GFM1 (G elongation factor mitochondrial 1)

Gene

• Entrez ID: 85476
• Gene name: G elongation factor mitochondrial 1
• Gene symbol: GFM1
• Synonyms (NCBI Gene): COXPD1, EFG, EFG1, EFGM, EGF1, GFM, hEFG1, mtEF-G1
• Chromosome: 3
• Chromosome location: 3q25.32
• Summary: Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-o

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs62286651	C>A,T	Pathogenic, likely-benign	Stop gained, coding sequence variant, synonymous variant, non coding transcript variant, 5 prime UTR variant
rs119470018	A>G	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs119470019	C>T	Pathogenic	5 prime UTR variant, stop gained, non coding transcript variant, coding sequence variant
rs119470020	T>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs139430866	C>T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs191462023	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs201408725	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs369399450	C>A,G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs375512235	A>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs544389920	C>T	Likely-pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant
rs745718158	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs751069628	G>A	Likely-benign, likely-pathogenic	Intron variant
rs752037355	->GATT	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained
rs752400894	AA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs754435236	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs762576741	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant, intron variant
rs765266988	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs766234016	C>G,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant, missense variant
rs774456344	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs779877297	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs780319278	A>C,T	Likely-pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs863224030	G>A	Pathogenic	Missense variant, initiator codon variant, non coding transcript variant, 5 prime UTR variant
rs863224032	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs863224033	C>-	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant
rs866604517	GACA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886058120	G>-	Pathogenic, uncertain-significance	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant
rs1174797887	->CCCT	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1362847020	G>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1553847587	A>C	Likely-pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs1576721522	A>T	Pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs1576723006	->A	Pathogenic	Frameshift variant, intron variant, coding sequence variant, non coding transcript variant
rs1576745248	CATCTATAACAC>-	Pathogenic	Intron variant, inframe deletion, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001465	hsa-miR-16-5p	pSILAC	18668040
MIRT001465	hsa-miR-16-5p	Proteomics;Other	18668040
MIRT1016662	hsa-miR-1179	CLIP-seq
MIRT1016663	hsa-miR-1182	CLIP-seq
MIRT1016664	hsa-miR-1343	CLIP-seq
MIRT1016665	hsa-miR-181a	CLIP-seq
MIRT1016666	hsa-miR-181b	CLIP-seq
MIRT1016667	hsa-miR-181c	CLIP-seq
MIRT1016668	hsa-miR-181d	CLIP-seq
MIRT1016669	hsa-miR-1827	CLIP-seq
MIRT1016670	hsa-miR-200b	CLIP-seq
MIRT1016671	hsa-miR-200c	CLIP-seq
MIRT1016672	hsa-miR-205	CLIP-seq
MIRT1016673	hsa-miR-214	CLIP-seq
MIRT1016674	hsa-miR-216a	CLIP-seq
MIRT1016675	hsa-miR-216b	CLIP-seq
MIRT1016676	hsa-miR-24	CLIP-seq
MIRT1016677	hsa-miR-2682	CLIP-seq
MIRT1016678	hsa-miR-3117-5p	CLIP-seq
MIRT1016679	hsa-miR-3140-5p	CLIP-seq
MIRT1016680	hsa-miR-3145-5p	CLIP-seq
MIRT1016681	hsa-miR-3185	CLIP-seq
MIRT1016682	hsa-miR-338-5p	CLIP-seq
MIRT1016683	hsa-miR-3619-5p	CLIP-seq
MIRT1016684	hsa-miR-3671	CLIP-seq
MIRT1016685	hsa-miR-3682-5p	CLIP-seq
MIRT1016686	hsa-miR-376c	CLIP-seq
MIRT1016687	hsa-miR-378g	CLIP-seq
MIRT1016688	hsa-miR-410	CLIP-seq
MIRT1016689	hsa-miR-425	CLIP-seq
MIRT1016690	hsa-miR-4262	CLIP-seq
MIRT1016691	hsa-miR-4263	CLIP-seq
MIRT1016692	hsa-miR-4264	CLIP-seq
MIRT1016693	hsa-miR-4276	CLIP-seq
MIRT1016694	hsa-miR-429	CLIP-seq
MIRT1016695	hsa-miR-4291	CLIP-seq
MIRT1016696	hsa-miR-4293	CLIP-seq
MIRT1016697	hsa-miR-433	CLIP-seq
MIRT1016698	hsa-miR-4436b-5p	CLIP-seq
MIRT1016699	hsa-miR-4437	CLIP-seq
MIRT1016700	hsa-miR-4457	CLIP-seq
MIRT1016701	hsa-miR-449c	CLIP-seq
MIRT1016702	hsa-miR-4639-3p	CLIP-seq
MIRT1016703	hsa-miR-4646-3p	CLIP-seq
MIRT1016704	hsa-miR-4666-3p	CLIP-seq
MIRT1016705	hsa-miR-4674	CLIP-seq
MIRT1016706	hsa-miR-4680-3p	CLIP-seq
MIRT1016707	hsa-miR-4708-3p	CLIP-seq
MIRT1016708	hsa-miR-4709-3p	CLIP-seq
MIRT1016709	hsa-miR-4718	CLIP-seq
MIRT1016710	hsa-miR-4724-3p	CLIP-seq
MIRT1016711	hsa-miR-4733-5p	CLIP-seq
MIRT1016712	hsa-miR-4766-5p	CLIP-seq
MIRT1016713	hsa-miR-4797-3p	CLIP-seq
MIRT1016714	hsa-miR-513b	CLIP-seq
MIRT1016715	hsa-miR-516a-3p	CLIP-seq
MIRT1016716	hsa-miR-520d-5p	CLIP-seq
MIRT1016717	hsa-miR-524-5p	CLIP-seq
MIRT1016718	hsa-miR-548l	CLIP-seq
MIRT1016719	hsa-miR-548n	CLIP-seq
MIRT1016720	hsa-miR-548t	CLIP-seq
MIRT1016721	hsa-miR-578	CLIP-seq
MIRT1016722	hsa-miR-607	CLIP-seq
MIRT1016723	hsa-miR-664	CLIP-seq
MIRT1016724	hsa-miR-761	CLIP-seq
MIRT1016725	hsa-miR-889	CLIP-seq
MIRT1016726	hsa-miR-922	CLIP-seq
MIRT1016727	hsa-miR-934	CLIP-seq
MIRT1016728	hsa-miR-935	CLIP-seq
MIRT1016679	hsa-miR-3140-5p	CLIP-seq
MIRT2000939	hsa-miR-3163	CLIP-seq
MIRT1016688	hsa-miR-410	CLIP-seq
MIRT2000940	hsa-miR-539	CLIP-seq
MIRT1016663	hsa-miR-1182	CLIP-seq
MIRT2234367	hsa-miR-1323	CLIP-seq
MIRT1016665	hsa-miR-181a	CLIP-seq
MIRT1016666	hsa-miR-181b	CLIP-seq
MIRT1016667	hsa-miR-181c	CLIP-seq
MIRT1016668	hsa-miR-181d	CLIP-seq
MIRT1016669	hsa-miR-1827	CLIP-seq
MIRT1016670	hsa-miR-200b	CLIP-seq
MIRT1016671	hsa-miR-200c	CLIP-seq
MIRT1016672	hsa-miR-205	CLIP-seq
MIRT1016673	hsa-miR-214	CLIP-seq
MIRT1016674	hsa-miR-216a	CLIP-seq
MIRT1016675	hsa-miR-216b	CLIP-seq
MIRT2234368	hsa-miR-2355-3p	CLIP-seq
MIRT1016677	hsa-miR-2682	CLIP-seq
MIRT1016679	hsa-miR-3140-5p	CLIP-seq
MIRT2234369	hsa-miR-3143	CLIP-seq
MIRT1016683	hsa-miR-3619-5p	CLIP-seq
MIRT1016685	hsa-miR-3682-5p	CLIP-seq
MIRT2234370	hsa-miR-3973	CLIP-seq
MIRT2234371	hsa-miR-421	CLIP-seq
MIRT1016690	hsa-miR-4262	CLIP-seq
MIRT2234372	hsa-miR-4275	CLIP-seq
MIRT1016694	hsa-miR-429	CLIP-seq
MIRT1016695	hsa-miR-4291	CLIP-seq
MIRT1016696	hsa-miR-4293	CLIP-seq
MIRT1016698	hsa-miR-4436b-5p	CLIP-seq
MIRT1016700	hsa-miR-4457	CLIP-seq
MIRT1016701	hsa-miR-449c	CLIP-seq
MIRT2234373	hsa-miR-4641	CLIP-seq
MIRT1016703	hsa-miR-4646-3p	CLIP-seq
MIRT1016706	hsa-miR-4680-3p	CLIP-seq
MIRT1016707	hsa-miR-4708-3p	CLIP-seq
MIRT2234374	hsa-miR-4709-5p	CLIP-seq
MIRT2234375	hsa-miR-4763-5p	CLIP-seq
MIRT1016714	hsa-miR-513b	CLIP-seq
MIRT1016716	hsa-miR-520d-5p	CLIP-seq
MIRT2234376	hsa-miR-520g	CLIP-seq
MIRT2234377	hsa-miR-520h	CLIP-seq
MIRT1016717	hsa-miR-524-5p	CLIP-seq
MIRT2234378	hsa-miR-543	CLIP-seq
MIRT2234379	hsa-miR-548aa	CLIP-seq
MIRT1016718	hsa-miR-548l	CLIP-seq
MIRT2234380	hsa-miR-548o	CLIP-seq
MIRT1016721	hsa-miR-578	CLIP-seq
MIRT2234381	hsa-miR-596	CLIP-seq
MIRT1016724	hsa-miR-761	CLIP-seq
MIRT1016726	hsa-miR-922	CLIP-seq
MIRT1016727	hsa-miR-934	CLIP-seq
MIRT1016728	hsa-miR-935	CLIP-seq
MIRT2388418	hsa-miR-3127-3p	CLIP-seq
MIRT2388419	hsa-miR-3679-3p	CLIP-seq
MIRT2388420	hsa-miR-4446-5p	CLIP-seq
MIRT2388421	hsa-miR-4474-5p	CLIP-seq
MIRT2388422	hsa-miR-4753-3p	CLIP-seq
MIRT2538403	hsa-miR-1185	CLIP-seq
MIRT2538404	hsa-miR-1224-5p	CLIP-seq
MIRT2538405	hsa-miR-1264	CLIP-seq
MIRT2538406	hsa-miR-1273g	CLIP-seq
MIRT2538407	hsa-miR-1290	CLIP-seq
MIRT2538408	hsa-miR-1297	CLIP-seq
MIRT2538409	hsa-miR-1304	CLIP-seq
MIRT2538410	hsa-miR-1305	CLIP-seq
MIRT1016665	hsa-miR-181a	CLIP-seq
MIRT1016666	hsa-miR-181b	CLIP-seq
MIRT1016667	hsa-miR-181c	CLIP-seq
MIRT1016668	hsa-miR-181d	CLIP-seq
MIRT2538411	hsa-miR-26a	CLIP-seq
MIRT2538412	hsa-miR-26b	CLIP-seq
MIRT2538413	hsa-miR-299-3p	CLIP-seq
MIRT1016678	hsa-miR-3117-5p	CLIP-seq
MIRT2538414	hsa-miR-3121-3p	CLIP-seq
MIRT2388418	hsa-miR-3127-3p	CLIP-seq
MIRT1016680	hsa-miR-3145-5p	CLIP-seq
MIRT2538415	hsa-miR-33a	CLIP-seq
MIRT2538416	hsa-miR-33b	CLIP-seq
MIRT2538417	hsa-miR-3605-5p	CLIP-seq
MIRT2538418	hsa-miR-3646	CLIP-seq
MIRT2538419	hsa-miR-3672	CLIP-seq
MIRT2388419	hsa-miR-3679-3p	CLIP-seq
MIRT2538420	hsa-miR-3679-5p	CLIP-seq
MIRT2538421	hsa-miR-3688-3p	CLIP-seq
MIRT2538422	hsa-miR-3915	CLIP-seq
MIRT2538423	hsa-miR-3927	CLIP-seq
MIRT2538424	hsa-miR-3978	CLIP-seq
MIRT1016689	hsa-miR-425	CLIP-seq
MIRT1016690	hsa-miR-4262	CLIP-seq
MIRT2538425	hsa-miR-4282	CLIP-seq
MIRT1016695	hsa-miR-4291	CLIP-seq
MIRT1016697	hsa-miR-433	CLIP-seq
MIRT2388420	hsa-miR-4446-5p	CLIP-seq
MIRT2538426	hsa-miR-4465	CLIP-seq
MIRT2388421	hsa-miR-4474-5p	CLIP-seq
MIRT2538427	hsa-miR-4476	CLIP-seq
MIRT2538428	hsa-miR-4491	CLIP-seq
MIRT2538429	hsa-miR-4517	CLIP-seq
MIRT2538430	hsa-miR-4657	CLIP-seq
MIRT2538431	hsa-miR-4684-5p	CLIP-seq
MIRT2538432	hsa-miR-4689	CLIP-seq
MIRT2538433	hsa-miR-4712-3p	CLIP-seq
MIRT2388422	hsa-miR-4753-3p	CLIP-seq
MIRT2538434	hsa-miR-4768-5p	CLIP-seq
MIRT2538435	hsa-miR-4795-3p	CLIP-seq
MIRT2538436	hsa-miR-495	CLIP-seq
MIRT2538437	hsa-miR-498	CLIP-seq
MIRT2538438	hsa-miR-545	CLIP-seq
MIRT2538439	hsa-miR-548c-3p	CLIP-seq
MIRT1016718	hsa-miR-548l	CLIP-seq
MIRT2538440	hsa-miR-944	CLIP-seq
MIRT2538405	hsa-miR-1264	CLIP-seq
MIRT2538406	hsa-miR-1273g	CLIP-seq
MIRT2538408	hsa-miR-1297	CLIP-seq
MIRT1016665	hsa-miR-181a	CLIP-seq
MIRT1016666	hsa-miR-181b	CLIP-seq
MIRT1016667	hsa-miR-181c	CLIP-seq
MIRT1016668	hsa-miR-181d	CLIP-seq
MIRT2538411	hsa-miR-26a	CLIP-seq
MIRT2538412	hsa-miR-26b	CLIP-seq
MIRT2538413	hsa-miR-299-3p	CLIP-seq
MIRT1016678	hsa-miR-3117-5p	CLIP-seq
MIRT2538414	hsa-miR-3121-3p	CLIP-seq
MIRT2388418	hsa-miR-3127-3p	CLIP-seq
MIRT1016680	hsa-miR-3145-5p	CLIP-seq
MIRT2538418	hsa-miR-3646	CLIP-seq
MIRT2538419	hsa-miR-3672	CLIP-seq
MIRT2388419	hsa-miR-3679-3p	CLIP-seq
MIRT2538421	hsa-miR-3688-3p	CLIP-seq
MIRT2538423	hsa-miR-3927	CLIP-seq
MIRT2538424	hsa-miR-3978	CLIP-seq
MIRT1016689	hsa-miR-425	CLIP-seq
MIRT1016690	hsa-miR-4262	CLIP-seq
MIRT1016691	hsa-miR-4263	CLIP-seq
MIRT2538425	hsa-miR-4282	CLIP-seq
MIRT1016695	hsa-miR-4291	CLIP-seq
MIRT1016697	hsa-miR-433	CLIP-seq
MIRT2388420	hsa-miR-4446-5p	CLIP-seq
MIRT2538426	hsa-miR-4465	CLIP-seq
MIRT2388421	hsa-miR-4474-5p	CLIP-seq
MIRT2538427	hsa-miR-4476	CLIP-seq
MIRT2538428	hsa-miR-4491	CLIP-seq
MIRT2538429	hsa-miR-4517	CLIP-seq
MIRT2538430	hsa-miR-4657	CLIP-seq
MIRT2538433	hsa-miR-4712-3p	CLIP-seq
MIRT2388422	hsa-miR-4753-3p	CLIP-seq
MIRT2538435	hsa-miR-4795-3p	CLIP-seq
MIRT2538436	hsa-miR-495	CLIP-seq
MIRT2538437	hsa-miR-498	CLIP-seq
MIRT2538438	hsa-miR-545	CLIP-seq
MIRT2538439	hsa-miR-548c-3p	CLIP-seq
MIRT1016718	hsa-miR-548l	CLIP-seq
MIRT2538440	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003746	Function	Translation elongation factor activity	IBA
GO:0003746	Function	Translation elongation factor activity	IDA	19716793
GO:0003746	Function	Translation elongation factor activity	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IDA	19716793
GO:0003924	Function	GTPase activity	IEA
GO:0005515	Function	Protein binding	IPI	18157088, 28169297
GO:0005525	Function	GTP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006412	Process	Translation	IEA
GO:0006414	Process	Translational elongation	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0070125	Process	Mitochondrial translational elongation	IBA
GO:0070125	Process	Mitochondrial translational elongation	IDA	19716793
GO:0070125	Process	Mitochondrial translational elongation	IEA

Other IDs

• MIM: 606639
• HGNC: 13780
• e!Ensembl: ENSG00000168827

Protein

• UniProt ID: Q96RP9
• Protein name: Elongation factor G, mitochondrial (EF-Gmt) (EC 3.6.5.-) (Elongation factor G 1, mitochondrial) (mEF-G 1) (Elongation factor G1) (hEFG1)
• Protein function: Mitochondrial GTPase that catalyzes the GTP-dependent ribosomal translocation step during translation elongation. During this step, the ribosome changes from the pre-translocational (PRE) to the post-translocational (POST) state as the newly for
• PDB: 6VLZ, 6VMI, 6YDP, 6YDW, 7A5K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00009	GTP_EFTU	44 → 319	Elongation factor Tu GTP binding domain	Domain
  PF03144	GTP_EFTU_D2	366 → 432	Elongation factor Tu domain 2	Domain
  PF14492	EFG_III	446 → 520	Elongation Factor G, domain III	Domain
  PF03764	EFG_IV	521 → 642	Elongation factor G, domain IV	Domain
  PF00679	EFG_C	644 → 731	Elongation factor G C-terminus	Domain

• Sequence:

  MRLLGAAAVAALGRGRAPASLGWQRKQVNWKACRWSSSGVIPNEKIRNIGISAHIDSGKT
  TLTERVLYYTGRIAKMHEVKGKDGVGAVMDSMELERQRGITIQSAATYTMWKDVNINIID
  TPGHVDFTIEVERALRVLDGAVLVLCAVGGVQCQTMTVNRQMKRYNVPFLTFINKLDRMG
  SNPARALQQMRSKLNHNAAFMQIPMGLEGNFKGIVDLIEERAIYFDGDFGQIVRYGEIPA
  ELRAAATDHRQELIECVANSDEQLGEMFLEEKIPSISDLKLAIRRATLKRSFTPVFLGSA
  LKNKGVQPLLDAVLEYLPNPSEVQNYAILNKEDDSKEKTKILMNSSRDNSHPFVGLAFKL
  EVGRFGQLTYVRSYQGELKKGDTIYNTRTRKKVRLQRLARMHADMMEDVEEVYAGDICAL
  FGIDCASGDTFTDKANSGLSMESIHVPDPVISIAMKPSNKNDLEKFSKGIGRFTREDPTF
  KVYFDTENKETVISGMGELHLEIYAQRLEREYGCPCITGKPKVAFRETITAPVPFDFTHK
  KQSGGAGQYGKVIGVLEPLDPEDYTKLEFSDETFGSNIPKQFVPAVEKGFLDACEKGPLS
  GHKLSGLRFVLQDGAHHMVDSNEISFIRAGEGALKQALANATLCILEPIMAVEVVAPNEF
  QGQVIAGINRRHGVITGQDGVEDYFTLYADVPLNDMFGYSTELRSCTEGKGEYTMEYSRY
  QPCLPSTQEDVINKYLEATGQLPVKKGKAKN

• Sequence length: 751

Pathways

Reactome:

Mitochondrial translation elongation

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
Combined oxidative phosphorylation deficiency	Likely pathogenic; Pathogenic	rs139430866, rs751069628	RCV000851197 RCV000851196	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GFM1-related disorder	Likely pathogenic; Pathogenic	rs778902849, rs774456344, rs2473037328, rs2474011247	RCV003416518 RCV003417713 RCV003416882 RCV003422468	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Pathogenic; Likely pathogenic	rs757691557, rs1262218849, rs757524798, rs867885977, rs775919783, rs1004779078, rs541171482, rs767325554, rs2108016910, rs1560135485, rs1725442904, rs763344414, rs775228051, rs1449057162, rs768112611, rs778902849, rs1263604546, rs771890880, rs889180452, rs760266828, rs1721865059, rs2108102423, rs763423294, rs1214047183, rs1332636394, rs1456835520, rs750287727, rs760290078, rs1416173655, rs2473036507, rs119470018, rs119470019, rs119470020, rs1722355988, rs756718556, rs1281034886, rs863224030, rs863224033, rs774456344, rs863224032, rs761095873, rs201408725, rs2473938268, rs2473046112, rs2108051038, rs2473938802, rs2473971829, rs1722457560, rs2473961042, rs2473949063, rs1725682836, rs201360324, rs2473948725, rs529233762, rs1721717504, rs2473935333, rs2473938735, rs2473966364, rs2473966537, rs1263302192, rs2473940889, rs2473985812, rs2473935158, rs766878293, rs2473064132, rs2473960497, rs2473993041, rs1314096195, rs2473949734, rs2473045397, rs2473938700, rs1391874523, rs2473949135, rs2473064367, rs1434843098, rs200697129, rs886058120, rs2473941549, rs2473938090, rs2474011501, rs1721792587, rs955729561, rs768006278, rs1437640913, rs139430866, rs752037355, rs751069628, rs1553847587, rs1462851267, rs62286651, rs752400894, rs1174797887, rs1362847020, rs745718158, rs765266988, rs766234016, rs1576745248, rs866604517, rs779877297, rs1576757241, rs143031224, rs780762234, rs753352064, rs1402362655, rs1721780124, rs763084523, rs748116978, rs1245712932, rs1723572750	RCV001329386 RCV001831352 RCV001836383 RCV001826130 RCV003463027 RCV001831380 RCV001449604 RCV001449659 RCV001580712 RCV001783359 RCV003989093 RCV003464295 RCV005038385 RCV003464159 RCV003471167 RCV002506920 RCV003471067 RCV003471142 RCV003471141 RCV005023284 RCV003464305 RCV003471216 RCV003146413 RCV004571752 RCV003464329 RCV005025666 RCV003233002 RCV003459734 RCV003465945 RCV003465956 RCV000004377 RCV000004378 RCV000004379 RCV003464582 RCV005027946 RCV005028031 RCV001273487 RCV002500612 RCV003330568 RCV000995549 RCV003468887 RCV000763507 RCV004572498 RCV005028135 RCV003461686 RCV003461687 RCV003461688 RCV003461689 RCV003461690 RCV003468267 RCV003468268 RCV003461691 RCV003461692 RCV003461693 RCV003461694 RCV003461695 RCV003468270 RCV003468271 RCV003461697 RCV003461698 RCV003461699 RCV003468272 RCV003468273 RCV003468274 RCV003461700 RCV003468275 RCV003461701 RCV003468276 RCV003461702 RCV003461703 RCV003461704 RCV003468277 RCV003461705 RCV003468278 RCV003461706 RCV003468279 RCV003468280 RCV003461707 RCV004574120 RCV000272222 RCV004576679 RCV004576680 RCV004576681 RCV004576682 RCV004576683 RCV004576684 RCV004576685 RCV000023564 RCV003470574 RCV003465353 RCV000625929 RCV000779396 RCV003467367 RCV003461170 RCV004569574 RCV003232990 RCV001273488 RCV000826110 RCV001002683 RCV001002681 RCV001002676 RCV001002677 RCV001002682 RCV001002684 RCV003462600 RCV003462551 RCV003387961 RCV003462686 RCV004570433 RCV001833837 RCV003462703 RCV001833935 RCV003459761	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic	rs747437028, rs760290078	RCV005912583 RCV005930384	★★★★☆ 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
Cervical cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh syndrome	Conflicting classifications of pathogenicity	ClinVar ClinGen, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Conflicting classifications of pathogenicity	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; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Relative macrocephaly	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe muscular hypotonia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	39952508	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30954623, 31043777		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30954623, 31043777		★☆☆☆☆ Found in Text Mining only
Basal ganglia cysts	Basal ganglia cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	25217982		★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	25217982	Associate	★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	32776492	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	25714433		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10597254		★☆☆☆☆ Found in Text Mining only
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	BEFREE	15937810		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28668882		★☆☆☆☆ Found in Text Mining only
Cataract, Congenital, Cerulean Type, 2	Cataract	BEFREE	31233886		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	24567178		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	12553050		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Combined Oxidative Phosphorylation Deficiency 1	Combined Oxidative Phosphorylation Deficiency	UNIPROT_DG	15537906, 17160893, 21119709, 26741492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined Oxidative Phosphorylation Deficiency 1	Combined Oxidative Phosphorylation Deficiency	GENOMICS_ENGLAND_DG	17160893, 21119709, 25655951, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined Oxidative Phosphorylation Deficiency 1	Combined Oxidative Phosphorylation Deficiency	ORPHANET_DG	23430926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined Oxidative Phosphorylation Deficiency 1	Combined oxidative phosphorylation deficiency	Pubtator	38204316	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined Oxidative Phosphorylation Deficiency 1	Combined Oxidative Phosphorylation Deficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined Oxidative Phosphorylation Deficiency 1	Combined Oxidative Phosphorylation Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorder Of Glycosylation Type In	Congenital disorder of glycosylation	Pubtator	28216230	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	28216230		★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	28216230	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	20124286		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	17160893, 21986555		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	25222228		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	32776492	Associate	★☆☆☆☆ Found in Text Mining only
Factor VII Deficiency	Factor vii deficiency	Pubtator	11529858	Associate	★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	29582677		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25714433		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25714433		★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia b	Pubtator	12871416	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Hepatoencephalopathy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Huntington Disease	Huntington disease	Pubtator	39952508	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	32776492	Associate	★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	17160893		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CLINGEN_DG	17160893, 18853439, 21364917, 23430926, 25852744, 27977873		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	17160893	Associate	★☆☆☆☆ Found in Text Mining only
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	Leigh Syndrome	CLINGEN_DG	17160893, 18853439, 21364917, 23430926, 25852744, 27977873		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome Due To Mitochondrial Complex II Deficiency	Leigh Syndrome	CLINGEN_DG	17160893, 18853439, 21364917, 23430926, 25852744, 27977873		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex III Deficiency	Leigh Syndrome	CLINGEN_DG	17160893, 18853439, 21364917, 23430926, 25852744, 27977873		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex IV Deficiency	Leigh Syndrome	CLINGEN_DG	17160893, 18853439, 21364917, 23430926, 25852744, 27977873		★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex V Deficiency	Leigh Syndrome	CLINGEN_DG	17160893, 18853439, 21364917, 23430926, 25852744, 27977873		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	25195656, 29728305		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	32776492	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	21986555		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10597254		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28668882		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	38204316	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	15537906, 21119709, 21169334, 28216230, 35581596	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	21119709		★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	BEFREE	21119709, 27345796		★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	Pubtator	21119709, 27345796	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	21553011		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndrome with Isolated del(5q)	Myelodysplastic syndrome	BEFREE	21715006		★☆☆☆☆ Found in Text Mining only
Necrotizing encephalopathy, infantile subacute, of Leigh	Necrotizing encephalomyelopathy	CLINGEN_DG	17160893, 18853439, 21364917, 23430926, 25852744, 27977873		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15564150, 26890991, 27793028		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	39952508	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oxidative Phosphorylation Deficiencies	Oxidative Phosphorylation Deficiency	BEFREE	15537906, 16632485		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	39952508	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	17160893		★☆☆☆☆ Found in Text Mining only
SEBASTIAN SYNDROME	SEBASTIAN SYNDROME	BEFREE	15937810		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	32776492	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	28209049		★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	15842356	Associate	★☆☆☆☆ Found in Text Mining only