MAN1B1 (mannosidase alpha class 1B member 1)

Gene

• Entrez ID: 11253
• Gene name: Mannosidase alpha class 1B member 1
• Gene symbol: MAN1B1
• Synonyms (NCBI Gene): ERMAN1, ERManI, MANA-ER, MRT15
• Chromosome: 9
• Chromosome location: 9q34.3
• Summary: This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan tri

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs75442795	G>A,C	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, benign	Missense variant, non coding transcript variant, coding sequence variant
rs146417316	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs147529965	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs150942110	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs181795958	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	3 prime UTR variant, missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs200410163	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs747045738	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, synonymous variant, 3 prime UTR variant, coding sequence variant
rs794729645	CA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs797045688	TGAAGGATGGGAC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1164484724	C>T	Likely-pathogenic	Stop gained, coding sequence variant, 3 prime UTR variant, non coding transcript variant, synonymous variant
rs1382373816	AG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1564278864	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant
rs1564311909	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023765	hsa-miR-1-3p	Proteomics	18668040
MIRT438070	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	23940818
MIRT438070	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	23940818
MIRT1127178	hsa-miR-1289	CLIP-seq
MIRT1127179	hsa-miR-1299	CLIP-seq
MIRT1127180	hsa-miR-187	CLIP-seq
MIRT1127181	hsa-miR-1972	CLIP-seq
MIRT1127182	hsa-miR-2467-5p	CLIP-seq
MIRT1127183	hsa-miR-3180	CLIP-seq
MIRT1127184	hsa-miR-3180-3p	CLIP-seq
MIRT1127185	hsa-miR-3182	CLIP-seq
MIRT1127186	hsa-miR-3196	CLIP-seq
MIRT1127187	hsa-miR-3198	CLIP-seq
MIRT1127188	hsa-miR-3937	CLIP-seq
MIRT1127189	hsa-miR-4294	CLIP-seq
MIRT1127190	hsa-miR-4309	CLIP-seq
MIRT1127191	hsa-miR-4313	CLIP-seq
MIRT1127192	hsa-miR-433	CLIP-seq
MIRT1127193	hsa-miR-4459	CLIP-seq
MIRT1127194	hsa-miR-4650-5p	CLIP-seq
MIRT1127195	hsa-miR-4690-3p	CLIP-seq
MIRT1127196	hsa-miR-4690-5p	CLIP-seq
MIRT1127197	hsa-miR-4706	CLIP-seq
MIRT1127198	hsa-miR-4711-3p	CLIP-seq
MIRT1127199	hsa-miR-4734	CLIP-seq
MIRT1127200	hsa-miR-4738-5p	CLIP-seq
MIRT1127201	hsa-miR-4749-5p	CLIP-seq
MIRT1127202	hsa-miR-4757-5p	CLIP-seq
MIRT1127203	hsa-miR-4782-5p	CLIP-seq
MIRT1127204	hsa-miR-516b	CLIP-seq
MIRT1127205	hsa-miR-658	CLIP-seq
MIRT1127206	hsa-miR-665	CLIP-seq
MIRT1127207	hsa-miR-744	CLIP-seq
MIRT1127208	hsa-miR-765	CLIP-seq
MIRT1127209	hsa-miR-766	CLIP-seq
MIRT2036045	hsa-miR-2355-3p	CLIP-seq
MIRT2036046	hsa-miR-3614-5p	CLIP-seq
MIRT2036047	hsa-miR-3909	CLIP-seq
MIRT1127200	hsa-miR-4738-5p	CLIP-seq
MIRT1127204	hsa-miR-516b	CLIP-seq
MIRT2036048	hsa-miR-676	CLIP-seq
MIRT1127209	hsa-miR-766	CLIP-seq
MIRT2565530	hsa-miR-1250	CLIP-seq
MIRT2565531	hsa-miR-151-5p	CLIP-seq
MIRT2565532	hsa-miR-151b	CLIP-seq
MIRT2036045	hsa-miR-2355-3p	CLIP-seq
MIRT2565533	hsa-miR-296-5p	CLIP-seq
MIRT2565534	hsa-miR-3148	CLIP-seq
MIRT2565535	hsa-miR-3155	CLIP-seq
MIRT2565536	hsa-miR-3155b	CLIP-seq
MIRT2036046	hsa-miR-3614-5p	CLIP-seq
MIRT2036047	hsa-miR-3909	CLIP-seq
MIRT2565537	hsa-miR-3920	CLIP-seq
MIRT2565538	hsa-miR-3978	CLIP-seq
MIRT2565539	hsa-miR-4291	CLIP-seq
MIRT2565540	hsa-miR-4422	CLIP-seq
MIRT2565541	hsa-miR-4640-5p	CLIP-seq
MIRT2565542	hsa-miR-4676-5p	CLIP-seq
MIRT2565543	hsa-miR-4726-5p	CLIP-seq
MIRT2565544	hsa-miR-4730	CLIP-seq
MIRT2565545	hsa-miR-484	CLIP-seq
MIRT2565546	hsa-miR-545	CLIP-seq
MIRT2565547	hsa-miR-575	CLIP-seq
MIRT2565548	hsa-miR-661	CLIP-seq
MIRT2036048	hsa-miR-676	CLIP-seq
MIRT1127208	hsa-miR-765	CLIP-seq
MIRT2565549	hsa-miR-767-3p	CLIP-seq
MIRT2565550	hsa-miR-769-5p	CLIP-seq
MIRT2565531	hsa-miR-151-5p	CLIP-seq
MIRT2565532	hsa-miR-151b	CLIP-seq
MIRT2036045	hsa-miR-2355-3p	CLIP-seq
MIRT2036046	hsa-miR-3614-5p	CLIP-seq
MIRT2036047	hsa-miR-3909	CLIP-seq
MIRT2565537	hsa-miR-3920	CLIP-seq
MIRT2565540	hsa-miR-4422	CLIP-seq
MIRT2565541	hsa-miR-4640-5p	CLIP-seq
MIRT2565542	hsa-miR-4676-5p	CLIP-seq
MIRT2565543	hsa-miR-4726-5p	CLIP-seq
MIRT2565544	hsa-miR-4730	CLIP-seq
MIRT2565547	hsa-miR-575	CLIP-seq
MIRT2565548	hsa-miR-661	CLIP-seq
MIRT2036048	hsa-miR-676	CLIP-seq
MIRT1127208	hsa-miR-765	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004571	Function	Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IBA
GO:0004571	Function	Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IDA	10521544, 12090241, 22160784
GO:0004571	Function	Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IEA
GO:0004571	Function	Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IMP	18003979
GO:0004571	Function	Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	TAS	10409699, 10521544
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	TAS	10521544
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	18003979
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	10409699, 22160784
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	TAS	22160784
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0009100	Process	Glycoprotein metabolic process	IEA
GO:0009311	Process	Oligosaccharide metabolic process	TAS	10409699
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IDA	18003979
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10521544
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0019082	Process	Viral protein processing	TAS
GO:0031410	Component	Cytoplasmic vesicle	IDA	25411339
GO:0036503	Process	ERAD pathway	IBA
GO:0036503	Process	ERAD pathway	IEA
GO:0036503	Process	ERAD pathway	IEA
GO:0036503	Process	ERAD pathway	IMP	18003979, 21062743
GO:0036508	Process	Protein alpha-1,2-demannosylation	NAS	10521544
GO:0044322	Component	Endoplasmic reticulum quality control compartment	IDA	18003979
GO:0044322	Component	Endoplasmic reticulum quality control compartment	TAS	21062743
GO:0046872	Function	Metal ion binding	IEA
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:1904380	Process	Endoplasmic reticulum mannose trimming	TAS

Other IDs

• MIM: 604346
• HGNC: 6823
• e!Ensembl: ENSG00000177239

Protein

• UniProt ID: Q9UKM7
• Protein name: Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase (EC 3.2.1.113) (ER alpha-1,2-mannosidase) (ER mannosidase 1) (ERMan1) (Man9GlcNAc2-specific-processing alpha-mannosidase) (Mannosidase alpha class 1B member 1)
• Protein function: Involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation. It primarily trims a single alpha-1,2-linked mannose residue from Man(9)GlcNAc(2) to produce Man(8)GlcNAc(2), but at high enzyme concentrations, as fo
• PDB: 1FMI, 1FO2, 1FO3, 1X9D, 5KIJ, 5KK7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01532	Glyco_hydro_47	256 → 695	Glycosyl hydrolase family 47	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:10409699, ECO:0000269|PubMed:10521544}.
• Sequence:

  MAACEGRRSGALGSSQSDFLTPPVGGAPWAVATTVVMYPPPPPPPHRDFISVTLSFGENY
  DNSKSWRRRSCWRKWKQLSRLQRNMILFLLAFLLFCGLLFYINLADHWKALAFRLEEEQK
  MRPEIAGLKPANPPVLPAPQKADTDPENLPEISSQKTQRHIQRGPPHLQIRPPSQDLKDG
  TQEEATKRQEAPVDPRPEGDPQRTVISWRGAVIEPEQGTELPSRRAEVPTKPPLPPARTQ
  GTPVHLNYRQKGVIDVFLHAWKGYRKFAWGHDELKPVSRSFSEWFGLGLTLIDALDTMWI
  LGLRKEFEEARKWVSKKLHFEKDVDVNLFESTIRILGGLLSAYHLSGDSLFLRKAEDFGN
  RLMPAFRTPSKIPYSDVNIGTGVAHPPRWTSDSTVAEVTSIQLEFRELSRLTGDKKFQEA
  VEKVTQHIHGLSGKKDGLVPMFINTHSGLFTHLGVFTLGARADSYYEYLLKQWIQGGKQE
  TQLLEDYVEAIEGVRTHLLRHSEPSKLTFVGELAHGRFSAKMDHLVCFLPGTLALGVYHG
  LPASHMELAQELMETCYQMNRQMETGLSPEIVHFNLYPQPGRRDVEVKPADRHNLLRPET
  VESLFYLYRVTGDRKYQDWGWEILQSFSRFTRVPSGGYSSINNVQDPQKPEPRDKMESFF
  LGETLKYLFLLFSDDPNLLSLDAYVFNTEAHPLPIWTPA

• Sequence length: 699

Pathways

KEGG:

N-Glycan biosynthesis
Various types of N-glycan biosynthesis
Metabolic pathways
Protein processing in endoplasmic reticulum

Reactome:

Defective MAN1B1 causes MRT15
ER Quality Control Compartment (ERQC)

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
MAN1B1-congenital disorder of glycosylation	Pathogenic	rs1207589187	RCV001825012	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MAN1B1-related disorder	Pathogenic	rs753503405	RCV004735927	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rafiq syndrome	Pathogenic; Likely pathogenic	rs1831100789, rs2130986124, rs1207589187, rs2130983856, rs745337581, rs2538333097, rs2538445870, rs794729645, rs1564281463, rs797045688, rs1830815799, rs1419259096, rs2538317999, rs2538339133, rs1243024601, rs2538454150, rs1564311909, rs1164484724, rs1382373816, rs1377102705, rs753503405, rs1830422749, rs1158130828, rs1831100970, rs937318545, rs1564281411, rs747262065	RCV001332117 RCV001390554 RCV003640982 RCV002226993 RCV002463371 RCV002471986 RCV002472011 RCV000185553 RCV002839026 RCV000194566 RCV003009719 RCV003046440 RCV003328077 RCV003641243 RCV003878528 RCV003990268 RCV000023367 RCV000590861 RCV001263235 RCV000988306 RCV001263234 RCV005866817 RCV001263233 RCV001263236 RCV001263238 RCV001263240 RCV001263241	★★★★★ 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
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARBOHYDRATE DEFICIENT GLYCOPROTEIN SYNDROME TYPE 2 DUE TO DEFICIENCY OF MANNOSIDASE ALPHA CLASS 1B MEMBER 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Likely benign	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability, Recessive	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ 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
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	28887821		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30218751		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	34831340	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	34831340	Associate	★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23940818, 36635499	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23940818	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36635499	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30218751		★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	34831340	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Disorder Of Glycosylation Type In	Congenital disorder of glycosylation	Pubtator	34831340	Associate	★☆☆☆☆ Found in Text Mining only
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii	Congenital disorder of glycosylation	BEFREE	24348268, 24566669		★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	24348268, 24566669, 26401844, 29908352, 29947113		★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	24348268, 34831340, 36142510	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	21763484, 24348268, 24566669, 26279649, 26577042		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	19444872		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34831340	Associate	★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	24348268	Associate	★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XIV	Glycogen storage disease	Pubtator	30776362	Associate	★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	BEFREE	24566669, 29908352		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Liver carcinoma	Liver carcinoma	BEFREE	23940818		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30218751		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23940818		★☆☆☆☆ Found in Text Mining only
MAN1B1-CDG	Congenital Disorder Of Glycosylation	Orphanet			★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	Mental retardation	UNIPROT_DG	21763484		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	Mental retardation	GENOMICS_ENGLAND_DG	21937992, 24348268, 27604308		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	Mental retardation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24348268, 34831340	Associate	★☆☆☆☆ Found in Text Mining only
Peg-shaped teeth	Peg-Shaped Teeth	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	24348268	Associate	★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only