FRG1, FSHD region gene 1, 2483

N. diseases: 44; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		0.100 Biomarker phenotype HPO
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.100 Biomarker disease HPO
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.010 AlteredExpression disease BEFREE FRG1 expression is reduced in prostate adenocarcinoma tissue. 30975102 2019
CUI: C0241423
Disease: Atrophy of tongue
Atrophy of tongue 		0.100 Biomarker disease HPO
CUI: C0231616
Disease: Beevor's sign
Beevor's sign 		0.100 Biomarker phenotype HPO
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		0.100 Biomarker phenotype HPO
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE FRG1 which affects angiogenesis and cell migration in Xenopus, can be a potential player in tumorigenesis. 30975102 2019
CUI: C1837352
Disease: Childhood onset
Childhood onset 		0.100 Biomarker phenotype HPO
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker phenotype HPO
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 GeneticVariation disease BEFREE The terminal deletion in 4q35.2 contains other OMIM genes (FRG1, FRG2 and DBET); moreover, the 4q region is reported as a susceptibility locus for Crohn's disease, diagnosed in the proband's father. 26645620 2015
CUI: C0162285
Disease: Edema of eyelid
Edema of eyelid 		0.100 Biomarker phenotype HPO
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		0.100 Biomarker disease HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.100 Biomarker disease HPO
CUI: C1834673
Disease: Facioscapulohumeral muscular dystrophy 1a
Facioscapulohumeral muscular dystrophy 1a 		0.300 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C0024003
Disease: Lordosis
Lordosis 		0.100 Biomarker phenotype HPO
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 Biomarker disease BEFREE In this study, we investigated the role of FRG1 in prostate cancer progression. 30975102 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation group BEFREE Recurrently mutated cancer driver genes included FRG1 (6/6), CDC27, NCOR1, PRSS1 (5/6), AHCTF1, MUC20, PABPC1, and PABPC3 (4/6). 29571661 2018
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		0.100 Biomarker phenotype HPO
CUI: C0026640
Disease: Mouth Neoplasms
Mouth Neoplasms 		0.010 AlteredExpression group BEFREE These findings suggest that reduction in FRG1 expression in gastric, colon and oral cavity tumor might have a role in tumor progression, by regulating cell migration and invasiveness. 28947680 2017
CUI: C0234958
Disease: Muscle degeneration
Muscle degeneration 		0.010 AlteredExpression disease BEFREE Previous work has suggested that muscle degeneration in FSHD results from increased expression of genes proximal to the deletion, including FRG1. 17151338 2007
CUI: C0877009
Disease: Muscle fibrosis
Muscle fibrosis 		0.010 Biomarker phenotype BEFREE In the current study, FRG1 mice overexpressing FHL1 showed an improvement in the dystrophic phenotype, including a reduced spinal kyphosis, increased muscle mass and myofiber size, and decreased muscle fibrosis. 25695429 2015
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.030 Biomarker disease BEFREE Muscular dystrophy candidate gene FRG1 is critical for muscle development. 19097195 2009