GUSB (glucuronidase beta)

Gene

• Entrez ID: 2990
• Gene name: Glucuronidase beta
• Gene symbol: GUSB
• Synonyms (NCBI Gene): BG, MPS7
• Chromosome: 7
• Chromosome location: 7q11.21
• Summary: This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharid

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918172	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918173	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918174	G>A	Pathogenic	Missense variant, synonymous variant, intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs121918175	G>A	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs121918176	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918177	G>A	Pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs121918178	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918179	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121918180	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121918181	G>A	Pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs121918182	C>G,T	Pathogenic	Missense variant, synonymous variant, intron variant, non coding transcript variant, coding sequence variant
rs121918183	C>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918184	C>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918185	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs377519272	G>A	Pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant
rs398123234	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123238	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, intron variant
rs587779400	G>A	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs774393243	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs786200863	GA>-	Pathogenic	Intron variant
rs786205671	C>G	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs786205673	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs786205674	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794726973	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886044680	T>G	Likely-pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs935464108	TC>-,TCTCTC	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1053785648	G>A	Pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1238361161	G>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, non coding transcript variant
rs1264172545	C>A,T	Likely-pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant
rs1382654122	T>G	Pathogenic	Initiator codon variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs1434169374	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1451709678	G>A	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030165	hsa-miR-26b-5p	Microarray	19088304
MIRT036746	hsa-miR-760	CLASH	23622248
MIRT496919	hsa-miR-449b-3p	PAR-CLIP	22291592
MIRT496918	hsa-miR-5189-3p	PAR-CLIP	22291592
MIRT496919	hsa-miR-449b-3p	PAR-CLIP	22291592
MIRT496918	hsa-miR-5189-3p	PAR-CLIP	22291592
MIRT1038538	hsa-miR-3591-5p	CLIP-seq
MIRT1038539	hsa-miR-3692	CLIP-seq
MIRT1038540	hsa-miR-4255	CLIP-seq
MIRT1038541	hsa-miR-587	CLIP-seq
MIRT1038542	hsa-miR-670	CLIP-seq
MIRT1038541	hsa-miR-587	CLIP-seq
MIRT2240630	hsa-miR-132	CLIP-seq
MIRT2240631	hsa-miR-212	CLIP-seq
MIRT2240632	hsa-miR-346	CLIP-seq
MIRT2240633	hsa-miR-3663-5p	CLIP-seq
MIRT2240634	hsa-miR-4527	CLIP-seq
MIRT2450894	hsa-miR-1972	CLIP-seq
MIRT2450895	hsa-miR-3612	CLIP-seq
MIRT2450896	hsa-miR-4273	CLIP-seq
MIRT2450897	hsa-miR-4459	CLIP-seq
MIRT2450898	hsa-miR-4677-5p	CLIP-seq
MIRT2450899	hsa-miR-4695-5p	CLIP-seq
MIRT2450900	hsa-miR-650	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
TFAP2A	Unknown	15526106

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0004566	Function	Beta-glucuronidase activity	IBA
GO:0004566	Function	Beta-glucuronidase activity	IEA
GO:0004566	Function	Beta-glucuronidase activity	TAS	3468507
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005102	Function	Signaling receptor binding	IPI	20028034
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	25645918
GO:0005615	Component	Extracellular space	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0005975	Process	Carbohydrate metabolic process	TAS	3468507
GO:0006027	Process	Glycosaminoglycan catabolic process	TAS	1465145
GO:0016020	Component	Membrane	HDA	19946888
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0019904	Function	Protein domain specific binding	IPI	20028034
GO:0030200	Process	Heparan sulfate proteoglycan catabolic process	IEA
GO:0030207	Process	Chondroitin sulfate proteoglycan catabolic process	IEA
GO:0030214	Process	Hyaluronan catabolic process	IEA
GO:0030246	Function	Carbohydrate binding	IBA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0043202	Component	Lysosomal lumen	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 611499
• HGNC: 4696
• e!Ensembl: ENSG00000169919

Protein

• UniProt ID: P08236
• Protein name: Beta-glucuronidase (EC 3.2.1.31) (Beta-G1)
• Protein function: Plays an important role in the degradation of dermatan and keratan sulfates.
• PDB: 1BHG, 3HN3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02837	Glyco_hydro_2_N	38 → 224	Glycosyl hydrolases family 2, sugar binding domain	Domain
  PF00703	Glyco_hydro_2	226 → 327	Glycosyl hydrolases family 2	Domain
  PF02836	Glyco_hydro_2_C	329 → 631	Glycosyl hydrolases family 2, TIM barrel domain	Domain

• Sequence:

  MARGSAVAWAALGPLLWGCALGLQGGMLYPQESPSRECKELDGLWSFRADFSDNRRRGFE
  EQWYRRPLWESGPTVDMPVPSSFNDISQDWRLRHFVGWVWYEREVILPERWTQDLRTRVV
  LRIGSAHSYAIVWVNGVDTLEHEGGYLPFEADISNLVQVGPLPSRLRITIAINNTLTPTT
  LPPGTIQYLTDTSKYPKGYFVQNTYFDFFNYAGLQRSVLLYTTPTTYIDDITVTTSVEQD
  SGLVNYQISVKGSNLFKLEVRLLDAENKVVANGTGTQGQLKVPGVSLWWPYLMHERPAYL
  YSLEVQLTAQTSLGPVSDFYTLPVGIRTVAVTKSQFLINGKPFYFHGVNKHEDADIRGKG
  FDWPLLVKDFNLLRWLGANAFRTSHYPYAEEVMQMCDRYGIVVIDECPGVGLALPQFFNN
  VSLHHHMQVMEEVVRRDKNHPAVVMWSVANEPASHLESAGYYLKMVIAHTKSLDPSRPVT
  FVSNSNYAADKGAPYVDVICLNSYYSWYHDYGHLELIQLQLATQFENWYKKYQKPIIQSE
  YGAETIAGFHQDPPLMFTEEYQKSLLEQYHLGLDQKRRKYVVGELIWNFADFMTEQSPTR
  VLGNKKGIFTRQRQPKSAAFLLRERYWKIANETRYPHSVAKSQCLENSLFT

• Sequence length: 651

Pathways

KEGG:

Pentose and glucuronate interconversions
Ascorbate and aldarate metabolism
Glycosaminoglycan degradation
Porphyrin metabolism
Drug metabolism - other enzymes
Metabolic pathways
Biosynthesis of cofactors
Lysosome

Reactome:

HS-GAG degradation
Hyaluronan uptake and degradation
MPS VII - Sly syndrome
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
GUSB-related disorder	Pathogenic; Likely pathogenic	rs121918181, rs121918184, rs773510214	RCV003914794 RCV003398406 RCV003422481	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucopolysaccharidosis type 6	Pathogenic	rs121918181, rs1434169374	RCV000586449 RCV000590006	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucopolysaccharidosis type 7	Pathogenic; Likely pathogenic	rs1344332366, rs1791443181, rs1210475838, rs587779400, rs1791836120, rs2116026958, rs1377855703, rs1583879945, rs764018631, rs121918172, rs121918173, rs121918174, rs121918177, rs121918179, rs377519272, rs121918183, rs786200863, rs121918180, rs121918181, rs121918182, rs121918184, rs121918185, rs2115900875, rs747048051, rs1417426295, rs764866250, rs2484806814, rs2484840248, rs2484858985, rs2484838592, rs2484748474, rs1271928727, rs773510214, rs1583955795, rs2484813628, rs2484838210, rs1260794203, rs2484858423, rs1791107315, rs1562678869, rs2484805672, rs2484858214, rs2484734326, rs2484857180, rs935464108, rs2484765979, rs2484846029, rs1156563889, rs1177306016, rs1792080911, rs2484858344, rs2484800908, rs2484845928, rs2484733748, rs776287966, rs2484749278, rs2484841000, rs1791872095, rs769769379, rs2484748655, rs1554303791, rs2484734390, rs886527135, rs1198438958, rs1434169374, rs1053785648, rs1238361161, rs1451709678, rs1264172545, rs1236992554, rs765969571	RCV001644997 RCV001644996 RCV001388397 RCV000087087 RCV001548754 RCV003226648 RCV005047995 RCV001824225 RCV001825115 RCV000000941 RCV000000942 RCV000000943 RCV000000946 RCV000000948 RCV000000949 RCV000000950 RCV000000951 RCV000000952 RCV000000953 RCV000000954 RCV000000955 RCV000000956 RCV002254378 RCV002637839 RCV002510326 RCV002908998 RCV003007803 RCV003016456 RCV003045972 RCV003039047 RCV003145936 RCV003145946 RCV003495337 RCV003448854 RCV003495535 RCV003496129 RCV003496926 RCV003497182 RCV003497262 RCV003494663 RCV003494756 RCV003494987 RCV003495893 RCV003495821 RCV003496639 RCV003600552 RCV003600816 RCV003601350 RCV003601413 RCV003601468 RCV003602275 RCV003602379 RCV003602471 RCV003602362 RCV003600112 RCV003600044 RCV003600078 RCV003599997 RCV003600949 RCV003601112 RCV003601166 RCV003828017 RCV003986019 RCV003986020 RCV003989964 RCV001206155 RCV001783100 RCV000721977 RCV000758004 RCV000781445 RCV000855534 RCV001205414 RCV001251384	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Non-immune hydrops fetalis	Likely pathogenic; Pathogenic	rs121918173, rs121918185, rs786205671	RCV000170573 RCV000170582 RCV000170580	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs377519272	RCV005887148	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; other; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS VI	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS VII	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS, TYPE VII	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROTEINURIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	BEFREE	31442675		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21350582		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	24195516		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	5428855		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	21335363, 24009136		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	30634702		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	30634702		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	24334460		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	20813001		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29161267, 6146401		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16391819, 27324944, 31136203		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18042273, 27324944	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	3433017		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35812439	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29161267, 6146401		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12954121		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25225161	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	25586097, 27840988		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	36010590	Associate	★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	10606311, 26625708		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	10606311, 26625708		★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	BEFREE	25959528		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20813001		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	BEFREE	30653816		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	22815676, 30967260		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29697280, 30894110		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31096909		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	BEFREE	31442675		★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28451454		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30105468		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	23511033, 26824357		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	26824357	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	3228144		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	9989241	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31146169		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	23032151, 31146169		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36749929	Stimulate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysbiosis	Dysbiosis	Pubtator	39456258	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	17509753		★☆☆☆☆ Found in Text Mining only
Gallstones	Gallstones	Pubtator	26625708	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal inflammation	Gastrointestinal inflammation	BEFREE	22815676		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	37784132	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	31661765	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	28262749		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28451454		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	28530135		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	GENOMICS_ENGLAND_DG	24284886		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	BEFREE	9774663		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	CLINVAR_DG	26036949		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	BEFREE	30442200, 31727109		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperbilirubinemia	Hyperbilirubinemia	Pubtator	33411719	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	25193495	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	26772907		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30967260		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30442188		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Diseases	Intestinal Diseases	BEFREE	28741151, 30149692		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	31173291	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15339675		★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	37784132	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29400050		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	29400050		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	20037605	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	8736208	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	21319141	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	28262749		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16391819, 27324944, 31136203		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	25586097, 27840988		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28262749		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26648021, 28116598		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27685626		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29161267, 6146401		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10753066, 20619346, 27595937, 29400050, 30857263, 30894110, 31636122		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29697280, 30894110		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	17942938		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	28825628		★☆☆☆☆ Found in Text Mining only
Mucolipidoses	Mucolipidosis	Pubtator	1309624, 2959666	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidoses	Mucopolysaccharidosis	Pubtator	21743015	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis I	Mucopolysaccharidosis	Pubtator	3112309, 31603145, 401508	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis type 7	Mucopolysaccharidosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mucopolysaccharidosis VI	Mucopolysaccharidosis	CLINVAR_DG	12403825, 12859417, 19224584, 26908836, 30413728, 8089138, 8644704, 9490302, 9921904		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis VI	Mucopolysaccharidosis	Pubtator	40391866	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis VII	Mucopolysaccharidosis	BEFREE	10022533, 10366443, 10367775, 10724030, 10933913, 10933961, 10985954, 11044913, 11228259, 11433275, 11549068, 11592832, 11829521, 11906211, 11991753, 12121741, 12232044, 12406886, 1318788, 1456283, 14599804, 15194052, 16636519, 1702266, 1779649, 18268347, 19224584, 20345279, 20864369, 2111021, 2115490, 2158095, 22513347, 22815736, 23777470, 24343103, 25468648, 26415878, 27648682, 28530135, 28581485, 29774506, 30091163, 30413728, 30459155, 30467742, 30653816, 30848434, 3924735, 7633414, 7644479, 7925654, 8707294, 9037045, 9099834, 9212105, 9490302, 9521879, 9543069, 9774663, 9921904, 9987917		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis VII	Mucopolysaccharidosis	UNIPROT_DG	12522561, 12859417, 1702266, 7573038, 7633414, 7680524, 8089138, 8111412, 8111413, 8644704, 8707294, 9099834, 9490302		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis VII	Mucopolysaccharidosis	GENOMICS_ENGLAND_DG	12522561, 24284886, 27604308, 4265197		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis VII	Mucopolysaccharidosis	Pubtator	1318788, 24260279, 28207930, 30413728, 31661765, 7573038, 8089138	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis VII	Mucopolysaccharidosis	CLINVAR_DG	19224584, 23777470, 26036949, 7573038, 7633414, 7680524, 8644704, 9099834		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis VII	Mucopolysaccharidosis	ORPHANET_DG	19224584		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis VII	Mucopolysaccharidosis	Pubtator	38442846, 7573038, 9155679	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis VII	Mucopolysaccharidosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	16825513, 16945414		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	1964582		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	23467769		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12052215, 12954121, 14618298, 16636519, 17942938, 18369382, 21350582, 24195516, 26648021, 28385219, 29400050, 29433203, 29627657, 30333909, 31136203, 31155843		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	15339675		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	CTD_human_DG	7073948, 7107415		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	BEFREE	27595937		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	28825628, 40391866	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28398245		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	36010590	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	25586097, 27840988		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	8282116	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28262749		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28262749	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	31645594		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	21335363		★☆☆☆☆ Found in Text Mining only
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	24009136		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	29493420		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26648021, 28116598		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	27648682		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	12905469		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17202338, 24334460		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	8736208	Stimulate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	17318883		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	BEFREE	30442188		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27685626		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	31645594	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	31645594		★☆☆☆☆ Found in Text Mining only
Type II Mucolipidosis	Mucolipidosis	BEFREE	1309624		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33057113	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	21319141	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	34630418	Associate	★☆☆☆☆ Found in Text Mining only