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: C0043094
Disease: Weight Gain
Weight Gain
phenotype Pathological Conditions, Signs and Symptoms Finding 124 12 0.300 None 1.000 1 2008 2008
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 107 84 0.210 None 1.000 2 2010 2016
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: C0005938
Disease: Bone Density
Bone Density
phenotype Clinical Attribute 138 654 0.100 None 1.000 3 1 2008 2018
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 2 4 2019 2019
CUI: C0040420
Disease: Tonometry
Tonometry
phenotype Diagnostic Procedure 206 573 0.100 None 1.000 2 2 2018 2019
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 2 2 2019 2019
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: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2019 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.050 None 0.800 5 2016 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: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures
group Wounds and Injuries Disease or Syndrome 108 40 0.030 None 1.000 3 3 2010 2013
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.030 None 0.667 3 2017 2020
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.030 None 1.000 3 2006 2019
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: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.030 None 1.000 3 2006 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.030 None 1.000 3 2005 2018
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.030 None 1.000 3 2006 2019
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
disease Digestive System Diseases Disease or Syndrome 1058 222 0.020 None 1.000 2 2017 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2005 2017
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.020 None 1.000 2 2016 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.020 None 1.000 2 2005 2009
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