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

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 Unknown Diseases (27)

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.
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GIGYF2-related disorder	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY LATE-ONSET PARKINSON DISEASE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEBER CONGENITAL AMAUROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEBER CONGENITAL AMAUROSIS 16	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASAL CAVITY POLYP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 11	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson disease 11, autosomal dominant, susceptibility to	Uncertain significance; Likely benign; risk factor; Conflicting classifications of pathogenicity; Benign	ClinVar ClinVar, GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (37)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Akinesia	Akinesia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	GWASCAT_DG	31116379		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	27824329	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	27824329, 30564305	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19724902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31098421	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	26134514	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28209224		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	28209224	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary late-onset Parkinson disease	Hereditary Parkinson`s Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	37730603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	26134514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	32614269	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	32614269	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber Congenital Amaurosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEBER CONGENITAL AMAUROSIS 16	Leber Congenital Amaurosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	19724902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	26965686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	15523496, 16252231, 18358451, 18923002, 19250854, 19279319, 19321232, 19348706, 19429085, 19449032, 19482505, 19638301, 19744960, 19845746, 20004041 View all (10 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	16252231, 18358451, 18923002, 26134514, 28873462, 32870915	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	LHGDN	18358451		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	27861377	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	19321232, 19638301, 26134514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	37730603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	25056061, 28540026, 29483656, 31374203		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Snowflake vitreoretinal degeneration	Snowflake vitreoretinal degeneration	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

GIGYF2 (GRB10 interacting GYF protein 2)