Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3549
Gene Symbol: IHH
IHH
0.960 GeneticVariation disease BEFREE Brachydactyly type A1 (BDA1, OMIM 112500) is a rare inherited malformation characterized primarily by shortness or absence of middle bones of fingers and toes. 30651074 2019
Entrez Id: 3549
Gene Symbol: IHH
IHH
0.960 GeneticVariation disease BEFREE None of them have classic features of brachydactyly type A1, which was previously associated with IHH mutations. 29155992 2018
Entrez Id: 3549
Gene Symbol: IHH
IHH
0.960 Biomarker disease GENOMICS_ENGLAND Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions. 25959774 2015
Entrez Id: 3549
Gene Symbol: IHH
IHH
0.960 Biomarker disease GENOMICS_ENGLAND Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. 21167467 2011
Entrez Id: 3549
Gene Symbol: IHH
IHH
0.960 GeneticVariation disease UNIPROT Heterozygous missense mutations in the Indian Hedgehog (IHH) gene have been identified as a cause of BDA1; however, the biochemical consequences of these mutations are unclear. 21537345 2011
Entrez Id: 3549
Gene Symbol: IHH
IHH
0.960 GeneticVariation disease BEFREE Heterozygous missense mutations in the Indian Hedgehog (IHH) gene have been identified as a cause of BDA1; however, the biochemical consequences of these mutations are unclear. 21537345 2011
Entrez Id: 3549
Gene Symbol: IHH
IHH
0.960 GeneticVariation disease BEFREE Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene. 19464397 2009
Entrez Id: 3549
Gene Symbol: IHH
IHH
0.960 Biomarker disease MGD A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range. 19252479 2009
Entrez Id: 3549
Gene Symbol: IHH
IHH
0.960 Biomarker disease GENOMICS_ENGLAND Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. 12632327 2003
Entrez Id: 3549
Gene Symbol: IHH
IHH
0.960 GeneticVariation disease BEFREE A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved. 12384778 2002
Entrez Id: 3549
Gene Symbol: IHH
IHH
0.960 GeneticVariation disease UNIPROT A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved. 12384778 2002
Entrez Id: 3549
Gene Symbol: IHH
IHH
0.960 GeneticVariation disease BEFREE Brachydactyly type A-1 (BDA-1; MIM 112500) is characterized by shortening or missing of the middle phalanges (Fig.1a). 11455389 2001
Entrez Id: 3549
Gene Symbol: IHH
IHH
0.960 GermlineCausalMutation disease ORPHANET Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. 11455389 2001
Entrez Id: 3549
Gene Symbol: IHH
IHH
0.960 GeneticVariation disease UNIPROT Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. 11455389 2001
Entrez Id: 3549
Gene Symbol: IHH
IHH
0.960 CausalMutation disease CLINVAR
Entrez Id: 3549
Gene Symbol: IHH
IHH
0.960 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3549
Gene Symbol: IHH
IHH
0.960 Biomarker disease CTD_human
Entrez Id: 8200
Gene Symbol: GDF5
GDF5
0.510 Biomarker disease BEFREE These results demonstrate that one mutation in the overlapping interface of antagonist and receptor binding site in GDF5 can lead to a GDF5 variant with pathophysiological relevance for both, BDA1 and SYNS2 development. 24098149 2013
Entrez Id: 8200
Gene Symbol: GDF5
GDF5
0.510 GermlineCausalMutation disease ORPHANET Mutations in GDF5 presenting as semidominant brachydactyly A1. 20683927 2010
Entrez Id: 8200
Gene Symbol: GDF5
GDF5
0.510 Biomarker disease GENOMICS_ENGLAND A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type. 2703235 1989
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
0.310 GermlineCausalMutation disease ORPHANET Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. 25758993 2015
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
0.310 GeneticVariation disease BEFREE Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. 25758993 2015
Entrez Id: 6469
Gene Symbol: SHH
SHH
0.200 Biomarker disease MGD An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. 15841179 2005
Entrez Id: 6469
Gene Symbol: SHH
SHH
0.200 Biomarker disease MGD Synergistic interactions between two skeletal mutations in mice: individual and combined effects of the semidominants cleidocranial dysplasia (Ccd) and short digits (Dsh). 8270769 1994
Entrez Id: 2735
Gene Symbol: GLI1
GLI1
0.010 GeneticVariation disease BEFREE p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation. 30651074 2019