TRAF6, TNF receptor associated factor 6, 7189

N. diseases: 254; N. variants: 10
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: C0265331
Disease: Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder)
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 0.300 None 0
CUI: C4704767
Disease: Myelodysplastic Syndrome Acute Myeloid Leukemia
Myelodysplastic Syndrome Acute Myeloid Leukemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Neoplastic Process 8 0.010 None 1.000 1 2012 2012
CUI: C1318881
Disease: Vancomycin intermediate staphylococcus aureus infection
Vancomycin intermediate staphylococcus aureus infection 		disease Disease or Syndrome 16 0.010 None 1.000 1 2019 2019
CUI: C3541517
Disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		disease Disease or Syndrome 18 10 0.020 None 1.000 2 2012 2013
CUI: C3888065
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT 		disease Disease or Syndrome 18 11 0.020 None 1.000 2 2012 2013
CUI: C0266052
Disease: Precocious exfoliation of primary tooth
Precocious exfoliation of primary tooth 		phenotype Stomatognathic Diseases Finding 20 0.100 None 0
CUI: C1737225
Disease: Mesangioproliferative glomerulonephritis
Mesangioproliferative glomerulonephritis 		disease Disease or Syndrome 21 0.010 None 1.000 1 2019 2019
CUI: C4272578
Disease: Autosomal Recessive Osteopetrosis
Autosomal Recessive Osteopetrosis 		disease Musculoskeletal Diseases Disease or Syndrome 24 3 0.010 None < 0.001 1 2017 2017
CUI: C3539920
Disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 25 7 0.030 None 1.000 3 2004 2013
CUI: C3887494
Disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 25 35 0.030 None 1.000 3 2004 2013
CUI: C1861537
Disease: OROFACIAL CLEFT 1
OROFACIAL CLEFT 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 28 11 0.010 None 1.000 1 2018 2018
CUI: C1706004
Disease: Anhydrotic Ectodermal Dysplasias
Anhydrotic Ectodermal Dysplasias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 29 2 0.020 None 0.500 2 2002 2005
CUI: C0276680
Disease: Infection by Candida albicans
Infection by Candida albicans 		disease Infections Disease or Syndrome 30 0.010 None 1.000 1 2012 2012
CUI: C0275551
Disease: Primary bacterial peritonitis
Primary bacterial peritonitis 		disease Digestive System Diseases; Infections Disease or Syndrome 39 11 0.010 None 1.000 1 2 2017 2017
CUI: C0021171
Disease: Bloch Sulzberger syndrome
Bloch Sulzberger syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 41 10 0.020 None 1.000 2 2007 2010
CUI: C0037023
Disease: Sialadenitis
Sialadenitis 		disease Stomatognathic Diseases Disease or Syndrome 42 0.010 None 1.000 1 2018 2018
CUI: C3495919
Disease: Enthesitis-Related Arthritis
Enthesitis-Related Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 42 2 0.010 None 1.000 1 2012 2012
CUI: C1536999
Disease: cancer angiogenesis
cancer angiogenesis 		phenotype Neoplastic Process 44 0.010 None 1.000 1 2018 2018
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 45 78 0.250 None 0.833 6 1999 2013
CUI: C0032533
Disease: Polymyalgia Rheumatica
Polymyalgia Rheumatica 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 51 7 0.010 None 1.000 1 2012 2012
CUI: C2613439
Disease: Extramedullary Hematopoiesis (disorder)
Extramedullary Hematopoiesis (disorder) 		disease Hemic and Lymphatic Diseases Disease or Syndrome 52 1 0.010 None 1.000 1 2018 2018
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality 54 2 0.100 None 0
CUI: C1862863
Disease: Sparse body hair
Sparse body hair 		phenotype Finding 57 0.100 None 0
CUI: C0234245
Disease: Visceral Pain
Visceral Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 58 0.010 None 1.000 1 2019 2019
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		phenotype Finding 58 5 0.100 None 0