STUB1 (STIP1 homology and U-box containing protein 1)

Gene

• Entrez ID: 10273
• Gene name: STIP1 homology and U-box containing protein 1
• Gene symbol: STUB1
• Synonyms (NCBI Gene): CHIP, HSPABP2, NY-CO-7, SCA48, SCAR16, SDCCAG7, UBOX1
• Chromosome: 16
• Chromosome location: 16p13.3
• Summary: This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other t

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028574	hsa-miR-30a-5p	Proteomics	18668040
MIRT029709	hsa-miR-26b-5p	Microarray	19088304
MIRT1399920	hsa-miR-1178	CLIP-seq
MIRT1399921	hsa-miR-1275	CLIP-seq
MIRT1399922	hsa-miR-1290	CLIP-seq
MIRT1399923	hsa-miR-1913	CLIP-seq
MIRT1399924	hsa-miR-1915	CLIP-seq
MIRT1399925	hsa-miR-198	CLIP-seq
MIRT1399926	hsa-miR-324-3p	CLIP-seq
MIRT1399927	hsa-miR-331-3p	CLIP-seq
MIRT1399928	hsa-miR-3677-5p	CLIP-seq
MIRT1399929	hsa-miR-3690	CLIP-seq
MIRT1399930	hsa-miR-3924	CLIP-seq
MIRT1399931	hsa-miR-3941	CLIP-seq
MIRT1399932	hsa-miR-4271	CLIP-seq
MIRT1399933	hsa-miR-4308	CLIP-seq
MIRT1399934	hsa-miR-4435	CLIP-seq
MIRT1399935	hsa-miR-4525	CLIP-seq
MIRT1399936	hsa-miR-4651	CLIP-seq
MIRT1399937	hsa-miR-466	CLIP-seq
MIRT1399938	hsa-miR-4665-5p	CLIP-seq
MIRT1399939	hsa-miR-4672	CLIP-seq
MIRT1399940	hsa-miR-4685-5p	CLIP-seq
MIRT1399941	hsa-miR-4688	CLIP-seq
MIRT1399942	hsa-miR-4723-5p	CLIP-seq
MIRT1399943	hsa-miR-4725-3p	CLIP-seq
MIRT1399944	hsa-miR-4727-5p	CLIP-seq
MIRT1399945	hsa-miR-4803	CLIP-seq
MIRT1399946	hsa-miR-520a-5p	CLIP-seq
MIRT1399947	hsa-miR-525-5p	CLIP-seq
MIRT1399948	hsa-miR-556-3p	CLIP-seq
MIRT1399949	hsa-miR-608	CLIP-seq
MIRT1399950	hsa-miR-625	CLIP-seq
MIRT1399951	hsa-miR-873	CLIP-seq
MIRT1399952	hsa-miR-922	CLIP-seq
MIRT1399921	hsa-miR-1275	CLIP-seq
MIRT2119911	hsa-miR-132	CLIP-seq
MIRT1399925	hsa-miR-198	CLIP-seq
MIRT2119912	hsa-miR-212	CLIP-seq
MIRT1399930	hsa-miR-3924	CLIP-seq
MIRT2119913	hsa-miR-4261	CLIP-seq
MIRT1399934	hsa-miR-4435	CLIP-seq
MIRT1399935	hsa-miR-4525	CLIP-seq
MIRT2119914	hsa-miR-455-3p	CLIP-seq
MIRT2119915	hsa-miR-4663	CLIP-seq
MIRT1399938	hsa-miR-4665-5p	CLIP-seq
MIRT2119916	hsa-miR-4690-3p	CLIP-seq
MIRT1399942	hsa-miR-4723-5p	CLIP-seq
MIRT2119917	hsa-miR-4728-3p	CLIP-seq
MIRT1399945	hsa-miR-4803	CLIP-seq
MIRT1399946	hsa-miR-520a-5p	CLIP-seq
MIRT1399947	hsa-miR-525-5p	CLIP-seq
MIRT2119918	hsa-miR-545	CLIP-seq
MIRT2119919	hsa-miR-548p	CLIP-seq
MIRT1399950	hsa-miR-625	CLIP-seq
MIRT1399951	hsa-miR-873	CLIP-seq
MIRT1399952	hsa-miR-922	CLIP-seq
MIRT1399921	hsa-miR-1275	CLIP-seq
MIRT2119911	hsa-miR-132	CLIP-seq
MIRT1399925	hsa-miR-198	CLIP-seq
MIRT2119912	hsa-miR-212	CLIP-seq
MIRT2119913	hsa-miR-4261	CLIP-seq
MIRT1399932	hsa-miR-4271	CLIP-seq
MIRT1399935	hsa-miR-4525	CLIP-seq
MIRT2119914	hsa-miR-455-3p	CLIP-seq
MIRT2119915	hsa-miR-4663	CLIP-seq
MIRT1399938	hsa-miR-4665-5p	CLIP-seq
MIRT2119916	hsa-miR-4690-3p	CLIP-seq
MIRT1399942	hsa-miR-4723-5p	CLIP-seq
MIRT1399943	hsa-miR-4725-3p	CLIP-seq
MIRT2119917	hsa-miR-4728-3p	CLIP-seq
MIRT1399946	hsa-miR-520a-5p	CLIP-seq
MIRT1399947	hsa-miR-525-5p	CLIP-seq
MIRT2119918	hsa-miR-545	CLIP-seq
MIRT2119919	hsa-miR-548p	CLIP-seq
MIRT1399950	hsa-miR-625	CLIP-seq
MIRT1399952	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	IDA	12150907, 16275660, 16307917
GO:0000165	Process	MAPK cascade	IEA
GO:0000165	Process	MAPK cascade	ISS
GO:0000209	Process	Protein polyubiquitination	IBA
GO:0000209	Process	Protein polyubiquitination	IDA	15781469, 16275660
GO:0000209	Process	Protein polyubiquitination	IEA
GO:0000209	Process	Protein polyubiquitination	IMP	19713937
GO:0001664	Function	G protein-coupled receptor binding	IPI	12150907
GO:0002931	Process	Response to ischemia	IEA
GO:0002931	Process	Response to ischemia	ISS
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	15466472
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	IMP	19713937
GO:0004842	Function	Ubiquitin-protein transferase activity	TAS	16307917
GO:0005515	Function	Protein binding	IPI	11146632, 16207813, 16275660, 16293251, 16307917, 16809764, 18292230, 19196961, 19423554, 19483080, 19875381, 20029029, 20588253, 20618441, 20724525, 21044950, 21358815, 21360678, 22190034, 22366786, 23431407, 23973223, 24510904, 24613385, 24658140, 24981860, 25036637, 25260751, 252
GO:0005634	Component	Nucleus	IDA	23973223
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	10330192, 16831871
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005783	Component	Endoplasmic reticulum	IDA	12150907
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IGI	18292230
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IMP	19713937, 23990462
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	ISS	18292230
GO:0006513	Process	Protein monoubiquitination	IDA	24043303
GO:0006515	Process	Protein quality control for misfolded or incompletely synthesized proteins	IBA
GO:0006515	Process	Protein quality control for misfolded or incompletely synthesized proteins	IDA	16831871
GO:0006515	Process	Protein quality control for misfolded or incompletely synthesized proteins	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0009893	Process	Positive regulation of metabolic process	IEA
GO:0010614	Process	Negative regulation of cardiac muscle hypertrophy	IEA
GO:0016567	Process	Protein ubiquitination	IDA	14610072, 16809764
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	IMP	16809764, 29883609
GO:0016740	Function	Transferase activity	IEA
GO:0019899	Function	Enzyme binding	IPI	16280320
GO:0019900	Function	Kinase binding	IPI	17512523
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IEA
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IMP	15781469, 24613385
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	TAS
GO:0030544	Function	Hsp70 protein binding	IDA	10330192, 23990462
GO:0030544	Function	Hsp70 protein binding	IPI	24613385
GO:0030674	Function	Protein-macromolecule adaptor activity	TAS	16307917
GO:0030911	Function	TPR domain binding	IDA	11146632
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IEA
GO:0031072	Function	Heat shock protein binding	IPI	16207813
GO:0031371	Component	Ubiquitin conjugating enzyme complex	TAS	16307917
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	11146632, 16831871
GO:0031398	Process	Positive regulation of protein ubiquitination	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	12150907
GO:0031647	Process	Regulation of protein stability	IDA	16809764
GO:0031943	Process	Regulation of glucocorticoid metabolic process	IDA	11146632
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA	11146632
GO:0034392	Process	Negative regulation of smooth muscle cell apoptotic process	IEA
GO:0034392	Process	Negative regulation of smooth muscle cell apoptotic process	IMP	20724525
GO:0034392	Process	Negative regulation of smooth muscle cell apoptotic process	ISS
GO:0034393	Process	Positive regulation of smooth muscle cell apoptotic process	IEA
GO:0034393	Process	Positive regulation of smooth muscle cell apoptotic process	ISS
GO:0034450	Function	Ubiquitin-ubiquitin ligase activity	IEA
GO:0034450	Function	Ubiquitin-ubiquitin ligase activity	ISS
GO:0034605	Process	Cellular response to heat	IEA
GO:0034605	Process	Cellular response to heat	ISS
GO:0035359	Process	Negative regulation of peroxisome proliferator activated receptor signaling pathway	IEA
GO:0035359	Process	Negative regulation of peroxisome proliferator activated receptor signaling pathway	ISS
GO:0036503	Process	ERAD pathway	IMP	23990462
GO:0038128	Process	ERBB2 signaling pathway	TAS
GO:0042405	Component	Nuclear inclusion body	IDA	16831871
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	23990462
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	15781469, 19713937, 24613385
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	29883609
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	TAS	19953350
GO:0045862	Process	Positive regulation of proteolysis	IBA
GO:0045862	Process	Positive regulation of proteolysis	IMP	26634371
GO:0046332	Function	SMAD binding	IPI	24613385
GO:0048156	Function	Tau protein binding	NAS	28386764
GO:0050821	Process	Protein stabilization	IDA	24043303
GO:0051087	Function	Protein-folding chaperone binding	IBA
GO:0051087	Function	Protein-folding chaperone binding	IEA
GO:0051087	Function	Protein-folding chaperone binding	IPI	16207813
GO:0051787	Function	Misfolded protein binding	IDA	16831871
GO:0051865	Process	Protein autoubiquitination	IDA	16307917, 18042044
GO:0051879	Function	Hsp90 protein binding	IDA	11146632
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	14610072, 16275660, 16809764, 19103148, 24043303, 24613385, 26265139
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IGI	16207813
GO:0061630	Function	Ubiquitin protein ligase activity	IMP	15781469, 16809764, 23990462
GO:0061630	Function	Ubiquitin protein ligase activity	TAS
GO:0061684	Process	Chaperone-mediated autophagy	IEA
GO:0070412	Function	R-SMAD binding	IPI	15781469
GO:0070534	Process	Protein K63-linked ubiquitination	IDA	16307917
GO:0071218	Process	Cellular response to misfolded protein	IBA
GO:0071218	Process	Cellular response to misfolded protein	IDA	16831871
GO:0071218	Process	Cellular response to misfolded protein	IEA
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071456	Process	Cellular response to hypoxia	ISS
GO:0090035	Process	Positive regulation of chaperone-mediated protein complex assembly	IDA	16831871
GO:0101031	Component	Protein folding chaperone complex	IPI	16207813
GO:1901526	Process	Positive regulation of mitophagy	IEA
GO:1901526	Process	Positive regulation of mitophagy	ISS
GO:1904294	Process	Positive regulation of ERAD pathway	IMP	26265139
GO:1904694	Process	Negative regulation of vascular associated smooth muscle contraction	IEA

Other IDs

• MIM: 607207
• HGNC: 11427
• e!Ensembl: ENSG00000103266

Protein

• UniProt ID: Q9UNE7
• Protein name: E3 ubiquitin-protein ligase CHIP (EC 2.3.2.27) (Antigen NY-CO-7) (CLL-associated antigen KW-8) (Carboxy terminus of Hsp70-interacting protein) (RING-type E3 ubiquitin transferase CHIP) (STIP1 homology and U box-containing protein 1)
• Protein function: E3 ubiquitin-protein ligase which targets misfolded chaperone substrates towards proteasomal degradation (PubMed:10330192, PubMed:11146632, PubMed:11557750, PubMed:23990462, PubMed:26265139). Plays a role in the maintenance of mitochondrial morp
• PDB: 4KBQ, 6EFK, 6NSV, 7TB1, 8EHZ, 8EI0, 8F14, 8F15, 8F16, 8F17, 8FYU, 8GCK, 8SUV, 9DRY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12895	ANAPC3	39 → 120		Domain
  PF18391	CHIP_TPR_N	142 → 225	CHIP N-terminal tetratricopeptide repeat domain	Domain
  PF04564	U-box	227 → 299	U-box domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in differentiated myotubes (at protein level) (PubMed:17369820). Highly expressed in skeletal muscle, heart, pancreas, brain and placenta (PubMed:10330192, PubMed:11435423). Detected in kidney, liver and lung (PubMed:10330192
• Sequence:

  MKGKEEKEGGARLGAGGGSPEKSPSAQELKEQGNRLFVGRKYPEAAACYGRAITRNPLVA
  VYYTNRALCYLKMQQHEQALADCRRALELDGQSVKAHFFLGQCQLEMESYDEAIANLQRA
  YSLAKEQRLNFGDDIPSALRIAKKKRWNSIEERRIHQESELHSYLSRLIAAERERELEEC
  QRNHEGDEDDSHVRAQQACIEAKHDKYMADMDELFSQVDEKRKKRDIPDYLCGKISFELM
  REPCITPSGITYDRKDIEEHLQRVGHFDPVTRSPLTQEQLIPNLAMKEVIDAFISENGWV
  EDY

• Sequence length: 303

Pathways

KEGG:

Ubiquitin mediated proteolysis
Protein processing in endoplasmic reticulum

Reactome:

Downregulation of TGF-beta receptor signaling
Downregulation of ERBB2 signaling
Regulation of RUNX2 expression and activity
Regulation of PTEN stability and activity
Antigen processing: Ubiquitination & Proteasome degradation

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 recessive spinocerebellar ataxia 16	Likely pathogenic; Pathogenic	rs760424025, rs1732133553, rs369941408, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs776620952, rs690016544, rs2543803363, rs2543803110, rs1555475283, rs1555475375, rs1555475794, rs1567283195, rs754446573	RCV006258536 RCV006258537 RCV006258652 RCV000114998 RCV000114999 RCV000115000 RCV000115002 RCV000115003 RCV000115004 RCV000115005 RCV002250835 RCV000149509 RCV003229792 RCV003336695 RCV000503054 RCV000504494 RCV000500739 RCV000625522 RCV000761294 RCV001559327	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs760424025	RCV005911068	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia 48	Likely pathogenic; Pathogenic	rs2151504167, rs2151504209, rs760424025, rs1732133553, rs2151507049, rs780883873, rs2151505158, rs690016544, rs1555475283, rs748984540, rs754446573, rs2039704361, rs770730338, rs2039634238, rs2039691550, rs2039704195	RCV001647176 RCV001647149 RCV001647174 RCV001647177 RCV001809156 RCV002237203 RCV002272705 RCV002468569 RCV001823003 RCV000721117 RCV001293255 RCV001254134 RCV001261528 RCV001293253 RCV001293254 RCV001293256	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATAXIA, SPINOCEREBELLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STIP1 HOMOLOGY AND U-BOX CONTAINING PROTEIN 1 DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA TYPE 48	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIAS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STUB1-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	21220432	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30669930		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxia of Phonation	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30566180		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	35943876	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	37604355	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	24742043, 28193273, 32713943, 33811518, 34070858, 36422518	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Sensory Autosomal Dominant	Ataxia, sensory, autosomal dominant	Pubtator	33811518	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	LHGDN	16831871		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	28396517, 29317501, 30058754, 31189917, 31571321, 31741143		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	30566180		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	36476347	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy of corpus callosum	Atrophy Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	12707944, 27535815, 28141934		★☆☆☆☆ Found in Text Mining only
Autonomic Nervous System Diseases	Autonomic nervous system disease	Pubtator	28193273	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal recessive cerebellar ataxia due to STUB1 deficiency	Cerebellar Ataxia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	18094050		★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	LHGDN	18094050		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	28153090		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15255181, 19198599, 25242400, 29510992, 29511337		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29510992	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37515378	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25861082, 28232384		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28346425, 30895619		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	28193273, 32713943, 36476347, 37379724	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Gordon Holmes syndrome	BEFREE	28193273, 29679845		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Cerebellar ataxia and hypogonadotropic hypogonadism	Pubtator	28193273, 29679845	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	34070858	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29167396		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	17611561		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	24742043, 25258038, 32713943, 33811518, 34070858	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	32713943	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	25258038	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24302614		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34890713	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30566180		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Delayed menarche	Delayed menarche	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	28193273, 33097556	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	25258038		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	25258038		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	25258038	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31307434		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Elliptocytosis 1	Hereditary elliptocytosis	Pubtator	25258038	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	28193273, 33097556	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	30895619		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	38110356	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26370624	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	28279658		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30566180		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	29195897		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	31400824		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	18712525		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	29510992	Associate	★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	32713943	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease-Like Syndrome	Huntington Disease-Like	BEFREE	31126790		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30566180		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	24113144, 25258038, 28193273		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	25258038, 28193273	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	25258038, 31777182		★☆☆☆☆ Found in Text Mining only
Iridocyclitis	Iridocyclitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kaufman-McKusick syndrome	Kaufman-McKusick Syndrome	BEFREE	18094050		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28536267		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	28536267	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	28536267	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30795628		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	27283392		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	28279658		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19198599, 25242400, 29510992, 29511337		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25861082, 28232384		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28346425		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20697347		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28536143, 30446660		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31084544, 31393050		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12471621, 19198599, 22669480, 27451077, 27546621, 29510992, 31130821		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	29511337		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	26254420	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	26254420	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29195897		★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	29860246		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	32553686	Inhibit	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	31571321		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	31536933		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	29860246		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22543587, 22669480, 24302614, 25635996, 27130196, 29510992, 30600426		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	28193273, 29679845, 30605842, 33097556, 35398354	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	24742043, 25259530, 28193273, 29679845, 30605842		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28232384		★☆☆☆☆ Found in Text Mining only
Nystagmus, End-Position	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	24578159		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	28346425		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20697347		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	26687649		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	12150907		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson disease	Pubtator	33811518	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	26493122		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	31776465		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28536143, 30446660		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19165527		★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic ataxia	Pubtator	24742043	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	24742043		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 11	Spinocerebellar ataxia	Pubtator	37301203	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 15	Spinocerebellar ataxia	Pubtator	28396517, 29679845, 32713943, 33097556, 36892293	Associate	★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 17	Spinocerebellar Ataxia	BEFREE	31126790		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 17	Spinocerebellar ataxia	Pubtator	34906452, 36476347	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Autosomal Recessive 8	Spinocerebellar ataxia	Pubtator	25258038	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 4	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	Spinocerebellar Ataxia	ORPHANET_DG	24113144, 24312598, 24742043, 25258038		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	Spinocerebellar Ataxia	UNIPROT_DG	24113144, 24312598, 24719489, 24742043, 25258038		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	24312598, 30381368		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	Spinocerebellar Ataxia	BEFREE	28396517, 29679845, 31189917, 31619515		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	Spinocerebellar Ataxia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	28396517, 29679845, 33097556, 33811518, 34070858, 34565360, 34906452, 35398354, 36422518, 36892293	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31084544, 31393050		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29510992		★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	30860435		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	25258038		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	25258038	Associate	★☆☆☆☆ Found in Text Mining only