FXR2, FMR1 autosomal homolog 2, 9513

N. diseases: 8; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
0.040 Biomarker disease BEFREE The functions of FXR1P and FXR2P and their possible roles in producing or modulating the phenotype observed in FXS are yet to be identified. 30654445 2019
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
0.040 Biomarker disease BEFREE Both FMRP and FXR2P regulate neurogenesis, a process affected in a number of neurological and neuropsychiatric disorders, including fragile X syndrome. 28204491 2017
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
0.040 Biomarker disease BEFREE Exon trapping identified two known genes from chromosome 17: FMR1L2 (the fragile X mental retardation syndrome like protein 2) and SHBG (human sex hormone-binding globulin). 9195154 1997
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
0.040 Biomarker disease BEFREE FXR1 and FXR2 are thus likely to play important roles in the function of FMR1 and in the pathogenesis of the Fragile X Mental Retardation Syndrome. 7489725 1995
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.010 AlteredExpression disease BEFREE Western blot analyses have shown that the p53/FXR2 protein is indeed expressed in a Down syndrome-related acute megakaryoblastic leukemia cell line, CMK11-5 cells. 16778363 2006
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias
0.010 AlteredExpression disease BEFREE Western blot analyses have shown that the p53/FXR2 protein is indeed expressed in a Down syndrome-related acute megakaryoblastic leukemia cell line, CMK11-5 cells. 16778363 2006
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
0.010 AlteredExpression disease BEFREE The p53/FXR2 protein was expressed at high levels in the cytoplasm, whereas wild-type p53 and FXR2 were localized primarily in the nucleus and in the periphery of the nucleus, respectively. 16778363 2006
Adult Acute Megakaryoblastic Leukemia
0.010 AlteredExpression disease BEFREE Western blot analyses have shown that the p53/FXR2 protein is indeed expressed in a Down syndrome-related acute megakaryoblastic leukemia cell line, CMK11-5 cells. 16778363 2006
Childhood Acute Megakaryoblastic Leukemia
0.010 AlteredExpression disease BEFREE Western blot analyses have shown that the p53/FXR2 protein is indeed expressed in a Down syndrome-related acute megakaryoblastic leukemia cell line, CMK11-5 cells. 16778363 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 AlteredExpression group BEFREE The p53/FXR2 protein was expressed at high levels in the cytoplasm, whereas wild-type p53 and FXR2 were localized primarily in the nucleus and in the periphery of the nucleus, respectively. 16778363 2006
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 AlteredExpression disease BEFREE Western blot analyses have shown that the p53/FXR2 protein is indeed expressed in a Down syndrome-related acute megakaryoblastic leukemia cell line, CMK11-5 cells. 16778363 2006