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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5649
Gene name	Reelin
Gene symbol	RELN
Synonyms (NCBI Gene)	ETL7LIS2PRO1598RL
Chromosome	7
Chromosome location	7q22.1
Summary	This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorde

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SNP ID	Visualize variation	Clinical significance	Consequence
rs362800	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs3025962	T>C	Pathogenic, benign, likely-benign	Missense variant, coding sequence variant
rs55656324	CGCCGCCGCCGCCGC>-,CGC,CGCCGC,CGCCGCCGC,CGCCGCCGCCGC,CGCCGCCGCCGCCGCCGC,CGCCGCCGCCGCCGCCGCCGC,CGCCGCCGCCGCCGCCGCCGCCGC,CGCCGCCGCCGCCGCCGCCGCCGCCGC,CGCCGCCGCCGCCGCCGCCGCCGCCGCCGC,CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC,CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC,CGCCGCC	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, likely-benign, benign-likely-benign	Inframe insertion, 5 prime UTR variant
rs55693709	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs56342240	G>C	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs78480723	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs79161241	G>A	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs79499902	C>T	Likely-benign, benign, benign-likely-benign, pathogenic	Missense variant, coding sequence variant
rs113242008	G>C	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs113998363	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs114389730	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs114620008	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs114647348	G>C	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs114684479	G>T	Likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs114807343	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs137974322	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs139102992	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs139321058	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs139648092	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs141387255	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs143050366	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs144557847	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs146749232	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs146922726	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs147496823	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs147933593	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs149121159	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs150236371	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs150743664	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs188372756	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs200289289	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200299096	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201044262	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs369993428	T>C	Pathogenic	Missense variant, coding sequence variant
rs372473867	A>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs375230548	T>C,G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs398124191	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs544717229	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs554215103	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs560704715	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs587780435	G>T	Pathogenic	Coding sequence variant, stop gained
rs587780436	->GGAGAGTGGAAGGT	Pathogenic	Coding sequence variant, frameshift variant
rs587780437	C>T	Pathogenic	Splice donor variant
rs746613525	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs755634872	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs760019076	T>C	Pathogenic	Coding sequence variant, missense variant
rs764121311	T>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs768119894	T>C	Pathogenic	Coding sequence variant, missense variant
rs794727996	G>T	Pathogenic	Coding sequence variant, missense variant
rs794727998	T>C	Pathogenic	Coding sequence variant, missense variant
rs797045000	G>A	Pathogenic	Coding sequence variant, missense variant
rs797045912	->A	Pathogenic	Coding sequence variant, frameshift variant
rs797045915	G>A	Pathogenic	Coding sequence variant, stop gained
rs863223389	C>T	Pathogenic	Coding sequence variant, missense variant
rs869320767	C>T	Pathogenic	Splice donor variant
rs1057517814	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518108	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1554397852	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554404013	G>T	Pathogenic	Coding sequence variant, stop gained
rs1554404337	G>TGACCCTGAATAACTAAAGCTGGGGTCTGAATA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554404338	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554453517	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1562961475	C>T	Pathogenic	Coding sequence variant, stop gained

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miRTarBase ID	miRNA	Experiments	Reference
MIRT001071	hsa-miR-128-3p	qRT-PCRWestern blot	19713529
MIRT001071	hsa-miR-128-3p	qRT-PCRWestern blot	19713529
MIRT001071	hsa-miR-128-3p	Luciferase reporter assay	19713529
MIRT001071	hsa-miR-128-3p	Luciferase reporter assay	19713529
MIRT001071	hsa-miR-128-3p	Luciferase reporter assay	19713529
MIRT007273	hsa-miR-138-5p	Luciferase reporter assay	23438760
MIRT007273	hsa-miR-138-5p	Luciferase reporter assay	23438760
MIRT047548	hsa-miR-10a-5p	CLASH	23622248
MIRT1300214	hsa-miR-1200	CLIP-seq
MIRT1300215	hsa-miR-1253	CLIP-seq
MIRT1300216	hsa-miR-128	CLIP-seq
MIRT1300217	hsa-miR-205	CLIP-seq
MIRT1300218	hsa-miR-27a	CLIP-seq
MIRT1300219	hsa-miR-27b	CLIP-seq
MIRT1300220	hsa-miR-3074-5p	CLIP-seq
MIRT1300221	hsa-miR-3145-3p	CLIP-seq
MIRT1300222	hsa-miR-3153	CLIP-seq
MIRT1300223	hsa-miR-3154	CLIP-seq
MIRT1300224	hsa-miR-3158-3p	CLIP-seq
MIRT1300225	hsa-miR-34b	CLIP-seq
MIRT1300226	hsa-miR-3691-3p	CLIP-seq
MIRT1300227	hsa-miR-4302	CLIP-seq
MIRT1300228	hsa-miR-4648	CLIP-seq
MIRT1300229	hsa-miR-4654	CLIP-seq
MIRT1300230	hsa-miR-4668-5p	CLIP-seq
MIRT1300231	hsa-miR-4769-5p	CLIP-seq
MIRT1300232	hsa-miR-513a-5p	CLIP-seq
MIRT1300233	hsa-miR-580	CLIP-seq
MIRT1300234	hsa-miR-185	CLIP-seq
MIRT1300235	hsa-miR-186	CLIP-seq
MIRT1300236	hsa-miR-4306	CLIP-seq
MIRT1300237	hsa-miR-4644	CLIP-seq
MIRT1300238	hsa-miR-4717-3p	CLIP-seq
MIRT1300239	hsa-miR-4781-3p	CLIP-seq
MIRT1300240	hsa-miR-7	CLIP-seq
MIRT2089223	hsa-miR-331-5p	CLIP-seq
MIRT2089224	hsa-miR-4275	CLIP-seq
MIRT2089225	hsa-miR-4635	CLIP-seq
MIRT2089226	hsa-miR-4678	CLIP-seq
MIRT2089227	hsa-miR-4775	CLIP-seq
MIRT2089228	hsa-miR-526b	CLIP-seq
MIRT2089229	hsa-miR-590-3p	CLIP-seq
MIRT1300225	hsa-miR-34b	CLIP-seq

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Transcription factor	Regulation	Reference
DNMT1	Repression	19029285
HDAC1	Repression	19029285
MECP2	Repression	19029285
TBR1	Unknown	19165920

112

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0000902	Process	Cell morphogenesis	ISS
GO:0001764	Process	Neuron migration	IBA
GO:0001764	Process	Neuron migration	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0001764	Process	Neuron migration	ISS
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	ISO
GO:0005615	Component	Extracellular space	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005886	Component	Plasma membrane	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007411	Process	Axon guidance	ISS
GO:0007417	Process	Central nervous system development	IBA
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	ISS
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	ISS
GO:0007612	Process	Learning	IEA
GO:0007616	Process	Long-term memory	IEA
GO:0007616	Process	Long-term memory	ISS
GO:0007626	Process	Locomotory behavior	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	ISS
GO:0008306	Process	Associative learning	IEA
GO:0008306	Process	Associative learning	ISS
GO:0010001	Process	Glial cell differentiation	IEA
GO:0010001	Process	Glial cell differentiation	ISS
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0010976	Process	Positive regulation of neuron projection development	ISS
GO:0016358	Process	Dendrite development	IEA
GO:0016477	Process	Cell migration	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0021511	Process	Spinal cord patterning	IEA
GO:0021511	Process	Spinal cord patterning	ISS
GO:0021517	Process	Ventral spinal cord development	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021766	Process	Hippocampus development	ISS
GO:0021800	Process	Cerebral cortex tangential migration	IEA
GO:0021800	Process	Cerebral cortex tangential migration	ISS
GO:0021819	Process	Layer formation in cerebral cortex	IEA
GO:0021819	Process	Layer formation in cerebral cortex	ISS
GO:0021987	Process	Cerebral cortex development	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030900	Process	Forebrain development	IEA
GO:0031012	Component	Extracellular matrix	IEA
GO:0032008	Process	Positive regulation of TOR signaling	IEA
GO:0032008	Process	Positive regulation of TOR signaling	ISS
GO:0035418	Process	Protein localization to synapse	IEA
GO:0035418	Process	Protein localization to synapse	ISS
GO:0038026	Process	Reelin-mediated signaling pathway	IEA
GO:0038026	Process	Reelin-mediated signaling pathway	ISS	10571240
GO:0038026	Process	Reelin-mediated signaling pathway	NAS	21844191
GO:0043005	Component	Neuron projection	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	ISS
GO:0045664	Process	Regulation of neuron differentiation	NAS	28887403
GO:0046872	Function	Metal ion binding	IEA
GO:0048018	Function	Receptor ligand activity	IEA
GO:0048018	Function	Receptor ligand activity	ISS
GO:0048265	Process	Response to pain	IEA
GO:0048265	Process	Response to pain	ISS
GO:0050795	Process	Regulation of behavior	IEA
GO:0050795	Process	Regulation of behavior	ISS
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	ISS
GO:0051057	Process	Positive regulation of small GTPase mediated signal transduction	IEA
GO:0051057	Process	Positive regulation of small GTPase mediated signal transduction	ISS
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	IEA
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	ISS
GO:0060025	Process	Regulation of synaptic activity	NAS	28887403
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0061003	Process	Positive regulation of dendritic spine morphogenesis	IEA
GO:0061003	Process	Positive regulation of dendritic spine morphogenesis	ISS
GO:0070325	Function	Lipoprotein particle receptor binding	IBA
GO:0070325	Function	Lipoprotein particle receptor binding	IEA
GO:0070325	Function	Lipoprotein particle receptor binding	ISS	10571240
GO:0070326	Function	Very-low-density lipoprotein particle receptor binding	IEA
GO:0070326	Function	Very-low-density lipoprotein particle receptor binding	ISS	10571240
GO:0090128	Process	Regulation of synapse maturation	IEA
GO:0090129	Process	Positive regulation of synapse maturation	IEA
GO:0090129	Process	Positive regulation of synapse maturation	ISS
GO:0097107	Process	Postsynaptic density assembly	IEA
GO:0097107	Process	Postsynaptic density assembly	ISS
GO:0097114	Process	NMDA glutamate receptor clustering	IEA
GO:0097114	Process	NMDA glutamate receptor clustering	ISS
GO:0097119	Process	Postsynaptic density protein 95 clustering	IEA
GO:0097119	Process	Postsynaptic density protein 95 clustering	ISS
GO:0097120	Process	Receptor localization to synapse	IEA
GO:0097120	Process	Receptor localization to synapse	ISS
GO:0097475	Process	Motor neuron migration	IEA
GO:0097477	Process	Lateral motor column neuron migration	IEA
GO:0110157	Component	Reelin complex	IDA	21844191
GO:1900273	Process	Positive regulation of long-term synaptic potentiation	IEA
GO:1900273	Process	Positive regulation of long-term synaptic potentiation	ISS
GO:1902078	Process	Positive regulation of lateral motor column neuron migration	IEA
GO:1904936	Process	Interneuron migration	IEA
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	IEA
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISS
GO:2001222	Process	Regulation of neuron migration	ISS
GO:2001222	Process	Regulation of neuron migration	NAS	28887403

MIM	HGNC	e!Ensembl
600514	9957	ENSG00000189056

P78509

Protein name

Reelin (EC 3.4.21.-)

Protein function

Extracellular matrix serine protease secreted by pioneer neurons that plays a role in layering of neurons in the cerebral cortex and cerebellum by coordinating cell positioning during neurodevelopment. Regulates microtubule function in neurons a

PDB

8G21

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02014	Reeler	41 → 170	Reeler domain	Family
PF18720	EGF_Tenascin	3230 → 3259	Tenascin EGF domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Abundantly produced during brain ontogenesis by the Cajal-Retzius cells and other pioneer neurons located in the telencephalic marginal zone and by granule cells of the external granular layer of the cerebellum. In adult brain, prefere

Sequence

MERSGWARQTFLLALLLGATLRARAAAGYYPRFSPFFFLCTHHGELEGDGEQGEVLISLH
IAGNPTYYVPGQEYHVTISTSTFFDGLLVTGLYTSTSVQASQSIGGSSAFGFGIMSDHQF
GNQFMCSVVASHVSHLPTTNLSFIWIAPPAGTGCVNFMATATHRGQVIFKDALAQQLCEQ
GAPTDVTVHPHLAEIHSDSIILRDDFDSYHQLQLNPNIWVECNNCETGEQCGAIMHGNAV
TFCEPYGPRELITTGLNTTTASVLQFSIGSGSCRFSYSDPSIIVLYAKNNSADWIQLEKI
RAPSNVSTIIHILYLPEDAKGENVQFQWKQENLRVGEVYEACWALDNILIINSAHRQVVL
EDSLDPVDTGNWLFFPGATVKHSCQSDGNSIYFHGNEGSEFNFATTRDVDLSTEDIQEQW
SEEFESQPTGWDVLGAVIGTECGTIESGLSMVFLKDGERKLCTPSMDTTGYGNLRFYFVM
GGICDPGNSHENDIILYAKIEGRKEHITLDTLSYSSYKVPSLVSVVINPELQTPATKFCL
RQKNHQGHNRNVWAVDFFHVLPVLPSTMSHMIQFSINLGCGTHQPGNSVSLEFSTNHGRS
WSLLHTECLPEICAGPHLPHSTVYSSENYSGWNRITIPLPNAALTRNTRIRWRQTGPILG
NMWAIDNVYIGPSCLKFCSGRGQCTRHGCKCDPGFSGPACEMASQTFPMFISESFGSSRL
SSYHNFYSIRGAEVSFGCGVLASGKALVFNKDGRRQLITSFLDSSQSRFLQFTLRLGSKS
VLSTCRAPDQPGEGVLLHYSYDNGITWKLLEHYSYLSYHEPRIISVELPGDAKQFGIQFR
WWQPYHSSQREDVWAIDEIIMTSVLFNSISLDFTNLVEVTQSLGFYLGNVQPYCGHDWTL
CFTGDSKLASSMRYVETQSMQIGASYMIQFSLVMGCGQKYTPHMDNQVKLEYSTNHGLTW
HLVQEECLPSMPSCQEFTSASIYHASEFTQWRRVIVLLPQKTWSSATRFRWSQSYYTAQD
EWALDSIYIGQQCPNMCSGHGSCDHGICRCDQGYQGTECHPEAALPSTIMSDFENQNGWE
SDWQEVIGGEIVKPEQGCGVISSGSSLYFSKAGKRQLVSWDLDTSWVDFVQFYIQIGGES
ASCNKPDSREEGVLLQYSNNGGIQWHLLAEMYFSDFSKPRFVYLELPAAAKTPCTRFRWW
QPVFSGEDYDQWAVDDIIILSEKQKQIIPVINPTLPQNFYEKPAFDYPMNQMSVWLMLAN
EGMVKNETFCAATPSAMIFGKSDGDRFAVTRDLTLKPGYVLQFKLNIGCANQFSSTAPVL
LQYSHDAGMSWFLVKEGCYPASAGKGCEGNSRELSEPTMYHTGDFEEWTRITIVIPRSLA
SSKTRFRWIQESSSQKNVPPFGLDGVYISEPCPSYCSGHGDCISGVCFCDLGYTAAQGTC
VSNVPNHNEMFDRFEGKLSPLWYKITGAQVGTGCGTLNDGKSLYFNGPGKREARTVPLDT
RNIRLVQFYIQIGSKTSGITCIKPRTRNEGLIVQYSNDNGILWHLLRELDFMSFLEPQII
SIDLPQDAKTPATAFRWWQPQHGKHSAQWALDDVLIGMNDSSQTGFQDKFDGSIDLQANW
YRIQGGQVDIDCLSMDTALIFTENIGKPRYAETWDFHVSASTFLQFEMSMGCSKPFSNSH
SVQLQYSLNNGKDWHLVTEECVPPTIGCLHYTESSIYTSERFQNWKRITVYLPLSTISPR
TRFRWIQANYTVGADSWAIDNVVLASGCPWMCSGRGICDAGRCVCDRGFGGPYCVPVVPL
PSILKDDFNGNLHPDLWPEVYGAERGNLNGETIKSGTSLIFKGEGLRMLISRDLDCTNTM
YVQFSLRFIAKSTPERSHSILLQFSISGGITWHLMDEFYFPQTTNILFINVPLPYTAQTN
ATRFRLWQPYNNGKKEEIWIVDDFIIDGNNVNNPVMLLDTFDFGPREDNWFFYPGGNIGL
YCPYSSKGAPEEDSAMVFVSNEVGEHSITTRDLNVNENTIIQFEINVGCSTDSSSADPVR
LEFSRDFGATWHLLLPLCYHSSSHVSSLCSTEHHPSSTYYAGTMQGWRREVVHFGKLHLC
GSVRFRWYQGFYPAGSQPVTWAIDNVYIGPQCEEMCNGQGSCINGTKCICDPGYSGPTCK
ISTKNPDFLKDDFEGQLESDRFLLMSGGKPSRKCGILSSGNNLFFNEDGLRMLMTRDLDL
SHARFVQFFMRLGCGKGVPDPRSQPVLLQYSLNGGLSWSLLQEFLFSNSSNVGRYIALEI
PLKARSGSTRLRWWQPSENGHFYSPWVIDQILIGGNISGNTVLEDDFTTLDSRKWLLHPG
GTKMPVCGSTGDALVFIEKASTRYVVSTDVAVNEDSFLQIDFAASCSVTDSCYAIELEYS
VDLGLSWHPLVRDCLPTNVECSRYHLQRILVSDTFNKWTRITLPLPPYTRSQATRFRWHQ
PAPFDKQQTWAIDNVYIGDGCIDMCSGHGRCIQGNCVCDEQWGGLYCDDPETSLPTQLKD
NFNRAPSSQNWLTVNGGKLSTVCGAVASGMALHFSGGCSRLLVTVDLNLTNAEFIQFYFM
YGCLITPNNRNQGVLLEYSVNGGITWNLLMEIFYDQYSKPGFVNILLPPDAKEIATRFRW
WQPRHDGLDQNDWAIDNVLISGSADQRTVMLDTFSSAPVPQHERSPADAGPVGRIAFDMF
MEDKTSVNEHWLFHDDCTVERFCDSPDGVMLCGSHDGREVYAVTHDLTPTEGWIMQFKIS
VGCKVSEKIAQNQIHVQYSTDFGVSWNYLVPQCLPADPKCSGSVSQPSVFFPTKGWKRIT
YPLPESLVGNPVRFRFYQKYSDMQWAIDNFYLGPGCLDNCRGHGDCLREQCICDPGYSGP
NCYLTHTLKTFLKERFDSEEIKPDLWMSLEGGSTCTECGILAEDTALYFGGSTVRQAVTQ
DLDLRGAKFLQYWGRIGSENNMTSCHRPICRKEGVLLDYSTDGGITWTLLHEMDYQKYIS
VRHDYILLPEDALTNTTRLRWWQPFVISNGIVVSGVERAQWALDNILIGGAEINPSQLVD
TFDDEGTSHEENWSFYPNAVRTAGFCGNPSFHLYWPNKKKDKTHNALSSRELIIQPGYMM
QFKIVVGCEATSCGDLHSVMLEYTKDARSDSWQLVQTQCLPSSSNSIGCSPFQFHEATIY
NSVNSSSWKRITIQLPDHVSSSATQFRWIQKGEETEKQSWAIDHVYIGEACPKLCSGHGY
CTTGAICICDESFQGDDCSVFSHDLPSYIKDNFESARVTEANWETIQGGVIGSGCGQLAP
YAHGDSLYFNGCQIRQAATKPLDLTRASKIMFVLQIGSMSQTDSCNSDLSGPHAVDKAVL
LQYSVNNGITWHVIAQHQPKDFTQAQRVSYNVPLEARMKGVLLRWWQPRHNGTGHDQWAL
DHVEVVLVSTRKQNYMMNFSRQHGLRHFYNRRRRSLRRYP

Sequence length

3460

Interactions

View interactions

	KEGG		Reactome
	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction Spinocerebellar ataxia Human papillomavirus infection		Reelin signalling pathway

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 (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Familial cancer of breast	Likely pathogenic	rs2485205855	RCV005926758	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial temporal lobe epilepsy 7	Likely pathogenic; Pathogenic	rs2117168257, rs2117350995, rs2117208388, rs2117248586, rs1226957030, rs2117021067, rs2117139699, rs2117204949, rs2117188195, rs2117255208, rs2117348851, rs2117126444, rs2117205170, rs1829533362, rs2117189408 View all (40 more)	RCV001377913 RCV001377531 RCV001388160 RCV001387211 RCV001882617 View all (50 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lissencephaly	Likely pathogenic	rs1830201852, rs1830268919, rs1831726447, rs1487246488	RCV001291449 RCV001291200 RCV001291199 RCV001291311	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Norman-Roberts syndrome	Likely pathogenic; Pathogenic	rs2117168257, rs2117350995, rs2117208388, rs2117248586, rs1226957030, rs2116670615, rs1451240853, rs2117021067, rs2117139699, rs587780435, rs587780436, rs587780437, rs2117204949, rs2117188195, rs2117255208 View all (49 more)	RCV001377913 RCV001377531 RCV001388160 RCV001387211 RCV001882617 View all (59 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RELN-related disorder	Likely pathogenic	rs2485717851	RCV003314098	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Self-limited epilepsy with centrotemporal spikes	Pathogenic	rs751409835, rs369993428	RCV000655998 RCV000656000	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (74)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, SACROILIAC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT LATERAL TEMPORAL LOBE EPILEPSY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER, MAJOR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY WITH AUDITORY FEATURES	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, FAMILIAL TEMPORAL LOBE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, familial temporal lobe, 1	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar CTD, ClinVar, HPO CTD, ClinVar, HPO CTD, ClinVar, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPILEPSY, FAMILIAL TEMPORAL LOBE, 7	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ROLANDIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized epilepsy with febrile seizures plus, type 2	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LISSENCEPHALY 2	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY WITH CEREBELLAR HYPOPLASIA	—	CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly, Recessive	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSION, SINGLE EPISODE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental delay	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOSCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECURRENT MAJOR DEPRESSIVE EPISODES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC FEVER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SACROILIAC JOINT SYNOVITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS, UNSPECIFIED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SJOGREN SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNOVITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ 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
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (212)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	20610758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	16567613, 20452100, 22486522, 23951306, 30704480, 35466940, 35886870, 35977442, 36561735, 37467729, 38093390	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	30704480	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	20610758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	20610758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	22486522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	20610758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	20610758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	24599114, 26152694, 27531658, 27866325, 29442527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	28142128	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	26980442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	35769015	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	30343341		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	26980442		★★★★★ ★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	29753726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	29753726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28506622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	24448211, 28229923, 32393163, 34356069, 35403940, 35668055	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	12399956, 17955477, 18597938, 24448211, 24453138, 28127276, 28229923, 28419454, 29753726, 29969175, 30668980, 31607872		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	24781735, 28191889		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	11317216, 11814262, 12192627, 12363196, 12583844, 14515139, 14755445, 15048647, 15048648, 15167692, 15558079, 15749247, 15820235, 16311013, 16556465 View all (13 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	11317216, 11814262, 20442744		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	LHGDN	12192627, 12363196, 15048648, 16941662		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	16311013, 18378158, 20442744, 23216241, 23287318, 23575222, 24204716, 35769015, 36039581	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	23216241, 25067827	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant epilepsy with auditory features	Epilepsy With Auditory Features	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Lateral Temporal Lobe Epilepsy	Temporal lobe epilepsy	ORPHANET_DG	26046367		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Dominant Lateral Temporal Lobe Epilepsy	Temporal lobe epilepsy	BEFREE	28142128		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Dominant Lateral Temporal Lobe Epilepsy	Lateral temporal lobe epilepsy	Pubtator	28142128	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	11059795, 15108180, 19691043, 21863557, 25364290, 26637325, 28583708		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	CTD_human_DG	11126396, 14708030, 15560956		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	12087179, 19691043	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	19691043, 21603580, 21863557, 25476119, 31540999	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	20849864, 21814183, 21863557, 22981949, 25364290		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Borderline Personality Disorder	Borderline personality disorder	BEFREE	26637325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	18378158, 24395782	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20847288, 28124184, 28210910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20847288, 23563089, 24395782, 28210910	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	26637325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35034536	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	27078887	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	18820670	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28710314	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	26980442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	16538086, 16958033, 28165338, 31805691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	35769015	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	28943410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	30127215	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	15820235, 16266828, 22981949, 24599114, 27843148		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	19922905, 37350760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	27915032, 28572005		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11880184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27434856, 28572005		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31341364	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizure with impairment of consciousness	Dyscognitive seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	16958033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	BEFREE	15578573		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	12645087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	20452100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	20452100	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	CTD_human_DG	11126396, 14708030, 15560956		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depression, Neurotic	Mental Depression	CTD_human_DG	14708030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	14708030, 20849864, 21814183, 23608736		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	CTD_human_DG	14708030		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	27537376, 27653801, 29515447		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Syndrome	Mental Depression	CTD_human_DG	14708030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	28484035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35769015	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	37680885	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30054458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	20025970, 30395007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	30199849		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10973257, 11748497, 16958033, 17431900, 17955477, 24267886, 25621899, 25648840, 26046367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endogenous depression	Mental Depression	CTD_human_DG	14708030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	19633980, 20188170, 20697953, 29512697, 31020005		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	20697953, 28142128, 31020005, 35769015	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	12122039, 28633043	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Familial Temporal Lobe 1	Epilepsy	BEFREE	28142128		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Familial Temporal Lobe 1	Epilepsy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, FAMILIAL TEMPORAL LOBE, 7	Epilepsy	UNIPROT_DG	26046367		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, FAMILIAL TEMPORAL LOBE, 7	Epilepsy	GENOMICS_ENGLAND_DG	26046367		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, FAMILIAL TEMPORAL LOBE, 7	Epilepsy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, FAMILIAL TEMPORAL LOBE, 7	Epilepsy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Lateral Temporal	Epilepsy	BEFREE	26046367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	CLINVAR_DG	29358611		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	12122039, 19287316, 28633043, 31150999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	LHGDN	12122039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	11880184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	22393371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	22868000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Neoplasms	Eye neoplasms	Pubtator	32393163	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	20610758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28348420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	22203331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia	Focal cortical dysplasia	BEFREE	22203331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	12200628, 15175076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized tonic-clonic seizures with focal onset	Bilateral convulsive seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29222813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29222813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34479497	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	40629603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	39615603	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	28348420	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	27889765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	GENOMICS_ENGLAND_DG	27889765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	27889765	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	11748497, 16958033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	GENOMICS_ENGLAND_DG	27889765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	GENOMICS_ENGLAND_DG	27889765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	33208564	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	15820235, 22981949, 23083916, 24599114, 27406263, 27843148, 27866325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27000652		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	35769015	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Involutional Depression	Involutional Depression	CTD_human_DG	11126396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Involutional paraphrenia	Involutional Paraphrenia	CTD_human_DG	11126396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	BEFREE	16266828, 16538086, 16958033, 22981949, 23583063, 27000652, 28484035, 31805691		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly	Lissencephaly	Pubtator	35769015	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE	Norman-Roberts syndrome	ORPHANET_DG	10973257		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE	Norman-Roberts syndrome	GENOMICS_ENGLAND_DG	10973257, 7682675		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly syndrome, Norman-Roberts type	Norman-Roberts syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE	Norman-Roberts syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE	Norman-Roberts syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	20734148, 30447345		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	28348420	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	28498462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	28498462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	28498462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	CTD_human_DG	11126396		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	22981949, 23608736		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development	Malformation of cortical development	BEFREE	26523971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	10208446, 12122039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20847288, 28124184, 28210910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	16472607, 20847288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19956836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28498462, 29222813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	20847288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	CTD_human_DG	11126396, 14708030, 15560956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Manic Disorder	Manic Disorder	CTD_human_DG	11126396, 14708030, 15560956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	36849558	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melancholia	Melancholia	CTD_human_DG	14708030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	36497098	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	14708030, 20849864, 21814183, 23608736		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	27537376, 27653801, 29515447		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	16958033, 17310238, 19110320, 21603580, 26637325, 26762856, 27537376, 28127276, 28506622, 30022058, 30397000, 31848032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	26503265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	24384746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	BEFREE	15578573		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	29961995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	16556465, 28711473, 29680575		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	16556465		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	BEFREE	26848618, 27245998, 28345605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	26848618, 28210910	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29961995, 30777599		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonic dystonia	Myoclonic Dystonia	BEFREE	25648840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19698788, 19956836, 20734148, 29542868, 30061226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	19829293	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	26046367, 27653801, 27843148		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	12087179	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19713529, 20025970, 22614235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	16567613	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28213441, 31463906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	16941662, 22981949, 30001399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	11059795, 15864560, 15961543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan syndrome	Pubtator	26173643	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31230943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	BEFREE	19230858, 19847460, 20642811, 20882487, 21630058, 24227897, 24643032, 29728750		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Otosclerosis	Otosclerosis	GWASDB_DG	19230858		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Otosclerosis	Otosclerosis	GWASCAT_DG	19230858		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Otosclerosis	Otosclerosis	Pubtator	19230858, 20882487, 29728750	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pachygyria	Pachygyria	BEFREE	16958033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	16472607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	16472607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paranoid Schizophrenia	Paranoid Schizophrenia	BEFREE	9861036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34356083	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	BEFREE	16538086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	17955477, 18597938, 28419454, 29969175, 31607872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	20452100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	20610758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17277764	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychosis, Involutional	Psychosis	CTD_human_DG	11126396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	11059795, 15864560, 15961543, 30022058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	12087179	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	22163036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	19054571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	22868000	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	31857537	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	CTD_human_DG	11126396, 14708030, 15560956, 19110320		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	11592844, 11786309, 12363388, 12610647, 12931209, 14684836, 15108180, 15671176, 15717292, 15864560, 15961543, 15965968, 16266828, 16510495, 16513881 View all (56 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	12082559, 12931209, 15961543, 15965968, 17684500, 17870056, 18282107		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	12087179, 19691043	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	17270400, 19922905, 21603580, 21863557, 21876540, 25476119, 30022058, 31540999, 31848032, 35769015	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASDB_DG	18282107		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	18282107		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	28142128, 33453592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren`s Syndrome	Sjogren`s Syndrome	GWASCAT_DG	28076899		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 37	Spinocerebellar Ataxia	BEFREE	29939198		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	BEFREE	23236151, 31805691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	23236151	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	32001840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11880184, 19956836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20847288	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	35769015	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	Pubtator	28142128	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	CTD_human_DG	14708030		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	22981949, 23608736		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	38307969	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	28142128	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RELN (reelin)