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: 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: 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: C0029463
Disease: Osteosarcoma
Osteosarcoma
disease Neoplasms Neoplastic Process 2283 178 0.500 strong 0.833 12 2003 2018
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 86 11 0.300 limited 1.000 1 2006 2006
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: C0024299
Disease: Lymphoma
Lymphoma
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1548 91 0.120 None 1.000 2 2009 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.110 None 1.000 1 2017 2017
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 37 5 0.110 None 1.000 1 2005 2005
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.110 None 1.000 1 2005 2005
CUI: C0024530
Disease: Malaria
Malaria
disease Infections Disease or Syndrome 685 148 0.100 None 1.000 42 2003 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.100 None 0.967 30 2000 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.100 None 0.967 30 2000 2019
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
disease Neoplasms Neoplastic Process 2208 151 0.100 None 0.818 11 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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 5 2 2006 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 5 2 2006 2015
CUI: C0021704
Disease: Intelligence
Intelligence
phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 1 2 2018 2018
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 0.100 None 0
CUI: C0728895
Disease: Absent finger
Absent finger
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 0.100 None 0
CUI: C1266165
Disease: High grade surface osteosarcoma
High grade surface osteosarcoma
disease Neoplastic Process 2 1 0.100 None 0 1
CUI: C0853877
Disease: Fistula of genitourinary tract
Fistula of genitourinary tract
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 11 0.100 None 0
CUI: C0860439
Disease: Mottled pigmentation
Mottled pigmentation
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 5 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype Finding 129 21 0.100 None 0