PMID-sentid Pub_year Sent_text compound_name comp_offset prot_official_name organism prot_offset 27875632-2 2017 Myosin heavy chain disorders most commonly result in distal myopathy and cardiomyopathy with or without hearing loss, but a complex phenotype with dHMN, myopathy, hoarseness, and hearing loss was reported in a Korean family with a c.2822G>T mutation in MYH14. dhmn 147-151 myosin heavy chain 14 Homo sapiens 0-6 31630804-2 2020 Missense mutations in the gene encoding small heat shock protein HSPB1 (HSP27) have been associated with hereditary neuropathies including dHMN. dhmn 139-143 Heat shock protein 27 Drosophila melanogaster 72-77 32298515-6 2020 Mutation in the HSPB1 gene was the most common cause of dHMN. dhmn 56-60 heat shock protein family B (small) member 1 Homo sapiens 16-21 31511340-8 2020 CONCLUSION: In conclusion, the homozygous SIGMAR1 c.500A>T mutation causes dHMN of the Jerash type, possibly due to a significant drop of protein levels. dhmn 78-82 sigma non-opioid intracellular receptor 1 Homo sapiens 42-49 28018906-2 2016 To date, 23 genes are thought to be responsible for dHMN, four of which encode chaperones: DNAJB2, which encodes a member of the HSP40/DNAJ co-chaperone family; and HSPB1, HSPB3, and HSPB8, encoding three members of the small heat shock protein family. dhmn 52-56 DnaJ heat shock protein family (Hsp40) member B2 Homo sapiens 91-97 28018906-2 2016 To date, 23 genes are thought to be responsible for dHMN, four of which encode chaperones: DNAJB2, which encodes a member of the HSP40/DNAJ co-chaperone family; and HSPB1, HSPB3, and HSPB8, encoding three members of the small heat shock protein family. dhmn 52-56 DnaJ heat shock protein family (Hsp40) member B1 pseudogene 1 Homo sapiens 129-134 28018906-2 2016 To date, 23 genes are thought to be responsible for dHMN, four of which encode chaperones: DNAJB2, which encodes a member of the HSP40/DNAJ co-chaperone family; and HSPB1, HSPB3, and HSPB8, encoding three members of the small heat shock protein family. dhmn 52-56 DnaJ heat shock protein family (Hsp40) member B6 Homo sapiens 91-95 28018906-2 2016 To date, 23 genes are thought to be responsible for dHMN, four of which encode chaperones: DNAJB2, which encodes a member of the HSP40/DNAJ co-chaperone family; and HSPB1, HSPB3, and HSPB8, encoding three members of the small heat shock protein family. dhmn 52-56 heat shock protein family B (small) member 1 Homo sapiens 165-170 28018906-2 2016 To date, 23 genes are thought to be responsible for dHMN, four of which encode chaperones: DNAJB2, which encodes a member of the HSP40/DNAJ co-chaperone family; and HSPB1, HSPB3, and HSPB8, encoding three members of the small heat shock protein family. dhmn 52-56 heat shock protein family B (small) member 3 Homo sapiens 172-177 28018906-2 2016 To date, 23 genes are thought to be responsible for dHMN, four of which encode chaperones: DNAJB2, which encodes a member of the HSP40/DNAJ co-chaperone family; and HSPB1, HSPB3, and HSPB8, encoding three members of the small heat shock protein family. dhmn 52-56 heat shock protein family B (small) member 8 Homo sapiens 183-188 27573046-3 2016 In the present study, the DCTN1 p.G59S mutation was identified in two unrelated families from a total of 24 Korean families with dHMN, by whole exome sequencing. dhmn 129-133 dynactin subunit 1 Homo sapiens 26-31 21892769-6 2012 A sporadic patient with severe CMT was homozygous for the c.250G > C (p.G84R) HSPB1 mutation which has previously been reported to cause autosomal dominant dHMN. dhmn 156-160 heat shock protein family B (small) member 1 Homo sapiens 78-83