PRKCSH (PRKCSH beta subunit of glucosidase II)

Gene

• Entrez ID: 5589
• Gene name: PRKCSH beta subunit of glucosidase II
• Gene symbol: PRKCSH
• Synonyms (NCBI Gene): 80K-H, AGE-R2, G19P1, GIIB, GIIbeta, GluIIbeta, PCLD, PCLD1, PKCSH, PLD1, VASAP-60
• Chromosome: 19
• Chromosome location: 19p13.2
• Summary: This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this gene have been associa

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs112915100	T>C	Likely-pathogenic	Splice donor variant
rs121918519	C>T	Pathogenic	Coding sequence variant, stop gained
rs121918520	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs139991238	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs398123688	G>T	Pathogenic	Stop gained, coding sequence variant
rs757957327	TG>-	Pathogenic	Intron variant, splice donor variant
rs774233325	G>C,T	Pathogenic	Splice donor variant
rs794727187	AAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555725707	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555728968	A>G	Pathogenic	Splice acceptor variant
rs1555728990	T>G	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT044099	hsa-miR-361-5p	CLASH	23622248
MIRT043699	hsa-miR-342-3p	CLASH	23622248
MIRT043014	hsa-miR-324-3p	CLASH	23622248
MIRT040594	hsa-miR-92b-3p	CLASH	23622248
MIRT039223	hsa-miR-454-3p	CLASH	23622248
MIRT038254	hsa-miR-330-5p	CLASH	23622248
MIRT1263393	hsa-miR-1	CLIP-seq
MIRT1263394	hsa-miR-1207-5p	CLIP-seq
MIRT1263395	hsa-miR-1262	CLIP-seq
MIRT1263396	hsa-miR-1275	CLIP-seq
MIRT1263397	hsa-miR-1293	CLIP-seq
MIRT1263398	hsa-miR-1321	CLIP-seq
MIRT1263399	hsa-miR-206	CLIP-seq
MIRT1263400	hsa-miR-2114	CLIP-seq
MIRT1263401	hsa-miR-23a	CLIP-seq
MIRT1263402	hsa-miR-23b	CLIP-seq
MIRT1263403	hsa-miR-23c	CLIP-seq
MIRT1263404	hsa-miR-2861	CLIP-seq
MIRT1263405	hsa-miR-3138	CLIP-seq
MIRT1263406	hsa-miR-3147	CLIP-seq
MIRT1263407	hsa-miR-3151	CLIP-seq
MIRT1263408	hsa-miR-3180	CLIP-seq
MIRT1263409	hsa-miR-3180-3p	CLIP-seq
MIRT1263410	hsa-miR-3196	CLIP-seq
MIRT1263411	hsa-miR-3616-3p	CLIP-seq
MIRT1263412	hsa-miR-3619-3p	CLIP-seq
MIRT1263413	hsa-miR-4260	CLIP-seq
MIRT1263414	hsa-miR-4266	CLIP-seq
MIRT1263415	hsa-miR-4270	CLIP-seq
MIRT1263416	hsa-miR-4286	CLIP-seq
MIRT1263417	hsa-miR-4301	CLIP-seq
MIRT1263418	hsa-miR-4425	CLIP-seq
MIRT1263419	hsa-miR-4441	CLIP-seq
MIRT1263420	hsa-miR-4446-3p	CLIP-seq
MIRT1263421	hsa-miR-4447	CLIP-seq
MIRT1263422	hsa-miR-4448	CLIP-seq
MIRT1263423	hsa-miR-4461	CLIP-seq
MIRT1263424	hsa-miR-4472	CLIP-seq
MIRT1263425	hsa-miR-4483	CLIP-seq
MIRT1263426	hsa-miR-4491	CLIP-seq
MIRT1263427	hsa-miR-4492	CLIP-seq
MIRT1263428	hsa-miR-4493	CLIP-seq
MIRT1263429	hsa-miR-4498	CLIP-seq
MIRT1263430	hsa-miR-4505	CLIP-seq
MIRT1263431	hsa-miR-4525	CLIP-seq
MIRT1263432	hsa-miR-4646-5p	CLIP-seq
MIRT1263433	hsa-miR-4649-5p	CLIP-seq
MIRT1263434	hsa-miR-4651	CLIP-seq
MIRT1263435	hsa-miR-4657	CLIP-seq
MIRT1263436	hsa-miR-4665-5p	CLIP-seq
MIRT1263437	hsa-miR-4687-3p	CLIP-seq
MIRT1263438	hsa-miR-4695-5p	CLIP-seq
MIRT1263439	hsa-miR-4701-3p	CLIP-seq
MIRT1263440	hsa-miR-4723-5p	CLIP-seq
MIRT1263441	hsa-miR-4728-5p	CLIP-seq
MIRT1263442	hsa-miR-4729	CLIP-seq
MIRT1263443	hsa-miR-4731-5p	CLIP-seq
MIRT1263444	hsa-miR-4736	CLIP-seq
MIRT1263445	hsa-miR-4739	CLIP-seq
MIRT1263446	hsa-miR-4756-5p	CLIP-seq
MIRT1263447	hsa-miR-4761-5p	CLIP-seq
MIRT1263448	hsa-miR-4763-3p	CLIP-seq
MIRT1263449	hsa-miR-4776-5p	CLIP-seq
MIRT1263450	hsa-miR-4779	CLIP-seq
MIRT1263451	hsa-miR-4800-5p	CLIP-seq
MIRT1263452	hsa-miR-513a-5p	CLIP-seq
MIRT1263453	hsa-miR-541	CLIP-seq
MIRT1263454	hsa-miR-554	CLIP-seq
MIRT1263455	hsa-miR-608	CLIP-seq
MIRT1263456	hsa-miR-613	CLIP-seq
MIRT1263457	hsa-miR-625	CLIP-seq
MIRT1263458	hsa-miR-637	CLIP-seq
MIRT1263459	hsa-miR-654-5p	CLIP-seq
MIRT1263460	hsa-miR-660	CLIP-seq
MIRT1263461	hsa-miR-661	CLIP-seq
MIRT1263462	hsa-miR-762	CLIP-seq
MIRT1263393	hsa-miR-1	CLIP-seq
MIRT2077553	hsa-miR-1205	CLIP-seq
MIRT1263394	hsa-miR-1207-5p	CLIP-seq
MIRT1263397	hsa-miR-1293	CLIP-seq
MIRT2077554	hsa-miR-1909	CLIP-seq
MIRT1263399	hsa-miR-206	CLIP-seq
MIRT1263400	hsa-miR-2114	CLIP-seq
MIRT2077555	hsa-miR-2278	CLIP-seq
MIRT1263407	hsa-miR-3151	CLIP-seq
MIRT1263408	hsa-miR-3180	CLIP-seq
MIRT1263409	hsa-miR-3180-3p	CLIP-seq
MIRT2077556	hsa-miR-3184	CLIP-seq
MIRT1263410	hsa-miR-3196	CLIP-seq
MIRT1263411	hsa-miR-3616-3p	CLIP-seq
MIRT2077557	hsa-miR-3656	CLIP-seq
MIRT2077558	hsa-miR-423-5p	CLIP-seq
MIRT1263414	hsa-miR-4266	CLIP-seq
MIRT1263416	hsa-miR-4286	CLIP-seq
MIRT2077559	hsa-miR-4297	CLIP-seq
MIRT1263417	hsa-miR-4301	CLIP-seq
MIRT2077560	hsa-miR-4323	CLIP-seq
MIRT2077561	hsa-miR-4418	CLIP-seq
MIRT1263420	hsa-miR-4446-3p	CLIP-seq
MIRT1263423	hsa-miR-4461	CLIP-seq
MIRT1263425	hsa-miR-4483	CLIP-seq
MIRT1263426	hsa-miR-4491	CLIP-seq
MIRT1263427	hsa-miR-4492	CLIP-seq
MIRT1263429	hsa-miR-4498	CLIP-seq
MIRT1263430	hsa-miR-4505	CLIP-seq
MIRT2077562	hsa-miR-4514	CLIP-seq
MIRT2077563	hsa-miR-4632	CLIP-seq
MIRT1263433	hsa-miR-4649-5p	CLIP-seq
MIRT1263434	hsa-miR-4651	CLIP-seq
MIRT1263435	hsa-miR-4657	CLIP-seq
MIRT2077564	hsa-miR-4692	CLIP-seq
MIRT1263438	hsa-miR-4695-5p	CLIP-seq
MIRT2077565	hsa-miR-4722-3p	CLIP-seq
MIRT1263443	hsa-miR-4731-5p	CLIP-seq
MIRT1263444	hsa-miR-4736	CLIP-seq
MIRT2077566	hsa-miR-4758-3p	CLIP-seq
MIRT1263447	hsa-miR-4761-5p	CLIP-seq
MIRT1263448	hsa-miR-4763-3p	CLIP-seq
MIRT1263450	hsa-miR-4779	CLIP-seq
MIRT2077567	hsa-miR-509-3-5p	CLIP-seq
MIRT2077568	hsa-miR-509-5p	CLIP-seq
MIRT1263452	hsa-miR-513a-5p	CLIP-seq
MIRT2077569	hsa-miR-532-5p	CLIP-seq
MIRT1263453	hsa-miR-541	CLIP-seq
MIRT1263454	hsa-miR-554	CLIP-seq
MIRT1263455	hsa-miR-608	CLIP-seq
MIRT1263456	hsa-miR-613	CLIP-seq
MIRT1263458	hsa-miR-637	CLIP-seq
MIRT1263459	hsa-miR-654-5p	CLIP-seq
MIRT1263462	hsa-miR-762	CLIP-seq
MIRT2077570	hsa-miR-940	CLIP-seq
MIRT1263394	hsa-miR-1207-5p	CLIP-seq
MIRT1263400	hsa-miR-2114	CLIP-seq
MIRT2077555	hsa-miR-2278	CLIP-seq
MIRT1263401	hsa-miR-23a	CLIP-seq
MIRT1263402	hsa-miR-23b	CLIP-seq
MIRT1263403	hsa-miR-23c	CLIP-seq
MIRT1263414	hsa-miR-4266	CLIP-seq
MIRT1263416	hsa-miR-4286	CLIP-seq
MIRT1263417	hsa-miR-4301	CLIP-seq
MIRT1263420	hsa-miR-4446-3p	CLIP-seq
MIRT1263421	hsa-miR-4447	CLIP-seq
MIRT1263423	hsa-miR-4461	CLIP-seq
MIRT1263424	hsa-miR-4472	CLIP-seq
MIRT1263427	hsa-miR-4492	CLIP-seq
MIRT1263429	hsa-miR-4498	CLIP-seq
MIRT1263430	hsa-miR-4505	CLIP-seq
MIRT1263433	hsa-miR-4649-5p	CLIP-seq
MIRT1263434	hsa-miR-4651	CLIP-seq
MIRT1263438	hsa-miR-4695-5p	CLIP-seq
MIRT1263442	hsa-miR-4729	CLIP-seq
MIRT1263443	hsa-miR-4731-5p	CLIP-seq
MIRT1263444	hsa-miR-4736	CLIP-seq
MIRT1263447	hsa-miR-4761-5p	CLIP-seq
MIRT1263448	hsa-miR-4763-3p	CLIP-seq
MIRT1263450	hsa-miR-4779	CLIP-seq
MIRT1263452	hsa-miR-513a-5p	CLIP-seq
MIRT1263454	hsa-miR-554	CLIP-seq
MIRT1263455	hsa-miR-608	CLIP-seq
MIRT1263458	hsa-miR-637	CLIP-seq
MIRT1263462	hsa-miR-762	CLIP-seq
MIRT1263394	hsa-miR-1207-5p	CLIP-seq
MIRT1263397	hsa-miR-1293	CLIP-seq
MIRT1263400	hsa-miR-2114	CLIP-seq
MIRT1263407	hsa-miR-3151	CLIP-seq
MIRT1263408	hsa-miR-3180	CLIP-seq
MIRT1263409	hsa-miR-3180-3p	CLIP-seq
MIRT1263410	hsa-miR-3196	CLIP-seq
MIRT1263414	hsa-miR-4266	CLIP-seq
MIRT1263417	hsa-miR-4301	CLIP-seq
MIRT1263420	hsa-miR-4446-3p	CLIP-seq
MIRT1263423	hsa-miR-4461	CLIP-seq
MIRT1263425	hsa-miR-4483	CLIP-seq
MIRT1263427	hsa-miR-4492	CLIP-seq
MIRT1263429	hsa-miR-4498	CLIP-seq
MIRT1263430	hsa-miR-4505	CLIP-seq
MIRT1263433	hsa-miR-4649-5p	CLIP-seq
MIRT1263434	hsa-miR-4651	CLIP-seq
MIRT1263438	hsa-miR-4695-5p	CLIP-seq
MIRT1263442	hsa-miR-4729	CLIP-seq
MIRT1263443	hsa-miR-4731-5p	CLIP-seq
MIRT1263444	hsa-miR-4736	CLIP-seq
MIRT1263448	hsa-miR-4763-3p	CLIP-seq
MIRT1263450	hsa-miR-4779	CLIP-seq
MIRT1263452	hsa-miR-513a-5p	CLIP-seq
MIRT1263453	hsa-miR-541	CLIP-seq
MIRT1263454	hsa-miR-554	CLIP-seq
MIRT1263455	hsa-miR-608	CLIP-seq
MIRT1263458	hsa-miR-637	CLIP-seq
MIRT1263459	hsa-miR-654-5p	CLIP-seq
MIRT1263462	hsa-miR-762	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001889	Process	Liver development	IBA
GO:0005080	Function	Protein kinase C binding	IPI	15707389
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	10929008
GO:0005783	Component	Endoplasmic reticulum	IDA	19801576
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	NAS	10929008
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006491	Process	N-glycan processing	IBA
GO:0006491	Process	N-glycan processing	IDA	10929008
GO:0017177	Component	Glucosidase II complex	IBA
GO:0017177	Component	Glucosidase II complex	IDA	10929008
GO:0017177	Component	Glucosidase II complex	IEA
GO:0017177	Component	Glucosidase II complex	IPI	10929008
GO:0035556	Process	Intracellular signal transduction	NAS	2793184, 9043864
GO:0043231	Component	Intracellular membrane-bounded organelle	IMP	10929008
GO:0044325	Function	Transmembrane transporter binding	IPI	19801576
GO:0046872	Function	Metal ion binding	IEA
GO:0051219	Function	Phosphoprotein binding	IPI	19801576

Other IDs

• MIM: 177060
• HGNC: 9411
• e!Ensembl: ENSG00000130175

Protein

• UniProt ID: P14314
• Protein name: Glucosidase 2 subunit beta (80K-H protein) (Glucosidase II subunit beta) (Protein kinase C substrate 60.1 kDa protein heavy chain) (PKCSH)
• Protein function: Regulatory subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubMed:10929008). Required for efficient PKD1/Po
• PDB: 8D43, 8EMR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12999	PRKCSH-like	1 → 174	Glucosidase II beta subunit-like	Family
  PF13202	EF-hand_5	213 → 236	EF hand	Domain
  PF13015	PRKCSH_1	373 → 523	Glucosidase II beta subunit-like protein	Family

• Sequence:

  MLLPLLLLLPMCWAVEVKRPRGVSLTNHHFYDESKPFTCLDGSATIPFDQVNDDYCDCKD
  GSDEPGTAACPNGSFHCTNTGYKPLYIPSNRVNDGVCDCCDGTDEYNSGVICENTCKEKG
  RKERESLQQMAEVTREGFRLKKILIEDWKKAREEKQKKLIELQAGKKSLEDQVEMLRTVK
  EEAEKPEREAKEQHQKLWEEQLAAAKAQQEQELAADAFKELDDDMDGTVSVTELQTHPEL
  DTDGDGALSEAEAQALLSGDTQTDATSFYDRVWAAIRDKYRSEALPTDLPAPSAPDLTEP
  KEEQPPVPSSPTEEEEEEEEEEEEEAEEEEEEEDSEEAPPPLSPPQPASPAEEDKMPPYD
  EQTQAFIDAAQEARNKFEEAERSLKDMEESIRNLEQEISFDFGPNGEFAYLYSQCYELTT
  NEYVYRLCPFKLVSQKPKLGGSPTSLGTWGSWIGPDHDKFSAMKYEQGTGCWQGPNRSTT
  VRLLCGKETMVTSTTEPSRCEYLMELMTPAACPEPPPEAPTEDDHDEL

• Sequence length: 528

Pathways

KEGG:

Protein processing in endoplasmic reticulum

Reactome:

Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
N-glycan trimming in the ER and Calnexin/Calreticulin cycle
Post-translational protein phosphorylation
Calnexin/calreticulin cycle

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
Autosomal dominant polycystic liver disease	Pathogenic; Likely pathogenic	rs779685748, rs121918520, rs1969723330, rs879147040, rs2144822186, rs2144822009, rs2144807765, rs2144826022, rs1969752491	RCV001844857 RCV001844860 RCV001844867 RCV001844872 RCV001844927 RCV001844956 RCV001844967 RCV001844996 RCV001845007	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polycystic liver disease 1	Pathogenic; Likely pathogenic	rs779685748, rs749223361, rs2144837651, rs1222631173, rs1555728968, rs774233325, rs757957327, rs121918519, rs121918520, rs1555725707, rs879147040, rs2512507349, rs1555728990, rs112915100, rs756238324, rs1970419486	RCV001353243 RCV001535991 RCV002249140 RCV005256876 RCV003319950 RCV000014143 RCV000014144 RCV000014145 RCV000014146 RCV000014147 RCV000014148 RCV004515816 RCV004547322 RCV000584819 RCV001784401 RCV001280825 RCV001280887	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PRKCSH-related disorder	Pathogenic	rs779685748	RCV003426055	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC LIVER DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	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; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acral Lentiginous Malignant Melanoma	Acral Lentiginous Malignant Melanoma	BEFREE	12839565		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27713167		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	37770978	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	23689131		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28479334, 29717122		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	17640750		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	LHGDN	17640750		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	17640750	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	23689131		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	29136407		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	31711032		★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	31711032		★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	30555342		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12841677, 17726467, 24556997, 30293781		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17726467, 23989060, 24556997, 33832505	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31673104, 38245572	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	26122663		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23644164, 32904434, 33466191	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	27713167	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	37381714	Associate	★☆☆☆☆ Found in Text Mining only
Cardiac Valvular Defect, Developmental	Developmental Cardiac Valvular Defect	UNIPROT_DG	27799408		★☆☆☆☆ Found in Text Mining only
Cardiac Valvular Defect, Developmental	Developmental Cardiac Valvular Defect	GENOMICS_ENGLAND_DG	27799408		★☆☆☆☆ Found in Text Mining only
Cardiac Valvular Defect, Developmental	Developmental Cardiac Valvular Defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	37770978	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	33645542, 37770978	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chorioretinal atrophy	Chorioretinal atrophy	BEFREE	19262438		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30207376		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	26122663		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	36131027	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26122663, 28939743		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	15668389		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36131027	Associate	★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	33142350	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29660846		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	21856269, 23209713, 27552964		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	31797996		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	11471552, 20490454		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21294846, 30622421		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	20490454		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	BEFREE	29968773		★☆☆☆☆ Found in Text Mining only
Dysequilibrium syndrome	Dysequilibrium Syndrome	BEFREE	19801576		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	21228924	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	15330336		★☆☆☆☆ Found in Text Mining only
Episodic ataxia type 2 (disorder)	Episodic Ataxia	BEFREE	9043864		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28844958		★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32074974	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25523098, 28915652		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	33142350, 33645542	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	33645542, 37770978	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	33645542	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegic migraine, familial type 1	Hemiplegic migraine	BEFREE	9043864		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	23644164	Associate	★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	37770978	Associate	★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	GWASDB_DG	22968135		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	27779208	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	17640750	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	15552646		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31797996		★☆☆☆☆ Found in Text Mining only
Infarction, Middle Cerebral Artery	Cerebral Infraction	CTD_human_DG	12374626		★☆☆☆☆ Found in Text Mining only
Isolated polycystic liver disease	Polycystic liver disease	BEFREE	20408955, 24506938		★☆☆☆☆ Found in Text Mining only
Isolated polycystic liver disease	Polycystic liver disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Kidney Diseases Cystic	Kidney disease	Pubtator	36573973	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	21326806	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32615908	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27640193		★☆☆☆☆ Found in Text Mining only
Liver cyst	Liver Cyst	BEFREE	12529853, 12577059, 15057895, 15188177, 15382167, 16835903, 18419150, 19308730, 27552964		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	38101549	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Failure	Liver failure	Pubtator	12529853, 22415584	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12841677, 24556997, 30293781		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29136407		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22890316		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20442281, 21414324, 22279038, 24556997, 24990946, 25475140, 26122663, 27793841		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12813467		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	17726467		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12839565		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	12839565		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	12839565	Associate	★☆☆☆☆ Found in Text Mining only
Middle Cerebral Artery Thrombosis	Cerebral Thrombosis	CTD_human_DG	12374626		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple renal cysts	Multiple renal cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28229303		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	28229303		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30555342		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15668389, 17726467, 22279038, 26250158, 27793841, 31320625		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	26528553		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28479334	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29088790, 30988774		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36362078	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	27713167		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32537471, 37381714, 38330578	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29571767		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	27259053	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	12529853, 33437033	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	16437702, 24506938, 30652979		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney Diseases	Polycystic kidney disease	CTD_human_DG	21685914		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	16437702, 19801576, 24506938		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Type 1 Autosomal Dominant Disease	Polycystic kidney disease	GENOMICS_ENGLAND_DG	12577059		★☆☆☆☆ Found in Text Mining only
Polycystic liver disease	Polycystic liver disease	BEFREE	12529853, 12577059, 15057895, 15133510, 15188177, 15382167, 16437702, 16835903, 18224332, 18419150, 19308730, 19801576, 20408955, 21251912, 21856269, 24506938, 24769044, 27640193, 28852309		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic liver disease	Polycystic liver disease	Pubtator	12529853, 16788219, 18587325, 23209713, 24706814, 27259053, 27552964, 30172093, 38101549	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic liver disease	Polycystic liver disease	CTD_human_DG	21685914, 24719335		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic liver disease	Polycystic liver disease	ORPHANET_DG	24886261		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic liver disease	Polycystic liver disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Presenile dementia	Senile Dementia	BEFREE	31797996		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29136407		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	29136407	Stimulate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29136407	Associate	★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	18580262		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	29437245		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	21620893		★☆☆☆☆ Found in Text Mining only
Right ventricle hypoplasia	Right ventricle hypoplasia	Pubtator	37770978	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29968773, 30555342, 31586128		★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	BEFREE	19801576		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31379206	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22890316, 26250158		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20625243, 26250158	Associate	★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	29968759	Associate	★☆☆☆☆ Found in Text Mining only
Tricuspid Atresia	Tricuspid Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid valve disease	Pubtator	37770978	Associate	★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Prolapse	Tricuspid Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	17726467	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35775110	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	37770978	Associate	★☆☆☆☆ Found in Text Mining only