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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3984
Gene name	LIM domain kinase 1
Gene symbol	LIMK1
Synonyms (NCBI Gene)	LIMKLIMK-1
Chromosome	7
Chromosome location	7q11.23
Summary	There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020461	hsa-miR-106b-5p	Microarray	17242205
MIRT042722	hsa-miR-346	CLASH	23622248
MIRT052914	hsa-miR-20a-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	24858712
MIRT054222	hsa-miR-17-5p	ImmunoblotLuciferase reporter assayqRT-PCR	23029228
MIRT054223	hsa-miR-20b-5p	ImmunoblotLuciferase reporter assayqRT-PCR	23029228
MIRT054224	hsa-miR-106a-5p	ImmunoblotLuciferase reporter assayqRT-PCR	23029228
MIRT438605	hsa-miR-143-3p	Luciferase reporter assayWestern blot	25003638
MIRT438605	hsa-miR-143-3p	Luciferase reporter assayWestern blot	25003638
MIRT054224	hsa-miR-106a-5p	PAR-CLIP	27292025
MIRT020461	hsa-miR-106b-5p	PAR-CLIP	27292025
MIRT054222	hsa-miR-17-5p	PAR-CLIP	27292025
MIRT052914	hsa-miR-20a-5p	PAR-CLIP	27292025
MIRT054223	hsa-miR-20b-5p	PAR-CLIP	27292025
MIRT755422	hsa-miR-27a-3p	Western blottingqRT-PCR	37884644
MIRT1109645	hsa-miR-106a	CLIP-seq
MIRT1109646	hsa-miR-106b	CLIP-seq
MIRT1109647	hsa-miR-1193	CLIP-seq
MIRT1109648	hsa-miR-1207-3p	CLIP-seq
MIRT1109649	hsa-miR-1224-3p	CLIP-seq
MIRT1109650	hsa-miR-1229	CLIP-seq
MIRT1109651	hsa-miR-1260	CLIP-seq
MIRT1109652	hsa-miR-1260b	CLIP-seq
MIRT1109653	hsa-miR-1263	CLIP-seq
MIRT1109654	hsa-miR-128	CLIP-seq
MIRT1109655	hsa-miR-1280	CLIP-seq
MIRT1109656	hsa-miR-1285	CLIP-seq
MIRT1109657	hsa-miR-1293	CLIP-seq
MIRT1109658	hsa-miR-1301	CLIP-seq
MIRT1109659	hsa-miR-1343	CLIP-seq
MIRT1109660	hsa-miR-149	CLIP-seq
MIRT1109661	hsa-miR-17	CLIP-seq
MIRT1109662	hsa-miR-1827	CLIP-seq
MIRT1109663	hsa-miR-1909	CLIP-seq
MIRT1109664	hsa-miR-200b	CLIP-seq
MIRT1109665	hsa-miR-200c	CLIP-seq
MIRT1109666	hsa-miR-20a	CLIP-seq
MIRT1109667	hsa-miR-20b	CLIP-seq
MIRT1109668	hsa-miR-224	CLIP-seq
MIRT1109669	hsa-miR-27a	CLIP-seq
MIRT1109670	hsa-miR-27b	CLIP-seq
MIRT1109671	hsa-miR-3119	CLIP-seq
MIRT1109672	hsa-miR-3147	CLIP-seq
MIRT1109673	hsa-miR-3150b-3p	CLIP-seq
MIRT1109674	hsa-miR-3187-5p	CLIP-seq
MIRT1109675	hsa-miR-3189-3p	CLIP-seq
MIRT1109676	hsa-miR-326	CLIP-seq
MIRT1109677	hsa-miR-330-5p	CLIP-seq
MIRT1109678	hsa-miR-3609	CLIP-seq
MIRT1109679	hsa-miR-3650	CLIP-seq
MIRT1109680	hsa-miR-3653	CLIP-seq
MIRT1109681	hsa-miR-3658	CLIP-seq
MIRT1109682	hsa-miR-3690	CLIP-seq
MIRT1109683	hsa-miR-374c	CLIP-seq
MIRT1109684	hsa-miR-378g	CLIP-seq
MIRT1109685	hsa-miR-384	CLIP-seq
MIRT1109686	hsa-miR-3921	CLIP-seq
MIRT1109687	hsa-miR-3944-5p	CLIP-seq
MIRT1109688	hsa-miR-4254	CLIP-seq
MIRT1109689	hsa-miR-4273	CLIP-seq
MIRT1109690	hsa-miR-4281	CLIP-seq
MIRT1109691	hsa-miR-429	CLIP-seq
MIRT1109692	hsa-miR-4328	CLIP-seq
MIRT1109693	hsa-miR-4425	CLIP-seq
MIRT1109694	hsa-miR-4445	CLIP-seq
MIRT1109695	hsa-miR-4483	CLIP-seq
MIRT1109696	hsa-miR-4486	CLIP-seq
MIRT1109697	hsa-miR-4504	CLIP-seq
MIRT1109698	hsa-miR-450b-3p	CLIP-seq
MIRT1109699	hsa-miR-4520a-5p	CLIP-seq
MIRT1109700	hsa-miR-4520b-5p	CLIP-seq
MIRT1109701	hsa-miR-4640-5p	CLIP-seq
MIRT1109702	hsa-miR-4649-3p	CLIP-seq
MIRT1109703	hsa-miR-4653-5p	CLIP-seq
MIRT1109704	hsa-miR-4660	CLIP-seq
MIRT1109705	hsa-miR-4677-5p	CLIP-seq
MIRT1109706	hsa-miR-4685-5p	CLIP-seq
MIRT1109707	hsa-miR-4689	CLIP-seq
MIRT1109708	hsa-miR-4698	CLIP-seq
MIRT1109709	hsa-miR-4726-5p	CLIP-seq
MIRT1109710	hsa-miR-4784	CLIP-seq
MIRT1109711	hsa-miR-4796-3p	CLIP-seq
MIRT1109712	hsa-miR-4804-5p	CLIP-seq
MIRT1109713	hsa-miR-502-5p	CLIP-seq
MIRT1109714	hsa-miR-5047	CLIP-seq
MIRT1109715	hsa-miR-513a-5p	CLIP-seq
MIRT1109716	hsa-miR-519a	CLIP-seq
MIRT1109717	hsa-miR-519d	CLIP-seq
MIRT1109718	hsa-miR-520g	CLIP-seq
MIRT1109719	hsa-miR-539	CLIP-seq
MIRT1109720	hsa-miR-548ah	CLIP-seq
MIRT1109721	hsa-miR-612	CLIP-seq
MIRT1109722	hsa-miR-629	CLIP-seq
MIRT1109723	hsa-miR-655	CLIP-seq
MIRT1109724	hsa-miR-659	CLIP-seq
MIRT1109725	hsa-miR-661	CLIP-seq
MIRT1109726	hsa-miR-662	CLIP-seq
MIRT1109727	hsa-miR-760	CLIP-seq
MIRT1109728	hsa-miR-769-3p	CLIP-seq
MIRT1109729	hsa-miR-93	CLIP-seq
MIRT1109645	hsa-miR-106a	CLIP-seq
MIRT1109646	hsa-miR-106b	CLIP-seq
MIRT1109647	hsa-miR-1193	CLIP-seq
MIRT1109649	hsa-miR-1224-3p	CLIP-seq
MIRT1109651	hsa-miR-1260	CLIP-seq
MIRT1109652	hsa-miR-1260b	CLIP-seq
MIRT1109655	hsa-miR-1280	CLIP-seq
MIRT1109657	hsa-miR-1293	CLIP-seq
MIRT2030530	hsa-miR-1324	CLIP-seq
MIRT1109659	hsa-miR-1343	CLIP-seq
MIRT1109661	hsa-miR-17	CLIP-seq
MIRT1109663	hsa-miR-1909	CLIP-seq
MIRT2030531	hsa-miR-1913	CLIP-seq
MIRT1109666	hsa-miR-20a	CLIP-seq
MIRT1109667	hsa-miR-20b	CLIP-seq
MIRT1109668	hsa-miR-224	CLIP-seq
MIRT2030532	hsa-miR-3136-3p	CLIP-seq
MIRT1109672	hsa-miR-3147	CLIP-seq
MIRT1109673	hsa-miR-3150b-3p	CLIP-seq
MIRT1109675	hsa-miR-3189-3p	CLIP-seq
MIRT2030533	hsa-miR-324-3p	CLIP-seq
MIRT2030534	hsa-miR-3616-3p	CLIP-seq
MIRT2030535	hsa-miR-3619-3p	CLIP-seq
MIRT1109682	hsa-miR-3690	CLIP-seq
MIRT1109686	hsa-miR-3921	CLIP-seq
MIRT1109688	hsa-miR-4254	CLIP-seq
MIRT2030536	hsa-miR-4257	CLIP-seq
MIRT2030537	hsa-miR-4270	CLIP-seq
MIRT2030538	hsa-miR-4286	CLIP-seq
MIRT2030539	hsa-miR-4300	CLIP-seq
MIRT1109693	hsa-miR-4425	CLIP-seq
MIRT2030540	hsa-miR-4441	CLIP-seq
MIRT1109694	hsa-miR-4445	CLIP-seq
MIRT1109695	hsa-miR-4483	CLIP-seq
MIRT1109698	hsa-miR-450b-3p	CLIP-seq
MIRT2030541	hsa-miR-4633-3p	CLIP-seq
MIRT1109702	hsa-miR-4649-3p	CLIP-seq
MIRT1109703	hsa-miR-4653-5p	CLIP-seq
MIRT1109706	hsa-miR-4685-5p	CLIP-seq
MIRT1109707	hsa-miR-4689	CLIP-seq
MIRT2030542	hsa-miR-4721	CLIP-seq
MIRT2030543	hsa-miR-4757-5p	CLIP-seq
MIRT2030544	hsa-miR-4776-5p	CLIP-seq
MIRT1109710	hsa-miR-4784	CLIP-seq
MIRT1109712	hsa-miR-4804-5p	CLIP-seq
MIRT1109716	hsa-miR-519a	CLIP-seq
MIRT1109717	hsa-miR-519d	CLIP-seq
MIRT1109718	hsa-miR-520g	CLIP-seq
MIRT2030545	hsa-miR-552	CLIP-seq
MIRT2030546	hsa-miR-619	CLIP-seq
MIRT1109725	hsa-miR-661	CLIP-seq
MIRT1109727	hsa-miR-760	CLIP-seq
MIRT1109728	hsa-miR-769-3p	CLIP-seq
MIRT2030547	hsa-miR-920	CLIP-seq
MIRT1109729	hsa-miR-93	CLIP-seq
MIRT1109645	hsa-miR-106a	CLIP-seq
MIRT1109646	hsa-miR-106b	CLIP-seq
MIRT1109647	hsa-miR-1193	CLIP-seq
MIRT1109649	hsa-miR-1224-3p	CLIP-seq
MIRT1109651	hsa-miR-1260	CLIP-seq
MIRT1109652	hsa-miR-1260b	CLIP-seq
MIRT1109654	hsa-miR-128	CLIP-seq
MIRT1109655	hsa-miR-1280	CLIP-seq
MIRT1109657	hsa-miR-1293	CLIP-seq
MIRT1109659	hsa-miR-1343	CLIP-seq
MIRT1109661	hsa-miR-17	CLIP-seq
MIRT1109662	hsa-miR-1827	CLIP-seq
MIRT1109664	hsa-miR-200b	CLIP-seq
MIRT1109665	hsa-miR-200c	CLIP-seq
MIRT1109666	hsa-miR-20a	CLIP-seq
MIRT1109667	hsa-miR-20b	CLIP-seq
MIRT1109668	hsa-miR-224	CLIP-seq
MIRT1109669	hsa-miR-27a	CLIP-seq
MIRT1109670	hsa-miR-27b	CLIP-seq
MIRT1109672	hsa-miR-3147	CLIP-seq
MIRT1109675	hsa-miR-3189-3p	CLIP-seq
MIRT1109682	hsa-miR-3690	CLIP-seq
MIRT1109683	hsa-miR-374c	CLIP-seq
MIRT1109685	hsa-miR-384	CLIP-seq
MIRT1109688	hsa-miR-4254	CLIP-seq
MIRT2030536	hsa-miR-4257	CLIP-seq
MIRT1109690	hsa-miR-4281	CLIP-seq
MIRT1109691	hsa-miR-429	CLIP-seq
MIRT2261286	hsa-miR-4290	CLIP-seq
MIRT1109692	hsa-miR-4328	CLIP-seq
MIRT1109693	hsa-miR-4425	CLIP-seq
MIRT1109694	hsa-miR-4445	CLIP-seq
MIRT2261287	hsa-miR-4480	CLIP-seq
MIRT1109695	hsa-miR-4483	CLIP-seq
MIRT1109698	hsa-miR-450b-3p	CLIP-seq
MIRT1109702	hsa-miR-4649-3p	CLIP-seq
MIRT1109712	hsa-miR-4804-5p	CLIP-seq
MIRT1109713	hsa-miR-502-5p	CLIP-seq
MIRT1109715	hsa-miR-513a-5p	CLIP-seq
MIRT1109716	hsa-miR-519a	CLIP-seq
MIRT1109717	hsa-miR-519d	CLIP-seq
MIRT1109718	hsa-miR-520g	CLIP-seq
MIRT1109719	hsa-miR-539	CLIP-seq
MIRT1109722	hsa-miR-629	CLIP-seq
MIRT1109723	hsa-miR-655	CLIP-seq
MIRT1109724	hsa-miR-659	CLIP-seq
MIRT1109726	hsa-miR-662	CLIP-seq
MIRT1109728	hsa-miR-769-3p	CLIP-seq
MIRT1109729	hsa-miR-93	CLIP-seq
MIRT1109648	hsa-miR-1207-3p	CLIP-seq
MIRT1109649	hsa-miR-1224-3p	CLIP-seq
MIRT1109651	hsa-miR-1260	CLIP-seq
MIRT1109652	hsa-miR-1260b	CLIP-seq
MIRT1109655	hsa-miR-1280	CLIP-seq
MIRT2561268	hsa-miR-1291	CLIP-seq
MIRT1109658	hsa-miR-1301	CLIP-seq
MIRT1109662	hsa-miR-1827	CLIP-seq
MIRT2561269	hsa-miR-214	CLIP-seq
MIRT2561270	hsa-miR-3120-3p	CLIP-seq
MIRT2561271	hsa-miR-3173-5p	CLIP-seq
MIRT2561272	hsa-miR-328	CLIP-seq
MIRT2561273	hsa-miR-3619-5p	CLIP-seq
MIRT1109679	hsa-miR-3650	CLIP-seq
MIRT2561274	hsa-miR-377	CLIP-seq
MIRT1109685	hsa-miR-384	CLIP-seq
MIRT1109687	hsa-miR-3944-5p	CLIP-seq
MIRT2030536	hsa-miR-4257	CLIP-seq
MIRT2561275	hsa-miR-4258	CLIP-seq
MIRT2561276	hsa-miR-4267	CLIP-seq
MIRT2261286	hsa-miR-4290	CLIP-seq
MIRT2561277	hsa-miR-4428	CLIP-seq
MIRT2261287	hsa-miR-4480	CLIP-seq
MIRT2561278	hsa-miR-451b	CLIP-seq
MIRT1109702	hsa-miR-4649-3p	CLIP-seq
MIRT2561279	hsa-miR-4649-5p	CLIP-seq
MIRT1109704	hsa-miR-4660	CLIP-seq
MIRT1109708	hsa-miR-4698	CLIP-seq
MIRT2561280	hsa-miR-4707-3p	CLIP-seq
MIRT2561281	hsa-miR-4708-3p	CLIP-seq
MIRT2561282	hsa-miR-4722-3p	CLIP-seq
MIRT1109714	hsa-miR-5047	CLIP-seq
MIRT2561283	hsa-miR-532-3p	CLIP-seq
MIRT1109727	hsa-miR-760	CLIP-seq
MIRT2561284	hsa-miR-761	CLIP-seq
MIRT2561285	hsa-miR-766	CLIP-seq
MIRT2561271	hsa-miR-3173-5p	CLIP-seq
MIRT2561274	hsa-miR-377	CLIP-seq
MIRT2561276	hsa-miR-4267	CLIP-seq
MIRT2261286	hsa-miR-4290	CLIP-seq
MIRT2561277	hsa-miR-4428	CLIP-seq
MIRT2561278	hsa-miR-451b	CLIP-seq
MIRT2561281	hsa-miR-4708-3p	CLIP-seq
MIRT2561285	hsa-miR-766	CLIP-seq

Show/Hide all (55)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	NAS	8537403
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	22328514
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	8537403
GO:0005515	Function	Protein binding	IPI	8940095, 10559936, 10652353, 15220930, 15660133, 16837009, 17500066, 17853892, 18028908, 19424295, 20133759, 21219645, 32296183, 35914814, 36931259
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	17512523
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005925	Component	Focal adhesion	IEA
GO:0006468	Process	Protein phosphorylation	IDA	22328514
GO:0006468	Process	Protein phosphorylation	IMP	23633677
GO:0006468	Process	Protein phosphorylation	TAS	8537403
GO:0007165	Process	Signal transduction	TAS	10428028, 10436159
GO:0007266	Process	Rho protein signal transduction	TAS	10436159
GO:0007399	Process	Nervous system development	TAS	8689688
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0016740	Function	Transferase activity	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0030027	Component	Lamellipodium	ISS
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0030036	Process	Actin cytoskeleton organization	TAS	10428028
GO:0030054	Component	Cell junction	IEA
GO:0031072	Function	Heat shock protein binding	IDA	17512523
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	17512523
GO:0032233	Process	Positive regulation of actin filament bundle assembly	IDA	17512523
GO:0038096	Process	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0043005	Component	Neuron projection	IEA
GO:0043005	Component	Neuron projection	ISS
GO:0043149	Process	Stress fiber assembly	IEA
GO:0045773	Process	Positive regulation of axon extension	IEA
GO:0045773	Process	Positive regulation of axon extension	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048675	Process	Axon extension	IEA
GO:0051496	Process	Positive regulation of stress fiber assembly	IBA
GO:0051496	Process	Positive regulation of stress fiber assembly	IEA
GO:0098794	Component	Postsynapse	IDA	25884247
GO:0098794	Component	Postsynapse	IMP	25884247
GO:0098978	Component	Glutamatergic synapse	IDA	25884247
GO:0098978	Component	Glutamatergic synapse	IMP	25884247
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1990948	Function	Ubiquitin ligase inhibitor activity	IDA	17512523

MIM	HGNC	e!Ensembl
601329	6613	ENSG00000106683

P53667

Protein name

LIM domain kinase 1 (LIMK-1) (EC 2.7.11.1)

Protein function

Serine/threonine-protein kinase that plays an essential role in the regulation of actin filament dynamics. Acts downstream of several Rho family GTPase signal transduction pathways (PubMed:10436159, PubMed:11832213, PubMed:12807904, PubMed:15660

PDB

3S95 , 5HVJ , 5HVK , 5L6W , 5NXC , 6WLY , 7ATS , 7ATU , 7B8W , 8AAU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00412	LIM	25 → 80	LIM domain	Domain
PF00412	LIM	84 → 142	LIM domain	Domain
PF00595	PDZ	165 → 255	PDZ domain	Domain
PF07714	PK_Tyr_Ser-Thr	339 → 604	Protein tyrosine and serine/threonine kinase	Domain

Tissue specificity

TISSUE SPECIFICITY: Highest expression in both adult and fetal nervous system. Detected ubiquitously throughout the different regions of adult brain, with highest levels in the cerebral cortex. Expressed to a lesser extent in heart and skeletal muscle.

Sequence

MRLTLLCCTWREERMGEEGSELPVCASCGQRIYDGQYLQALNADWHADCFRCCDCSASLS
HQYYEKDGQLFCKKDYWARYGESCHGCSEQITKGLVMVAGELKYHPECFICLTCGTFIGD
GDTYTLVEHSKLYCGHCYYQTVVTPVIEQILPDSPGSHLPHTVTLVSIPASSHGKRGLSV
SIDPPHGPPGCGTEHSHTVRVQGVDPGCMSPDVKNSIHVGDRILEINGTPIRNVPLDEID
LLIQETSRLLQLTLEHDPHDTLGHGLGPETSPLSSPAYTPSGEAGSSARQKPVLRSCSID
RSPGAGSLGSPASQRKDLGRSESLRVVCRPHRIFRPSDLIHGEVLGKGCFGQAIKVTHRE
TGEVMVMKELIRFDEETQRTFLKEVKVMRCLEHPNVLKFIGVLYKDKRLNFITEYIKGGT
LRGIIKSMDSQYPWSQRVSFAKDIASGMAYLHSMNIIHRDLNSHNCLVRENKNVVVADFG
LARLMVDEKTQPEGLRSLKKPDRKKRYTVVGNPYWMAPEMINGRSYDEKVDVFSFGIVLC
EIIGRVNADPDYLPRTMDFGLNVRGFLDRYCPPNCPPSFFPITVRCCDLDPEKRPSFVKL
EHWLETLRMHLAGHLPLGPQLEQLDRGFWETYRRGESGLPAHPEVPD

Sequence length

647

Interactions

View interactions

	KEGG		Reactome
	Axon guidance Fc gamma R-mediated phagocytosis Regulation of actin cytoskeleton Yersinia infection Human immunodeficiency virus 1 infection		Regulation of actin dynamics for phagocytic cup formation Sema3A PAK dependent Axon repulsion RHO GTPases activate PAKs

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Undetermined early-onset epileptic encephalopathy	Pathogenic	rs2487140003	RCV004577926	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMK1-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILLIAMS SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (187)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Accessory kidney	Accessory Kidney	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acoustic Neuroma	Acoustic Neuroma	BEFREE	23934191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	31239325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	24858712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneurysm of aortic arch	Aneurysm Of Aortic Arch	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	31560829	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	28791377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30837367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	27273096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Diverticulum	Bladder Diverticulum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30006972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12777619, 21682918, 28581515, 29188531, 30217259, 30320377, 31277940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17559677, 18000399, 19153192, 21219645, 27116935, 31078043, 34079084, 34486491	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	19153192	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26271467	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30006972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24063279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	25019203	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	22906279, 25190487, 26522724		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	18566305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	17559677, 24642638	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	31541994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	16216290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	8689688, 8812460	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28358024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	38238555	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28664914, 29970879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28358024, 37193711, 37828981	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of neck	Congenital Anomaly Of Neck	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31541994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cornea plana	Cornea Plana	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Defect of vertebral segmentation	Abnormal spinal segmentation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	31239325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29329879, 31176122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	16467374		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated intravascular coagulation	Pubtator	24039253	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	30808273		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	26522724		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	27678468		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	22499122	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	27273096, 28465421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	29908439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19666124, 25237832, 29724193, 31641031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23338717, 25237832, 29724193, 33062725, 33649781	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	19666124, 25237832, 29724193, 31641031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	30550596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	30550596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	35322726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	25941073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension, Renovascular	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	12963706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	12963706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	16216290, 31490755, 8812460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	BEFREE	18978953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	16611674, 17287949, 20613766, 21228795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28116173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	26540348	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	24642638	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32591645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32168432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12777619, 21682918, 28581515, 29188531, 30217259, 30320377, 31277940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24063279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	22906279, 25190487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20047470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12777619, 25344584, 25714010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25661344, 26871290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	24858712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30006972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24390089, 25190487, 28373445		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	22331697		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28358024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16381000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	32196612	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29329879, 31176122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	22689056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	30873211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple renal cysts	Multiple renal cysts	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	21769918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17559677, 20047470, 21682918, 21769918, 22906279, 24858712, 25003638, 25661344, 26871290, 29387219, 31641031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	26540348	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	25645926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	23934191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24063279, 24390089, 25003638, 25975262, 27665963		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus-induced head nodding	Nystagmus-induced head nodding	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	22715593, 24247826, 29387219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	28806779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	22906279		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	22906279, 25190487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22906279	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Overriding aorta	Overriding aorta	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20047470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelvic kidney	Pelvic kidney	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral pulmonary artery stenosis	Peripheral pulmonary artery stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posterior embryotoxon	Posterior embryotoxon	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	31239325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12777619, 25344584, 25714010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12821664		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	12821664, 15908432, 17559677, 21219645, 25344584, 25359780, 31389670, 32168432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	17559677, 21219645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Prolapse	Rectal Prolapse	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	26540348	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30551528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30873211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	25019203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	28942448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25661344, 26871290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36316865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	18566305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Supravalvular aortic stenosis	Supravalvar aortic stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	24858712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	24858712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28559978, 29156719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	20622363, 33760158	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	8689688	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	10953236, 11003705, 14745832, 15951840, 16216290, 17827280, 19012340, 19662944, 22411788, 24246242, 25645926, 31687737, 9637430, 9915950		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Williams Syndrome	Williams syndrome	Pubtator	17827280, 22411788, 25105779, 31204697, 31687737, 37633900, 8689688, 8812460	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Williams syndrome	Williams Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Williams Syndrome	Williams Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

LIMK1 (LIM domain kinase 1)