L1CAM (L1 cell adhesion molecule)

Gene

• Entrez ID: 3897
• Gene name: L1 cell adhesion molecule
• Gene symbol: L1CAM
• Synonyms (NCBI Gene): CAML1, CD171, HSAS, HSAS1, HYCX, MASA, MIC5, N-CAM-L1, N-CAML1, NCAM-L1, S10, SPG1
• Chromosome: X
• Chromosome location: Xq28
• Summary: 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

SNPs

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

miRNA

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

Transcription factor	Regulation	Reference
PAX2	Unknown	21880579
TFAP2A	Unknown	12077189

Gene ontology (GO)

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

Other IDs

• MIM: 308840
• HGNC: 6470
• e!Ensembl: 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

Pathways

KEGG:

Axon guidance
Cell adhesion molecules

Reactome:

Basigin interactions
L1CAM interactions
Recycling pathway of L1
Interaction between L1 and Ankyrins
Signal transduction by L1

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Congenital cerebellar hypoplasia	Likely pathogenic; Pathogenic	rs137852526	RCV001257991	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs2148493825	RCV001559326	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction	Pathogenic	rs879253717	RCV000010682	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrops fetalis	Likely pathogenic; Pathogenic	rs137852522	RCV001257378	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs2064692485	RCV001257682	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
L1 syndrome	Likely pathogenic; Pathogenic	rs2148491960, rs2520985599, rs2520978838, rs2520995503, rs797045673, rs875989884, rs137852520, rs137852521, rs137852525, rs137852526, rs2520956366, rs886039408, rs886039405, rs886039406, rs2520950239, rs1557092247, rs1603276024, rs1603273984, rs367665974, rs2064692244, rs2064703218	RCV005058206 RCV002281879 RCV002308615 RCV002510468 RCV002509289 RCV002229193 RCV001553633 RCV001824565 RCV006249553 RCV004689412 RCV003226113 RCV001251391 RCV001582904 RCV001553632 RCV003988256 RCV001260406 RCV000790408 RCV000790407 RCV002239304 RCV001251323 RCV001290587	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
L1CAM-related disorder	Likely pathogenic; Pathogenic	rs2148491960, rs797044787, rs137852526, rs2521002176, rs2520967604, rs2521016418, rs2520986296, rs2520971808, rs2521020218, rs1557091678	RCV003418432 RCV003407666 RCV005862707 RCV003391647 RCV003404552 RCV003397789 RCV003903922 RCV003939782 RCV003954585 RCV003403410	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
L1CAM-related disorders	Pathogenic; Likely pathogenic	rs137852524, rs1557091678	RCV004562202 RCV004559248	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MASA syndrome	Pathogenic; Likely pathogenic	rs2148493243, rs2148494128, rs28933683, rs137852519, rs879253714, rs137852522, rs137852523, rs137852524, rs137852526, rs886039408, rs886039405, rs2520972097, rs2520965527, rs782553641, rs1557091773, rs1418885000, rs2064747653, rs2064809181, rs201204893	RCV001843717 RCV002086744 RCV000010669 RCV000010670 RCV000010673 RCV000010675 RCV000010676 RCV000010677 RCV004527287 RCV005411393 RCV004796137 RCV003985987 RCV003986040 RCV005896269 RCV002298692 RCV005415340 RCV001260986 RCV001262132 RCV001290966	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular dystrophy, limb-girdle, autosomal recessive 23	Likely pathogenic	rs2521036025	RCV002307849	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic; Likely pathogenic	rs2521024663, rs2520995503	RCV005930337 RCV005932001	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs1603273984	RCV005901903	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe hydrocephalus	Likely pathogenic; Pathogenic	rs137852522	RCV001257378	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia	Pathogenic; Likely pathogenic	rs2148493879, rs2148494055, rs2148494096, rs111247323, rs2148496455, rs2148493891, rs2148495739, rs2148498736, rs137852518, rs2148498706, rs2520960421, rs2148494337, rs2521024663, rs2521043571, rs797044787, rs1557090220, rs2521003842, rs2521000590, rs2520961299, rs2520977730, rs863224494, rs2521025258, rs878853979, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs137852526, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs2521002176, rs2521011529, rs2148493825, rs2521039402, rs2520966032, rs2520970677, rs2521024495, rs1064793162, rs1064793920, rs1557090943, rs1557090161, rs1557092247, rs1557092248, rs1557091773, rs1557091678, rs1557091278, rs1569544908, rs1569544723, rs1418885000, rs1603275195, rs1603276234, rs1603275315, rs367665974, rs201311640, rs2064704974, rs1603273984, rs2064686873, rs2064766332	RCV001388276 RCV001388277 RCV001385394 RCV002570843 RCV002036511 RCV001904362 RCV002017926 RCV001864298 RCV001914751 RCV001967213 RCV003066407 RCV003050675 RCV003066409 RCV003066410 RCV005089898 RCV002838649 RCV002857289 RCV002847470 RCV002899064 RCV002877056 RCV000195759 RCV002979749 RCV000233987 RCV000685761 RCV003588560 RCV000815545 RCV003588561 RCV000794947 RCV003588562 RCV000633025 RCV003588606 RCV001855005 RCV001063204 RCV000470870 RCV001855004 RCV003750967 RCV003590769 RCV003588531 RCV003588533 RCV003751669 RCV003751986 RCV003751969 RCV002525764 RCV002526546 RCV001234704 RCV003750800 RCV001221488 RCV000792269 RCV001044106 RCV005091582 RCV000633045 RCV000633014 RCV000693176 RCV000685478 RCV000802301 RCV000813993 RCV000794906 RCV000817263 RCV001040041 RCV001069390 RCV001210967 RCV001206057 RCV001239298 RCV001228655	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs2148493243, rs2520977730, rs2520966032	RCV005922773 RCV005928665 RCV005931643	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked complicated corpus callosum dysgenesis	Pathogenic; Likely pathogenic	rs782712766, rs2520956160, rs797045673, rs137852526, rs886039405, rs782553641, rs367665974	RCV001824277 RCV002290196 RCV000714717 RCV000010684 RCV004796137 RCV005896269 RCV001809962	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked hydrocephalus syndrome	Pathogenic; Likely pathogenic	rs1557090220, rs2148494128, rs2520985267, rs2521001058, rs2520984340, rs2148498765, rs2148495027, rs2520999577, rs797044787, rs797045674, rs797045673, rs875989884, rs2520975915, rs879253713, rs137852518, rs137852520, rs137852521, rs137852522, rs137852524, rs879253715, rs137852525, rs879253716, rs137852526, rs886039407, rs886039405, rs886041102, rs2520972097, rs2520965527, rs1262433336, rs2520986268, rs2521024037, rs782553641, rs879253724, rs1064793801, rs1064793163, rs1557090161, rs1603274424, rs1603277433, rs1603275538, rs367665974, rs2064782292	RCV001848629 RCV004785466 RCV002291800 RCV002291801 RCV002291802 RCV002272933 RCV002274447 RCV002471556 RCV000180160 RCV006270229 RCV000714718 RCV000211546 RCV003219194 RCV000010666 RCV000010667 RCV000010671 RCV000010672 RCV000010674 RCV001198070 RCV003151717 RCV003151718 RCV003151719 RCV000010683 RCV001391257 RCV004796137 RCV000258946 RCV003985987 RCV003986040 RCV003989032 RCV004577312 RCV004594862 RCV005896269 RCV000022879 RCV005603628 RCV001262258 RCV006270232 RCV000990983 RCV000990984 RCV001027729 RCV004594241 RCV001261519	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Aganglionic megacolon	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APHASIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APHASIA, POST ICTAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar ataxia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMISURAL APHASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HAND DEFORMITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE LICHTHEIM PHENOMENON	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSPHASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary ataxia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROCEPHALUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROCEPHALUS, CONGENITAL, X-LINKED	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROCEPHALUS, X-LINKED	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral neuropathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNTACTICAL APHASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED COMPLICATED SPASTIC PARAPLEGIA TYPE 1	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acne	Acne	BEFREE	28218057		★☆☆☆☆ Found in Text Mining only
Acrocallosal Syndrome	Acrocallosal Syndrome	BEFREE	18485929		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	21985405		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	19082495, 25230579		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	20937862		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	11968085		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	11857550, 16088863, 16816908, 17294222, 17882438, 23820807, 25948108, 8826452, 9266556, 9643285		★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	32416898, 34914080, 39239799, 9266556, 9832035	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32501971	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	37042019	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	22472175		★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	Pubtator	32536688	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	19082495, 19435915, 19893036, 21109948, 30171263		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	BEFREE	15904436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aphasia	Aphasia	Pubtator	27001749	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aphasia	Aphasia	CTD_human_DG	7920660		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aphasia	Aphasia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aphasia, Acquired	Aphasia	CTD_human_DG	7920660		★☆☆☆☆ Found in Text Mining only
Aphasia, Global	Aphasia	CTD_human_DG	7920660		★☆☆☆☆ Found in Text Mining only
Aphasia, Mixed	Aphasia	CTD_human_DG	7920660		★☆☆☆☆ Found in Text Mining only
Aphasia, Progressive	Aphasia	CTD_human_DG	7920660		★☆☆☆☆ Found in Text Mining only
Aqueductal Stenosis	Aqueductal Stenosis	BEFREE	11787037, 11857550, 30996265, 31393094		★☆☆☆☆ Found in Text Mining only
Aqueductal Stenosis	Aqueductal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	31504653		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	GENOMICS_ENGLAND_DG	31504653		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	31504653	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	24893065	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	24893065		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	31196716		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	18676824, 30235708		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	LHGDN	18676824		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	30235708, 35003395, 35525225	Associate	★☆☆☆☆ Found in Text Mining only
Brain Stem Neoplasms	Brain stem neoplasms	Pubtator	34510796	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22921864, 25510351		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22983139, 25510351, 26464672, 29510897, 34315723	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15709188, 20215505, 20237819, 20543863, 20799950, 22228447, 23530769, 25149066, 27695947, 27832351, 28221216, 28625395, 29980240, 30591489, 31054899		★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	26891628, 27488577, 27505134, 27648714, 30557309	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22888955, 36477196, 38049860	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	36509990	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22307136, 9431455		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	19661372, 29980240	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	24746181	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	24797069, 32291413	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	29215599	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	21985405	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	27028855, 36516959	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	28221216		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19661372, 20215505, 21541352, 22228447, 26761817, 28625395		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	30140948	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	28702325		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29152102		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29152102		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28166242, 31337646		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	28535665	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	21097529		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	30610738		★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	21097529		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	19144458		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	17699774, 18847309		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	7562969	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19639167, 20501702, 21685041, 22349829, 31532272		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17211730, 17873897		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31038663, 33167483, 35395711, 36510452	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32356487	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	32416898	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	7778187		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hand Deformities	Congenital anomaly of the hand	CTD_human_DG	7920660		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hydrocephalus	Congenital Hydrocephalus	BEFREE	10632110, 10797421, 22354677, 23220544, 24668863, 25948108, 27001749, 28556411, 29499638, 31393094		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21097529, 25149066, 28428626		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	21097529		★☆☆☆☆ Found in Text Mining only
CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED	Corpus Callosum, Partial Agenesis, X-Linked	UNIPROT_DG	16650080		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED	Corpus Callosum, Partial Agenesis, X-Linked	GENOMICS_ENGLAND_DG	3460961		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED	Corpus Callosum, Partial Agenesis, X-Linked	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED	Corpus Callosum, Partial Agenesis, X-Linked	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	BEFREE	17882438		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	29148537		★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	32536688	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32416898	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28427244	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28427244		★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	24690944	Associate	★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	22472175		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgenesis of corpus callosum	Dysplastic corpus callosum	BEFREE	22354677		★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	CTD_human_DG	7920660		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonic Disorders	Dystonia	Pubtator	37182269	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	9643285	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	15225093, 17030349, 20077528, 20799950, 23530769, 24497324, 26743472, 26861585, 27695947, 28424422, 28625395, 28710714, 28751757, 29059097, 29324536, 29456682, 29980240, 30050154, 30373551, 30557309, 30591489, 30814238, 30851892, 31054899, 31792716		★☆☆☆☆ Found in Text Mining only
Endometrial Diseases	Endometrial Diseases	BEFREE	30851892		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	23530769, 24497324, 26743472, 26861585, 27233077, 27488577, 27505134, 27648714, 27695947, 28424422, 28751757, 29059097, 29324536, 29980240, 30050154, 32413043, 33872388, 35296668, 35429348, 35707843, 36581816, 37116166, 39549540, 39963900	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	BEFREE	28625395		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	18332088		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	20137787	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	29266023, 29354850, 31308481		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	19661372		★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28535665		★☆☆☆☆ Found in Text Mining only
Familial Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	18485929, 19641926, 21961551, 22344793, 22354677, 26227058, 30738385, 31572438, 31756056		★☆☆☆☆ Found in Text Mining only
Gait Disorders, Neurologic	Gait disturbance	CTD_human_DG	7920660		★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	30400679		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	LHGDN	16400320		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	16400320, 27419370	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	20419098, 21297581, 30235708, 30467961	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21297581, 29228953, 30235708, 31426278, 31510944		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21297581, 29228953, 30235708, 31426278, 31510944		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	18492260, 31510944, 32509846, 36708044, 9577364	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	18676824, 31032901, 31510944		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	18676824		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	29467336	Associate	★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	BEFREE	9044401		★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	19357379, 24451228		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	11857550, 15148591, 16650080, 18485929, 19641926, 20860806, 21395909, 22344793, 22354677, 22648184, 9279760		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	LHGDN	11857550, 11897831, 15148591		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	19300444, 19641926, 20860806, 9279760	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	10797421, 11857550, 15148591, 15662685, 16088863, 17294222, 17882438, 19565280, 23820807, 27207492, 27571524, 30365056, 30842511, 31504653, 31756056, 31771992, 7920660, 8636066, 8786080, 9279760, 9440802		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus	Hydrocephalus	LHGDN	11438988, 12725590		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus	Hydrocephalus	Pubtator	22186713, 28212403	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus	Hydrocephalus	Pubtator	27001749, 28460636, 29499638, 31504653, 32416898, 34092257, 34510796, 34914080, 35791503, 37280765, 37489051, 9266556, 9279760, 9832035	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus	Hydrocephalus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus with stenosis of the aqueduct of Sylvius	Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1	Hydrocephalus	BEFREE	30365056		★☆☆☆☆ Found in Text Mining only
Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction	Hydrocephalus, X-Linked, With Congenital Idiopathic Intestinal Pseudoobstruction	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperparathyroidism Neonatal Severe Primary	Hyperparathyroidism	Pubtator	20860806	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	20081107	Associate	★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic Rickets	BEFREE	18485929, 19641926, 21961551, 22344793, 22354677, 26227058, 30738385, 31572438, 31756056		★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	BEFREE	31504653		★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	Pubtator	31504653	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	15662685, 15904436		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	15026807	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29215599	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	20081107		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	22349829		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	32536688	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	10797421, 16080119, 16987873, 17294222, 20237819, 22354677, 25934484, 30842511, 31756056, 7778187, 8782167, 8826452, 9744477		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	16080119, 27001749, 9643285, 9832035	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intestinal Pseudo-Obstruction	Intestinal Pseudoobstruction	BEFREE	15368500		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	22088438, 22248567, 28166242		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22888955		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	39201435	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	25149475		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24422715, 28751757, 29059097, 33858677, 36142656	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26464672, 36825596	Stimulate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	18676824		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22921864, 25510351		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	26743472, 26861585, 28424422, 28751757, 29324536, 29456682, 29980240, 30591489, 30851892, 31054899, 31792716		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	21097529		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22307136, 9431455		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	15706405, 20215505, 21541352, 22228447, 25149066, 26761817, 27832351, 28625395		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19435915, 25860483, 29525378, 30171263		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25294816		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22711166, 23806079, 24046108, 24422715		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	23530769, 30373551		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	22472175		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15706405, 17145883, 17299405, 18676824, 19144458, 21373966, 22718627, 22888955, 24046108, 24497324, 25230579, 25510351, 26111503, 27267927, 27390347, 27833079, 28026654, 28134764, 28504692, 29456682, 29510897, 31455004, 31510944, 31701335		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29152102		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	19144458		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	25510351		★☆☆☆☆ Found in Text Mining only
MASA syndrome	MASA Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MASA SYNDROME (disorder)	MASA syndrome	UNIPROT_DG	10797421, 10805190, 11857550, 16816908, 19846429, 22344793, 22973895, 24155914, 26891472, 7562969, 7762552, 7881431, 7920659, 7920660, 8556302, 9268105, 9300653, 9452110, 9521424, 9744477, 9832035		★☆☆☆☆ Found in Text Mining only
MASA SYNDROME (disorder)	MASA syndrome	GENOMICS_ENGLAND_DG	11438988, 3460961, 7562969		★☆☆☆☆ Found in Text Mining only
MASA SYNDROME (disorder)	MASA syndrome	BEFREE	15662685, 15904436, 17294222, 17328266, 19617634, 20447653, 20621658, 22222883, 24668863, 25934484, 25948108, 26891472, 31504653, 7762552, 7920660, 8320699, 8786080, 8809896, 8825051, 8826452, 9266556, 9440802, 9643285		★☆☆☆☆ Found in Text Mining only
MASA SYNDROME (disorder)	MASA syndrome	CLINGEN_DG	19565280, 19846429, 7562969		★☆☆☆☆ Found in Text Mining only
MASA SYNDROME (disorder)	MASA syndrome	CTD_human_DG	7920659, 7920660		★☆☆☆☆ Found in Text Mining only
MASA SYNDROME (disorder)	MASA syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	26497209	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	12490317, 16506207		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	16243793, 18982394, 19270649, 19865098, 20357814, 24974583, 25230579, 28609658, 29432466		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19270649	Inhibit	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19865098, 20357814, 35672380, 36142656, 37286800	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	33082316	Associate	★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	BEFREE	17882438		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	10797421, 16080119, 16987873, 17294222, 20237819, 30842511, 31756056, 7778187, 8782167, 8826452, 9744477		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	10982473, 24914495, 7920660, 9377804, 9643285		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	30171198		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	27419370	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	16816908		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular angina	Pubtator	38049860	Associate	★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	30372675		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	29670356		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	BEFREE	25934484		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	40537080	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis II	Mucopolysaccharidosis	BEFREE	2128908		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15151998, 15361835, 16424028, 17299405, 18676824, 19144458, 19639167, 20077528, 20543863, 21541352, 21685041, 22228447, 22307136, 22472175, 22888955, 23530769, 23806079, 24046108, 24422715, 24497324, 25230579, 25294816, 26743472, 27390347, 27695947, 27833079, 28134764, 28221216, 28424422, 28504692, 28625395, 29059097, 29152102, 29432466, 29510897, 29716739, 29980240, 30235708, 30257867, 30591489, 30685413, 30814238, 30851892		★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	BEFREE	18553546, 24668863, 8323561		★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus, Type I	Nephrogenic Diabetes Insipidus	BEFREE	18553546, 8323561		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	11772994, 22222883, 22619377, 25934484, 27571524, 8947027, 9377804		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	21688291, 27390347, 31823885		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	27419370, 32296437, 37943774	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	20237819, 20621658, 26891472		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	20937862		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	15255999	Inhibit	★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	25809424		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21985405, 22307136, 30685413, 31572680		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	25536034		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	25536034	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	20215505, 21541352, 28625395		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18386459		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	22228447, 26761817		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16229685, 19661372, 22228447, 24166603, 27174921, 27419370, 34711431, 36509990, 36561981, 37478615	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19435915, 25860483, 29525378, 30171263		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	21109948, 25149066, 30171263		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21071578, 21080252, 24746181, 25860483	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32291413	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	24797069	Stimulate	★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	21097529		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	27419370	Associate	★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	9832035	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	27028855, 38048087	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31221572		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson disease	Pubtator	39273702	Associate	★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	GENOMICS_ENGLAND_DG	30712878		★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pelizaeus-Merzbacher Disease	Pelizaeus-Merzbacher disease	BEFREE	8780101		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	31754264	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	20937862		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	31504653		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	29510897		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25294816		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24505114	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	28212403		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	20081107	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	37822112	Associate	★☆☆☆☆ Found in Text Mining only
RELA fusion-positive ependymoma	RELA Fusion-Positive Ependymoma	BEFREE	30929114		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	21097529		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21097529, 25149066, 28428626		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	21097529		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	30895312		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	31500597		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	31500597, 36293469	Associate	★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	29050935		★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	21097529		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11425011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	19165527		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual disability	Mental retardation	BEFREE	16816908, 17328266, 27001749		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	20697351		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	39201435	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	CLINVAR_DG	10469653, 10797421, 11438988, 11772994, 19846429, 7920659, 8069317		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic Paraplegia	Spastic Paraplegia	BEFREE	8786080		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)	Hereditary spastic paraplegia	BEFREE	8780101		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	32501971, 7762552, 9643285	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	22619377, 26008818, 27638887, 28491902		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	GENOMICS_ENGLAND_DG	7562969		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	BEFREE	21033655, 21985405		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28181176, 28939985, 30219694		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	29467336, 34599215, 36825596	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22711166, 23806079, 24046108, 24422715		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24422715, 26811494, 31754264, 35241494	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	23530769	Associate	★☆☆☆☆ Found in Text Mining only
Thumb in palm deformity	Adducted thumbs syndrome	BEFREE	16088863, 7762552, 8636066		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	22472175		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	22472175		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25510351		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25510351, 32019858	Associate	★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	32060377	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	27749842, 28780131		★☆☆☆☆ Found in Text Mining only
Uterine Carcinosarcoma	Endometrial Cancer	BEFREE	30140948		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	17869320	Inhibit	★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	15785748	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	35672380	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D-Resistant Rickets, X-Linked	Vitamin D-Dependent Rickets	BEFREE	18485929, 19641926, 21961551, 22344793, 22354677, 26227058, 30738385, 31572438, 31756056		★☆☆☆☆ Found in Text Mining only
X-linked complicated corpus callosum dysgenesis	Complicated Corpus Callosum Dysgenesis, X-Linked	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked complicated spastic paraplegia type 1	Spastic Paraplegia, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked hydrocephalus syndrome	Hydrocephalus Syndrome, X-Linked	UNIPROT_DG	10797421, 11857550, 12435569, 12514225, 19846429, 20621658, 22344793, 22973895, 24155914, 7562969, 7762552, 7881431, 7920659, 8401576, 8556302, 8929944, 9118141, 9195224, 9268105, 9521424, 9744477, 9832035		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked hydrocephalus syndrome	Hydrocephalus Syndrome, X-Linked	BEFREE	11438988, 11772994, 11787037, 11968085, 1303258, 15108295, 15148591, 15662685, 16088863, 1642232, 17318848, 17328266, 17882438, 18485929, 19565280, 19641926, 19685344, 20237819, 21961551, 22222883, 22344793, 22354677, 25039760, 27207492, 29225145, 30738385, 31756056, 7762552, 7920659, 8401593, 8474107, 8636066, 8786080, 8825051, 8826452, 8929944, 9118141, 9195224, 9268105, 9279760, 9440802, 9450886, 9521424, 9643285, 9832035		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked hydrocephalus syndrome	Hydrocephalus Syndrome, X-Linked	GENOMICS_ENGLAND_DG	11438988, 15368500, 3460961, 7562969, 9279760		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked hydrocephalus syndrome	Hydrocephalus Syndrome, X-Linked	CTD_human_DG	7920659, 7920660		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked hydrocephalus syndrome	Hydrocephalus Syndrome, X-Linked	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)