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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10371
Gene name Gene Name - the full gene name approved by the HGNC.	Semaphorin 3A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SEMA3A
Synonyms (NCBI Gene) Gene synonyms aliases	COLL1, HH16, Hsema-I, Hsema-III, SEMA1, SEMAD, SEMAIII, SEMAL, SemD, coll-1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	HH16
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q21.11
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138952094	G>A	Benign, likely-pathogenic	Missense variant, coding sequence variant
rs147436181	C>T	Not-provided, risk-factor, benign	Coding sequence variant, missense variant
rs1064793265	G>A	Likely-pathogenic	Stop gained, coding sequence variant

Show/Hide all(225)

miRTarBase ID	miRNA	Experiments
MIRT1334604	hsa-miR-141	CLIP-seq
MIRT1334605	hsa-miR-15a	CLIP-seq
MIRT1334606	hsa-miR-15b	CLIP-seq
MIRT1334607	hsa-miR-16	CLIP-seq
MIRT1334608	hsa-miR-186	CLIP-seq
MIRT1334609	hsa-miR-195	CLIP-seq
MIRT1334610	hsa-miR-200a	CLIP-seq
MIRT1334611	hsa-miR-3120-3p	CLIP-seq
MIRT1334612	hsa-miR-3133	CLIP-seq
MIRT1334613	hsa-miR-3154	CLIP-seq
MIRT1334614	hsa-miR-3179	CLIP-seq
MIRT1334615	hsa-miR-3682-3p	CLIP-seq
MIRT1334616	hsa-miR-3689d	CLIP-seq
MIRT1334617	hsa-miR-3921	CLIP-seq
MIRT1334618	hsa-miR-424	CLIP-seq
MIRT1334619	hsa-miR-4502	CLIP-seq
MIRT1334620	hsa-miR-4653-5p	CLIP-seq
MIRT1334621	hsa-miR-494	CLIP-seq
MIRT1334622	hsa-miR-497	CLIP-seq
MIRT2098977	hsa-miR-1266	CLIP-seq
MIRT2098978	hsa-miR-145	CLIP-seq
MIRT1334605	hsa-miR-15a	CLIP-seq
MIRT1334606	hsa-miR-15b	CLIP-seq
MIRT1334607	hsa-miR-16	CLIP-seq
MIRT1334609	hsa-miR-195	CLIP-seq
MIRT2098979	hsa-miR-3664-3p	CLIP-seq
MIRT1334618	hsa-miR-424	CLIP-seq
MIRT2098980	hsa-miR-4269	CLIP-seq
MIRT2098981	hsa-miR-4514	CLIP-seq
MIRT2098982	hsa-miR-4518	CLIP-seq
MIRT2098983	hsa-miR-4692	CLIP-seq
MIRT2098984	hsa-miR-4742-5p	CLIP-seq
MIRT1334622	hsa-miR-497	CLIP-seq
MIRT2323814	hsa-miR-203	CLIP-seq
MIRT2394200	hsa-miR-3171	CLIP-seq
MIRT2442610	hsa-miR-3658	CLIP-seq
MIRT2442611	hsa-miR-485-3p	CLIP-seq
MIRT2619604	hsa-miR-106a	CLIP-seq
MIRT2619605	hsa-miR-106b	CLIP-seq
MIRT2619606	hsa-miR-1183	CLIP-seq
MIRT2619607	hsa-miR-1207-3p	CLIP-seq
MIRT2619608	hsa-miR-1208	CLIP-seq
MIRT2619609	hsa-miR-1258	CLIP-seq
MIRT2619610	hsa-miR-1264	CLIP-seq
MIRT2098977	hsa-miR-1266	CLIP-seq
MIRT2619611	hsa-miR-129-5p	CLIP-seq
MIRT2619612	hsa-miR-132	CLIP-seq
MIRT1334604	hsa-miR-141	CLIP-seq
MIRT2619613	hsa-miR-144	CLIP-seq
MIRT2619614	hsa-miR-17	CLIP-seq
MIRT1334608	hsa-miR-186	CLIP-seq
MIRT2619615	hsa-miR-1909	CLIP-seq
MIRT2619616	hsa-miR-192	CLIP-seq
MIRT1334610	hsa-miR-200a	CLIP-seq
MIRT2619617	hsa-miR-208a	CLIP-seq
MIRT2619618	hsa-miR-208b	CLIP-seq
MIRT2619619	hsa-miR-20a	CLIP-seq
MIRT2619620	hsa-miR-20b	CLIP-seq
MIRT2619621	hsa-miR-2115	CLIP-seq
MIRT2619622	hsa-miR-2116	CLIP-seq
MIRT2619623	hsa-miR-2117	CLIP-seq
MIRT2619624	hsa-miR-212	CLIP-seq
MIRT2619625	hsa-miR-215	CLIP-seq
MIRT2619626	hsa-miR-216a	CLIP-seq
MIRT2619627	hsa-miR-2681	CLIP-seq
MIRT2619628	hsa-miR-3143	CLIP-seq
MIRT2619629	hsa-miR-3148	CLIP-seq
MIRT2619630	hsa-miR-3152-5p	CLIP-seq
MIRT2619631	hsa-miR-3194-3p	CLIP-seq
MIRT2619632	hsa-miR-323-5p	CLIP-seq
MIRT2619633	hsa-miR-3529	CLIP-seq
MIRT2619634	hsa-miR-3609	CLIP-seq
MIRT2619635	hsa-miR-3617	CLIP-seq
MIRT2619636	hsa-miR-3622a-3p	CLIP-seq
MIRT2619637	hsa-miR-3622b-3p	CLIP-seq
MIRT2619638	hsa-miR-3646	CLIP-seq
MIRT2619639	hsa-miR-3647-3p	CLIP-seq
MIRT2098979	hsa-miR-3664-3p	CLIP-seq
MIRT2619640	hsa-miR-3671	CLIP-seq
MIRT2619641	hsa-miR-371-5p	CLIP-seq
MIRT2619642	hsa-miR-371b-5p	CLIP-seq
MIRT2619643	hsa-miR-375	CLIP-seq
MIRT2619644	hsa-miR-379	CLIP-seq
MIRT2619645	hsa-miR-3977	CLIP-seq
MIRT2619646	hsa-miR-3978	CLIP-seq
MIRT2619647	hsa-miR-409-3p	CLIP-seq
MIRT2619648	hsa-miR-4261	CLIP-seq
MIRT2098980	hsa-miR-4269	CLIP-seq
MIRT2619649	hsa-miR-4273	CLIP-seq
MIRT2619650	hsa-miR-4420	CLIP-seq
MIRT2619651	hsa-miR-4424	CLIP-seq
MIRT2619652	hsa-miR-4427	CLIP-seq
MIRT2619653	hsa-miR-4451	CLIP-seq
MIRT2619654	hsa-miR-4474-5p	CLIP-seq
MIRT2619655	hsa-miR-4477a	CLIP-seq
MIRT2619656	hsa-miR-4495	CLIP-seq
MIRT2619657	hsa-miR-4496	CLIP-seq
MIRT2098981	hsa-miR-4514	CLIP-seq
MIRT2098982	hsa-miR-4518	CLIP-seq
MIRT2619658	hsa-miR-4649-3p	CLIP-seq
MIRT2619659	hsa-miR-4650-3p	CLIP-seq
MIRT2619660	hsa-miR-4663	CLIP-seq
MIRT2619661	hsa-miR-4677-3p	CLIP-seq
MIRT2619662	hsa-miR-4677-5p	CLIP-seq
MIRT2619663	hsa-miR-4679	CLIP-seq
MIRT2619664	hsa-miR-4680-3p	CLIP-seq
MIRT2619665	hsa-miR-4682	CLIP-seq
MIRT2098983	hsa-miR-4692	CLIP-seq
MIRT2619666	hsa-miR-4695-3p	CLIP-seq
MIRT2619667	hsa-miR-4728-3p	CLIP-seq
MIRT2098984	hsa-miR-4742-5p	CLIP-seq
MIRT2619668	hsa-miR-4760-5p	CLIP-seq
MIRT2619669	hsa-miR-4774-3p	CLIP-seq
MIRT2619670	hsa-miR-4796-3p	CLIP-seq
MIRT2619671	hsa-miR-486-5p	CLIP-seq
MIRT1334621	hsa-miR-494	CLIP-seq
MIRT2619672	hsa-miR-498	CLIP-seq
MIRT2619673	hsa-miR-499-5p	CLIP-seq
MIRT2619674	hsa-miR-509-3p	CLIP-seq
MIRT2619675	hsa-miR-519d	CLIP-seq
MIRT2619676	hsa-miR-539	CLIP-seq
MIRT2619677	hsa-miR-548ah	CLIP-seq
MIRT2619678	hsa-miR-548c-3p	CLIP-seq
MIRT2619679	hsa-miR-556-5p	CLIP-seq
MIRT2619680	hsa-miR-582-5p	CLIP-seq
MIRT2619681	hsa-miR-641	CLIP-seq
MIRT2619682	hsa-miR-642b	CLIP-seq
MIRT2619683	hsa-miR-649	CLIP-seq
MIRT2619684	hsa-miR-656	CLIP-seq
MIRT2619685	hsa-miR-876-3p	CLIP-seq
MIRT2619686	hsa-miR-93	CLIP-seq
MIRT2619604	hsa-miR-106a	CLIP-seq
MIRT2619605	hsa-miR-106b	CLIP-seq
MIRT2619606	hsa-miR-1183	CLIP-seq
MIRT2619607	hsa-miR-1207-3p	CLIP-seq
MIRT2619608	hsa-miR-1208	CLIP-seq
MIRT2619609	hsa-miR-1258	CLIP-seq
MIRT2619610	hsa-miR-1264	CLIP-seq
MIRT2098977	hsa-miR-1266	CLIP-seq
MIRT2619611	hsa-miR-129-5p	CLIP-seq
MIRT1334604	hsa-miR-141	CLIP-seq
MIRT2619614	hsa-miR-17	CLIP-seq
MIRT1334608	hsa-miR-186	CLIP-seq
MIRT2619615	hsa-miR-1909	CLIP-seq
MIRT2619616	hsa-miR-192	CLIP-seq
MIRT1334610	hsa-miR-200a	CLIP-seq
MIRT2619617	hsa-miR-208a	CLIP-seq
MIRT2619618	hsa-miR-208b	CLIP-seq
MIRT2619619	hsa-miR-20a	CLIP-seq
MIRT2619620	hsa-miR-20b	CLIP-seq
MIRT2619621	hsa-miR-2115	CLIP-seq
MIRT2619623	hsa-miR-2117	CLIP-seq
MIRT2619625	hsa-miR-215	CLIP-seq
MIRT2619626	hsa-miR-216a	CLIP-seq
MIRT2619627	hsa-miR-2681	CLIP-seq
MIRT2619628	hsa-miR-3143	CLIP-seq
MIRT2619629	hsa-miR-3148	CLIP-seq
MIRT2619630	hsa-miR-3152-5p	CLIP-seq
MIRT2619631	hsa-miR-3194-3p	CLIP-seq
MIRT2690354	hsa-miR-320a	CLIP-seq
MIRT2690355	hsa-miR-320b	CLIP-seq
MIRT2690356	hsa-miR-320c	CLIP-seq
MIRT2690357	hsa-miR-320d	CLIP-seq
MIRT2619632	hsa-miR-323-5p	CLIP-seq
MIRT2619633	hsa-miR-3529	CLIP-seq
MIRT2619634	hsa-miR-3609	CLIP-seq
MIRT2619635	hsa-miR-3617	CLIP-seq
MIRT2619636	hsa-miR-3622a-3p	CLIP-seq
MIRT2619637	hsa-miR-3622b-3p	CLIP-seq
MIRT2619638	hsa-miR-3646	CLIP-seq
MIRT2619639	hsa-miR-3647-3p	CLIP-seq
MIRT2098979	hsa-miR-3664-3p	CLIP-seq
MIRT2619640	hsa-miR-3671	CLIP-seq
MIRT2619641	hsa-miR-371-5p	CLIP-seq
MIRT2619642	hsa-miR-371b-5p	CLIP-seq
MIRT2619644	hsa-miR-379	CLIP-seq
MIRT2619646	hsa-miR-3978	CLIP-seq
MIRT2619648	hsa-miR-4261	CLIP-seq
MIRT2098980	hsa-miR-4269	CLIP-seq
MIRT2619649	hsa-miR-4273	CLIP-seq
MIRT2619650	hsa-miR-4420	CLIP-seq
MIRT2619651	hsa-miR-4424	CLIP-seq
MIRT2619652	hsa-miR-4427	CLIP-seq
MIRT2690358	hsa-miR-4429	CLIP-seq
MIRT2619653	hsa-miR-4451	CLIP-seq
MIRT2619654	hsa-miR-4474-5p	CLIP-seq
MIRT2619655	hsa-miR-4477a	CLIP-seq
MIRT2619656	hsa-miR-4495	CLIP-seq
MIRT2619657	hsa-miR-4496	CLIP-seq
MIRT2098981	hsa-miR-4514	CLIP-seq
MIRT2098982	hsa-miR-4518	CLIP-seq
MIRT2619658	hsa-miR-4649-3p	CLIP-seq
MIRT2619659	hsa-miR-4650-3p	CLIP-seq
MIRT2619660	hsa-miR-4663	CLIP-seq
MIRT2619661	hsa-miR-4677-3p	CLIP-seq
MIRT2619663	hsa-miR-4679	CLIP-seq
MIRT2619664	hsa-miR-4680-3p	CLIP-seq
MIRT2619665	hsa-miR-4682	CLIP-seq
MIRT2098983	hsa-miR-4692	CLIP-seq
MIRT2690359	hsa-miR-4694-3p	CLIP-seq
MIRT2619666	hsa-miR-4695-3p	CLIP-seq
MIRT2619667	hsa-miR-4728-3p	CLIP-seq
MIRT2098984	hsa-miR-4742-5p	CLIP-seq
MIRT2690360	hsa-miR-4753-3p	CLIP-seq
MIRT2619668	hsa-miR-4760-5p	CLIP-seq
MIRT2619669	hsa-miR-4774-3p	CLIP-seq
MIRT2619670	hsa-miR-4796-3p	CLIP-seq
MIRT2619671	hsa-miR-486-5p	CLIP-seq
MIRT1334621	hsa-miR-494	CLIP-seq
MIRT2619672	hsa-miR-498	CLIP-seq
MIRT2619673	hsa-miR-499-5p	CLIP-seq
MIRT2619674	hsa-miR-509-3p	CLIP-seq
MIRT2619675	hsa-miR-519d	CLIP-seq
MIRT2690361	hsa-miR-522	CLIP-seq
MIRT2619676	hsa-miR-539	CLIP-seq
MIRT2619677	hsa-miR-548ah	CLIP-seq
MIRT2619678	hsa-miR-548c-3p	CLIP-seq
MIRT2619679	hsa-miR-556-5p	CLIP-seq
MIRT2619680	hsa-miR-582-5p	CLIP-seq
MIRT2619681	hsa-miR-641	CLIP-seq
MIRT2619682	hsa-miR-642b	CLIP-seq
MIRT2619683	hsa-miR-649	CLIP-seq
MIRT2619685	hsa-miR-876-3p	CLIP-seq
MIRT2619686	hsa-miR-93	CLIP-seq
MIRT2690362	hsa-miR-944	CLIP-seq

Show/Hide all(52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001755	Process	Neural crest cell migration	IBA	21873635
GO:0001764	Process	Neuron migration	ISS
GO:0002027	Process	Regulation of heart rate	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0006915	Process	Apoptotic process	IEA
GO:0007411	Process	Axon guidance	IBA	21873635
GO:0007411	Process	Axon guidance	TAS	19909241
GO:0007413	Process	Axonal fasciculation	IEA
GO:0008045	Process	Motor neuron axon guidance	IBA	21873635
GO:0010633	Process	Negative regulation of epithelial cell migration	IEA
GO:0010977	Process	Negative regulation of neuron projection development	IMP	21593320
GO:0021612	Process	Facial nerve structural organization	IEA
GO:0021637	Process	Trigeminal nerve structural organization	IEA
GO:0021675	Process	Nerve development	ISS
GO:0021772	Process	Olfactory bulb development	IMP	22416012
GO:0021785	Process	Branchiomotor neuron axon guidance	IEA
GO:0021828	Process	Gonadotrophin-releasing hormone neuronal migration to the hypothalamus	IEA
GO:0030215	Function	Semaphorin receptor binding	IBA	21873635
GO:0030335	Process	Positive regulation of cell migration	IBA	21873635
GO:0030424	Component	Axon	IBA	21873635
GO:0030425	Component	Dendrite	IEA
GO:0036486	Process	Ventral trunk neural crest cell migration	IEA
GO:0038191	Function	Neuropilin binding	IBA	21873635
GO:0038191	Function	Neuropilin binding	ISS
GO:0045499	Function	Chemorepellent activity	IBA	21873635
GO:0045499	Function	Chemorepellent activity	TAS	19909241
GO:0046330	Process	Positive regulation of JNK cascade	TAS	22683681
GO:0048485	Process	Sympathetic nervous system development	TAS	19909241
GO:0048841	Process	Regulation of axon extension involved in axon guidance	IDA	18053124
GO:0048843	Process	Negative regulation of axon extension involved in axon guidance	IBA	21873635
GO:0048846	Process	Axon extension involved in axon guidance	ISS
GO:0048880	Process	Sensory system development	TAS	19909241
GO:0050919	Process	Negative chemotaxis	IBA	21873635
GO:0060385	Process	Axonogenesis involved in innervation	ISS
GO:0060666	Process	Dichotomous subdivision of terminal units involved in salivary gland branching	IEA
GO:0061549	Process	Sympathetic ganglion development	ISS
GO:0061551	Process	Trigeminal ganglion development	IEA
GO:0071526	Process	Semaphorin-plexin signaling pathway	IBA	21873635
GO:0071526	Process	Semaphorin-plexin signaling pathway	TAS	19909241
GO:0097490	Process	Sympathetic neuron projection extension	ISS
GO:0097491	Process	Sympathetic neuron projection guidance	ISS
GO:0150020	Process	Basal dendrite arborization	ISS	22683681
GO:0150020	Process	Basal dendrite arborization	TAS	22683681
GO:1901166	Process	Neural crest cell migration involved in autonomic nervous system development	ISS
GO:1902285	Process	Semaphorin-plexin signaling pathway involved in neuron projection guidance	ISS
GO:1902287	Process	Semaphorin-plexin signaling pathway involved in axon guidance	IEA
GO:1903045	Process	Neural crest cell migration involved in sympathetic nervous system development	IEA
GO:1903375	Process	Facioacoustic ganglion development	IEA
GO:2000020	Process	Positive regulation of male gonad development	IEA
GO:2001224	Process	Positive regulation of neuron migration	IBA	21873635

MIM	HGNC	e!Ensembl
603961	10723	ENSG00000075213

Protein

UniProt ID

Q14563

Protein name

Semaphorin-3A (Semaphorin III) (Sema III)

Protein function

Involved in the development of the olfactory system and in neuronal control of puberty. Induces the collapse and paralysis of neuronal growth cones. Could serve as a ligand that guides specific growth cones by a motility-inhibiting mechanism. Bi

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01403	Sema	59 → 496	Sema domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the dorsal root ganglia. {ECO:0000269|PubMed:28270793}.

Sequence

MGWLTRIVCLFWGVLLTARANYQNGKNNVPRLKLSYKEMLESNNVITFNGLANSSSYHTF
LLDEERSRLYVGAKDHIFSFDLVNIKDFQKIVWPVSYTRRDECKWAGKDILKECANFIKV
LKAYNQTHLYACGTGAFHPICTYIEIGHHPEDNIFKLENSHFENGRGKSPYDPKLLTASL
LIDGELYSGTAADFMGRDFAIFRTLGHHHPIRTEQHDSRWLNDPKFISAHLISESDNPED
DKVYFFFRENAIDGEHSGKATHARIGQICKNDFGGHRSLVNKWTTFLKARLICSVPGPNG
IDTHFDELQDVFLMNFKDPKNPVVYGVFTTSSNIFKGSAVCMYSMSDVRRVFLGPYAHRD
GPNYQWVPYQGRVPYPRPGTCPSKTFGGFDSTKDLPDDVITFARSHPAMYNPVFPMNNRP
IVIKTDVNYQFTQIVVDRVDAEDGQYDVMFIGTDVGTVLKVVSIPKETWYDLEEVLLEEM
TVFREPTAISAMELSTKQQQLYIGSTAGVAQLPLHRCDIYGKACAECCLARDPYCAWDGS
ACSRYFPTAKRRTRRQDIRNGDPLTHCSDLHHDNHHGHSPEERIIYGVENSSTFLECSPK
SQRALVYWQFQRRNEERKEEIRVDDHIIRTDQGLLLRSLQQKDSGNYLCHAVEHGFIQTL
LKVTLEVIDTEHLEELLHKDDDGDGSKTKEMSNSMTPSQKVWYRDFMQLINHPNLNTMDE
FCEQVWKRDRKQRRQRPGHTPGNSNKWKHLQENKKGRNRRTHEFERAPRSV

Sequence length

771

Interactions

View interactions

	KEGG		Reactome
	Axon guidance		Sema3A PAK dependent Axon repulsion SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion CRMPs in Sema3A signaling

Show/Hide Causal Diseases (14)

Disease term	Disease name	dbSNP ID	References
Causal
Azoospermia	Azoospermia	rs200969445, rs144567652, rs765353898
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)
Brugada syndrome	Brugada syndrome	rs104894718, rs397514252, rs397514446, rs137854613, rs137854601, rs397514449, rs137854604, rs28937318, rs137854611, rs137854612, rs137854615, rs137854618, rs137854620, rs72554632, rs121912776 View all (97 more)
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism	rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Hypogonadotropic hypogonadism with or without anosmia	HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA	rs387906271, rs587777834, rs74315419, rs554675432, rs28939719, rs104894701, rs104894702, rs104894703, rs137852659, rs137852661, rs137852662, rs137852663, rs137852512, rs137852513, rs137852514 View all (110 more)	25077900, 22927827, 22416012
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Mirror movements	Mirror movements disorder	rs199925463, rs34091239, rs606231254, rs1555429623, rs1567750186, rs1567749982, rs1567750187
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	17684500, 16402134, 12610647
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098 View all (1 more)

Show/Hide Unknown Diseases (12)

Disease term	Disease name	Evidence	References	Source
Unknown
Mental depression	Major Depressive Disorder		29071344	ClinVar
Ptosis	Blepharoptosis, Ptosis			ClinVar
Multiple Congenital Anomalies	multiple congenital anomalies/dysmorphic syndrome			GenCC
Kallmann Syndrome	Kallmann syndrome			GenCC
Brugada Syndrome	Brugada syndrome			GenCC
Hypogonadotropic Hypogonadism With Or Without Anosmia	hypogonadotropic hypogonadism 16 with or without anosmia			GenCC
Skeletal Dysplasia	skeletal dysplasia			GenCC
Attention Deficit Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder			GWAS
Ovarian cancer	Ovarian cancer	Conditional KD of IL6 in the OCCA xenograft model delays tumor growth		GWAS, CBGDA
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.		GWAS, CBGDA
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome			GWAS
Ischemic Stroke	Ischemic Stroke			GWAS

Show/Hide Text Mining Associations (70)

Disease Name	Relationship Type	References
Associations from Text Mining
Acute Kidney Injury	Associate	24756974
Alcoholism	Associate	29071344
Alzheimer Disease	Associate	33663605
Arrhythmias Cardiac	Associate	24963029
Arthritis	Associate	22697500
Arthritis Rheumatoid	Inhibit	23343469
Arthritis Rheumatoid	Associate	28775366
Arthritis Rheumatoid	Stimulate	30538782
Bone Diseases	Associate	25336945
Breast Neoplasms	Associate	18787945, 20655307, 29971782, 31929841, 38263416
Breast Neoplasms	Stimulate	25973043
Brugada Syndrome	Associate	24963029
Cartilage Diseases	Associate	36430655
Choroidal Neovascularization	Associate	33876574
Colorectal Neoplasms	Associate	36510452
Combined Pituitary Hormone Deficiency	Associate	32612575
Congenital anosmia	Associate	29255181
Crohn Disease	Inhibit	25978359
Death Sudden Cardiac	Associate	24963029
Dermatitis	Stimulate	33905439
Dermatitis Atopic	Associate	33905439, 36075451
Dermatomyositis	Inhibit	36012289
Diabetic Nephropathies	Associate	24756974
Diabetic Nephropathies	Stimulate	36583231
Endometriosis	Associate	26720585
Erectile Dysfunction	Associate	38111702
Exanthema	Associate	31394943
Glioma	Associate	35148403
Growth Disorders	Associate	32612575, 33369061
Heart Arrest	Associate	23593010
Heart Defects Congenital	Associate	33369061
HEM dysplasia	Associate	33369061
Hepatitis C Chronic	Stimulate	30592759
Hirschsprung Disease	Associate	21898659, 23372769
Hypertension	Associate	24756974
Hypogonadism	Associate	26199944, 32612575, 33369061, 35295983
Inflammation	Associate	25978359, 31394943, 39375631
Inflammatory Bowel Diseases	Associate	25978359
Kallmann Syndrome	Associate	29255181, 33369061
Kidney Diseases	Associate	22697500, 24756974, 31394943
Leukemia	Associate	18056484, 30378769
Leukemia Myeloid Acute	Stimulate	26043758
Leukemia Myeloid Acute	Associate	30378769
Lupus Erythematosus Systemic	Associate	22697500, 31394943
Lymphatic Metastasis	Inhibit	25197349
Macular Degeneration	Associate	33876574
Malformations of Cortical Development Group I	Stimulate	11331362
Mobius Syndrome	Associate	31033088
Monoclonal Gammopathy of Undetermined Significance	Associate	16684957
Multiple Myeloma	Associate	16684957
Musculoskeletal Abnormalities	Associate	33369061
Neoplasm Metastasis	Associate	22926477, 25197349, 25973043
Neoplasms	Associate	14656993, 24264315, 29740048, 36296971
Neoplasms	Inhibit	18787945, 25197349, 30378769
Neoplasms Mesothelial	Inhibit	14656993
Olfaction Disorders	Associate	29255181, 33369061
Oral Ulcer	Associate	31394943
Osteoarthritis	Associate	36430655
Prostatic Neoplasms	Associate	24264315, 29740048
Proteinuria	Stimulate	24756974
Prurigo	Associate	36075451
Pruritus	Associate	33905439, 36075451
Renal Insufficiency Chronic	Associate	24756974
Sick Sinus Syndrome	Associate	23593010
Small Fiber Neuropathy	Associate	36012289
Stomach Neoplasms	Inhibit	25197349
Tongue Neoplasms	Inhibit	22926477
Ventricular Dysfunction Left	Associate	39375631
Ventricular Fibrillation	Associate	23593010
Wounds and Injuries	Associate	36583231

SEMA3A (semaphorin 3A)