BCAP31 (B cell receptor associated protein 31)

Gene

• Entrez ID: 10134
• Gene name: B cell receptor associated protein 31
• Gene symbol: BCAP31
• Synonyms (NCBI Gene): 6C6-AG, BAP31, CDM, DDCH, DELXQ28, DXS1357E, MICRODELXq28
• Chromosome: X
• Chromosome location: Xq28
• Summary: This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endopla

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs111450526	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs397515620	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs879255569	T>C,G	Pathogenic	Splice acceptor variant
rs886041892	GA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1064794057	A>C	Not-provided, pathogenic	Splice donor variant
rs1557047954	AG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1603223001	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049973	hsa-miR-29a-3p	CLASH	23622248
MIRT042706	hsa-miR-346	CLASH	23622248
MIRT817461	hsa-miR-1243	CLIP-seq
MIRT817462	hsa-miR-1266	CLIP-seq
MIRT817463	hsa-miR-1275	CLIP-seq
MIRT817464	hsa-miR-1278	CLIP-seq
MIRT817465	hsa-miR-1280	CLIP-seq
MIRT817466	hsa-miR-15a	CLIP-seq
MIRT817467	hsa-miR-15b	CLIP-seq
MIRT817468	hsa-miR-16	CLIP-seq
MIRT817469	hsa-miR-195	CLIP-seq
MIRT817470	hsa-miR-214	CLIP-seq
MIRT817471	hsa-miR-298	CLIP-seq
MIRT817472	hsa-miR-3154	CLIP-seq
MIRT817473	hsa-miR-3160-3p	CLIP-seq
MIRT817474	hsa-miR-3190	CLIP-seq
MIRT817475	hsa-miR-3202	CLIP-seq
MIRT817476	hsa-miR-3619-5p	CLIP-seq
MIRT817477	hsa-miR-3622a-5p	CLIP-seq
MIRT817478	hsa-miR-3654	CLIP-seq
MIRT817479	hsa-miR-3664-3p	CLIP-seq
MIRT817480	hsa-miR-424	CLIP-seq
MIRT817481	hsa-miR-4269	CLIP-seq
MIRT817482	hsa-miR-4271	CLIP-seq
MIRT817483	hsa-miR-4323	CLIP-seq
MIRT817484	hsa-miR-4419a	CLIP-seq
MIRT817485	hsa-miR-4487	CLIP-seq
MIRT817486	hsa-miR-4510	CLIP-seq
MIRT817487	hsa-miR-4518	CLIP-seq
MIRT817488	hsa-miR-4525	CLIP-seq
MIRT817489	hsa-miR-4533	CLIP-seq
MIRT817490	hsa-miR-4665-5p	CLIP-seq
MIRT817491	hsa-miR-4690-3p	CLIP-seq
MIRT817492	hsa-miR-4690-5p	CLIP-seq
MIRT817493	hsa-miR-4723-5p	CLIP-seq
MIRT817494	hsa-miR-4725-3p	CLIP-seq
MIRT817495	hsa-miR-4755-3p	CLIP-seq
MIRT817496	hsa-miR-4758-3p	CLIP-seq
MIRT817497	hsa-miR-497	CLIP-seq
MIRT817498	hsa-miR-556-5p	CLIP-seq
MIRT817499	hsa-miR-558	CLIP-seq
MIRT817500	hsa-miR-625	CLIP-seq
MIRT817501	hsa-miR-761	CLIP-seq
MIRT817502	hsa-miR-873	CLIP-seq
MIRT2180534	hsa-miR-1972	CLIP-seq
MIRT2180535	hsa-miR-2277-3p	CLIP-seq
MIRT2180536	hsa-miR-3120-3p	CLIP-seq
MIRT2180537	hsa-miR-331-3p	CLIP-seq
MIRT2180538	hsa-miR-335	CLIP-seq
MIRT2180539	hsa-miR-371-5p	CLIP-seq
MIRT2180540	hsa-miR-3908	CLIP-seq
MIRT2180541	hsa-miR-3912	CLIP-seq
MIRT2180542	hsa-miR-3925-3p	CLIP-seq
MIRT2180543	hsa-miR-3942-5p	CLIP-seq
MIRT2180544	hsa-miR-4283	CLIP-seq
MIRT2180545	hsa-miR-4437	CLIP-seq
MIRT2180546	hsa-miR-4539	CLIP-seq
MIRT2180547	hsa-miR-455-3p	CLIP-seq
MIRT2180548	hsa-miR-4667-3p	CLIP-seq
MIRT2180549	hsa-miR-4703-5p	CLIP-seq
MIRT817495	hsa-miR-4755-3p	CLIP-seq
MIRT2180550	hsa-miR-4766-3p	CLIP-seq
MIRT2180551	hsa-miR-508-5p	CLIP-seq
MIRT2180552	hsa-miR-545	CLIP-seq
MIRT2180547	hsa-miR-455-3p	CLIP-seq
MIRT2180548	hsa-miR-4667-3p	CLIP-seq
MIRT2483876	hsa-miR-1227	CLIP-seq
MIRT817461	hsa-miR-1243	CLIP-seq
MIRT2483877	hsa-miR-1270	CLIP-seq
MIRT817463	hsa-miR-1275	CLIP-seq
MIRT817464	hsa-miR-1278	CLIP-seq
MIRT2483878	hsa-miR-137	CLIP-seq
MIRT2483879	hsa-miR-143	CLIP-seq
MIRT2483880	hsa-miR-1539	CLIP-seq
MIRT2483881	hsa-miR-185	CLIP-seq
MIRT2180534	hsa-miR-1972	CLIP-seq
MIRT2483882	hsa-miR-1976	CLIP-seq
MIRT2483883	hsa-miR-218	CLIP-seq
MIRT2180535	hsa-miR-2277-3p	CLIP-seq
MIRT817471	hsa-miR-298	CLIP-seq
MIRT2180536	hsa-miR-3120-3p	CLIP-seq
MIRT2483884	hsa-miR-3138	CLIP-seq
MIRT817472	hsa-miR-3154	CLIP-seq
MIRT2483885	hsa-miR-3157-3p	CLIP-seq
MIRT817473	hsa-miR-3160-3p	CLIP-seq
MIRT817474	hsa-miR-3190	CLIP-seq
MIRT2483886	hsa-miR-3193	CLIP-seq
MIRT817475	hsa-miR-3202	CLIP-seq
MIRT2180537	hsa-miR-331-3p	CLIP-seq
MIRT2180538	hsa-miR-335	CLIP-seq
MIRT817478	hsa-miR-3654	CLIP-seq
MIRT2180540	hsa-miR-3908	CLIP-seq
MIRT2483887	hsa-miR-3911	CLIP-seq
MIRT2180541	hsa-miR-3912	CLIP-seq
MIRT2180542	hsa-miR-3925-3p	CLIP-seq
MIRT2483888	hsa-miR-3937	CLIP-seq
MIRT2180543	hsa-miR-3942-5p	CLIP-seq
MIRT817482	hsa-miR-4271	CLIP-seq
MIRT2483889	hsa-miR-4290	CLIP-seq
MIRT2483890	hsa-miR-4306	CLIP-seq
MIRT2483891	hsa-miR-432	CLIP-seq
MIRT817484	hsa-miR-4419a	CLIP-seq
MIRT2483892	hsa-miR-4435	CLIP-seq
MIRT817485	hsa-miR-4487	CLIP-seq
MIRT817486	hsa-miR-4510	CLIP-seq
MIRT817488	hsa-miR-4525	CLIP-seq
MIRT2483893	hsa-miR-4531	CLIP-seq
MIRT817489	hsa-miR-4533	CLIP-seq
MIRT2180546	hsa-miR-4539	CLIP-seq
MIRT2180547	hsa-miR-455-3p	CLIP-seq
MIRT2483894	hsa-miR-4636	CLIP-seq
MIRT2483895	hsa-miR-4644	CLIP-seq
MIRT2483896	hsa-miR-4650-5p	CLIP-seq
MIRT817490	hsa-miR-4665-5p	CLIP-seq
MIRT2180548	hsa-miR-4667-3p	CLIP-seq
MIRT2483897	hsa-miR-4693-3p	CLIP-seq
MIRT2180549	hsa-miR-4703-5p	CLIP-seq
MIRT817493	hsa-miR-4723-5p	CLIP-seq
MIRT817494	hsa-miR-4725-3p	CLIP-seq
MIRT2483898	hsa-miR-4734	CLIP-seq
MIRT817495	hsa-miR-4755-3p	CLIP-seq
MIRT2180550	hsa-miR-4766-3p	CLIP-seq
MIRT2483899	hsa-miR-4770	CLIP-seq
MIRT2483900	hsa-miR-4800-5p	CLIP-seq
MIRT2180551	hsa-miR-508-5p	CLIP-seq
MIRT2180552	hsa-miR-545	CLIP-seq
MIRT2483901	hsa-miR-549	CLIP-seq
MIRT817498	hsa-miR-556-5p	CLIP-seq
MIRT817499	hsa-miR-558	CLIP-seq
MIRT2483902	hsa-miR-574-3p	CLIP-seq
MIRT2483903	hsa-miR-574-5p	CLIP-seq
MIRT2483904	hsa-miR-620	CLIP-seq
MIRT817500	hsa-miR-625	CLIP-seq
MIRT2483905	hsa-miR-636	CLIP-seq
MIRT2483906	hsa-miR-874	CLIP-seq
MIRT2483876	hsa-miR-1227	CLIP-seq
MIRT2483877	hsa-miR-1270	CLIP-seq
MIRT817463	hsa-miR-1275	CLIP-seq
MIRT2483878	hsa-miR-137	CLIP-seq
MIRT2483879	hsa-miR-143	CLIP-seq
MIRT2483880	hsa-miR-1539	CLIP-seq
MIRT2483881	hsa-miR-185	CLIP-seq
MIRT2180534	hsa-miR-1972	CLIP-seq
MIRT2483882	hsa-miR-1976	CLIP-seq
MIRT2483883	hsa-miR-218	CLIP-seq
MIRT2180535	hsa-miR-2277-3p	CLIP-seq
MIRT817471	hsa-miR-298	CLIP-seq
MIRT2180536	hsa-miR-3120-3p	CLIP-seq
MIRT2483884	hsa-miR-3138	CLIP-seq
MIRT817472	hsa-miR-3154	CLIP-seq
MIRT2483885	hsa-miR-3157-3p	CLIP-seq
MIRT817473	hsa-miR-3160-3p	CLIP-seq
MIRT817474	hsa-miR-3190	CLIP-seq
MIRT2483886	hsa-miR-3193	CLIP-seq
MIRT817475	hsa-miR-3202	CLIP-seq
MIRT2180537	hsa-miR-331-3p	CLIP-seq
MIRT2180538	hsa-miR-335	CLIP-seq
MIRT2180540	hsa-miR-3908	CLIP-seq
MIRT2483887	hsa-miR-3911	CLIP-seq
MIRT2180541	hsa-miR-3912	CLIP-seq
MIRT2180542	hsa-miR-3925-3p	CLIP-seq
MIRT2483888	hsa-miR-3937	CLIP-seq
MIRT2180543	hsa-miR-3942-5p	CLIP-seq
MIRT817482	hsa-miR-4271	CLIP-seq
MIRT2483889	hsa-miR-4290	CLIP-seq
MIRT2483890	hsa-miR-4306	CLIP-seq
MIRT2483891	hsa-miR-432	CLIP-seq
MIRT2483892	hsa-miR-4435	CLIP-seq
MIRT817485	hsa-miR-4487	CLIP-seq
MIRT817488	hsa-miR-4525	CLIP-seq
MIRT2483893	hsa-miR-4531	CLIP-seq
MIRT817489	hsa-miR-4533	CLIP-seq
MIRT2180546	hsa-miR-4539	CLIP-seq
MIRT2180547	hsa-miR-455-3p	CLIP-seq
MIRT2483894	hsa-miR-4636	CLIP-seq
MIRT2675888	hsa-miR-4637	CLIP-seq
MIRT2483895	hsa-miR-4644	CLIP-seq
MIRT2483896	hsa-miR-4650-5p	CLIP-seq
MIRT817490	hsa-miR-4665-5p	CLIP-seq
MIRT2180548	hsa-miR-4667-3p	CLIP-seq
MIRT2483897	hsa-miR-4693-3p	CLIP-seq
MIRT2180549	hsa-miR-4703-5p	CLIP-seq
MIRT817493	hsa-miR-4723-5p	CLIP-seq
MIRT817494	hsa-miR-4725-3p	CLIP-seq
MIRT2483898	hsa-miR-4734	CLIP-seq
MIRT817495	hsa-miR-4755-3p	CLIP-seq
MIRT2180550	hsa-miR-4766-3p	CLIP-seq
MIRT2483899	hsa-miR-4770	CLIP-seq
MIRT2483900	hsa-miR-4800-5p	CLIP-seq
MIRT2180551	hsa-miR-508-5p	CLIP-seq
MIRT2180552	hsa-miR-545	CLIP-seq
MIRT2483901	hsa-miR-549	CLIP-seq
MIRT817498	hsa-miR-556-5p	CLIP-seq
MIRT817499	hsa-miR-558	CLIP-seq
MIRT2675889	hsa-miR-570	CLIP-seq
MIRT2483902	hsa-miR-574-3p	CLIP-seq
MIRT2483903	hsa-miR-574-5p	CLIP-seq
MIRT2483904	hsa-miR-620	CLIP-seq
MIRT817500	hsa-miR-625	CLIP-seq
MIRT2483905	hsa-miR-636	CLIP-seq
MIRT2483906	hsa-miR-874	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0005515	Function	Protein binding	IPI	9334338, 15024066, 17500595, 18555783, 21183955, 25854864, 30021884, 31206022, 32296183, 32814053, 33961781, 35271311, 36012204
GO:0005783	Component	Endoplasmic reticulum	IDA	18555783, 19401338, 21183955, 24454821
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005811	Component	Lipid droplet	IDA	14741744
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	8706661
GO:0006626	Process	Protein targeting to mitochondrion	IGI	31206022
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IBA
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	IDA	31206022
GO:0042288	Function	MHC class I protein binding	IEA
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane contact site	IDA	31206022
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0070973	Process	Protein localization to endoplasmic reticulum exit site	IBA
GO:0070973	Process	Protein localization to endoplasmic reticulum exit site	IEA
GO:0097038	Component	Perinuclear endoplasmic reticulum	IDA	25854864
GO:0098553	Component	Lumenal side of endoplasmic reticulum membrane	TAS
GO:1904154	Process	Positive regulation of retrograde protein transport, ER to cytosol	IDA	18555783
GO:1904294	Process	Positive regulation of ERAD pathway	IGI	18555783
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	IDA	18555783
GO:2001244	Process	Positive regulation of intrinsic apoptotic signaling pathway	IMP	21183955

Other IDs

• MIM: 300398
• HGNC: 16695
• e!Ensembl: ENSG00000185825

Protein

• UniProt ID: P51572
• Protein name: B-cell receptor-associated protein 31 (BCR-associated protein 31) (Bap31) (6C6-AG tumor-associated antigen) (Protein CDM) (p28)
• Protein function: Functions as a chaperone protein (PubMed:18287538, PubMed:9396746). Is one of the most abundant endoplasmic reticulum (ER) proteins (PubMed:18287538, PubMed:9396746). Plays a role in the export of secreted proteins in the ER, the recognition of
• PDB: 4JZL, 4JZP, 8XWX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05529	Bap31	1 → 136	Bap31/Bap29 transmembrane region	Family
  PF18035	Bap31_Bap29_C	179 → 246	Bap31/Bap29 cytoplasmic coiled-coil domain	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Highly expressed in neurons and discrete endocrine cells. {ECO:0000269|PubMed:11561007}.
• Sequence:

  MSLQWTAVATFLYAEVFVVLLLCIPFISPKRWQKIFKSRLVELLVSYGNTFFVVLIVILV
  LLVIDAVREIRKYDDVTEKVNLQNNPGAMEHFHMKLFRAQRNLYIAGFSLLLSFLLRRLV
  TLISQQATLLASNEAFKKQAESASEAAKKYMEENDQLKKGAAVDGGKLDVGNAEVKLEEE
  NRSLKADLQKLKDELASTKQKLEKAENQVLAMRKQSEGLTKEYDRLLEEHAKLQAAVDGP
  MDKKEE

• Sequence length: 246

Pathways

KEGG:

Protein processing in endoplasmic reticulum
Human papillomavirus infection

Reactome:

Apoptotic cleavage of cellular proteins
Apoptotic execution phase
Antigen Presentation: Folding, assembly and peptide loading of class I MHC

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
BCAP31-related disorder	Pathogenic	rs2148370601	RCV001825183	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	Pathogenic	rs1057518721, rs1064794057, rs1557047954, rs1603223001, rs879255569, rs397515620	RCV000415452 RCV000509475 RCV000578429 RCV000990971 RCV000059314 RCV000059316	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs1064794057, rs397515620	RCV005899646 RCV005890407	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CONTIGUOUS ABCD1-DXS1375E DELETION SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenoleukodystrophy	Adrenoleukodystrophy	LHGDN	11992258		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	24597975		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	18474092, 3014050		★☆☆☆☆ Found in Text Mining only
Atrophy of corpus callosum	Atrophy Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29740452		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	16639698		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	24011989	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	30895406		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21710262, 24553345, 29556341		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	40649753	Associate	★☆☆☆☆ Found in Text Mining only
CADDS	Contiguous ABCD1 DXS1357E Deletion Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35449837	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37108785	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	31535369		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30022068, 30503502		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30022068, 30503502		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	24597975		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	30504720		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29653744, 30770794		★☆☆☆☆ Found in Text Mining only
Contiguous Abcd1-Dxs1375e Deletion Syndrome	Contiguous ABCD1 DXS1357E Deletion Syndrome	BEFREE	22994209		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Contiguous Abcd1-Dxs1375e Deletion Syndrome	Contiguous ABCD1 DXS1357E Deletion Syndrome	ORPHANET_DG	22994209, 24011989		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Contiguous Abcd1-Dxs1375e Deletion Syndrome	Contiguous ABCD1 DXS1357E Deletion Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Creatine deficiency, X-linked	Creatine deficiency	BEFREE	24597975		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	30504720		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	24011989, 33603160	Associate	★☆☆☆☆ Found in Text Mining only
DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION	Deafness	GENOMICS_ENGLAND_DG	24011989		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION	Deafness	ORPHANET_DG	24011989		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION	Deafness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Demyelinating Diseases	Demyelinating diseases	Pubtator	24011989, 33603160	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30421323		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	28332767		★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	24011989, 33603160	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	22472424, 24597975		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	29599005, 30981282		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	28332767		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	19901563		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	34257547	Associate	★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	9382102		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	29113994, 30081561		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30895406		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	24597975, 28332767		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hearing Loss Sensorineural	Hearing loss	Pubtator	24011989	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30421323		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	24011989, 33603160	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30504720		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	33011346	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22913272, 27040643		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	33603160	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21710262, 24553345, 29556341		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31357893		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30338855		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21359144, 24395279, 29556341, 30503502		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30022068, 30503502		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24553345, 25903101		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30421323		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	31953925	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	BEFREE	28332767		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	28332767		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29740452		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	9382102		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28266538		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	9382102		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	20484596		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1384657, 16639698, 30338855, 30770794, 31357893, 31671609		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29113994		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	27996285		★☆☆☆☆ Found in Text Mining only
Quadriplegia	Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	31788758		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28214898		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	22472424, 28332767		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	25348624		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Steatohepatitis	Fatty Liver	BEFREE	29113994, 30081561		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30338855		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37296105, 40649753	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31588230		★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	BEFREE	22994209		★☆☆☆☆ Found in Text Mining only