 pedigrees. 57
3422129 1988
14
Familial chondrocalcinosis in the Spanish population. 57
3735284 1986
15
[Familial articular chondrocalcinosis]. 57
2938143 1986
16
Hereditary chondrocalcinosis in a Mexican-American family. 57
6639697 1983
17
Hereditary pyrophosphate arthropathy (familial articular chondrocalcinosis) in Sweden. 57
6284421 1982
18
Pyrophosphate arthropathy in two Swedish families. 57
6279114 1982
19
Evidence of a generalized metabolic defect in patients with hereditary chondrocalcinosis. Increased inorganic pyrophosphate in cultured fibroblasts and lymphoblasts. 57
6275862 1981
20
Increased pyrophosphate in fibroblasts and lymphoblasts from patients with hereditary diffuse articular chondrocalcinosis. 57
6270793 1981
21
Familial articular chondrocalcinosis in Quebec. 57
7213442 1981
22
Familial chondrocalcinosis. Prevalence in Northern Spain and clinical features in five pedigrees. 57
7370061 1980
23
Hereditary diffuse articular chondrocalcinosis. Dominant manifestation without close linkage with the HLA system in a large pedigree. 57
607388 1977
24
Calcium pyrophosphate dihydrate crystal deposition disease--1975. 57
181010 1976
25
Articular chondrocalcinosis in the Chiloe Islanders. 57
181016 1976
26
Familial chondrocalcinosis in the Chiloe Islands, Chile. 57
168817 1975
27
The articular cartilage in familial chondrocalcinosis. Light and electron microscopic study. 57
4139958 1974
28
A hereditary type of idiopathic articular chondrocalcinosis. Survey of a pedigree. 57
4813649 1974
29
Polyarticular and familial chondrocalcinosis. 57
5423813 1970
30
CHONDROCALCINOSIS (PSEUDOGOUT SYNDROME). A FAMILY STUDY. 57
14132554 1964
31
CHONDROCALCINOSIS. 57
14131670 1964
32
THE ROENTGENOGRAPHIC ASPECTS OF PSEUDOGOUT (ARTICULAR CHONDROCALCINOSIS). AN ANALYSIS OF 20 CASES. 57
14081431 1963
33
Chondrocalcinosis articularis. Section II. Genetic study. 57
13995942 1963
34
The role of ANKH in pathologic mineralization of cartilage. 20
26599446 2016
35
The ANKH gene and familial calcium pyrophosphate dihydrate deposition disease. 61 54
15474385 2004
36
Mutations in osteoprotegerin account for the CCAL1 locus in calcium pyrophosphate deposition disease. 61
29578045 2018
37
The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface. 61
27466194 2016
38
Inorganic pyrophosphate generation by transforming growth factor-beta-1 is mainly dependent on ANK induction by Ras/Raf-1/extracellular signal-regulated kinase pathways in chondrocytes. 54
18034874 2007
39
Role of the progressive ankylosis gene in cartilage mineralization. 54
16462526 2006
40
Familial calcium pyrophosphate dihydrate deposition disease and the ANKH gene. 54
12707589 2003
41
Physical map and characterization of transcripts in the candidate interval for familial chondrocalcinosis at chromosome 5p15.1. 61
10610710 1999
42
[The femoropatellar endoprosthesis--still of value today?]. 61
10441831 1999
43
Early and late occurrences of destructive spondyloarthropathy in haemodialysed patients. 61
2113647 1990
44
[Tophaceous gout and articular chondrocalcinosis (2 recent cases)]. 61
5402741 1969
Sources

Variations for Chondrocalcinosis 2

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ClinVar genetic disease variations for Chondrocalcinosis 2:

6 (show top 50) (show all 200)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ANKH NM_054027.6(ANKH):c.143T>C (p.Met48Thr) SNV Pathogenic 5195 rs121908407 5:14769254-14769254 5:14769145-14769145
2 ANKH ANKH, -11C-T SNV Pathogenic 5196
3 ANKH NM_054027.6(ANKH):c.14C>T (p.Pro5Leu) SNV Pathogenic 5198 rs121908409 5:14871543-14871543 5:14871434-14871434
4 ANKH NM_054027.6(ANKH):c.13C>A (p.Pro5Thr) SNV Pathogenic 5199 rs121908410 5:14871544-14871544 5:14871435-14871435
5 ANKH NM_054027.6(ANKH):c.1165G>A (p.Gly389Arg) SNV Pathogenic 5192 rs28939080 5:14713753-14713753 5:14713644-14713644
6 ANKH NM_054027.6(ANKH):c.13C>T (p.Pro5Ser) SNV Likely pathogenic 974898 5:14871544-14871544 5:14871435-14871435
7 ANKH NM_054027.6(ANKH):c.830C>T (p.Ala277Val) SNV Uncertain significance 988761 5:14746064-14746064 5:14745955-14745955
8 ANKH NM_054027.6(ANKH):c.*256G>A SNV Uncertain significance 907247 5:14711050-14711050 5:14710941-14710941
9 ANKH NM_054027.6(ANKH):c.*147T>A SNV Uncertain significance 907248 5:14711159-14711159 5:14711050-14711050
10 ANKH NM_054027.6(ANKH):c.*96T>C SNV Uncertain significance 907249 5:14711210-14711210 5:14711101-14711101
11 ANKH NM_054027.6(ANKH):c.*5887G>C SNV Uncertain significance 907799 5:14705419-14705419 5:14705310-14705310
12 ANKH NM_054027.6(ANKH):c.*4635A>C SNV Uncertain significance 907853 5:14706671-14706671 5:14706562-14706562
13 ANKH NM_054027.6(ANKH):c.*3554C>T SNV Uncertain significance 907991 5:14707752-14707752 5:14707643-14707643
14 ANKH NM_054027.6(ANKH):c.*5900T>C SNV Uncertain significance 905215 5:14705406-14705406 5:14705297-14705297
15 ANKH NM_054027.6(ANKH):c.*5899A>G SNV Uncertain significance 906804 5:14705407-14705407 5:14705298-14705298
16 ANKH NM_054027.6(ANKH):c.*5062A>G SNV Uncertain significance 905264 5:14706244-14706244 5:14706135-14706135
17 ANKH NM_054027.6(ANKH):c.*4982T>C SNV Uncertain significance 906862 5:14706324-14706324 5:14706215-14706215
18 ANKH NM_054027.6(ANKH):c.*4811A>G SNV Uncertain significance 906863 5:14706495-14706495 5:14706386-14706386
19 ANKH NM_054027.6(ANKH):c.*4777C>A SNV Uncertain significance 906864 5:14706529-14706529 5:14706420-14706420
20 ANKH NM_054027.6(ANKH):c.*2674C>A SNV Uncertain significance 907008 5:14708632-14708632 5:14708523-14708523
21 ANKH NM_054027.6(ANKH):c.97-9C>T SNV Uncertain significance 906666 5:14769309-14769309 5:14769200-14769200
22 ANKH NM_054027.6(ANKH):c.*6368G>A SNV Uncertain significance 906739 5:14704938-14704938 5:14704829-14704829
23 ANKH NM_054027.6(ANKH):c.*6235G>A SNV Uncertain significance 906740 5:14705071-14705071 5:14704962-14704962
24 ANKH NM_054027.6(ANKH):c.897G>A (p.Val299=) SNV Uncertain significance 904824 5:14745997-14745997 5:14745888-14745888
25 ANKH NM_054027.6(ANKH):c.*1894T>C SNV Uncertain significance 907063 5:14709412-14709412 5:14709303-14709303
26 ANKH NM_054027.6(ANKH):c.*1626G>A SNV Uncertain significance 351464 rs760609731 5:14709680-14709680 5:14709571-14709571
27 ANKH NM_054027.6(ANKH):c.*4958T>C SNV Uncertain significance 351409 rs187771198 5:14706348-14706348 5:14706239-14706239
28 ANKH NM_054027.6(ANKH):c.*1058C>T SNV Uncertain significance 351472 rs886060084 5:14710248-14710248 5:14710139-14710139
29 ANKH NM_054027.6(ANKH):c.*4103G>A SNV Uncertain significance 351421 rs181397772 5:14707203-14707203 5:14707094-14707094
30 ANKH NM_054027.6(ANKH):c.*6041T>C SNV Uncertain significance 351391 rs886060066 5:14705265-14705265 5:14705156-14705156
31 ANKH NM_054027.6(ANKH):c.*3962T>C SNV Uncertain significance 351422 rs528418242 5:14707344-14707344 5:14707235-14707235
32 ANKH NM_054027.6(ANKH):c.*3559G>C SNV Uncertain significance 351434 rs886060074 5:14707747-14707747 5:14707638-14707638
33 ANKH NM_054027.6(ANKH):c.*5593G>C SNV Uncertain significance 351404 rs886060070 5:14705713-14705713 5:14705604-14705604
34 ANKH NM_054027.6(ANKH):c.*781T>A SNV Uncertain significance 351481 rs886060086 5:14710525-14710525 5:14710416-14710416
35 ANKH NM_054027.6(ANKH):c.*6205G>A SNV Uncertain significance 351388 rs886060065 5:14705101-14705101 5:14704992-14704992
36 ANKH NM_054027.6(ANKH):c.*2428G>C SNV Uncertain significance 351447 rs886060077 5:14708878-14708878 5:14708769-14708769
37 ANKH NM_054027.6(ANKH):c.*6034A>C SNV Uncertain significance 351392 rs886060067 5:14705272-14705272 5:14705163-14705163
38 ANKH NM_054027.6(ANKH):c.*793A>G SNV Uncertain significance 351480 rs377136068 5:14710513-14710513 5:14710404-14710404
39 ANKH NM_054027.6(ANKH):c.*2770C>T SNV Uncertain significance 351440 rs563898623 5:14708536-14708536 5:14708427-14708427
40 ANKH NM_054027.6(ANKH):c.1071C>T (p.Ile357=) SNV Uncertain significance 351505 rs886060088 5:14716885-14716885 5:14716776-14716776
41 ANKH NM_054027.6(ANKH):c.*2236G>A SNV Uncertain significance 351453 rs201439698 5:14709070-14709070 5:14708961-14708961
42 ANKH NM_054027.6(ANKH):c.*2644G>C SNV Uncertain significance 351444 rs886060076 5:14708662-14708662 5:14708553-14708553
43 ANKH NM_054027.6(ANKH):c.*6012T>C SNV Uncertain significance 351393 rs576051028 5:14705294-14705294 5:14705185-14705185
44 ANKH NM_054027.6(ANKH):c.*5725G>T SNV Uncertain significance 351401 rs187007081 5:14705581-14705581 5:14705472-14705472
45 ANKH NM_054027.6(ANKH):c.*2694T>C SNV Uncertain significance 351443 rs886060075 5:14708612-14708612 5:14708503-14708503
46 ANKH NM_054027.6(ANKH):c.*1354A>G SNV Uncertain significance 351466 rs886060080 5:14709952-14709952 5:14709843-14709843
47 ANKH NM_054027.6(ANKH):c.*1668A>C SNV Uncertain significance 351463 rs886060079 5:14709638-14709638 5:14709529-14709529
48 ANKH NM_054027.6(ANKH):c.-87T>A SNV Uncertain significance 351931 rs886060204 5:14871643-14871643 5:14871534-14871534
49 ANKH NM_054027.6(ANKH):c.313+12G>A SNV Uncertain significance 351557 rs769050375 5:14769072-14769072 5:14768963-14768963
50 ANKH NM_054027.6(ANKH):c.*3386G>A SNV Uncertain significance 351437 rs368727070 5:14707920-14707920 5:14707811-14707811

UniProtKB/Swiss-Prot genetic disease variations for Chondrocalcinosis 2:

73
# Symbol AA change Variation ID SNP ID
1 ANKH p.Met48Thr VAR_017556 rs121908407
2 ANKH p.Pro5Leu VAR_022606 rs121908409
3 ANKH p.Pro5Thr VAR_022607 rs121908410

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Expression for Chondrocalcinosis 2

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Search GEO for disease gene expression data for Chondrocalcinosis 2.
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Pathways for Chondrocalcinosis 2

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GO Terms for Chondrocalcinosis 2

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Sources for Chondrocalcinosis 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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