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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10466
Gene name	Component of oligomeric golgi complex 5
Gene symbol	COG5
Synonyms (NCBI Gene)	CDG2IGOLTC1GTC90
Chromosome	7
Chromosome location	7q22.3
Summary	The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs143773937	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs149574256	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs760015202	TTGA>-,TTGATTGA	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs773281248	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1135401817	G>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1231928102	G>A	Pathogenic	Coding sequence variant, stop gained
rs1422285851	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554464495	C>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs1562937199	T>C	Pathogenic	Intron variant

263

Show/Hide all (263)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027656	hsa-miR-98-5p	Microarray	19088304
MIRT044640	hsa-miR-320a	CLASH	23622248
MIRT538438	hsa-miR-497-3p	PAR-CLIP	22012620
MIRT538437	hsa-miR-181a-2-3p	PAR-CLIP	22012620
MIRT538436	hsa-miR-610	PAR-CLIP	22012620
MIRT538435	hsa-miR-221-3p	PAR-CLIP	22012620
MIRT538434	hsa-miR-222-3p	PAR-CLIP	22012620
MIRT538433	hsa-miR-4261	PAR-CLIP	22012620
MIRT538432	hsa-miR-3978	PAR-CLIP	22012620
MIRT538438	hsa-miR-497-3p	PAR-CLIP	22012620
MIRT538437	hsa-miR-181a-2-3p	PAR-CLIP	22012620
MIRT538436	hsa-miR-610	PAR-CLIP	22012620
MIRT538435	hsa-miR-221-3p	PAR-CLIP	22012620
MIRT538434	hsa-miR-222-3p	PAR-CLIP	22012620
MIRT538433	hsa-miR-4261	PAR-CLIP	22012620
MIRT538432	hsa-miR-3978	PAR-CLIP	22012620
MIRT902186	hsa-miR-101	CLIP-seq
MIRT902187	hsa-miR-103a	CLIP-seq
MIRT902188	hsa-miR-107	CLIP-seq
MIRT902189	hsa-miR-1225-5p	CLIP-seq
MIRT902190	hsa-miR-1253	CLIP-seq
MIRT902191	hsa-miR-1255a	CLIP-seq
MIRT902192	hsa-miR-1255b	CLIP-seq
MIRT902193	hsa-miR-1301	CLIP-seq
MIRT902194	hsa-miR-1302	CLIP-seq
MIRT902195	hsa-miR-144	CLIP-seq
MIRT902196	hsa-miR-1827	CLIP-seq
MIRT902197	hsa-miR-214	CLIP-seq
MIRT902198	hsa-miR-3122	CLIP-seq
MIRT902199	hsa-miR-3148	CLIP-seq
MIRT902200	hsa-miR-3185	CLIP-seq
MIRT902201	hsa-miR-3199	CLIP-seq
MIRT902202	hsa-miR-342-5p	CLIP-seq
MIRT902203	hsa-miR-3614-5p	CLIP-seq
MIRT902204	hsa-miR-3619-5p	CLIP-seq
MIRT902205	hsa-miR-3659	CLIP-seq
MIRT902206	hsa-miR-3913-5p	CLIP-seq
MIRT902207	hsa-miR-3944-5p	CLIP-seq
MIRT902208	hsa-miR-4298	CLIP-seq
MIRT902209	hsa-miR-4433	CLIP-seq
MIRT902210	hsa-miR-4651	CLIP-seq
MIRT902211	hsa-miR-4658	CLIP-seq
MIRT902212	hsa-miR-4660	CLIP-seq
MIRT902213	hsa-miR-4664-5p	CLIP-seq
MIRT902214	hsa-miR-4668-5p	CLIP-seq
MIRT902215	hsa-miR-4684-3p	CLIP-seq
MIRT902216	hsa-miR-4722-5p	CLIP-seq
MIRT902217	hsa-miR-4765	CLIP-seq
MIRT902218	hsa-miR-5047	CLIP-seq
MIRT902219	hsa-miR-548c-3p	CLIP-seq
MIRT902220	hsa-miR-574-5p	CLIP-seq
MIRT902221	hsa-miR-608	CLIP-seq
MIRT902222	hsa-miR-761	CLIP-seq
MIRT902223	hsa-miR-9	CLIP-seq
MIRT902224	hsa-miR-940	CLIP-seq
MIRT902225	hsa-miR-122	CLIP-seq
MIRT902226	hsa-miR-130a	CLIP-seq
MIRT902227	hsa-miR-130b	CLIP-seq
MIRT902228	hsa-miR-2053	CLIP-seq
MIRT902229	hsa-miR-219-1-3p	CLIP-seq
MIRT902230	hsa-miR-221	CLIP-seq
MIRT902231	hsa-miR-222	CLIP-seq
MIRT902232	hsa-miR-301a	CLIP-seq
MIRT902233	hsa-miR-301b	CLIP-seq
MIRT902234	hsa-miR-3123	CLIP-seq
MIRT902235	hsa-miR-3147	CLIP-seq
MIRT902236	hsa-miR-3155	CLIP-seq
MIRT902237	hsa-miR-3155b	CLIP-seq
MIRT902238	hsa-miR-3156-3p	CLIP-seq
MIRT902239	hsa-miR-3622b-5p	CLIP-seq
MIRT902240	hsa-miR-3666	CLIP-seq
MIRT902241	hsa-miR-3925-5p	CLIP-seq
MIRT902242	hsa-miR-3945	CLIP-seq
MIRT902243	hsa-miR-3976	CLIP-seq
MIRT902244	hsa-miR-4253	CLIP-seq
MIRT902245	hsa-miR-4259	CLIP-seq
MIRT902246	hsa-miR-4295	CLIP-seq
MIRT902247	hsa-miR-4301	CLIP-seq
MIRT902248	hsa-miR-4305	CLIP-seq
MIRT902249	hsa-miR-4491	CLIP-seq
MIRT902250	hsa-miR-454	CLIP-seq
MIRT902251	hsa-miR-4657	CLIP-seq
MIRT902252	hsa-miR-4663	CLIP-seq
MIRT902253	hsa-miR-4682	CLIP-seq
MIRT902254	hsa-miR-4711-5p	CLIP-seq
MIRT902255	hsa-miR-4728-3p	CLIP-seq
MIRT902256	hsa-miR-4733-3p	CLIP-seq
MIRT902257	hsa-miR-4795-3p	CLIP-seq
MIRT902258	hsa-miR-483-3p	CLIP-seq
MIRT902259	hsa-miR-484	CLIP-seq
MIRT902260	hsa-miR-501-3p	CLIP-seq
MIRT902261	hsa-miR-502-3p	CLIP-seq
MIRT902262	hsa-miR-532-3p	CLIP-seq
MIRT902263	hsa-miR-569	CLIP-seq
MIRT902264	hsa-miR-571	CLIP-seq
MIRT902265	hsa-miR-767-5p	CLIP-seq
MIRT902266	hsa-miR-885-3p	CLIP-seq
MIRT902267	hsa-miR-934	CLIP-seq
MIRT902268	hsa-miR-1972	CLIP-seq
MIRT902257	hsa-miR-4795-3p	CLIP-seq
MIRT902269	hsa-miR-548ag	CLIP-seq
MIRT902270	hsa-miR-548ai	CLIP-seq
MIRT902271	hsa-miR-561	CLIP-seq
MIRT902272	hsa-miR-769-5p	CLIP-seq
MIRT902266	hsa-miR-885-3p	CLIP-seq
MIRT1967657	hsa-miR-1290	CLIP-seq
MIRT902226	hsa-miR-130a	CLIP-seq
MIRT902227	hsa-miR-130b	CLIP-seq
MIRT1967658	hsa-miR-140-5p	CLIP-seq
MIRT902232	hsa-miR-301a	CLIP-seq
MIRT902233	hsa-miR-301b	CLIP-seq
MIRT902236	hsa-miR-3155	CLIP-seq
MIRT902237	hsa-miR-3155b	CLIP-seq
MIRT902238	hsa-miR-3156-3p	CLIP-seq
MIRT1967659	hsa-miR-3545-5p	CLIP-seq
MIRT902240	hsa-miR-3666	CLIP-seq
MIRT902246	hsa-miR-4295	CLIP-seq
MIRT902247	hsa-miR-4301	CLIP-seq
MIRT902248	hsa-miR-4305	CLIP-seq
MIRT1967660	hsa-miR-4460	CLIP-seq
MIRT902250	hsa-miR-454	CLIP-seq
MIRT1967661	hsa-miR-4694-5p	CLIP-seq
MIRT902258	hsa-miR-483-3p	CLIP-seq
MIRT902259	hsa-miR-484	CLIP-seq
MIRT902262	hsa-miR-532-3p	CLIP-seq
MIRT1967662	hsa-miR-633	CLIP-seq
MIRT2203399	hsa-miR-1179	CLIP-seq
MIRT2203400	hsa-miR-1207-5p	CLIP-seq
MIRT2203401	hsa-miR-1208	CLIP-seq
MIRT2203402	hsa-miR-1246	CLIP-seq
MIRT2203403	hsa-miR-1275	CLIP-seq
MIRT2203404	hsa-miR-135a	CLIP-seq
MIRT2203405	hsa-miR-135b	CLIP-seq
MIRT2203406	hsa-miR-141	CLIP-seq
MIRT2203407	hsa-miR-200a	CLIP-seq
MIRT902228	hsa-miR-2053	CLIP-seq
MIRT2203408	hsa-miR-296-3p	CLIP-seq
MIRT2203409	hsa-miR-3119	CLIP-seq
MIRT902236	hsa-miR-3155	CLIP-seq
MIRT902237	hsa-miR-3155b	CLIP-seq
MIRT902238	hsa-miR-3156-3p	CLIP-seq
MIRT902207	hsa-miR-3944-5p	CLIP-seq
MIRT2203410	hsa-miR-4271	CLIP-seq
MIRT902247	hsa-miR-4301	CLIP-seq
MIRT902248	hsa-miR-4305	CLIP-seq
MIRT2203411	hsa-miR-4506	CLIP-seq
MIRT2203412	hsa-miR-450b-3p	CLIP-seq
MIRT2203413	hsa-miR-4525	CLIP-seq
MIRT2203414	hsa-miR-4665-5p	CLIP-seq
MIRT2203415	hsa-miR-4666-5p	CLIP-seq
MIRT2203416	hsa-miR-4723-5p	CLIP-seq
MIRT2203417	hsa-miR-4725-3p	CLIP-seq
MIRT2203418	hsa-miR-4763-3p	CLIP-seq
MIRT2203419	hsa-miR-4790-3p	CLIP-seq
MIRT902258	hsa-miR-483-3p	CLIP-seq
MIRT902259	hsa-miR-484	CLIP-seq
MIRT2203420	hsa-miR-520g	CLIP-seq
MIRT2203421	hsa-miR-520h	CLIP-seq
MIRT902262	hsa-miR-532-3p	CLIP-seq
MIRT902263	hsa-miR-569	CLIP-seq
MIRT2203422	hsa-miR-625	CLIP-seq
MIRT1967662	hsa-miR-633	CLIP-seq
MIRT2203423	hsa-miR-769-3p	CLIP-seq
MIRT2203404	hsa-miR-135a	CLIP-seq
MIRT2203405	hsa-miR-135b	CLIP-seq
MIRT902230	hsa-miR-221	CLIP-seq
MIRT902231	hsa-miR-222	CLIP-seq
MIRT2203409	hsa-miR-3119	CLIP-seq
MIRT2506344	hsa-miR-1227	CLIP-seq
MIRT2506345	hsa-miR-1238	CLIP-seq
MIRT2506346	hsa-miR-1258	CLIP-seq
MIRT1967657	hsa-miR-1290	CLIP-seq
MIRT2203404	hsa-miR-135a	CLIP-seq
MIRT2203405	hsa-miR-135b	CLIP-seq
MIRT2203406	hsa-miR-141	CLIP-seq
MIRT2506347	hsa-miR-182	CLIP-seq
MIRT2203407	hsa-miR-200a	CLIP-seq
MIRT902228	hsa-miR-2053	CLIP-seq
MIRT2506348	hsa-miR-2278	CLIP-seq
MIRT2506349	hsa-miR-2681	CLIP-seq
MIRT2203409	hsa-miR-3119	CLIP-seq
MIRT2506350	hsa-miR-3140-3p	CLIP-seq
MIRT2506351	hsa-miR-3159	CLIP-seq
MIRT2506352	hsa-miR-3194-3p	CLIP-seq
MIRT2506353	hsa-miR-335	CLIP-seq
MIRT2506354	hsa-miR-3607-3p	CLIP-seq
MIRT2506355	hsa-miR-3681	CLIP-seq
MIRT2506356	hsa-miR-3921	CLIP-seq
MIRT2506357	hsa-miR-4266	CLIP-seq
MIRT2506358	hsa-miR-4282	CLIP-seq
MIRT2506359	hsa-miR-4303	CLIP-seq
MIRT2506360	hsa-miR-4325	CLIP-seq
MIRT2506361	hsa-miR-4453	CLIP-seq
MIRT2203412	hsa-miR-450b-3p	CLIP-seq
MIRT2506362	hsa-miR-4538	CLIP-seq
MIRT2506363	hsa-miR-4653-5p	CLIP-seq
MIRT2506364	hsa-miR-4691-5p	CLIP-seq
MIRT1967661	hsa-miR-4694-5p	CLIP-seq
MIRT2506365	hsa-miR-4695-5p	CLIP-seq
MIRT2506366	hsa-miR-4753-5p	CLIP-seq
MIRT2506367	hsa-miR-4760-5p	CLIP-seq
MIRT2506368	hsa-miR-4775	CLIP-seq
MIRT2506369	hsa-miR-4779	CLIP-seq
MIRT2506370	hsa-miR-485-5p	CLIP-seq
MIRT2506371	hsa-miR-548ac	CLIP-seq
MIRT2506372	hsa-miR-548ae	CLIP-seq
MIRT2506373	hsa-miR-548aj	CLIP-seq
MIRT2506374	hsa-miR-548am	CLIP-seq
MIRT902219	hsa-miR-548c-3p	CLIP-seq
MIRT2506375	hsa-miR-548d-3p	CLIP-seq
MIRT2506376	hsa-miR-548x	CLIP-seq
MIRT2506377	hsa-miR-548z	CLIP-seq
MIRT902263	hsa-miR-569	CLIP-seq
MIRT2506378	hsa-miR-590-3p	CLIP-seq
MIRT1967662	hsa-miR-633	CLIP-seq
MIRT2506379	hsa-miR-643	CLIP-seq
MIRT2203423	hsa-miR-769-3p	CLIP-seq
MIRT2506358	hsa-miR-4282	CLIP-seq
MIRT2506345	hsa-miR-1238	CLIP-seq
MIRT2506346	hsa-miR-1258	CLIP-seq
MIRT1967657	hsa-miR-1290	CLIP-seq
MIRT2203404	hsa-miR-135a	CLIP-seq
MIRT2203405	hsa-miR-135b	CLIP-seq
MIRT2203406	hsa-miR-141	CLIP-seq
MIRT2506347	hsa-miR-182	CLIP-seq
MIRT2203407	hsa-miR-200a	CLIP-seq
MIRT902228	hsa-miR-2053	CLIP-seq
MIRT2506348	hsa-miR-2278	CLIP-seq
MIRT2506349	hsa-miR-2681	CLIP-seq
MIRT2203409	hsa-miR-3119	CLIP-seq
MIRT2506350	hsa-miR-3140-3p	CLIP-seq
MIRT2506351	hsa-miR-3159	CLIP-seq
MIRT2506352	hsa-miR-3194-3p	CLIP-seq
MIRT2506353	hsa-miR-335	CLIP-seq
MIRT2506354	hsa-miR-3607-3p	CLIP-seq
MIRT2506355	hsa-miR-3681	CLIP-seq
MIRT2506356	hsa-miR-3921	CLIP-seq
MIRT2506357	hsa-miR-4266	CLIP-seq
MIRT2506358	hsa-miR-4282	CLIP-seq
MIRT2506359	hsa-miR-4303	CLIP-seq
MIRT2506360	hsa-miR-4325	CLIP-seq
MIRT2506361	hsa-miR-4453	CLIP-seq
MIRT2506362	hsa-miR-4538	CLIP-seq
MIRT2506363	hsa-miR-4653-5p	CLIP-seq
MIRT2506364	hsa-miR-4691-5p	CLIP-seq
MIRT1967661	hsa-miR-4694-5p	CLIP-seq
MIRT2506365	hsa-miR-4695-5p	CLIP-seq
MIRT2506366	hsa-miR-4753-5p	CLIP-seq
MIRT2506368	hsa-miR-4775	CLIP-seq
MIRT2506369	hsa-miR-4779	CLIP-seq
MIRT2506370	hsa-miR-485-5p	CLIP-seq
MIRT2506371	hsa-miR-548ac	CLIP-seq
MIRT2506372	hsa-miR-548ae	CLIP-seq
MIRT2506373	hsa-miR-548aj	CLIP-seq
MIRT2506374	hsa-miR-548am	CLIP-seq
MIRT902219	hsa-miR-548c-3p	CLIP-seq
MIRT2506375	hsa-miR-548d-3p	CLIP-seq
MIRT2506376	hsa-miR-548x	CLIP-seq
MIRT2506377	hsa-miR-548z	CLIP-seq
MIRT902263	hsa-miR-569	CLIP-seq
MIRT2506378	hsa-miR-590-3p	CLIP-seq
MIRT1967662	hsa-miR-633	CLIP-seq
MIRT2506379	hsa-miR-643	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	NAS	27066481
GO:0000139	Component	Golgi membrane	TAS
GO:0000301	Process	Retrograde transport, vesicle recycling within Golgi	IMP	27066481
GO:0005515	Function	Protein binding	IPI	15047703, 26871637, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA	9792665, 11980916
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IEA
GO:0006891	Process	Intra-Golgi vesicle-mediated transport	IBA
GO:0006891	Process	Intra-Golgi vesicle-mediated transport	IEA
GO:0006891	Process	Intra-Golgi vesicle-mediated transport	NAS	9792665
GO:0007030	Process	Golgi organization	IMP	27066481
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0017119	Component	Golgi transport complex	IBA
GO:0017119	Component	Golgi transport complex	IDA	15047703
GO:0017119	Component	Golgi transport complex	IEA
GO:0017119	Component	Golgi transport complex	NAS	9792665, 27066481
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0048219	Process	Inter-Golgi cisterna vesicle-mediated transport	IDA	9792665
GO:0070085	Process	Glycosylation	IMP	27066481

MIM	HGNC	e!Ensembl
606821	14857	ENSG00000164597

Q9UP83

Protein name

Conserved oligomeric Golgi complex subunit 5 (COG complex subunit 5) (13S Golgi transport complex 90 kDa subunit) (GTC-90) (Component of oligomeric Golgi complex 5) (Golgi transport complex 1)

Protein function

Required for normal Golgi function.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10392	COG5	66 → 189	Golgi transport complex subunit 5	Family

Sequence

MGWVGGRRRDSASPPGRSRSAADDINPAPANMEGGGGSVAVAGLGARGSGAAAATVRELL
QDGCYSDFLNEDFDVKTYTSQSIHQAVIAEQLAKLAQGISQLDRELHLQVVARHEDLLAQ
ATGIESLEGVLQMMQTRIGALQGAVDRIKAKIVEPYNKIVARTAQLARLQVACDLLRRII
RILNLSKRLQGQLQGGSREITKAAQSLNELDYLSQGIDLSGIEVIENDLLFIARARLEVE
NQAKRLLEQGLETQNPTQVGTALQVFYNLGTLKDTITSVVDGYCATLEENINSALDIKVL
TQPSQSAVRGGPGRSTMPTPGNTAALRASFWTNMEKLMDHIYAVCGQVQHLQKVLAKKRD
PVSHICFIEEIVKDGQPEIFYTFWNSVTQALSSQFHMATNSSMFLKQAFEGEYPKLLRLY
NDLWKRLQQYSQHIQGNFNASGTTDLYVDLQHMEDDAQDIFIPKKPDYDPEKALKDSLQP
YEAAYLSKSLSRLFDPINLVFPPGGRNPPSSDELDGIIKTIASELNVAAVDTNLTLAVSK
NVAKTIQLYSVKSEQLLSTQGDASQVIGPLTEGQRRNVAVVNSLYKLHQSVTKAIHALME
NAVQPLLTSVGDAIEAIIITMHQEDFSGSLSSSGKPDVPCSLYMKELQGFIARVMSDYFK
HFECLDFVFDNTEAIAQRAVELFIRHASLIRPLGEGGKMRLAADFAQMELAVGPFCRRVS
DLGKSYRMLRSFRPLLFQASEHVASSPALGDVIPFSIIIQFLFTRAPAELKSPFQRAEWS
HTRFSQWLDDHPSEKDRLLLIRGALEAYVQSVRSREGKEFAPVYPIMVQLLQKAMSALQ

Sequence length

839

Interactions

View interactions

	Reactome
			COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
COG5-congenital disorder of glycosylation	Pathogenic; Likely pathogenic	rs548774836, rs148069173, rs2116916717, rs1186590801, rs2116402799, rs1465217212, rs762675426, rs2116201860, rs2116623273, rs771651520, rs1792377306, rs778187974, rs1289836014, rs370028534, rs2116202376 View all (41 more)	RCV001331572 RCV001814690 RCV001927427 RCV002018984 RCV001925541 View all (51 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COG5-related disorder	Pathogenic	rs1554464495	RCV003965310	★★★★★ ★★★★☆ 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.
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COG5 CONGENITAL DISORDER OF GLYCOSYLATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COG5-CDG	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE III	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDERS OF GLYCOSYLATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (48)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Ataxia with vitamin E deficiency	Ataxia with vitamin e deficiency	Pubtator	28960046	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	29892015		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrophy/Degeneration affecting the brainstem	Brainstem Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	BEFREE	28444691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	28960046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	28960046	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
COG5 congenital disorder of glycosylation	CONGENITAL DISORDER OF GLYCOSYLATION	GENOMICS_ENGLAND_DG	19690088, 27604308, 28960046		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COG5 congenital disorder of glycosylation	CONGENITAL DISORDER OF GLYCOSYLATION	CLINVAR_DG	23228021		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COG5 congenital disorder of glycosylation	CONGENITAL DISORDER OF GLYCOSYLATION	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COG5-CDG	Congenital Disorder Of Glycosylation	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	19690088, 23228021, 28444691, 31572517		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	19690088	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	28714975		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	20112360, 22586168		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	GWASDB_DG	20112360		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	GWASCAT_DG	20112360		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	28960046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	28444691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epiphyseal dysplasia multiple 1	Epiphyseal dysplasia	Pubtator	19690088	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	28960046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	19690088	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	33277529	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	28960046, 33277529	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	26868820		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurogenic Urinary Bladder	Neurogenic Urinary Bladder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	24825461	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	19690088	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	33277529	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	20804914		★★★★★ ★☆☆☆☆ Found in Text Mining only

COG5 (component of oligomeric golgi complex 5)