NR4A2 (nuclear receptor subfamily 4 group A member 2)

Gene

• Entrez ID: 4929
• Gene name: Nuclear receptor subfamily 4 group A member 2
• Gene symbol: NR4A2
• Synonyms (NCBI Gene): HZF-3, IDLDP, NOT, NURR1, RNR1, TINUR
• Chromosome: 2
• Chromosome location: 2q24.1
• Summary: This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parki

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1553456695	->C	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1573811478	->GTCG	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003538	hsa-miR-372-3p	Luciferase reporter assay, Microarray	19885849
MIRT003538	hsa-miR-372-3p	Luciferase reporter assay, Microarray	19885849
MIRT003537	hsa-miR-302d-3p	Luciferase reporter assay, Microarray	19885849
MIRT003537	hsa-miR-302d-3p	Luciferase reporter assay, Microarray	19885849
MIRT003537	hsa-miR-302d-3p	Luciferase reporter assay, Microarray	19885849
MIRT003537	hsa-miR-302d-3p	Luciferase reporter assay, Microarray	19885849
MIRT003536	hsa-miR-19a-3p	Luciferase reporter assay, Microarray	19885849
MIRT003535	hsa-miR-217	Luciferase reporter assay, Microarray	19885849
MIRT018465	hsa-miR-335-5p	Microarray	18185580
MIRT045837	hsa-miR-133a-3p	CLASH	23622248
MIRT710550	hsa-miR-548c-3p	HITS-CLIP	19536157
MIRT710549	hsa-miR-34a-3p	HITS-CLIP	19536157
MIRT710548	hsa-miR-3617-3p	HITS-CLIP	19536157
MIRT710547	hsa-miR-3675-3p	HITS-CLIP	19536157
MIRT710546	hsa-miR-4310	HITS-CLIP	19536157
MIRT710545	hsa-miR-7157-5p	HITS-CLIP	19536157
MIRT710544	hsa-miR-520f-5p	HITS-CLIP	19536157
MIRT731262	hsa-miR-129-5p	Luciferase reporter assay	26824182
MIRT731262	hsa-miR-129-5p	Luciferase reporter assay	26824182
MIRT731262	hsa-miR-129-5p	Luciferase reporter assay	26824182
MIRT731262	hsa-miR-129-5p	Luciferase reporter assay	26824182
MIRT710550	hsa-miR-548c-3p	HITS-CLIP	19536157
MIRT710549	hsa-miR-34a-3p	HITS-CLIP	19536157
MIRT710548	hsa-miR-3617-3p	HITS-CLIP	19536157
MIRT710547	hsa-miR-3675-3p	HITS-CLIP	19536157
MIRT710546	hsa-miR-4310	HITS-CLIP	19536157
MIRT710545	hsa-miR-7157-5p	HITS-CLIP	19536157
MIRT710544	hsa-miR-520f-5p	HITS-CLIP	19536157
MIRT1192837	hsa-miR-1	CLIP-seq
MIRT1192838	hsa-miR-1203	CLIP-seq
MIRT1192839	hsa-miR-1205	CLIP-seq
MIRT1192840	hsa-miR-1206	CLIP-seq
MIRT1192841	hsa-miR-1224-3p	CLIP-seq
MIRT1192842	hsa-miR-1227	CLIP-seq
MIRT1192843	hsa-miR-1258	CLIP-seq
MIRT1192844	hsa-miR-1290	CLIP-seq
MIRT1192845	hsa-miR-1299	CLIP-seq
MIRT1192846	hsa-miR-132	CLIP-seq
MIRT1192847	hsa-miR-184	CLIP-seq
MIRT1192848	hsa-miR-186	CLIP-seq
MIRT1192849	hsa-miR-200b	CLIP-seq
MIRT1192850	hsa-miR-200c	CLIP-seq
MIRT1192851	hsa-miR-204	CLIP-seq
MIRT1192852	hsa-miR-2054	CLIP-seq
MIRT1192853	hsa-miR-211	CLIP-seq
MIRT1192854	hsa-miR-212	CLIP-seq
MIRT1192855	hsa-miR-2681	CLIP-seq
MIRT1192856	hsa-miR-2682	CLIP-seq
MIRT1192857	hsa-miR-28-3p	CLIP-seq
MIRT1192858	hsa-miR-299-5p	CLIP-seq
MIRT1192859	hsa-miR-3065-5p	CLIP-seq
MIRT1192860	hsa-miR-30a	CLIP-seq
MIRT1192861	hsa-miR-30b	CLIP-seq
MIRT1192862	hsa-miR-30c	CLIP-seq
MIRT1192863	hsa-miR-30d	CLIP-seq
MIRT1192864	hsa-miR-30e	CLIP-seq
MIRT1192865	hsa-miR-3180-5p	CLIP-seq
MIRT1192866	hsa-miR-320a	CLIP-seq
MIRT1192867	hsa-miR-320b	CLIP-seq
MIRT1192868	hsa-miR-320c	CLIP-seq
MIRT1192869	hsa-miR-320d	CLIP-seq
MIRT1192870	hsa-miR-34a	CLIP-seq
MIRT1192871	hsa-miR-34c-5p	CLIP-seq
MIRT1192872	hsa-miR-3607-5p	CLIP-seq
MIRT1192873	hsa-miR-3613-5p	CLIP-seq
MIRT1192874	hsa-miR-361-5p	CLIP-seq
MIRT1192875	hsa-miR-365	CLIP-seq
MIRT1192876	hsa-miR-3657	CLIP-seq
MIRT1192877	hsa-miR-3665	CLIP-seq
MIRT1192878	hsa-miR-3714	CLIP-seq
MIRT1192879	hsa-miR-371-5p	CLIP-seq
MIRT1192880	hsa-miR-371b-5p	CLIP-seq
MIRT1192881	hsa-miR-3924	CLIP-seq
MIRT1192882	hsa-miR-409-3p	CLIP-seq
MIRT1192883	hsa-miR-410	CLIP-seq
MIRT1192884	hsa-miR-4261	CLIP-seq
MIRT1192885	hsa-miR-4270	CLIP-seq
MIRT1192886	hsa-miR-4282	CLIP-seq
MIRT1192887	hsa-miR-429	CLIP-seq
MIRT1192888	hsa-miR-4328	CLIP-seq
MIRT1192889	hsa-miR-4429	CLIP-seq
MIRT1192890	hsa-miR-4441	CLIP-seq
MIRT1192891	hsa-miR-4496	CLIP-seq
MIRT1192892	hsa-miR-449a	CLIP-seq
MIRT1192893	hsa-miR-449b	CLIP-seq
MIRT1192894	hsa-miR-449c	CLIP-seq
MIRT1192895	hsa-miR-4502	CLIP-seq
MIRT1192896	hsa-miR-455-5p	CLIP-seq
MIRT1192897	hsa-miR-4646-3p	CLIP-seq
MIRT1192898	hsa-miR-4653-3p	CLIP-seq
MIRT1192899	hsa-miR-4666-5p	CLIP-seq
MIRT1192900	hsa-miR-4669	CLIP-seq
MIRT1192901	hsa-miR-4685-5p	CLIP-seq
MIRT1192902	hsa-miR-4694-5p	CLIP-seq
MIRT1192903	hsa-miR-4698	CLIP-seq
MIRT1192904	hsa-miR-4709-5p	CLIP-seq
MIRT1192905	hsa-miR-4727-5p	CLIP-seq
MIRT1192906	hsa-miR-4729	CLIP-seq
MIRT1192907	hsa-miR-4762-3p	CLIP-seq
MIRT1192908	hsa-miR-4763-5p	CLIP-seq
MIRT1192909	hsa-miR-4766-5p	CLIP-seq
MIRT1192910	hsa-miR-4781-3p	CLIP-seq
MIRT1192911	hsa-miR-4799-5p	CLIP-seq
MIRT1192912	hsa-miR-4802-3p	CLIP-seq
MIRT1192913	hsa-miR-4804-5p	CLIP-seq
MIRT1192914	hsa-miR-485-3p	CLIP-seq
MIRT1192915	hsa-miR-511	CLIP-seq
MIRT1192916	hsa-miR-513c	CLIP-seq
MIRT1192917	hsa-miR-514b-5p	CLIP-seq
MIRT1192918	hsa-miR-520d-5p	CLIP-seq
MIRT1192919	hsa-miR-524-5p	CLIP-seq
MIRT1192920	hsa-miR-548an	CLIP-seq
MIRT1192921	hsa-miR-579	CLIP-seq
MIRT1192922	hsa-miR-605	CLIP-seq
MIRT1192923	hsa-miR-613	CLIP-seq
MIRT1192924	hsa-miR-656	CLIP-seq
MIRT1192925	hsa-miR-657	CLIP-seq
MIRT1192926	hsa-miR-665	CLIP-seq
MIRT1192927	hsa-miR-875-3p	CLIP-seq
MIRT1192928	hsa-miR-938	CLIP-seq
MIRT1192929	hsa-miR-95	CLIP-seq
MIRT1192837	hsa-miR-1	CLIP-seq
MIRT2055992	hsa-miR-1178	CLIP-seq
MIRT1192843	hsa-miR-1258	CLIP-seq
MIRT2055993	hsa-miR-1264	CLIP-seq
MIRT1192844	hsa-miR-1290	CLIP-seq
MIRT1192845	hsa-miR-1299	CLIP-seq
MIRT1192846	hsa-miR-132	CLIP-seq
MIRT2055994	hsa-miR-134	CLIP-seq
MIRT1192847	hsa-miR-184	CLIP-seq
MIRT1192849	hsa-miR-200b	CLIP-seq
MIRT1192850	hsa-miR-200c	CLIP-seq
MIRT1192851	hsa-miR-204	CLIP-seq
MIRT2055995	hsa-miR-2053	CLIP-seq
MIRT1192852	hsa-miR-2054	CLIP-seq
MIRT1192853	hsa-miR-211	CLIP-seq
MIRT1192854	hsa-miR-212	CLIP-seq
MIRT2055996	hsa-miR-2909	CLIP-seq
MIRT2055997	hsa-miR-3118	CLIP-seq
MIRT2055998	hsa-miR-3127-3p	CLIP-seq
MIRT2055999	hsa-miR-3152-3p	CLIP-seq
MIRT2056000	hsa-miR-3162-5p	CLIP-seq
MIRT2056001	hsa-miR-3164	CLIP-seq
MIRT1192866	hsa-miR-320a	CLIP-seq
MIRT1192867	hsa-miR-320b	CLIP-seq
MIRT1192868	hsa-miR-320c	CLIP-seq
MIRT1192869	hsa-miR-320d	CLIP-seq
MIRT2056002	hsa-miR-342-3p	CLIP-seq
MIRT1192872	hsa-miR-3607-5p	CLIP-seq
MIRT1192874	hsa-miR-361-5p	CLIP-seq
MIRT2056003	hsa-miR-376c	CLIP-seq
MIRT1192881	hsa-miR-3924	CLIP-seq
MIRT1192882	hsa-miR-409-3p	CLIP-seq
MIRT1192884	hsa-miR-4261	CLIP-seq
MIRT2056004	hsa-miR-4265	CLIP-seq
MIRT1192887	hsa-miR-429	CLIP-seq
MIRT2056005	hsa-miR-4296	CLIP-seq
MIRT2056006	hsa-miR-4313	CLIP-seq
MIRT2056007	hsa-miR-4322	CLIP-seq
MIRT2056008	hsa-miR-4426	CLIP-seq
MIRT1192889	hsa-miR-4429	CLIP-seq
MIRT1192891	hsa-miR-4496	CLIP-seq
MIRT2056009	hsa-miR-4501	CLIP-seq
MIRT1192895	hsa-miR-4502	CLIP-seq
MIRT2056010	hsa-miR-4641	CLIP-seq
MIRT2056011	hsa-miR-4645-3p	CLIP-seq
MIRT2056012	hsa-miR-4647	CLIP-seq
MIRT2056013	hsa-miR-4662b	CLIP-seq
MIRT2056014	hsa-miR-4668-3p	CLIP-seq
MIRT1192902	hsa-miR-4694-5p	CLIP-seq
MIRT2056015	hsa-miR-4711-3p	CLIP-seq
MIRT1192907	hsa-miR-4762-3p	CLIP-seq
MIRT1192910	hsa-miR-4781-3p	CLIP-seq
MIRT1192913	hsa-miR-4804-5p	CLIP-seq
MIRT1192918	hsa-miR-520d-5p	CLIP-seq
MIRT1192919	hsa-miR-524-5p	CLIP-seq
MIRT2056016	hsa-miR-562	CLIP-seq
MIRT2056017	hsa-miR-576-3p	CLIP-seq
MIRT2056018	hsa-miR-587	CLIP-seq
MIRT2056019	hsa-miR-593	CLIP-seq
MIRT1192923	hsa-miR-613	CLIP-seq
MIRT1192924	hsa-miR-656	CLIP-seq
MIRT1192925	hsa-miR-657	CLIP-seq
MIRT2056020	hsa-miR-767-3p	CLIP-seq
MIRT1192927	hsa-miR-875-3p	CLIP-seq
MIRT2056021	hsa-miR-885-5p	CLIP-seq
MIRT1192837	hsa-miR-1	CLIP-seq
MIRT1192845	hsa-miR-1299	CLIP-seq
MIRT1192846	hsa-miR-132	CLIP-seq
MIRT1192847	hsa-miR-184	CLIP-seq
MIRT1192854	hsa-miR-212	CLIP-seq
MIRT1192866	hsa-miR-320a	CLIP-seq
MIRT1192867	hsa-miR-320b	CLIP-seq
MIRT1192868	hsa-miR-320c	CLIP-seq
MIRT1192869	hsa-miR-320d	CLIP-seq
MIRT1192882	hsa-miR-409-3p	CLIP-seq
MIRT1192884	hsa-miR-4261	CLIP-seq
MIRT1192889	hsa-miR-4429	CLIP-seq
MIRT1192902	hsa-miR-4694-5p	CLIP-seq
MIRT1192910	hsa-miR-4781-3p	CLIP-seq
MIRT1192913	hsa-miR-4804-5p	CLIP-seq
MIRT1192918	hsa-miR-520d-5p	CLIP-seq
MIRT1192919	hsa-miR-524-5p	CLIP-seq
MIRT1192923	hsa-miR-613	CLIP-seq
MIRT1192927	hsa-miR-875-3p	CLIP-seq
MIRT1192872	hsa-miR-3607-5p	CLIP-seq
MIRT1192881	hsa-miR-3924	CLIP-seq
MIRT1192898	hsa-miR-4653-3p	CLIP-seq
MIRT1192924	hsa-miR-656	CLIP-seq
MIRT2582516	hsa-miR-147	CLIP-seq
MIRT2582517	hsa-miR-3144-3p	CLIP-seq
MIRT2582518	hsa-miR-3160-5p	CLIP-seq
MIRT2582519	hsa-miR-323-3p	CLIP-seq
MIRT1192875	hsa-miR-365	CLIP-seq
MIRT2582520	hsa-miR-369-3p	CLIP-seq
MIRT2582521	hsa-miR-374a	CLIP-seq
MIRT2582522	hsa-miR-374b	CLIP-seq
MIRT1192883	hsa-miR-410	CLIP-seq
MIRT2582523	hsa-miR-4724-5p	CLIP-seq
MIRT1192905	hsa-miR-4727-5p	CLIP-seq
MIRT2582524	hsa-miR-4742-3p	CLIP-seq
MIRT1192908	hsa-miR-4763-5p	CLIP-seq
MIRT2582525	hsa-miR-561	CLIP-seq
MIRT2056016	hsa-miR-562	CLIP-seq
MIRT2582526	hsa-miR-580	CLIP-seq
MIRT1192924	hsa-miR-656	CLIP-seq
MIRT1192928	hsa-miR-938	CLIP-seq
MIRT2582519	hsa-miR-323-3p	CLIP-seq
MIRT2582520	hsa-miR-369-3p	CLIP-seq
MIRT2582521	hsa-miR-374a	CLIP-seq
MIRT2582522	hsa-miR-374b	CLIP-seq
MIRT1192883	hsa-miR-410	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	18463503
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	TAS	22988876
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001666	Process	Response to hypoxia	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0001764	Process	Neuron migration	TAS	16243425
GO:0001975	Process	Response to amphetamine	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	16243425
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0004879	Function	Nuclear receptor activity	IEA
GO:0004879	Function	Nuclear receptor activity	TAS	16243425
GO:0005515	Function	Protein binding	IPI	20195357, 31515488, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	17184956, 24399192
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	16243425
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0006351	Process	DNA-templated transcription	IDA	17184956
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0008013	Function	Beta-catenin binding	TAS	22988876, 24115276
GO:0008270	Function	Zinc ion binding	IEA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0016607	Component	Nuclear speck	IEA
GO:0021952	Process	Central nervous system projection neuron axonogenesis	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IBA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0021986	Process	Habenula development	IEA
GO:0030522	Process	Intracellular receptor signaling pathway	IEA
GO:0032991	Component	Protein-containing complex	TAS	16243425
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0035259	Function	Nuclear glucocorticoid receptor binding	IBA
GO:0035259	Function	Nuclear glucocorticoid receptor binding	IEA
GO:0042053	Process	Regulation of dopamine metabolic process	IEA
GO:0042416	Process	Dopamine biosynthetic process	IEA
GO:0042417	Process	Dopamine metabolic process	IEA
GO:0042551	Process	Neuron maturation	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043576	Process	Regulation of respiratory gaseous exchange	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	TAS	24115276
GO:0046872	Function	Metal ion binding	IEA
GO:0046965	Function	Nuclear retinoid X receptor binding	TAS	16243425
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051866	Process	General adaptation syndrome	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	TAS	24115276
GO:0071376	Process	Cellular response to corticotropin-releasing hormone stimulus	IBA
GO:0071376	Process	Cellular response to corticotropin-releasing hormone stimulus	IEA
GO:0071376	Process	Cellular response to corticotropin-releasing hormone stimulus	ISS
GO:0071542	Process	Dopaminergic neuron differentiation	IBA
GO:0071542	Process	Dopaminergic neuron differentiation	IEA
GO:0071542	Process	Dopaminergic neuron differentiation	ISS
GO:1904948	Process	Midbrain dopaminergic neuron differentiation	TAS	16243425, 22988876, 24115276, 24431302
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2001234	Process	Negative regulation of apoptotic signaling pathway	IMP	19429166

Other IDs

• MIM: 601828
• HGNC: 7981
• e!Ensembl: ENSG00000153234

Protein

• UniProt ID: P43354
• Protein name: Nuclear receptor subfamily 4 group A member 2 (Immediate-early response protein NOT) (Orphan nuclear receptor NURR1) (Transcriptionally-inducible nuclear receptor)
• Protein function: Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development (PubMed:15716272, PubMed:17184956). It is crucial for expression of a set of genes such as S
• PDB: 1OVL, 5Y41, 5YD6, 6DDA, 6L6L, 6L6Q, 7WNH, 8CYO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00105	zf-C4	261 → 330	Zinc finger, C4 type (two domains)	Domain
  PF00104	Hormone_recep	392 → 579	Ligand-binding domain of nuclear hormone receptor	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in a number of cell lines of T-cell, B-cell and fibroblast origin. Strong expression in brain tissue.
• Sequence:

  MPCVQAQYGSSPQGASPASQSYSYHSSGEYSSDFLTPEFVKFSMDLTNTEITATTSLPSF
  STFMDNYSTGYDVKPPCLYQMPLSGQQSSIKVEDIQMHNYQQHSHLPPQSEEMMPHSGSV
  YYKPSSPPTPTTPGFQVQHSPMWDDPGSLHNFHQNYVATTHMIEQRKTPVSRLSLFSFKQ
  SPPGTPVSSCQMRFDGPLHVPMNPEPAGSHHVVDGQTFAVPNPIRKPASMGFPGLQIGHA
  SQLLDTQVPSPPSRGSPSNEGLCAVCGDNAACQHYGVRTCEGCKGFFKRTVQKNAKYVCL
  ANKNCPVDKRRRNRCQYCRFQKCLAVGMVKEVVRTDSLKGRRGRLPSKPKSPQEPSPPSP
  PVSLISALVRAHVDSNPAMTSLDYSRFQANPDYQMSGDDTQHIQQFYDLLTGSMEIIRGW
  AEKIPGFADLPKADQDLLFESAFLELFVLRLAYRSNPVEGKLIFCNGVVLHRLQCVRGFG
  EWIDSIVEFSSNLQNMNIDISAFSCIAALAMVTERHGLKEPKRVEELQNKIVNCLKDHVT
  FNNGGLNRPNYLSKLLGKLPELRTLCTQGLQRIFYLKLEDLVPPPAIIDKLFLDTLPF

• Sequence length: 598

Pathways

KEGG:

Aldosterone synthesis and secretion
Parathyroid hormone synthesis, secretion and action

Reactome:

Nuclear Receptor transcription pathway

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
Autism spectrum disorder	Likely pathogenic	rs1686821540	RCV001291378	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complex neurodevelopmental disorder	Likely pathogenic	rs2468285722	RCV002795916	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental disorder	Likely pathogenic	rs2468272048	RCV003127337	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Likely pathogenic	rs1553456695	RCV000656523	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	Likely pathogenic; Pathogenic	rs2105601199, rs2105608859, rs2105605124, rs2105604954, rs2468286796, rs774629025, rs2468285695, rs2468287811, rs2468285722, rs769178148, rs2468279150, rs1686756273, rs2468282575	RCV005252120 RCV002260903 RCV002260904 RCV002260905 RCV002291393 RCV003151948 RCV003223543 RCV003322656 RCV003325933 RCV003333338 RCV003494082 RCV003990416 RCV003991314 RCV003991760 RCV002260695	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs2105605019	RCV002274361	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic	rs774629025	RCV001724280	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinson disease, late-onset	Pathogenic	rs2105605264	RCV002250155	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARTHRITIS, JUVENILE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, PSORIATIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOLOGIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DELAY-LANGUAGE IMPAIRMENT-DOPA RESPONSIVE DYSTONIA-PARKINSONISM SYNDROME DUE TO 2Q24 MICRODELETION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DELAY-LANGUAGE IMPAIRMENT-DOPA RESPONSIVE DYSTONIA-PARKINSONISM SYNDROME DUE TO A NR4A2 POINT MUTATION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOPA-RESPONSIVE DYSTONIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NR4A2-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease, Dominant/Recessive	Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES, GENETIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	24086717		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	16293616		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	15292355		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	16320253	Inhibit	★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	20571502		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	28352330		★☆☆☆☆ Found in Text Mining only
Arsenic Encephalopathy	Arsenic Encephalopathy	CTD_human_DG	16835338		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	23395464		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	11315917, 19732956, 20829434, 22275273		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	11315917, 34248958	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	11315917	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	11315917, 35508128	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	22275273	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	11315917, 15972692		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis, Psoriatic	Psoriatic Arthritis	CTD_human_DG	19732956		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	22997526, 34248958	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	23395464		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	22294735	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	15635645, 15635701, 31455763		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	27569545, 30504930	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27569545, 29770430		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	30504930	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	GENOMICS_ENGLAND_DG	516625		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	22771791	Stimulate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	23437182, 29559474, 31574937, 31664129		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	31664129	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	11121187, 15211629, 15635645, 16631355		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	16631355		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	LHGDN	19074857		★☆☆☆☆ Found in Text Mining only
Blast Crisis	Blast crisis	Pubtator	32157296	Associate	★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	15635645		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23517088		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36360199	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	15635645		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19908257, 23679312	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27458175, 28423575, 33498721, 34958112	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	19570744		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35582016	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	21546879, 34946895	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	19332114	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	34946895	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	19156841		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	22275273	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	32821522	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	31746417		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	19579137, 30684217		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	25779941		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	27629381	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23809767		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16293616, 19549529, 21757690, 23809767		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	16293616		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	16293616		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	16293616		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21389643, 21757690, 23322982, 27333991	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conn Adenoma	Conn Adenoma	BEFREE	15292355, 15666793, 27777363		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30355158		★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	22230598	Associate	★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	BEFREE	21130845		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	22719822		★☆☆☆☆ Found in Text Mining only
Deaf Mutism	Deafness	CTD_human_DG	12031626, 12037390, 15722487, 9391883		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	19144107, 21725156, 23767834, 23969527, 28687817, 30036422, 30576380, 30973918, 31581539, 32048449, 33724713, 34325055, 35047053, 38084023, 38172427, 39700758	Associate	★☆☆☆☆ Found in Text Mining only
Deafness, Acquired	Deafness	CTD_human_DG	12031626, 12037390, 15722487, 9391883		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AMINOGLYCOSIDE-INDUCED	Deafness	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	23064081	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	16354184	Associate	★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	CTD_human_DG	16835338		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Development Disorder	BEFREE	19526279		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	32366965	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	37713834	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26239742, 29691953		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	37656997	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	27667480		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	25364880		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29565514, 30053855		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	Pubtator	30053855, 32366965	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	31088495	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	31110021		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	37993474	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	23322982	Associate	★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31754919		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36649564	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31754919		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	28713898, 31392215	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	33754492	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	35524416, 35813414	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	22771791	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	32028386	Associate	★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	32028386	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	34533568, 35311942	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	19082364, 19144107, 20393307, 20668687, 23469187, 25149764, 25650108, 26399936, 27230773, 27792752, 28225033, 28687817, 30036422, 32028386, 33105617, 33639928, 34032273, 34154485, 34533568, 35982127, 37801830, 38084023	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	22567152, 23969527, 27230773, 27583405, 28320335, 28687817, 29174977, 30036422, 30576380	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	28630090	Associate	★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	21546879, 27777363	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31110021		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	29593067		★☆☆☆☆ Found in Text Mining only
Hypertension Renal	Renal hypertension	Pubtator	24085434	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive Nephropathy	Hypertensive nephropathy	Pubtator	28713898	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34667209	Inhibit	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30515963		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	22719822		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	31664129	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	19156171, 30053855	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	29770430, 30053855		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	516625		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	27569545	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	BEFREE	28544326		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	GENOMICS_ENGLAND_DG	516625		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	31387183		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	32867169	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	23550059	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	37961948	Inhibit	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	12756136		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	LHGDN	12756136		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	18577687		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28423575		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	35903097	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23803035	Stimulate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	16631355		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	16631355		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	23517088		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19570744		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21822302, 23679312, 27036119		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19569046, 23821160, 26022133, 30304349		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23517088, 23809767, 23821160, 24758341, 27036119, 29042395		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23809767		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23416839		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	28607006	Associate	★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	MELAS Syndrome	BEFREE	9309702		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	33563249	Associate	★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	11121187		★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	MERRF Syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	28544326		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	18842121, 27230773, 32028386	Associate	★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	23064081	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	27940361		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	30778379		★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	16444749, 24035723, 29114475		★☆☆☆☆ Found in Text Mining only
Multiple lipomata	Multiple Lipomata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	34830117	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	15755681, 24852325, 30565812, 30684217, 31574937		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	24852325	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	30565812		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	25122688		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	25122688	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	CTD_human_DG	12031626		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	23803035		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	23803035	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15292355, 20010869, 23517088, 23679312, 23803035, 23821160, 24086717, 26022133, 28423575, 31673122, 31754919		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	36835019	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	18684475, 30853418		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	7553599		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	35163587	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30684217		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	29770430		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nodular Sclerosis Classical Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	27530448, 30235673		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	22852811, 24660976, 26011067, 28225033, 28273078		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23066323	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25738459, 29691953, 31110021		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy Hereditary Leber	Leber hereditary optic neuropathy	Pubtator	30053855	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	30053855		★☆☆☆☆ Found in Text Mining only
Oral Mucositis	Oral Mucositis	BEFREE	29865035		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	22275273	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Hip	Osteoarthritis	Pubtator	38200556	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32028386	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	28352330		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22405837, 35582016	Associate	★☆☆☆☆ Found in Text Mining only
Paratuberculosis	Paratuberculosis	BEFREE	10860713		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	10216261, 10216262, 11113533, 11121187, 11914402, 12496759, 12756136, 12815740, 12875905, 15197702, 15211629, 15276233, 15390059, 15966003, 16320253, 16532445, 17427185, 17522092, 17681692, 17879263, 17890097, 18463503, 18579122, 18684475, 18923405, 19429166, 19526279, 21936000, 22309633, 22764233, 22827504, 24126627, 25447234, 26112716, 26343921, 26490873, 27012974, 27771535, 27940361, 27977132, 28280264, 28348207, 28385514, 28452458, 28585189, 28716280, 29199243, 29209166, 29227287, 29240240, 29291419, 29429051, 29450981, 29626009, 30018702, 30121937, 30191980, 30416039, 30515963, 30582418, 30773432, 30817108, 30853418, 30949504, 31102570, 31127527, 31408200, 31455763, 31574937, 31772707		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	LHGDN	12496759, 12756136, 12815740, 15197702, 17427185, 18463503, 19065535		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	16320253, 17203291, 18684475, 19429166, 23322982, 26112716	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	19429166, 28255498		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinsonian Disorders	Parkinson Disease	BEFREE	29626009		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	29541411		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	29770430		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	22772454, 31066084		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	37674615	Associate	★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	BEFREE	19156171		★☆☆☆☆ Found in Text Mining only
Prelingual Deafness	Deafness	CTD_human_DG	12031626, 12037390, 15722487, 9391883		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	28098757		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	16320253		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21822302, 23679312, 27036119		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23679312, 27036119	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	17671512		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	LHGDN	17671512		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	17671512	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	32028386	Associate	★☆☆☆☆ Found in Text Mining only
Pulsatile Tinnitus	Pulsatile Tinnitus	CTD_human_DG	15141753		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11315917, 11884470, 12114266, 20829434, 23933487		★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	34672863	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10216261, 11121187, 11803525, 12627459, 12815740, 15211629, 15635645, 16631355, 22294735, 25982322, 27992436, 30416039, 31455763, 31574937, 31811028		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	11803525, 12815740, 15211629		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	15211629, 16631355, 17457314, 18655117, 21545404		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	22294735, 33563249	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma Systemic	Systemic sclerosis	Pubtator	36482877	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	32366965	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	12806294, 27397648, 29174977		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	25953901		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	28621822	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	23950896	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31387183	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	25779941		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	31110021		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19569046, 23821160, 26022133, 30304349		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	12970877		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24086717	Associate	★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	BEFREE	29865035		★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	Pubtator	29865035	Associate	★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	16320253	Inhibit	★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	16320253		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29309924		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	16631355		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	16631355		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	19908257	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	37932662	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	36011316	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	22049082	Associate	★☆☆☆☆ Found in Text Mining only