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: C1848138
Disease: X INACTIVATION, FAMILIAL SKEWED, 1 (disorder)
X INACTIVATION, FAMILIAL SKEWED, 1 (disorder) 		0.300 Biomarker disease CTD_human
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		0.100 Biomarker phenotype HPO
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: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		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: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.020 AlteredExpression disease BEFREE Thus, diagnosis of Klinefelter's syndrome can be accelerated without loss of sensitivity and specificity by detection of XIST expression in peripheral blood leukocytes. 8085664 1994
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: C0432474
Disease: Klinefelter's syndrome - male with more than two X chromosomes
Klinefelter's syndrome - male with more than two X chromosomes 		0.020 AlteredExpression disease BEFREE Thus, diagnosis of Klinefelter's syndrome can be accelerated without loss of sensitivity and specificity by detection of XIST expression in peripheral blood leukocytes. 8085664 1994
CUI: C0036631
Disease: Seminoma
Seminoma 		0.020 AlteredExpression disease BEFREE Although low expression was present in testicular parenchyma with spermatogenesis, XIST was expressed at a higher level in parenchyma with carcinoma in situ, the precursor lesion of seminomas and nonseminomas. 9250171 1997
CUI: C0033770
Disease: Prune Belly Syndrome
Prune Belly Syndrome 		0.010 Biomarker disease BEFREE Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST. 9129738 1997
CUI: C0039590
Disease: Testicular Neoplasms
Testicular Neoplasms 		0.010 AlteredExpression group BEFREE X inactivation in human testicular tumors. XIST expression and androgen receptor methylation status. 9250171 1997
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.010 Biomarker disease BEFREE In addition to the landmark loci for the X-inactivation center XIST and the ATRX, ATP7A, phosphoglycerate kinase, POU3F4, and choroideremia genes, the candidate disease gene regions for torsion dystonia 3 and two X-linked mental retardation syndromes are included. 9524253 1998
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: 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: 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: 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
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: 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: C0039538
Disease: Teratoma
Teratoma 		0.010 Biomarker disease BEFREE The ring X chromosome mosaicism was present in the amniotic cell culture and in the teratoma and the ring X was inactive (X-inactive specific transcript (XIST) locus expressed). 11755101 2002
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: C1368898
Disease: Adult Teratoma
Adult Teratoma 		0.010 Biomarker disease BEFREE The ring X chromosome mosaicism was present in the amniotic cell culture and in the teratoma and the ring X was inactive (X-inactive specific transcript (XIST) locus expressed). 11755101 2002