high pitched voice Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal increase in the pitch (frequency) of the voice. (Human Phenotype Ontology, HP_0001620)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001620
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17 genes associated with the high pitched voice phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
BLM Bloom syndrome, RecQ helicase-like
ERCC4 excision repair cross-complementation group 4
FAM111A family with sequence similarity 111, member A
GHR growth hormone receptor
HSPG2 heparan sulfate proteoglycan 2
MED12 mediator complex subunit 12
ORC4 origin recognition complex, subunit 4
PCNT pericentrin
POC1A POC1 centriolar protein A
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
RBBP8 retinoblastoma binding protein 8
RIN2 Ras and Rab interactor 2
SEPN1 selenoprotein N, 1
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
TRIM37 tripartite motif containing 37