Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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