SPTBN1, spectrin beta, non-erythrocytic 1, 6711

N. diseases: 76; N. variants: 31
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: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.030 None 0.667 3 2014 2018
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.010 None 1.000 1 2005 2005
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2015 2015
Squamous cell carcinoma of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.010 None < 0.001 1 2015 2015
Malignant neoplasm of gastrointestinal tract
disease Digestive System Diseases; Neoplasms Neoplastic Process 423 55 0.010 None 1.000 1 2005 2005
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2005 2005
CUI: C0154778
Disease: Myopia, Degenerative
Myopia, Degenerative
disease Eye Diseases Disease or Syndrome 39 58 0.100 None 1.000 1 1 2012 2012
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome
disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 481 47 0.010 None 1.000 1 2001 2001
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
group Hemic and Lymphatic Diseases Neoplastic Process 365 43 0.010 None 1.000 1 2008 2008
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
group Infections; Respiratory Tract Diseases Disease or Syndrome 185 1 0.010 None 1.000 1 2019 2019
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
group Mental Disorders Mental or Behavioral Dysfunction 607 47 0.020 None 1.000 2 1 2016 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 1 2016 2016
CUI: C0005940
Disease: Bone Diseases
Bone Diseases
group Musculoskeletal Diseases Disease or Syndrome 317 10 0.010 None 1.000 1 2018 2018
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.010 None 1.000 1 2019 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.070 None 1.000 7 2000 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.050 None 1.000 5 2000 2020
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.030 None 1.000 3 2006 2019
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.030 None 1.000 3 2006 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.110 None 1.000 2 16 2003 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2005 2017
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.010 None 1.000 1 2016 2016
CUI: C0677936
Disease: Refractory cancer
Refractory cancer
phenotype Neoplasms Neoplastic Process 184 9 0.010 None 1.000 1 2016 2016
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
disease Neoplasms Neoplastic Process 1740 140 0.010 None 1.000 1 2017 2017
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 32 5 0.010 None 1.000 1 2007 2007
Childhood B Acute Lymphoblastic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 99 4 0.010 None 1.000 1 2019 2019