COG6 (component of oligomeric golgi complex 6)

Gene

• Entrez ID: 57511
• Gene name: Component of oligomeric golgi complex 6
• Gene symbol: COG6
• Synonyms (NCBI Gene): CDG2L, COD2, SHNS
• Chromosome: 13
• Chromosome location: 13q14.11
• Summary: This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 int

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200177031	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs387906959	G>C,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs730882236	A>G	Likely-pathogenic, pathogenic	Intron variant
rs752232501	A>C,G	Pathogenic	Non coding transcript variant, initiator codon variant, missense variant
rs756826030	A>C,G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs781641023	G>A,T	Pathogenic	Splice acceptor variant
rs794726950	A>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1292534396	T>G	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1555277827	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1593402927	A>G	Likely-pathogenic	Splice acceptor variant
rs1593418044	CAAGAGAAGGACCCATTACTGAGGTA>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant, non coding transcript variant
rs1593418085	G>A	Likely-pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant
rs1593421620	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT640429	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT640428	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT640427	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT640426	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT640425	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT640424	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT640423	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT640421	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT640422	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT640420	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT640419	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT630750	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT630749	hsa-miR-4328	HITS-CLIP	23824327
MIRT630748	hsa-miR-18b-3p	HITS-CLIP	23824327
MIRT630747	hsa-miR-3613-5p	HITS-CLIP	23824327
MIRT630746	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT630745	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT630744	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT630743	hsa-miR-4777-3p	HITS-CLIP	23824327
MIRT630742	hsa-miR-3157-3p	HITS-CLIP	23824327
MIRT630741	hsa-miR-874-3p	HITS-CLIP	23824327
MIRT630740	hsa-miR-875-5p	HITS-CLIP	23824327
MIRT640429	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT640428	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT640427	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT640426	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT640425	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT640424	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT640423	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT640421	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT640422	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT640420	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT640419	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT630750	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT630749	hsa-miR-4328	HITS-CLIP	23824327
MIRT630748	hsa-miR-18b-3p	HITS-CLIP	23824327
MIRT630747	hsa-miR-3613-5p	HITS-CLIP	23824327
MIRT630746	hsa-miR-19a-5p	HITS-CLIP	23824327
MIRT630745	hsa-miR-19b-1-5p	HITS-CLIP	23824327
MIRT630744	hsa-miR-19b-2-5p	HITS-CLIP	23824327
MIRT630743	hsa-miR-4777-3p	HITS-CLIP	23824327
MIRT630742	hsa-miR-3157-3p	HITS-CLIP	23824327
MIRT630741	hsa-miR-874-3p	HITS-CLIP	23824327
MIRT630740	hsa-miR-875-5p	HITS-CLIP	23824327
MIRT902273	hsa-miR-1273f	CLIP-seq
MIRT902274	hsa-miR-1279	CLIP-seq
MIRT902275	hsa-miR-185	CLIP-seq
MIRT902276	hsa-miR-2054	CLIP-seq
MIRT902277	hsa-miR-218	CLIP-seq
MIRT902278	hsa-miR-2467-3p	CLIP-seq
MIRT902279	hsa-miR-2909	CLIP-seq
MIRT902280	hsa-miR-297	CLIP-seq
MIRT902281	hsa-miR-3120-3p	CLIP-seq
MIRT902282	hsa-miR-3135b	CLIP-seq
MIRT902283	hsa-miR-3149	CLIP-seq
MIRT902284	hsa-miR-3158-5p	CLIP-seq
MIRT902285	hsa-miR-3162-5p	CLIP-seq
MIRT902286	hsa-miR-3173-3p	CLIP-seq
MIRT902287	hsa-miR-331-5p	CLIP-seq
MIRT902288	hsa-miR-3678-3p	CLIP-seq
MIRT902289	hsa-miR-3942-5p	CLIP-seq
MIRT902290	hsa-miR-3977	CLIP-seq
MIRT902291	hsa-miR-425	CLIP-seq
MIRT902292	hsa-miR-4306	CLIP-seq
MIRT902293	hsa-miR-4418	CLIP-seq
MIRT902294	hsa-miR-4428	CLIP-seq
MIRT902295	hsa-miR-4436b-3p	CLIP-seq
MIRT902296	hsa-miR-4477b	CLIP-seq
MIRT902297	hsa-miR-4487	CLIP-seq
MIRT902298	hsa-miR-4633-5p	CLIP-seq
MIRT902299	hsa-miR-4644	CLIP-seq
MIRT902300	hsa-miR-4661-5p	CLIP-seq
MIRT902301	hsa-miR-4672	CLIP-seq
MIRT902302	hsa-miR-4703-5p	CLIP-seq
MIRT902303	hsa-miR-4729	CLIP-seq
MIRT902304	hsa-miR-4735-5p	CLIP-seq
MIRT902305	hsa-miR-502-5p	CLIP-seq
MIRT902306	hsa-miR-509-3-5p	CLIP-seq
MIRT902307	hsa-miR-509-5p	CLIP-seq
MIRT902308	hsa-miR-532-5p	CLIP-seq
MIRT902309	hsa-miR-579	CLIP-seq
MIRT902310	hsa-miR-636	CLIP-seq
MIRT902311	hsa-miR-660	CLIP-seq
MIRT902281	hsa-miR-3120-3p	CLIP-seq
MIRT1967663	hsa-miR-3128	CLIP-seq
MIRT1967664	hsa-miR-34a	CLIP-seq
MIRT1967665	hsa-miR-34c-5p	CLIP-seq
MIRT902289	hsa-miR-3942-5p	CLIP-seq
MIRT1967666	hsa-miR-449a	CLIP-seq
MIRT1967667	hsa-miR-449b	CLIP-seq
MIRT902300	hsa-miR-4661-5p	CLIP-seq
MIRT902301	hsa-miR-4672	CLIP-seq
MIRT902302	hsa-miR-4703-5p	CLIP-seq
MIRT1967668	hsa-miR-4720-5p	CLIP-seq
MIRT1967669	hsa-miR-4799-3p	CLIP-seq
MIRT2447422	hsa-miR-300	CLIP-seq
MIRT2447423	hsa-miR-381	CLIP-seq
MIRT2447424	hsa-miR-4503	CLIP-seq
MIRT2447425	hsa-miR-4666-3p	CLIP-seq
MIRT902274	hsa-miR-1279	CLIP-seq
MIRT902286	hsa-miR-3173-3p	CLIP-seq
MIRT902287	hsa-miR-331-5p	CLIP-seq
MIRT2506380	hsa-miR-3613-3p	CLIP-seq
MIRT2506381	hsa-miR-362-5p	CLIP-seq
MIRT2506382	hsa-miR-3646	CLIP-seq
MIRT902294	hsa-miR-4428	CLIP-seq
MIRT2506383	hsa-miR-4477a	CLIP-seq
MIRT902298	hsa-miR-4633-5p	CLIP-seq
MIRT902303	hsa-miR-4729	CLIP-seq
MIRT2506384	hsa-miR-4786-5p	CLIP-seq
MIRT2506385	hsa-miR-500b	CLIP-seq
MIRT2506386	hsa-miR-501-5p	CLIP-seq
MIRT2506387	hsa-miR-513a-3p	CLIP-seq
MIRT2506388	hsa-miR-520d-5p	CLIP-seq
MIRT2506389	hsa-miR-524-5p	CLIP-seq
MIRT902308	hsa-miR-532-5p	CLIP-seq
MIRT2506390	hsa-miR-548a-3p	CLIP-seq
MIRT2506391	hsa-miR-548e	CLIP-seq
MIRT2506392	hsa-miR-548f	CLIP-seq
MIRT2506393	hsa-miR-548g	CLIP-seq
MIRT2506394	hsa-miR-769-5p	CLIP-seq
MIRT2506395	hsa-miR-944	CLIP-seq
MIRT902274	hsa-miR-1279	CLIP-seq
MIRT902286	hsa-miR-3173-3p	CLIP-seq
MIRT902287	hsa-miR-331-5p	CLIP-seq
MIRT2506380	hsa-miR-3613-3p	CLIP-seq
MIRT2506382	hsa-miR-3646	CLIP-seq
MIRT902294	hsa-miR-4428	CLIP-seq
MIRT902298	hsa-miR-4633-5p	CLIP-seq
MIRT902303	hsa-miR-4729	CLIP-seq
MIRT2506384	hsa-miR-4786-5p	CLIP-seq
MIRT2506388	hsa-miR-520d-5p	CLIP-seq
MIRT2506389	hsa-miR-524-5p	CLIP-seq
MIRT902308	hsa-miR-532-5p	CLIP-seq
MIRT2506390	hsa-miR-548a-3p	CLIP-seq
MIRT2506391	hsa-miR-548e	CLIP-seq
MIRT2506392	hsa-miR-548f	CLIP-seq
MIRT2506393	hsa-miR-548g	CLIP-seq
MIRT2506394	hsa-miR-769-5p	CLIP-seq

Gene ontology (GO)

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	27107012, 28514442, 32296183, 33961781, 36217029
GO:0005794	Component	Golgi apparatus	IEA
GO:0006891	Process	Intra-Golgi vesicle-mediated transport	IBA
GO:0006891	Process	Intra-Golgi vesicle-mediated transport	IEA
GO:0007030	Process	Golgi organization	IMP	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	IEA
GO:0017119	Component	Golgi transport complex	NAS	27066481
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0070085	Process	Glycosylation	IMP	20605848, 27066481

Other IDs

• MIM: 606977
• HGNC: 18621
• e!Ensembl: ENSG00000133103

Protein

• UniProt ID: Q9Y2V7
• Protein name: Conserved oligomeric Golgi complex subunit 6 (COG complex subunit 6) (Component of oligomeric Golgi complex 6)
• Protein function: Required for normal Golgi function.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06419	COG6	56 → 656	Conserved oligomeric complex COG6	Family

• Sequence:

  MAEGSGEVVAVSATGAANGLNNGAGGTSATTCNPLSRKLHKILETRLDNDKEMLEALKAL
  STFFVENSLRTRRNLRGDIERKSLAINEEFVSIFKEVKEELESISEDVQAMSNCCQDMTS
  RLQAAKEQTQDLIVKTTKLQSESQKLEIRAQVADAFLSKFQLTSDEMSLLRGTREGPITE
  DFFKALGRVKQIHNDVKVLLRTNQQTAGLEIMEQMALLQETAYERLYRWAQSECRTLTQE
  SCDVSPVLTQAMEALQDRPVLYKYTLDEFGTARRSTVVRGFIDALTRGGPGGTPRPIEMH
  SHDPLRYVGDMLAWLHQATASEKEHLEALLKHVTTQGVEENIQEVVGHITEGVCRPLKVR
  IEQVIVAEPGAVLLYKISNLLKFYHHTISGIVGNSATALLTTIEEMHLLSKKIFFNSLSL
  HASKLMDKVELPPPDLGPSSALNQTLMLLREVLASHDSSVVPLDARQADFVQVLSCVLDP
  LLQMCTVSASNLGTADMATFMVNSLYMMKTTLALFEFTDRRLEMLQFQIEAHLDTLINEQ
  ASYVLTRVGLSYIYNTVQQHKPEQGSLANMPNLDSVTLKAAMVQFDRYLSAPDNLLIPQL
  NFLLSATVKEQIVKQSTELVCRAYGEVYAAVMNPINEYKDPENILHRSPQQVQTLLS

• Sequence length: 657

Pathways

Reactome:

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

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
COG6-congenital disorder of glycosylation	Likely pathogenic; Pathogenic	rs781236436, rs2137942150, rs200812708, rs730882236, rs75701196, rs1345713239, rs2500684110, rs1190636194, rs2500752563, rs1879202581, rs387906959, rs1292534396, rs1259563970, rs200177031, rs756826030, rs1555277827, rs1593402927, rs1593421620, rs1593418085	RCV005232642 RCV001939452 RCV002049998 RCV001251035 RCV005215939 RCV003777577 RCV003333714 RCV003333715 RCV003777335 RCV003990679 RCV000023603 RCV000763333 RCV000677237 RCV000584833 RCV000584832 RCV000584830 RCV000989102 RCV001007811 RCV001030050	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COG6-related disorder	Likely pathogenic; Pathogenic	rs730882236, rs1453865021, rs1357662240	RCV000985030 RCV004529229 RCV004528747	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypohidrosis	Likely pathogenic; Pathogenic	rs730882236	RCV000162165	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	Pathogenic; Likely pathogenic	rs2137942150, rs200812708, rs730882236, rs75701196, rs1345713239, rs1292534396, rs200177031	RCV001939452 RCV002049998 RCV000050228 RCV005215939 RCV003777577 RCV000763333 RCV001853951	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs730882236	RCV000162165	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COG6-CGD	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPONENT OF OLIGOMERIC GOLGI COMPLEX 6-CONGENITAL DISORDER OF GLYCOSYLATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDERS OF GLYCOSYLATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; 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; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGOARTICULAR JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYARTICULAR JUVENILE IDIOPATHIC ARTHRITIS, RHEUMATOID FACTOR NEGATIVE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anhidrosis	Anhidrosis	BEFREE	26804344		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	20722033	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	18369459, 20722033, 24532676	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	30929738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune disease	Pubtator	18369459, 20722033	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34539936	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	18369459	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
COG6-CGD	Congenital Disorder Of Glycosylation	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone Dystrophy	Cone Dystrophy	BEFREE	11875055		★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1s	Congenital disorder of glycosylation	BEFREE	29709711		★☆☆☆☆ Found in Text Mining only
Congenital Disorder Of Glycosylation Type In	Congenital disorder of glycosylation	Pubtator	40225945	Associate	★☆☆☆☆ Found in Text Mining only
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl	Congenital disorder of glycosylation	GENOMICS_ENGLAND_DG	11980916, 20605848, 26260076, 27604308, 29709711		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl	Congenital disorder of glycosylation	BEFREE	20605848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl	Congenital disorder of glycosylation	UNIPROT_DG	20605848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl	Congenital disorder of glycosylation	ORPHANET_DG	23430903, 26260076		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl	Congenital disorder of glycosylation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl	Congenital disorder of glycosylation	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	20605848, 23606727, 26260076, 28742265, 29709711, 31420886		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	25197382		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	25197382	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	20722033	Associate	★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental enamel hypoplasia	Pubtator	40225945	Associate	★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	26260076, 29709711		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	18369459, 20722033	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	29709711		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XIV	Glycogen storage disease	Pubtator	40225945	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	18369459	Associate	★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	BEFREE	31420886		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	26260076		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	BEFREE	23606727, 26260076, 29709711		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypohidrosis	Hypohidrosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypohidrosis	Hypohidrosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Shaheen syndrome	GENOMICS_ENGLAND_DG	11980916, 26260076, 27604308, 29709711		★☆☆☆☆ Found in Text Mining only
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Shaheen syndrome	ORPHANET_DG	23606727		★☆☆☆☆ Found in Text Mining only
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome	Shaheen syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23606727		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile pauciarticular chronic arthritis	Pauciarticular chronic arthritis	GWASCAT_DG	23603761		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	GWASCAT_DG	23603761		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	27193031		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	27193031		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	26260076, 29709711		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	20722033	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligoarticular Juvenile Idiopathic Arthritis	Oligoarticular Arthritis	GWASCAT_DG	23603761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Palmoplantar Keratosis	Palmoplantar Keratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Plexiform leiomyoma	Plexiform leiomyoma	GWASCAT_DG	31649266		★☆☆☆☆ Found in Text Mining only
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative	Seronegative polyarthritis	GWASCAT_DG	23603761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	26993500		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	18369459, 25264125, 26993500		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	18369459, 26993500	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASCAT_DG	25903422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	22814393		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	38184627	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	26993500, 27193031		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	27193031		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis, Systemic Juvenile	Rheumatoid arthritis	GWASCAT_DG	23603761		★☆☆☆☆ Found in Text Mining only
Systemic onset juvenile chronic arthritis	Arthritis	GWASCAT_DG	23603761		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	GWASCAT_DG	31649266		★☆☆☆☆ Found in Text Mining only