PLXNA2 (plexin A2)

Gene

• Entrez ID: 5362
• Gene name: Plexin A2
• Gene symbol: PLXNA2
• Synonyms (NCBI Gene): OCT, PLXN2
• Chromosome: 1
• Chromosome location: 1q32.2
• Summary: This gene encodes a member of the plexin-A family of semaphorin co-receptors. Semaphorins are a large family of secreted or membrane-bound proteins that mediate repulsive effects on axon pathfinding during nervous system development. A subset of semaphori

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1553277591	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023176	hsa-miR-124-3p	Microarray	18668037
MIRT030349	hsa-miR-26b-5p	Microarray	19088304
MIRT722530	hsa-miR-4717-3p	HITS-CLIP	19536157
MIRT722529	hsa-miR-6892-3p	HITS-CLIP	19536157
MIRT722528	hsa-miR-939-3p	HITS-CLIP	19536157
MIRT722527	hsa-miR-6852-5p	HITS-CLIP	19536157
MIRT722526	hsa-miR-6742-3p	HITS-CLIP	19536157
MIRT722525	hsa-miR-3653-5p	HITS-CLIP	19536157
MIRT722524	hsa-miR-1976	HITS-CLIP	19536157
MIRT722523	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT722522	hsa-miR-204-3p	HITS-CLIP	19536157
MIRT722521	hsa-miR-4646-5p	HITS-CLIP	19536157
MIRT722520	hsa-miR-6716-5p	HITS-CLIP	19536157
MIRT722519	hsa-miR-1343-3p	HITS-CLIP	19536157
MIRT722518	hsa-miR-6783-3p	HITS-CLIP	19536157
MIRT535119	hsa-miR-103b	PAR-CLIP	22012620
MIRT535117	hsa-miR-338-3p	PAR-CLIP	22012620
MIRT535115	hsa-miR-3663-5p	PAR-CLIP	22012620
MIRT535116	hsa-miR-6131	PAR-CLIP	22012620
MIRT535114	hsa-miR-601	PAR-CLIP	22012620
MIRT535113	hsa-miR-7977	PAR-CLIP	22012620
MIRT443379	hsa-miR-5197-3p	PAR-CLIP	22100165
MIRT443378	hsa-miR-6758-5p	PAR-CLIP	22100165
MIRT443377	hsa-miR-6856-5p	PAR-CLIP	22100165
MIRT443376	hsa-miR-6760-5p	PAR-CLIP	22100165
MIRT443374	hsa-miR-4270	PAR-CLIP	22100165
MIRT443375	hsa-miR-4441	PAR-CLIP	22100165
MIRT443373	hsa-miR-6754-5p	PAR-CLIP	22100165
MIRT443372	hsa-miR-1253	PAR-CLIP	22100165
MIRT443371	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT443370	hsa-miR-4434	PAR-CLIP	22100165
MIRT443369	hsa-miR-4516	PAR-CLIP	22100165
MIRT443368	hsa-miR-5703	PAR-CLIP	22100165
MIRT443367	hsa-miR-6878-5p	PAR-CLIP	22100165
MIRT443366	hsa-miR-3202	PAR-CLIP	22100165
MIRT722530	hsa-miR-4717-3p	HITS-CLIP	19536157
MIRT722529	hsa-miR-6892-3p	HITS-CLIP	19536157
MIRT722528	hsa-miR-939-3p	HITS-CLIP	19536157
MIRT722527	hsa-miR-6852-5p	HITS-CLIP	19536157
MIRT722526	hsa-miR-6742-3p	HITS-CLIP	19536157
MIRT722525	hsa-miR-3653-5p	HITS-CLIP	19536157
MIRT722524	hsa-miR-1976	HITS-CLIP	19536157
MIRT722523	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT722522	hsa-miR-204-3p	HITS-CLIP	19536157
MIRT722521	hsa-miR-4646-5p	HITS-CLIP	19536157
MIRT722520	hsa-miR-6716-5p	HITS-CLIP	19536157
MIRT722519	hsa-miR-1343-3p	HITS-CLIP	19536157
MIRT722518	hsa-miR-6783-3p	HITS-CLIP	19536157
MIRT535119	hsa-miR-103b	PAR-CLIP	22012620
MIRT535117	hsa-miR-338-3p	PAR-CLIP	22012620
MIRT535115	hsa-miR-3663-5p	PAR-CLIP	22012620
MIRT535116	hsa-miR-6131	PAR-CLIP	22012620
MIRT535114	hsa-miR-601	PAR-CLIP	22012620
MIRT535113	hsa-miR-7977	PAR-CLIP	22012620
MIRT443379	hsa-miR-5197-3p	PAR-CLIP	22100165
MIRT443378	hsa-miR-6758-5p	PAR-CLIP	22100165
MIRT443377	hsa-miR-6856-5p	PAR-CLIP	22100165
MIRT443376	hsa-miR-6760-5p	PAR-CLIP	22100165
MIRT443374	hsa-miR-4270	PAR-CLIP	22100165
MIRT443375	hsa-miR-4441	PAR-CLIP	22100165
MIRT443373	hsa-miR-6754-5p	PAR-CLIP	22100165
MIRT443372	hsa-miR-1253	PAR-CLIP	22100165
MIRT443371	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT443370	hsa-miR-4434	PAR-CLIP	22100165
MIRT443369	hsa-miR-4516	PAR-CLIP	22100165
MIRT443368	hsa-miR-5703	PAR-CLIP	22100165
MIRT443367	hsa-miR-6878-5p	PAR-CLIP	22100165
MIRT443366	hsa-miR-3202	PAR-CLIP	22100165
MIRT1243605	hsa-miR-1207-3p	CLIP-seq
MIRT1243606	hsa-miR-1252	CLIP-seq
MIRT1243607	hsa-miR-1254	CLIP-seq
MIRT1243608	hsa-miR-15a	CLIP-seq
MIRT1243609	hsa-miR-15b	CLIP-seq
MIRT1243610	hsa-miR-16	CLIP-seq
MIRT1243611	hsa-miR-1825	CLIP-seq
MIRT1243612	hsa-miR-1827	CLIP-seq
MIRT1243613	hsa-miR-1909	CLIP-seq
MIRT1243614	hsa-miR-195	CLIP-seq
MIRT1243615	hsa-miR-199a-5p	CLIP-seq
MIRT1243616	hsa-miR-199b-5p	CLIP-seq
MIRT1243617	hsa-miR-204	CLIP-seq
MIRT1243618	hsa-miR-211	CLIP-seq
MIRT1243619	hsa-miR-214	CLIP-seq
MIRT1243620	hsa-miR-2355-3p	CLIP-seq
MIRT1243621	hsa-miR-299-3p	CLIP-seq
MIRT1243622	hsa-miR-3116	CLIP-seq
MIRT1243623	hsa-miR-3159	CLIP-seq
MIRT1243624	hsa-miR-33a	CLIP-seq
MIRT1243625	hsa-miR-33b	CLIP-seq
MIRT1243626	hsa-miR-3611	CLIP-seq
MIRT1243627	hsa-miR-3612	CLIP-seq
MIRT1243628	hsa-miR-3619-5p	CLIP-seq
MIRT1243629	hsa-miR-3689a-3p	CLIP-seq
MIRT1243630	hsa-miR-3689c	CLIP-seq
MIRT1243631	hsa-miR-3690	CLIP-seq
MIRT1243632	hsa-miR-3911	CLIP-seq
MIRT1243633	hsa-miR-3919	CLIP-seq
MIRT1243634	hsa-miR-3928	CLIP-seq
MIRT1243635	hsa-miR-3974	CLIP-seq
MIRT1243636	hsa-miR-424	CLIP-seq
MIRT1243637	hsa-miR-4267	CLIP-seq
MIRT1243638	hsa-miR-4326	CLIP-seq
MIRT1243639	hsa-miR-4436b-3p	CLIP-seq
MIRT1243640	hsa-miR-4436b-5p	CLIP-seq
MIRT1243641	hsa-miR-4446-5p	CLIP-seq
MIRT1243642	hsa-miR-4473	CLIP-seq
MIRT1243643	hsa-miR-4476	CLIP-seq
MIRT1243644	hsa-miR-4477b	CLIP-seq
MIRT1243645	hsa-miR-4539	CLIP-seq
MIRT1243646	hsa-miR-4638-3p	CLIP-seq
MIRT1243647	hsa-miR-4640-5p	CLIP-seq
MIRT1243648	hsa-miR-4648	CLIP-seq
MIRT1243649	hsa-miR-4654	CLIP-seq
MIRT1243650	hsa-miR-4671-3p	CLIP-seq
MIRT1243651	hsa-miR-4677-3p	CLIP-seq
MIRT1243652	hsa-miR-4679	CLIP-seq
MIRT1243653	hsa-miR-4698	CLIP-seq
MIRT1243654	hsa-miR-4726-5p	CLIP-seq
MIRT1243655	hsa-miR-4728-5p	CLIP-seq
MIRT1243656	hsa-miR-4755-5p	CLIP-seq
MIRT1243657	hsa-miR-4760-3p	CLIP-seq
MIRT1243658	hsa-miR-4769-5p	CLIP-seq
MIRT1243659	hsa-miR-4786-3p	CLIP-seq
MIRT1243660	hsa-miR-4793-5p	CLIP-seq
MIRT1243661	hsa-miR-497	CLIP-seq
MIRT1243662	hsa-miR-5095	CLIP-seq
MIRT1243663	hsa-miR-541	CLIP-seq
MIRT1243664	hsa-miR-548ag	CLIP-seq
MIRT1243665	hsa-miR-548ai	CLIP-seq
MIRT1243666	hsa-miR-552	CLIP-seq
MIRT1243667	hsa-miR-579	CLIP-seq
MIRT1243668	hsa-miR-623	CLIP-seq
MIRT1243669	hsa-miR-650	CLIP-seq
MIRT1243670	hsa-miR-651	CLIP-seq
MIRT1243671	hsa-miR-653	CLIP-seq
MIRT1243672	hsa-miR-654-5p	CLIP-seq
MIRT1243673	hsa-miR-676	CLIP-seq
MIRT1243674	hsa-miR-761	CLIP-seq
MIRT1243675	hsa-miR-765	CLIP-seq
MIRT2071999	hsa-miR-1273e	CLIP-seq
MIRT2072000	hsa-miR-1297	CLIP-seq
MIRT2072001	hsa-miR-137	CLIP-seq
MIRT1243608	hsa-miR-15a	CLIP-seq
MIRT1243609	hsa-miR-15b	CLIP-seq
MIRT1243610	hsa-miR-16	CLIP-seq
MIRT2072002	hsa-miR-185	CLIP-seq
MIRT1243614	hsa-miR-195	CLIP-seq
MIRT2072003	hsa-miR-203	CLIP-seq
MIRT2072004	hsa-miR-2355-5p	CLIP-seq
MIRT2072005	hsa-miR-26a	CLIP-seq
MIRT2072006	hsa-miR-26b	CLIP-seq
MIRT2072007	hsa-miR-298	CLIP-seq
MIRT2072008	hsa-miR-3614-5p	CLIP-seq
MIRT2072009	hsa-miR-3679-3p	CLIP-seq
MIRT1243636	hsa-miR-424	CLIP-seq
MIRT2072010	hsa-miR-4306	CLIP-seq
MIRT2072011	hsa-miR-4327	CLIP-seq
MIRT2072012	hsa-miR-4465	CLIP-seq
MIRT2072013	hsa-miR-4480	CLIP-seq
MIRT2072014	hsa-miR-4644	CLIP-seq
MIRT2072015	hsa-miR-4680-5p	CLIP-seq
MIRT2072016	hsa-miR-4718	CLIP-seq
MIRT1243661	hsa-miR-497	CLIP-seq
MIRT2299023	hsa-let-7a	CLIP-seq
MIRT2299024	hsa-let-7b	CLIP-seq
MIRT2299025	hsa-let-7c	CLIP-seq
MIRT2299026	hsa-let-7d	CLIP-seq
MIRT2299027	hsa-let-7e	CLIP-seq
MIRT2299028	hsa-let-7f	CLIP-seq
MIRT2299029	hsa-let-7g	CLIP-seq
MIRT2299030	hsa-let-7i	CLIP-seq
MIRT1243605	hsa-miR-1207-3p	CLIP-seq
MIRT2299031	hsa-miR-1233	CLIP-seq
MIRT2299032	hsa-miR-1236	CLIP-seq
MIRT1243606	hsa-miR-1252	CLIP-seq
MIRT1243607	hsa-miR-1254	CLIP-seq
MIRT1243608	hsa-miR-15a	CLIP-seq
MIRT1243609	hsa-miR-15b	CLIP-seq
MIRT1243610	hsa-miR-16	CLIP-seq
MIRT1243611	hsa-miR-1825	CLIP-seq
MIRT1243612	hsa-miR-1827	CLIP-seq
MIRT2072002	hsa-miR-185	CLIP-seq
MIRT2299033	hsa-miR-1915	CLIP-seq
MIRT1243614	hsa-miR-195	CLIP-seq
MIRT1243615	hsa-miR-199a-5p	CLIP-seq
MIRT1243616	hsa-miR-199b-5p	CLIP-seq
MIRT1243619	hsa-miR-214	CLIP-seq
MIRT1243620	hsa-miR-2355-3p	CLIP-seq
MIRT2072004	hsa-miR-2355-5p	CLIP-seq
MIRT2299034	hsa-miR-2392	CLIP-seq
MIRT2072007	hsa-miR-298	CLIP-seq
MIRT2299035	hsa-miR-299-5p	CLIP-seq
MIRT1243622	hsa-miR-3116	CLIP-seq
MIRT2299036	hsa-miR-3173-5p	CLIP-seq
MIRT1243628	hsa-miR-3619-5p	CLIP-seq
MIRT2299037	hsa-miR-3622a-3p	CLIP-seq
MIRT2299038	hsa-miR-3622b-3p	CLIP-seq
MIRT2299039	hsa-miR-3667-3p	CLIP-seq
MIRT2299040	hsa-miR-3678-3p	CLIP-seq
MIRT2072009	hsa-miR-3679-3p	CLIP-seq
MIRT2299041	hsa-miR-3689d	CLIP-seq
MIRT2299042	hsa-miR-370	CLIP-seq
MIRT2299043	hsa-miR-3909	CLIP-seq
MIRT2299044	hsa-miR-3925-3p	CLIP-seq
MIRT2299045	hsa-miR-3978	CLIP-seq
MIRT1243636	hsa-miR-424	CLIP-seq
MIRT2072010	hsa-miR-4306	CLIP-seq
MIRT2299046	hsa-miR-432	CLIP-seq
MIRT2072011	hsa-miR-4327	CLIP-seq
MIRT2299047	hsa-miR-4329	CLIP-seq
MIRT2299048	hsa-miR-4422	CLIP-seq
MIRT1243640	hsa-miR-4436b-5p	CLIP-seq
MIRT2299049	hsa-miR-4443	CLIP-seq
MIRT1243641	hsa-miR-4446-5p	CLIP-seq
MIRT2299050	hsa-miR-4458	CLIP-seq
MIRT2299051	hsa-miR-4500	CLIP-seq
MIRT1243647	hsa-miR-4640-5p	CLIP-seq
MIRT2072014	hsa-miR-4644	CLIP-seq
MIRT2299052	hsa-miR-4699-3p	CLIP-seq
MIRT1243654	hsa-miR-4726-5p	CLIP-seq
MIRT2299053	hsa-miR-4773	CLIP-seq
MIRT1243661	hsa-miR-497	CLIP-seq
MIRT2299054	hsa-miR-508-5p	CLIP-seq
MIRT2299055	hsa-miR-512-3p	CLIP-seq
MIRT2299056	hsa-miR-550a	CLIP-seq
MIRT2299057	hsa-miR-564	CLIP-seq
MIRT2299058	hsa-miR-615-5p	CLIP-seq
MIRT2299059	hsa-miR-661	CLIP-seq
MIRT1243673	hsa-miR-676	CLIP-seq
MIRT1243674	hsa-miR-761	CLIP-seq
MIRT2299060	hsa-miR-890	CLIP-seq
MIRT2299061	hsa-miR-922	CLIP-seq
MIRT2299062	hsa-miR-98	CLIP-seq
MIRT2299032	hsa-miR-1236	CLIP-seq
MIRT2299033	hsa-miR-1915	CLIP-seq
MIRT2392713	hsa-miR-3064-5p	CLIP-seq
MIRT2072008	hsa-miR-3614-5p	CLIP-seq
MIRT2392714	hsa-miR-423-3p	CLIP-seq
MIRT2299048	hsa-miR-4422	CLIP-seq
MIRT2299049	hsa-miR-4443	CLIP-seq
MIRT2392715	hsa-miR-4487	CLIP-seq
MIRT2392716	hsa-miR-4633-3p	CLIP-seq
MIRT2392717	hsa-miR-4726-3p	CLIP-seq
MIRT2392718	hsa-miR-604	CLIP-seq
MIRT2392719	hsa-miR-642a	CLIP-seq
MIRT2392720	hsa-miR-647	CLIP-seq
MIRT2299060	hsa-miR-890	CLIP-seq
MIRT2595949	hsa-miR-4713-5p	CLIP-seq
MIRT2595950	hsa-miR-548b-3p	CLIP-seq
MIRT2595949	hsa-miR-4713-5p	CLIP-seq
MIRT2595950	hsa-miR-548b-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001756	Process	Somitogenesis	IEA
GO:0002116	Component	Semaphorin receptor complex	IBA
GO:0002116	Component	Semaphorin receptor complex	TAS	19909241
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	12372285
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007416	Process	Synapse assembly	IBA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0016020	Component	Membrane	IEA
GO:0017154	Function	Semaphorin receptor activity	IBA
GO:0017154	Function	Semaphorin receptor activity	IEA
GO:0017154	Function	Semaphorin receptor activity	ISS
GO:0021915	Process	Neural tube development	IEA
GO:0021935	Process	Cerebellar granule cell precursor tangential migration	IEA
GO:0030334	Process	Regulation of cell migration	IBA
GO:0030334	Process	Regulation of cell migration	IEA
GO:0030334	Process	Regulation of cell migration	ISS
GO:0035295	Process	Tube development	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0051642	Process	Centrosome localization	IEA
GO:0060037	Process	Pharyngeal system development	IEA
GO:0060174	Process	Limb bud formation	IEA
GO:0071526	Process	Semaphorin-plexin signaling pathway	IBA
GO:0071526	Process	Semaphorin-plexin signaling pathway	IEA
GO:0071526	Process	Semaphorin-plexin signaling pathway	ISS

Other IDs

• MIM: 601054
• HGNC: 9100
• e!Ensembl: ENSG00000076356

Protein

• UniProt ID: O75051
• Protein name: Plexin-A2 (Semaphorin receptor OCT)
• Protein function: Coreceptor for SEMA3A and SEMA6A. Necessary for signaling by SEMA6A and class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration. Class 3 semaphorins bind to a complex c
• PDB: 3Q3J
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01403	Sema	52 → 489	Sema domain	Family
  PF01437	PSI	510 → 560	Plexin repeat	Family
  PF17960	TIG_plexin	565 → 654	TIG domain	Domain
  PF18020	TIG_2	708 → 802	TIG domain found in plexin	Domain
  PF01437	PSI	803 → 856	Plexin repeat	Family
  PF01833	TIG	858 → 951	IPT/TIG domain	Domain
  PF01833	TIG	954 → 1037	IPT/TIG domain	Domain
  PF01833	TIG	1041 → 1139	IPT/TIG domain	Domain
  PF01833	TIG	1143 → 1228	IPT/TIG domain	Domain
  PF08337	Plexin_cytopl	1311 → 1864	Plexin cytoplasmic RasGAP domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in fetal brain. {ECO:0000269|PubMed:8570614}.
• Sequence:

  MEQRRPWPRALEVDSRSVVLLSVVWVLLAPPAAGMPQFSTFHSENRDWTFNHLTVHQGTG
  AVYVGAINRVYKLTGNLTIQVAHKTGPEEDNKSCYPPLIVQPCSEVLTLTNNVNKLLIID
  YSENRLLACGSLYQGVCKLLRLDDLFILVEPSHKKEHYLSSVNKTGTMYGVIVRSEGEDG
  KLFIGTAVDGKQDYFPTLSSRKLPRDPESSAMLDYELHSDFVSSLIKIPSDTLALVSHFD
  IFYIYGFASGGFVYFLTVQPETPEGVAINSAGDLFYTSRIVRLCKDDPKFHSYVSLPFGC
  TRAGVEYRLLQAAYLAKPGDSLAQAFNITSQDDVLFAIFSKGQKQYHHPPDDSALCAFPI
  RAINLQIKERLQSCYQGEGNLELNWLLGKDVQCTKAPVPIDDNFCGLDINQPLGGSTPVE
  GLTLYTTSRDRMTSVASYVYNGYSVVFVGTKSGKLKKIRADGPPHGGVQYEMVSVLKDGS
  PILRDMAFSIDQRYLYVMSERQVTRVPVESCEQYTTCGECLSSGDPHCGWCALHNMCSRR
  DKCQQAWEPNRFAASISQCVSLAVHPSSISVSEHSRLLSLVVSDAPDLSAGIACAFGNLT
  EVEGQVSGSQVICISPGPKDVPVIPLDQDWFGLELQLRSKETGKIFVSTEFKFYNCSAHQ
  LCLSCVNSAFRCHWCKYRNLCTHDPTTCSFQEGRINISEDCPQLVPTEEILIPVGEVKPI
  TLKARNLPQPQSGQRGYECVLNIQGAIHRVPALRFNSSSVQCQNSSYQYDGMDISNLAVD
  FAVVWNGNFIIDNPQDLKVHLYKCAAQRESCGLCLKADRKFECGWCSGERRCTLHQHCTS
  PSSPWLDWSSHNVKCSNPQITEILTVSGPPEGGTRVTIHGVNLGLDFSEIAHHVQVAGVP
  CTPLPGEYIIAEQIVCEMGHALVGTTSGPVRLCIGECKPEFMTKSHQQYTFVNPSVLSLN
  PIRGPESGGTMVTITGHYLGAGSSVAVYLGNQTCEFYGRSMSEIVCVSPPSSNGLGPVPV
  SVSVDRAHVDSNLQFEYIDDPRVQRIEPEWSIASGHTPLTITGFNLDVIQEPRIRVKFNG
  KESVNVCKVVNTTTLTCLAPSLTTDYRPGLDTVERPDEFGFVFNNVQSLLIYNDTKFIYY
  PNPTFELLSPTGVLDQKPGSPIILKGKNLCPPASGGAKLNYTVLIGETPCAVTVSETQLL
  CEPPNLTGQHKVMVHVGGMVFSPGSVSVISDSLLTLPAIVSIAAGGSLLLIIVIIVLIAY
  KRKSRENDLTLKRLQMQMDNLESRVALECKEAFAELQTDINELTSDLDRSGIPYLDYRTY
  AMRVLFPGIEDHPVLRELEVQGNGQQHVEKALKLFAQLINNKVFLLTFIRTLELQRSFSM
  RDRGNVASLIMTGLQGRLEYATDVLKQLLSDLIDKNLENKNHPKLLLRRTESVAEKMLTN
  WFAFLLHKFLKECAGEPLFMLYCAIKQQMEKGPIDAITGEARYSLSEDKLIRQQIEYKTL
  ILNCVNPDNENSPEIPVKVLNCDTITQVKEKILDAVYKNVPYSQRPRAVDMDLEWRQGRI
  ARVVLQDEDITTKIEGDWKRLNTLMHYQVSDRSVVALVPKQTSSYNIPASASISRTSISR
  YDSSFRYTGSPDSLRSRAPMITPDLESGVKVWHLVKNHDHGDQKEGDRGSKMVSEIYLTR
  LLATKGTLQKFVDDLFETLFSTVHRGSALPLAIKYMFDFLDEQADRHSIHDTDVRHTWKS
  NCLPLRFWVNVIKNPQFVFDIHKGSITDACLSVVAQTFMDSCSTSEHRLGKDSPSNKLLY
  AKDIPSYKSWVERYYADIAKLPAISDQDMNAYLAEQSRLHAVEFNMLSALNEIYSYVSKY
  SEELIGALEQDEQARRQRLAYKVEQLINAMSIES

• Sequence length: 1894

Pathways

KEGG:

Axon guidance

Reactome:

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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
atypical cerebral palsy	Likely pathogenic	rs1553277591	RCV000655966	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ 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	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOCUTANEOUS LYMPH NODE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PLXNA2-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ 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
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ 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
VERTEBRAL COLUMN DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achromatopsia	Achromatopsia	BEFREE	24664743, 27479814		★☆☆☆☆ Found in Text Mining only
Acne	Acne	BEFREE	28556980		★☆☆☆☆ Found in Text Mining only
Acne Vulgaris	Acne	BEFREE	28556980		★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	28502083		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	27973332, 30372758, 30946013		★☆☆☆☆ Found in Text Mining only
Adrenomyeloneuropathy	Adrenomyeloneuropathy	BEFREE	29844084, 30025133		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	22003107, 27625163, 28474129, 28582276, 28658477, 28728188, 28821236, 28834946, 28983695, 28994139, 29049720, 29103793, 29567794, 29746403, 29879284, 29927468, 29982897, 30140905, 30352604, 30911094, 30971814, 31281056, 31708275, 31833436		★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	BEFREE	24845642		★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	BEFREE	24526317		★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	30398625		★☆☆☆☆ Found in Text Mining only
Alstrom Syndrome	Alstrom Syndrome	BEFREE	28112973		★☆☆☆☆ Found in Text Mining only
Alstrom Syndrome	Alstrom syndrome	Pubtator	28112973	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29713825		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	28860042		★☆☆☆☆ Found in Text Mining only
Angioid Streaks	Angioid streaks	BEFREE	30250237		★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	27899368, 28499992		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	17339520		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	17339520		★☆☆☆☆ Found in Text Mining only
Apraxia, Developmental Verbal	Apraxia	BEFREE	30464189		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28217098, 31786535		★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	BEFREE	31650512		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28217098, 31786535		★☆☆☆☆ Found in Text Mining only
Atrophoderma maculatum	Anetoderma	BEFREE	28972030, 30301555, 31718842, 31788714		★☆☆☆☆ Found in Text Mining only
Autosomal dominant vitreoretinochoroidopathy	Vitreoretinochoroidopathy	BEFREE	26771239		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	16186795		★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	24299031		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	21925246		★☆☆☆☆ Found in Text Mining only
Bietti Crystalline Dystrophy	Bietti crystalline corneoretinal dystrophy	Pubtator	35791149	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	30382239		★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	29111873		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	28327613		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21925246		★☆☆☆☆ Found in Text Mining only
CADASIL Syndrome	CADASIL Syndrome	BEFREE	28469098		★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	12841847	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	30276468, 30392762, 30678658, 31210009		★☆☆☆☆ Found in Text Mining only
Central areolar choroidal sclerosis	Central Areolar Choroidal Sclerosis	BEFREE	22003107		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	29111873		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27600882		★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	BEFREE	21067487, 31135252		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10023342		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31586168		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29133757		★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	BEFREE	29671946		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	31354611		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	27339063		★☆☆☆☆ Found in Text Mining only
Deficiency of butyryl-CoA dehydrogenase	Deficiency Of Butyryl-CoA Dehydrogenase	BEFREE	30878439		★☆☆☆☆ Found in Text Mining only
Deficiency of glucose-6-phosphate dehydrogenase	Deficiency Of Glucose-6-Phosphate Dehydrogenase	BEFREE	28810042		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29398701, 31139918		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	29733465		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28566760, 29866787		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28566760, 29655280, 29740913, 29866787, 31009594, 31281849		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29850607, 30327872, 31273312		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23018631, 28208170		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	26273665, 27852582, 28098726, 28134963, 28208170, 28257130, 28403072, 28761762, 29340651, 29713816, 29801151, 29850607, 30092018, 30121204, 30159113, 30357402, 30533048, 30650408, 31209251, 31273312, 31315159, 31358386, 31401734, 31832768		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	31266775, 31489489		★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	28195603, 28314832, 29238852, 29651692, 30121646, 30222823, 30703442		★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	BEFREE	22003107, 25014365, 26998717, 27817914, 28057649, 28658477, 28983695, 30154521, 31281056, 31609840		★☆☆☆☆ Found in Text Mining only
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency	Dopa-responsive dystonia	BEFREE	31775139		★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	BEFREE	27646327, 27900480, 28353013, 28445077, 28935399, 28942521, 29982897, 30218173, 30265684, 30353744, 30467423, 30557531, 31134422		★☆☆☆☆ Found in Text Mining only
Exfoliation Syndrome	Exfoliation Syndrome	BEFREE	30276468, 30721926		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	26780119, 28057649, 28731053, 29059257, 29224926, 29600987, 29772040, 29879284, 29929478, 30300393, 30382236, 30467129, 30679743, 31725526		★☆☆☆☆ Found in Text Mining only
Exudative retinopathy	Exudative retinopathy	BEFREE	29528979		★☆☆☆☆ Found in Text Mining only
Familial Exudative Vitreoretinopathy	Exudative Vitreoretinopathy	BEFREE	26299697		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	28438190		★☆☆☆☆ Found in Text Mining only
Frontal fibrosing alopecia	Frontal Fibrosing Alopecia	BEFREE	28859221		★☆☆☆☆ Found in Text Mining only
Full thickness hole of macula lutea	Full Thickness Hole Of Macula Lutea	BEFREE	28060396		★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	BEFREE	21310912, 22003107, 26998717, 28834947, 29049720, 29558533, 30131381, 30572343, 30794627, 31589762, 31600644		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	27796669, 27836484, 28543741, 28832670, 28934255, 28984709, 29027590, 29174012, 29462016, 29486903, 29544962, 29850196, 29852029, 29858182, 29860466, 29887333, 29944673, 29982897, 30144950, 30160048, 30240137, 30322450, 30858023, 30920599, 31158045, 31409906, 31648802, 31649346, 31764284, 31791664		★☆☆☆☆ Found in Text Mining only
Glaucoma of childhood	Glaucoma	BEFREE	26795877		★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	BEFREE	26291741, 27682504, 28687846, 28915256, 29486903		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	26146801, 27297219, 28234680, 29174012, 30240137, 30485355, 30577706, 31253843, 31562857		★☆☆☆☆ Found in Text Mining only
Glaucoma, Suspect	Glaucoma	BEFREE	28832670, 30910584, 31648802		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36658114	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	8121549		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	8121549		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	28821236, 29567794, 29879284, 29927468, 30352604, 30971814		★☆☆☆☆ Found in Text Mining only
Gyrate Atrophy	Gyrate Atrophy	BEFREE	31344241		★☆☆☆☆ Found in Text Mining only
Hemianopsia	Hemianopsia	BEFREE	28863215		★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	BEFREE	29643463		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30073350, 30113530		★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	28834946		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31667327		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	27555452, 30055838, 31152630		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	31147610		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	12384147	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28824294		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28824294		★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	29392131, 29651339		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	28358158		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	31733303		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	8121549		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	10023342, 8675742		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	8675742		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	27099955	Associate	★☆☆☆☆ Found in Text Mining only
Macular degeneration	Macular Degeneration	BEFREE	31833436		★☆☆☆☆ Found in Text Mining only
Macular Edema, Cystoid	Cystoid macular edema	BEFREE	22217031, 27834465, 28538262, 28917401, 29023491, 29566387, 29916124, 31016197, 31344241		★☆☆☆☆ Found in Text Mining only
Macular retinal edema	Macular edema	BEFREE	29023491		★☆☆☆☆ Found in Text Mining only
Malattia Leventinese	Malattia Leventinese	BEFREE	28088509		★☆☆☆☆ Found in Text Mining only
Malignant melanoma of choroid	Choroidal melanoma	BEFREE	30121646		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	28327613		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21925246		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23708657		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28327613, 30121646, 31752775		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	29765495		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30218634		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	29398701, 31139918		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	17339520		★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	MERRF Syndrome	BEFREE	29979334		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	31667327		★☆☆☆☆ Found in Text Mining only
Miosis disorder	Miosis Disorder	BEFREE	29094326		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	17339520		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	PSYGENET_DG	17339520		★☆☆☆☆ Found in Text Mining only
Morning glory syndrome	Morning glory syndrome	BEFREE	28040527		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis VII	Mucopolysaccharidosis	BEFREE	27648682		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28374232, 28531809, 29153600, 29303033, 30060979, 30624088, 30947064, 31326867, 31507527		★☆☆☆☆ Found in Text Mining only
MUNGAN SYNDROME	MUNGAN SYNDROME	BEFREE	28040527		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	26645360, 27796669, 28314832, 29550000, 30144950, 31251762, 31387095, 31752019		★☆☆☆☆ Found in Text Mining only
Myopia, Degenerative	Myopia	BEFREE	27531357		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17335564, 18299461, 21925246, 23708657, 28009412, 28438190, 29201456, 29863536, 30422624, 31548135, 8121549		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11374892, 8121549		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31054866		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	30060979, 31507527		★☆☆☆☆ Found in Text Mining only
Night Blindness, Congenital Stationary, Type 1A	Night blindness	BEFREE	31826698		★☆☆☆☆ Found in Text Mining only
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A	Night blindness	BEFREE	21920492		★☆☆☆☆ Found in Text Mining only
Nonarteritic anterior ischemic optic neuropathy (NAION)	Nonarteritic Anterior Ischemic Optic Neuropathy	BEFREE	27914988, 28316838, 28687846, 29490340, 29733809, 30240137, 31562857		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	39743445	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCCULT MACULAR DYSTROPHY	OCCULT MACULAR DYSTROPHY	BEFREE	23229695, 26782618, 28473427		★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	BEFREE	25558173		★☆☆☆☆ Found in Text Mining only
Oculo-dento-digital syndrome	Oculodentodigital dysplasia	BEFREE	30767687		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	28316838		★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	28286264		★☆☆☆☆ Found in Text Mining only
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY	Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	BEFREE	28286264		★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	15629831, 30259673		★☆☆☆☆ Found in Text Mining only
Optic Disk Drusen	Optic Disk Drusen	BEFREE	23143909, 27817914, 29095768, 29186723, 29649006, 31609840, 31744797		★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic Neuritis	BEFREE	27775238, 29111873, 29153600, 29303033, 29500696		★☆☆☆☆ Found in Text Mining only
Ornithine carbamoyltransferase deficiency	Ornithine Carbamoyltransferase Deficiency	BEFREE	11117428, 7474892		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	16932874		★☆☆☆☆ Found in Text Mining only
Papilledema	Papilledema	BEFREE	29733809, 30640969		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29755728, 30098201		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	29631900		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	31078542		★☆☆☆☆ Found in Text Mining only
Pigmented Paravenous Chorioretinal Atrophy	Pigmented Paravenous Chorioretinal Atrophy	BEFREE	29772051		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	31231308		★☆☆☆☆ Found in Text Mining only
Polar cataract	Cataract	BEFREE	30241720		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	24533710, 30671258		★☆☆☆☆ Found in Text Mining only
Postmenopausal frontal fibrosing alopecia	Frontal fibrosing alopecia	BEFREE	28859221		★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	27899368		★☆☆☆☆ Found in Text Mining only
Primary congenital glaucoma	Congenital glaucoma	BEFREE	30951827		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	29387005		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	29460018, 29507304, 31078542		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23708657		★☆☆☆☆ Found in Text Mining only
Pseudopapilledema	Pseudopapilledema	BEFREE	30640969		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	29986671		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	28760722		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	30204490		★☆☆☆☆ Found in Text Mining only
Retinal Artery Occlusion	Retinal Artery Occlusion	BEFREE	31291918		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	BEFREE	31185026		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	21558291, 28187882, 28547533, 28856832, 28860042, 29304270, 29551606, 30175386, 30650130, 30852735, 31647423		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	27099955	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Pigment Epithelial Detachment	Retinal Pigment Epithelial Detachment	BEFREE	29863533, 29929478, 30015765, 30679743, 30798261		★☆☆☆☆ Found in Text Mining only
Retinal Vein Occlusion	Retinal Vein Occlusion	BEFREE	30565180		★☆☆☆☆ Found in Text Mining only
Retinitis	Retinitis	BEFREE	31580177		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	21920492, 27343210, 27834465, 29068913, 29982897, 30177829, 30395672, 30570620		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	35295047	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	31548135		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	29079216, 30767687, 31808314		★☆☆☆☆ Found in Text Mining only
Retinoschisis	Retinoschisis	BEFREE	29860466, 31300972, 31684897		★☆☆☆☆ Found in Text Mining only
Retinoschisis, Juvenile, X-Linked	Retinoschisis, X-Linked	BEFREE	19373267, 26823236		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	2344006		★☆☆☆☆ Found in Text Mining only
Rhegmatogenous retinal detachment	Rhegmatogenous retinal detachment	BEFREE	28196050, 29451996		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16402134, 17339520, 17346868, 18065206, 20684831, 29320740		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	16402134, 18065206, 18096369		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	18583979		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schnyder crystalline corneal dystrophy	Schnyder crystalline corneal dystrophy	BEFREE	19649163		★☆☆☆☆ Found in Text Mining only
Scleral staphyloma	Scleral staphyloma	BEFREE	28097437, 31181108		★☆☆☆☆ Found in Text Mining only
Serous retinal detachment	Serous Retinal Detachment	BEFREE	31013174		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	28209502, 28233894, 29858182, 30662841		★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	29733465		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	28776772		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	27983728		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	31454715		★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	27973332, 30946013		★☆☆☆☆ Found in Text Mining only
STARGARDT DISEASE 1 (disorder)	Stargardt disease	BEFREE	22589445, 23882696, 26743751, 27628426, 29049723, 29304098		★☆☆☆☆ Found in Text Mining only
Stickler syndrome (disorder)	Stickler syndrome	BEFREE	28283280		★☆☆☆☆ Found in Text Mining only
Stickler syndrome, type 1	Stickler syndrome	BEFREE	28283280		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	30003227		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	22912587	Associate	★☆☆☆☆ Found in Text Mining only
Usher syndrome, type 1A	Usher Syndrome	BEFREE	29551606		★☆☆☆☆ Found in Text Mining only
Usher Syndrome, Type I	Usher Syndrome	BEFREE	29551606		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	28438190		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	29035612		★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic Syndrome	BEFREE	29396390		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	28700136, 30059755		★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	18619572, 21436265, 22633354, 28971288, 29288639, 31070670		★☆☆☆☆ Found in Text Mining only