POFUT1, protein O-fucosyltransferase 1, 23509

N. diseases: 45; N. variants: 7
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: C4552092
Disease: Dowling-Degos disease 1
Dowling-Degos disease 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 3 0.300 None 0
CUI: C4024220
Disease: Hypomelanotic macule
Hypomelanotic macule 		phenotype Skin and Connective Tissue Diseases Finding 4 1 0.100 None 0
CUI: C0334013
Disease: Phrynoderma
Phrynoderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 19 3 0.100 None 0
CUI: C0406811
Disease: Reticulate acropigmentation of Kitamura
Reticulate acropigmentation of Kitamura 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 5 5 0.300 None 0
CUI: C1851972
Disease: Reticular hyperpigmentation
Reticular hyperpigmentation 		phenotype Finding 7 0.100 None 0
CUI: C0026996
Disease: Myeloid hyperplasia
Myeloid hyperplasia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 0.010 None 1.000 1 2011 2011
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 53 7 0.660 strong 1.000 6 1 2013 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.030 None 1.000 3 2013 2020
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		disease Skin and Connective Tissue Diseases Disease or Syndrome 126 15 0.010 None 1.000 1 2013 2013
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 54 6 0.010 None 1.000 1 2013 2013
CUI: C3809147
Disease: DOWLING-DEGOS DISEASE 2
DOWLING-DEGOS DISEASE 2 		disease Disease or Syndrome 1 3 0.400 strong 1.000 1 3 2013 2013
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.030 None 1.000 3 2016 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.030 None 1.000 3 2017 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2017 2019
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.010 None 1.000 1 2017 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2017 2017
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 414 16 0.010 None 1.000 1 2017 2017
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.010 None 1.000 1 2017 2017
CUI: C0158623
Disease: Congenital anomaly of coronary artery
Congenital anomaly of coronary artery 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 3 0.010 None 1.000 1 2017 2017
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		disease Neoplasms Neoplastic Process 486 13 0.010 None 1.000 1 2017 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.010 None 1.000 1 2017 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2017 2017
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.100 None 1.000 1 1 2017 2017
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.010 None 1.000 1 2017 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2017 2017