XIST, X inactive specific transcript, 7503

N. diseases: 146; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group BEFREE This review presents the current level of knowledge on the most studied cancer-related lncRNAs, such as the metastasis associated lung adenocarcinoma transcript 1 (MALAT1), the Hox transcript antisense intergenic RNA (HOTAIR), or the X-inactive specific transcript (XIST), as well as more recently discovered forms, and their potential roles in different types of cancer. 30654440 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 GeneticVariation group BEFREE This review presents the current level of knowledge on the most studied cancer-related lncRNAs, such as the metastasis associated lung adenocarcinoma transcript 1 (MALAT1), the Hox transcript antisense intergenic RNA (HOTAIR), or the X-inactive specific transcript (XIST), as well as more recently discovered forms, and their potential roles in different types of cancer. 30654440 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.090 GeneticVariation disease BEFREE In contrast, distinct MIN-tumor-associated DNA amplifications were detected for E2F5 (8p22-q21.3), GARP (11q13.5-q14), ATM (11q22.3), KAL (Xp22.3), and XIST (Xq13.2) as well as DNA deletions for RAF1 (3p25), DCC (18q21.3), and KEN (21q tel). aCGH revealed distinct DNA copy number changes of oncogenes and tumor suppressor genes in CIN- and MIN-type sporadic colorectal carcinomas. 17143621 2007
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.040 GeneticVariation disease BEFREE Small ring (X) chromosomes lacking the XIST gene at Xq13.2 have been associated with a severe phenotype that includes mental retardation, facial dysmorphism and congenital abnormalities. 10982188 2000
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.040 GeneticVariation disease BEFREE One of the cases with severe MR and a complete FXD pattern neither lacked the XIST gene nor had uniparental X isodisomy, and we discuss the mechanism of the failure of XCI in this case. 12900575 2002
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		0.040 GeneticVariation disease BEFREE This first case of selective X-inactive-specific-transcript locus duplication suggests a role for gene repression in Turner syndrome and other disorders that affect ovarian function. 26639996 2016
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		0.040 GeneticVariation disease BEFREE Therefore, it is possible that aberrant activation of the marker chromosome, compromising the AR and XIST genes, may modify the Turner syndrome phenotype. 26744914 2016
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		0.040 GeneticVariation disease BEFREE Turner syndrome female with a small ring X chromosome lacking the XIST, an unexpectedly mild phenotype and an atypical association with alopecia universalis. 15337477 2004
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.040 GeneticVariation group BEFREE One of the cases with severe MR and a complete FXD pattern neither lacked the XIST gene nor had uniparental X isodisomy, and we discuss the mechanism of the failure of XCI in this case. 12900575 2002
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.040 GeneticVariation group BEFREE Small ring (X) chromosomes lacking the XIST gene at Xq13.2 have been associated with a severe phenotype that includes mental retardation, facial dysmorphism and congenital abnormalities. 10982188 2000
CUI: C0023418
Disease: leukemia
leukemia 		0.020 GeneticVariation disease BEFREE Absence of the XIST gene from late-replicating isodicentric X chromosomes in leukaemia. 7981672 1994
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.020 GeneticVariation disease BEFREE We observed a trend towards hypomethylation in the gene body region of the XIST locus in PD females which did not reach significance. 28663000 2017
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		0.020 GeneticVariation disease BEFREE Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene. 17568423 2007
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.020 GeneticVariation disease BEFREE Detection of partially hypomethylated XIST alleles in prostate cancer tissues might be useful for the identification of cases with pronounced hypomethylation, which tend to be more aggressive. 16261845 2005
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 GeneticVariation disease BEFREE Detection of partially hypomethylated XIST alleles in prostate cancer tissues might be useful for the identification of cases with pronounced hypomethylation, which tend to be more aggressive. 16261845 2005
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.020 GeneticVariation group BEFREE In addition, the HDAC8 gene is localized on the X chromosome at position q13, which is close to the XIST gene and chromosomal breakpoints associated with preleukemia. 10922473 2000
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.020 GeneticVariation group BEFREE A previous study localized the breakpoints of two acquired isodicentric X chromosomes associated with myelodysplasia to a 450-kb region proximal to the XIST gene. 10756090 2000
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 GeneticVariation group BEFREE Small ring (X) chromosomes lacking the XIST gene at Xq13.2 have been associated with a severe phenotype that includes mental retardation, facial dysmorphism and congenital abnormalities. 10982188 2000
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		0.010 GeneticVariation disease BEFREE A previous study localized the breakpoints of two acquired isodicentric X chromosomes associated with myelodysplasia to a 450-kb region proximal to the XIST gene. 10756090 2000
CUI: C0033027
Disease: Preleukemia
Preleukemia 		0.010 GeneticVariation disease BEFREE In addition, the HDAC8 gene is localized on the X chromosome at position q13, which is close to the XIST gene and chromosomal breakpoints associated with preleukemia. 10922473 2000
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.010 GeneticVariation disease BEFREE Using PCR, Southern blot analysis, and in situ hybridization, we have looked for the presence of the XIST locus in tiny ring X chromosomes from eight females who have multiple congenital malformations and severe mental retardation. 8265665 1993
CUI: C0263505
Disease: Alopecia universalis
Alopecia universalis 		0.010 GeneticVariation disease BEFREE Turner syndrome female with a small ring X chromosome lacking the XIST, an unexpectedly mild phenotype and an atypical association with alopecia universalis. 15337477 2004
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 GeneticVariation phenotype BEFREE Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay. 11896455 2002
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 GeneticVariation disease BEFREE Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay. 11896455 2002
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.010 GeneticVariation disease BEFREE Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression. 11484209 2001