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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5649
Gene name Gene Name - the full gene name approved by the HGNC.	Reelin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RELN
Synonyms (NCBI Gene) Gene synonyms aliases	ETL7, LIS2, PRO1598, RL
Disease Acronyms (UniProt) Disease acronyms from UniProt database	ETL7, LIS2
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q22.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(63)

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

Show/Hide all(43)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001071	hsa-miR-128-3p	qRT-PCR, Western blot	19713529
MIRT001071	hsa-miR-128-3p	qRT-PCR, Western 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

Transcription factors

Show/Hide all(4)

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

Show/Hide all(43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000904	Process	Cell morphogenesis involved in differentiation	ISS
GO:0001764	Process	Neuron migration	IBA	21873635
GO:0001764	Process	Neuron migration	ISS
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	ISS
GO:0005737	Component	Cytoplasm	ISS
GO:0006508	Process	Proteolysis	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007411	Process	Axon guidance	ISS
GO:0007411	Process	Axon guidance	TAS
GO:0007417	Process	Central nervous system development	IBA	21873635
GO:0007417	Process	Central nervous system development	ISS
GO:0007420	Process	Brain development	ISS
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0010001	Process	Glial cell differentiation	ISS
GO:0010976	Process	Positive regulation of neuron projection development	ISS
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	ISS
GO:0021511	Process	Spinal cord patterning	ISS
GO:0021766	Process	Hippocampus development	ISS
GO:0021800	Process	Cerebral cortex tangential migration	ISS
GO:0030425	Component	Dendrite	ISS
GO:0032793	Process	Positive regulation of CREB transcription factor activity	ISS
GO:0038026	Process	Reelin-mediated signaling pathway	ISS	10571240
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0045860	Process	Positive regulation of protein kinase activity	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048265	Process	Response to pain	ISS
GO:0050731	Process	Positive regulation of peptidyl-tyrosine phosphorylation	ISS	10571240
GO:0050795	Process	Regulation of behavior	ISS
GO:0050804	Process	Modulation of chemical synaptic transmission	ISS
GO:0051057	Process	Positive regulation of small GTPase mediated signal transduction	ISS
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	ISS
GO:0061003	Process	Positive regulation of dendritic spine morphogenesis	ISS
GO:0061098	Process	Positive regulation of protein tyrosine kinase activity	ISS
GO:0070325	Function	Lipoprotein particle receptor binding	IBA	21873635
GO:0070325	Function	Lipoprotein particle receptor binding	ISS	10571240
GO:0070326	Function	Very-low-density lipoprotein particle receptor binding	ISS	10571240
GO:0090129	Process	Positive regulation of synapse maturation	ISS
GO:1900273	Process	Positive regulation of long-term synaptic potentiation	ISS
GO:2000310	Process	Regulation of NMDA receptor activity	ISS
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISS
GO:2000969	Process	Positive regulation of AMPA receptor activity	ISS

MIM	HGNC	e!Ensembl
600514	9957	ENSG00000189056

Protein

UniProt ID

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

Show/Hide Causal Diseases (13)

Disease term	Disease name	dbSNP ID	References
Causal
Alzheimer disease	Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039 View all (65 more)	20610758
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728 View all (51 more)	24781735, 28191889
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)	20442744, 11317216, 11814262
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)	30054458
Epilepsy	Epilepsy, Rolandic, EPILEPSY, FAMILIAL TEMPORAL LOBE, 7, Epilepsy, Familial Temporal Lobe 1	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670 View all (165 more)	29358611, 26046367
Epilepsy with auditory features	Autosomal dominant epilepsy with auditory features	rs104894166, rs119488099, rs797044999, rs797044998, rs1060502054, rs1060502053, rs1064794249, rs1554907787, rs1554907767, rs1564845068, rs1564851314, rs1589776148, rs1364913665
Temporal lobe epilepsy	Autosomal Dominant Lateral Temporal Lobe Epilepsy	rs794727996, rs794727997, rs794727998, rs794727999, rs1057517661	26046367
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323 View all (4 more)	27889765
Norman-roberts syndrome	LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE, Lissencephaly syndrome, Norman-Roberts type	rs2117170464, rs587780435, rs587780436, rs587780437, rs797045915, rs797045912, rs869320767, rs1586472959	10973257, 7682675
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	19110320, 18282107, 14708030, 15560956, 11126396
Seizure	Complex partial seizures, Generalized seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061 View all (179 more)

Show/Hide Unknown Diseases (12)

Disease term	Disease name	References	Source
Unknown
Huntington disease	Huntington Disease	27889765	ClinVar
Mental depression	Mental Depression, Endogenous depression, Depressive disorder, Unipolar Depression, Depressive Syndrome, Depression, Neurotic, Major Depressive Disorder	23608736, 20849864, 14708030, 21814183, 22981949, 11126396	ClinVar
Roberts Syndrome	Norman-Roberts syndrome		GenCC
Cerebellar Hypoplasia	lissencephaly with cerebellar hypoplasia		GenCC
Ankylosing Spondylitis	ankylosing spondylitis		GenCC
Neurodevelopmental Disorders	complex neurodevelopmental disorder		GenCC
Otosclerosis	Otosclerosis		GWAS
Diabetes	Diabetes		GWAS
Metabolic Syndrome	Metabolic Syndrome		GWAS
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome		GWAS
Restless Legs Syndrome	Restless Legs Syndrome		GWAS
Insomnia	Insomnia		GWAS

Show/Hide Text Mining Associations (85)

Disease Name	Relationship Type	References
Associations from Text Mining
Abnormalities Drug Induced	Associate	28142128
Alcoholism	Associate	37350760
Alzheimer Disease	Associate	16567613, 20452100, 22486522, 23951306, 30704480, 35466940, 35886870, 35977442, 36561735, 37467729, 38093390
Alzheimer Disease	Inhibit	30704480
Aphasia	Associate	28142128
Ataxia	Associate	35769015
Autism Spectrum Disorder	Associate	24448211, 28229923, 32393163, 34356069, 35403940, 35668055
Autistic Disorder	Associate	16311013, 18378158, 20442744, 23216241, 23287318, 23575222, 24204716, 35769015, 36039581
Autistic Disorder	Inhibit	23216241, 25067827
Autosomal Dominant Lateral Temporal Lobe Epilepsy	Associate	28142128
Bipolar Disorder	Inhibit	12087179, 19691043
Bipolar Disorder	Associate	19691043, 21603580, 21863557, 25476119, 31540999
Brain Diseases	Associate	18378158, 24395782
Breast Neoplasms	Associate	20847288, 23563089, 24395782, 28210910
Carcinoma Hepatocellular	Inhibit	35034536
Carcinoma Lobular	Associate	27078887
Carcinoma Non Small Cell Lung	Associate	22980976, 32764530, 36497098
Carcinoma Pancreatic Ductal	Associate	18820670
Carcinoma Renal Cell	Associate	28710314
Cerebellar Hypoplasia	Associate	35769015
Chemical and Drug Induced Liver Injury	Associate	28348420
Cleft Lip	Associate	30127215
Cognition Disorders	Associate	19922905, 37350760
Colorectal Neoplasms	Associate	31341364
Coxa Magna	Associate	33542623
Dementia	Associate	20452100
Developmental Disabilities	Associate	35769015
Diabetes Mellitus Type 2	Associate	37680885
Diffuse Neurofibrillary Tangles with Calcification	Associate	20452100
Disease	Associate	21603580
Drug Resistant Epilepsy	Associate	27094248
Epilepsy	Associate	20697953, 28142128, 31020005, 35769015
Epilepsy Temporal Lobe	Associate	12122039, 28633043
Esophageal Neoplasms	Associate	22393371
Eye Neoplasms	Associate	32393163
Glioma	Associate	34479497
Glomerulonephritis	Associate	40629603
Hematologic Neoplasms	Stimulate	39615603
Hepatitis C Chronic	Associate	28348420
Hirschsprung Disease	Associate	27889765
Idiopathic Hypogonadotropic Hypogonadism	Associate	33208564
Inflammation	Associate	39615603
Intellectual Disability	Associate	35769015
Landau Kleffner Syndrome	Associate	24828792
Leukemia Large Granular Lymphocytic	Associate	40629603
Lissencephaly	Associate	35769015
Liver Cirrhosis	Associate	28348420
Medulloblastoma	Associate	36849558
Melanoma	Associate	36497098
Mental Disorders	Associate	21603580, 30022058, 31848032, 34318684, 35769015, 37350760
Mohr Tranebjaerg syndrome	Associate	27094248
Mohr Tranebjaerg syndrome	Stimulate	32764530
Multiple Myeloma	Associate	26848618, 28210910
Neoplasm Metastasis	Associate	22393371, 24395782, 28210910, 36849558
Neoplasm Metastasis	Stimulate	29542868
Neoplasms	Associate	17277764, 22393371, 28210910, 29542868, 32764530, 34932815, 36497098
Nerve Degeneration	Associate	30022058, 31848032
Nervous System Diseases	Associate	19829293
Neuroblastoma	Associate	12087179
Neurodegenerative Diseases	Associate	16567613
Otosclerosis	Associate	19230858, 20882487, 29728750
Pancreatic Intraductal Neoplasms	Associate	18820670
Parkinson Disease	Inhibit	34356083
Personality Disorders	Associate	30285776
Plaque Amyloid	Associate	35466940
Post Acute COVID 19 Syndrome	Stimulate	39615603
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	33615686
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	22237106, 33615686
Prostatic Neoplasms	Associate	17277764
Psychotic Disorders	Inhibit	12087179
Retinal Vein Occlusion	Associate	36820679
Sarcoma Ewing	Associate	22868000
Sarcoma Kaposi	Associate	31857537
Schizophrenia	Inhibit	12087179, 19691043
Schizophrenia	Associate	17270400, 19922905, 21603580, 21863557, 21876540, 25476119, 30022058, 31540999, 31848032, 35769015
Seizures	Associate	28142128, 33453592
Spinocerebellar Ataxias	Associate	23236151
Spondylitis Ankylosing	Associate	32001840
Stomach Neoplasms	Inhibit	20847288
Tobacco Use Disorder	Associate	31294817
Tremor	Associate	35769015
Trigeminal Neuralgia	Associate	28142128
Urinary Bladder Neoplasms	Associate	38307969
Vertigo	Associate	28142128
Vision Disorders	Associate	28142128

RELN (reelin)