SERPINB6, serpin family B member 6, 5269

N. diseases: 128; N. variants: 3
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: C3150704
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 91
DEAFNESS, AUTOSOMAL RECESSIVE 91
disease Disease or Syndrome 1 1 0.600 strong 1.000 1 1 1995 1995
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.300 moderate 1.000 3 2010 2015
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.300 strong 1.000 1 1995 1995
CUI: C0043094
Disease: Weight Gain
Weight Gain
phenotype Pathological Conditions, Signs and Symptoms Finding 124 12 0.200 None 1.000 1 2008 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.100 None 1.000 17 2009 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.100 None 1.000 14 2009 2019
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.100 None 0.929 14 1996 2017
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1447 291 0.100 None 1.000 1 1 2016 2016
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 120 122 0.100 None 1.000 1 1 2016 2016
CUI: C1842138
Disease: Progressive hearing impairment
Progressive hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 14 2 0.100 None 0
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.070 None 1.000 7 1999 2020
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification
disease Disease or Syndrome 170 14 0.050 None 1.000 5 2009 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.050 None 1.000 5 2018 2019
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.040 None 1.000 4 2007 2011
CUI: C0039730
Disease: Thalassemia
Thalassemia
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 136 18 0.030 None 1.000 3 1992 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.030 None 1.000 3 2014 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.030 None 1.000 3 2014 2020
CUI: C0694549
Disease: Community acquired pneumonia
Community acquired pneumonia
disease Infections; Respiratory Tract Diseases Disease or Syndrome 75 13 0.020 None 1.000 2 2012 2015
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
group Infections Disease or Syndrome 1471 42 0.020 None 1.000 2 2019 2019
CUI: C0032285
Disease: Pneumonia
Pneumonia
disease Infections; Respiratory Tract Diseases Disease or Syndrome 1032 33 0.020 None 1.000 2 2017 2017
CUI: C0021400
Disease: Influenza
Influenza
disease Infections; Respiratory Tract Diseases Disease or Syndrome 858 17 0.020 None 1.000 2 2019 2019
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 473 21 0.020 None 1.000 2 2014 2016
High-Grade Squamous Intraepithelial Lesions
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 150 8 0.020 None 1.000 2 2014 2018
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.020 None 0.500 2 2004 2019
CUI: C1868594
Disease: Perry Syndrome
Perry Syndrome
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 19 9 0.020 None 1.000 2 2009 2010