NIPBL, NIPBL, cohesin loading factor, 25836

N. diseases: 188; N. variants: 14
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: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 29 12 0.900 1.000 63 12 1999 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.420 strong 1.000 2 2015 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.310 1.000 1 2018 2018
CUI: C1853099
Disease: Cornelia de Lange Syndrome 3
Cornelia de Lange Syndrome 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 16 0.300 3 2009 2018
Congenital muscular hypertrophy-cerebral syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 31 0.300 3 2009 2018
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease Congenital Abnormality 115 9 0.300 strong 2 2004 2017
CUI: C1510450
Disease: Dysacusis
Dysacusis
phenotype Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 3 0.300 1 2010 2010
CUI: C0877848
Disease: Distorted hearing
Distorted hearing
phenotype Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Finding 3 0.300 1 2010 2010
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 276 31 0.300 1 2010 2010
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental
group Musculoskeletal Diseases Disease or Syndrome 54 1 0.300 1 2010 2010
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 4 0.300 1 2010 2010
CUI: C0260662
Disease: Hearing problem
Hearing problem
group Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Finding 6 0.300 1 2010 2010
CUI: C0155536
Disease: Paracousis
Paracousis
phenotype Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 3 0.300 1 2010 2010
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome 203 47 0.300 0
Chromosome 5p13 Duplication Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.300 0
CUI: C4025414
Disease: Radial club hand
Radial club hand
disease Congenital Abnormality 58 0.300 strong 0
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 10 0.110 1.000 2 1 2010 2015
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.110 1.000 1 2016 2016
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 463 69 0.110 1.000 1 2009 2009
Sensorineural Hearing Loss (disorder)
disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 470 31 0.110 1.000 1 2015 2015
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 336 11 0.110 1.000 1 2006 2006
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 399 4 0.110 1.000 1 2016 2016
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 340 34 0.110 1.000 1 1999 1999
CUI: C1839546
Disease: Microretrognathia
Microretrognathia
phenotype Finding 21 1 0.100 1 1 2015 2015
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung
disease Congenital Abnormality 124 1 0.100 1 1 2015 2015