ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
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: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 113 9 0.020 None 1.000 2 2003 2017
CUI: C4554007
Disease: Uveoretinal Coloboma
Uveoretinal Coloboma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 8 0.300 None 1.000 1 2012 2012
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
disease Neoplasms; Eye Diseases Neoplastic Process 376 22 0.010 None 1.000 1 2019 2019
CUI: C0042140
Disease: Uterine Prolapse
Uterine Prolapse
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality 12 0.010 None 1.000 1 2010 2010
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
group Neoplasms Neoplastic Process 569 154 0.060 None 0.667 6 1995 2019
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder)
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 14 11 0.010 None 1.000 1 2008 2008
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 68 74 0.010 None 1.000 1 1999 1999
CUI: C0041956
Disease: Ureteral obstruction
Ureteral obstruction
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 359 0.100 None 1.000 12 2012 2020
CUI: C4022024
Disease: Upper limb asymmetry
Upper limb asymmetry
disease Anatomical Abnormality 9 0.100 None 0
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma
disease Neoplasms Neoplastic Process 283 8 0.300 None 1.000 1 2005 2005
CUI: C0343758
Disease: Typhus group rickettsial disease
Typhus group rickettsial disease
disease Infections Disease or Syndrome 8 0.010 None 1.000 1 2015 2015
CUI: C0041471
Disease: TYPHUS
TYPHUS
disease Infections Disease or Syndrome 8 0.010 None 1.000 1 2015 2015
CUI: C0041466
Disease: Typhoid Fever
Typhoid Fever
disease Infections Disease or Syndrome 31 5 0.010 None 1.000 1 2006 2006
CUI: C0001618
Disease: Tumors of Adrenal Cortex
Tumors of Adrenal Cortex
group Neoplasms; Endocrine System Diseases Neoplastic Process 74 5 0.010 None 1.000 1 2017 2017
CUI: C1519666
Disease: Tumor-Associated Vasculature
Tumor-Associated Vasculature
disease Acquired Abnormality 84 0.010 None 1.000 1 2018 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.100 None 1.000 35 2005 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.100 None 0.987 297 1990 2020
CUI: C1519670
Disease: Tumor Angiogenesis
Tumor Angiogenesis
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 822 5 0.020 None 1.000 2 2013 2016
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis
phenotype Disease or Syndrome 328 0.090 None 1.000 9 2010 2019
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 289 55 0.010 None 1.000 1 2014 2014
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
disease Infections Disease or Syndrome 1256 328 0.050 None 1.000 5 2006 2019
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1598 96 0.070 None 1.000 7 2012 2020
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1674 99 0.070 None 1.000 7 2012 2020
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 52 7 0.100 None 0
CUI: C1962942
Disease: TRICHOMONAS VAGINALIS (finding)
TRICHOMONAS VAGINALIS (finding)
disease Disease or Syndrome 56 0.030 None 1.000 3 2008 2016