RECQL4, RecQ like helicase 4, 9401

N. diseases: 249; N. variants: 73
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: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 35 12 1.000 definitive 0.986 73 12 1999 2019
CUI: C0024530
Disease: Malaria
Malaria 		disease Infections Disease or Syndrome 685 148 0.100 None 1.000 42 2003 2020
CUI: C0265308
Disease: Baller-Gerold syndrome
Baller-Gerold syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 54 0.770 None 1.000 26 54 1999 2018
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2283 178 0.500 strong 0.833 12 2003 2018
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		disease Neoplasms Neoplastic Process 2247 151 0.100 None 0.818 11 2003 2018
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		disease Neoplasms Neoplastic Process 2208 151 0.100 None 0.818 11 2003 2018
CUI: C1849453
Disease: Rapadilino syndrome
Rapadilino syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 2 14 0.750 None 1.000 10 14 1999 2012
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 136 5 0.080 None 0.875 8 1999 2017
CUI: C4543807
Disease: Clinical malaria
Clinical malaria 		disease Infections Disease or Syndrome 37 3 0.070 None 0.857 7 2007 2019
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.060 None 0.833 6 2003 2018
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 20 2 0.160 None 0.667 6 2006 2015
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 155 132 0.050 None 1.000 5 1999 2017
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 71 0.050 None 1.000 5 1999 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 5 2 2006 2015
CUI: C0024535
Disease: Malaria, Falciparum
Malaria, Falciparum 		disease Infections Disease or Syndrome 158 19 0.040 None 1.000 4 2007 2018
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 234 368 0.030 None 0.667 3 2002 2019
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 31 88 0.030 None 1.000 3 2006 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.020 None 1.000 2 2013 2016
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1718 245 0.020 None 1.000 2 2007 2013
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 488 90 0.020 None 1.000 2 2010 2015
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2111 144 0.020 None 1.000 2 2018 2019
CUI: C0025289
Disease: Meningitis
Meningitis 		disease Nervous System Diseases Disease or Syndrome 191 13 0.020 None 1.000 2 2017 2019
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.020 None 1.000 2 2014 2019
CUI: C0034494
Disease: Rabies (disorder)
Rabies (disorder) 		disease Infections Disease or Syndrome 123 0.020 None 1.000 2 2009 2020
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		disease Neoplasms; Eye Diseases Neoplastic Process 853 193 0.020 None 1.000 2 2010 2013