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: 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
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder)
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 16 13 1.000 definitive 1.000 45 13 1986 2019
CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 2 0.700 strong 1.000 2 2 1986 2006
CUI: C0003537
Disease: Aphasia
Aphasia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 86 3 0.410 None 1.000 2 1994 2005
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: C0231688
Disease: Gait, Shuffling
Gait, Shuffling
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 28 2 0.400 None 1.000 1 1994 1994
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 123 41 0.340 strong 1.000 5 1995 2017
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.330 None 1.000 3 2011 2017
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.330 None 1.000 3 2011 2017
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.310 limited 1.000 1 2019 2019
CUI: C0235000
Disease: Gait, Broadened
Gait, Broadened
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 1994 1994
CUI: C0231687
Disease: Spastic gait
Spastic gait
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 62 9 0.300 None 1.000 1 1994 1994
CUI: C0234484
Disease: Aphasia, Syntactical
Aphasia, Syntactical
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 2 0.300 None 1.000 1 1994 1994
CUI: C0750920
Disease: Aphasia, Post-Traumatic
Aphasia, Post-Traumatic
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 2 0.300 None 1.000 1 1994 1994
CUI: C0234482
Disease: Aphasia, Semantic
Aphasia, Semantic
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 2 0.300 None 1.000 1 1994 1994
CUI: C0234476
Disease: Aphasia, Intellectual
Aphasia, Intellectual
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 2 0.300 None 1.000 1 1994 1994
CUI: C0234474
Disease: Aphasia, Graphomotor
Aphasia, Graphomotor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 2 0.300 None 1.000 1 1994 1994
CUI: C0234996
Disease: Gait, Rigid
Gait, Rigid
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 1994 1994
CUI: C0234472
Disease: Aphasia, Functional
Aphasia, Functional
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 2 0.300 None 1.000 1 1994 1994
CUI: C0231696
Disease: Gait, Hemiplegic
Gait, Hemiplegic
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 1994 1994
CUI: C0231698
Disease: Gait, Scissors
Gait, Scissors
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 12 1 0.300 None 1.000 1 1994 1994
CUI: C0231694
Disease: Gait, Festinating
Gait, Festinating
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 1994 1994
CUI: C0231693
Disease: Charcot Gait
Charcot Gait
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 1994 1994
CUI: C0231689
Disease: Gait, Athetotic
Gait, Athetotic
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 1994 1994
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