Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	29925
Gene name	GDP-mannose pyrophosphorylase B
Gene symbol	GMPPB
Synonyms (NCBI Gene)	LGMDR19MDDGA14MDDGB14MDDGC14
Chromosome	3
Chromosome location	3p21.31
Summary	This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcrip

Show/Hide all (21)

SNP ID	Visualize variation	Clinical significance	Consequence
rs141588721	C>G,T	Likely-pathogenic	Splice donor variant
rs142336618	C>G	Pathogenic	Missense variant, coding sequence variant
rs142908436	G>A,T	Pathogenic, likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs145564018	C>T	Likely-pathogenic	Splice donor variant
rs202013297	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs202160208	C>T	Pathogenic	Coding sequence variant, missense variant
rs397509423	G>A	Pathogenic	Coding sequence variant, stop gained
rs397509424	G>A	Pathogenic	Missense variant, coding sequence variant
rs397509425	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397509426	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs761714818	A>G	Pathogenic	Missense variant, coding sequence variant
rs763971677	G>A	Pathogenic	Coding sequence variant, stop gained
rs875989850	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs875989851	G>A	Pathogenic	Missense variant, coding sequence variant
rs886039382	C>T	Pathogenic	Splice acceptor variant
rs1191822017	CGGGCCAGCGCCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1348189028	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553691918	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553691975	->CT	Pathogenic	Frameshift variant, coding sequence variant
rs1559697183	G>A	Pathogenic	Stop gained, coding sequence variant
rs1559697515	T>C	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all (26)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019376	hsa-miR-148b-3p	Microarray	17612493
MIRT043742	hsa-miR-328-3p	CLASH	23622248
MIRT041226	hsa-miR-193b-3p	CLASH	23622248
MIRT1022740	hsa-miR-214	CLIP-seq
MIRT1022741	hsa-miR-3151	CLIP-seq
MIRT1022742	hsa-miR-3170	CLIP-seq
MIRT1022743	hsa-miR-342-5p	CLIP-seq
MIRT1022744	hsa-miR-3619-5p	CLIP-seq
MIRT1022745	hsa-miR-4265	CLIP-seq
MIRT1022746	hsa-miR-4296	CLIP-seq
MIRT1022747	hsa-miR-4322	CLIP-seq
MIRT1022748	hsa-miR-4447	CLIP-seq
MIRT1022749	hsa-miR-4455	CLIP-seq
MIRT1022750	hsa-miR-4472	CLIP-seq
MIRT1022751	hsa-miR-4481	CLIP-seq
MIRT1022752	hsa-miR-4530	CLIP-seq
MIRT1022753	hsa-miR-4651	CLIP-seq
MIRT1022754	hsa-miR-4664-5p	CLIP-seq
MIRT1022755	hsa-miR-4713-3p	CLIP-seq
MIRT1022756	hsa-miR-4722-3p	CLIP-seq
MIRT1022757	hsa-miR-4745-5p	CLIP-seq
MIRT1022758	hsa-miR-491-5p	CLIP-seq
MIRT1022759	hsa-miR-608	CLIP-seq
MIRT1022760	hsa-miR-761	CLIP-seq
MIRT2003163	hsa-miR-361-3p	CLIP-seq
MIRT2003164	hsa-miR-4313	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004475	Function	Mannose-1-phosphate guanylyltransferase (GTP) activity	EXP	33986552
GO:0004475	Function	Mannose-1-phosphate guanylyltransferase (GTP) activity	IBA
GO:0004475	Function	Mannose-1-phosphate guanylyltransferase (GTP) activity	IDA	33986552
GO:0004475	Function	Mannose-1-phosphate guanylyltransferase (GTP) activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 31515488, 32296183, 33961781, 33986552
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	23768512
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006486	Process	Protein glycosylation	IBA
GO:0009298	Process	GDP-mannose biosynthetic process	IBA
GO:0009298	Process	GDP-mannose biosynthetic process	IEA
GO:0009298	Process	GDP-mannose biosynthetic process	IMP	26310427
GO:0009298	Process	GDP-mannose biosynthetic process	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0019673	Process	GDP-mannose metabolic process	IDA	33986552
GO:0046872	Function	Metal ion binding	IEA
GO:0061728	Process	GDP-mannose biosynthetic process from mannose	IEA
GO:0120508	Component	GDP-mannose pyrophosphorylase complex	IDA	33986552

MIM	HGNC	e!Ensembl
615320	22932	ENSG00000173540

Q9Y5P6

Protein name

Mannose-1-phosphate guanylyltransferase catalytic subunit beta (EC 2.7.7.13) (GDP-mannose pyrophosphorylase B) (GTP-mannose-1-phosphate guanylyltransferase beta)

Protein function

Catalytic subunit of the GMPPA-GMPPB mannose-1-phosphate guanylyltransferase complex (PubMed:33986552). Catalyzes the formation of GDP-mannose, an essential precursor of glycan moieties of glycoproteins and glycolipids (PubMed:33986552). Can cat

PDB

7D72 , 7D73 , 7D74

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00483	NTP_transferase	2 → 235	Nucleotidyl transferase	Family
PF00132	Hexapep	259 → 294	Bacterial transferase hexapeptide (six repeats)	Repeat

Tissue specificity

TISSUE SPECIFICITY: [Isoform 1]: Ubiquitously expressed, including in brain and skeletal muscle. {ECO:0000269|PubMed:23768512}.; TISSUE SPECIFICITY: [Isoform 2]: Weakly expressed with highest expression in skeletal muscle, brain and gonads. {ECO:0000269|P

Sequence

MKALILVGGYGTRLRPLTLSTPKPLVDFCNKPILLHQVEALAAAGVDHVILAVSYMSQVL
EKEMKAQEQRLGIRISMSHEEEPLGTAGPLALARDLLSETADPFFVLNSDVICDFPFQAM
VQFHRHHGQEGSILVTKVEEPSKYGVVVCEADTGRIHRFVEKPQVFVSNKINAGMYILSP
AVLQRIQLQPTSIEKEVFPIMAKEGQLYAMELQGFWMDIGQPKDFLTGMCLFLQSLRQKQ
PERLCSGPGIVGNVLVDPSARIGQNCSIGPNVSLGPGVVVEDGVCIRRCTVLRDARIRSH
SWLESCIVGWRCRVGQWVRMENVTVLGEDVIVNDELYLNGASVLPHKSIGESVPEPRIIM

Sequence length

360

Interactions

View interactions

	KEGG
	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways Biosynthesis of cofactors Biosynthesis of nucleotide sugars

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)

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the musculature	Likely pathogenic; Pathogenic	rs2108211362, rs875989851, rs1553691918, rs761714818, rs397509422, rs202160208	RCV001814435 RCV001814120 RCV001814186 RCV001814219 RCV001836725 RCV001814035 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acute rhabdomyolysis	Likely pathogenic; Pathogenic	rs142336618	RCV005865226	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive limb-girdle muscular dystrophy type 2T	Likely pathogenic; Pathogenic	rs2080423660, rs1365085828, rs766298888, rs2108213393, rs764625823, rs1210040661, rs2080421905, rs769459081, rs2544756965, rs1204528532, rs1283105162, rs2544752296, rs142908436, rs875989850, rs875989851 View all (24 more)	RCV001377618 RCV001384680 RCV001729998 RCV003152771 RCV001991893 View all (34 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Elevated circulating creatine kinase concentration	Pathogenic	rs1559697515	RCV000678462	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GMPPB-related disorder	Likely pathogenic; Pathogenic	rs761714818, rs202013297, rs141588721, rs397509422, rs202160208, rs142336618	RCV004547864 RCV005870880 RCV004782552 RCV004549480 RCV003407434 RCV003421962 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Limb-girdle muscular dystrophy	Likely pathogenic; Pathogenic	rs397509422	RCV005625254	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy	Pathogenic; Likely pathogenic	rs142908436, rs142336618	RCV000609930 RCV000610921	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy-dystroglycanopathy	Likely pathogenic; Pathogenic	rs397509425, rs199922550	RCV000503216 RCV000501778	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14	Likely pathogenic; Pathogenic	rs2080423660, rs1365085828, rs764625823, rs1210040661, rs2080421905, rs769459081, rs2544756965, rs1204528532, rs1283105162, rs2544752296, rs142908436, rs875989850, rs2080456894, rs2544753930, rs141588721 View all (18 more)	RCV001377618 RCV001384680 RCV001991893 RCV002016193 RCV003079049 View all (29 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14	Likely pathogenic; Pathogenic	rs2080423660, rs1365085828, rs764625823, rs1210040661, rs2080421905, rs769459081, rs2544756965, rs1204528532, rs1283105162, rs2544752296, rs142908436, rs875989850, rs2080456894, rs2544753930, rs1553691975 View all (17 more)	RCV001377618 RCV001384680 RCV001991893 RCV002016193 RCV003079049 View all (27 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myopathy caused by variation in GMPPB	Likely pathogenic	rs1175885498	RCV003226078	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2T	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CMD DUE TO DYSTROGLYCANOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MUSCULAR DYSTROPHY WITH CEREBELLAR INVOLVEMENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYASTHENIC SYNDROME	—	ClinVar, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYASTHENIC SYNDROME WITH GLYCOSYLATION DEFECT	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYASTHENIC SYNDROMES WITH GLYCOSYLATION DEFECT	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant lymphoma, large B-cell, diffuse	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCLE EYE BRAIN DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCLE-EYE-BRAIN DISEASE	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROMES, CONGENITAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WALKER-WARBURG CONGENITAL MUSCULAR DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WALKER-WARBURG SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (97)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha-Dystroglycanopathies	alpha-Dystroglycanopathy	BEFREE	30126629		★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha-Dystroglycanopathies	alpha-Dystroglycanopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	33060286	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	30257713	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Centronuclear myopathy	Centronuclear Myopathy	BEFREE	31378432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cobblestone Lissencephaly	Cobblestone Lissencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	35211808	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital meningocele	Congenital Meningocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy with cerebellar involvement	Congenital Muscular Dystrophy With Cerebellar Involvement	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital muscular dystrophy with intellectual disability	Congenital Muscular Dystrophy With Intellectual Disability	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myasthenic syndromes with glycosylation defect	Congenital Myasthenic Syndromes With Glycosylation Defect	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	26310427	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Generalized epilepsy	Pubtator	24780531	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	24780531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	30257713	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facioscapulohumeral muscular dystrophy 1a	Facioscapulohumeral muscular dystrophy	Pubtator	33386810	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized limb muscle atrophy	Limb Muscle Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37834154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GMPPB-related limb-girdle muscular dystrophy R19	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	25681410, 28478914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lambert-Eaton Myasthenic Syndrome	Lambert-Eaton Myasthenic Syndrome	BEFREE	27147698, 28433477		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	28478914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic myopathy	Metabolic Myopathy	BEFREE	30257713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	19901254, 23768512, 25681410, 25770200, 26133662		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscle eye brain disease	Muscle Eye Brain Disease	ORPHANET_DG	23768512		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscle eye brain disease	Muscle Eye Brain Disease	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscle-eye-brain disease	Muscle Eye Brain Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	23768512, 24035193, 25681410, 26404900, 28433477, 28478914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	CLINVAR_DG	23768512, 25681410, 26133662, 26310427, 27147698, 27527004, 27766311, 27874200		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Dystrophy	Muscular dystrophy	BEFREE	26133662, 26310427, 28478914, 31378432		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K	Limb-girdle muscular dystrophy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1	Muscular Dystrophy-Dystroglycanopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies	CLINVAR_DG	23768512, 23894383, 24780531, 25681410, 25770200, 26133662, 26310427, 27766311, 27874200, 28433477, 28478914		★★★★★ ★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies	GENOMICS_ENGLAND_DG	23768512, 25529582		★★★★★ ★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies	UNIPROT_DG	23768512		★★★★★ ★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	Congenital Muscular Dystrophy-Dystroglycanopathy With Mental Retardation	CLINVAR_DG	23768512, 23894383, 24780531, 25681410, 25770200, 26133662, 26310427, 27766311, 27874200, 28433477, 28478914		★★★★★ ★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	Congenital Muscular Dystrophy-Dystroglycanopathy With Mental Retardation	GENOMICS_ENGLAND_DG	23768512, 25529582		★★★★★ ★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	Congenital Muscular Dystrophy-Dystroglycanopathy With Mental Retardation	UNIPROT_DG	23768512		★★★★★ ★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	Congenital Muscular Dystrophy-Dystroglycanopathy With Mental Retardation	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	CLINVAR_DG	23768512, 23894383, 24780531, 25681410, 25770200, 26133662, 26310427, 27766311, 27874200, 28433477, 28478914		★★★★★ ★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	GENOMICS_ENGLAND_DG	23768512, 25529582		★★★★★ ★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	ORPHANET_DG	23768512		★★★★★ ★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	UNIPROT_DG	23768512, 26310427, 28433477, 28478914		★★★★★ ★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenic Syndrome	Myasthenic Syndrome	BEFREE	27147698, 28433477		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	26133662, 27147698, 30257713, 31211170, 31378432, 34633329, 35670010, 36308527, 37721175	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	26133662, 27147698, 27472506, 28433477, 28478914, 30257713, 31211170, 31378432		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	27147698		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Occipital Encephalocele	Occipital Encephalocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

GMPPB (GDP-mannose pyrophosphorylase B)