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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	25929
Gene name	Gem nuclear organelle associated protein 5
Gene symbol	GEMIN5
Synonyms (NCBI Gene)	GEMIN-5NEDCAM
Chromosome	5
Chromosome location	5q33.2
Summary	This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also m

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Show/Hide all (249)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020655	hsa-miR-155-5p	Proteomics	18668040
MIRT025417	hsa-miR-34a-5p	Proteomics	21566225
MIRT031602	hsa-miR-16-5p	Proteomics	18668040
MIRT032254	hsa-let-7b-5p	Proteomics	18668040
MIRT047681	hsa-miR-10a-5p	CLASH	23622248
MIRT043250	hsa-miR-324-5p	CLASH	23622248
MIRT036905	hsa-miR-877-3p	CLASH	23622248
MIRT035885	hsa-miR-1303	CLASH	23622248
MIRT1016159	hsa-miR-103a	CLIP-seq
MIRT1016160	hsa-miR-107	CLIP-seq
MIRT1016161	hsa-miR-1200	CLIP-seq
MIRT1016162	hsa-miR-1231	CLIP-seq
MIRT1016163	hsa-miR-1245b-3p	CLIP-seq
MIRT1016164	hsa-miR-1257	CLIP-seq
MIRT1016165	hsa-miR-1271	CLIP-seq
MIRT1016166	hsa-miR-1305	CLIP-seq
MIRT1016167	hsa-miR-182	CLIP-seq
MIRT1016168	hsa-miR-1827	CLIP-seq
MIRT1016169	hsa-miR-186	CLIP-seq
MIRT1016170	hsa-miR-2467-3p	CLIP-seq
MIRT1016171	hsa-miR-3136-5p	CLIP-seq
MIRT1016172	hsa-miR-3158-5p	CLIP-seq
MIRT1016173	hsa-miR-3163	CLIP-seq
MIRT1016174	hsa-miR-3179	CLIP-seq
MIRT1016175	hsa-miR-340	CLIP-seq
MIRT1016176	hsa-miR-34a	CLIP-seq
MIRT1016177	hsa-miR-34c-5p	CLIP-seq
MIRT1016178	hsa-miR-3660	CLIP-seq
MIRT1016179	hsa-miR-3662	CLIP-seq
MIRT1016180	hsa-miR-3678-3p	CLIP-seq
MIRT1016181	hsa-miR-371-5p	CLIP-seq
MIRT1016182	hsa-miR-383	CLIP-seq
MIRT1016183	hsa-miR-425	CLIP-seq
MIRT1016184	hsa-miR-4257	CLIP-seq
MIRT1016185	hsa-miR-4275	CLIP-seq
MIRT1016186	hsa-miR-4299	CLIP-seq
MIRT1016187	hsa-miR-4316	CLIP-seq
MIRT1016188	hsa-miR-4324	CLIP-seq
MIRT1016189	hsa-miR-4418	CLIP-seq
MIRT1016190	hsa-miR-4439	CLIP-seq
MIRT1016191	hsa-miR-4456	CLIP-seq
MIRT1016192	hsa-miR-449a	CLIP-seq
MIRT1016193	hsa-miR-449b	CLIP-seq
MIRT1016194	hsa-miR-4526	CLIP-seq
MIRT1016195	hsa-miR-4540	CLIP-seq
MIRT1016196	hsa-miR-4659a-3p	CLIP-seq
MIRT1016197	hsa-miR-4659b-3p	CLIP-seq
MIRT1016198	hsa-miR-4666-5p	CLIP-seq
MIRT1016199	hsa-miR-4668-5p	CLIP-seq
MIRT1016200	hsa-miR-4699-3p	CLIP-seq
MIRT1016201	hsa-miR-4710	CLIP-seq
MIRT1016202	hsa-miR-4762-3p	CLIP-seq
MIRT1016203	hsa-miR-4768-3p	CLIP-seq
MIRT1016204	hsa-miR-4772-5p	CLIP-seq
MIRT1016205	hsa-miR-4792	CLIP-seq
MIRT1016206	hsa-miR-494	CLIP-seq
MIRT1016207	hsa-miR-505	CLIP-seq
MIRT1016208	hsa-miR-509-3-5p	CLIP-seq
MIRT1016209	hsa-miR-509-5p	CLIP-seq
MIRT1016210	hsa-miR-520d-5p	CLIP-seq
MIRT1016211	hsa-miR-524-5p	CLIP-seq
MIRT1016212	hsa-miR-544b	CLIP-seq
MIRT1016213	hsa-miR-548a-3p	CLIP-seq
MIRT1016214	hsa-miR-548aa	CLIP-seq
MIRT1016215	hsa-miR-548e	CLIP-seq
MIRT1016216	hsa-miR-548f	CLIP-seq
MIRT1016217	hsa-miR-548m	CLIP-seq
MIRT1016218	hsa-miR-548q	CLIP-seq
MIRT1016219	hsa-miR-570	CLIP-seq
MIRT1016220	hsa-miR-603	CLIP-seq
MIRT1016221	hsa-miR-610	CLIP-seq
MIRT1016222	hsa-miR-642b	CLIP-seq
MIRT1016223	hsa-miR-654-3p	CLIP-seq
MIRT1016224	hsa-miR-759	CLIP-seq
MIRT1016225	hsa-miR-943	CLIP-seq
MIRT1016226	hsa-miR-96	CLIP-seq
MIRT2000818	hsa-miR-1207-5p	CLIP-seq
MIRT1016163	hsa-miR-1245b-3p	CLIP-seq
MIRT2000819	hsa-miR-1262	CLIP-seq
MIRT2000820	hsa-miR-141	CLIP-seq
MIRT2000821	hsa-miR-1470	CLIP-seq
MIRT2000822	hsa-miR-200a	CLIP-seq
MIRT2000823	hsa-miR-2682	CLIP-seq
MIRT2000824	hsa-miR-296-3p	CLIP-seq
MIRT2000825	hsa-miR-3115	CLIP-seq
MIRT2000826	hsa-miR-3119	CLIP-seq
MIRT2000827	hsa-miR-3132	CLIP-seq
MIRT2000828	hsa-miR-3152-3p	CLIP-seq
MIRT1016172	hsa-miR-3158-5p	CLIP-seq
MIRT2000829	hsa-miR-3168	CLIP-seq
MIRT1016178	hsa-miR-3660	CLIP-seq
MIRT2000830	hsa-miR-3665	CLIP-seq
MIRT1016182	hsa-miR-383	CLIP-seq
MIRT2000831	hsa-miR-3925-3p	CLIP-seq
MIRT2000832	hsa-miR-3934	CLIP-seq
MIRT2000833	hsa-miR-4265	CLIP-seq
MIRT2000834	hsa-miR-4279	CLIP-seq
MIRT2000835	hsa-miR-4296	CLIP-seq
MIRT2000836	hsa-miR-4318	CLIP-seq
MIRT2000837	hsa-miR-4322	CLIP-seq
MIRT2000838	hsa-miR-433	CLIP-seq
MIRT2000839	hsa-miR-4417	CLIP-seq
MIRT2000840	hsa-miR-4427	CLIP-seq
MIRT2000841	hsa-miR-4453	CLIP-seq
MIRT2000842	hsa-miR-449c	CLIP-seq
MIRT2000843	hsa-miR-4503	CLIP-seq
MIRT2000844	hsa-miR-4509	CLIP-seq
MIRT1016194	hsa-miR-4526	CLIP-seq
MIRT2000845	hsa-miR-4538	CLIP-seq
MIRT2000846	hsa-miR-4667-3p	CLIP-seq
MIRT2000847	hsa-miR-4680-3p	CLIP-seq
MIRT2000848	hsa-miR-4693-5p	CLIP-seq
MIRT2000849	hsa-miR-4694-5p	CLIP-seq
MIRT1016200	hsa-miR-4699-3p	CLIP-seq
MIRT2000850	hsa-miR-4701-3p	CLIP-seq
MIRT2000851	hsa-miR-4712-5p	CLIP-seq
MIRT2000852	hsa-miR-4744	CLIP-seq
MIRT1016202	hsa-miR-4762-3p	CLIP-seq
MIRT2000853	hsa-miR-4763-3p	CLIP-seq
MIRT1016203	hsa-miR-4768-3p	CLIP-seq
MIRT1016204	hsa-miR-4772-5p	CLIP-seq
MIRT2000854	hsa-miR-4786-5p	CLIP-seq
MIRT2000855	hsa-miR-4796-5p	CLIP-seq
MIRT1016207	hsa-miR-505	CLIP-seq
MIRT1016210	hsa-miR-520d-5p	CLIP-seq
MIRT1016211	hsa-miR-524-5p	CLIP-seq
MIRT1016217	hsa-miR-548m	CLIP-seq
MIRT2000856	hsa-miR-581	CLIP-seq
MIRT1016220	hsa-miR-603	CLIP-seq
MIRT2000857	hsa-miR-606	CLIP-seq
MIRT2000858	hsa-miR-627	CLIP-seq
MIRT2000859	hsa-miR-642a	CLIP-seq
MIRT1016222	hsa-miR-642b	CLIP-seq
MIRT2000860	hsa-miR-657	CLIP-seq
MIRT2000861	hsa-miR-770-5p	CLIP-seq
MIRT2000862	hsa-miR-892a	CLIP-seq
MIRT2000863	hsa-miR-9	CLIP-seq
MIRT2000864	hsa-miR-924	CLIP-seq
MIRT2000865	hsa-miR-940	CLIP-seq
MIRT1016159	hsa-miR-103a	CLIP-seq
MIRT1016160	hsa-miR-107	CLIP-seq
MIRT2000818	hsa-miR-1207-5p	CLIP-seq
MIRT1016163	hsa-miR-1245b-3p	CLIP-seq
MIRT2000823	hsa-miR-2682	CLIP-seq
MIRT2000824	hsa-miR-296-3p	CLIP-seq
MIRT2000825	hsa-miR-3115	CLIP-seq
MIRT2000827	hsa-miR-3132	CLIP-seq
MIRT2234291	hsa-miR-362-5p	CLIP-seq
MIRT1016179	hsa-miR-3662	CLIP-seq
MIRT1016181	hsa-miR-371-5p	CLIP-seq
MIRT2234292	hsa-miR-371b-5p	CLIP-seq
MIRT1016182	hsa-miR-383	CLIP-seq
MIRT1016183	hsa-miR-425	CLIP-seq
MIRT1016189	hsa-miR-4418	CLIP-seq
MIRT2000842	hsa-miR-449c	CLIP-seq
MIRT1016195	hsa-miR-4540	CLIP-seq
MIRT1016200	hsa-miR-4699-3p	CLIP-seq
MIRT1016202	hsa-miR-4762-3p	CLIP-seq
MIRT2000853	hsa-miR-4763-3p	CLIP-seq
MIRT1016204	hsa-miR-4772-5p	CLIP-seq
MIRT2000855	hsa-miR-4796-5p	CLIP-seq
MIRT2234293	hsa-miR-500a	CLIP-seq
MIRT2234294	hsa-miR-500b	CLIP-seq
MIRT1016208	hsa-miR-509-3-5p	CLIP-seq
MIRT1016209	hsa-miR-509-5p	CLIP-seq
MIRT1016220	hsa-miR-603	CLIP-seq
MIRT2234295	hsa-miR-622	CLIP-seq
MIRT2234296	hsa-miR-630	CLIP-seq
MIRT1016222	hsa-miR-642b	CLIP-seq
MIRT2000865	hsa-miR-940	CLIP-seq
MIRT2538306	hsa-miR-1184	CLIP-seq
MIRT2538307	hsa-miR-1205	CLIP-seq
MIRT1016163	hsa-miR-1245b-3p	CLIP-seq
MIRT2000819	hsa-miR-1262	CLIP-seq
MIRT2000820	hsa-miR-141	CLIP-seq
MIRT2000821	hsa-miR-1470	CLIP-seq
MIRT2538308	hsa-miR-194	CLIP-seq
MIRT2000822	hsa-miR-200a	CLIP-seq
MIRT2000826	hsa-miR-3119	CLIP-seq
MIRT2000828	hsa-miR-3152-3p	CLIP-seq
MIRT1016172	hsa-miR-3158-5p	CLIP-seq
MIRT2000829	hsa-miR-3168	CLIP-seq
MIRT2000830	hsa-miR-3665	CLIP-seq
MIRT1016182	hsa-miR-383	CLIP-seq
MIRT2000831	hsa-miR-3925-3p	CLIP-seq
MIRT2000832	hsa-miR-3934	CLIP-seq
MIRT2000833	hsa-miR-4265	CLIP-seq
MIRT2000834	hsa-miR-4279	CLIP-seq
MIRT2000835	hsa-miR-4296	CLIP-seq
MIRT2000836	hsa-miR-4318	CLIP-seq
MIRT2000837	hsa-miR-4322	CLIP-seq
MIRT2000838	hsa-miR-433	CLIP-seq
MIRT2000839	hsa-miR-4417	CLIP-seq
MIRT2000840	hsa-miR-4427	CLIP-seq
MIRT2000841	hsa-miR-4453	CLIP-seq
MIRT2000843	hsa-miR-4503	CLIP-seq
MIRT2000844	hsa-miR-4509	CLIP-seq
MIRT2000845	hsa-miR-4538	CLIP-seq
MIRT2000846	hsa-miR-4667-3p	CLIP-seq
MIRT2000847	hsa-miR-4680-3p	CLIP-seq
MIRT2000848	hsa-miR-4693-5p	CLIP-seq
MIRT2000849	hsa-miR-4694-5p	CLIP-seq
MIRT1016200	hsa-miR-4699-3p	CLIP-seq
MIRT2000850	hsa-miR-4701-3p	CLIP-seq
MIRT2000851	hsa-miR-4712-5p	CLIP-seq
MIRT2000852	hsa-miR-4744	CLIP-seq
MIRT1016202	hsa-miR-4762-3p	CLIP-seq
MIRT1016204	hsa-miR-4772-5p	CLIP-seq
MIRT2000854	hsa-miR-4786-5p	CLIP-seq
MIRT1016210	hsa-miR-520d-5p	CLIP-seq
MIRT1016211	hsa-miR-524-5p	CLIP-seq
MIRT1016217	hsa-miR-548m	CLIP-seq
MIRT2000856	hsa-miR-581	CLIP-seq
MIRT1016220	hsa-miR-603	CLIP-seq
MIRT2000857	hsa-miR-606	CLIP-seq
MIRT2000858	hsa-miR-627	CLIP-seq
MIRT2000859	hsa-miR-642a	CLIP-seq
MIRT1016222	hsa-miR-642b	CLIP-seq
MIRT2000860	hsa-miR-657	CLIP-seq
MIRT2000861	hsa-miR-770-5p	CLIP-seq
MIRT2000862	hsa-miR-892a	CLIP-seq
MIRT2000863	hsa-miR-9	CLIP-seq
MIRT2000864	hsa-miR-924	CLIP-seq
MIRT1016163	hsa-miR-1245b-3p	CLIP-seq
MIRT2000819	hsa-miR-1262	CLIP-seq
MIRT2000820	hsa-miR-141	CLIP-seq
MIRT2000821	hsa-miR-1470	CLIP-seq
MIRT2538308	hsa-miR-194	CLIP-seq
MIRT2000822	hsa-miR-200a	CLIP-seq
MIRT2000826	hsa-miR-3119	CLIP-seq
MIRT1016182	hsa-miR-383	CLIP-seq
MIRT2000831	hsa-miR-3925-3p	CLIP-seq
MIRT2000838	hsa-miR-433	CLIP-seq
MIRT2000839	hsa-miR-4417	CLIP-seq
MIRT2000841	hsa-miR-4453	CLIP-seq
MIRT2000843	hsa-miR-4503	CLIP-seq
MIRT2000845	hsa-miR-4538	CLIP-seq
MIRT2000846	hsa-miR-4667-3p	CLIP-seq
MIRT1016200	hsa-miR-4699-3p	CLIP-seq
MIRT2000850	hsa-miR-4701-3p	CLIP-seq
MIRT1016202	hsa-miR-4762-3p	CLIP-seq
MIRT1016204	hsa-miR-4772-5p	CLIP-seq
MIRT1016210	hsa-miR-520d-5p	CLIP-seq
MIRT1016211	hsa-miR-524-5p	CLIP-seq
MIRT1016217	hsa-miR-548m	CLIP-seq
MIRT2000856	hsa-miR-581	CLIP-seq
MIRT1016220	hsa-miR-603	CLIP-seq
MIRT2000859	hsa-miR-642a	CLIP-seq
MIRT1016222	hsa-miR-642b	CLIP-seq

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000340	Function	RNA 7-methylguanosine cap binding	IDA	19750007, 27881600, 27881601
GO:0000387	Process	Spliceosomal snRNP assembly	EXP	12067652
GO:0000387	Process	Spliceosomal snRNP assembly	IBA
GO:0000387	Process	Spliceosomal snRNP assembly	IDA	18984161
GO:0000387	Process	Spliceosomal snRNP assembly	TAS	11714716
GO:0000398	Process	MRNA splicing, via spliceosome	TAS	11714716
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IEA
GO:0003730	Function	MRNA 3'-UTR binding	IBA
GO:0003730	Function	MRNA 3'-UTR binding	IDA	25911097
GO:0003730	Function	MRNA 3'-UTR binding	IEA
GO:0005515	Function	Protein binding	IPI	11714716, 16739988, 17178713, 19750007, 28514442, 33961781, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	11714716
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	11714716
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	18984161, 19750007, 20513430
GO:0005829	Component	Cytosol	TAS
GO:0006397	Process	MRNA processing	IEA
GO:0006412	Process	Translation	IEA
GO:0006417	Process	Regulation of translation	IEA
GO:0006417	Process	Regulation of translation	IMP	25911097, 27507887
GO:0008380	Process	RNA splicing	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016604	Component	Nuclear body	IDA	11714716
GO:0017069	Function	SnRNA binding	IDA	16857593
GO:0030619	Function	U1 snRNA binding	IDA	19377484, 19750007, 27881600
GO:0030621	Function	U4 snRNA binding	IDA	19377484, 27881601
GO:0030622	Function	U4atac snRNA binding	IDA	20513430
GO:0032797	Component	SMN complex	IBA
GO:0032797	Component	SMN complex	IDA	17178713, 18984161, 20513430
GO:0032797	Component	SMN complex	IPI	17178713
GO:0034718	Component	SMN-Gemin2 complex	IDA	19377484
GO:0034719	Component	SMN-Sm protein complex	IDA	18984161
GO:0043022	Function	Ribosome binding	IDA	27507887
GO:0065003	Process	Protein-containing complex assembly	TAS	11714716
GO:0097504	Component	Gemini of Cajal bodies	IEA

MIM	HGNC	e!Ensembl
607005	20043	ENSG00000082516

Q8TEQ6

Protein name

Gem-associated protein 5 (Gemin5)

Protein function

The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre-mRNAs (PubMed:16857593, PubMed:18984161, PubMed:2051

PDB

5GXH , 5GXI , 5H1J , 5H1K , 5H1L , 5H1M , 5H3S , 5H3T , 5H3U , 5TEE , 5TEF , 5THA , 6RNQ , 6RNS , 7XDT , 7XGR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	54 → 95	WD domain, G-beta repeat	Repeat
PF00400	WD40	185 → 255	WD domain, G-beta repeat	Repeat
PF12894	ANAPC4_WD40	391 → 480	Anaphase-promoting complex subunit 4 WD40 domain	Repeat
PF12894	ANAPC4_WD40	524 → 589	Anaphase-promoting complex subunit 4 WD40 domain	Repeat
PF00400	WD40	629 → 668	WD domain, G-beta repeat	Repeat

Sequence

MGQEPRTLPPSPNWYCARCSDAVPGGLFGFAARTSVFLVRVGPGAGESPGTPPFRVIGEL
VGHTERVSGFTFSHHPGQYNLCATSSDDGTVKIWDVETKTVVTEHALHQHTISTLHWSPR
VKDLIVSGDEKGVVFCYWFNRNDSQHLFIEPRTIFCLTCSPHHEDLVAIGYKDGIVVIID
ISKKGEVIHRLRGHDDEIHSIAWCPLPGEDCLSINQEETSEEAEITNGNAVAQAPVTKGC
YLATGSKDQTIRIWSCSRGRGVMILKLPFLKRRGGGIDPTVKERLWLTLHWPSNQPTQLV
SSCFGGELLQWDLTQSWRRKYTLFSASSEGQNHSRIVFNLCPLQTEDDKQLLLSTSMDRD
VKCWDIATLECSWTLPSLGGFAYSLAFSSVDIGSLAIGVGDGMIRVWNTLSIKNNYDVKN
FWQGVKSKVTALCWHPTKEGCLAFGTDDGKVGLYDTYSNKPPQISSTYHKKTVYTLAWGP
PVPPMSLGGEGDRPSLALYSCGGEGIVLQHNPWKLSGEAFDINKLIRDTNSIKYKLPVHT
EISWKADGKIMALGNEDGSIEIFQIPNLKLICTIQQHHKLVNTISWHHEHGSQPELSYLM
ASGSNNAVIYVHNLKTVIESSPESPVTITEPYRTLSGHTAKITSVAWSPHHDGRLVSASY
DGTAQVWDALREEPLCNFRGHRGRLLCVAWSPLDPDCIYSGADDFCVHKWLTSMQDHSRP
PQGKKSIELEKKRLSQPKAKPKKKKKPTLRTPVKLESIDGNEEESMKENSGPVENGVSDQ
EGEEQAREPELPCGLAPAVSREPVICTPVSSGFEKSKVTINNKVILLKKEPPKEKPETLI
KKRKARSLLPLSTSLDHRSKEELHQDCLVLATAKHSRELNEDVSADVEERFHLGLFTDRA
TLYRMIDIEGKGHLENGHPELFHQLMLWKGDLKGVLQTAAERGELTDNLVAMAPAAGYHV
WLWAVEAFAKQLCFQDQYVKAASHLLSIHKVYEAVELLKSNHFYREAIAIAKARLRPEDP
VLKDLYLSWGTVLERDGHYAVAAKCYLGATCAYDAAKVLAKKGDAASLRTAAELAAIVGE
DELSASLALRCAQELLLANNWVGAQEALQLHESLQGQRLVFCLLELLSRHLEEKQLSEGK
SSSSYHTWNTGTEGPFVERVTAVWKSIFSLDTPEQYQEAFQKLQNIKYPSATNNTPAKQL
LLHICHDLTLAVLSQQMASWDEAVQALLRAVVRSYDSGSFTIMQEVYSAFLPDGCDHLRD
KLGDHQSPATPAFKSLEAFFLYGRLYEFWWSLSRPCPNSSVWVRAGHRTLSVEPSQQLDT
ASTEETDPETSQPEPNRPSELDLRLTEEGERMLSTFKELFSEKHASLQNSQRTVAEVQET
LAEMIRQHQKSQLCKSTANGPDKNEPEVEAEQPLCSSQSQCKEEKNEPLSLPELTKRLTE
ANQRMAKFPESIKAWPFPDVLECCLVLLLIRSHFPGCLAQEMQQQAQELLQKYGNTKTYR
RHCQTFCM

Sequence length

1508

Interactions

View interactions

	Reactome
			snRNP Assembly

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)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
GEMIN5-related disorder	Likely pathogenic	rs1763488906, rs760029026, rs762138120, rs200680023, rs1763176914	RCV001553581 RCV004579578 RCV004550633 RCV004550719 RCV001192634	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GEMIN5-related neurodevelopmental disorder	Likely pathogenic	rs760029026	RCV001795608	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	Pathogenic; Likely pathogenic	rs2113468939, rs2113459584, rs2113491837, rs2113520828, rs2113452099, rs1763459819, rs760029026, rs1348407784, rs2481034065, rs371174241, rs2481048975, rs200680023	RCV001449902 RCV001449903 RCV001449904 RCV001449905 RCV001449906 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential tremor	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (12)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Atrophy	Atrophy	Pubtator	36980979	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	36980979, 37369805	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coenzyme Q10 Deficiency	Coenzyme q10 deficiency	Pubtator	38316953	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35393353, 36980979, 37369805	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	36980979	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	38316953	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	36980979, 37369805	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35859008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	37369805	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18245461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	37369805	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30689188		★★★★★ ★☆☆☆☆ Found in Text Mining only

GEMIN5 (gem nuclear organelle associated protein 5)