BLTP1 (bridge-like lipid transfer protein family member 1)

Gene

• Entrez ID: 84162
• Gene name: Bridge-like lipid transfer protein family member 1
• Gene symbol: BLTP1
• Synonyms (NCBI Gene): ALKKUCS, FSA, KIAA1109, Tweek
• Chromosome: 4
• Chromosome location: 4q27

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs730882245	T>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, upstream transcript variant, genic upstream transcript variant
rs770791100	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs775516790	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs777407076	T>C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs886041465	->A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1051597475	C>T	Pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs1460624416	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1554025656	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1554059454	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1579206545	A>G	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018363	hsa-miR-335-5p	Microarray	18185580
MIRT041900	hsa-miR-484	CLASH	23622248
MIRT039681	hsa-miR-615-3p	CLASH	23622248
MIRT163985	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT163987	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT163994	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT163988	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT163995	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT164002	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT164004	hsa-miR-873-5p	PAR-CLIP	21572407
MIRT163999	hsa-miR-497-3p	PAR-CLIP	21572407
MIRT502162	hsa-miR-944	PAR-CLIP	21572407
MIRT163998	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT164012	hsa-miR-4528	PAR-CLIP	21572407
MIRT163993	hsa-miR-219a-2-3p	PAR-CLIP	21572407
MIRT164014	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT502161	hsa-miR-1286	PAR-CLIP	21572407
MIRT502160	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT502159	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT502158	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT163985	hsa-miR-25-3p	PAR-CLIP	24398324
MIRT163987	hsa-miR-32-5p	PAR-CLIP	24398324
MIRT163994	hsa-miR-363-3p	PAR-CLIP	24398324
MIRT163988	hsa-miR-92a-3p	PAR-CLIP	24398324
MIRT163995	hsa-miR-367-3p	PAR-CLIP	24398324
MIRT164002	hsa-miR-92b-3p	PAR-CLIP	24398324
MIRT164004	hsa-miR-873-5p	PAR-CLIP	24398324
MIRT163999	hsa-miR-497-3p	PAR-CLIP	24398324
MIRT502162	hsa-miR-944	PAR-CLIP	24398324
MIRT163998	hsa-miR-410-3p	PAR-CLIP	24398324
MIRT164012	hsa-miR-4528	PAR-CLIP	24398324
MIRT163993	hsa-miR-219a-2-3p	PAR-CLIP	24398324
MIRT164014	hsa-miR-5589-3p	PAR-CLIP	24398324
MIRT502161	hsa-miR-1286	PAR-CLIP	24398324
MIRT502160	hsa-miR-4722-5p	PAR-CLIP	24398324
MIRT502159	hsa-miR-340-5p	PAR-CLIP	24398324
MIRT502158	hsa-miR-190a-3p	PAR-CLIP	24398324
MIRT163988	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT164002	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT163987	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT163985	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT163987	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT163994	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT163988	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT163995	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT164002	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT164004	hsa-miR-873-5p	PAR-CLIP	21572407
MIRT163999	hsa-miR-497-3p	PAR-CLIP	21572407
MIRT502162	hsa-miR-944	PAR-CLIP	21572407
MIRT163998	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT164012	hsa-miR-4528	PAR-CLIP	21572407
MIRT163993	hsa-miR-219a-2-3p	PAR-CLIP	21572407
MIRT164014	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT502161	hsa-miR-1286	PAR-CLIP	21572407
MIRT502160	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT502159	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT502158	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT163985	hsa-miR-25-3p	PAR-CLIP	24398324
MIRT163987	hsa-miR-32-5p	PAR-CLIP	24398324
MIRT163994	hsa-miR-363-3p	PAR-CLIP	24398324
MIRT163988	hsa-miR-92a-3p	PAR-CLIP	24398324
MIRT163995	hsa-miR-367-3p	PAR-CLIP	24398324
MIRT164002	hsa-miR-92b-3p	PAR-CLIP	24398324
MIRT164004	hsa-miR-873-5p	PAR-CLIP	24398324
MIRT163999	hsa-miR-497-3p	PAR-CLIP	24398324
MIRT502162	hsa-miR-944	PAR-CLIP	24398324
MIRT163998	hsa-miR-410-3p	PAR-CLIP	24398324
MIRT164012	hsa-miR-4528	PAR-CLIP	24398324
MIRT163993	hsa-miR-219a-2-3p	PAR-CLIP	24398324
MIRT164014	hsa-miR-5589-3p	PAR-CLIP	24398324
MIRT502161	hsa-miR-1286	PAR-CLIP	24398324
MIRT502160	hsa-miR-4722-5p	PAR-CLIP	24398324
MIRT502159	hsa-miR-340-5p	PAR-CLIP	24398324
MIRT502158	hsa-miR-190a-3p	PAR-CLIP	24398324
MIRT1088863	hsa-miR-1184	CLIP-seq
MIRT1088864	hsa-miR-1205	CLIP-seq
MIRT1088865	hsa-miR-128	CLIP-seq
MIRT1088866	hsa-miR-140-5p	CLIP-seq
MIRT1088867	hsa-miR-219-2-3p	CLIP-seq
MIRT1088868	hsa-miR-23a	CLIP-seq
MIRT1088869	hsa-miR-23b	CLIP-seq
MIRT1088870	hsa-miR-23c	CLIP-seq
MIRT1088871	hsa-miR-25	CLIP-seq
MIRT1088872	hsa-miR-27a	CLIP-seq
MIRT1088873	hsa-miR-27b	CLIP-seq
MIRT1088874	hsa-miR-300	CLIP-seq
MIRT1088875	hsa-miR-3065-5p	CLIP-seq
MIRT1088876	hsa-miR-3158-5p	CLIP-seq
MIRT1088877	hsa-miR-3166	CLIP-seq
MIRT1088878	hsa-miR-32	CLIP-seq
MIRT1088879	hsa-miR-323b-3p	CLIP-seq
MIRT1088880	hsa-miR-3545-5p	CLIP-seq
MIRT1088881	hsa-miR-3591-5p	CLIP-seq
MIRT1088882	hsa-miR-3613-3p	CLIP-seq
MIRT1088883	hsa-miR-363	CLIP-seq
MIRT1088884	hsa-miR-367	CLIP-seq
MIRT1088885	hsa-miR-381	CLIP-seq
MIRT1088886	hsa-miR-410	CLIP-seq
MIRT1088887	hsa-miR-4263	CLIP-seq
MIRT1088888	hsa-miR-4275	CLIP-seq
MIRT1088889	hsa-miR-4460	CLIP-seq
MIRT1088890	hsa-miR-4666-3p	CLIP-seq
MIRT1088891	hsa-miR-4678	CLIP-seq
MIRT1088892	hsa-miR-4727-3p	CLIP-seq
MIRT1088893	hsa-miR-4771	CLIP-seq
MIRT1088894	hsa-miR-4778-5p	CLIP-seq
MIRT1088895	hsa-miR-4799-5p	CLIP-seq
MIRT1088896	hsa-miR-495	CLIP-seq
MIRT1088897	hsa-miR-513a-5p	CLIP-seq
MIRT1088898	hsa-miR-544	CLIP-seq
MIRT1088899	hsa-miR-548n	CLIP-seq
MIRT1088900	hsa-miR-548t	CLIP-seq
MIRT1088901	hsa-miR-576-5p	CLIP-seq
MIRT1088902	hsa-miR-888	CLIP-seq
MIRT1088903	hsa-miR-92a	CLIP-seq
MIRT1088904	hsa-miR-92b	CLIP-seq
MIRT1088874	hsa-miR-300	CLIP-seq
MIRT1088885	hsa-miR-381	CLIP-seq
MIRT1088890	hsa-miR-4666-3p	CLIP-seq
MIRT1088891	hsa-miR-4678	CLIP-seq
MIRT2023510	hsa-miR-1264	CLIP-seq
MIRT1088866	hsa-miR-140-5p	CLIP-seq
MIRT1088872	hsa-miR-27a	CLIP-seq
MIRT1088873	hsa-miR-27b	CLIP-seq
MIRT1088874	hsa-miR-300	CLIP-seq
MIRT2023511	hsa-miR-338-5p	CLIP-seq
MIRT1088880	hsa-miR-3545-5p	CLIP-seq
MIRT1088881	hsa-miR-3591-5p	CLIP-seq
MIRT2023512	hsa-miR-3618	CLIP-seq
MIRT2023513	hsa-miR-375	CLIP-seq
MIRT1088885	hsa-miR-381	CLIP-seq
MIRT1088886	hsa-miR-410	CLIP-seq
MIRT1088888	hsa-miR-4275	CLIP-seq
MIRT1088889	hsa-miR-4460	CLIP-seq
MIRT1088890	hsa-miR-4666-3p	CLIP-seq
MIRT1088891	hsa-miR-4678	CLIP-seq
MIRT1088892	hsa-miR-4727-3p	CLIP-seq
MIRT1088897	hsa-miR-513a-5p	CLIP-seq
MIRT1088902	hsa-miR-888	CLIP-seq
MIRT1088863	hsa-miR-1184	CLIP-seq
MIRT1088864	hsa-miR-1205	CLIP-seq
MIRT2254404	hsa-miR-1208	CLIP-seq
MIRT2023510	hsa-miR-1264	CLIP-seq
MIRT1088865	hsa-miR-128	CLIP-seq
MIRT1088866	hsa-miR-140-5p	CLIP-seq
MIRT1088867	hsa-miR-219-2-3p	CLIP-seq
MIRT1088871	hsa-miR-25	CLIP-seq
MIRT1088872	hsa-miR-27a	CLIP-seq
MIRT1088873	hsa-miR-27b	CLIP-seq
MIRT1088874	hsa-miR-300	CLIP-seq
MIRT2254405	hsa-miR-3134	CLIP-seq
MIRT1088876	hsa-miR-3158-5p	CLIP-seq
MIRT1088877	hsa-miR-3166	CLIP-seq
MIRT1088878	hsa-miR-32	CLIP-seq
MIRT1088879	hsa-miR-323b-3p	CLIP-seq
MIRT2254406	hsa-miR-340	CLIP-seq
MIRT1088880	hsa-miR-3545-5p	CLIP-seq
MIRT1088882	hsa-miR-3613-3p	CLIP-seq
MIRT2023512	hsa-miR-3618	CLIP-seq
MIRT1088883	hsa-miR-363	CLIP-seq
MIRT1088884	hsa-miR-367	CLIP-seq
MIRT2023513	hsa-miR-375	CLIP-seq
MIRT1088885	hsa-miR-381	CLIP-seq
MIRT1088886	hsa-miR-410	CLIP-seq
MIRT1088888	hsa-miR-4275	CLIP-seq
MIRT2254407	hsa-miR-4420	CLIP-seq
MIRT1088889	hsa-miR-4460	CLIP-seq
MIRT2254408	hsa-miR-4534	CLIP-seq
MIRT1088890	hsa-miR-4666-3p	CLIP-seq
MIRT2254409	hsa-miR-4672	CLIP-seq
MIRT1088891	hsa-miR-4678	CLIP-seq
MIRT1088893	hsa-miR-4771	CLIP-seq
MIRT1088894	hsa-miR-4778-5p	CLIP-seq
MIRT1088896	hsa-miR-495	CLIP-seq
MIRT1088897	hsa-miR-513a-5p	CLIP-seq
MIRT1088898	hsa-miR-544	CLIP-seq
MIRT1088902	hsa-miR-888	CLIP-seq
MIRT1088903	hsa-miR-92a	CLIP-seq
MIRT1088904	hsa-miR-92b	CLIP-seq
MIRT1088879	hsa-miR-323b-3p	CLIP-seq
MIRT2254409	hsa-miR-4672	CLIP-seq
MIRT1088896	hsa-miR-495	CLIP-seq
MIRT2556841	hsa-miR-3651	CLIP-seq
MIRT2556842	hsa-miR-4719	CLIP-seq
MIRT2556843	hsa-miR-520d-5p	CLIP-seq
MIRT2556844	hsa-miR-524-5p	CLIP-seq
MIRT2556845	hsa-miR-561	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001558	Process	Regulation of cell growth	NAS	17190194
GO:0005515	Function	Protein binding	IPI	20195357
GO:0005634	Component	Nucleus	NAS	17190194
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006909	Process	Phagocytosis	IMP	31540829
GO:0015914	Process	Phospholipid transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	16632497
GO:0016197	Process	Endosomal transport	IMP	30906834
GO:0030856	Process	Regulation of epithelial cell differentiation	NAS	17190194
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0032456	Process	Endocytic recycling	IMP	30906834
GO:0048488	Process	Synaptic vesicle endocytosis	IBA
GO:0098793	Component	Presynapse	IEA
GO:0120009	Process	Intermembrane lipid transfer	ISS
GO:0140268	Component	Endoplasmic reticulum-plasma membrane contact site	ISS
GO:1904121	Function	Phosphatidylethanolamine transfer activity	ISS

Other IDs

• MIM: 611565
• HGNC: 26953
• e!Ensembl: ENSG00000138688

Protein

• UniProt ID: Q2LD37
• Protein name: Bridge-like lipid transfer protein family member 1 (Fragile site-associated protein)
• Protein function: Tube-forming lipid transport protein which provides phosphatidylethanolamine for glycosylphosphatidylinositol (GPI) anchor synthesis in the endoplasmic reticulum (Probable). Plays a role in endosomal trafficking and endosome recycling. Also invo
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10479	FSA_C	4384 → 4902	Fragile site-associated protein C-terminus	Family
  PF10479	FSA_C	4898 → 4989	Fragile site-associated protein C-terminus	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in testis and ovary. Weakly or not expressed in other tissues. {ECO:0000269|PubMed:16545529}.
• Sequence:

  MDQRKNESIVPSITQLEDFLTEHNSNVVWLLVATILSCGWIIYLTYYNSRNVGLILTLVL
  NRLYKHGYIHIGSFSFSVLSGKVMVREIYYITEDMSIRIQDGFIIFRWWKMYNPKQKQHD
  PKAETRLYITVNDFEFHVYNRSDLYGRLQELFGLEPTIIPPKKDDDKTREIGRTRTQSKI
  ERVKVKTESQDPTSSWRSLIPVIKVNVSTGRLAFGNHYQPQTLCINFDDAFLTYTTKPPS
  SHLDQFMHIVKGKLENVRVMLVPSPRYVGLQNDEPPRLMGEGFVVMQSNDVDIYYYMDEP
  GLVPEETEENIEGEMSSEDCKLQDLPPCWGLDIVCGKGTDFNYGPWADRQRDCLWKFFFP
  PDYQVLKVSEIAQPGRPRQILAFELRMNIIADATIDLLFTKNRETNAVHVNVGAGSYLEI
  NIPMTVEENGYTPAIKGQLLHVDATTSMQYRTLLEAEMLAFHINASYPRIWNMPQTWQCE
  LEVYKATYHFIFAQKNFFTDLIQDWSSDSPPDIFSFVPYTWNFKIMFHQFEMIWAANQHN
  WIDCSTKQQENVYLAACGETLNIDFSLPFTDFVPATCNTKFSLRGEDVDLHLFLPDCHPS
  KYSLFMLVKNCHPNKMIHDTGIPAECQSGQKTVKPKWRNVTQEKSGWVECWTVPSVMLTI
  DYTWHPIYPQKADEQLKQSLSEMEETMLSVLRPSQKTSDRVVSSPSTSSRPPIDPSELPP
  DKLHVEMELSPDSQITLYGPLLNAFLCIKENYFGEDDMYMDFEEVISSPVLSLSTSSSSG
  WTAVGMENDKKENEGSAKSIHPLALRPWDITVLVNLYKVHGRLPVHGTTDGPECPTAFLE
  RLCFEMKKGFRETMLQLILSPLNVFVSDNYQQRPPVDEVLREGHINLSGLQLRAHAMFSA
  EGLPLGSDSLEYAWLIDVQAGSLTAKVTAPQLACLLEWGQTFVFHVVCREYELERPKSVI
  ICQHGIDRRFCESKLSCIPGPCPTSDDLKYTMIRLAVDGADIYIVEHGCATNIKMGAIRV
  ANCNLHNQSVGEGISAAIQDFQVRQYIEQLNNCRIGLQPAVLRRAYWLEAGSANLGLITV
  DIALAADHHSKHEAQRHFLETHDARTKRLWFLWPDDILKNKRCRNKCGCLGGCRFFGGTV
  TGLDFFKLEELTPSSSSAFSSTSAESDMYYGQSLLQPGEWIITKEIPKIIDGNVNGMKRK
  EWENKSVGIEVERKTQHLSLQVPLRSHSSSSSSEENSSSSAAQPLLAGEKESPSSVADDH
  LVQKEFLHGTKRDDGQASIPTEISGNSPVSPNTQDKSVGQSPLRSPLKRQASVCSTRLGS
  TKSLTAAFYGDKQPVTVGVQFSSDVSRSDENVLDSPKQRRSFGSFPYTPSADSNSFHQYR
  SMDSSMSMADSEAYFSAAEEFEPISSDEGPGTYPGRKKKKKQTQQIDYSRGSIYHSVEGP
  LTGHGESIQDSRTLPFKTHPSQASFVSALGGEDDVIEHLYIVEGEKTVESEQITPQQPVM
  NCYQTYLTQFQVINWSVKHPTNKRTSKSSLHRPLDLDTPTSEESSSSFEQLSVPTFKVIK
  QGLTANSLLDRGMQLSGSTSNTPYTPLEKKLADNTDDETLTEEWTLDQPVSQTRTTAIVE
  VKGTVDIVLTPLVAEALDRYIEAMVHCASTRHPAAIVDDLHAKVLREAVQNSKTTFSENL
  SSKQDIRGTKTEQSTIGTTNQGQAQTNLTMKQDNVTIKGLQTNVSIPKVNLCLLQASVEE
  SPTTAPSRSVTHVSLVALCFDRIATQVRMNRGVVEETSNNAEPGRTSNFDRYVHATKMQP
  QSSGSLRSNAGAEKGKEIAAKLNIHRVHGQLRGLDTTDIGTCAITAIPFEKSKVLFTLEE
  LDEFTFVDETDQQAVPDVTRIGPSQEKWGWIMFECGLENLTIKGGRQSGAVLYNSFGIMG
  KASDTERGGVLTSNNSSDSPTGSGYNTDVSDDNLPCDRTSPSSDLNGNSVSDEQDEGVES
  DDLKKDLPLMPPPPDSCSMKLTIKEIWFSFAAPTNVRSHTHAFSRQLNLLSTATPAVGAW
  LVPIDQLKSSLNKLETEGTLRICAVMGCIMTEALENKSVHFPLRSKYNRLTKVARFLQEN
  PSCLLCNILHHYLHQANYSIIDDATMSDGLPALVTLKKGLVALARQWMKFIVVTPAFKGV
  SLHRPAQPLKPQIAMDHEHEDGLGLDNGGGLQSDTSADGAEFEFDAATVSEHTMLLEGTA
  NRPPPGSSGPVTGAEIMRKLSKTHTHSDSALKIKGIHPYHSLSYTSGDTATDSPVHVGRA
  GMPVKDSPRKESLLSYLTGSFPSLHNLLEGTPQRSSAAVKSSSLTRTGNTVATDMLSEHP
  LLSEPSSVSFYNWMSNAVGNRGSVLQESPVTKSGHNSLPTGVAPNLPTIPSASDFNTVLS
  SDQNTLDGTHSQHSTSQDDVAGVEEANQGFPAVQLADAQVVFKPLLSHTGIQSQDTMPFC
  YRMYFGEHLSFSGTLDCLRADIVDSDTAKERKGKRARRQGHVNLPPLEFKPALMLGTFSI
  SAVVMEKSVCTPQNSTSALSFHDLSKRYYNTFHCNFTISCQSISQHVDMALVRLIHQFST
  MIDDIKATQTDIKLSRYTAGSASPTPTFKTRKHRDFRSSDFSRSSRGSLNGGNRVNNAKN
  KRTNNENNKKESRNKNSLGRSERRTSKVSRKGSKDVVDHMTIHMDDSDSITVSEQSEPSA
  ECWQNMYKLLNFYSLISDPTGILEKSSETFGPAGVRSPTEPTCKVVFENEQDNSSLTKTQ
  RKRSLVTSEPQHVTLIVFGIGMVNRTHLEADIGGLTMESELKRIHGSFTLKEKMKDVLHQ
  KMTETCATAHIGGVNIVLLEGITPNIQLEDFPTSPTSTAKQEFLTVVKCSIAKSQALYSA
  QRGLKTNNAAVFKVGAISINIPQHPATLHSMMVRSSHQLSKQISDLIRQPSTAPQPVKED
  IATPLPSEKTPTSVNQTPVETNEFPQLPEGLEKKPIVLKFSAMLDGIAIGAALLPSLKAE
  YKMGRMRSHGMTGAQTRFTFELPNHRLRFTSKVSATDMSTIPPSASLNLPPVTMSGKYIM
  EEHDSYSDQVWSIDELPSKQGYYLQGNYLRCVAEVGSFEHNLTTDLLNHLVFVQKVFMKE
  VNEVIQKVSGGEQPIPLWNEHDGTADGDKPKILLYSLNLQFKGIQVTATTPSMRAVRFET
  GLIELELSNRLQTKASPGSSSYLKLFGKCQVDLNLALGQIVKHQVYEEAGSDFHQVAYFK
  TRIGLRNALREEISGSSDREAVLITLNRPIVYAQPVAFDRAVLFWLNYKAAYDNWNEQRM
  ALHKDIHMATKEVVDMLPGIQQTSAQAFGTLFLQLTVNDLGICLPITNTAQSNHTGDLDT
  GSALVLTIESTLITACSSESLVSKGHFKNFCIRFADGFETSWDDWKPEIHGDLVMNACVV
  PDGTYEVCSRTTGQAAAESSSAGTWTLNVLWKMCGIDVHMDPNIGKRLNALGNTLTTLTG
  EEDIDDIADLNSVNIADLSDEDEVDTMSPTIHTEATDYRRQAASASQPGELRGRKIMKRI
  VDIRELNEQAKVIDDLKKLGASEGTINQEIQRYQQLESVAVNDIRRDVRKKLRRSSMRAA
  SLKDKWGLSYKPSYSRSKSISASGRPPLKRMERASSRVGETEELPEIRVDAASPGPRVTF
  NIQDTFPEETELDLLSVTIEGPSHYSSNSEGSCSVFSSPKTPGGFSPGIPFQTEEGRRDD
  SLSSTSEDSEKDEKDEDHERERFYIYRKPSHTSRKKATGFAAVHQLFTERWPTTPVNRSL
  SGTATERNIDFELDIRVEIDSGKCVLHPTTLLQEHDDISLRRSYDRSSRSLDQDSPSKKK
  KFQTNYASTTHLMTGKKVPSSLQTKPSDLETTVFYIPGVDVKLHYNSKTLKTESPNASRG
  SSLPRTLSKESKLYGMKDSATSPPSPPLPSTVQSKTNTLLPPQPPPIPAAKGKGSGGVKT
  AKLYAWVALQSLPEEMVISPCLLDFLEKALETIPITPVERNYTAVSSQDEDMGHFEIPDP
  MEESTTSLVSSSTSAYSSFPVDVVVYVRVQPSQIKFSCLPVSRVECMLKLPSLDLVFSSN
  RGELETLGTTYPAETLSPGGNATQSGTKTSASKTGIPGSSGLGSPLGRSRHSSSQSDLTS
  SSSSSSGLSFTACMSDFSLYVFHPYGAGKQKTAVSGLTPGSGGLGNVDEEPTSVTGRKDS
  LSINLEFVKVSLSRIRRSGGASFFESQSVSKSASKMDTTLINISAVCDIGSASFKYDMRR
  LSEILAFPRAWYRRSIARRLFLGDQTINLPTSGPGTPDSIEGVSQHLSPESSRKAYCKTW
  EQPSQSASFTHMPQSPNVFNEHMTNSTMSPGTVGQSLKSPASIRSRSVSDSSVPRRDSLS
  KTSTPFNKSNKAASQQGTPWETLVVFAINLKQLNVQMNMSNVMGNTTWTTSGLKSQGRLS
  VGSNRDREISMSVGLGRSQLDSKGGVVGGTIDVNALEMVAHISEHPNQQPSHKIQITMGS
  TEARVDYMGSSILMGIFSNADLKLQDEWKVNLYNTLDSSITDKSEIFVHGDLKWDIFQVM
  ISRSTTPDLIKIGMKLQEFFTQQFDTSKRALSTWGPVPYLPPKTMTSNLEKSSQEQLLDA
  AHHRHWPGVLKVVSGCHISLFQIPLPEDGMQFGGSMSLHGNHMTLACFHGPNFRSKSWAL
  FHLEEPNIAFWTEAQKIWEDGSSDHSTYIVQTLDFHLGHNTMVTKPCGALESPMATITKI
  TRRRHENPPHGVASVKEWFNYVTATRNEELNLLRNVDANNTENSTTVKNSSLLSGFRGGS
  SYNHETETIFALPRMQLDFKSIHVQEPQEPSLQDASLKPKVECSVVTEFTDHICVTMDAE
  LIMFLHDLVSAYLKEKEKAIFPPRILSTRPGQKSPIIIHDDNSSDKDREDSITYTTVDWR
  DFMCNTWHLEPTLRLISWTGRKIDPVGVDYILQKLGFHHARTTIPKWLQRGVMDPLDKVL
  SVLIKKLGTALQDEKEKKGKDKEEH

• Sequence length: 5005

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
Alkuraya-Kucinskas syndrome	Pathogenic; Likely pathogenic	rs1245182875, rs1787740370, rs2150047294, rs2149413101, rs2148690880, rs527467559, rs1460702087, rs730882245, rs1200235313, rs1782343581, rs2478086569, rs2480758383, rs2483504427, rs1771788877, rs2478075183, rs1397154022, rs752887801, rs1554025656, rs775516790, rs1051597475, rs1554059454, rs1579206545, rs1753117321, rs1188013106	RCV001332056 RCV001844364 RCV001844365 RCV001783507 RCV001783508 RCV001782338 RCV002281888 RCV000576897 RCV003146817 RCV003146819 RCV003146822 RCV003233059 RCV003777336 RCV003330465 RCV003389589 RCV003594708 RCV003988584 RCV000576894 RCV000576896 RCV000576899 RCV000576895 RCV000991428 RCV001251434 RCV001196392	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arthrogryposis multiplex congenita	Likely pathogenic	rs1460624416, rs777407076, rs1741122462, rs775292946	RCV000855516 RCV000855517 RCV001257402 RCV001257375	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BLTP1-related disorder	Likely pathogenic	rs1280760946, rs779799402, rs1186567070	RCV003402515 RCV003397465 RCV003934323	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clubfoot	Likely pathogenic	rs1741122462, rs775292946	RCV001257402 RCV001257375	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fetal akinesia deformation sequence 1	Likely pathogenic	rs1460624416, rs777407076	RCV000855516 RCV000855517	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemivertebrae	Pathogenic	rs1773935759	RCV001257376	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal agenesis	Pathogenic	rs1773935759	RCV001257376	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Right aortic arch	Pathogenic	rs1773935759	RCV001257376	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe hydrocephalus	Likely pathogenic	rs1741122462, rs775292946	RCV001257402 RCV001257375	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF KIDNEY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CLUBFOOT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEMIVERTEBRA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DANDY-WALKER SYNDROME	—	Disgenet	★★☆☆☆ 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
GENERALIZED ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROCEPHALUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	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
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ 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
MICROGNATHISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ 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	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ALKURAYA-KUCINSKAS SYNDROME	Alkuraya-Kucinskas Syndrome	UNIPROT_DG	25558065, 29290337		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ALKURAYA-KUCINSKAS SYNDROME	Alkuraya-Kucinskas Syndrome	GENOMICS_ENGLAND_DG	28749478, 29290337, 30906834		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ALKURAYA-KUCINSKAS SYNDROME	Alkuraya-Kucinskas Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Anterior uveitis	Uveitis	BEFREE	22065918		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	17999365, 19302705, 20553587, 22355377	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	29290337		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASDB_DG	21150878, 21907864		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	29785011, 30929738, 31619474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	30552067	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	30896504, 31090575		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	17999365, 25037274		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	17999365, 20184734	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASDB_DG	21383967		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	22876110		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	22876110	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28600360		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28258849		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	LHGDN	17558408		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASDB_DG	17558408, 20190752, 24999842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	BEFREE	17999365, 18418394, 19455118		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	Pubtator	17999365, 21760890, 27836013, 30968606	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASCAT_DG	20190752, 24999842, 25920553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	19201773	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	19201773	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26192919		★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis, Atopic	Dermatitis	GWASCAT_DG	25574825		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	17999365, 20553587	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	17999365		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	19430480		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	19430480, 25751624		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	28694483	Associate	★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	11462240, 3358421		★☆☆☆☆ Found in Text Mining only
FRAXE Syndrome	Fragile X syndrome	BEFREE	11462240		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus	Hydrocephalus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	GWASDB_DG	21383967		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	23128233, 26192919		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASDB_DG	23128233		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	38199515	Inhibit	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	11246464		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29942085, 30718901		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	28600360		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	11246464		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	11246464, 6595664		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	22190364		★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	30968606	Associate	★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	GWASDB_DG	22521342		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20184734	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	25574825		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	19302705, 20553587		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	20453842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	20453842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	37667381	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	21304239		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26192919		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveitis	Uveitis	BEFREE	22876110		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	22876110	Stimulate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	22876110	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis Intermediate	Uveitis	Pubtator	22876110	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis Posterior	Uveitis	Pubtator	22876110	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis, Posterior	Uveitis	BEFREE	22876110		★☆☆☆☆ Found in Text Mining only