GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
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: C0432475
Disease: XX males
XX males 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 32 0.010 None 1.000 1 2007 2007
CUI: C0043345
Disease: Xeroderma
Xeroderma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 7 1 0.300 None 1.000 1 2006 2006
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype Finding 172 1 0.100 None 0
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 7 26 0.010 None 1.000 1 2011 2011
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 9 2 0.010 None 1.000 1 2011 2011
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 16 46 0.010 None 1.000 1 2018 2018
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 21 8 0.020 None 1.000 2 1 2012 2018
CUI: C0042571
Disease: Vertigo
Vertigo 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 173 35 0.010 None 1.000 1 2011 2011
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		group Neoplasms Neoplastic Process 569 154 0.010 None 1.000 1 2001 2001
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 68 74 0.030 None 1.000 3 1 2008 2012
CUI: C0042109
Disease: Urticaria
Urticaria 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 168 11 0.100 None 0
CUI: C0041972
Disease: Urethral Obstruction
Urethral Obstruction 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 16 0.200 None 1.000 1 2002 2002
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2019 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2 2006 2008
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1598 96 0.010 None 1.000 1 2018 2018
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1674 99 0.010 None 1.000 1 2018 2018
CUI: C0221259
Disease: Trichiasis
Trichiasis 		disease Eye Diseases Disease or Syndrome 12 1 0.100 None 0
CUI: C0040264
Disease: Tinnitus
Tinnitus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 103 14 0.010 None 1.000 1 2010 2010
CUI: C0151468
Disease: Thyroid Gland Follicular Adenoma
Thyroid Gland Follicular Adenoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 202 14 0.010 None < 0.001 1 2008 2008
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		phenotype Finding 211 25 0.100 None 0 1
CUI: C4025316
Disease: Temporal hypotrichosis
Temporal hypotrichosis 		disease Congenital Abnormality 3 2 0.100 None 0 1
CUI: C0423113
Disease: Telecanthus
Telecanthus 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 134 14 0.100 None 0 1
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 26 129 0.010 None 1.000 1 2005 2005
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.100 None 0
CUI: C0431447
Disease: Synophrys
Synophrys 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 111 23 0.100 None 0 1