| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.180 | GeneticVariation | disease | BEFREE | Isolated brachydactyly type E (BDE), characterized by shortened metacarpals and/or metatarsals, consists in a small proportion of patients with Homeobox D13 (HOXD13) or parathyroid-hormone-like hormone (PTHLH) mutations. | 31283647 | 2019 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Disease-causing variants and haploinsufficiency of PTHLH are known to cause brachydactyly type E and short stature. | 26733284 | 2016 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review. | 26640227 | 2016 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Sanger sequencing of PTHLH revealed a novel heterozygous frameshift mutation c.258delC(p.N87Tfs*18) in two affected individuals and one relative manifesting mild brachydactyly. | 26763883 | 2016 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | The PTHLH gene encodes a parathyroid hormone-related protein (PTHrP) that is involved in the regulation of endochondral bone development, and mutations in this gene cause the type E form of brachydactyly. | 25801215 | 2015 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | We studied a family with autosomal-dominant Brachydactyly Type E (BDE) and identified a t(8;12)(q13;p11.2) translocation with breakpoints (BPs) upstream of PTHLH on chromosome 12p11.2 and a disrupted KCNB2 on 8q13. | 20015959 | 2010 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Deletion and point mutations of PTHLH cause brachydactyly type E. | 20170896 | 2010 | ||||
|
0.180 | AlteredExpression | disease | BEFREE | The PTHLH gene within this region encodes a ligand for PTHR1: mutations in the gene encoding this receptor are associated with some cases of Ollier disease, several skeletal dysplasias including Blomstrand, Eiken, and Jansen and down-regulation of PTHLH expression in brachydactyly type E. Our findings suggest that abnormal PTHLH-PTHR1 signaling may underly this unusual form of enchondromatosis and indicate that unlike most cases of Ollier disease it is dominantly inherited. | 21082660 | 2010 | ||||
|
0.180 | Biomarker | disease | HPO |