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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	26058
Gene name	GRB10 interacting GYF protein 2
Gene symbol	GIGYF2
Synonyms (NCBI Gene)	GYF2PARK11PERQ2PERQ3TNRC15
Chromosome	2
Chromosome location	2q37.1
Summary	This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal r

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs72554080	A>G	Risk-factor	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs115735611	A>C,G	Risk-factor	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs116074753	A>C,G	Risk-factor	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs118203903	C>G	Risk-factor	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs118203904	A>G	Risk-factor	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs748538823	C>G,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant

232

Show/Hide all (232)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025437	hsa-miR-34a-5p	Proteomics	21566225
MIRT025437	hsa-miR-34a-5p	Proteomics	21566225
MIRT025437	hsa-miR-34a-5p	Proteomics	21566225
MIRT040997	hsa-miR-505-3p	CLASH	23622248
MIRT037901	hsa-miR-455-3p	CLASH	23622248
MIRT528326	hsa-miR-3667-5p	PAR-CLIP	22012620
MIRT528325	hsa-miR-4457	PAR-CLIP	22012620
MIRT528324	hsa-miR-125b-2-3p	PAR-CLIP	22012620
MIRT528323	hsa-miR-454-5p	PAR-CLIP	22012620
MIRT528322	hsa-miR-519d-5p	PAR-CLIP	22012620
MIRT528321	hsa-miR-5695	PAR-CLIP	22012620
MIRT528320	hsa-miR-5189-3p	PAR-CLIP	22012620
MIRT528318	hsa-miR-513b-5p	PAR-CLIP	22012620
MIRT528319	hsa-miR-515-5p	PAR-CLIP	22012620
MIRT528317	hsa-miR-519e-5p	PAR-CLIP	22012620
MIRT528326	hsa-miR-3667-5p	PAR-CLIP	22012620
MIRT528325	hsa-miR-4457	PAR-CLIP	22012620
MIRT528324	hsa-miR-125b-2-3p	PAR-CLIP	22012620
MIRT528323	hsa-miR-454-5p	PAR-CLIP	22012620
MIRT528322	hsa-miR-519d-5p	PAR-CLIP	22012620
MIRT528321	hsa-miR-5695	PAR-CLIP	22012620
MIRT528320	hsa-miR-5189-3p	PAR-CLIP	22012620
MIRT528318	hsa-miR-513b-5p	PAR-CLIP	22012620
MIRT528319	hsa-miR-515-5p	PAR-CLIP	22012620
MIRT528317	hsa-miR-519e-5p	PAR-CLIP	22012620
MIRT1018768	hsa-miR-1231	CLIP-seq
MIRT1018769	hsa-miR-1238	CLIP-seq
MIRT1018770	hsa-miR-130a	CLIP-seq
MIRT1018771	hsa-miR-130b	CLIP-seq
MIRT1018772	hsa-miR-1321	CLIP-seq
MIRT1018773	hsa-miR-136	CLIP-seq
MIRT1018774	hsa-miR-1915	CLIP-seq
MIRT1018775	hsa-miR-199a-5p	CLIP-seq
MIRT1018776	hsa-miR-199b-5p	CLIP-seq
MIRT1018777	hsa-miR-217	CLIP-seq
MIRT1018778	hsa-miR-22	CLIP-seq
MIRT1018779	hsa-miR-298	CLIP-seq
MIRT1018780	hsa-miR-300	CLIP-seq
MIRT1018781	hsa-miR-301a	CLIP-seq
MIRT1018782	hsa-miR-301b	CLIP-seq
MIRT1018783	hsa-miR-3115	CLIP-seq
MIRT1018784	hsa-miR-3128	CLIP-seq
MIRT1018785	hsa-miR-3130-5p	CLIP-seq
MIRT1018786	hsa-miR-3145-5p	CLIP-seq
MIRT1018787	hsa-miR-3148	CLIP-seq
MIRT1018788	hsa-miR-3153	CLIP-seq
MIRT1018789	hsa-miR-3154	CLIP-seq
MIRT1018790	hsa-miR-324-5p	CLIP-seq
MIRT1018791	hsa-miR-3591-5p	CLIP-seq
MIRT1018792	hsa-miR-3655	CLIP-seq
MIRT1018793	hsa-miR-3666	CLIP-seq
MIRT1018794	hsa-miR-3674	CLIP-seq
MIRT1018795	hsa-miR-3688-5p	CLIP-seq
MIRT1018796	hsa-miR-381	CLIP-seq
MIRT1018797	hsa-miR-3928	CLIP-seq
MIRT1018798	hsa-miR-3941	CLIP-seq
MIRT1018799	hsa-miR-4269	CLIP-seq
MIRT1018800	hsa-miR-4274	CLIP-seq
MIRT1018801	hsa-miR-4288	CLIP-seq
MIRT1018802	hsa-miR-4295	CLIP-seq
MIRT1018803	hsa-miR-4302	CLIP-seq
MIRT1018804	hsa-miR-431	CLIP-seq
MIRT1018805	hsa-miR-4328	CLIP-seq
MIRT1018806	hsa-miR-4470	CLIP-seq
MIRT1018807	hsa-miR-4473	CLIP-seq
MIRT1018808	hsa-miR-4481	CLIP-seq
MIRT1018809	hsa-miR-4482	CLIP-seq
MIRT1018810	hsa-miR-4519	CLIP-seq
MIRT1018811	hsa-miR-454	CLIP-seq
MIRT1018812	hsa-miR-4643	CLIP-seq
MIRT1018813	hsa-miR-466	CLIP-seq
MIRT1018814	hsa-miR-4666-3p	CLIP-seq
MIRT1018815	hsa-miR-4668-5p	CLIP-seq
MIRT1018816	hsa-miR-4671-3p	CLIP-seq
MIRT1018817	hsa-miR-4672	CLIP-seq
MIRT1018818	hsa-miR-4690-3p	CLIP-seq
MIRT1018819	hsa-miR-4691-5p	CLIP-seq
MIRT1018820	hsa-miR-4726-3p	CLIP-seq
MIRT1018821	hsa-miR-4728-5p	CLIP-seq
MIRT1018822	hsa-miR-4739	CLIP-seq
MIRT1018823	hsa-miR-4742-3p	CLIP-seq
MIRT1018824	hsa-miR-4745-5p	CLIP-seq
MIRT1018825	hsa-miR-4756-5p	CLIP-seq
MIRT1018826	hsa-miR-4758-5p	CLIP-seq
MIRT1018827	hsa-miR-4789-3p	CLIP-seq
MIRT1018828	hsa-miR-495	CLIP-seq
MIRT1018829	hsa-miR-512-5p	CLIP-seq
MIRT1018830	hsa-miR-543	CLIP-seq
MIRT1018831	hsa-miR-548ae	CLIP-seq
MIRT1018832	hsa-miR-548aj	CLIP-seq
MIRT1018833	hsa-miR-548am	CLIP-seq
MIRT1018834	hsa-miR-548c-3p	CLIP-seq
MIRT1018835	hsa-miR-548g	CLIP-seq
MIRT1018836	hsa-miR-548x	CLIP-seq
MIRT1018837	hsa-miR-556-3p	CLIP-seq
MIRT1018838	hsa-miR-593	CLIP-seq
MIRT1018839	hsa-miR-632	CLIP-seq
MIRT1018840	hsa-miR-640	CLIP-seq
MIRT1018841	hsa-miR-766	CLIP-seq
MIRT1018842	hsa-miR-1258	CLIP-seq
MIRT1018843	hsa-miR-150	CLIP-seq
MIRT1018774	hsa-miR-1915	CLIP-seq
MIRT1018844	hsa-miR-194	CLIP-seq
MIRT1018845	hsa-miR-1972	CLIP-seq
MIRT1018846	hsa-miR-2355-3p	CLIP-seq
MIRT1018847	hsa-miR-3121-5p	CLIP-seq
MIRT1018848	hsa-miR-3653	CLIP-seq
MIRT1018849	hsa-miR-3658	CLIP-seq
MIRT1018850	hsa-miR-3978	CLIP-seq
MIRT1018851	hsa-miR-4266	CLIP-seq
MIRT1018852	hsa-miR-4474-5p	CLIP-seq
MIRT1018853	hsa-miR-4646-3p	CLIP-seq
MIRT1018854	hsa-miR-4713-5p	CLIP-seq
MIRT1018820	hsa-miR-4726-3p	CLIP-seq
MIRT1018855	hsa-miR-516a-3p	CLIP-seq
MIRT1018856	hsa-miR-532-3p	CLIP-seq
MIRT1018857	hsa-miR-1255a	CLIP-seq
MIRT1018858	hsa-miR-1255b	CLIP-seq
MIRT1018842	hsa-miR-1258	CLIP-seq
MIRT1018859	hsa-miR-1285	CLIP-seq
MIRT1018860	hsa-miR-1908	CLIP-seq
MIRT1018861	hsa-miR-3121-3p	CLIP-seq
MIRT1018862	hsa-miR-3187-5p	CLIP-seq
MIRT1018863	hsa-miR-340	CLIP-seq
MIRT1018864	hsa-miR-3614-3p	CLIP-seq
MIRT1018865	hsa-miR-3909	CLIP-seq
MIRT1018866	hsa-miR-3922-5p	CLIP-seq
MIRT1018850	hsa-miR-3978	CLIP-seq
MIRT1018867	hsa-miR-411	CLIP-seq
MIRT1018851	hsa-miR-4266	CLIP-seq
MIRT1018868	hsa-miR-4330	CLIP-seq
MIRT1018869	hsa-miR-4511	CLIP-seq
MIRT1018870	hsa-miR-4540	CLIP-seq
MIRT1018871	hsa-miR-4698	CLIP-seq
MIRT1018872	hsa-miR-4723-5p	CLIP-seq
MIRT1018821	hsa-miR-4728-5p	CLIP-seq
MIRT1018873	hsa-miR-4733-5p	CLIP-seq
MIRT1018874	hsa-miR-4786-5p	CLIP-seq
MIRT1018875	hsa-miR-490-5p	CLIP-seq
MIRT1018876	hsa-miR-493	CLIP-seq
MIRT1018877	hsa-miR-508-5p	CLIP-seq
MIRT1018878	hsa-miR-522	CLIP-seq
MIRT1018879	hsa-miR-548b-3p	CLIP-seq
MIRT1018880	hsa-miR-548l	CLIP-seq
MIRT1018881	hsa-miR-548n	CLIP-seq
MIRT1018882	hsa-miR-554	CLIP-seq
MIRT1018883	hsa-miR-612	CLIP-seq
MIRT1018884	hsa-miR-661	CLIP-seq
MIRT1018885	hsa-miR-663	CLIP-seq
MIRT1018841	hsa-miR-766	CLIP-seq
MIRT1018886	hsa-miR-769-5p	CLIP-seq
MIRT1018789	hsa-miR-3154	CLIP-seq
MIRT1018821	hsa-miR-4728-5p	CLIP-seq
MIRT1018789	hsa-miR-3154	CLIP-seq
MIRT2001674	hsa-miR-3942-3p	CLIP-seq
MIRT1018789	hsa-miR-3154	CLIP-seq
MIRT1018873	hsa-miR-4733-5p	CLIP-seq
MIRT2234744	hsa-miR-1273f	CLIP-seq
MIRT2234745	hsa-miR-143	CLIP-seq
MIRT2234746	hsa-miR-1827	CLIP-seq
MIRT1018784	hsa-miR-3128	CLIP-seq
MIRT1018789	hsa-miR-3154	CLIP-seq
MIRT1018806	hsa-miR-4470	CLIP-seq
MIRT1018870	hsa-miR-4540	CLIP-seq
MIRT1018819	hsa-miR-4691-5p	CLIP-seq
MIRT2234747	hsa-miR-4708-5p	CLIP-seq
MIRT1018821	hsa-miR-4728-5p	CLIP-seq
MIRT2234748	hsa-miR-4770	CLIP-seq
MIRT1018769	hsa-miR-1238	CLIP-seq
MIRT2234749	hsa-miR-128	CLIP-seq
MIRT1018774	hsa-miR-1915	CLIP-seq
MIRT2234750	hsa-miR-4312	CLIP-seq
MIRT1018814	hsa-miR-4666-3p	CLIP-seq
MIRT1018819	hsa-miR-4691-5p	CLIP-seq
MIRT1018823	hsa-miR-4742-3p	CLIP-seq
MIRT1018841	hsa-miR-766	CLIP-seq
MIRT2388446	hsa-miR-23a	CLIP-seq
MIRT2388447	hsa-miR-23b	CLIP-seq
MIRT2388448	hsa-miR-23c	CLIP-seq
MIRT2538711	hsa-miR-1246	CLIP-seq
MIRT2234744	hsa-miR-1273f	CLIP-seq
MIRT2234745	hsa-miR-143	CLIP-seq
MIRT2538712	hsa-miR-186	CLIP-seq
MIRT2538713	hsa-miR-18a	CLIP-seq
MIRT2538714	hsa-miR-18b	CLIP-seq
MIRT2538715	hsa-miR-197	CLIP-seq
MIRT2538716	hsa-miR-3065-5p	CLIP-seq
MIRT2538717	hsa-miR-3133	CLIP-seq
MIRT2538718	hsa-miR-3140-3p	CLIP-seq
MIRT2538719	hsa-miR-3180-5p	CLIP-seq
MIRT2538720	hsa-miR-4251	CLIP-seq
MIRT2538721	hsa-miR-4293	CLIP-seq
MIRT2538722	hsa-miR-432	CLIP-seq
MIRT2538723	hsa-miR-4324	CLIP-seq
MIRT2538724	hsa-miR-4329	CLIP-seq
MIRT2538725	hsa-miR-4436b-5p	CLIP-seq
MIRT2538726	hsa-miR-4514	CLIP-seq
MIRT2538727	hsa-miR-4520a-3p	CLIP-seq
MIRT2538728	hsa-miR-4520b-3p	CLIP-seq
MIRT2538729	hsa-miR-4640-5p	CLIP-seq
MIRT2538730	hsa-miR-4685-5p	CLIP-seq
MIRT2538731	hsa-miR-4692	CLIP-seq
MIRT2538732	hsa-miR-4694-3p	CLIP-seq
MIRT2234747	hsa-miR-4708-5p	CLIP-seq
MIRT2538733	hsa-miR-4715-3p	CLIP-seq
MIRT2538734	hsa-miR-4726-5p	CLIP-seq
MIRT2538735	hsa-miR-4735-3p	CLIP-seq
MIRT2234748	hsa-miR-4770	CLIP-seq
MIRT2538736	hsa-miR-545	CLIP-seq
MIRT2234744	hsa-miR-1273f	CLIP-seq
MIRT2234745	hsa-miR-143	CLIP-seq
MIRT2234747	hsa-miR-4708-5p	CLIP-seq
MIRT2234748	hsa-miR-4770	CLIP-seq
MIRT2538711	hsa-miR-1246	CLIP-seq
MIRT2234744	hsa-miR-1273f	CLIP-seq
MIRT2234745	hsa-miR-143	CLIP-seq
MIRT2538712	hsa-miR-186	CLIP-seq
MIRT2538715	hsa-miR-197	CLIP-seq
MIRT2538716	hsa-miR-3065-5p	CLIP-seq
MIRT2538717	hsa-miR-3133	CLIP-seq
MIRT2538720	hsa-miR-4251	CLIP-seq
MIRT2538722	hsa-miR-432	CLIP-seq
MIRT2538724	hsa-miR-4329	CLIP-seq
MIRT2538725	hsa-miR-4436b-5p	CLIP-seq
MIRT2538727	hsa-miR-4520a-3p	CLIP-seq
MIRT2538728	hsa-miR-4520b-3p	CLIP-seq
MIRT2538729	hsa-miR-4640-5p	CLIP-seq
MIRT2538732	hsa-miR-4694-3p	CLIP-seq
MIRT2234747	hsa-miR-4708-5p	CLIP-seq
MIRT2538733	hsa-miR-4715-3p	CLIP-seq
MIRT2538734	hsa-miR-4726-5p	CLIP-seq
MIRT2234748	hsa-miR-4770	CLIP-seq

Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22681889
GO:0005515	Function	Protein binding	IPI	15161933, 20670374, 20696395, 20878056, 27157137, 28698298, 31439631, 33053355, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IDA	20670374
GO:0005783	Component	Endoplasmic reticulum	IDA	20696395
GO:0005794	Component	Golgi apparatus	IDA	20696395
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0007631	Process	Feeding behavior	IEA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0010494	Component	Cytoplasmic stress granule	IDA	20696395
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016441	Process	Post-transcriptional gene silencing	IDA	27157137
GO:0017148	Process	Negative regulation of translation	IMP	22751931
GO:0021522	Process	Spinal cord motor neuron differentiation	IEA
GO:0031571	Process	Mitotic G1 DNA damage checkpoint signaling	IEA
GO:0031982	Component	Vesicle	IBA
GO:0031982	Component	Vesicle	IEA
GO:0032991	Component	Protein-containing complex	IDA	20878056
GO:0035264	Process	Multicellular organism growth	IEA
GO:0043204	Component	Perikaryon	IBA
GO:0043204	Component	Perikaryon	IDA	20670374
GO:0043204	Component	Perikaryon	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045947	Process	Negative regulation of translational initiation	IDA	32726578
GO:0045947	Process	Negative regulation of translational initiation	IDA	32726578, 35878012
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	IBA
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	IEA
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	IMP	20670374
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0050881	Process	Musculoskeletal movement	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0060090	Function	Molecular adaptor activity	IDA	32726578, 35878012
GO:0060339	Process	Negative regulation of type I interferon-mediated signaling pathway	IDA	35878012
GO:0061157	Process	MRNA destabilization	IDA	27157137
GO:0070064	Function	Proline-rich region binding	IDA	20696395
GO:0072344	Process	Rescue of stalled ribosome	IDA	32726578
GO:0072344	Process	Rescue of stalled ribosome	IDA	32726578
GO:1990635	Component	Proximal dendrite	IBA
GO:1990635	Component	Proximal dendrite	IDA	20670374
GO:1990635	Component	Proximal dendrite	IEA

MIM	HGNC	e!Ensembl
612003	11960	ENSG00000204120

Q6Y7W6

Protein name

GRB10-interacting GYF protein 2 (PERQ amino acid-rich with GYF domain-containing protein 2) (Trinucleotide repeat-containing gene 15 protein)

Protein function

Key component of the 4EHP-GYF2 complex, a multiprotein complex that acts as a repressor of translation initiation (PubMed:22751931, PubMed:31439631, PubMed:35878012). In the 4EHP-GYF2 complex, acts as a factor that bridges EIF4E2 to ZFP36/TTP, l

PDB

5NVL , 5NVM , 7RUP

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02213	GYF	536 → 580	GYF domain	Domain

Sequence

MAAETQTLNFGPEWLRALSSGGSITSPPLSPALPKYKLADYRYGREEMLALFLKDNKIPS
DLLDKEFLPILQEEPLPPLALVPFTEEEQRNFSMSVNSAAVLRLTGRGGGGTVVGAPRGR
SSSRGRGRGRGECGFYQRSFDEVEGVFGRGGGREMHRSQSWEERGDRRFEKPGRKDVGRP
NFEEGGPTSVGRKHEFIRSESENWRIFREEQNGEDEDGGWRLAGSRRDGERWRPHSPDGP
RSAGWREHMERRRRFEFDFRDRDDERGYRRVRSGSGSIDDDRDSLPEWCLEDAEEEMGTF
DSSGAFLSLKKVQKEPIPEEQEMDFRPVDEGEECSDSEGSHNEEAKEPDKTNKKEGEKTD
RVGVEASEETPQTSSSSARPGTPSDHQSQEASQFERKDEPKTEQTEKAEEETRMENSLPA
KVPSRGDEMVADVQQPLSQIPSDTASPLLILPPPVPNPSPTLRPVETPVVGAPGMGSVST
EPDDEEGLKHLEQQAEKMVAYLQDSALDDERLASKLQEHRAKGVSIPLMHEAMQKWYYKD
PQGEIQGPFNNQEMAEWFQAGYFTMSLLVKRACDESFQPLGDIMKMWGRVPFSPGPAPPP
HMGELDQERLTRQQELTALYQMQHLQYQQFLIQQQYAQVLAQQQKAALSSQQQQQLALLL
QQFQTLKMRISDQNIIPSVTRSVSVPDTGSIWELQPTASQPTVWEGGSVWDLPLDTTTPG
PALEQLQQLEKAKAAKLEQERREAEMRAKREEEERKRQEELRRQQEEILRRQQEEERKRR
EEEELARRKQEEALRRQREQEIALRRQREEEERQQQEEALRRLEERRREEEERRKQEELL
RKQEEEAAKWAREEEEAQRRLEENRLRMEEEAARLRHEEEERKRKELEVQRQKELMRQRQ
QQQEALRRLQQQQQQQQLAQMKLPSSSTWGQQSNTTACQSQATLSLAEIQKLEEERERQL
REEQRRQQRELMKALQQQQQQQQQKLSGWGNVSKPSGTTKSLLEIQQEEARQMQKQQQQQ
QQHQQPNRARNNTHSNLHTSIGNSVWGSINTGPPNQWASDLVSSIWSNADTKNSNMGFWD
DAVKEVGPRNSTNKNKNNASLSKSVGVSNRQNKKVEEEEKLLKLFQGVNKAQDGFTQWCE
QMLHALNTANNLDVPTFVSFLKEVESPYEVHDYIRAYLGDTSEAKEFAKQFLERRAKQKA
NQQRQQQQLPQQQQQQPPQQPPQQPQQQDSVWGMNHSTLHSVFQTNQSNNQQSNFEAVQS
GKKKKKQKMVRADPSLLGFSVNASSERLNMGEIETLDDY

Sequence length

1299

Interactions

View interactions

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Uncertain significance; Benign	rs72554081, rs2305137	RCV005936931 RCV005900071
Gastric cancer	Uncertain significance	rs72554081	RCV005936933
GIGYF2-related disorder	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs751210729, rs2289912, rs72554080, rs200754933, rs760666722, rs763368000, rs74560358, rs1405338572, rs34845648, rs148277228, rs2469969783, rs374831276, rs72554081, rs747695811, rs114460769 View all (12 more)	RCV003913336 RCV003968516 RCV004755694 RCV003420414 RCV003410577 RCV003919165 RCV003921403 RCV003896621 RCV003919640 RCV003981599 RCV003893629 RCV003911791 RCV003914242 RCV003977073 RCV003911393 RCV003933928 RCV003941924 RCV003944184 RCV003961733 RCV003907276 RCV003919522 RCV003931792 RCV003941504 RCV003924735 RCV003934157 RCV003981934 RCV003983694
Hepatocellular carcinoma	Benign	rs2305137	RCV005900072
Parkinson disease 11, autosomal dominant, susceptibility to	Uncertain significance; Likely benign; risk factor; Conflicting classifications of pathogenicity; Benign	rs1700885234, rs72554080, rs116074753, rs118203903, rs118203904, rs115735611, rs748538823, rs115263050, rs371622656, rs3816334, rs2305137, rs10555297, rs12328151, rs6437074, rs2305138, rs1327472255 View all (1 more)	RCV001331630 RCV000000789 RCV000000790 RCV000000791 RCV000000792 RCV000000793 RCV000198246 RCV005400567 RCV000625223 RCV000613042 RCV000600557 RCV000607691 RCV000612861 RCV000602563 RCV000625222 RCV001198792
See cases	Uncertain significance	rs369380236, rs776898936	RCV002252992 RCV002253183
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs72554081	RCV005936934
Uveal melanoma	Uncertain significance	rs72554081	RCV005936932

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arrest of spermatogenesis	Associate	32614269
Autism Spectrum Disorder	Associate	27824329
Autistic Disorder	Associate	27824329, 30564305
Carcinoma Renal Cell	Associate	31098421
Cognition Disorders	Associate	26134514
Coronary Artery Disease	Associate	28209224
COVID 19	Associate	35878012
Heredodegenerative Disorders Nervous System	Associate	30235682
Hypertension Pulmonary	Associate	37730603
Infertility	Associate	32614269
Infertility Male	Associate	32614269
Megalencephaly	Associate	30564305
Neoplasms Cystic Mucinous and Serous	Associate	31098421
Neurologic Manifestations	Associate	33053355
Parkinson Disease	Associate	16252231, 18358451, 18923002, 26134514, 28873462, 32870915
Parkinson Disease Familial Type 1	Associate	18358451, 27861377
Parkinson Disease Secondary	Associate	27861377
Pulmonary Arterial Hypertension	Associate	37730603
Smoke Inhalation Injury	Associate	32614269

GIGYF2 (GRB10 interacting GYF protein 2)