NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 225; N. variants: 270
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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		disease Congenital Abnormality 85 16 0.100 None 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.100 None 0
CUI: C4531263
Disease: Abnormal incisura morphology
Abnormal incisura morphology 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice 		disease Anatomical Abnormality 14 0.100 None 0
CUI: C0728895
Disease: Absent finger
Absent finger 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 0.100 None 0
CUI: C0345397
Disease: Accessory rib
Accessory rib 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 12 0.100 None 0
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.010 None 1.000 1 2016 2016
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0 1
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.110 None 1.000 1 2009 2009
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 840 163 0.010 None 1.000 1 2009 2009
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		phenotype Finding 116 5 0.100 None 0
CUI: C0004106
Disease: Astigmatism
Astigmatism 		disease Eye Diseases Disease or Syndrome 148 45 0.100 None 0
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		disease Anatomical Abnormality 44 3 0.100 None 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.100 None 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.100 None 0
CUI: C4015466
Disease: Bilateral clinodactyly
Bilateral clinodactyly 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		phenotype Finding 65 1 0.100 None 0
CUI: C0005741
Disease: Blepharitis
Blepharitis 		disease Eye Diseases Disease or Syndrome 55 3 0.100 None 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 595 57 0.110 None 1.000 1 2006 2006
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 2 2 2014 2017
CUI: C0005910
Disease: Body Weight
Body Weight 		phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 57 92 0.100 None 1.000 1 1 2017 2017
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		group Musculoskeletal Diseases Disease or Syndrome 82 2 0.300 None 1.000 1 2009 2009
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.100 None 0