GLB1 (galactosidase beta 1)

Gene

• Entrez ID: 2720
• Gene name: Galactosidase beta 1
• Gene symbol: GLB1
• Synonyms (NCBI Gene): EBP, ELNR1, MPS4B
• Chromosome: 3
• Chromosome location: 3p22.3
• Summary: This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzy

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1803200	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs28934274	C>T	Pathogenic, likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs72555358	G>A	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72555360	G>A	Likely-pathogenic, pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs72555361	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs72555362	C>A	Pathogenic	Coding sequence variant, missense variant
rs72555363	C>A	Pathogenic	Coding sequence variant, missense variant
rs72555364	A>C,G	Pathogenic	Intron variant, coding sequence variant, missense variant
rs72555366	G>A	Pathogenic	Intron variant, coding sequence variant, missense variant
rs72555368	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs72555370	G>A	Pathogenic	Coding sequence variant, missense variant
rs72555371	T>C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72555372	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs72555373	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs72555390	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72555392	C>T	Pathogenic	Coding sequence variant, missense variant
rs72555393	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs189115557	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs192732174	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs371397760	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs371546950	T>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs371582179	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs376663785	A>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs376710410	A>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, synonymous variant
rs397515616	A>G	Likely-pathogenic, not-provided	Missense variant, coding sequence variant, intron variant
rs397515617	A>G	Likely-pathogenic, not-provided	Missense variant, coding sequence variant, synonymous variant
rs398123347	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs398123350	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, synonymous variant
rs398123351	C>T	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs398123353	C>T	Likely-pathogenic, pathogenic	Splice acceptor variant, intron variant
rs398123354	A>G	Pathogenic	Splice donor variant, intron variant
rs398123355	A>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs572237881	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs587776524	->CCAGGGCTCATGAAAGTTCCAGG	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587776526	T>C	Pathogenic	Splice acceptor variant
rs587779404	A>G	Pathogenic	Missense variant, coding sequence variant
rs727503954	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs745386663	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs745864233	C>T	Pathogenic, likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs746766232	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs748830051	C>T	Pathogenic, likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs749980306	C>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs750531880	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs754131566	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs756878418	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs767704163	TA>-	Pathogenic	Coding sequence variant, stop gained
rs776327443	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs778375259	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs778423653	C>G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs778700089	G>A	Pathogenic, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs794727165	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs794727249	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729217	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs886042079	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1041204916	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1057517738	A>G	Pathogenic	Intron variant, splice donor variant
rs1057524868	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794737	AGGCAATGAACACTCACAAGTTCACACTCG>GGCAAGTATATACTTGCCT	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1282958432	GATTCTTACCAAGGGTCCTTTGGGCTCACACTTCCTC>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1553606091	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1553606128	->CT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553606130	AGAG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553610382	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553610553	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1553611016	AAC>-	Likely-pathogenic	Splice donor variant, intron variant
rs1553611025	->C	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553611040	ACCA>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553611044	T>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553611778	A>G	Likely-pathogenic	Splice donor variant
rs1553611789	G>A	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1553612143	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1553612145	ATAGA>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553612150	TT>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553612213	T>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1559401428	CA>AG	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1575451526	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1575459735	C>G	Pathogenic	Splice acceptor variant, intron variant
rs1575471281	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1575475703	T>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020509	hsa-miR-155-5p	Proteomics	18668040
MIRT032234	hsa-let-7b-5p	Proteomics	18668040
MIRT1020321	hsa-let-7a	CLIP-seq
MIRT1020322	hsa-let-7b	CLIP-seq
MIRT1020323	hsa-let-7c	CLIP-seq
MIRT1020324	hsa-let-7d	CLIP-seq
MIRT1020325	hsa-let-7e	CLIP-seq
MIRT1020326	hsa-let-7f	CLIP-seq
MIRT1020327	hsa-let-7g	CLIP-seq
MIRT1020328	hsa-let-7i	CLIP-seq
MIRT1020329	hsa-miR-1294	CLIP-seq
MIRT1020330	hsa-miR-1297	CLIP-seq
MIRT1020331	hsa-miR-1321	CLIP-seq
MIRT1020332	hsa-miR-202	CLIP-seq
MIRT1020333	hsa-miR-203	CLIP-seq
MIRT1020334	hsa-miR-224	CLIP-seq
MIRT1020335	hsa-miR-26a	CLIP-seq
MIRT1020336	hsa-miR-26b	CLIP-seq
MIRT1020337	hsa-miR-3545-3p	CLIP-seq
MIRT1020338	hsa-miR-3606	CLIP-seq
MIRT1020339	hsa-miR-3616-5p	CLIP-seq
MIRT1020340	hsa-miR-3622b-5p	CLIP-seq
MIRT1020341	hsa-miR-3647-3p	CLIP-seq
MIRT1020342	hsa-miR-3647-5p	CLIP-seq
MIRT1020343	hsa-miR-3688-5p	CLIP-seq
MIRT1020344	hsa-miR-3692	CLIP-seq
MIRT1020345	hsa-miR-4270	CLIP-seq
MIRT1020346	hsa-miR-4276	CLIP-seq
MIRT1020347	hsa-miR-4316	CLIP-seq
MIRT1020348	hsa-miR-4441	CLIP-seq
MIRT1020349	hsa-miR-4458	CLIP-seq
MIRT1020350	hsa-miR-4465	CLIP-seq
MIRT1020351	hsa-miR-4500	CLIP-seq
MIRT1020352	hsa-miR-4677-3p	CLIP-seq
MIRT1020353	hsa-miR-4679	CLIP-seq
MIRT1020354	hsa-miR-4739	CLIP-seq
MIRT1020355	hsa-miR-4756-5p	CLIP-seq
MIRT1020356	hsa-miR-4795-5p	CLIP-seq
MIRT1020357	hsa-miR-495	CLIP-seq
MIRT1020358	hsa-miR-501-5p	CLIP-seq
MIRT1020359	hsa-miR-548ag	CLIP-seq
MIRT1020360	hsa-miR-548ai	CLIP-seq
MIRT1020361	hsa-miR-548m	CLIP-seq
MIRT1020362	hsa-miR-567	CLIP-seq
MIRT1020363	hsa-miR-573	CLIP-seq
MIRT1020364	hsa-miR-587	CLIP-seq
MIRT1020365	hsa-miR-921	CLIP-seq
MIRT1020366	hsa-miR-98	CLIP-seq
MIRT1020321	hsa-let-7a	CLIP-seq
MIRT1020322	hsa-let-7b	CLIP-seq
MIRT1020323	hsa-let-7c	CLIP-seq
MIRT1020324	hsa-let-7d	CLIP-seq
MIRT1020325	hsa-let-7e	CLIP-seq
MIRT1020326	hsa-let-7f	CLIP-seq
MIRT1020327	hsa-let-7g	CLIP-seq
MIRT1020328	hsa-let-7i	CLIP-seq
MIRT1020329	hsa-miR-1294	CLIP-seq
MIRT1020332	hsa-miR-202	CLIP-seq
MIRT1549249	hsa-miR-3127-5p	CLIP-seq
MIRT1549250	hsa-miR-3132	CLIP-seq
MIRT1020347	hsa-miR-4316	CLIP-seq
MIRT1020349	hsa-miR-4458	CLIP-seq
MIRT1020351	hsa-miR-4500	CLIP-seq
MIRT1549251	hsa-miR-4650-3p	CLIP-seq
MIRT1020352	hsa-miR-4677-3p	CLIP-seq
MIRT1020353	hsa-miR-4679	CLIP-seq
MIRT1020362	hsa-miR-567	CLIP-seq
MIRT1020366	hsa-miR-98	CLIP-seq
MIRT1020321	hsa-let-7a	CLIP-seq
MIRT1020322	hsa-let-7b	CLIP-seq
MIRT1020323	hsa-let-7c	CLIP-seq
MIRT1020324	hsa-let-7d	CLIP-seq
MIRT1020325	hsa-let-7e	CLIP-seq
MIRT1020326	hsa-let-7f	CLIP-seq
MIRT1020327	hsa-let-7g	CLIP-seq
MIRT1020328	hsa-let-7i	CLIP-seq
MIRT1020329	hsa-miR-1294	CLIP-seq
MIRT1020332	hsa-miR-202	CLIP-seq
MIRT1020334	hsa-miR-224	CLIP-seq
MIRT1549249	hsa-miR-3127-5p	CLIP-seq
MIRT1549250	hsa-miR-3132	CLIP-seq
MIRT2002157	hsa-miR-320a	CLIP-seq
MIRT2002158	hsa-miR-320b	CLIP-seq
MIRT2002159	hsa-miR-320c	CLIP-seq
MIRT2002160	hsa-miR-320d	CLIP-seq
MIRT1020347	hsa-miR-4316	CLIP-seq
MIRT2002161	hsa-miR-4429	CLIP-seq
MIRT2002162	hsa-miR-4438	CLIP-seq
MIRT1020349	hsa-miR-4458	CLIP-seq
MIRT1020351	hsa-miR-4500	CLIP-seq
MIRT1549251	hsa-miR-4650-3p	CLIP-seq
MIRT1020352	hsa-miR-4677-3p	CLIP-seq
MIRT1020353	hsa-miR-4679	CLIP-seq
MIRT1020362	hsa-miR-567	CLIP-seq
MIRT1020366	hsa-miR-98	CLIP-seq
MIRT1020321	hsa-let-7a	CLIP-seq
MIRT1020322	hsa-let-7b	CLIP-seq
MIRT1020323	hsa-let-7c	CLIP-seq
MIRT1020324	hsa-let-7d	CLIP-seq
MIRT1020325	hsa-let-7e	CLIP-seq
MIRT1020326	hsa-let-7f	CLIP-seq
MIRT1020327	hsa-let-7g	CLIP-seq
MIRT1020328	hsa-let-7i	CLIP-seq
MIRT2538940	hsa-miR-1205	CLIP-seq
MIRT2538941	hsa-miR-125a-3p	CLIP-seq
MIRT2538942	hsa-miR-125a-5p	CLIP-seq
MIRT2538943	hsa-miR-125b	CLIP-seq
MIRT2538944	hsa-miR-1271	CLIP-seq
MIRT1020329	hsa-miR-1294	CLIP-seq
MIRT1020331	hsa-miR-1321	CLIP-seq
MIRT2538945	hsa-miR-182	CLIP-seq
MIRT2538946	hsa-miR-1909	CLIP-seq
MIRT1020332	hsa-miR-202	CLIP-seq
MIRT1020333	hsa-miR-203	CLIP-seq
MIRT1549249	hsa-miR-3127-5p	CLIP-seq
MIRT1549250	hsa-miR-3132	CLIP-seq
MIRT2538947	hsa-miR-3151	CLIP-seq
MIRT2538948	hsa-miR-323-5p	CLIP-seq
MIRT1020340	hsa-miR-3622b-5p	CLIP-seq
MIRT1020341	hsa-miR-3647-3p	CLIP-seq
MIRT1020343	hsa-miR-3688-5p	CLIP-seq
MIRT1020344	hsa-miR-3692	CLIP-seq
MIRT2538949	hsa-miR-377	CLIP-seq
MIRT2538950	hsa-miR-3934	CLIP-seq
MIRT1020345	hsa-miR-4270	CLIP-seq
MIRT1020346	hsa-miR-4276	CLIP-seq
MIRT2538951	hsa-miR-4281	CLIP-seq
MIRT2538952	hsa-miR-4283	CLIP-seq
MIRT1020347	hsa-miR-4316	CLIP-seq
MIRT2538953	hsa-miR-4319	CLIP-seq
MIRT2538954	hsa-miR-4418	CLIP-seq
MIRT1020348	hsa-miR-4441	CLIP-seq
MIRT1020349	hsa-miR-4458	CLIP-seq
MIRT2538955	hsa-miR-4489	CLIP-seq
MIRT1020351	hsa-miR-4500	CLIP-seq
MIRT1549251	hsa-miR-4650-3p	CLIP-seq
MIRT1020352	hsa-miR-4677-3p	CLIP-seq
MIRT1020353	hsa-miR-4679	CLIP-seq
MIRT2538956	hsa-miR-4732-3p	CLIP-seq
MIRT1020354	hsa-miR-4739	CLIP-seq
MIRT1020355	hsa-miR-4756-5p	CLIP-seq
MIRT2538957	hsa-miR-493	CLIP-seq
MIRT2538958	hsa-miR-509-3-5p	CLIP-seq
MIRT2538959	hsa-miR-509-5p	CLIP-seq
MIRT1020362	hsa-miR-567	CLIP-seq
MIRT1020364	hsa-miR-587	CLIP-seq
MIRT2538960	hsa-miR-670	CLIP-seq
MIRT2538961	hsa-miR-764	CLIP-seq
MIRT2538962	hsa-miR-96	CLIP-seq
MIRT1020366	hsa-miR-98	CLIP-seq
MIRT1020321	hsa-let-7a	CLIP-seq
MIRT1020322	hsa-let-7b	CLIP-seq
MIRT1020323	hsa-let-7c	CLIP-seq
MIRT1020324	hsa-let-7d	CLIP-seq
MIRT1020325	hsa-let-7e	CLIP-seq
MIRT1020326	hsa-let-7f	CLIP-seq
MIRT1020327	hsa-let-7g	CLIP-seq
MIRT1020328	hsa-let-7i	CLIP-seq
MIRT2538940	hsa-miR-1205	CLIP-seq
MIRT2538941	hsa-miR-125a-3p	CLIP-seq
MIRT2538942	hsa-miR-125a-5p	CLIP-seq
MIRT2538943	hsa-miR-125b	CLIP-seq
MIRT2538944	hsa-miR-1271	CLIP-seq
MIRT1020329	hsa-miR-1294	CLIP-seq
MIRT1020331	hsa-miR-1321	CLIP-seq
MIRT2538945	hsa-miR-182	CLIP-seq
MIRT2538946	hsa-miR-1909	CLIP-seq
MIRT1020332	hsa-miR-202	CLIP-seq
MIRT1020333	hsa-miR-203	CLIP-seq
MIRT1549249	hsa-miR-3127-5p	CLIP-seq
MIRT1549250	hsa-miR-3132	CLIP-seq
MIRT2538947	hsa-miR-3151	CLIP-seq
MIRT2538948	hsa-miR-323-5p	CLIP-seq
MIRT1020340	hsa-miR-3622b-5p	CLIP-seq
MIRT1020341	hsa-miR-3647-3p	CLIP-seq
MIRT1020343	hsa-miR-3688-5p	CLIP-seq
MIRT1020344	hsa-miR-3692	CLIP-seq
MIRT2538949	hsa-miR-377	CLIP-seq
MIRT2538950	hsa-miR-3934	CLIP-seq
MIRT1020345	hsa-miR-4270	CLIP-seq
MIRT1020346	hsa-miR-4276	CLIP-seq
MIRT2538951	hsa-miR-4281	CLIP-seq
MIRT2538952	hsa-miR-4283	CLIP-seq
MIRT1020347	hsa-miR-4316	CLIP-seq
MIRT2538953	hsa-miR-4319	CLIP-seq
MIRT2538954	hsa-miR-4418	CLIP-seq
MIRT1020348	hsa-miR-4441	CLIP-seq
MIRT1020349	hsa-miR-4458	CLIP-seq
MIRT2538955	hsa-miR-4489	CLIP-seq
MIRT1020351	hsa-miR-4500	CLIP-seq
MIRT1549251	hsa-miR-4650-3p	CLIP-seq
MIRT1020352	hsa-miR-4677-3p	CLIP-seq
MIRT1020353	hsa-miR-4679	CLIP-seq
MIRT2538956	hsa-miR-4732-3p	CLIP-seq
MIRT1020354	hsa-miR-4739	CLIP-seq
MIRT1020355	hsa-miR-4756-5p	CLIP-seq
MIRT2538957	hsa-miR-493	CLIP-seq
MIRT2538958	hsa-miR-509-3-5p	CLIP-seq
MIRT2538959	hsa-miR-509-5p	CLIP-seq
MIRT1020362	hsa-miR-567	CLIP-seq
MIRT1020364	hsa-miR-587	CLIP-seq
MIRT2538960	hsa-miR-670	CLIP-seq
MIRT2538961	hsa-miR-764	CLIP-seq
MIRT2538962	hsa-miR-96	CLIP-seq
MIRT1020366	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0004565	Function	Beta-galactosidase activity	IBA
GO:0004565	Function	Beta-galactosidase activity	IDA	11927518, 24737316
GO:0004565	Function	Beta-galactosidase activity	IEA
GO:0004565	Function	Beta-galactosidase activity	IMP	8112731, 25936995
GO:0004565	Function	Beta-galactosidase activity	TAS	3143362
GO:0005515	Function	Protein binding	IPI	15498789, 22128166, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IDA	11927518
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	IMP	8112731
GO:0005773	Component	Vacuole	IBA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005975	Process	Carbohydrate metabolic process	IDA	11927518
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006516	Process	Glycoprotein catabolic process	IEA
GO:0006516	Process	Glycoprotein catabolic process	IMP	31720227
GO:0006689	Process	Ganglioside catabolic process	IEA
GO:0006689	Process	Ganglioside catabolic process	IMP	31720227
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0016936	Function	Galactoside binding	IEA
GO:0019388	Process	Galactose catabolic process	IBA
GO:0019388	Process	Galactose catabolic process	IEA
GO:0030200	Process	Heparan sulfate proteoglycan catabolic process	TAS
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0042340	Process	Keratan sulfate proteoglycan catabolic process	IEA
GO:0042340	Process	Keratan sulfate proteoglycan catabolic process	IMP	31720227
GO:0042340	Process	Keratan sulfate proteoglycan catabolic process	TAS
GO:0042803	Function	Protein homodimerization activity	IPI	22128166
GO:0043202	Component	Lysosomal lumen	TAS
GO:0046479	Process	Glycosphingolipid catabolic process	TAS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051413	Process	Response to cortisone	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:1904016	Process	Response to Thyroglobulin triiodothyronine	IEA
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 611458
• HGNC: 4298
• e!Ensembl: ENSG00000170266

Protein

• UniProt ID: P16278
• Protein name: Beta-galactosidase (EC 3.2.1.23) (Acid beta-galactosidase) (Lactase) (Elastin receptor 1)
• Protein function: [Isoform 1]: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans. {ECO:0000269|PubMed:15714521, ECO:0000269|PubMed:19472408, ECO:0000269|PubMed:2511208, ECO:0000269|PubMed:25936995, ECO:00002
• PDB: 3THC, 3THD, 3WEZ, 3WF0, 3WF1, 3WF2, 3WF3, 3WF4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01301	Glyco_hydro_35	40 → 357	Glycosyl hydrolases family 35	Domain
  PF13364	BetaGal_dom4_5	528 → 622	Beta-galactosidase jelly roll domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in placenta (at protein level) (PubMed:8383699). Detected in fibroblasts and testis (PubMed:2511208). {ECO:0000269|PubMed:2511208, ECO:0000269|PubMed:8383699}.
• Sequence:

  MPGFLVRILPLLLVLLLLGPTRGLRNATQRMFEIDYSRDSFLKDGQPFRYISGSIHYSRV
  PRFYWKDRLLKMKMAGLNAIQTYVPWNFHEPWPGQYQFSEDHDVEYFLRLAHELGLLVIL
  RPGPYICAEWEMGGLPAWLLEKESILLRSSDPDYLAAVDKWLGVLLPKMKPLLYQNGGPV
  ITVQVENEYGSYFACDFDYLRFLQKRFRHHLGDDVVLFTTDGAHKTFLKCGALQGLYTTV
  DFGTGSNITDAFLSQRKCEPKGPLINSEFYTGWLDHWGQPHSTIKTEAVASSLYDILARG
  ASVNLYMFIGGTNFAYWNGANSPYAAQPTSYDYDAPLSEAGDLTEKYFALRNIIQKFEKV
  PEGPIPPSTPKFAYGKVTLEKLKTVGAALDILCPSGPIKSLYPLTFIQVKQHYGFVLYRT
  TLPQDCSNPAPLSSPLNGVHDRAYVAVDGIPQGVLERNNVITLNITGKAGATLDLLVENM
  GRVNYGAYINDFKGLVSNLTLSSNILTDWTIFPLDTEDAVRSHLGGWGHRDSGHHDEAWA
  HNSSNYTLPAFYMGNFSIPSGIPDLPQDTFIQFPGWTKGQVWINGFNLGRYWPARGPQLT
  LFVPQHILMTSAPNTITVLELEWAPCSSDDPELCAVTFVDRPVIGSSVTYDHPSKPVEKR
  LMPPPPQKNKDSWLDHV

• Sequence length: 677

Pathways

KEGG:

Galactose metabolism
Other glycan degradation
Glycosaminoglycan degradation
Sphingolipid metabolism
Glycosphingolipid biosynthesis - ganglio series
Metabolic pathways
Lysosome

Reactome:

Glycosphingolipid metabolism
Keratan sulfate degradation
HS-GAG degradation
MPS IV - Morquio syndrome B
Sialic acid metabolism
Defective NEU1 causes sialidosis
Neutrophil degranulation

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
Colon adenocarcinoma	Pathogenic	rs778423653	RCV005899616	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GLB1-related disorder	Likely pathogenic; Pathogenic	rs759633494, rs751033858, rs72555360, rs72555392, rs2125533195, rs794727165, rs780109160, rs794729217, rs376663785, rs757256051, rs757926581, rs745386663, rs750531880, rs564428355, rs1553606984, rs1553606128, rs192732174, rs749980306, rs778700089, rs767704163	RCV005232301 RCV005635393 RCV004737133 RCV004545719 RCV004698866 RCV003221293 RCV005869853 RCV004528961 RCV004545765 RCV003314170 RCV005869335 RCV004737460 RCV004532999 RCV004737910 RCV004723054 RCV005632612 RCV004533467 RCV005870749 RCV005632602 RCV005871112	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GM1 gangliosidosis	Pathogenic; Likely pathogenic	rs2125467060, rs748345527, rs759633494, rs779023917, rs72555370, rs1295295164, rs769781778, rs2125469895, rs200181401, rs781658798, rs1698734900, rs2125543662, rs752177002, rs375582374, rs370107958, rs1699765928, rs2125533127, rs1303774639, rs749020375, rs2125478934, rs72555371, rs2125463278, rs2125469935, rs2125463306, rs1022476871, rs2125548861, rs776213501, rs756575833, rs2125442981, rs2125514041, rs2125543580, rs2125463197, rs2125547910, rs765230559, rs2125469871, rs143423935, rs2125463301, rs751033858, rs376034559, rs2125463133, rs2125548844, rs72555359, rs72555360, rs72555390, rs28934274, rs28934886, rs72555391, rs72555363, rs72555393, rs587776525, rs72555365, rs72555366, rs72555367, rs72555372, rs72555368, rs72555392, rs587776526, rs2125533195, rs2125548643, rs727503952, rs781080459, rs72555373, rs768691348, rs1559385963, rs794727165, rs1464136979, rs572237881, rs377174858, rs769503425, rs189115557, rs2471424690, rs794729217, rs757256051, rs2471374147, rs2471248129, rs2471539319, rs2471397756, rs2471354479, rs2471437813, rs2471248188, rs2471375093, rs2471255691, rs2471271015, rs2471375206, rs2471255806, rs2471249103, rs2471261296, rs2471374173, rs2471380476, rs748830051, rs371582179, rs2471397419, rs376710410, rs2471398259, rs376663785, rs757926581, rs2471449387, rs778340733, rs2471247835, rs773868843, rs2471247981, rs2471397544, rs2471424354, rs745864233, rs2471354173, rs2471398274, rs2471449415, rs780634117, rs2471424350, rs1553610553, rs2471270755, rs2471449428, rs2471261045, rs2471248154, rs2471270873, rs2471374263, rs2471255841, rs764192020, rs2471449819, rs1553612150, rs2471199391, rs2471270710, rs2471248619, rs2471248603, rs2471424489, rs1553611055, rs977975596, rs780523881, rs745386663, rs1057517738, rs750531880, rs778423653, rs776327443, rs756878418, rs1553612143, rs564428355, rs1803200, rs780724173, rs1553607014, rs1041204916, rs1553611778, rs773562141, rs1553612220, rs754131566, rs202007119, rs1553611025, rs968221254, rs1553606984, rs749980306, rs1553610382, rs1282958432, rs778375259, rs1553606128, rs192732174, rs778700089, rs1382394474, rs1553612145, rs753965226, rs1559401428, rs1559385898, rs1575410340, rs1559401406, rs1575475703, rs1575459735, rs397515616, rs397515617, rs746766232, rs767704163, rs1215113920, rs1697335361, rs368568171, rs1559408259, rs1696345066, rs1207569870, rs1699791081, rs1452318343, rs1699008262, rs1697255114, rs1699088102, rs1697138071, rs746883447, rs747709527, rs1697338499, rs1378338444, rs1699291583, rs398123348, rs202237232, rs398123349, rs398123350, rs398123351, rs398123353, rs398123354, rs398123356	RCV001366260 RCV001373808 RCV001379192 RCV001377615 RCV001379676 RCV001389009 RCV001390073 RCV001381783 RCV001382667 RCV001383879 RCV001388692 RCV001381302 RCV001882746 RCV004798916 RCV004798927 RCV001869565 RCV002004514 RCV002036528 RCV001985845 RCV001939477 RCV001967085 RCV001953736 RCV001972704 RCV001890215 RCV001905463 RCV001910472 RCV001927524 RCV001863251 RCV001977677 RCV001977720 RCV002024552 RCV001922145 RCV001999719 RCV001873061 RCV001935176 RCV002029304 RCV001952809 RCV002005188 RCV001973484 RCV001986227 RCV002021340 RCV001866791 RCV001058421 RCV000269582 RCV001851520 RCV001217770 RCV001378633 RCV000586055 RCV003764504 RCV001068811 RCV000796145 RCV001376852 RCV000586182 RCV001382999 RCV001223149 RCV002281685 RCV001235447 RCV000778693 RCV001049270 RCV003764505 RCV003094010 RCV002272949 RCV001035980 RCV003061397 RCV003079045 RCV003091081 RCV003073540 RCV000703485 RCV002606758 RCV001201192 RCV002651651 RCV002651652 RCV002664299 RCV000309607 RCV002597004 RCV000798976 RCV002650519 RCV002681511 RCV002710956 RCV002797298 RCV002846713 RCV002833297 RCV002861796 RCV002876213 RCV002875777 RCV002913404 RCV002937708 RCV002937759 RCV002915035 RCV003005635 RCV003003074 RCV003033772 RCV003042643 RCV003030175 RCV003036562 RCV001387511 RCV001061617 RCV003225641 RCV000809706 RCV003779865 RCV000689244 RCV000292413 RCV003782234 RCV003795989 RCV003781003 RCV003781004 RCV003781368 RCV003781369 RCV003781370 RCV003792753 RCV003793773 RCV003792482 RCV003807779 RCV003807997 RCV003807999 RCV003808002 RCV003808084 RCV003808090 RCV003806469 RCV003804437 RCV003791489 RCV003799419 RCV003799685 RCV003802838 RCV003805324 RCV003803127 RCV003795168 RCV003809100 RCV003807092 RCV003802311 RCV003809898 RCV003813320 RCV003813402 RCV003807600 RCV003812786 RCV003805041 RCV004586250 RCV000805468 RCV003766144 RCV001244569 RCV000685614 RCV000811767 RCV001050379 RCV001057694 RCV002295308 RCV001855325 RCV000633471 RCV002531313 RCV001049111 RCV001071947 RCV001203710 RCV002530631 RCV002532083 RCV002531304 RCV003767991 RCV003767982 RCV002530688 RCV001380450 RCV005223104 RCV001048896 RCV002531251 RCV001389790 RCV001379670 RCV001855576 RCV001855609 RCV001175077 RCV001043055 RCV003767987 RCV001855604 RCV002531266 RCV001175301 RCV000821368 RCV001228044 RCV001861803 RCV002530651 RCV002531261 RCV000689254 RCV001868921 RCV000799151 RCV000820882 RCV000813662 RCV000791815 RCV003764741 RCV000541694 RCV001378118 RCV001224593 RCV001036666 RCV001045376 RCV001059700 RCV001038513 RCV001174717 RCV001384625 RCV001175297 RCV001192991 RCV003770235 RCV001220312 RCV001217817 RCV001217818 RCV001232770 RCV001225769 RCV001250224 RCV001250225 RCV002537662 RCV003770401 RCV001386115 RCV001854385 RCV003764756 RCV002513824 RCV000794211 RCV001211514 RCV000818014 RCV003764757 RCV001854386	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GM1 gangliosidosis type 2	Likely pathogenic; Pathogenic	rs748345527, rs759633494, rs2125469895, rs781658798, rs370107958, rs2125533127, rs2125478934, rs751033858, rs72555359, rs72555360, rs72555390, rs72555361, rs28934886, rs72555391, rs72555393, rs587776525, rs72555365, rs72555366, rs72555367, rs72555372, rs72555368, rs72555370, rs72555392, rs587776526, rs72555371, rs1304277420, rs2471375071, rs1407133452, rs2471424609, rs2471424667, rs2471449105, rs2471255852, rs2471354329, rs1559385963, rs572237881, rs189115557, rs794729217, rs757256051, rs2471375093, rs748830051, rs371582179, rs376710410, rs376663785, rs757926581, rs2471397544, rs780523881, rs778423653, rs756878418, rs745864233, rs564428355, rs1553604677, rs1803200, rs780724173, rs1553607014, rs1041204916, rs1553611055, rs1553611778, rs1553612150, rs773562141, rs1553612213, rs1553612220, rs794727165, rs754131566, rs202007119, rs1553611016, rs1553611025, rs1553606130, rs1022476871, rs968221254, rs1553606984, rs749980306, rs1553610382, rs1282958432, rs1553610553, rs1553611040, rs778375259, rs1553606091, rs1553606128, rs192732174, rs1280400930, rs1553611044, rs1553611789, rs778700089, rs1382394474, rs1553612145, rs1553612189, rs753965226, rs1559401428, rs397515616, rs397515617, rs746766232, rs1697335361, rs368568171, rs1559408259, rs1452318343, rs746883447, rs1697334156, rs1699002261, rs1378338444, rs1699086565, rs398123348, rs202237232, rs398123349, rs398123350, rs398123351, rs398123353	RCV005023114 RCV004796618 RCV005023134 RCV005038188 RCV005038287 RCV002507682 RCV002307812 RCV005025561 RCV000667074 RCV000000973 RCV000671053 RCV000673295 RCV001810396 RCV002476905 RCV000669063 RCV003338377 RCV000665872 RCV000984269 RCV000850556 RCV000665526 RCV000673423 RCV000000993 RCV000059350 RCV002496221 RCV000673090 RCV005025734 RCV002309663 RCV002307889 RCV002308377 RCV002309297 RCV002309396 RCV002307306 RCV002310423 RCV005028217 RCV000673880 RCV000995553 RCV000987139 RCV005034358 RCV005028010 RCV000670448 RCV000239412 RCV000665871 RCV000666452 RCV005027449 RCV005030265 RCV005023593 RCV000477865 RCV000669165 RCV000672724 RCV000763097 RCV000666461 RCV000665992 RCV000672277 RCV000666573 RCV000673337 RCV000668507 RCV000664551 RCV000669176 RCV000675020 RCV000672112 RCV000673695 RCV000671078 RCV000670208 RCV000666546 RCV000665150 RCV000664835 RCV000674052 RCV000667817 RCV000670410 RCV000668225 RCV000673840 RCV000668974 RCV000672279 RCV000674446 RCV000987140 RCV000672678 RCV000670551 RCV000669890 RCV000673883 RCV000667717 RCV000670869 RCV000666897 RCV000669124 RCV000665726 RCV000673838 RCV000666243 RCV000679994 RCV000671128 RCV000665277 RCV000672923 RCV000670769 RCV005027848 RCV000059351 RCV000059352 RCV000995552 RCV002307662 RCV005029643 RCV005029586 RCV005029738 RCV005036493 RCV001263743 RCV001263744 RCV001263745 RCV001263746 RCV000672348 RCV000668735 RCV000668115 RCV000671504 RCV001810420 RCV000667741 RCV000666298	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GM1 gangliosidosis type 3	Likely pathogenic; Pathogenic	rs748345527, rs2125469895, rs781658798, rs370107958, rs2125533127, rs2125478934, rs751033858, rs72555359, rs72555360, rs72555390, rs72555361, rs28934886, rs72555391, rs72555393, rs587776525, rs72555365, rs72555366, rs72555367, rs72555372, rs72555368, rs72555370, rs72555392, rs587776526, rs72555371, rs1304277420, rs2471375071, rs1407133452, rs2471424609, rs2471424667, rs2471449105, rs2471255852, rs2471354329, rs1559385963, rs572237881, rs189115557, rs794729217, rs757256051, rs2471375093, rs748830051, rs371582179, rs376710410, rs376663785, rs757926581, rs2471397544, rs780523881, rs778423653, rs756878418, rs745864233, rs564428355, rs1553604677, rs1803200, rs780724173, rs1553607014, rs1041204916, rs1553611055, rs1553611778, rs1553612150, rs773562141, rs1553612213, rs1553612220, rs794727165, rs754131566, rs202007119, rs1553611016, rs1553611025, rs1553606130, rs1022476871, rs968221254, rs1553606984, rs749980306, rs1553610382, rs1282958432, rs1553610553, rs1553611040, rs778375259, rs1553606091, rs1553606128, rs192732174, rs1280400930, rs1553611044, rs1553611789, rs778700089, rs1382394474, rs1553612145, rs1553612189, rs753965226, rs1559401428, rs397515616, rs397515617, rs746766232, rs1697335361, rs368568171, rs1559408259, rs1452318343, rs746883447, rs1697334156, rs1699002261, rs1378338444, rs1699086565, rs398123348, rs202237232, rs398123349, rs398123350, rs398123351, rs398123353	RCV005023114 RCV005023134 RCV005038188 RCV005038287 RCV002507682 RCV002307812 RCV005025561 RCV000667074 RCV000410436 RCV000000974 RCV000673295 RCV000000978 RCV002476905 RCV000000984 RCV001376158 RCV000665872 RCV000984270 RCV000850556 RCV000665526 RCV000673423 RCV005031376 RCV000850557 RCV002496221 RCV000673090 RCV005025734 RCV002309663 RCV002307889 RCV002308377 RCV002309297 RCV002309396 RCV002307306 RCV002310423 RCV005028217 RCV000673880 RCV002500509 RCV003137707 RCV005034358 RCV005028010 RCV000670448 RCV000665995 RCV000665871 RCV000666452 RCV005027449 RCV005030265 RCV005023593 RCV000477865 RCV000669165 RCV000672724 RCV000763097 RCV000666461 RCV000665992 RCV000672277 RCV000666573 RCV000673337 RCV000668507 RCV000664551 RCV000669176 RCV000675020 RCV000672112 RCV000673695 RCV000671078 RCV000670208 RCV000666546 RCV000665150 RCV000664835 RCV000674052 RCV000667817 RCV000670410 RCV000668225 RCV000673840 RCV000668974 RCV000672279 RCV000674446 RCV000673140 RCV000672678 RCV000670551 RCV000669890 RCV000673883 RCV000667717 RCV000670869 RCV000666897 RCV000669124 RCV000665726 RCV000673838 RCV000666243 RCV000668601 RCV000671128 RCV000665277 RCV000672923 RCV000670769 RCV005027848 RCV005031548 RCV005031549 RCV005036266 RCV002307662 RCV005029643 RCV005029586 RCV005029738 RCV005036493 RCV001263743 RCV001263744 RCV001263745 RCV001263746 RCV000672348 RCV000668735 RCV000668115 RCV000671504 RCV001810420 RCV000667741 RCV000666298	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GM1-gangliosidosis, type I, with cardiac involvement	Pathogenic; Likely pathogenic	rs72555372, rs72555392, rs587776526, rs72555373, rs72555371	RCV000000990 RCV000000994 RCV000000996 RCV000000997 RCV000000998	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile GM1 gangliosidosis	Likely pathogenic; Pathogenic	rs748345527, rs2125469895, rs781658798, rs587779403, rs587779404, rs752177002, rs375582374, rs370107958, rs2125466937, rs1699765928, rs2125548832, rs2125548864, rs2125591475, rs2125533127, rs2125478934, rs756575833, rs751033858, rs72555359, rs72555360, rs72555390, rs28934274, rs72555361, rs28934886, rs72555362, rs72555391, rs587776524, rs72555393, rs587776525, rs72555365, rs72555366, rs72555367, rs72555372, rs72555368, rs72555370, rs72555392, rs587776526, rs72555371, rs1304277420, rs2125533195, rs727503952, rs2471375071, rs1407133452, rs2471424609, rs2471424667, rs2471449105, rs2471255852, rs2471354329, rs1559385963, rs794727165, rs572237881, rs780109160, rs189115557, rs794729217, rs757256051, rs2471375093, rs748830051, rs371582179, rs2471449533, rs376710410, rs2471398259, rs376663785, rs2471279230, rs757926581, rs2471397544, rs780523881, rs745386663, rs778423653, rs776327443, rs756878418, rs1553612143, rs745864233, rs564428355, rs1553604677, rs1803200, rs780724173, rs1553607014, rs1041204916, rs1553611055, rs1553611778, rs1553612150, rs773562141, rs1553612213, rs1553612220, rs754131566, rs202007119, rs1553611016, rs1553611025, rs1553606130, rs1022476871, rs968221254, rs1553606984, rs749980306, rs1553610382, rs1282958432, rs1553610553, rs1553611040, rs778375259, rs1553606091, rs1553606128, rs192732174, rs1280400930, rs1553611044, rs1553611789, rs778700089, rs1382394474, rs1553612145, rs1553612189, rs753965226, rs1559401428, rs1575451526, rs886042079, rs397515616, rs397515617, rs746766232, rs1575471281, rs1575414831, rs1697335361, rs368568171, rs1559408259, rs1699766499, rs1207569870, rs1452318343, rs746883447, rs1697334156, rs1699002261, rs1378338444, rs1699086565, rs398123348, rs202237232, rs398123349, rs398123350, rs398123351, rs398123353	RCV005023114 RCV005023134 RCV005038188 RCV000087091 RCV000087093 RCV001650518 RCV001730468 RCV005038287 RCV001794518 RCV001806351 RCV001806352 RCV001806353 RCV001806443 RCV002246614 RCV002307812 RCV002290779 RCV005025561 RCV000000972 RCV000411359 RCV000671053 RCV000000976 RCV000000977 RCV001810396 RCV004566665 RCV000000981 RCV000000983 RCV000669063 RCV000000985 RCV000665872 RCV000000988 RCV000850556 RCV000665526 RCV000673423 RCV000760159 RCV000000995 RCV002470702 RCV000673090 RCV005025734 RCV002249057 RCV002291070 RCV002291499 RCV002309663 RCV002307889 RCV002308377 RCV002309297 RCV002309396 RCV002307306 RCV002310423 RCV002510243 RCV005028217 RCV000175003 RCV000673880 RCV002571631 RCV002500509 RCV000184037 RCV005034358 RCV005028010 RCV000670448 RCV000665995 RCV003225699 RCV000665871 RCV003238167 RCV000666452 RCV003337744 RCV001584055 RCV005030265 RCV005023593 RCV005410898 RCV000477865 RCV002286741 RCV000669165 RCV000672724 RCV000625810 RCV000763097 RCV000666461 RCV000665992 RCV000672277 RCV000666573 RCV000673337 RCV000668507 RCV000664551 RCV000669176 RCV000675020 RCV000672112 RCV000673695 RCV000671078 RCV000670208 RCV000666546 RCV000665150 RCV000664835 RCV000674052 RCV000667817 RCV000670410 RCV000668225 RCV000673840 RCV000668974 RCV000672279 RCV000674446 RCV000673140 RCV000672678 RCV000670551 RCV000669890 RCV000673883 RCV000667717 RCV000670869 RCV000666897 RCV000669124 RCV000665726 RCV000673838 RCV000666243 RCV000668601 RCV000671128 RCV000665277 RCV000672923 RCV000670769 RCV001584562 RCV000985131 RCV000984877 RCV005031548 RCV005031549 RCV001331204 RCV001009625 RCV001027535 RCV002307662 RCV005029643 RCV005029586 RCV001261541 RCV001175103 RCV005029738 RCV005036493 RCV001263743 RCV001263744 RCV001263745 RCV001263746 RCV000672348 RCV000668735 RCV000668115 RCV005859496 RCV001804833 RCV000667741 RCV000666298	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung cancer	Likely pathogenic; Pathogenic	rs192732174	RCV005901453	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lysosomal storage disease	Pathogenic	rs745386663	RCV006252565	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucopolysaccharidosis, MPS-IV-B	Pathogenic; Likely pathogenic	rs2125467060, rs748345527, rs759633494, rs779023917, rs72555370, rs1295295164, rs769781778, rs2125469895, rs200181401, rs781658798, rs1698734900, rs2125543662, rs2125591484, rs752177002, rs370107958, rs1699765928, rs2125533127, rs1303774639, rs749020375, rs2125478934, rs72555371, rs2125463278, rs2125469935, rs2125463306, rs1022476871, rs2125548861, rs776213501, rs756575833, rs2125442981, rs2125514041, rs2125543580, rs2125463197, rs2125547910, rs765230559, rs2125469871, rs143423935, rs2125463301, rs751033858, rs375582374, rs376034559, rs2125463133, rs2125548844, rs72555359, rs72555360, rs72555390, rs28934274, rs72555361, rs28934886, rs72555362, rs72555391, rs72555363, rs72555393, rs587776525, rs72555364, rs72555365, rs72555366, rs72555367, rs72555372, rs72555368, rs72555392, rs587776526, rs1304277420, rs2125533195, rs727503952, rs781080459, rs72555373, rs768691348, rs1559385963, rs794727165, rs1464136979, rs572237881, rs377174858, rs769503425, rs189115557, rs2471424690, rs794729217, rs757256051, rs2471374147, rs2471248129, rs2471539319, rs2471397756, rs2471354479, rs2471437813, rs2471248188, rs2471375093, rs2471255691, rs2471271015, rs2471375206, rs2471255806, rs2471249103, rs2471261296, rs2471374173, rs2471380476, rs748830051, rs371582179, rs376710410, rs2471398259, rs376663785, rs1575472038, rs757926581, rs2471449387, rs778340733, rs2471247835, rs773868843, rs2471247981, rs2471397544, rs2471424354, rs745864233, rs2471354173, rs2471398274, rs2471449415, rs780634117, rs2471424350, rs1553610553, rs2471270755, rs2471449428, rs2471261045, rs2471248154, rs2471270873, rs2471374263, rs2471255841, rs764192020, rs2471449819, rs1553612150, rs2471199391, rs2471270710, rs2471248619, rs2471248603, rs2471424489, rs1553611055, rs977975596, rs780523881, rs745386663, rs1057517738, rs750531880, rs778423653, rs776327443, rs756878418, rs1553612143, rs564428355, rs1553604677, rs1803200, rs780724173, rs1553607014, rs1041204916, rs1553611778, rs773562141, rs1553612213, rs1553612220, rs754131566, rs202007119, rs1553611016, rs1553611025, rs1553606130, rs968221254, rs1553606984, rs749980306, rs1553610382, rs1282958432, rs1553611040, rs778375259, rs1553606091, rs1553606128, rs192732174, rs1280400930, rs1553611044, rs1553611789, rs778700089, rs1382394474, rs1553612145, rs1553612189, rs753965226, rs1559401428, rs1559385898, rs1575410340, rs1559401406, rs1575475703, rs1575459735, rs397515616, rs397515617, rs746766232, rs767704163, rs1215113920, rs1697335361, rs368568171, rs1559408259, rs1207569870, rs1699791081, rs1452318343, rs1699008262, rs1697255114, rs1699088102, rs1697138071, rs746883447, rs747709527, rs1378338444, rs1699291583, rs398123348, rs202237232, rs398123349, rs398123350, rs398123351, rs398123353, rs398123354, rs398123356	RCV001366260 RCV001373808 RCV001379192 RCV001377615 RCV001379676 RCV001389009 RCV001390073 RCV001381783 RCV001382667 RCV001383879 RCV001388692 RCV001381302 RCV001391310 RCV001882746 RCV002290745 RCV001869565 RCV002004514 RCV002036528 RCV001985845 RCV001939477 RCV001967085 RCV001953736 RCV001972704 RCV001890215 RCV001905463 RCV001910472 RCV001927524 RCV001863251 RCV001977677 RCV001977720 RCV002024552 RCV001922145 RCV001999719 RCV001873061 RCV001935176 RCV002029304 RCV001952809 RCV002005188 RCV001973484 RCV001986227 RCV002021340 RCV001866791 RCV000667074 RCV001208622 RCV000671053 RCV001217770 RCV000673295 RCV001378633 RCV000000979 RCV000119099 RCV000000982 RCV000669063 RCV000781443 RCV000000986 RCV000119100 RCV000633470 RCV000000989 RCV000665526 RCV000000991 RCV001235447 RCV000175600 RCV000790562 RCV000673090 RCV002240085 RCV003094010 RCV001035980 RCV003061397 RCV003079045 RCV003091081 RCV003073540 RCV000703485 RCV002606758 RCV000673880 RCV002651651 RCV002651652 RCV002664299 RCV000665698 RCV002597004 RCV000798976 RCV002650519 RCV002681511 RCV002710956 RCV002797298 RCV002846713 RCV002833297 RCV002861796 RCV002876213 RCV002875777 RCV002913404 RCV002937708 RCV002937759 RCV002915035 RCV003005635 RCV003003074 RCV003033772 RCV003042643 RCV003030175 RCV003036562 RCV000670448 RCV000665995 RCV000984003 RCV003779865 RCV000689244 RCV003388961 RCV000675170 RCV003782234 RCV003795989 RCV003781003 RCV003781004 RCV003781368 RCV003781369 RCV003781370 RCV003792753 RCV003793773 RCV003792482 RCV003807779 RCV003807997 RCV003807999 RCV003808002 RCV003808084 RCV003808090 RCV003806469 RCV003804437 RCV003791489 RCV003799419 RCV003799685 RCV003802838 RCV003805324 RCV003803127 RCV003795168 RCV003809100 RCV003807092 RCV003802311 RCV003809898 RCV003813320 RCV003813402 RCV003807600 RCV003812786 RCV003805041 RCV005023593 RCV000662341 RCV003766144 RCV000670128 RCV000477865 RCV000666099 RCV000669165 RCV000672724 RCV002295308 RCV000626074 RCV000633471 RCV000665992 RCV000672277 RCV001049111 RCV000673337 RCV000668507 RCV000664551 RCV000669176 RCV000675020 RCV000672112 RCV000673695 RCV000671078 RCV000670208 RCV000666546 RCV000665150 RCV000664835 RCV000674052 RCV000667817 RCV000670410 RCV000668225 RCV000673840 RCV000668974 RCV000672279 RCV000674446 RCV000673140 RCV000672678 RCV000670551 RCV000669890 RCV000673883 RCV000667717 RCV000670869 RCV000666897 RCV000669124 RCV000665726 RCV000673838 RCV000666243 RCV000668601 RCV001861803 RCV000665277 RCV000672923 RCV000670769 RCV000689254 RCV001868921 RCV000799151 RCV000820882 RCV000813662 RCV000791815 RCV003764741 RCV000541694 RCV001378118 RCV001224593 RCV001036666 RCV001045376 RCV001059700 RCV001038513 RCV001384625 RCV005236659 RCV001859167 RCV003770235 RCV001220312 RCV001217817 RCV001217818 RCV001232770 RCV001225769 RCV001349145 RCV002537662 RCV001269210 RCV000672348 RCV000668735 RCV000668115 RCV002513824 RCV000794211 RCV000667741 RCV000666298 RCV003764757 RCV001854386	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic	rs749020375, rs746883447	RCV005925461 RCV005909071	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive familial intrahepatic cholestasis	Likely pathogenic; Pathogenic	rs398123351	RCV004542752	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Pathogenic	rs72555372	RCV001642195	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondyloepiphyseal dysplasia	Pathogenic	rs72555367	RCV001843450	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs749020375, rs1057517738	RCV005925462 RCV005900660	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uveal melanoma	Pathogenic	rs587776526	RCV005887149	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES, DEVELOPMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF CARTILAGE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTACT DERMATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL OPACITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, ATOPIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, CONTACT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ependymoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GM1 GANGLIOSIDOSIS TYPE 1	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GM1-GANGLIOSIDOSIS, TYPE I	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GM1-GANGLIOSIDOSIS, TYPE II	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GM1-GANGLIOSIDOSIS, TYPE III	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE GM1 GANGLIOSIDOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Morquio syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS IV	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS TYPE 4B	—	ClinGen, Disgenet, Orphanet ClinGen, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS TYPE IVB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS, TYPE IVB	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOCHONDRODYSPLASIAS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE INTRAHEPATIC CHOLESTASIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	11023995, 8068942		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	31327484		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	12231543		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	12112318, 17620292, 31137035		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	31133044		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	9232190		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	14759639, 3095499		★☆☆☆☆ Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	31137035		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	39596362	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	11762950, 15871674, 9632074		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	30929738, 31619474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	21636552	Stimulate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	28716012, 36233161	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	15711569	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	9081710		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	BEFREE	26694869		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal cell nevus syndrome	Pubtator	26694869	Stimulate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	29255925		★☆☆☆☆ Found in Text Mining only
beta-Galactosidase Deficiency	Beta-Galactosidase Deficiency	BEFREE	11212324, 15714521, 16941474, 17664528, 21497194, 23046582, 23831247, 2837434, 29439846, 3129222, 6800355, 6812049, 9105659, 9337086		★☆☆☆☆ Found in Text Mining only
beta-Galactosidase Deficiency	Beta-Galactosidase Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	11228536, 14693272		★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	CTD_human_DG	7586649		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain Neoplasms	BEFREE	25775241		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11912146, 12679802, 12725531, 1377884, 31761411, 8675647		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15015588, 22684298, 37172139	Associate	★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	BEFREE	1691240		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	9081710		★☆☆☆☆ Found in Text Mining only
Burnett Schwartz Berberian syndrome	Burnett schwartz berberian syndrome	Pubtator	27007831	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12566311, 15166426, 8840992		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27489354, 31517418, 36936948	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	14693272		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	14502149, 15703489, 19575045, 20624405, 9410899		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	11823045		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	10737981, 17221873, 20920281		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	26619319	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	25495501		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	16865269		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical myelopathy	Cervical myelopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	16865269		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	30929738, 31036433		★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	25046437	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	10339670		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	24667162		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	8977261		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28339038		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	12087054		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	9063740		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	15172995, 9934845		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	23046582	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10783318, 11592840, 11912146, 12725531, 12842425, 9288121		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	21357624	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15831909, 23354547		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	27054782		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	38608841	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	15326480, 9171933		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	10737981		★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	BEFREE	817853		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	10757351		★☆☆☆☆ Found in Text Mining only
Contact Dermatitis	Dermatitis	CTD_human_DG	25724174		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Neovascularization	Corneal Neovascularization	BEFREE	20093484		★☆☆☆☆ Found in Text Mining only
Cortical cataract	Cortical cataract	BEFREE	26619319		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	BEFREE	10712202		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	15867586		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	10751364, 11020799, 21407263, 25804706, 9797862, 9989241		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	9989241	Associate	★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive 12	Deafness	Pubtator	37643494	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative brain disorder	Degenerative Brain Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	16571608, 28124466, 7593634		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	29451896	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	27007831	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	23042114, 27761891, 30474111		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis, Atopic	Dermatitis	GWASDB_DG	23042114		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis, Atopic	Dermatitis	CTD_human_DG	23042114		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis, Atopic	Dermatitis	GWASCAT_DG	23042114		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Insipidus	Diabetes Insipidus	BEFREE	3070044		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	12409286		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31004310		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	11876111, 3070044		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyschondroplasias	Dyschondroplasias	CTD_human_DG	817853		★☆☆☆☆ Found in Text Mining only
Dysostoses	Dysostoses	BEFREE	20175788		★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	28716012, 31731261	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	1336295		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	23042114, 27761891		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Eczema, Infantile	Eczema	CTD_human_DG	23042114		★☆☆☆☆ Found in Text Mining only
Elliptocytosis 4	Elliptocytosis	BEFREE	9885227		★☆☆☆☆ Found in Text Mining only
Enzymopathy	Enzymopathy	BEFREE	7076257		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	15275696, 22618082, 404411		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	19621417, 404411	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	36072934	Stimulate	★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	10195877, 12615706, 15703489		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
GALACTOSIALIDOSIS	Galactosialidosis	BEFREE	11212324, 16361247, 1756715, 17712606, 21214877, 25075748, 28555253, 30693535, 3070044, 3136930, 8112731, 8419322, 8862621, 9105659, 9435242, 9603439		★☆☆☆☆ Found in Text Mining only
GALNS Deficiency	GALNS Deficiency	CTD_human_DG	1928092, 7586649		★☆☆☆☆ Found in Text Mining only
GALNS Deficiency	GALNS Deficiency	BEFREE	30094186		★☆☆☆☆ Found in Text Mining only
Gangliosidosis GM1	Gangliosidosis	BEFREE	10338095, 10571006, 10737981, 10751590, 10757351, 10839995, 10841810, 11032334, 11511921, 11578847, 12559848, 12644936, 1353343, 15275696, 15389993, 15714521, 15791924, 15943552, 1606711, 16314480, 16617000, 16941474, 17221873, 17661814, 17664528, 17994547, 18088383, 18353697, 18392450, 18524657, 1907800, 19472408, 19644515, 20409738, 20920281, 21214877, 21497194, 21974950, 22033734, 22128166, 22234367, 22618082, 22784478, 23151865, 24737316, 2511208, 25443580, 25600812, 25964428, 26766614, 27750150, 2837434, 28716012, 29111890, 29439846, 30023598, 30187681, 30267299, 30270003, 30528226, 3081038, 3084469, 3121219, 3124890, 31481471, 31534909, 31819150, 3926630, 6418007, 6420416, 6438403, 6784662, 6784663, 6800355, 804170, 8198123, 8213816, 8652017, 9105659, 9203065, 9337086		★☆☆☆☆ Found in Text Mining only
Gangliosidosis GM1	Gangliosidosis	CLINVAR_DG	10338095, 10737981, 10839995, 11511921, 12644936, 1487238, 15365997, 15714521, 15986423, 16314480, 16617000, 16674934, 16941474, 17221873, 17309651, 17664528, 18524657, 18546276, 18571950, 1907800, 1909089, 1928092, 19472408, 20175788, 21214877, 21497194, 21520340, 22234367, 22675082, 23151865, 23337983, 23430499, 23430803, 24777551, 25443580, 25557439, 25936995, 26646981, 27679996, 29160035, 8198123, 8199591, 8213816, 9203065		★☆☆☆☆ Found in Text Mining only
Gangliosidosis GM1	Gangliosidosis	LHGDN	12644936, 17309651, 17661814, 18524657		★☆☆☆☆ Found in Text Mining only
Gangliosidosis GM1	Gm1 gangliosidosis	Pubtator	16626397, 18392450, 1907800, 1909089, 21497194, 22675082, 23046582, 24737316, 25691190, 26766614, 27679996, 28716012, 29396849, 30187681, 3084469, 31704340, 35807262, 35965426, 36629845, 38641994, 39213692, 39303319, 6420416, 804170, 8198123	Associate	★☆☆☆☆ Found in Text Mining only
Gangliosidosis GM1	Gangliosidosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Gangliosidosis, Generalized GM1, Type 1 (disorder)	Gangliosidosis	CLINVAR_DG	10338095, 10744681, 10839995, 10841810, 11511921, 12644936, 1353343, 15365997, 15714521, 15986423, 16314480, 16617000, 16626397, 16674934, 16941474, 17221873, 17309651, 17664528, 1907800, 1909089, 19472408, 19644515, 20175788, 21214877, 21497194, 21520340, 22128166, 23151865, 23337983, 23831247, 24767253, 24777551, 25326637, 25443580, 25525159, 25557439, 25600812, 25936995, 26108645, 26646981, 27679996, 27750150, 8068159, 8112731, 8198123, 8213816		★☆☆☆☆ Found in Text Mining only
Gangliosidosis, Generalized GM1, Type 1 (disorder)	Gangliosidosis	UNIPROT_DG	10338095, 10737981, 10839995, 1487238, 15365997, 15714521, 15791924, 16538002, 16941474, 17309651, 17664528, 1907800, 1909089, 1928092, 19472408, 24737316, 25936995, 8213816		★☆☆☆☆ Found in Text Mining only
Gangliosidosis, Generalized GM1, Type 1 (disorder)	Gangliosidosis	BEFREE	105984, 10841810, 1487238, 16466959, 21497194, 6777095		★☆☆☆☆ Found in Text Mining only
Gangliosidosis, Generalized GM1, Type 1 (disorder)	Gangliosidosis	GENOMICS_ENGLAND_DG	27604308, 8198123, 8950724		★☆☆☆☆ Found in Text Mining only
Gangliosidosis, Generalized GM1, Type 1 (disorder)	Gangliosidosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Gangliosidosis, Generalized GM1, Type 2	Gangliosidosis	CLINVAR_DG	10338095, 10744681, 10839995, 10841810, 11511921, 1353343, 15365997, 15714521, 16314480, 16617000, 16626397, 16674934, 16941474, 17221873, 17309651, 17664528, 1907800, 1909089, 19472408, 19644515, 20175788, 21214877, 21497194, 21520340, 22128166, 23151865, 23337983, 23831247, 24767253, 24777551, 25326637, 25443580, 25525159, 25557439, 25600812, 25936995, 26108645, 26646981, 27679996, 27750150, 8068159, 8112731, 8198123, 8213816		★☆☆☆☆ Found in Text Mining only
Gangliosidosis, Generalized GM1, Type 2	Gangliosidosis	UNIPROT_DG	10737981, 12644936, 15714521, 16941474, 17309651, 1907800, 1909089, 19472408, 24737316, 25936995, 8213816		★☆☆☆☆ Found in Text Mining only
Gangliosidosis, Generalized GM1, Type 2	Gangliosidosis	GENOMICS_ENGLAND_DG	12644936, 27604308, 8198123, 8950724		★☆☆☆☆ Found in Text Mining only
Gangliosidosis, Generalized GM1, Type 2	Gangliosidosis	BEFREE	1588015, 30187681, 8068159		★☆☆☆☆ Found in Text Mining only
Gangliosidosis, Generalized GM1, Type 2	Gangliosidosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Gangliosidosis, Generalized GM1, Type 3	Gangliosidosis	CLINVAR_DG	10338095, 10744681, 10839995, 10841810, 11511921, 1353343, 15365997, 15714521, 16314480, 16617000, 16626397, 16674934, 16941474, 17221873, 17309651, 17664528, 1907800, 1909089, 19472408, 19644515, 20175788, 21214877, 21497194, 21520340, 22128166, 23151865, 23337983, 23831247, 24767253, 24777551, 25326637, 25443580, 25525159, 25557439, 25600812, 25936995, 26108645, 26646981, 27679996, 27750150, 8068159, 8112731, 8198123, 8213816		★☆☆☆☆ Found in Text Mining only
Gangliosidosis, Generalized GM1, Type 3	Gangliosidosis	UNIPROT_DG	11511921, 15986423, 16941474, 17309651, 17664528, 1907800, 1909089, 19472408, 24737316, 25936995, 8198123		★☆☆☆☆ Found in Text Mining only
Gangliosidosis, Generalized GM1, Type 3	Gangliosidosis	BEFREE	18571950, 6420416		★☆☆☆☆ Found in Text Mining only
Gangliosidosis, Generalized GM1, Type 3	Gangliosidosis	GENOMICS_ENGLAND_DG	27604308, 8198123, 8950724		★☆☆☆☆ Found in Text Mining only
Gangliosidosis, Generalized GM1, Type 3	Gangliosidosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement	Gangliosidosis, With Cardiac Involvement	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	24481601	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	15275696, 22526844		★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	30473883		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	16810631, 17460718, 30840664, 9721849		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	16810631, 17460718, 30840664, 9721849		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	10100717, 11464512, 15368589, 16810631, 22922739, 7558428, 8869148		★☆☆☆☆ Found in Text Mining only
Globoid cell leukodystrophy	Globoid Cell Leukodystrophy	BEFREE	12231442, 15275696, 3615358, 4522795, 7307314		★☆☆☆☆ Found in Text Mining only
GM1 gangliosidosis type 1	GM1 Gangliosidosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GM1 gangliosidosis type 2	Gangliosidosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GM1 gangliosidosis type 3	Gangliosidosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	19722557		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	27489354	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	16857775		★☆☆☆☆ Found in Text Mining only
Hereditary liability to pressure palsies	Hereditary Liability To Pressure Palsies	BEFREE	16436605		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	31383820		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	35397126	Associate	★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	Pubtator	26615135	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	2223883		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	28499911		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	15096598		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	2223883		★☆☆☆☆ Found in Text Mining only
Hyperoxia	Hyperoxia	Pubtator	30508396	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	3106720		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	23804254		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28860144		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	28860144	Stimulate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	11479300, 11795424, 9593768		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	25443110		★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	7640874		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	15867586, 22970173		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	22989008		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	21832251		★☆☆☆☆ Found in Text Mining only
Lactose Intolerance	Lactose Intolerance	BEFREE	10821566, 14753735, 15287817, 15365657, 15667380, 16332343, 16805112, 17651714, 19889824, 19960866, 22395907, 27593109, 29922971, 31226742, 31260766, 31313784, 7820203, 9041235		★☆☆☆☆ Found in Text Mining only
Lactose Intolerance, Adult Type	Lactose Intolerance	BEFREE	15667380, 17651714, 18237552, 19639477, 31137035		★☆☆☆☆ Found in Text Mining only
Large cell carcinoma of lung	Lung Carcinoma	BEFREE	9792049		★☆☆☆☆ Found in Text Mining only
Late-Onset Globoid Cell Leukodystrophy	Leukodystrophy	BEFREE	11814461		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	16020509	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	1712180, 1907340, 31222857, 8707413		★☆☆☆☆ Found in Text Mining only
Leukodystrophy, Metachromatic	Metachromatic Leukodystrophy	BEFREE	15275696, 36575		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	30915826		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10833442, 11571535, 11687894, 12833133, 15006603, 1987278, 27489354, 28110172, 9012474		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	12087054		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	12833133, 1987278, 9012474		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	11426334, 1712180, 8853550		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	2991573	Associate	★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	29317602		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	9721087		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	19722557		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	7519451		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12679802, 12725531, 31761411		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12601393, 14502149, 15703489, 19575045, 20624405, 8853549, 9410899		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	11823045, 28969424, 31269795		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12684669, 21084274, 22965418, 25876105, 8707413		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	GWASDB_DG	24185611		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31639393		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	14693272		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10232598, 12499260, 22028621, 22965418, 23370395, 2419131, 25876105, 25964555, 27489354, 28234906, 29129656, 29550585, 31269795		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	16865269		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10783318, 11592840, 12725531, 9288121		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	9041235		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	17942938, 8675647		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	10803592		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	LHGDN	17522702		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	15009703, 26615135, 32939325	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	16273243, 8752651, 8971169		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melnick-Needles Syndrome	Melnick-Needles Syndrome	CTD_human_DG	817853		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	26943583	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	12659954		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	12659954	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Bone Disorder	Metabolic Bone Disorder	BEFREE	19472408, 20409738, 22033734, 30094186		★☆☆☆☆ Found in Text Mining only
Microcephaly with Mental Retardation and Digital Anomalies	Microcephaly	Pubtator	32209057	Associate	★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	17456996		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	17456996	Associate	★☆☆☆☆ Found in Text Mining only
Mucolipidoses	Mucolipidosis	BEFREE	12244048, 16361247, 25600812, 7076257		★☆☆☆☆ Found in Text Mining only
Mucolipidoses	Mucolipidosis	Pubtator	16538002	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis IV	Mucopolysaccharidosis	Pubtator	16538002, 1928092, 21497194, 24737316, 26766614, 29396849, 30187681, 37762422, 6420416	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis IV	Mucopolysaccharidosis	CTD_human_DG	1928092, 7586649		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis IV	Mucopolysaccharidosis	GENOMICS_ENGLAND_DG	27604308, 8950724		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis IV	Mucopolysaccharidosis	BEFREE	30528226, 416714		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis type 4B	Mucopolysaccharidosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis type IVB	Mucopolysaccharidosis	CLINVAR_DG	10338095, 10737981, 10744681, 10839995, 10841810, 11511921, 1353343, 15365997, 15714521, 15943552, 15986423, 16314480, 16538002, 16617000, 16626397, 16674934, 16941474, 17221873, 17309651, 17664528, 18524657, 18546276, 18571950, 1907800, 1909089, 1928092, 19472408, 19644515, 20175788, 20409738, 20920281, 21214877, 21497194, 21520340, 22128166, 22234367, 23151865, 23337983, 23430499, 23430803, 23831247, 24767253, 24777551, 25326637, 25443580, 25525159, 25557439, 25600812, 25936995, 26108645, 26646981, 27679996, 27750150, 29160035, 29352662, 7586649, 8068159, 8112731, 8198123, 8199591, 8213816, 9203065		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis type IVB	Mucopolysaccharidosis	BEFREE	10571006, 10757351, 10841810, 11511921, 12559848, 16617000, 16941474, 17664528, 18546276, 1928092, 19472408, 19644515, 20409738, 22033734, 23151865, 24737316, 2511208, 27750150, 29396849, 29800929, 30094186, 30187681, 30270003, 3121219, 416714, 6418007, 6420416, 8199591		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis type IVB	Mucopolysaccharidosis	UNIPROT_DG	11511921, 12393180, 16538002, 16941474, 17664528, 1928092, 19472408, 7586649		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis type IVB	Mucopolysaccharidosis	CTD_human_DG	1928092, 7586649		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis type IVB	Mucopolysaccharidosis	GENOMICS_ENGLAND_DG	27604308, 8198123, 8213816, 8950724		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis VI	Mucopolysaccharidosis	Pubtator	30335002	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis, MPS-IV-A	Mucopolysaccharidosis	CTD_human_DG	1928092, 7586649		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis, MPS-IV-A	Mucopolysaccharidosis	BEFREE	30094186, 3129222		★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	CTD_human_DG	817853		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	23555770	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	9171933		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	9143666		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	28004656		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10100717, 10232598, 10415879, 10595917, 10676654, 10830782, 10945167, 11084679, 11306477, 11313788, 11389012, 11433405, 11496299, 11498771, 11571535, 11687894, 11745423, 12231543, 12464651, 12601393, 12746848, 12842425, 12884022, 15948039, 16257450, 1712180, 17275269, 17461494, 18376144, 18381430, 18676766, 19001604, 19575045, 20093484, 20186172, 20357819, 20700459, 20829890, 21852811, 22684298, 24703243, 25236494, 26168818, 27812880, 30242785, 30276401, 31285769, 31639393, 7558428, 7612697, 8439971, 8481920, 8548582, 8664379, 8674034, 8818648, 8853549, 8953312, 9018106, 9614567, 9721087, 9885227		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	9337086		★☆☆☆☆ Found in Text Mining only
Neuraminidase 1 deficiency	Neuraminidase 1 Deficiency	BEFREE	16361247		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	9081706, 9721849		★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	BEFREE	22266337		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	22807628	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	19472408, 24581871, 30528226		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	16595594		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	20015952, 27577176		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	29050219		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	25691190	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	CTD_human_DG	817853		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	BEFREE	14753735		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	11823045		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	19572808		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	2437699, 3011404		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30415794, 31091796		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	30415794		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	8620598		★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	Pubtator	28456362	Associate	★☆☆☆☆ Found in Text Mining only
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	BEFREE	19472408, 30094186, 3925555, 818611		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	21610151		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	9066978	Associate	★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	18536059		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	31152494		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12684669, 21084274, 22965418, 25876105, 8707413		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	10869659	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	25876105	Stimulate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	11001372, 15210850		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21677876, 25876105	Associate	★☆☆☆☆ Found in Text Mining only
Pseudo-Hurler Polydystrophy	Pseudo-Hurler Polydystrophy	BEFREE	7076257		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	30154415	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	19565505, 28775044, 28860144		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	8620598		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	22200425		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	11182149		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	11182149		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	9731547		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	9694970		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28754892, 31269834, 8620598, 9375863		★☆☆☆☆ Found in Text Mining only
Sandhoff Disease	Sandhoff Disease	BEFREE	15275696		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	11509322		★☆☆☆☆ Found in Text Mining only
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	CTD_human_DG	817853		★☆☆☆☆ Found in Text Mining only
Schwartz-Jampel Syndrome, Type 1	Chondrodystrophic myotonia	CTD_human_DG	817853		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	23607751		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sea-Blue Histiocyte Syndrome	Sea-Blue Histiocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sialidase deficiency	Sialidase Deficiency	BEFREE	6772959, 6800355, 6812049, 7076257, 9603439		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	10945228		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	27679996	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia	Spondyloepiphyseal dysplasia	BEFREE	6409799		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondyloepiphyseal Dysplasia	Spondyloepiphyseal dysplasia	CTD_human_DG	817853		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Spondyloenchondrodysplasia	CTD_human_DG	817853		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal dysplasia, congenita	Spondyloepiphyseal dysplasia congenita	BEFREE	6409799		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	29550586		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	9816113		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31639393		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34667277, 35535229	Associate	★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	16705698		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	23607751		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	11948141		★☆☆☆☆ Found in Text Mining only
Tay-Sachs Disease	Tay-Sachs Disease	BEFREE	15275696		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	8957474		★☆☆☆☆ Found in Text Mining only
Total Hypotrichosis, Mari type	Hypotrichosis	BEFREE	15956136		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	11948141		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis 1	Tuberous sclerosis complex	Pubtator	35806041	Associate	★☆☆☆☆ Found in Text Mining only
Type I Mucolipidosis	Mucolipidosis	BEFREE	12244048, 16361247, 25600812, 6800355, 6812049, 7076257		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	15867586		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	9572221		★☆☆☆☆ Found in Text Mining only
Van Buchem disease	Van Buchem Disease	CTD_human_DG	817853		★☆☆☆☆ Found in Text Mining only