L1CAM, L1 cell adhesion molecule, 3897

N. diseases: 289; N. variants: 35
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		1.000 GeneticVariation disease CLINVAR
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		1.000 CausalMutation disease CLINVAR
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 CausalMutation disease CLINVAR
CUI: C1839909
Disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED
CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED 		0.700 CausalMutation disease CLINVAR
CUI: C1839909
Disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED
CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED 		0.700 Biomarker disease CTD_human
CUI: C0003537
Disease: Aphasia
Aphasia 		0.410 Biomarker disease HPO
CUI: C0231688
Disease: Gait, Shuffling
Gait, Shuffling 		0.400 Biomarker phenotype HPO
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum 		0.400 Biomarker disease HPO
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.200 Biomarker disease HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.200 Biomarker disease HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.200 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 Biomarker group HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.140 Biomarker phenotype HPO
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		0.140 Biomarker disease HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.130 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO
CUI: C0024003
Disease: Lordosis
Lordosis 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO