Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518908
rs1057518908
COL2A1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs104893915
rs104893915
SLC26A2
0.030 GeneticVariation BEFREE The most frequent mutation, 862C>T (R279W), is a mild mutation giving the rMED phenotype when homozygous and mostly DTD when compounded; occurrence at a CpG dinucleotide and its panethnic distribution suggest independent recurrence. 11241838

2001
dbSNP: rs104893915
rs104893915
SLC26A2
0.030 GeneticVariation BEFREE A homozygous R279W mutation was recently found in the diastrophic dysplasia sulfate transporter gene, DTDST, in a patient with MED who had a club foot and double-layered patella. 11565064

2001
dbSNP: rs104893915
rs104893915
SLC26A2
0.030 GeneticVariation BEFREE We had not seen a case of homozygosity for c862t (R279W) until we analysed DNA from a 36 year old male with tall-normal stature (180 cm) who asked for genetic counselling for suspected multiple epiphyseal dysplasia. 10465113

1999
dbSNP: rs766335907
rs766335907
COMP
0.020 GeneticVariation BEFREE A homozygous R279W mutation was recently found in the diastrophic dysplasia sulfate transporter gene, DTDST, in a patient with MED who had a club foot and double-layered patella. 11565064

2001
dbSNP: rs766335907
rs766335907
COMP
0.020 GeneticVariation BEFREE We had not seen a case of homozygosity for c862t (R279W) until we analysed DNA from a 36 year old male with tall-normal stature (180 cm) who asked for genetic counselling for suspected multiple epiphyseal dysplasia. 10465113

1999
dbSNP: rs781754383
rs781754383
EGF
0.010 GeneticVariation BEFREE We transfected these contructs into the COS-1 or MCT cells, and the results revealed that the HOA-related matrilin-3 mutation (T298M) leads to a high expression level of growth arrest DNA damage-inducible gene 153 (GADD153, also known as CHOP; an endoplasmic reticulum stress marker), as shown by western blot analysis and does not significantly affect protein secretion, as shown by immunofluorescence staining; however, osteochondroplasia, i.e., MED-related (R116W) and SEMD-related (C299S) mutations lead to both high levels of GADD153 expression and protein trafficking into the cytoplasm and form multiple vacuoles in cells, which in turn leads to insufficient protein secretion. 26499313

2015
dbSNP: rs3776070
rs3776070
SLC26A2
0.010 GeneticVariation BEFREE The homozygous A2092T (T689S) mutation could be one of the mutations in the DTDST gene causing MED. 23934641

2014
dbSNP: rs104893645
rs104893645
MATN3
0.010 GeneticVariation BEFREE Mutant matrilin-3 (V194D) forms non-native disulphide bonded aggregates in the rER of chondrocytes from cell and mouse models of multiple epiphyseal dysplasia (MED). 23956175

2013
dbSNP: rs28936368
rs28936368
COMP
0.010 GeneticVariation BEFREE The results indicate that COMP is the disease susceptibility gene and the c.2152C>T mutation in exon 18 could cause early-onset OA phenotypes in this kindred, which is compatible with a previous report that this mutation also causes a mild form of multiple epiphyseal dysplasia (MED). 21834907

2011