XIST, X inactive specific transcript, 7503

N. diseases: 146; N. variants: 0
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1848138
Disease: X INACTIVATION, FAMILIAL SKEWED, 1 (disorder)
X INACTIVATION, FAMILIAL SKEWED, 1 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 1 0.300 None 0
CUI: C0033027
Disease: Preleukemia
Preleukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 19 0.010 None 1.000 1 2000 2000
CUI: C0263505
Disease: Alopecia universalis
Alopecia universalis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 19 2 0.010 None 1.000 1 2004 2004
CUI: C0242526
Disease: Gonadal Dysgenesis, 45,X
Gonadal Dysgenesis, 45,X 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 23 0.010 None 1.000 1 2010 2010
CUI: C0151544
Disease: Gastrointestinal carcinoma
Gastrointestinal carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 26 3 0.010 None 1.000 1 2018 2018
CUI: C1335059
Disease: testicular nonseminoma
testicular nonseminoma 		disease Neoplastic Process 30 4 0.010 None 1.000 1 2003 2003
CUI: C0432475
Disease: XX males
XX males 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 32 0.010 None 1.000 1 2010 2010
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Congenital Abnormality 37 253 0.010 None 1.000 1 2001 2001
CUI: C0391976
Disease: Pain Disorder
Pain Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 41 3 0.010 None 1.000 1 2018 2018
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 45 78 0.020 None 1.000 2 2007 2019
CUI: C0796663
Disease: Childhood Testicular Germ Cell Tumor
Childhood Testicular Germ Cell Tumor 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 55 0.010 None 1.000 1 2003 2003
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 57 2 0.010 None 1.000 1 1993 1993
CUI: C1298180
Disease: Single tumor
Single tumor 		phenotype Neoplastic Process 63 4 0.010 None 1.000 1 2007 2007
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 80 42 0.010 None 1.000 1 2017 2017
CUI: C0033770
Disease: Prune Belly Syndrome
Prune Belly Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 83 2 0.010 None 1.000 1 1997 1997
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 89 19 0.010 None 1.000 1 2019 2019
CUI: C0432474
Disease: Klinefelter's syndrome - male with more than two X chromosomes
Klinefelter's syndrome - male with more than two X chromosomes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 90 5 0.020 None 1.000 2 1994 2007
CUI: C1368898
Disease: Adult Teratoma
Adult Teratoma 		disease Neoplasms Neoplastic Process 93 3 0.010 None 1.000 1 2002 2002
CUI: C2347762
Disease: Childhood Teratoma
Childhood Teratoma 		disease Neoplasms Neoplastic Process 95 3 0.010 None 1.000 1 2002 2002
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 114 26 0.010 None 1.000 1 2017 2017
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 122 17 0.010 None 1.000 1 2017 2017
CUI: C0039590
Disease: Testicular Neoplasms
Testicular Neoplasms 		group Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 124 31 0.010 None 1.000 1 1997 1997
CUI: C0855197
Disease: Malignant Testicular Germ Cell Tumor
Malignant Testicular Germ Cell Tumor 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 128 62 0.010 None 1.000 1 2004 2004
CUI: C0235989
Disease: Renal interstitial fibrosis
Renal interstitial fibrosis 		disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 138 0.010 None 1.000 1 2019 2019
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 141 13 0.010 None 1.000 1 1998 1998