MANBA (mannosidase beta)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 4126
• Gene name: Mannosidase beta
• Gene symbol: MANBA
• Synonyms (NCBI Gene): MANB1
• Chromosome: 4
• Chromosome location: 4q24
• Summary: This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated wi

SNPs Show/Hide all (15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434334	A>G	Pathogenic	Missense variant, coding sequence variant
rs121434335	C>A,G,T	Pathogenic	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant, 5 prime UTR variant
rs121434336	G>A,C	Pathogenic	Coding sequence variant, upstream transcript variant, stop gained, missense variant, genic upstream transcript variant
rs374545788	C>A	Likely-pathogenic	Splice acceptor variant
rs752343321	->TCCCAACTAA	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, intron variant, inframe insertion
rs763849774	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs764364492	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs771587242	T>C	Pathogenic	5 prime UTR variant, coding sequence variant, synonymous variant, genic upstream transcript variant
rs771865668	C>T	Pathogenic	Coding sequence variant, stop gained
rs772852668	T>C	Pathogenic	Splice acceptor variant
rs775574131	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs890870104	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1188116333	TA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553945794	C>T	Likely-pathogenic	Upstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs1553948361	G>C	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant

miRNA Show/Hide all (43)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017002	hsa-miR-335-5p	Microarray	18185580
MIRT1127428	hsa-miR-1224-5p	CLIP-seq
MIRT1127429	hsa-miR-1304	CLIP-seq
MIRT1127430	hsa-miR-3915	CLIP-seq
MIRT1127431	hsa-miR-4317	CLIP-seq
MIRT1127432	hsa-miR-4438	CLIP-seq
MIRT1127433	hsa-miR-4689	CLIP-seq
MIRT1127434	hsa-miR-4751	CLIP-seq
MIRT2565750	hsa-miR-1205	CLIP-seq
MIRT2565751	hsa-miR-1206	CLIP-seq
MIRT2565752	hsa-miR-1909	CLIP-seq
MIRT2565753	hsa-miR-23a	CLIP-seq
MIRT2565754	hsa-miR-23b	CLIP-seq
MIRT2565755	hsa-miR-23c	CLIP-seq
MIRT2565756	hsa-miR-3179	CLIP-seq
MIRT2565757	hsa-miR-320a	CLIP-seq
MIRT2565758	hsa-miR-320b	CLIP-seq
MIRT2565759	hsa-miR-320c	CLIP-seq
MIRT2565760	hsa-miR-320d	CLIP-seq
MIRT2565761	hsa-miR-370	CLIP-seq
MIRT2565762	hsa-miR-3918	CLIP-seq
MIRT2565763	hsa-miR-4429	CLIP-seq
MIRT2565764	hsa-miR-4529-5p	CLIP-seq
MIRT2565765	hsa-miR-578	CLIP-seq
MIRT2565766	hsa-miR-582-3p	CLIP-seq
MIRT2565767	hsa-miR-643	CLIP-seq
MIRT2565750	hsa-miR-1205	CLIP-seq
MIRT2565751	hsa-miR-1206	CLIP-seq
MIRT2565752	hsa-miR-1909	CLIP-seq
MIRT2565753	hsa-miR-23a	CLIP-seq
MIRT2565754	hsa-miR-23b	CLIP-seq
MIRT2565755	hsa-miR-23c	CLIP-seq
MIRT2565757	hsa-miR-320a	CLIP-seq
MIRT2565758	hsa-miR-320b	CLIP-seq
MIRT2565759	hsa-miR-320c	CLIP-seq
MIRT2565760	hsa-miR-320d	CLIP-seq
MIRT2565761	hsa-miR-370	CLIP-seq
MIRT2565762	hsa-miR-3918	CLIP-seq
MIRT2565763	hsa-miR-4429	CLIP-seq
MIRT2565764	hsa-miR-4529-5p	CLIP-seq
MIRT2565765	hsa-miR-578	CLIP-seq
MIRT2565766	hsa-miR-582-3p	CLIP-seq
MIRT2565767	hsa-miR-643	CLIP-seq

Gene ontology (GO) Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0004567	Function	Beta-mannosidase activity	IBA
GO:0004567	Function	Beta-mannosidase activity	IDA	30552791
GO:0004567	Function	Beta-mannosidase activity	IEA
GO:0004567	Function	Beta-mannosidase activity	TAS
GO:0005764	Component	Lysosome	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006516	Process	Glycoprotein catabolic process	IBA
GO:0006516	Process	Glycoprotein catabolic process	ISS
GO:0009313	Process	Oligosaccharide catabolic process	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0035577	Component	Azurophil granule membrane	TAS
GO:0036211	Process	Protein modification process	NAS	9384606
GO:0043202	Component	Lysosomal lumen	TAS

Other IDs

• MIM: 609489
• HGNC: 6831
• e!Ensembl: ENSG00000109323

Protein

• UniProt ID: O00462
• Protein name: Beta-mannosidase (EC 3.2.1.25) (Lysosomal beta A mannosidase) (Mannanase) (Mannase)
• Protein function: Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02836	Glyco_hydro_2_C	340 → 574	Glycosyl hydrolases family 2, TIM barrel domain	Domain
  PF17753	Ig_mannosidase	799 → 878	Ig-fold domain	Domain
  PF17786	Mannosidase_ig	700 → 795	Mannosidase Ig/CBM-like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Detected in pancreas, kidney and placenta, ands at lower levels in liver, lung, brain, heart and muscle. {ECO:0000269|PubMed:9384606}.
• Sequence:

  MRLHLLLLLALCGAGTTAAELSYSLRGNWSICNGNGSLELPGAVPGCVHSALFQQGLIQD
  SYYRFNDLNYRWVSLDNWTYSKEFKIPFEISKWQKVNLILEGVDTVSKILFNEVTIGETD
  NMFNRYSFDITNVVRDVNSIELRFQSAVLYAAQQSKAHTRYQVPPDCPPLVQKGECHVNF
  VRKEQCSFSWDWGPSFPTQGIWKDVRIEAYNICHLNYFTFSPIYDKSAQEWNLEIESTFD
  VVSSKPVGGQVIVAIPKLQTQQTYSIELQPGKRIVELFVNISKNITVETWWPHGHGNQTG
  YNMTVLFELDGGLNIEKSAKVYFRTVELIEEPIKGSPGLSFYFKINGFPIFLKGSNWIPA
  DSFQDRVTSELLRLLLQSVVDANMNTLRVWGGGIYEQDEFYELCDELGIMVWQDFMFACA
  LYPTDQGFLDSVTAEVAYQIKRLKSHPSIIIWSGNNENEEALMMNWYHISFTDRPIYIKD
  YVTLYVKNIRELVLAGDKSRPFITSSPTNGAETVAEAWVSQNPNSNYFGDVHFYDYISDC
  WNWKVFPKARFASEYGYQSWPSFSTLEKVSSTEDWSFNSKFSLHRQHHEGGNKQMLYQAG
  LHFKLPQSTDPLRTFKDTIYLTQVMQAQCVKTETEFYRRSRSEIVDQQGHTMGALYWQLN
  DIWQAPSWASLEYGGKWKMLHYFAQNFFAPLLPVGFENENTFYIYGVSDLHSDYSMTLSV
  RVHTWSSLEPVCSRVTERFVMKGGEAVCLYEEPVSELLRRCGNCTRESCVVSFYLSADHE
  LLSPTNYHFLSSPKEAVGLCKAQITAIISQQGDIFVFDLETSAVAPFVWLDVGSIPGRFS
  DNGFLMTEKTRTILFYPWEPTSKNELEQSFHVTSLTDIY

• Sequence length: 879

Pathways

KEGG Pathway	Reactome Pathway
Other glycan degradation	Neutrophil degranulation
Lysosome	Lysosomal oligosaccharide catabolism

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 Show/Hide Causal Diseases (6)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Beta-D-mannosidosis	Likely pathogenic; Pathogenic	rs779221957, rs1334537145, rs374377679, rs1411236177, rs776601022, rs1035305358, rs1309076303, rs760404534, rs371368353, rs890870104, rs752343321, rs1730296951, rs121434334, rs771587242, rs121434335, rs121434336, rs1188116333, rs771465504, rs759449765, rs1198947705, rs2477036536, rs370801398, rs2476782303, rs2476782313, rs2476765770, rs1730640591, rs2476721458, rs2476758160, rs2476909407, rs1732439983, rs2476919187, rs1266964950, rs2476757946, rs2476774517, rs2476721403, rs145931742, rs1560752842, rs2476918631, rs1731366707, rs781133275, rs2528106112, rs2476807665, rs2476805306, rs2476807378, rs2476786433, rs2476908784, rs1160665082, rs2476721955, rs200384040, rs2476765995, rs2476807656, rs866558712, rs1729554501, rs1270359418, rs2476721748, rs777415626, rs2476774466, rs2476807479, rs774701514, rs2476904924, rs2476717919, rs769079323, rs1404226085, rs780068572, rs767086387, rs2476779375, rs767174204, rs2476774436, rs1267827826, rs1054688954, rs1312379571, rs1249251683, rs903990993, rs1164262919, rs1437481110, rs2476875909, rs2476735985, rs1553945794, rs374545788, rs775574131, rs1341763493, rs764364492, rs1553948361, rs142029636, rs772852668, rs771865668, rs763849774, rs760992372, rs1208178394	RCV001330145 RCV001726523 RCV001782416 RCV003864319 RCV001924819 RCV001870727 RCV001953560 RCV002029701 RCV001915943 RCV000001744 RCV000001745 RCV000001746 RCV000001747 RCV000001748 RCV000001749 RCV000001750 RCV000001751 RCV003497945 RCV002281766 RCV002308599 RCV003060535 RCV002592144 RCV002725655 RCV002741680 RCV002928622 RCV002966964 RCV003013894 RCV003031920 RCV003226772 RCV003387494 RCV005036775 RCV003498005 RCV003498822 RCV003498838 RCV003498962 RCV003499529 RCV003499728 RCV003499248 RCV003499250 RCV003499705 RCV003497742 RCV003497457 RCV003497621 RCV003497785 RCV003498613 RCV003600647 RCV003600649 RCV003600700 RCV003601553 RCV003602259 RCV003602288 RCV003602185 RCV003602123 RCV003602175 RCV003602419 RCV003602370 RCV003602501 RCV003602390 RCV003600094 RCV003599979 RCV003600012 RCV003600149 RCV003600894 RCV003601035 RCV003600978 RCV003601114 RCV003601155 RCV003601099 RCV003601309 RCV003601951 RCV003816126 RCV003865407 RCV003856341 RCV003866662 RCV003874596 RCV004527514 RCV004566400 RCV001375175 RCV000691116 RCV000652551 RCV000652550 RCV001861694 RCV002531373 RCV000709926 RCV000754553 RCV001356140 RCV000780390 RCV005056874 RCV001194223	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer	Pathogenic	rs772852668	RCV005901867	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Pathogenic	rs772852668	RCV001261779	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic	rs767086387	RCV005934778	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MANBA-related disorder	Likely pathogenic; Pathogenic	rs2476919187, rs1266964950, rs771865668	RCV003404307 RCV003429116 RCV003404479 RCV003392564	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1334537145	RCV005912569	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (35)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	29083406, 31619474	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	36653681	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	31619474, 33686288, 35764056, 38036780	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	35764056, 38036780	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA-MANNOSIDOSIS	—	CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet	1623631, 16401745, 1499588, 12890191, 2079835, 3762648, 18980795	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	21399635, 26394269, 30643196, 34033851	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	33686288	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meniere disease	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MIGRAINE DISORDER	—	GWAS catalog	36808568	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	21833088, 24076602	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	33686288	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	21399635, 22961000, 26394269, 30643196, 34033851	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	25854761	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	26051272	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	27992413	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	36750564	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (38)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Angiokeratoma	Angiokeratoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	31619474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	37581400	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	37967346	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	35052433	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	35306338	Inhibit	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	31619474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	37907504	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
beta-Mannosidosis	Beta-Mannosidosis	BEFREE	10594236, 11892998, 12890191, 17420068, 18565776, 1861455, 18980795, 19728872, 3128685, 9384606		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
beta-Mannosidosis	Beta-Mannosidosis	CLINVAR_DG	12468273, 17420068, 18565776, 19728872, 22369051, 30872814, 9384606		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
beta-Mannosidosis	Beta-Mannosidosis	UNIPROT_DG	12890191, 16904924, 18565776, 30552791, 9384606		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
beta-Mannosidosis	Beta-Mannosidosis	GENOMICS_ENGLAND_DG	1623631, 18980795, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beta-mannosidosis	Beta-Mannosidosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
beta-Mannosidosis	Beta-Mannosidosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	36828809	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	27992413		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28575649		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17899454		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	32847582	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	12890191		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	30872814, 32847582	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30872814, 32847582	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukoencephalopathy	Leukoencephalopathy	BEFREE	19728872		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	30528300	Associate	★☆☆☆☆ Found in Text Mining only
Lysosomal beta-mannosidase deficiency	Lysosomal Beta-Mannosidase Deficiency	ORPHANET_DG	18980795		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	21833088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	21833088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	23739915	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	BEFREE	19728872		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	25741867, 30552791		★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	25741867	Associate	★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	21399635, 22961000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	GWASCAT_DG	26394269		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	GWASCAT_DG	26051272		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	Pubtator	26051272	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	1861456		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

MAN2B1 3 shared pathwaysOther glycan degradation, Lysosome, Lysosomal oligosaccharide catabolism Related via 3 shared pathways including Other glycan degradation, Lysosome. RPS6KA4 3 shared diseasesBiliary cirrhosis, Biliary cholangitis, Sclerosing cholangitis 3 shared evidence sourcesGWAS catalog (Biliary cirrhosis), GWAS catalog (Biliary cholangitis), GWAS catalog (Sclerosing cholangitis) Related via 3 shared diseases including Biliary cirrhosis, Biliary cholangitis — evidence mostly GWAS catalog. PRKCB 4 shared diseasesBiliary cirrhosis, Obsessive-compulsive disorder, Biliary cholangitis, Sclerosing cholangitis 4 shared evidence sourcesGWAS catalog (Biliary cirrhosis), GWAS catalog (Obsessive-compulsive disorder), GWAS catalog (Biliary cholangitis), GWAS catalog (Sclerosing cholangitis) Related via 4 shared diseases including Biliary cirrhosis, Obsessive-compulsive disorder — evidence mostly GWAS catalog. CCDC88B 4 shared diseasesBiliary cirrhosis, Biliary cholangitis, Sarcoidosis, Sclerosing cholangitis 4 shared evidence sourcesGWAS catalog (Biliary cirrhosis), GWAS catalog (Biliary cholangitis), GWAS catalog (Sarcoidosis), GWAS catalog (Sclerosing cholangitis) Related via 4 shared diseases including Biliary cirrhosis, Biliary cholangitis — evidence mostly GWAS catalog. DLEU7 3 shared diseasesBiliary cirrhosis, Diabetes mellitus, Biliary cholangitis 3 shared evidence sourcesGWAS catalog (Biliary cirrhosis), GWAS catalog (Diabetes mellitus), GWAS catalog (Biliary cholangitis) Related via 3 shared diseases including Biliary cirrhosis, Diabetes mellitus — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
MAN2B1	0	[]	3	["Other glycan degradation","Lysosome","Lysosomal oligosaccharide catabolism"]	0	[]
RPS6KA4	3	["Biliary cirrhosis","Biliary cholangitis","Sclerosing cholangitis"]	0	[]	3	["GWAS catalog (Biliary cirrhosis)","GWAS catalog (Biliary cholangitis)","GWAS catalog (Sclerosing cholangitis)"]
PRKCB	4	["Biliary cirrhosis","Obsessive-compulsive disorder","Biliary cholangitis","Sclerosing cholangitis"]	0	[]	4	["GWAS catalog (Biliary cirrhosis)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Biliary cholangitis)","GWAS catalog (Sclerosing cholangitis)"]
CCDC88B	4	["Biliary cirrhosis","Biliary cholangitis","Sarcoidosis","Sclerosing cholangitis"]	0	[]	4	["GWAS catalog (Biliary cirrhosis)","GWAS catalog (Biliary cholangitis)","GWAS catalog (Sarcoidosis)","GWAS catalog (Sclerosing cholangitis)"]
DLEU7	3	["Biliary cirrhosis","Diabetes mellitus","Biliary cholangitis"]	0	[]	3	["GWAS catalog (Biliary cirrhosis)","GWAS catalog (Diabetes mellitus)","GWAS catalog (Biliary cholangitis)"]

Diseases Linked via Similar Genes

Crohn disease Linked via 3 of 5 related genesRPS6KA4, PRKCB, CCDC88B Inflammatory bowel disease Linked via 3 of 5 related genesRPS6KA4, PRKCB, CCDC88B Ulcerative colitis Linked via 3 of 5 related genesRPS6KA4, PRKCB, CCDC88B Uterine fibroid Linked via 3 of 5 related genesRPS6KA4, CCDC88B, DLEU7 Iga nephropathy Linked via 2 of 5 related genesMAN2B1, CCDC88B

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Crohn disease	3	["RPS6KA4","PRKCB","CCDC88B"]
Inflammatory bowel disease	3	["RPS6KA4","PRKCB","CCDC88B"]
Ulcerative colitis	3	["RPS6KA4","PRKCB","CCDC88B"]
Uterine fibroid	3	["RPS6KA4","CCDC88B","DLEU7"]
Iga nephropathy	2	["MAN2B1","CCDC88B"]