L1CAM, L1 cell adhesion molecule, 3897

N. diseases: 289; N. variants: 35
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: C0409346
Disease: Contracture of joint of thumb
Contracture of joint of thumb 		disease Musculoskeletal Diseases Acquired Abnormality 2 1 0.100 None 0
CUI: C0239337
Disease: Deformity of limb
Deformity of limb 		group Anatomical Abnormality 37 3 0.010 None 1.000 1 2006 2006
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.100 None 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.100 None 0
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus 		disease Nervous System Diseases Congenital Abnormality 39 0.100 None 1.000 10 2000 2019
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.200 None 1.000 10 1996 2015
CUI: C0266476
Disease: Congenital stenosis of aqueduct of Sylvius
Congenital stenosis of aqueduct of Sylvius 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 6 0.040 None 1.000 4 2001 2019
CUI: C0431886
Disease: Thumb in palm deformity
Thumb in palm deformity 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 3 2 0.030 None 1.000 3 2 1995 2005
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.020 None 1.000 2 2007 2011
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.020 None 1.000 2 2006 2019
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.020 None 1.000 2 2005 2005
CUI: C0018566
Disease: Congenital Hand Deformities
Congenital Hand Deformities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 15 0.300 None 1.000 1 1994 1994
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.110 None 1.000 1 2006 2006
CUI: C0266304
Disease: Double kidney (disorder)
Double kidney (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 6 0.010 None 1.000 1 2007 2007
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Congenital Abnormality 103 7 0.010 None 1.000 1 1995 1995
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 38 1 0.400 strong 1.000 1 2019 2019
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum 		disease Congenital Abnormality 25 3 0.010 None 1.000 1 2012 2012
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 285 44 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 109 45 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.100 None 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.100 None 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 2 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 284 39 0.100 None 0
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 20 24 1.000 None 0.984 61 20 1986 2020