NBAS, NBAS subunit of NRZ tethering complex, 51594

N. diseases: 123; N. variants: 22
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.
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
disease Disease or Syndrome 1 4 0.760 None 1.000 7 4 2010 2019
Acrofrontofacionasal dysostosis syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C4021893
Disease: Nonprogressive visual loss
Nonprogressive visual loss
phenotype Finding 1 0.100 None 0
CUI: C3809651
Disease: INFANTILE LIVER FAILURE SYNDROME 2
INFANTILE LIVER FAILURE SYNDROME 2
disease Disease or Syndrome 2 12 0.730 None 1.000 6 12 2015 2019
CUI: C0554309
Disease: Prerenal uremia syndrome
Prerenal uremia syndrome
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C1404837
Disease: Drug-induced Nephropathy
Drug-induced Nephropathy
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 12 0.010 None 1.000 1 2019 2019
CUI: C0086648
Disease: MPS III B
MPS III B
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 13 92 0.010 None 1.000 1 1996 1996
CUI: C0522051
Disease: Acute chest pain
Acute chest pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 13 0.010 None 1.000 1 2020 2020
CUI: C1860247
Disease: Prominent glabella
Prominent glabella
phenotype Finding 14 3 0.100 None 0
CUI: C0238304
Disease: Chronic interstitial nephritis
Chronic interstitial nephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 18 1 0.010 None 1.000 1 2011 2011
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 21 101 0.010 None 1.000 1 2019 2019
CUI: C0878681
Disease: Dent's disease
Dent's disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 23 12 0.010 None 1.000 1 2008 2008
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 25 7 0.050 None 1.000 5 2010 2020
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 26 4 0.010 None 1.000 1 2019 2019
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 26 63 0.100 None 0
CUI: C0341703
Disease: Adult Fanconi syndrome
Adult Fanconi syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 32 0.010 None 1.000 1 2008 2008
CUI: C4316899
Disease: Cystinosis
Cystinosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 32 27 0.010 None 1.000 1 2008 2008
CUI: C3887641
Disease: Recurrent hepatitis
Recurrent hepatitis
disease Digestive System Diseases Disease or Syndrome 35 5 0.010 None 1.000 1 2018 2018
CUI: C4324374
Disease: Renal tubular injury
Renal tubular injury
disease Disease or Syndrome 36 1 0.020 None 1.000 2 2018 2019
Cholestasis, progressive familial intrahepatic 1
disease Digestive System Diseases Disease or Syndrome 38 19 0.010 None 1.000 1 1995 1995
Increased susceptibility to fractures
phenotype Finding 42 5 0.300 strong 1.000 1 2017 2017
CUI: C0085693
Disease: Acute appendicitis NOS (disorder)
Acute appendicitis NOS (disorder)
disease Digestive System Diseases; Infections Disease or Syndrome 43 2 0.010 None 1.000 1 2019 2019
CUI: C0021846
Disease: Intestinal Polyps
Intestinal Polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 48 1 0.010 None 1.000 1 2006 2006
CUI: C4049993
Disease: Aristolochic Acid Nephropathy
Aristolochic Acid Nephropathy
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 49 0.010 None 1.000 1 2011 2011
CUI: C1619727
Disease: Decompensated cirrhosis of liver
Decompensated cirrhosis of liver
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 52 2 0.010 None 1.000 1 2019 2019