Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
0.120 CausalMutation disease CLINVAR
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
0.100 CausalMutation disease CLINVAR
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
0.100 CausalMutation disease CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
0.100 CausalMutation disease CLINVAR
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
0.100 CausalMutation disease CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
0.120 AlteredExpression disease BEFREE Triphalangeal thumb‑polysyndactyly syndrome (TPT‑PS) is an autosomal dominant disorder with complete penetrance and a variable expression consisting of opposable triphalangeal thumbs, duplication of the distal thumb phalanx, pre‑axial polydactyly and duplication of the big toes (hallux). 28035386 2017
Entrez Id: 6469
Gene Symbol: SHH
SHH
0.120 AlteredExpression disease BEFREE Triphalangeal thumb‑polysyndactyly syndrome (TPT‑PS) is an autosomal dominant disorder with complete penetrance and a variable expression consisting of opposable triphalangeal thumbs, duplication of the distal thumb phalanx, pre‑axial polydactyly and duplication of the big toes (hallux). 28035386 2017
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
0.010 AlteredExpression disease BEFREE TPT significantly decreased the expression of TNF-α and IL-1β induced by LPS in THP-1 cells. 30691855 2019
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.010 AlteredExpression disease BEFREE TPT significantly decreased the expression of TNF-α and IL-1β induced by LPS in THP-1 cells. 30691855 2019
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
0.010 AlteredExpression disease BEFREE Microarray results showed that TPT significantly increased expression of 958 genes and decreased expression of 1400 genes in THP-1 cells upon LPS stimulation. 30691855 2019
Entrez Id: 23590
Gene Symbol: PDSS1
PDSS1
0.010 AlteredExpression disease BEFREE Triphalangeal thumb‑polysyndactyly syndrome (TPT‑PS) is an autosomal dominant disorder with complete penetrance and a variable expression consisting of opposable triphalangeal thumbs, duplication of the distal thumb phalanx, pre‑axial polydactyly and duplication of the big toes (hallux). 28035386 2017
Entrez Id: 4982
Gene Symbol: TNFRSF11B
TNFRSF11B
0.010 AlteredExpression disease BEFREE In conclusion, ZLN and TPT treatments are safe on carotid walls in osteoporotic women with subclinical atherosclerosis; circulating OPG and OPN are not affected by long-term anti-osteoporotic treatments and do not correlate with CA-IMT. 30791743 2019
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.010 AlteredExpression disease BEFREE Microarray results showed that TPT significantly increased expression of 958 genes and decreased expression of 1400 genes in THP-1 cells upon LPS stimulation. 30691855 2019
Entrez Id: 6138
Gene Symbol: RPL15
RPL15
0.400 Biomarker disease HPO
Entrez Id: 6138
Gene Symbol: RPL15
RPL15
0.400 Biomarker disease GENOMICS_ENGLAND Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 23812780 2013
Entrez Id: 6223
Gene Symbol: RPS19
RPS19
0.300 Biomarker disease GENOMICS_ENGLAND RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. 15384984 2004
Entrez Id: 6223
Gene Symbol: RPS19
RPS19
0.300 Biomarker disease GENOMICS_ENGLAND Autosomal dominant transmission of congenital erythroid hypoplastic anemia with radial abnormalities. 1746615 1991
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
0.120 Biomarker disease HPO
Entrez Id: 6469
Gene Symbol: SHH
SHH
0.120 Biomarker disease HPO
Entrez Id: 51339
Gene Symbol: DACT1
DACT1
0.100 Biomarker disease HPO
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
0.100 Biomarker disease HPO
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
0.100 Biomarker disease HPO
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
0.100 Biomarker disease HPO
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
0.100 Biomarker disease HPO
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
0.100 Biomarker disease HPO