DERL1, derlin 1, 79139

N. diseases: 85; N. variants: 0
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: C0038325
Disease: Stevens-Johnson Syndrome
Stevens-Johnson Syndrome 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome 67 16 0.300 None 1.000 1 2015 2015
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome 143 29 0.300 None 1.000 1 2015 2015
CUI: C3658301
Disease: Mycoplasma-Induced Stevens-Johnson Syndrome
Mycoplasma-Induced Stevens-Johnson Syndrome 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome 30 0.300 None 1.000 1 2015 2015
CUI: C3658302
Disease: Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome 50 1 0.300 None 1.000 1 2015 2015
CUI: C1274933
Disease: Drug-Induced Stevens Johnson Syndrome
Drug-Induced Stevens Johnson Syndrome 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome 31 0.300 None 1.000 1 2015 2015
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma 		disease Neoplasms Neoplastic Process 154 19 0.010 None 1.000 1 2006 2006
CUI: C0282609
Disease: Bone Marrow Neoplasms
Bone Marrow Neoplasms 		group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 16 0.010 None 1.000 1 1993 1993
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		phenotype Neoplasms Neoplastic Process 1145 24 0.010 None 1.000 1 2016 2016
CUI: C0280028
Disease: Refractory anemia with excess blasts in transformation (clinical)
Refractory anemia with excess blasts in transformation (clinical) 		disease Hemic and Lymphatic Diseases Disease or Syndrome 10 0.010 None 1.000 1 1999 1999
CUI: C0279644
Disease: Childhood Acute Myelomonocytic Leukemia
Childhood Acute Myelomonocytic Leukemia 		disease Neoplasms Neoplastic Process 28 3 0.010 None 1.000 1 1999 1999
CUI: C0279627
Disease: Adult Acute Myelomonocytic Leukemia
Adult Acute Myelomonocytic Leukemia 		disease Neoplasms Neoplastic Process 28 3 0.010 None 1.000 1 1999 1999
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		disease Neoplasms Neoplastic Process 154 19 0.010 None 1.000 1 2006 2006
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.010 None 1.000 1 2013 2013
CUI: C0220621
Disease: Childhood Acute Myeloid Leukemia
Childhood Acute Myeloid Leukemia 		disease Neoplasms Neoplastic Process 215 6 0.010 None 1.000 1 2010 2010
CUI: C0220615
Disease: Adult Acute Myeloblastic Leukemia
Adult Acute Myeloblastic Leukemia 		disease Neoplasms Neoplastic Process 160 3 0.010 None 1.000 1 2010 2010
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 94 135 0.010 None 1.000 1 2004 2004
CUI: C0085652
Disease: Pyoderma Gangrenosum
Pyoderma Gangrenosum 		disease Skin and Connective Tissue Diseases Disease or Syndrome 47 2 0.010 None 1.000 1 2004 2004
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.010 None 1.000 1 2019 2019
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.010 None 1.000 1 2005 2005
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.010 None 1.000 1 2005 2005
CUI: C0432411
Disease: Chromosome 9, trisomy
Chromosome 9, trisomy 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 12 0.010 None 1.000 1 1989 1989
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.010 None 1.000 1 2005 2005
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		disease Disease or Syndrome 138 21 0.010 None 1.000 1 2011 2011
CUI: C1510502
Disease: Oxyphilic Adenoma
Oxyphilic Adenoma 		disease Neoplasms Neoplastic Process 114 3 0.010 None 1.000 1 1997 1997
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.010 None 1.000 1 2008 2008