×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
0.120
GeneticVariation
disease
BEFREE
Follow-up with whole-exome sequencing analysis revealed a mutation c.2032G>A (p.Gly678Arg ) in the COL2A1 gene (NCBI Reference Sequence: NM_001844.4), which co-segregated with the disease phenotype in this family, manifested by severe hip dysplasia and osteoarthritis.
30740902
2019
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
0.120
GeneticVariation
disease
BEFREE
The literature documents numerous private mutations in COL2A1 associated with diverse clinical phenotypes including bilateral hip dysplasia and premature osteoarthritis.
21442341
2011
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
0.120
GeneticVariation
disease
CLINVAR
×
Entrez Id:
55325
Gene Symbol:
UFSP2
UFSP2
0.110
CausalMutation
disease
CLINVAR
Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.
28892125
2018
×
Entrez Id:
55325
Gene Symbol:
UFSP2
UFSP2
0.110
GeneticVariation
disease
BEFREE
Mutagenesis studies were carried out to provide the structural basis for understanding the loss of catalytic activity observed in a recently identified UfSP2 mutation that is associated with an autosomal dominant form of hip dysplasia .
21228277
2011
×
Entrez Id:
55325
Gene Symbol:
UFSP2
UFSP2
0.110
Biomarker
disease
HPO
×
Entrez Id:
8216
Gene Symbol:
LZTR1
LZTR1
0.100
CausalMutation
disease
CLINVAR
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
29469822
2018
×
Entrez Id:
2186
Gene Symbol:
BPTF
BPTF
0.100
CausalMutation
disease
CLINVAR
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
28942966
2017
×
Entrez Id:
51053
Gene Symbol:
GMNN
GMNN
0.100
GeneticVariation
disease
CLINVAR
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
26637980
2015
×
Entrez Id:
6531
Gene Symbol:
SLC6A3
SLC6A3
0.100
CausalMutation
disease
CLINVAR
Genetic mapping and exome sequencing identify variants associated with five novel diseases.
22279524
2012
×
Entrez Id:
55835
Gene Symbol:
CENPJ
CENPJ
0.100
Biomarker
disease
HPO
×
Entrez Id:
26276
Gene Symbol:
VPS33B
VPS33B
0.100
Biomarker
disease
HPO
×
Entrez Id:
1062
Gene Symbol:
CENPE
CENPE
0.100
Biomarker
disease
HPO
×
Entrez Id:
23299
Gene Symbol:
BICD2
BICD2
0.100
Biomarker
disease
HPO
×
Entrez Id:
65082
Gene Symbol:
VPS33A
VPS33A
0.100
Biomarker
disease
HPO
×
Entrez Id:
11107
Gene Symbol:
PRDM5
PRDM5
0.100
Biomarker
disease
HPO
×
Entrez Id:
1298
Gene Symbol:
COL9A2
COL9A2
0.100
Biomarker
disease
HPO
×
Entrez Id:
55777
Gene Symbol:
MBD5
MBD5
0.100
Biomarker
disease
HPO
×
Entrez Id:
22827
Gene Symbol:
PUF60
PUF60
0.100
Biomarker
disease
HPO
×
Entrez Id:
59341
Gene Symbol:
TRPV4
TRPV4
0.100
Biomarker
disease
HPO
×
Entrez Id:
55209
Gene Symbol:
SETD5
SETD5
0.100
Biomarker
disease
HPO
×
Entrez Id:
25836
Gene Symbol:
NIPBL
NIPBL
0.100
Biomarker
disease
HPO
×
Entrez Id:
2535
Gene Symbol:
FZD2
FZD2
0.100
Biomarker
disease
HPO
×
Entrez Id:
3207
Gene Symbol:
HOXA11
HOXA11
0.100
Biomarker
disease
HPO
×
Entrez Id:
8200
Gene Symbol:
GDF5
GDF5
0.100
Biomarker
disease
HPO