FUCA1 (alpha-L-fucosidase 1)

Gene

• Entrez ID: 2517
• Gene name: Alpha-L-fucosidase 1
• Gene symbol: FUCA1
• Synonyms (NCBI Gene): FUCA
• Chromosome: 1
• Chromosome location: 1p36.11
• Summary: The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disea

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80358195	C>A,G	Pathogenic	Missense variant, coding sequence variant, stop gained
rs80358196	G>A	Pathogenic	5 prime UTR variant, genic upstream transcript variant, stop gained, upstream transcript variant, coding sequence variant
rs80358197	C>T	Pathogenic	Coding sequence variant, stop gained
rs80358198	G>A,T	Benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs80358199	A>C	Pathogenic	Missense variant, coding sequence variant
rs118204450	G>A	Pathogenic	Stop gained, coding sequence variant
rs189315801	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant, 5 prime UTR variant
rs587779398	G>A	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs587779399	G>A	Pathogenic	Stop gained, coding sequence variant
rs753232669	C>A,G	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs781230182	A>G,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant, 5 prime UTR variant
rs794727774	C>T	Pathogenic	Coding sequence variant, stop gained
rs864309551	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1057521087	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1557510081	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1570679652	C>T	Pathogenic	Splice donor variant
rs1570692560	AACCAGGCCG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT727636	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT727635	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT727634	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT727632	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT727633	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT1006087	hsa-miR-1208	CLIP-seq
MIRT1006088	hsa-miR-1256	CLIP-seq
MIRT1006089	hsa-miR-181a	CLIP-seq
MIRT1006090	hsa-miR-181b	CLIP-seq
MIRT1006091	hsa-miR-181c	CLIP-seq
MIRT1006092	hsa-miR-181d	CLIP-seq
MIRT1006093	hsa-miR-2278	CLIP-seq
MIRT1006094	hsa-miR-23a	CLIP-seq
MIRT1006095	hsa-miR-23b	CLIP-seq
MIRT1006096	hsa-miR-23c	CLIP-seq
MIRT1006097	hsa-miR-30a	CLIP-seq
MIRT1006098	hsa-miR-30b	CLIP-seq
MIRT1006099	hsa-miR-30c	CLIP-seq
MIRT1006100	hsa-miR-30d	CLIP-seq
MIRT1006101	hsa-miR-30e	CLIP-seq
MIRT1006102	hsa-miR-3164	CLIP-seq
MIRT1006103	hsa-miR-34c-3p	CLIP-seq
MIRT1006104	hsa-miR-3607-3p	CLIP-seq
MIRT1006105	hsa-miR-3667-3p	CLIP-seq
MIRT1006106	hsa-miR-3910	CLIP-seq
MIRT1006107	hsa-miR-4262	CLIP-seq
MIRT1006108	hsa-miR-4468	CLIP-seq
MIRT1006109	hsa-miR-4484	CLIP-seq
MIRT1006110	hsa-miR-4760-5p	CLIP-seq
MIRT1006111	hsa-miR-500a	CLIP-seq
MIRT1006112	hsa-miR-548an	CLIP-seq
MIRT1006113	hsa-miR-633	CLIP-seq
MIRT1006114	hsa-miR-664	CLIP-seq
MIRT1006087	hsa-miR-1208	CLIP-seq
MIRT1006097	hsa-miR-30a	CLIP-seq
MIRT1006098	hsa-miR-30b	CLIP-seq
MIRT1006099	hsa-miR-30c	CLIP-seq
MIRT1006100	hsa-miR-30d	CLIP-seq
MIRT1006101	hsa-miR-30e	CLIP-seq
MIRT1006103	hsa-miR-34c-3p	CLIP-seq
MIRT1006104	hsa-miR-3607-3p	CLIP-seq
MIRT1006110	hsa-miR-4760-5p	CLIP-seq
MIRT2231770	hsa-miR-579	CLIP-seq
MIRT1006113	hsa-miR-633	CLIP-seq
MIRT1006114	hsa-miR-664	CLIP-seq
MIRT1006087	hsa-miR-1208	CLIP-seq
MIRT1006097	hsa-miR-30a	CLIP-seq
MIRT1006098	hsa-miR-30b	CLIP-seq
MIRT1006099	hsa-miR-30c	CLIP-seq
MIRT1006100	hsa-miR-30d	CLIP-seq
MIRT1006101	hsa-miR-30e	CLIP-seq
MIRT1006103	hsa-miR-34c-3p	CLIP-seq
MIRT1006104	hsa-miR-3607-3p	CLIP-seq
MIRT1006110	hsa-miR-4760-5p	CLIP-seq
MIRT1006088	hsa-miR-1256	CLIP-seq
MIRT2535778	hsa-miR-1273g	CLIP-seq
MIRT2535779	hsa-miR-1293	CLIP-seq
MIRT2535780	hsa-miR-133a	CLIP-seq
MIRT2535781	hsa-miR-133b	CLIP-seq
MIRT2535782	hsa-miR-154	CLIP-seq
MIRT2535783	hsa-miR-3121-3p	CLIP-seq
MIRT2535784	hsa-miR-3129-3p	CLIP-seq
MIRT2535785	hsa-miR-3148	CLIP-seq
MIRT1006102	hsa-miR-3164	CLIP-seq
MIRT2535786	hsa-miR-326	CLIP-seq
MIRT2535787	hsa-miR-330-5p	CLIP-seq
MIRT2535788	hsa-miR-34b	CLIP-seq
MIRT2535789	hsa-miR-361-5p	CLIP-seq
MIRT2535790	hsa-miR-3662	CLIP-seq
MIRT1006105	hsa-miR-3667-3p	CLIP-seq
MIRT2535791	hsa-miR-3674	CLIP-seq
MIRT1006106	hsa-miR-3910	CLIP-seq
MIRT2535792	hsa-miR-3913-3p	CLIP-seq
MIRT2535793	hsa-miR-3919	CLIP-seq
MIRT2535794	hsa-miR-3925-5p	CLIP-seq
MIRT2535795	hsa-miR-3935	CLIP-seq
MIRT2535796	hsa-miR-3978	CLIP-seq
MIRT2535797	hsa-miR-4277	CLIP-seq
MIRT2535798	hsa-miR-4330	CLIP-seq
MIRT2535799	hsa-miR-4483	CLIP-seq
MIRT1006109	hsa-miR-4484	CLIP-seq
MIRT2535800	hsa-miR-4695-3p	CLIP-seq
MIRT2535801	hsa-miR-4699-5p	CLIP-seq
MIRT2535802	hsa-miR-4756-3p	CLIP-seq
MIRT2535803	hsa-miR-4773	CLIP-seq
MIRT1006111	hsa-miR-500a	CLIP-seq
MIRT2535804	hsa-miR-510	CLIP-seq
MIRT2535805	hsa-miR-512-5p	CLIP-seq
MIRT1006112	hsa-miR-548an	CLIP-seq
MIRT2535806	hsa-miR-563	CLIP-seq
MIRT2535807	hsa-miR-577	CLIP-seq
MIRT2535808	hsa-miR-9	CLIP-seq
MIRT1006088	hsa-miR-1256	CLIP-seq
MIRT2535778	hsa-miR-1273g	CLIP-seq
MIRT2535780	hsa-miR-133a	CLIP-seq
MIRT2535781	hsa-miR-133b	CLIP-seq
MIRT2535782	hsa-miR-154	CLIP-seq
MIRT2535783	hsa-miR-3121-3p	CLIP-seq
MIRT2535784	hsa-miR-3129-3p	CLIP-seq
MIRT2535785	hsa-miR-3148	CLIP-seq
MIRT1006102	hsa-miR-3164	CLIP-seq
MIRT2535786	hsa-miR-326	CLIP-seq
MIRT2535787	hsa-miR-330-5p	CLIP-seq
MIRT2535788	hsa-miR-34b	CLIP-seq
MIRT2535789	hsa-miR-361-5p	CLIP-seq
MIRT2535790	hsa-miR-3662	CLIP-seq
MIRT1006105	hsa-miR-3667-3p	CLIP-seq
MIRT1006106	hsa-miR-3910	CLIP-seq
MIRT2535792	hsa-miR-3913-3p	CLIP-seq
MIRT2535793	hsa-miR-3919	CLIP-seq
MIRT2535794	hsa-miR-3925-5p	CLIP-seq
MIRT2535796	hsa-miR-3978	CLIP-seq
MIRT2535797	hsa-miR-4277	CLIP-seq
MIRT2535798	hsa-miR-4330	CLIP-seq
MIRT1006108	hsa-miR-4468	CLIP-seq
MIRT1006109	hsa-miR-4484	CLIP-seq
MIRT2535800	hsa-miR-4695-3p	CLIP-seq
MIRT2535801	hsa-miR-4699-5p	CLIP-seq
MIRT2535802	hsa-miR-4756-3p	CLIP-seq
MIRT2535803	hsa-miR-4773	CLIP-seq
MIRT1006111	hsa-miR-500a	CLIP-seq
MIRT2681224	hsa-miR-503	CLIP-seq
MIRT2535804	hsa-miR-510	CLIP-seq
MIRT2535805	hsa-miR-512-5p	CLIP-seq
MIRT1006112	hsa-miR-548an	CLIP-seq
MIRT2535806	hsa-miR-563	CLIP-seq
MIRT2681225	hsa-miR-570	CLIP-seq
MIRT2535808	hsa-miR-9	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004560	Function	Alpha-L-fucosidase activity	IBA
GO:0004560	Function	Alpha-L-fucosidase activity	IDA	19666478
GO:0004560	Function	Alpha-L-fucosidase activity	IEA
GO:0004560	Function	Alpha-L-fucosidase activity	TAS	4074382, 11698403
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	TAS	4074382
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IEA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006004	Process	Fucose metabolic process	IBA
GO:0006004	Process	Fucose metabolic process	IDA	19666478
GO:0006004	Process	Fucose metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016139	Process	Glycoside catabolic process	IBA
GO:0016139	Process	Glycoside catabolic process	IDA	19666478
GO:0016139	Process	Glycoside catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0019377	Process	Glycolipid catabolic process	ISS
GO:0035578	Component	Azurophil granule lumen	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0043202	Component	Lysosomal lumen	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

Other IDs

• MIM: 612280
• HGNC: 4006
• e!Ensembl: ENSG00000179163

Protein

• UniProt ID: P04066
• Protein name: Tissue alpha-L-fucosidase (EC 3.2.1.51) (Alpha-L-fucosidase I) (Alpha-L-fucoside fucohydrolase 1) (Alpha-L-fucosidase 1)
• Protein function: Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins.
• PDB: 7PLS, 7PM4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01120	Alpha_L_fucos	24 → 367	Alpha-L-fucosidase	Domain
  PF16757	Fucosidase_C	378 → 463	Alpha-L-fucosidase C-terminal domain	Domain

• Sequence:

  MRAPGMRSRPAGPALLLLLLFLGAAESVRRAQPPRRYTPDWPSLDSRPLPAWFDEAKFGV
  FIHWGVFSVPAWGSEWFWWHWQGEGRPQYQRFMRDNYPPGFSYADFGPQFTARFFHPEEW
  ADLFQAAGAKYVVLTTKHHEGFTNWPSPVSWNWNSKDVGPHRDLVGELGTALRKRNIRYG
  LYHSLLEWFHPLYLLDKKNGFKTQHFVSAKTMPELYDLVNSYKPDLIWSDGEWECPDTYW
  NSTNFLSWLYNDSPVKDEVVVNDRWGQNCSCHHGGYYNCEDKFKPQSLPDHKWEMCTSID
  KFSWGYRRDMALSDVTEESEIISELVQTVSLGGNYLLNIGPTKDGLIVPIFQERLLAVGK
  WLSINGEAIYASKPWRVQWEKNTTSVWYTSKGSAVYAIFLHWPENGVLNLESPITTSTTK
  ITMLGIQGDLKWSTDPDKGLFISLPQLPPSAVPAEFAWTIKLTGVK

• Sequence length: 466

Pathways

KEGG:

Other glycan degradation
Lysosome

Reactome:

Neutrophil degranulation
Reactions specific to the complex N-glycan synthesis pathway

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
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs1639468949	RCV001814299	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FUCA1-related disorder	Likely pathogenic; Pathogenic	rs864309551, rs776845108	RCV003407716 RCV003966337	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fucosidosis	Pathogenic; Likely pathogenic	rs587779398, rs587779399, rs1639669672, rs1186488065, rs2148446020, rs997047045, rs118204450, rs80358195, rs1570679652, rs80358196, rs80358197, rs80358198, rs2521745894, rs774846977, rs80358199, rs2521731093, rs1026833196, rs2521745643, rs1353778985, rs794727774, rs864309551, rs1335019385, rs1334038475, rs781230182, rs2521760820, rs781660340, rs776845108, rs1639468949, rs2521635192, rs1441298926, rs2521730814, rs2521634441, rs1267309141, rs1330811896, rs2521759907, rs1484147379, rs760219584, rs140858903, rs550501788, rs1250037816, rs2521617594, rs2521730880, rs776324076, rs2521616187, rs2521745475, rs1557506070, rs1263748674, rs2521634585, rs189315801, rs1557510081, rs1570692560, rs1639666186, rs1639470403, rs764863416, rs1177361428, rs1639662557, rs1639663980, rs941666554, rs201499886, rs1639662981, rs766794815	RCV000087085 RCV000087086 RCV001781138 RCV002541310 RCV001972670 RCV001949421 RCV000000716 RCV000000718 RCV000000719 RCV000000720 RCV000000721 RCV000000722 RCV000000723 RCV000000725 RCV000000727 RCV002310614 RCV002596380 RCV002630057 RCV002630058 RCV000179259 RCV003597966 RCV003145725 RCV003155749 RCV002229726 RCV003326295 RCV003340936 RCV003388337 RCV003496521 RCV003496285 RCV003496511 RCV003496355 RCV003496416 RCV003495028 RCV003495034 RCV003495621 RCV003495880 RCV003598349 RCV003599242 RCV003599505 RCV003599533 RCV003599721 RCV003597597 RCV003597709 RCV003597755 RCV003597858 RCV003598630 RCV003598682 RCV003598740 RCV003861235 RCV003988676 RCV000578267 RCV000781387 RCV000984520 RCV001260240 RCV001250216 RCV001806089 RCV001257914 RCV001257915 RCV001257916 RCV001257917 RCV001260319 RCV001264832 RCV001264840 RCV001281353	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Pathogenic	rs764863416	RCV001251771	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FU1/FU2 POLYMORPHISM	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	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	28404918		★☆☆☆☆ Found in Text Mining only
Angiokeratoma	Angiokeratoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anhidrosis	Anhidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28808940		★☆☆☆☆ Found in Text Mining only
Body Weight	Body weight	Pubtator	23839870	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29632639		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26204487	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	21607540	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23965968		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	23965968		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23965968	Inhibit	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fucosidase Deficiency Disease	Fucosidase Deficiency Disease	BEFREE	10094192, 12408193, 17427030, 26515723, 27491218, 27706744, 2903667, 2903668, 29518279, 29706874, 31064022, 31531202, 8504303		★☆☆☆☆ Found in Text Mining only
Fucosidase Deficiency Disease	Fucosidase Deficiency Disease	ORPHANET_DG	10094192		★☆☆☆☆ Found in Text Mining only
Fucosidase Deficiency Disease	Fucosidase Deficiency Disease	CLINVAR_DG	10094192, 1281988, 2803224, 8401503, 8504303, 8739734, 9039984		★☆☆☆☆ Found in Text Mining only
Fucosidase Deficiency Disease	Fucosidase Deficiency Disease	GENOMICS_ENGLAND_DG	1281988, 25655951, 27604308, 8097260, 8504303		★☆☆☆☆ Found in Text Mining only
Fucosidase Deficiency Disease	Fucosidase Deficiency Disease	UNIPROT_DG	7874128, 8504303, 9762612		★☆☆☆☆ Found in Text Mining only
Fucosidase Deficiency Disease	Fucosidase Deficiency Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Fucosidosis	Fucosidosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fucosidosis Type I	Fucosidosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Fucosidosis Type II	Fucosidosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Gallbladder anomaly congenital	Congenital Gallbladder Anomaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	1281988		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	26998741	Associate	★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	39865383	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29632639		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	28404918, 28440416, 28731163		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26998741, 28404918, 29632639, 30729618		★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	30729618		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis I	Mucopolysaccharidosis	Pubtator	31603145	Associate	★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	BEFREE	30729618		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23965968, 28404918		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	33308057	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	28404918		★☆☆☆☆ Found in Text Mining only
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	37552420	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Diseases, Vascular	Skin Diseases, Vascular	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	29518279		★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	30729618		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	21607540	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	28404918, 28440416, 28731163		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	28404918		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26204487	Associate	★☆☆☆☆ Found in Text Mining only