Gene: HPS4 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 89781
Gene Symbol: HPS4
HPS4 		0.070 GeneticVariation group BEFREE Our results demonstrate the association between a novel frameshift mutation in HPS4 and severe PF with poor prognosis in HPS is presented. 31415434 2019
Entrez Id: 89781
Gene Symbol: HPS4
HPS4 		0.070 Biomarker group BEFREE Patients with HPS-1, HPS-2, and HPS-4 tend to develop pulmonary fibrosis in Puerto Rico; 100% of patients with HPS-1 develop HPS-PF. 27529121 2016
Entrez Id: 89781
Gene Symbol: HPS4
HPS4 		0.070 GeneticVariation group BEFREE The two patients with HPS were homozygous for nonsense mutation (T/T) for the c.541C>T (rs119471022) in the HPS4 gene, which is mapped to human chromosome 22q12.1. 23563589 2013
Entrez Id: 89781
Gene Symbol: HPS4
HPS4 		0.070 Biomarker group BEFREE We conclude that pulmonary fibrosis occurs as part of HPS-4 and that HPS should be considered in all ethnic groups. 15108212 2004
Entrez Id: 89781
Gene Symbol: HPS4
HPS4 		0.070 GeneticVariation group BEFREE Four genes causing HPS in humans (HPS1-HPS4) are known, and at least 15 nonallelic mutations cause HPS in the mouse. 12576321 2003
Entrez Id: 89781
Gene Symbol: HPS4
HPS4 		0.070 Biomarker group BEFREE We have identified and found mutations of the human le homolog, HPS4, in a number of non-Puerto Rican individuals with HPS, establishing HPS4 as an important HPS locus in humans. 11836498 2002
Entrez Id: 89781
Gene Symbol: HPS4
HPS4 		0.070 Biomarker group BEFREE Four human genes (HPS1, ADTB3A, HPS3, HPS4) are associated with four subtypes of HPS.The most common is HPS-1. 12442288 2002