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: C2698314
Disease: B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) 		disease Neoplastic Process 1 1 0.100 None 0 1
CUI: C4025114
Disease: Aphalangy of the hands
Aphalangy of the hands 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4025236
Disease: Anomalous splenoportal venous system
Anomalous splenoportal venous system 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4025237
Disease: Stiff interphalangeal joints
Stiff interphalangeal joints 		disease Anatomical Abnormality 1 0.100 None 0
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: C0561921
Disease: Perineal fistula
Perineal fistula 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Anatomical Abnormality 2 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: C1849327
Disease: Forearm reduction defects
Forearm reduction defects 		phenotype Finding 2 0.100 None 0
CUI: C1849377
Disease: Midface capillary hemangioma
Midface capillary hemangioma 		disease Neoplastic Process 2 0.100 None 0
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: C1836219
Disease: Carpal bone aplasia
Carpal bone aplasia 		phenotype Finding 3 0.100 None 0
CUI: C1846473
Disease: Aplasia of metacarpal bones
Aplasia of metacarpal bones 		phenotype Finding 3 0.100 None 0
CUI: C1096527
Disease: Mosaic trisomy 8 syndrome
Mosaic trisomy 8 syndrome 		disease Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C1857645
Disease: Slender nose
Slender nose 		phenotype Finding 4 0.100 None 0
CUI: C0948391
Disease: Convulsion in childhood
Convulsion in childhood 		phenotype Sign or Symptom 5 0.010 None 1.000 1 2019 2019
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: C1840068
Disease: Patellar hypoplasia
Patellar hypoplasia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 5 1 0.100 None 0
CUI: C1851313
Disease: Limited shoulder movement
Limited shoulder movement 		phenotype Finding 5 2 0.100 None 0
CUI: C0795940
Disease: Filippi syndrome
Filippi syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 6 6 0.010 None 1.000 1 2016 2016
CUI: C1840535
Disease: Abnormality of the carpal bones
Abnormality of the carpal bones 		phenotype Musculoskeletal Diseases Finding 6 0.100 None 0
CUI: C4021164
Disease: Bicoronal synostosis
Bicoronal synostosis 		disease Congenital Abnormality 6 1 0.100 None 0
CUI: C1857484
Disease: Brachyturricephaly
Brachyturricephaly 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 9 2 0.100 None 0
CUI: C0264169
Disease: Saddle nose
Saddle nose 		phenotype Respiratory Tract Diseases; Otorhinolaryngologic Diseases Finding 10 1 0.100 None 0
CUI: C0265372
Disease: Fetal hydantoin syndrome
Fetal hydantoin syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 11 1 0.010 None 1.000 1 2012 2012
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