NELL1, neural EGFL like 1, 4745

N. diseases: 122; N. variants: 23
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: C0376154
Disease: Skin callus
Skin callus 		disease Skin and Connective Tissue Diseases Acquired Abnormality 154 0.010 None 1.000 1 2018 2018
CUI: C3278509
Disease: Spinal fusion
Spinal fusion 		disease Anatomical Abnormality 67 2 0.020 None 1.000 2 2015 2019
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 3 2018 2018
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.010 None 1.000 1 2020 2020
CUI: C2931150
Disease: Synostotic Anterior Plagiocephaly
Synostotic Anterior Plagiocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 16 0.320 None 1.000 3 1999 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.020 None 1.000 2 2017 2019
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 43 8 0.310 None 1.000 2 2003 2006
CUI: C0030044
Disease: Acrocephaly
Acrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 35 0.300 None 1.000 1 2003 2003
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 25 7 0.010 None 1.000 1 2002 2002
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.300 None 1.000 1 2003 2003
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 52 7 0.300 None 1.000 1 2003 2003
CUI: C0332877
Disease: Congenital premature fusion
Congenital premature fusion 		disease Congenital Abnormality 6 1 0.010 None 1.000 1 1999 1999
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 35 13 0.010 None 1.000 1 2006 2006
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 28 5 0.300 None 1.000 1 2003 2003
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 488 90 0.560 None 1.000 7 2002 2020
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 82 66 0.030 None 1.000 3 2018 2019
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.020 None 1.000 2 2015 2019
CUI: C0003864
Disease: Arthritis
Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.010 None 1.000 1 2020 2020
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.010 None 1.000 1 2012 2012
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 478 60 0.010 None 1.000 1 2007 2007
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 52 22 0.010 None 1.000 1 2020 2020
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1458 827 0.010 None 1.000 1 2007 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		disease Digestive System Diseases Disease or Syndrome 1382 1147 0.010 None 1.000 1 2012 2012
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis 		disease Infections; Nervous System Diseases Disease or Syndrome 865 7 0.010 None 1.000 1 2018 2018
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.010 None 1.000 1 2016 2016