Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.700 GermlineCausalMutation ORPHANET Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. 24456159

2014

Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.700 Biomarker GENOMICS_ENGLAND Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. 11090342

2001

Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.700 Biomarker HPO

Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.700 Biomarker CTD_human

Entrez Id: 5307
Gene Symbol: PITX1
PITX1
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.310 GeneticVariation BEFREE The findings demonstrate that mutations in PITX1 can cause a broad spectrum of isolated lower-limb malformations including clubfoot, deficiency of long bones, and mirror-image polydactyly. 22258522

2012

Entrez Id: 5307
Gene Symbol: PITX1
PITX1
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.310 ChromosomalRearrangement ORPHANET The findings demonstrate that mutations in PITX1 can cause a broad spectrum of isolated lower-limb malformations including clubfoot, deficiency of long bones, and mirror-image polydactyly. 22258522

2012

Entrez Id: 9001
Gene Symbol: HAP1
HAP1
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.020 GeneticVariation BEFREE Although no SNPs in THBS2 were associated with LSS, haplotypes (HAP4 and HAP5) were significantly associated with progression of LSS in the Korean population, whereas another haplotype (HAP1) may play a protective role against LSS development. 23807322

2014

Entrez Id: 9001
Gene Symbol: HAP1
HAP1
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.020 GeneticVariation BEFREE Although no SNPs in COL9A2 were associated with LSS, a COL9A2 haplotype (HAP2) was significantly associated with LSS in the Korean population, whereas another haplotype (HAP4) may play a protective role against LSS development. 21228751

2011

Entrez Id: 145282
Gene Symbol: MIPOL1
MIPOL1
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.010 Biomarker BEFREE The MIPOL1 tumor-suppressive effect can only be observed in the WT MIPOL1-expressing cells. 31609475

2020

Entrez Id: 7908
Gene Symbol: EOS
EOS
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.010 Biomarker BEFREE Following the data collection on demographic and Health-related quality of life (HRQOL) by ODI and SRS-22, radiologic measurement by EOS system and MRI examination including lumbar spinal stenosis (LSS), facet angle, and segmental instability defined by facet opening were performed. 31839389

2019

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.010 AlteredExpression BEFREE In this study, we investigate the association between P16 and S100 expression and the fibrosis of the hypertrophic LF in LSS. 31638980

2019

Entrez Id: 6285
Gene Symbol: S100B
S100B
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.010 AlteredExpression BEFREE In this study, we investigate the association between P16 and S100 expression and the fibrosis of the hypertrophic LF in LSS. 31638980

2019

Entrez Id: 115482713
Gene Symbol: H3P10
H3P10
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.010 AlteredExpression BEFREE In this study, we investigate the association between P16 and S100 expression and the fibrosis of the hypertrophic LF in LSS. 31638980

2019

Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.010 Biomarker BEFREE Elastin degradation and fibrosis of the LF in the DLSS patients is more severe compared with the SLSS and LDH patients. 31638980

2019

Entrez Id: 450095
Gene Symbol: PLF
PLF
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.010 Biomarker BEFREE Exploration on PLIF on LSS and HBL has been reported before while the comparison on total blood loss (TBL), especially HBL of PLIF or PLF on LSS between patients with RA and without RA has not been studied. 30985568

2019

Entrez Id: 268
Gene Symbol: AMH
AMH
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.010 Biomarker BEFREE Impact of sagittal imbalance correction on clinical outcomes in patients undergoing MIS-TLIF for LSS. 31039493

2019

Entrez Id: 6271
Gene Symbol: S100A1
S100A1
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.010 AlteredExpression BEFREE In this study, we investigate the association between P16 and S100 expression and the fibrosis of the hypertrophic LF in LSS. 31638980

2019

Entrez Id: 7124
Gene Symbol: TNF
TNF
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.010 GeneticVariation BEFREE The genotypic distribution for the TNF-α promoter -308 G/A position was observed to be nonsignificant and mildly associated during MIP (OR = 1.4) and in WWM (OR = 1.2). 29602073

2018

Entrez Id: 407021
Gene Symbol: MIR29A
MIR29A
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.010 AlteredExpression BEFREE The expression levels of miR‑29a in plasma and intervertebral disc tissue of patients with LSS were significantly lower in patients with LSS compared with in patients with LDH, as well as healthy controls. 29749498

2018

Entrez Id: 4135
Gene Symbol: MAP6
MAP6
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.010 Biomarker BEFREE Both the Superion and X-STOP interspinous spacers can relieve symptoms of LSS. 29499734

2018

Entrez Id: 3553
Gene Symbol: IL1B
IL1B
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.010 Biomarker BEFREE In the third trimester, high IL-1β was sustained in the MIP group and healthy pregnancies acquired a high TNF-α level. 29602073

2018

Entrez Id: 4318
Gene Symbol: MMP9
MMP9
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.010 AlteredExpression BEFREE Conversely, the protein expression levels of MMP9 and ADAMTS5 were significantly higher in patients with LSS compared with patients with LDH, as well as healthy controls. 29749498

2018

Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.010 AlteredExpression BEFREE Western blotting and immunofluorescence showed that LSS significantly induced AT1R expression in a time-dependent manner. 28518223

2018

Entrez Id: 3569
Gene Symbol: IL6
IL6
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.010 AlteredExpression BEFREE For the first time, a high level of IL-6 was observed in the first trimester of MIP and high IL-1β in healthy pregnancies. 29602073

2018

Entrez Id: 3479
Gene Symbol: IGF1
IGF1
CUI: C1851100
Disease: LAURIN-SANDROW SYNDROME
LAURIN-SANDROW SYNDROME
0.010 PosttranslationalModification BEFREE First, the IGF-1, phosphorylation of IGF-1 receptor (pIGF-1R), phosphorylation of AKT (pAKT), phosphorylation of S6(pS6), collagen I and collagen III expression levels were examined via immunohistochemistry and Western blotting in LF tissues from patients with LSS or Non-LSS. 30016763

2018