NOG, noggin, 9241

N. diseases: 206; N. variants: 17
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: C1861385
Disease: SYMPHALANGISM, PROXIMAL
SYMPHALANGISM, PROXIMAL
disease Musculoskeletal Diseases Disease or Syndrome 4 1 0.800 None 1.000 21 1995 2019
CUI: C1861305
Disease: TARSAL-CARPAL COALITION SYNDROME
TARSAL-CARPAL COALITION SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 261 13 0.770 None 1.000 8 3 2002 2015
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 2 0.750 None 1.000 7 2 2002 2015
CUI: C0342282
Disease: Multiple synostoses syndrome 1
Multiple synostoses syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 4 0.730 None 1.000 7 4 1999 2014
CUI: C1969652
Disease: BRACHYDACTYLY, TYPE B2 (disorder)
BRACHYDACTYLY, TYPE B2 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 2 0.730 None 1.000 4 2 2007 2017
CUI: C3714899
Disease: SYMPHALANGISM, PROXIMAL, 1A
SYMPHALANGISM, PROXIMAL, 1A
disease Musculoskeletal Diseases Disease or Syndrome 5 12 0.700 None 1.000 16 10 1999 2019
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome
disease Musculoskeletal Diseases Disease or Syndrome 5 2 0.600 None 1.000 12 2 1999 2015
Symphalangism-brachydactyly syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 0.330 None 1.000 3 2005 2016
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 333 115 0.310 moderate 1.000 1 2004 2004
Esophageal atresia with or without tracheoesophageal fistula
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 19 12 0.210 None 1.000 2 2007 2012
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.210 None 1.000 2 2011 2018
CUI: C0022672
Disease: Acute Kidney Tubular Necrosis
Acute Kidney Tubular Necrosis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 53 0.200 None 1.000 1 2006 2006
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 291 5 0.140 None 1.000 4 2002 2015
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 6 8 0.130 None 0.667 3 2 2007 2012
CUI: C0020490
Disease: Hyperopia
Hyperopia
disease Eye Diseases Disease or Syndrome 142 29 0.130 None 1.000 3 2002 2011
CUI: C0431863
Disease: Carpal synostosis
Carpal synostosis
disease Congenital Abnormality 15 0.110 None 1.000 1 2007 2007
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.110 None 1.000 1 1 2012 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.778 18 1989 2020
CUI: C0039075
Disease: Syndactyly
Syndactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 127 26 0.100 None 1.000 11 1 2002 2018
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease Congenital Abnormality 284 39 0.100 None 0
CUI: C1856119
Disease: Low hanging columella
Low hanging columella
phenotype Finding 17 1 0.100 None 0
CUI: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones
phenotype Finding 23 0.100 None 0
Proximal/middle symphalangism of 5th finger
phenotype Finding 3 0.100 None 0
CUI: C1837463
Disease: Narrow face
Narrow face
phenotype Finding 87 6 0.100 None 0
CUI: C1839798
Disease: Long nose
Long nose
phenotype Finding 29 2 0.100 None 0