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	25839
Gene name	Component of oligomeric golgi complex 4
Gene symbol	COG4
Synonyms (NCBI Gene)	CDG2JCOD1SWILS
Chromosome	16
Chromosome location	16q22.1
Summary	The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants e

Show/Hide all (13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs267606740	G>A	Pathogenic	Downstream transcript variant, missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs372362031	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs376663459	G>A	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, stop gained
rs376885733	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, 5 prime UTR variant, synonymous variant, coding sequence variant
rs387907202	C>A,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant, 5 prime UTR variant
rs387907203	A>C,G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant, downstream transcript variant
rs533161794	G>A,C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, synonymous variant, downstream transcript variant
rs1048764460	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1064793795	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1333878137	AG>-	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1555497029	A>T	Pathogenic	Splice donor variant
rs1555573157	C>G	Likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555575860	C>G,T	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant

189

Show/Hide all (189)

miRTarBase ID	miRNA	Experiments	Reference
MIRT040817	hsa-miR-18a-3p	CLASH	23622248
MIRT039829	hsa-miR-615-3p	CLASH	23622248
MIRT902158	hsa-miR-122	CLIP-seq
MIRT902159	hsa-miR-1224-3p	CLIP-seq
MIRT902160	hsa-miR-1260	CLIP-seq
MIRT902161	hsa-miR-1260b	CLIP-seq
MIRT902162	hsa-miR-1280	CLIP-seq
MIRT738265	hsa-miR-1285	CLIP-seq
MIRT738259	hsa-miR-1587	CLIP-seq
MIRT902163	hsa-miR-188-3p	CLIP-seq
MIRT902164	hsa-miR-3119	CLIP-seq
MIRT902165	hsa-miR-3156-3p	CLIP-seq
MIRT738266	hsa-miR-3187-5p	CLIP-seq
MIRT902166	hsa-miR-3616-3p	CLIP-seq
MIRT738264	hsa-miR-378g	CLIP-seq
MIRT902167	hsa-miR-4266	CLIP-seq
MIRT902168	hsa-miR-4435	CLIP-seq
MIRT902169	hsa-miR-4436b-3p	CLIP-seq
MIRT738268	hsa-miR-4486	CLIP-seq
MIRT738263	hsa-miR-4492	CLIP-seq
MIRT738261	hsa-miR-4498	CLIP-seq
MIRT902170	hsa-miR-4649-3p	CLIP-seq
MIRT738262	hsa-miR-4656	CLIP-seq
MIRT738257	hsa-miR-4675	CLIP-seq
MIRT902171	hsa-miR-4721	CLIP-seq
MIRT738258	hsa-miR-4741	CLIP-seq
MIRT738267	hsa-miR-612	CLIP-seq
MIRT738260	hsa-miR-762	CLIP-seq
MIRT902172	hsa-miR-298	CLIP-seq
MIRT902173	hsa-miR-3176	CLIP-seq
MIRT902174	hsa-miR-320a	CLIP-seq
MIRT902175	hsa-miR-320b	CLIP-seq
MIRT902176	hsa-miR-320c	CLIP-seq
MIRT902177	hsa-miR-320d	CLIP-seq
MIRT902178	hsa-miR-320e	CLIP-seq
MIRT902179	hsa-miR-3922-3p	CLIP-seq
MIRT902180	hsa-miR-3973	CLIP-seq
MIRT902181	hsa-miR-4279	CLIP-seq
MIRT902182	hsa-miR-4429	CLIP-seq
MIRT902183	hsa-miR-520g	CLIP-seq
MIRT902184	hsa-miR-520h	CLIP-seq
MIRT902185	hsa-miR-591	CLIP-seq
MIRT738265	hsa-miR-1285	CLIP-seq
MIRT738259	hsa-miR-1587	CLIP-seq
MIRT738266	hsa-miR-3187-5p	CLIP-seq
MIRT738264	hsa-miR-378g	CLIP-seq
MIRT738268	hsa-miR-4486	CLIP-seq
MIRT738263	hsa-miR-4492	CLIP-seq
MIRT738261	hsa-miR-4498	CLIP-seq
MIRT738262	hsa-miR-4656	CLIP-seq
MIRT738257	hsa-miR-4675	CLIP-seq
MIRT738258	hsa-miR-4741	CLIP-seq
MIRT738267	hsa-miR-612	CLIP-seq
MIRT738260	hsa-miR-762	CLIP-seq
MIRT1967656	hsa-miR-382	CLIP-seq
MIRT2203390	hsa-miR-1207-5p	CLIP-seq
MIRT2203391	hsa-miR-142-3p	CLIP-seq
MIRT2203392	hsa-miR-1909	CLIP-seq
MIRT2203393	hsa-miR-4255	CLIP-seq
MIRT2203394	hsa-miR-4453	CLIP-seq
MIRT2203395	hsa-miR-4538	CLIP-seq
MIRT2203396	hsa-miR-4718	CLIP-seq
MIRT2203397	hsa-miR-4736	CLIP-seq
MIRT2203398	hsa-miR-4763-3p	CLIP-seq
MIRT902180	hsa-miR-3973	CLIP-seq
MIRT902181	hsa-miR-4279	CLIP-seq
MIRT902183	hsa-miR-520g	CLIP-seq
MIRT902184	hsa-miR-520h	CLIP-seq
MIRT2203390	hsa-miR-1207-5p	CLIP-seq
MIRT902158	hsa-miR-122	CLIP-seq
MIRT902159	hsa-miR-1224-3p	CLIP-seq
MIRT902160	hsa-miR-1260	CLIP-seq
MIRT902161	hsa-miR-1260b	CLIP-seq
MIRT902162	hsa-miR-1280	CLIP-seq
MIRT2506317	hsa-miR-1304	CLIP-seq
MIRT2203391	hsa-miR-142-3p	CLIP-seq
MIRT738259	hsa-miR-1587	CLIP-seq
MIRT902163	hsa-miR-188-3p	CLIP-seq
MIRT2203392	hsa-miR-1909	CLIP-seq
MIRT2506318	hsa-miR-1913	CLIP-seq
MIRT2506319	hsa-miR-198	CLIP-seq
MIRT2506320	hsa-miR-28-5p	CLIP-seq
MIRT902172	hsa-miR-298	CLIP-seq
MIRT2506321	hsa-miR-31	CLIP-seq
MIRT902164	hsa-miR-3119	CLIP-seq
MIRT2506322	hsa-miR-3139	CLIP-seq
MIRT2506323	hsa-miR-3150a-3p	CLIP-seq
MIRT902165	hsa-miR-3156-3p	CLIP-seq
MIRT2506324	hsa-miR-3175	CLIP-seq
MIRT902173	hsa-miR-3176	CLIP-seq
MIRT902174	hsa-miR-320a	CLIP-seq
MIRT902175	hsa-miR-320b	CLIP-seq
MIRT902176	hsa-miR-320c	CLIP-seq
MIRT902177	hsa-miR-320d	CLIP-seq
MIRT902178	hsa-miR-320e	CLIP-seq
MIRT2506325	hsa-miR-324-3p	CLIP-seq
MIRT2506326	hsa-miR-361-3p	CLIP-seq
MIRT2506327	hsa-miR-3615	CLIP-seq
MIRT902166	hsa-miR-3616-3p	CLIP-seq
MIRT2506328	hsa-miR-3622a-3p	CLIP-seq
MIRT2506329	hsa-miR-3622b-3p	CLIP-seq
MIRT738264	hsa-miR-378g	CLIP-seq
MIRT902179	hsa-miR-3922-3p	CLIP-seq
MIRT2203393	hsa-miR-4255	CLIP-seq
MIRT902167	hsa-miR-4266	CLIP-seq
MIRT2506330	hsa-miR-4313	CLIP-seq
MIRT902182	hsa-miR-4429	CLIP-seq
MIRT902168	hsa-miR-4435	CLIP-seq
MIRT902169	hsa-miR-4436b-3p	CLIP-seq
MIRT2203394	hsa-miR-4453	CLIP-seq
MIRT2506331	hsa-miR-4481	CLIP-seq
MIRT738263	hsa-miR-4492	CLIP-seq
MIRT738261	hsa-miR-4498	CLIP-seq
MIRT2203395	hsa-miR-4538	CLIP-seq
MIRT902170	hsa-miR-4649-3p	CLIP-seq
MIRT738262	hsa-miR-4656	CLIP-seq
MIRT738257	hsa-miR-4675	CLIP-seq
MIRT2506332	hsa-miR-4708-5p	CLIP-seq
MIRT2203396	hsa-miR-4718	CLIP-seq
MIRT902171	hsa-miR-4721	CLIP-seq
MIRT2203397	hsa-miR-4736	CLIP-seq
MIRT738258	hsa-miR-4741	CLIP-seq
MIRT2506333	hsa-miR-4745-5p	CLIP-seq
MIRT2203398	hsa-miR-4763-3p	CLIP-seq
MIRT2506334	hsa-miR-4763-5p	CLIP-seq
MIRT2506335	hsa-miR-4768-5p	CLIP-seq
MIRT2506336	hsa-miR-491-5p	CLIP-seq
MIRT2506337	hsa-miR-499a-5p	CLIP-seq
MIRT902185	hsa-miR-591	CLIP-seq
MIRT2506338	hsa-miR-639	CLIP-seq
MIRT2506339	hsa-miR-661	CLIP-seq
MIRT2506340	hsa-miR-708	CLIP-seq
MIRT2506341	hsa-miR-720	CLIP-seq
MIRT738260	hsa-miR-762	CLIP-seq
MIRT2506342	hsa-miR-939	CLIP-seq
MIRT2506343	hsa-miR-942	CLIP-seq
MIRT902158	hsa-miR-122	CLIP-seq
MIRT902159	hsa-miR-1224-3p	CLIP-seq
MIRT902160	hsa-miR-1260	CLIP-seq
MIRT902161	hsa-miR-1260b	CLIP-seq
MIRT902162	hsa-miR-1280	CLIP-seq
MIRT738259	hsa-miR-1587	CLIP-seq
MIRT902163	hsa-miR-188-3p	CLIP-seq
MIRT2506318	hsa-miR-1913	CLIP-seq
MIRT2506320	hsa-miR-28-5p	CLIP-seq
MIRT902172	hsa-miR-298	CLIP-seq
MIRT902164	hsa-miR-3119	CLIP-seq
MIRT2506322	hsa-miR-3139	CLIP-seq
MIRT2506323	hsa-miR-3150a-3p	CLIP-seq
MIRT902165	hsa-miR-3156-3p	CLIP-seq
MIRT2506324	hsa-miR-3175	CLIP-seq
MIRT902173	hsa-miR-3176	CLIP-seq
MIRT902174	hsa-miR-320a	CLIP-seq
MIRT902175	hsa-miR-320b	CLIP-seq
MIRT902176	hsa-miR-320c	CLIP-seq
MIRT902177	hsa-miR-320d	CLIP-seq
MIRT902178	hsa-miR-320e	CLIP-seq
MIRT2506325	hsa-miR-324-3p	CLIP-seq
MIRT2506326	hsa-miR-361-3p	CLIP-seq
MIRT2506327	hsa-miR-3615	CLIP-seq
MIRT902166	hsa-miR-3616-3p	CLIP-seq
MIRT2506328	hsa-miR-3622a-3p	CLIP-seq
MIRT2506329	hsa-miR-3622b-3p	CLIP-seq
MIRT738264	hsa-miR-378g	CLIP-seq
MIRT902179	hsa-miR-3922-3p	CLIP-seq
MIRT902167	hsa-miR-4266	CLIP-seq
MIRT2506330	hsa-miR-4313	CLIP-seq
MIRT902182	hsa-miR-4429	CLIP-seq
MIRT902168	hsa-miR-4435	CLIP-seq
MIRT902169	hsa-miR-4436b-3p	CLIP-seq
MIRT738263	hsa-miR-4492	CLIP-seq
MIRT738261	hsa-miR-4498	CLIP-seq
MIRT902170	hsa-miR-4649-3p	CLIP-seq
MIRT738262	hsa-miR-4656	CLIP-seq
MIRT738257	hsa-miR-4675	CLIP-seq
MIRT2506332	hsa-miR-4708-5p	CLIP-seq
MIRT902171	hsa-miR-4721	CLIP-seq
MIRT738258	hsa-miR-4741	CLIP-seq
MIRT2506334	hsa-miR-4763-5p	CLIP-seq
MIRT2506335	hsa-miR-4768-5p	CLIP-seq
MIRT2506336	hsa-miR-491-5p	CLIP-seq
MIRT902185	hsa-miR-591	CLIP-seq
MIRT2506338	hsa-miR-639	CLIP-seq
MIRT2506339	hsa-miR-661	CLIP-seq
MIRT2506340	hsa-miR-708	CLIP-seq
MIRT2506341	hsa-miR-720	CLIP-seq
MIRT738260	hsa-miR-762	CLIP-seq
MIRT2506342	hsa-miR-939	CLIP-seq
MIRT2506343	hsa-miR-942	CLIP-seq

Show/Hide all (20)

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, 19536132, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IEA
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IMP	19536132
GO:0007030	Process	Golgi organization	IBA
GO:0007030	Process	Golgi organization	IMP	19536132, 27066481
GO:0015031	Process	Protein transport	IEA
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	NAS	27066481
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0042802	Function	Identical protein binding	IPI	19651599
GO:0070085	Process	Glycosylation	IMP	27066481

MIM	HGNC	e!Ensembl
606976	18620	ENSG00000103051

Q9H9E3

Protein name

Conserved oligomeric Golgi complex subunit 4 (COG complex subunit 4) (Component of oligomeric Golgi complex 4)

Protein function

Required for normal Golgi function (PubMed:19536132, PubMed:30290151). Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1 (PubMed:19536132). {ECO:0000269|PubMed:19536132, ECO:0000269|PubMed:302

PDB

3HR0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08318	COG4	188 → 497	COG4 transport protein	Domain

Sequence

MADLDSPPKLSGVQQPSEGVGGGRCSEISAELIRSLTELQELEAVYERLCGEEKVVEREL
DALLEQQNTIESKMVTLHRMGPNLQLIEGDAKQLAGMITFTCNLAENVSSKVRQLDLAKN
RLYQAIQRADDILDLKFCMDGVQTALRSEDYEQAAAHTHRYLCLDKSVIELSRQGKEGSM
IDANLKLLQEAEQRLKAIVAEKFAIATKEGDLPQVERFFKIFPLLGLHEEGLRKFSEYLC
KQVASKAEENLLMVLGTDMSDRRAAVIFADTLTLLFEGIARIVETHQPIVETYYGPGRLY
TLIKYLQVECDRQVEKVVDKFIKQRDYHQQFRHVQNNLMRNSTTEKIEPRELDPILTEVT
LMNARSELYLRFLKKRISSDFEVGDSMASEEVKQEHQKCLDKLLNNCLLSCTMQELIGLY
VTMEEYFMRETVNKAVALDTYEKGQLTSSMVDDVFYIVKKCIGRALSSSSIDCLCAMINL
ATTELESDFRDVLCNKLRMGFPATTFQDIQRGVTSAVNIMHSSLQQGKFDTKGIESTDEA
KMSFLVTLNNVEVCSENISTLKKTLESDCTKLFSQGIGGEQAQAKFDSCLSDLAAVSNKF
RDLLQEGLTELNSTAIKPQVQPWINSFFSVSHNIEEEEFNDYEANDPWVQQFILNLEQQM
AEFKASLSPVIYDSLTGLMTSLVAVELEKVVLKSTFNRLGGLQFDKELRSLIAYLTTVTT
WTIRDKFARLSQMATILNLERVTEILDYWGPNSGPLTWRLTPAEVRQVLALRIDFRSEDI
KRLRL

Sequence length

785

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
COG4-congenital disorder of glycosylation	Pathogenic; Likely pathogenic	rs2151749755, rs2151758141, rs2151758219, rs540632609, rs267606740, rs376663459, rs926950737, rs387907202, rs387907203, rs1555575860, rs937887233, rs1048764460, rs2049726544, rs1249789100, rs1311924956	RCV001647345 RCV001647344 RCV001962877 RCV002021735 RCV000003837 View all (10 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COG4-related disorder	Likely pathogenic; Pathogenic	rs1333878137	RCV005223078	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Delayed gross motor development	Pathogenic	rs1048764460	RCV000782124	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Likely pathogenic	rs540632609	RCV005925664	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type	Likely pathogenic; Pathogenic	rs1474477573, rs539535604, rs1555575860, rs1048764460, rs1249789100	RCV003990382 RCV003990396 RCV000710020 RCV000710021 RCV002499389 RCV004820869 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (21)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COG4-CDG	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPONENT OF OLIGOMERIC GOLGI COMPLEX 4 CONGENITAL DISORDER OF GLYCOSYLATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROSS MOTOR DEVELOPMENT DELAY	—	Disgenet	★★★★★ ★★☆☆☆ 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	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAUL-WILSON SYNDROME	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ 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

Show/Hide Text Mining Associations (54)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Apraxia of Phonation	Apraxia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34539936	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT 5, MULTIPLE TYPES	Cataract	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
COG4-CDG	Congenital Disorder Of Glycosylation	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone Dystrophy	Cone Dystrophy	BEFREE	11875055, 9418727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital bilateral ptosis	Congenital bilateral ptosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type II	Congenital disorder of glycosylation	Pubtator	19494034	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii	Congenital disorder of glycosylation	BEFREE	19494034		★★★★★ ★☆☆☆☆ Found in Text Mining only
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj	Congenital disorder of glycosylation	GENOMICS_ENGLAND_DG	11980916, 21185756, 25529582, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj	Congenital disorder of glycosylation	UNIPROT_DG	19494034, 19651599		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj	Congenital disorder of glycosylation	CLINVAR_DG	19494034, 21185756		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj	Congenital disorder of glycosylation	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	21185756	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	25359423	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epiphyseal dysplasia multiple 1	Epiphyseal dysplasia	Pubtator	21185756	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal cerebral atrophy	Frontotemporal cerebral atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	32652690	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephalic osteodysplastic dysplasia, Saul-Wilson type	Microcephalic osteodysplastic dysplasia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	19690088	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Relative macrocephaly	Macrocephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	11875055, 12807962		★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 3	Retinitis Pigmentosa	BEFREE	10970770		★★★★★ ★☆☆☆☆ Found in Text Mining only
SAUL-WILSON SYNDROME	Microcephalic osteodysplastic dysplasia	BEFREE	30290151		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAUL-WILSON SYNDROME	Microcephalic osteodysplastic dysplasia	UNIPROT_DG	30290151		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAUL-WILSON SYNDROME	Microcephalic osteodysplastic dysplasia	ORPHANET_DG	30290151		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAUL-WILSON SYNDROME	Microcephalic osteodysplastic dysplasia	GENOMICS_ENGLAND_DG	30290151		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAUL-WILSON SYNDROME	Microcephalic osteodysplastic dysplasia	CLINVAR_DG	30290151		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure, Febrile, Complex	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	30287385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

COG4 (component of oligomeric golgi complex 4)