LAD1, ladinin 1, 3898

N. diseases: 87; N. variants: 2
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: C0432326
Disease: Junctional epidermolysis bullosa mitis
Junctional epidermolysis bullosa mitis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 2 0.010 None 1.000 1 1997 1997
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 16 9 0.020 None 1.000 2 1997 1998
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 47 3 0.010 None 1.000 1 1998 1998
CUI: C4703473
Disease: Atherosclerotic lesion
Atherosclerotic lesion 		disease Cardiovascular Diseases Disease or Syndrome 253 0.010 None 1.000 1 1999 1999
CUI: C0398739
Disease: Congenital disorder of glycosylation, type 2C
Congenital disorder of glycosylation, type 2C 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 6 0.050 None 1.000 5 1998 2001
CUI: C1264606
Disease: Persistent infection
Persistent infection 		phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 13 0.020 None 1.000 2 1999 2001
CUI: C0023518
Disease: Leukocytosis
Leukocytosis 		phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 168 4 0.010 None 1.000 1 2001 2001
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.010 None 1.000 1 2001 2001
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.010 None 1.000 1 2001 2001
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 102 38 0.010 None 1.000 1 2001 2001
CUI: C0036221
Disease: Mast-Cell Sarcoma
Mast-Cell Sarcoma 		disease Neoplasms Neoplastic Process 27 4 0.010 None 1.000 1 2003 2003
CUI: C0030804
Disease: Pemphigoid, Benign Mucous Membrane
Pemphigoid, Benign Mucous Membrane 		disease Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 19 1 0.010 None 1.000 1 2006 2006
CUI: C3275069
Disease: Chronic Total Occlusion Vessel
Chronic Total Occlusion Vessel 		disease Disease or Syndrome 33 0.010 None < 0.001 1 2006 2006
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.010 None 1.000 1 2008 2008
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 48 61 0.010 None 1.000 1 2009 2009
CUI: C0205734
Disease: Diabetes, Autoimmune
Diabetes, Autoimmune 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 172 4 0.030 None 1.000 3 2002 2010
CUI: C2748536
Disease: Leukocyte Adhesion Deficiency, Type III
Leukocyte Adhesion Deficiency, Type III 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 7 6 0.010 None 1.000 1 2010 2010
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		group Immune System Diseases Disease or Syndrome 93 23 0.010 None 1.000 1 2011 2011
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 2013 2013
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 114 26 0.050 None 1.000 5 2000 2014
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		disease Disease or Syndrome 14 12 0.100 None 1.000 15 1998 2015
CUI: C0399451
Disease: Subgingival plaque
Subgingival plaque 		disease Stomatognathic Diseases Disease or Syndrome 9 0.010 None 1.000 1 2015 2015
CUI: C0085652
Disease: Pyoderma Gangrenosum
Pyoderma Gangrenosum 		disease Skin and Connective Tissue Diseases Disease or Syndrome 47 2 0.010 None 1.000 1 2015 2015
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer 		phenotype Skin and Connective Tissue Diseases Disease or Syndrome 151 1 0.010 None 1.000 1 2015 2015
CUI: C0031099
Disease: Periodontitis
Periodontitis 		disease Stomatognathic Diseases Disease or Syndrome 682 116 0.010 None 1.000 1 2015 2015