RELN (reelin)

Gene

• Entrez ID: 5649
• Gene name: Reelin
• Gene symbol: RELN
• Synonyms: ETL7, LIS2, PRO1598, RL
• 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

SNPs

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

miRNA

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

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

Gene ontology (GO)

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

Other IDs

• MIM: 600514
• HGNC: 9957
• e!Ensembl: 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

• 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

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Spinocerebellar ataxia
Human papillomavirus infection

Reactome:

Reelin signalling pathway

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
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, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	20610758
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1452048149, rs370498156, rs756691187, rs1557863430, rs1557863440, rs1557863546, rs769581210, rs202098093, rs1276388879, rs778792467, rs760059077, rs373783340, rs1557867853, rs772572695, rs753214391, rs749270162, rs548226228, rs1557870645, rs1557874046, rs749548928, rs754532606, rs1557901347, rs1557902023, rs1557909572, rs574335012, rs1557909821, rs1372713010, rs561369202, rs1476293577, rs1557910728, rs1557911386, rs375045125, rs998675361, rs1557916296, rs1557935477, rs866632178, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813	24781735, 28191889
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	20442744, 11317216, 11814262
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	30054458
Epilepsy	Epilepsy, Rolandic, EPILEPSY, FAMILIAL TEMPORAL LOBE, 7, Epilepsy, Familial Temporal Lobe 1	rs113994140, rs119454947, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs1805032, rs387906420, rs121917752, rs121918622, rs121434579, rs1581220270, rs281865564, rs387907313, rs397514564, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777363, rs587777364, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs1554169267, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	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	rs104893891, rs76262710, rs75075748, rs75996173, rs79014735, rs77316810, rs75076352, rs76087194, rs76534745, rs76764689, rs76449634, rs78098482, rs79661516, rs104894389, rs769735757, rs267606780, rs1568823467, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869	27889765
Norman-roberts syndrome	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, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	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, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Unknown
Disease name	Disease term	dbSNP ID	References
Bilateral convulsive seizures	Generalized tonic-clonic seizures with focal onset
Bipolar disorder	Bipolar Disorder, Depression, Bipolar		21863557, 11126396, 20849864, 15560956, 25364290, 22981949, 14708030, 21814183, 14708030, 11126396, 15560956
Cerebellar hypoplasia	Cerebellar Hypoplasia
Dyscognitive seizures	Complex partial seizure with impairment of consciousness
Dysmorphic features	Dysmorphic features		16958033, 10973257, 11748497, 26046367, 25621899, 24267886, 17955477, 17431900, 25648840
Hodgkin disease	Hodgkin Disease		27889765
Huntington disease	Huntington Disease	rs768047421	27889765
Involutional depression	Involutional Depression		11126396
Involutional paraphrenia	Involutional paraphrenia		11126396
Manic disorder	Manic, Manic Disorder		11126396, 15560956, 14708030, 14708030, 15560956, 11126396
Melancholia	Melancholia		14708030
Mental depression	Mental Depression, Endogenous depression, Depressive disorder, Unipolar Depression, Depressive Syndrome, Depression, Neurotic, Major Depressive Disorder	rs587778876, rs587778877	23608736, 20849864, 14708030, 21814183, 14708030, 21814183, 20849864, 23608736, 14708030, 14708030, 23608736, 22981949, 23608736, 11126396, 22981949
Mood disorder	Mood Disorders		16556465
Otosclerosis	Otosclerosis		19230858
Psychosis	Psychosis, Involutional		11126396
Senile dementia	Presenile dementia, Acute Confusional Senile Dementia		20610758
Sjogren`s syndrome	Sjogren`s Syndrome		28076899