Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3897
Gene name Gene Name - the full gene name approved by the HGNC.	L1 cell adhesion molecule
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	L1CAM
Synonyms (NCBI Gene) Gene synonyms aliases	CAML1, CD171, HSAS, HSAS1, HYCX, MASA, MIC5, N-CAM-L1, N-CAML1, NCAM-L1, S10, SPG1
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq28
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane se

Show/Hide all(92)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933683	G>A,C,T	Pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs36021462	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs137852518	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852519	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852520	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852521	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852522	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852523	A>C	Pathogenic	Coding sequence variant, missense variant
rs137852524	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852525	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852526	G>A	Pathogenic	Coding sequence variant, missense variant
rs142563956	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs149309725	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149737236	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs200768501	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200809259	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200815347	A>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs202082978	G>A	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs377470679	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs398123360	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs398123361	->ACACCTGCC	Conflicting-interpretations-of-pathogenicity	Intron variant
rs398123362	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs398123364	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs782178366	G>A,T	Pathogenic, benign	Stop gained, coding sequence variant, missense variant
rs782235888	C>G,T	Likely-pathogenic	Terminator codon variant, stop lost, synonymous variant
rs782553641	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs782713149	->GTGC	Likely-pathogenic	Intron variant
rs797044787	G>A	Likely-pathogenic, pathogenic	Synonymous variant, coding sequence variant
rs797045673	G>A	Pathogenic	Stop gained, coding sequence variant
rs797045674	T>C	Pathogenic	Missense variant, coding sequence variant
rs863224494	T>A	Pathogenic	Stop gained, coding sequence variant
rs875989884	G>A	Pathogenic	Stop gained, coding sequence variant
rs878853099	T>C	Pathogenic	Splice acceptor variant
rs879253713	T>G	Pathogenic	Intron variant
rs879253714	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs879253715	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs879253716	C>G,T	Uncertain-significance, likely-pathogenic, pathogenic	Intron variant
rs879253717	G>A	Pathogenic	Stop gained, coding sequence variant
rs879253724	C>G	Pathogenic	Splice acceptor variant
rs886039404	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs886039405	C>T	Pathogenic	Intron variant
rs886039406	G>A	Pathogenic	Intron variant
rs886039407	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs886039408	G>A	Pathogenic	Missense variant, coding sequence variant
rs886039409	C>T	Pathogenic	Missense variant, coding sequence variant
rs886039410	G>T	Pathogenic	Stop gained, coding sequence variant
rs886039411	C>T	Pathogenic	Splice donor variant
rs886041102	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs886041704	G>C	Pathogenic	Stop gained, coding sequence variant
rs1064793162	G>C	Pathogenic	Missense variant, coding sequence variant
rs1064793163	G>A	Pathogenic	Coding sequence variant, stop gained
rs1064793164	C>A	Likely-pathogenic	Intron variant
rs1064793801	C>T	Pathogenic	Splice donor variant
rs1064793920	C>G	Pathogenic	Splice donor variant
rs1064796541	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691594	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1131691666	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1131691900	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691964	G>C	Pathogenic	Coding sequence variant, stop gained
rs1418885000	G>A	Pathogenic	Stop gained, coding sequence variant
rs1557090143	G>C	Pathogenic	Stop gained, coding sequence variant
rs1557090161	G>C	Pathogenic	Stop gained, coding sequence variant
rs1557090220	C>G	Likely-pathogenic	Splice donor variant
rs1557090314	GG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557090943	C>T	Likely-pathogenic	Intron variant
rs1557091079	TCCATCCACCGGAGCGGCTGGAGGAGGCCAGCAGAAGAGGAGTTGGTTGGCCAAGAACACCAG>-	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs1557091278	C>T	Likely-pathogenic	Splice donor variant
rs1557091377	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557091629	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557091678	C>T	Pathogenic	Splice acceptor variant
rs1557091773	G>A	Pathogenic	Stop gained, coding sequence variant
rs1557092042	C>T	Pathogenic	Stop gained, coding sequence variant
rs1557092247	C>T	Likely-pathogenic	Splice donor variant
rs1557092248	G>A	Pathogenic	Stop gained, coding sequence variant
rs1557092418	->ATATA	Pathogenic	Frameshift variant, coding sequence variant
rs1557092743	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1557092994	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557094409	C>T	Pathogenic	Stop gained, coding sequence variant
rs1569544629	A>C	Pathogenic	Coding sequence variant, stop gained
rs1569544723	G>A	Pathogenic	Coding sequence variant, stop gained
rs1569544908	C>T	Pathogenic	Intron variant
rs1603273984	C>T	Pathogenic	Splice donor variant
rs1603274308	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603274424	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1603275195	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603275315	TCACTTGTCACTGTCC>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1603275538	C>T	Pathogenic	Splice acceptor variant
rs1603276024	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603276146	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1603276234	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1603277417	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603277433	C>T	Likely-pathogenic	Initiator codon variant, missense variant

Show/Hide all(108)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019015	hsa-miR-335-5p	Microarray	18185580
MIRT023076	hsa-miR-124-3p	Microarray	18668037
MIRT024085	hsa-miR-1-3p	Proteomics	18668040
MIRT030212	hsa-miR-26b-5p	Microarray	19088304
MIRT032036	hsa-miR-16-5p	Proteomics	18668040
MIRT035533	hsa-miR-146a-5p	Luciferase reporter assay	22711166
MIRT437404	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24497324
MIRT702320	hsa-miR-493-5p	HITS-CLIP	21572407
MIRT702316	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT702315	hsa-miR-5003-3p	HITS-CLIP	21572407
MIRT702314	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT702313	hsa-miR-656-3p	HITS-CLIP	21572407
MIRT702312	hsa-miR-3145-3p	HITS-CLIP	21572407
MIRT702311	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT702310	hsa-miR-3924	HITS-CLIP	21572407
MIRT702306	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT702320	hsa-miR-493-5p	HITS-CLIP	21572407
MIRT702316	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT702315	hsa-miR-5003-3p	HITS-CLIP	21572407
MIRT702314	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT702313	hsa-miR-656-3p	HITS-CLIP	21572407
MIRT702312	hsa-miR-3145-3p	HITS-CLIP	21572407
MIRT702311	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT702310	hsa-miR-3924	HITS-CLIP	21572407
MIRT702306	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT702320	hsa-miR-493-5p	HITS-CLIP	23313552
MIRT702319	hsa-miR-374a-5p	HITS-CLIP	23313552
MIRT702318	hsa-miR-374b-5p	HITS-CLIP	23313552
MIRT702317	hsa-miR-5571-5p	HITS-CLIP	23313552
MIRT702316	hsa-miR-5580-3p	HITS-CLIP	23313552
MIRT702315	hsa-miR-5003-3p	HITS-CLIP	23313552
MIRT702314	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT702313	hsa-miR-656-3p	HITS-CLIP	23313552
MIRT702312	hsa-miR-3145-3p	HITS-CLIP	23313552
MIRT702311	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT702310	hsa-miR-3924	HITS-CLIP	23313552
MIRT702309	hsa-miR-3192-3p	HITS-CLIP	23313552
MIRT702308	hsa-miR-4762-3p	HITS-CLIP	23313552
MIRT702307	hsa-miR-129-5p	HITS-CLIP	23313552
MIRT702306	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT702320	hsa-miR-493-5p	HITS-CLIP	21572407
MIRT702316	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT702315	hsa-miR-5003-3p	HITS-CLIP	21572407
MIRT702314	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT702313	hsa-miR-656-3p	HITS-CLIP	21572407
MIRT702312	hsa-miR-3145-3p	HITS-CLIP	21572407
MIRT702311	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT702310	hsa-miR-3924	HITS-CLIP	21572407
MIRT702306	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT702320	hsa-miR-493-5p	HITS-CLIP	21572407
MIRT702316	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT702315	hsa-miR-5003-3p	HITS-CLIP	21572407
MIRT702314	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT702313	hsa-miR-656-3p	HITS-CLIP	21572407
MIRT702312	hsa-miR-3145-3p	HITS-CLIP	21572407
MIRT702311	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT702310	hsa-miR-3924	HITS-CLIP	21572407
MIRT702306	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT702320	hsa-miR-493-5p	HITS-CLIP	23313552
MIRT702319	hsa-miR-374a-5p	HITS-CLIP	23313552
MIRT702318	hsa-miR-374b-5p	HITS-CLIP	23313552
MIRT702317	hsa-miR-5571-5p	HITS-CLIP	23313552
MIRT702316	hsa-miR-5580-3p	HITS-CLIP	23313552
MIRT702315	hsa-miR-5003-3p	HITS-CLIP	23313552
MIRT702314	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT702313	hsa-miR-656-3p	HITS-CLIP	23313552
MIRT702312	hsa-miR-3145-3p	HITS-CLIP	23313552
MIRT702311	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT702310	hsa-miR-3924	HITS-CLIP	23313552
MIRT702309	hsa-miR-3192-3p	HITS-CLIP	23313552
MIRT702308	hsa-miR-4762-3p	HITS-CLIP	23313552
MIRT702307	hsa-miR-129-5p	HITS-CLIP	23313552
MIRT702306	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT1102561	hsa-miR-1225-5p	CLIP-seq
MIRT1102562	hsa-miR-1324	CLIP-seq
MIRT1102563	hsa-miR-147	CLIP-seq
MIRT1102564	hsa-miR-329	CLIP-seq
MIRT1102565	hsa-miR-3614-5p	CLIP-seq
MIRT1102566	hsa-miR-362-3p	CLIP-seq
MIRT1102567	hsa-miR-3677-5p	CLIP-seq
MIRT1102568	hsa-miR-3714	CLIP-seq
MIRT1102569	hsa-miR-3911	CLIP-seq
MIRT1102570	hsa-miR-3941	CLIP-seq
MIRT1102571	hsa-miR-4633-3p	CLIP-seq
MIRT1102572	hsa-miR-4704-5p	CLIP-seq
MIRT1102573	hsa-miR-4717-5p	CLIP-seq
MIRT1102574	hsa-miR-4764-5p	CLIP-seq
MIRT1102575	hsa-miR-4802-5p	CLIP-seq
MIRT1102576	hsa-miR-541	CLIP-seq
MIRT1102577	hsa-miR-603	CLIP-seq
MIRT1102578	hsa-miR-644	CLIP-seq
MIRT1102579	hsa-miR-654-5p	CLIP-seq
MIRT1102580	hsa-miR-885-3p	CLIP-seq
MIRT1102581	hsa-miR-890	CLIP-seq
MIRT1102582	hsa-miR-4652-3p	CLIP-seq
MIRT1102583	hsa-miR-656	CLIP-seq
MIRT2028085	hsa-miR-1913	CLIP-seq
MIRT2028086	hsa-miR-324-3p	CLIP-seq
MIRT2028087	hsa-miR-4731-5p	CLIP-seq
MIRT2259253	hsa-miR-196a	CLIP-seq
MIRT2259254	hsa-miR-196b	CLIP-seq
MIRT1102565	hsa-miR-3614-5p	CLIP-seq
MIRT1102573	hsa-miR-4717-5p	CLIP-seq
MIRT1102574	hsa-miR-4764-5p	CLIP-seq
MIRT1102581	hsa-miR-890	CLIP-seq
MIRT2028085	hsa-miR-1913	CLIP-seq
MIRT2028086	hsa-miR-324-3p	CLIP-seq
MIRT1102583	hsa-miR-656	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
PAX2	Unknown	21880579
TFAP2A	Unknown	12077189

Show/Hide all(39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	18321067
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20621658
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006935	Process	Chemotaxis	TAS	19909241
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	NAS	7920659
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA
GO:0007160	Process	Cell-matrix adhesion	IDA	22973895
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	1769655
GO:0007411	Process	Axon guidance	IDA	24155914
GO:0008046	Function	Axon guidance receptor activity	IBA
GO:0009986	Component	Cell surface	HDA	19581412
GO:0009986	Component	Cell surface	IDA	22973895
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IDA	22973895
GO:0019904	Function	Protein domain specific binding	IDA	18321067
GO:0030154	Process	Cell differentiation	IEA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IDA	20621658
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030426	Component	Growth cone	IEA
GO:0031012	Component	Extracellular matrix	HDA	27559042
GO:0031175	Process	Neuron projection development	IDA	22973895
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IBA
GO:0043025	Component	Neuronal cell body	IDA	20621658
GO:0044295	Component	Axonal growth cone	ISS
GO:0045773	Process	Positive regulation of axon extension	ISS
GO:0050808	Process	Synapse organization	IBA
GO:0050808	Process	Synapse organization	IDA	24155914
GO:0050808	Process	Synapse organization	IEA
GO:0061564	Process	Axon development	IDA	20621658
GO:0061564	Process	Axon development	IEA

MIM	HGNC	e!Ensembl
308840	6470	ENSG00000198910

Protein

UniProt ID

P32004

Protein name

Neural cell adhesion molecule L1 (N-CAM-L1) (NCAM-L1) (CD antigen CD171)

Protein function

Neural cell adhesion molecule involved in the dynamics of cell adhesion and in the generation of transmembrane signals at tyrosine kinase receptors. During brain development, critical in multiple processes, including neuronal migration, axonal g

PDB

8AFO , 8AFP

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13927	Ig_3	34 → 118		Domain
PF13927	Ig_3	239 → 316		Domain
PF07679	I-set	333 → 421	Immunoglobulin I-set domain	Domain
PF07679	I-set	428 → 514	Immunoglobulin I-set domain	Domain
PF07679	I-set	518 → 608	Immunoglobulin I-set domain	Domain
PF00041	fn3	613 → 701	Fibronectin type III domain	Domain
PF00041	fn3	716 → 800	Fibronectin type III domain	Domain
PF00041	fn3	813 → 907	Fibronectin type III domain	Domain
PF00041	fn3	919 → 1004	Fibronectin type III domain	Domain
PF13882	Bravo_FIGEY	1144 → 1233	Bravo-like intracellular region	Domain

Sequence

MVVALRYVWPLLLCSPCLLIQIPEEYEGHHVMEPPVITEQSPRRLVVFPTDDISLKCEAS
GKPEVQFRWTRDGVHFKPKEELGVTVYQSPHSGSFTITGNNSNFAQRFQGIYRCFASNKL
GTAMSHEIRLMAEGAPKWPKETVKPVEVEEGESVVLPCNPPPSAEPLRIYWMNSKILHIK
QDERVTMGQNGNLYFANVLTSDNHSDYICHAHFPGTRTIIQKEPIDLRVKATNSMIDRKP
RLLFPTNSSSHLVALQGQPLVLECIAEGFPTPTIKWLRPSGPMPADRVTYQNHNKTLQLL
KVGEEDDGEYRCLAENSLGSARHAYYVTVEAAPYWLHKPQSHLYGPGETARLDCQVQGRP
QPEVTWRINGIPVEELAKDQKYRIQRGALILSNVQPSDTMVTQCEARNRHGLLLANAYIY
VVQLPAKILTADNQTYMAVQGSTAYLLCKAFGAPVPSVQWLDEDGTTVLQDERFFPYANG
TLGIRDLQANDTGRYFCLAANDQNNVTIMANLKVKDATQITQGPRSTIEKKGSRVTFTCQ
ASFDPSLQPSITWRGDGRDLQELGDSDKYFIEDGRLVIHSLDYSDQGNYSCVASTELDVV
ESRAQLLVVGSPGPVPRLVLSDLHLLTQSQVRVSWSPAEDHNAPIEKYDIEFEDKEMAPE
KWYSLGKVPGNQTSTTLKLSPYVHYTFRVTAINKYGPGEPSPVSETVVTPEAAPEKNPVD
VKGEGNETTNMVITWKPLRWMDWNAPQVQYRVQWRPQGTRGPWQEQIVSDPFLVVSNTST
FVPYEIKVQAVNSQGKGPEPQVTIGYSGEDYPQAIPELEGIEILNSSAVLVKWRPVDLAQ
VKGHLRGYNVTYWREGSQRKHSKRHIHKDHVVVPANTTSVILSGLRPYSSYHLEVQAFNG
RGSGPASEFTFSTPEGVPGHPEALHLECQSNTSLLLRWQPPLSHNGVLTGYVLSYHPLDE
GGKGQLSFNLRDPELRTHNLTDLSPHLRYRFQLQATTKEGPGEAIVREGGTMALSGISDF
GNISATAGENYSVVSWVPKEGQCNFRFHILFKALGEEKGGASLSPQYVSYNQSSYTQWDL
QPDTDYEIHLFKERMFRHQMAVKTNGTGRVRLPPAGFATEGWFIGFVSAIILLLLVLLIL
CFIKRSKGGKYSVKDKEDTQVDSEARPMKDETFGEYRSLESDNEEKAFGSSQPSLNGDIK
PLGSDDSLADYGGSVDVQFNEDGSFIGQYSGKKEKEAAGGNDSSGATSPINPAVALE

Sequence length

1257

Interactions

View interactions

	KEGG		Reactome
	Axon guidance Cell adhesion molecules		Basigin interactions L1CAM interactions Recycling pathway of L1 Interaction between L1 and Ankyrins Signal transduction by L1

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Complicated Corpus Callosum Dysgenesis, X-Linked	x-linked complicated corpus callosum dysgenesis	rs797045673, rs137852526, rs367665974	N/A
Hydrocephalus Syndrome, X-Linked	x-linked hydrocephalus syndrome	rs879253724, rs797044787, rs886039407, rs137852520, rs137852524, rs879253715, rs137852525, rs137852521, rs1603274424, rs1603277433, rs797045673, rs886041102, rs879253716, rs1603275538, rs1064793163 View all (6 more)	N/A
Hydrolethalus Syndrome	Hydrocephalus due to aqueductal stenosis	rs1557090161, rs137852520, rs797045674, rs797045673	N/A
MASA Syndrome	masa syndrome	rs137852519, rs1557091773, rs879253714, rs137852522, rs137852523, rs137852526, rs28933683, rs137852524	N/A
Spastic Paraplegia	spastic paraplegia	rs1569544723, rs201311640, rs886039409, rs137852524, rs1418885000, rs1557090161, rs797044787, rs1603275195, rs886039407, rs1557092247, rs1603276234, rs886039408, rs137852520, rs1557092248, rs1603275315 View all (17 more)	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Dyslexia	Dyslexia	N/A	N/A	GWAS
Hereditary spastic paraplegia	Hereditary spastic paraplegia	N/A	N/A	ClinVar
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	X-linked hydrocephalus with stenosis of the aqueduct of Sylvius	N/A	N/A	GenCC
Spastic Paraplegia, X-Linked	X-linked complicated spastic paraplegia type 1	N/A	N/A	GenCC

Show/Hide Text Mining Associations (144)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adducted Thumbs Syndrome	Associate	31756056, 9643285, 9832035
Adenocarcinoma	Associate	21985405, 36452120
Adenocarcinoma of Lung	Associate	35003395, 35525225
Adenomatoid Tumor	Associate	29148537
Agenesis of Corpus Callosum	Associate	32416898, 34914080, 39239799, 9266556, 9832035
Allanson Pantzar McLeod syndrome	Associate	34510796
Alzheimer Disease	Associate	32501971
Amyotrophic Lateral Sclerosis	Associate	37042019
Anhedonia	Associate	32536688
Anorchia	Associate	27419370
Aphasia	Associate	27001749
Arthrogryposis	Associate	31504653
Autism Spectrum Disorder	Associate	24893065
Brain Neoplasms	Associate	30235708, 35003395, 35525225
Brain Stem Neoplasms	Associate	34510796
Breast Neoplasms	Associate	22983139, 25510351, 26464672, 29510897, 34315723
Callosities	Associate	34510796
Carcinoma Endometrioid	Associate	26891628, 27488577, 27505134, 27648714, 30557309
Carcinoma Hepatocellular	Associate	22888955, 36477196, 38049860
Carcinoma in Situ	Associate	36509990
Carcinoma Non Small Cell Lung	Associate	21985405, 33084148, 37652510, 37712645
Carcinoma Ovarian Epithelial	Associate	19661372, 29980240
Carcinoma Pancreatic Ductal	Stimulate	24746181
Carcinoma Pancreatic Ductal	Associate	24797069, 32291413
Carcinoma Papillary	Associate	30171198
Carcinoma Renal Cell	Associate	29215599
Carcinoma Squamous Cell	Stimulate	21985405
Carcinoma Squamous Cell	Associate	27028855, 36516959
Carcinosarcoma	Associate	30140948
Cardiomyopathy infantile histiocytoid	Associate	38460672
Cell Transformation Neoplastic	Stimulate	29328367
Cell Transformation Neoplastic	Associate	36293469
Central Nervous System Vascular Malformations	Associate	32416898
Cerebral Ventricle Neoplasms	Associate	35791503
Cholangiocarcinoma	Associate	28535665
Choroidal Effusions	Stimulate	37478615
Colonic Neoplasms	Associate	7562969
Colorectal Neoplasms	Associate	31038663, 33167483, 35395711, 36510452
Colorectal Neoplasms	Inhibit	32356487
Congenital Abnormalities	Associate	32416898
Cysts	Associate	30235708
Death	Associate	27488577, 27695947
Depressive Disorder Major	Associate	32536688
Developmental Disabilities	Associate	32416898
Diabetes Mellitus Type 2	Associate	28427244
Diastrophic dysplasia	Associate	24690944
Dystonic Disorders	Associate	37182269
Ectodermal Dysplasia	Associate	9643285
Ectrodactyly Ectodermal Dysplasia And Cleft Lip Palate Syndrome 1	Associate	26891628
Endometrial Neoplasms	Associate	23530769, 24497324, 26743472, 26861585, 27233077, 27488577, 27505134, 27648714, 27695947, 28424422, 28751757, 29059097, 29324536, 29980240, 30050154 View all (9 more)
Endometriosis	Associate	20137787
Ependymoma	Associate	34812989
Fallopian Tube Neoplasms	Associate	36509990
Fetal Alcohol Spectrum Disorders	Associate	39239799
Fetal Diseases	Associate	37489051
Gastrointestinal Stromal Tumors	Associate	16400320, 27419370
Genetic Diseases Inborn	Associate	9279760
Glioblastoma	Associate	20419098, 21297581, 30235708, 30467961
Glioma	Associate	18492260, 31510944, 32509846, 36708044, 9577364
Glucose Intolerance	Associate	28846711
Glucosephosphate Dehydrogenase Deficiency	Associate	23530769
Head and Neck Neoplasms	Associate	29467336
Hirschsprung Disease	Associate	19300444, 19641926, 20860806, 9279760
Hydrocephalus	Stimulate	22186713, 28212403
Hydrocephalus	Associate	27001749, 28460636, 29499638, 31504653, 32416898, 34092257, 34510796, 34914080, 35791503, 37280765, 37489051, 9266556, 9279760, 9832035
Hydrocephalus X linked	Associate	19300444, 19641926, 31756056, 7562969, 7762552, 8474107, 8728703, 8929944, 9266556, 9279760, 9610803, 9643285, 9832035
Hyperparathyroidism Neonatal Severe Primary	Associate	20860806
Hypertension Pulmonary	Associate	20081107
Hypopituitarism	Associate	31504653
Hypoxia	Associate	15026807
Hypoxia	Stimulate	29215599
Hypoxia Brain	Associate	34599215, 35603379
Insulin Resistance	Associate	32536688
Intellectual Disability	Associate	16080119, 27001749, 9643285, 9832035
Kidney Tubular Necrosis Acute	Associate	18059459
Leukoencephalopathies	Associate	34510796
Lung Neoplasms	Associate	39201435
Lymphatic Metastasis	Associate	24422715, 28751757, 29059097, 33858677, 36142656
Lymphatic Metastasis	Stimulate	26464672, 36825596
Lymphoma Non Hodgkin	Associate	37478615, 38460672
Lymphoproliferative Syndrome X Linked 2	Associate	7562969
Mannose Binding Protein Deficiency	Associate	32052928
MASA (Mental Retardation Aphasia Shuffling Gait Adducted Thumbs) Syndrome	Associate	31504653, 32416898, 34510796, 34914080, 35791503, 37489051, 7562969, 7762552, 9222959, 9266556, 9610803, 9643285
Medulloblastoma	Associate	26497209
Melanoma	Inhibit	19270649
Melanoma	Associate	19865098, 20357814, 35672380, 36142656, 37286800
Melanoma Cutaneous Malignant	Associate	33082316
Mental Disorders	Associate	25809424
Mental Retardation X Linked	Associate	9643285
Mesothelioma Malignant	Associate	27419370
Microvascular Angina	Associate	38049860
Movement Disorders	Associate	40537080
Neoplasm Metastasis	Associate	21985405, 22983139, 24497324, 26743472, 26811494, 27028855, 29510897, 30356126, 33167483, 35003395, 35525225, 35603379, 36825596, 37116166, 37239955
Neoplasm Metastasis	Stimulate	31754264
Neoplasms	Associate	12892712, 15446585, 15677537, 16400320, 21600041, 21985405, 22228447, 22888955, 22983139, 23530769, 24166603, 24422715, 24497324, 26464672, 26497209 View all (37 more)
Neoplasms	Inhibit	17869320, 32291413
Neoplasms	Stimulate	37652517
Neoplasms Cystic Mucinous and Serous	Stimulate	26861585
Neoplasms Neuroepithelial	Associate	15677537
Neurilemmoma	Stimulate	27419370
Neuroblastoma	Associate	27419370, 32296437, 37943774
Neurocytoma	Associate	37088465
Neuroectodermal Tumors	Associate	27419370
Neuroendocrine Tumors	Associate	35048633
Neurofibroma Plexiform	Associate	15255999
Neurofibrosarcoma	Inhibit	15255999
Neurologic Manifestations	Associate	37489051
Nevus	Inhibit	19270649
Osteosarcoma	Associate	25536034
Ovarian Neoplasms	Associate	16229685, 19661372, 22228447, 24166603, 27174921, 27419370, 34711431, 36509990, 36561981, 37478615
Pancreatic Neoplasms	Associate	21071578, 21080252, 24746181, 25860483
Pancreatic Neoplasms	Inhibit	32291413
Pancreatitis Chronic	Stimulate	24797069
Paraganglioma	Associate	27419370
Paraplegia	Associate	9832035
Parkinson Disease	Associate	27028855, 38048087
Parkinsonian Disorders	Associate	39273702
Pelvic Infection	Associate	30356126
Peritonitis	Associate	31754264
Personality Disorders	Stimulate	28751757
Pituitary Diseases	Associate	31504653
Prostatic Neoplasms	Associate	24505114
Pulmonary Arterial Hypertension	Associate	20081107
Pulmonary Fibrosis	Associate	37822112
Retinoblastoma	Associate	31500597, 36293469
Schaaf Yang syndrome	Associate	31504653
Small Cell Lung Carcinoma	Associate	39201435
Spastic paraplegia 2 X linked	Associate	7562969, 9266556
Spastic Paraplegia Hereditary	Associate	32501971, 7762552, 9643285
Squamous Cell Carcinoma of Head and Neck	Associate	29467336, 34599215, 36825596
Stomach Neoplasms	Associate	24422715, 26811494, 31754264, 35241494
Supratentorial Neoplasms	Associate	31375768
Tachycardia Atrioventricular Nodal Reentry	Associate	27505134
Tertiary Lymphoid Structures	Stimulate	27648714
Tertiary Lymphoid Structures	Associate	29059097, 29510897, 30557309
Testicular Neoplasms	Associate	23530769
Thymoma	Associate	27565906
Triple Negative Breast Neoplasms	Associate	25510351, 32019858
Trochlear Nerve Diseases	Stimulate	37478615
Turcot syndrome	Associate	32060377
Urethral Neoplasms	Associate	27749842
Uterine Cervical Neoplasms	Inhibit	17869320
Uterine Neoplasms	Associate	15785748
Uveal melanoma	Associate	35672380

L1CAM (L1 cell adhesion molecule)