FGL1, fibrinogen like 1, 2267

N. diseases: 53; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.050 Biomarker disease BEFREE We suggest that the HFREP-1 gene is a new member of the fibrinogen family and that further data on the gene are important for a better understanding of the development of hepatocellular carcinomas. 8390249 1993
CUI: C0242994
Disease: Hantavirus Infections
Hantavirus Infections 		0.100 GeneticVariation group BEFREE Here, we describe characterization of the mouse Hps cDNA and genomic locus, and identification of pathologic Hps gene mutations in ep but not in ru mice, establishing mouse pale ear as an animal model for human HPS. 9158155 1997
CUI: C0242994
Disease: Hantavirus Infections
Hantavirus Infections 		0.100 GeneticVariation group BEFREE A positional cloning strategy using yeast artificial chromosomes spanning the HPS locus was used to identify the HPS gene and its murine counterpart. 9256466 1997
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.080 GeneticVariation disease BEFREE Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. 9182823 1997
CUI: C0242994
Disease: Hantavirus Infections
Hantavirus Infections 		0.100 GeneticVariation group BEFREE Overall, however, we detected mutations in the HPS gene in only about half of non-Puerto Rican patients, and we present evidence that suggests locus heterogeneity for HPS. 9497254 1998
CUI: C0242994
Disease: Hantavirus Infections
Hantavirus Infections 		0.100 GeneticVariation group BEFREE We have now identified a variant HPS cDNA that contains the same 5' sequence as the published HPS gene and a unique 3' sequence. 9579545 1998
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.080 Biomarker disease BEFREE Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: support for the role of the HPS gene product in intracellular trafficking. 9759648 1998
CUI: C0085581
Disease: Restrictive lung disease
Restrictive lung disease 		0.010 GeneticVariation disease BEFREE The 16-bp duplication in exon 15 of HPS, which we found only in Puerto Rican patients, is associated with a broad range of pigmentation and an increased risk of restrictive lung disease in adults. 9562579 1998
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.080 GeneticVariation disease BEFREE Mutations in six genes have been reported to be responsible for different types of oculocutaneous and ocular albinism, including the tyrosinase gene (TYR) and OCA1 (MIM# 203100), the OCA2 gene and OCA2 (MIM# 203200), the tyrosinase-related protein-1 gene (TYRP1) and OCA3 (MIM# 203290), the HPS gene and Hermansky-Pudlak syndrome (MIM# 203300), the CHS gene (CHS1), and Chediak-Higashi syndrome (MIM# 214500), and the X-linked ocular albinism gene and OA1 (MIM#300500). 10094567 1999
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome 		0.010 GeneticVariation disease BEFREE Mutations in six genes have been reported to be responsible for different types of oculocutaneous and ocular albinism, including the tyrosinase gene (TYR) and OCA1 (MIM# 203100), the OCA2 gene and OCA2 (MIM# 203200), the tyrosinase-related protein-1 gene (TYRP1) and OCA3 (MIM# 203290), the HPS gene and Hermansky-Pudlak syndrome (MIM# 203300), the CHS gene (CHS1), and Chediak-Higashi syndrome (MIM# 214500), and the X-linked ocular albinism gene and OA1 (MIM#300500). 10094567 1999
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.010 GeneticVariation disease BEFREE ABSTRACT.: Inherited hypokalemic renal tubulopathies are differentiated into at least three clinical subtypes: (1) the Gitelman variant of Bartter syndrome (GS); (2) hyperprostaglandin E syndrome, the antenatal variant of Bartter syndrome (HPS/aBS); and (3) the classic Bartter syndrome (cBS). 10906158 2000
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		0.010 Biomarker disease BEFREE Hypocalciuria and hypomagnesemia are specific clinical features of Gitelman syndrome, while HPS/aBS is a life-threatening disorder of the newborn with polyhydramnios, premature delivery, hyposthenuria, and nephrocalcinosis. 10906158 2000
CUI: C1846343
Disease: Bartter syndrome, type 3
Bartter syndrome, type 3 		0.010 Biomarker disease BEFREE ABSTRACT.: Inherited hypokalemic renal tubulopathies are differentiated into at least three clinical subtypes: (1) the Gitelman variant of Bartter syndrome (GS); (2) hyperprostaglandin E syndrome, the antenatal variant of Bartter syndrome (HPS/aBS); and (3) the classic Bartter syndrome (cBS). 10906158 2000
CUI: C0220724
Disease: CONSTRICTING BANDS, CONGENITAL
CONSTRICTING BANDS, CONGENITAL 		0.020 Biomarker disease BEFREE We investigated 10 HPS/aBS patients for mutations in the ROMK gene by single-strand conformation polymorphism analysis (SSCA) and direct sequencing. 11318951 2001
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.080 Biomarker disease BEFREE Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. 12847290 2003
CUI: C0220724
Disease: CONSTRICTING BANDS, CONGENITAL
CONSTRICTING BANDS, CONGENITAL 		0.020 Biomarker disease BEFREE The evaluation of different disease-causing mechanisms will be essential for establishing new and more specific therapeutic strategies for HPS/aBS patients. 12911542 2003
CUI: C0242994
Disease: Hantavirus Infections
Hantavirus Infections 		0.100 Biomarker group BEFREE Studies of the molecular functions of HPS proteins will reveal important details of vesicle trafficking and may lead to therapies for HPS. 15170859 2004
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.050 Biomarker disease BEFREE Loss of heterozygosity (LOH) analysis revealed allelic loss of LFIRE-1/HFREP-1 on chromosome 8p22 in 57.1% (24/42) of HCC specimens. 14981537 2004
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 AlteredExpression group BEFREE The reduction of LFIRE-1/HFREP-1 expression by antisense approach enhances cancer cell proliferation and colony formation in soft agar. 14981537 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE Furthermore, the reduction or nonexpression of LFIRE-1/HFREP-1 is significantly associated with the degree of tumor differentiation. 14981537 2004
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 AlteredExpression group BEFREE The reduction of LFIRE-1/HFREP-1 expression by antisense approach enhances cancer cell proliferation and colony formation in soft agar. 14981537 2004
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.080 Biomarker disease BEFREE Hermansky-Pudlak Syndrome-type 3 (HPS-3) is a relatively mild subtype of HPS with minimal cutaneous and ocular depigmentation. 15632015 2005
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.020 Biomarker disease BEFREE Hermansky-Pudlak Syndrome-type 3 (HPS-3) is a relatively mild subtype of HPS with minimal cutaneous and ocular depigmentation. 15632015 2005
CUI: C0242994
Disease: Hantavirus Infections
Hantavirus Infections 		0.100 Biomarker group BEFREE All human HPS genes (HPS1-8) and five genes corresponding to murine HPS models were evaluated. 17041891 2006
CUI: C0242994
Disease: Hantavirus Infections
Hantavirus Infections 		0.100 GeneticVariation group BEFREE This HPS database (HPSD; http://liweilab.genetics.ac.cn/HPSD/) provides integrated, annotatory, and curative data that is distributed in a variety of public databases or predicted by bioinformatics servers for the recently cloned human and mouse HPS genes, as well as for the genes responsible for HPSrelated syndromes, such as ChediakHigashi Syndrome (CHS), Griscelli syndrome (GS), oculocutaneous albinism (OCA), Usher syndrome type 1B (USH1B), and ocular albinism (OA). 16550546 2006