MAN2B1 (mannosidase alpha class 2B member 1)

Gene

• Entrez ID: 4125
• Gene name: Mannosidase alpha class 2B member 1
• Gene symbol: MAN2B1
• Synonyms (NCBI Gene): LAMAN, MANB
• Chromosome: 19
• Chromosome location: 19p13.13
• Summary: This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 o

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80338677	C>G	Pathogenic	Splice donor variant
rs80338678	T>C	Pathogenic	Splice acceptor variant
rs80338679	C>T	Pathogenic	Splice donor variant
rs80338680	G>A,C,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs80338681	A>G	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121434331	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs121434332	G>A	Pathogenic	Coding sequence variant, stop gained
rs121434333	G>C	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs141212446	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148108322	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200036864	C>T	Likely-pathogenic	Splice donor variant
rs200579436	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs369099686	A>C,G	Likely-pathogenic	Splice donor variant
rs398123455	C>T	Pathogenic	Stop gained, coding sequence variant
rs398123456	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs398123457	A>G	Likely-pathogenic, pathogenic	Splice donor variant
rs543222535	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs561991886	C>A,T	Likely-pathogenic	Splice acceptor variant
rs572289342	->C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs748712495	A>T	Likely-pathogenic	Splice donor variant
rs748872992	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs763100457	C>A	Likely-pathogenic	Splice acceptor variant
rs763257568	G>A	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs767323371	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs768734132	C>T	Likely-pathogenic	Splice donor variant
rs771953225	C>A,T	Likely-pathogenic	Splice donor variant
rs775200333	G>A,C,T	Pathogenic-likely-pathogenic, likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs779769525	G>A	Pathogenic	Coding sequence variant, stop gained
rs781291011	G>A,C,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs786204715	C>T	Likely-pathogenic	Intron variant, coding sequence variant, stop gained
rs797044680	C>-,CC	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs891030696	T>A	Likely-pathogenic	Splice acceptor variant
rs938576591	C>T	Likely-pathogenic	Splice acceptor variant
rs1008745697	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, synonymous variant
rs1057516289	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516459	TGTGGTGCGC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516524	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516745	C>A	Likely-pathogenic	Splice donor variant
rs1057516864	->G	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516897	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516927	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057517108	CCCTACC>-	Likely-pathogenic	Splice donor variant, coding sequence variant, intron variant, 5 prime UTR variant
rs1057517166	C>T	Likely-pathogenic	Splice acceptor variant
rs1057517316	AGTGA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517408	TCCGGAGCCATAGGGTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064793936	T>C	Pathogenic	Splice acceptor variant
rs1322313985	C>G,T	Likely-pathogenic	Splice donor variant
rs1406466561	G>C	Pathogenic	Coding sequence variant, stop gained
rs1445197546	T>C	Pathogenic	Splice acceptor variant
rs1555705992	GT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555706137	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555706185	C>G	Likely-pathogenic	Splice acceptor variant
rs1555706596	C>G	Likely-pathogenic	Splice acceptor variant
rs1555706706	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555706752	C>-	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1555706774	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555707087	C>A,T	Likely-pathogenic	Splice donor variant
rs1555708126	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1555708156	C>T	Likely-pathogenic	Splice acceptor variant
rs1555709533	C>G	Likely-pathogenic	Splice acceptor variant
rs1568307275	->AA	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1599337939	TGGCCACCAGCGTGGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599338484	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599344532	C>T	Pathogenic	Coding sequence variant, stop gained
rs1599349822	CGTC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1599350640	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1599352199	C>A	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028480	hsa-miR-30a-5p	Proteomics	18668040
MIRT1127348	hsa-miR-1203	CLIP-seq
MIRT1127349	hsa-miR-1587	CLIP-seq
MIRT1127350	hsa-miR-1913	CLIP-seq
MIRT1127351	hsa-miR-3150b-3p	CLIP-seq
MIRT1127352	hsa-miR-3188	CLIP-seq
MIRT1127353	hsa-miR-324-3p	CLIP-seq
MIRT1127354	hsa-miR-346	CLIP-seq
MIRT1127355	hsa-miR-3663-5p	CLIP-seq
MIRT1127356	hsa-miR-4313	CLIP-seq
MIRT1127357	hsa-miR-432	CLIP-seq
MIRT1127358	hsa-miR-4443	CLIP-seq
MIRT1127359	hsa-miR-4459	CLIP-seq
MIRT1127360	hsa-miR-4527	CLIP-seq
MIRT1127361	hsa-miR-4674	CLIP-seq
MIRT1127362	hsa-miR-4695-5p	CLIP-seq
MIRT1127363	hsa-miR-4722-5p	CLIP-seq
MIRT1127364	hsa-miR-4784	CLIP-seq
MIRT1127365	hsa-miR-635	CLIP-seq
MIRT1127366	hsa-miR-759	CLIP-seq
MIRT1127348	hsa-miR-1203	CLIP-seq
MIRT1127349	hsa-miR-1587	CLIP-seq
MIRT1127350	hsa-miR-1913	CLIP-seq
MIRT1127352	hsa-miR-3188	CLIP-seq
MIRT1127353	hsa-miR-324-3p	CLIP-seq
MIRT1127354	hsa-miR-346	CLIP-seq
MIRT1127355	hsa-miR-3663-5p	CLIP-seq
MIRT1127356	hsa-miR-4313	CLIP-seq
MIRT1127357	hsa-miR-432	CLIP-seq
MIRT1127358	hsa-miR-4443	CLIP-seq
MIRT1127359	hsa-miR-4459	CLIP-seq
MIRT1127360	hsa-miR-4527	CLIP-seq
MIRT1127361	hsa-miR-4674	CLIP-seq
MIRT1127362	hsa-miR-4695-5p	CLIP-seq
MIRT1127363	hsa-miR-4722-5p	CLIP-seq
MIRT1127365	hsa-miR-635	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004559	Function	Alpha-mannosidase activity	IBA
GO:0004559	Function	Alpha-mannosidase activity	IEA
GO:0004559	Function	Alpha-mannosidase activity	TAS	8910458
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	25645918
GO:0005654	Component	Nucleoplasm	IDA
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IEA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006013	Process	Mannose metabolic process	IEA
GO:0006013	Process	Mannose metabolic process	IEA
GO:0006517	Process	Protein deglycosylation	TAS	8910458
GO:0007611	Process	Learning or memory	IEA
GO:0009313	Process	Oligosaccharide catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0036211	Process	Protein modification process	IDA	8910458
GO:0043202	Component	Lysosomal lumen	IEA
GO:0043202	Component	Lysosomal lumen	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 609458
• HGNC: 6826
• e!Ensembl: ENSG00000104774

Protein

• UniProt ID: O00754
• Protein name: Lysosomal alpha-mannosidase (Laman) (EC 3.2.1.24) (Lysosomal acid alpha-mannosidase) (Mannosidase alpha class 2B member 1) (Mannosidase alpha-B) [Cleaved into: Lysosomal alpha-mannosidase A peptide; Lysosomal alpha-mannosidase B peptide; Lysosomal alpha-m
• Protein function: Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01074	Glyco_hydro_38N	64 → 381	Glycosyl hydrolases family 38 N-terminal domain	Domain
  PF09261	Alpha-mann_mid	386 → 483	Alpha mannosidase middle domain	Domain
  PF07748	Glyco_hydro_38C	607 → 823	Glycosyl hydrolases family 38 C-terminal domain	Domain
  PF17677	Glyco_hydro38C2	899 → 1001	Glycosyl hydrolases family 38 C-terminal beta sandwich domain	Domain

• Sequence:

  MGAYARASGVCARGCLDSAGPWTMSRALRPPLPPLCFFLLLLAAAGARAGGYETCPTVQP
  NMLNVHLLPHTHDDVGWLKTVDQYFYGIKNDIQHAGVQYILDSVISALLADPTRRFIYVE
  IAFFSRWWHQQTNATQEVVRDLVRQGRLEFANGGWVMNDEAATHYGAIVDQMTLGLRFLE
  DTFGNDGRPRVAWHIDPFGHSREQASLFAQMGFDGFFFGRLDYQDKWVRMQKLEMEQVWR
  ASTSLKPPTADLFTGVLPNGYNPPRNLCWDVLCVDQPLVEDPRSPEYNAKELVDYFLNVA
  TAQGRYYRTNHTVMTMGSDFQYENANMWFKNLDKLIRLVNAQQAKGSSVHVLYSTPACYL
  WELNKANLTWSVKHDDFFPYADGPHQFWTGYFSSRPALKRYERLSYNFLQVCNQLEALVG
  LAANVGPYGSGDSAPLNEAMAVLQHHDAVSGTSRQHVANDYARQLAAGWGPCEVLLSNAL
  ARLRGFKDHFTFCQQLNISICPLSQTAARFQVIVYNPLGRKVNWMVRLPVSEGVFVVKDP
  NGRTVPSDVVIFPSSDSQAHPPELLFSASLPALGFSTYSVAQVPRWKPQARAPQPIPRRS
  WSPALTIENEHIRATFDPDTGLLMEIMNMNQQLLLPVRQTFFWYNASIGDNESDQASGAY
  IFRPNQQKPLPVSRWAQIHLVKTPLVQEVHQNFSAWCSQVVRLYPGQRHLELEWSVGPIP
  VGDTWGKEVISRFDTPLETKGRFYTDSNGREILERRRDYRPTWKLNQTEPVAGNYYPVNT
  RIYITDGNMQLTVLTDRSQGGSSLRDGSLELMVHRRLLKDDGRGVSEPLMENGSGAWVRG
  RHLVLLDTAQAAAAGHRLLAEQEVLAPQVVLAPGGGAAYNLGAPPRTQFSGLRRDLPPSV
  HLLTLASWGPEMVLLRLEHQFAVGEDSGRNLSAPVTLNLRDLFSTFTITRLQETTLVANQ
  LREAASRLKWTTNTGPTPHQTPYQLDPANITLEPMEIRTFLASVQWKEVDG

• Sequence length: 1011

Pathways

KEGG:

Other glycan degradation
Lysosome

Reactome:

Neutrophil degranulation
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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Craniosynostosis syndrome	Pathogenic	rs2145290706	RCV001376179	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deficiency of alpha-mannosidase	Pathogenic; Likely pathogenic	rs2024019978, rs2023783146, rs2145221516, rs2145225250, rs1347035611, rs1392422167, rs2145256864, rs2145261994, rs2145262260, rs2145287284, rs1160557969, rs2145289566, rs1735642901, rs2024251717, rs2145294424, rs1291147781, rs561991886, rs2145290458, rs369099686, rs1022927322, rs2145250113, rs574202419, rs2145224416, rs2145254041, rs2145225759, rs2145250103, rs2145256406, rs2145225515, rs2145286437, rs753695099, rs80338680, rs778554304, rs2145290929, rs2145254277, rs2145294443, rs752229880, rs770297337, rs774791244, rs2145254657, rs2145272932, rs2145290731, rs778131120, rs2145294851, rs767768982, rs2024217430, rs2145290586, rs2145232776, rs2145290975, rs2145290970, rs387906261, rs121434331, rs121434332, rs764376758, rs2512486581, rs2512514374, rs2512512259, rs2512497630, rs2512517592, rs2023743942, rs2512500131, rs2024015975, rs2512512548, rs2512499121, rs2512486342, rs2512497499, rs2512492615, rs2512493071, rs2512503761, rs2512511233, rs2512492585, rs2512486420, rs2512486743, rs2512515046, rs2512501621, rs2512503750, rs2512486844, rs2512489649, rs2512508095, rs2512488396, rs2512486436, rs2512514346, rs2512497496, rs2512516189, rs775200333, rs786204715, rs797044680, rs200048536, rs1234850408, rs370760999, rs864621991, rs758765126, rs864621994, rs398123456, rs864621993, rs864621986, rs864621984, rs368899357, rs864621992, rs864621980, rs746808159, rs763257568, rs864621978, rs772108001, rs864621977, rs746702002, rs864621975, rs2512504273, rs2512516231, rs2512512467, rs1599352199, rs2512488379, rs2512492578, rs1445498020, rs2512517362, rs2512514781, rs2512489979, rs2512511146, rs2512516429, rs750179985, rs2512503737, rs752784885, rs2512500150, rs772562587, rs2512483255, rs2512503484, rs2512503237, rs2512489951, rs377752596, rs1238492400, rs746868162, rs2512512484, rs2512514523, rs2512487741, rs2023856348, rs2512520038, rs1337215414, rs2512484262, rs2512503699, rs2512492579, rs2512503839, rs754014741, rs2512484818, rs1322313985, rs2512486479, rs1568300632, rs2512489604, rs2512488438, rs2512497760, rs2512515058, rs2512484545, rs2512484336, rs752987724, rs1447244591, rs2512514455, rs2512486704, rs2512499210, rs2512514945, rs1445197546, rs2512488403, rs2512500073, rs2512515060, rs2024217585, rs2512512433, rs2145253412, rs2512503118, rs2512489970, rs2512485224, rs2512503786, rs2023968144, rs2512519985, rs2023994157, rs2512519922, rs2512486445, rs2512484944, rs2512512595, rs2512514928, rs2512486513, rs2512503667, rs2512516719, rs886054230, rs2512508206, rs2512512354, rs2512512428, rs2512511406, rs2512514593, rs1555709533, rs1316039692, rs2512514528, rs2512504203, rs2512501525, rs2512488466, rs2512500070, rs2512486639, rs2512517709, rs80338677, rs80338678, rs80338679, rs80338681, rs370803545, rs1057516897, rs1057516864, rs767323371, rs771953225, rs1057517166, rs1057516289, rs1057516459, rs1057516927, rs1057517316, rs1057516745, rs1057517408, rs1057516524, rs1057517108, rs1057516682, rs778399351, rs1057516325, rs1057516501, rs1057516972, rs1057516810, rs1064793936, rs1555709972, rs1555706706, rs763100457, rs1406466561, rs1555706596, rs1555706752, rs768734132, rs200036864, rs1008745697, rs1555707087, rs748872992, rs1555708126, rs1555705992, rs1555706185, rs1555706774, rs748712495, rs1555710070, rs1555710254, rs779769525, rs779241409, rs891030696, rs1555708156, rs938576591, rs781291011, rs1429239930, rs1599344532, rs1599350640, rs1599337939, rs1599338484, rs1599349822, rs2023782686, rs999923581, rs2023854692, rs756680048, rs771647137, rs2024028589, rs2024205685, rs1366682636, rs2023710111, rs2023745479, rs2023968643, rs2024020274, rs2024151949, rs2024192356, rs2024217737, rs2024027294, rs757072948, rs2024014272, rs1218254964, rs2024208039, rs2024155693, rs2023718817, rs139366493, rs368224056, rs2023804275, rs2023809176, rs2023809731, rs2023851530, rs2023852354, rs2023853280, rs1224319934, rs2023939487, rs755508725, rs2023979174, rs2023994563, rs2023996617, rs774034389, rs1329771201, rs771479314, rs2024210372, rs376719984, rs398123455, rs398123457	RCV001329966 RCV001377753 RCV001387084 RCV001382124 RCV001386792 RCV001383468 RCV001384507 RCV001389584 RCV001386235 RCV001387352 RCV001389021 RCV001381974 RCV001382555 RCV001385075 RCV001381300 RCV001506971 RCV001783631 RCV001783632 RCV001844512 RCV001977875 RCV001928534 RCV001991025 RCV001893850 RCV001930464 RCV001960467 RCV001953143 RCV001992011 RCV001940518 RCV001953714 RCV001953799 RCV001999253 RCV001929997 RCV001914417 RCV001962079 RCV001909768 RCV002035767 RCV001939631 RCV001872910 RCV002032939 RCV001877569 RCV001901344 RCV001898925 RCV001956279 RCV001880849 RCV001947965 RCV002042128 RCV001980393 RCV001907827 RCV002221412 RCV000001752 RCV000001753 RCV000001754 RCV000001755 RCV002281757 RCV002288422 RCV002289294 RCV002306658 RCV002306757 RCV002309571 RCV002309808 RCV002307990 RCV002308055 RCV002308176 RCV002308254 RCV002309098 RCV002309328 RCV002309337 RCV002309361 RCV002309488 RCV002306893 RCV002306944 RCV002306945 RCV002307009 RCV002307055 RCV002307072 RCV002307171 RCV002307224 RCV002307233 RCV002307259 RCV002307308 RCV002310195 RCV002310221 RCV002308397 RCV002308445 RCV000169471 RCV000169531 RCV000176041 RCV002638148 RCV003112403 RCV002740239 RCV000206935 RCV000206938 RCV000206924 RCV000206964 RCV000206950 RCV000206991 RCV000206989 RCV000206900 RCV000206997 RCV000206932 RCV000206987 RCV000206936 RCV000206976 RCV000206941 RCV000207004 RCV000206959 RCV000206911 RCV002775018 RCV002825067 RCV002816648 RCV002862041 RCV002816369 RCV002847716 RCV002928475 RCV002938119 RCV002923457 RCV002972045 RCV003007872 RCV003028154 RCV003016297 RCV003019838 RCV003030624 RCV003035715 RCV003050440 RCV003052100 RCV003110182 RCV000301281 RCV003470035 RCV003470036 RCV003461823 RCV003470037 RCV003470038 RCV003461824 RCV003470039 RCV003470040 RCV003470041 RCV003470042 RCV003470043 RCV003470044 RCV003470045 RCV003470046 RCV003461825 RCV003470047 RCV003461826 RCV003470048 RCV003461827 RCV003470052 RCV003470053 RCV003461828 RCV003498788 RCV003498836 RCV003499104 RCV003499609 RCV003497484 RCV003497349 RCV003498593 RCV003498383 RCV003499492 RCV003499451 RCV003600718 RCV003600832 RCV003601381 RCV003600782 RCV003601504 RCV003601596 RCV003601597 RCV003601464 RCV003601571 RCV003601659 RCV003601796 RCV003601638 RCV003602201 RCV003602102 RCV003602128 RCV003602181 RCV003602415 RCV003602340 RCV003600019 RCV003600068 RCV003599960 RCV003599920 RCV003600207 RCV003601009 RCV003601299 RCV000387844 RCV004576146 RCV004576859 RCV004576860 RCV004576861 RCV004576862 RCV004576863 RCV004576864 RCV004576865 RCV004576866 RCV004576867 RCV004576868 RCV004576869 RCV004574820 RCV004574821 RCV004574822 RCV000020364 RCV000020365 RCV000020366 RCV000020367 RCV000384198 RCV000412417 RCV000409219 RCV000411220 RCV000411824 RCV000410754 RCV000410846 RCV000409995 RCV000409235 RCV000411831 RCV000410001 RCV000412292 RCV000411548 RCV000409662 RCV000409213 RCV000412446 RCV000412409 RCV000410290 RCV000409222 RCV000409925 RCV000410677 RCV001251160 RCV001775912 RCV001775927 RCV000668849 RCV000668093 RCV000672429 RCV000669911 RCV000671546 RCV000672697 RCV000669668 RCV000673482 RCV000674325 RCV000667065 RCV000670394 RCV000666098 RCV000666750 RCV000671698 RCV000669418 RCV000669117 RCV000674992 RCV000669543 RCV000667733 RCV000666122 RCV000674777 RCV000674925 RCV000674115 RCV000668825 RCV000677673 RCV000761476 RCV000779250 RCV000781513 RCV000815618 RCV000819042 RCV000824138 RCV000804900 RCV000824891 RCV001003077 RCV001004411 RCV001062875 RCV001052695 RCV001055647 RCV001038590 RCV001052217 RCV001055103 RCV001047909 RCV001038214 RCV001217756 RCV001215794 RCV001219507 RCV001222726 RCV001224166 RCV001204515 RCV001209865 RCV001212173 RCV001236147 RCV001232309 RCV001250248 RCV001251285 RCV001252564 RCV001255537 RCV001263958 RCV001263959 RCV001263960 RCV001263961 RCV001264121 RCV001264122 RCV001264123 RCV001264124 RCV001264125 RCV001264126 RCV001264127 RCV001264247 RCV001264248 RCV001264249 RCV001264250 RCV001264251 RCV001264252 RCV001264253 RCV001264254 RCV001263679 RCV001776167 RCV001390130 RCV001775569 RCV000410282	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs1008745697	RCV005901472	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs2145290706, rs1057517408	RCV001376179 RCV001374658	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MAN2B1-related disorder	Likely pathogenic; Pathogenic	rs763257568, rs80338681, rs1057516864, rs748712495	RCV004755802 RCV004755744 RCV003401389 RCV004756005	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic	rs768734132	RCV005901494	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	Pathogenic	rs1568307275	RCV000721970	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs80338677	RCV005887592	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs2023856348	RCV005927715	★★★★☆ 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
ALPHA-MANNOSIDOSIS	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ 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
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	19743435, 26354342		★☆☆☆☆ Found in Text Mining only
alpha-Mannosidosis	Alpha-Mannosidosis	BEFREE	10400983, 15269179, 16766199, 16919251, 19743435, 26048034, 27814608, 31017416, 31198684, 318154, 9158146, 9396732, 9758606		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
alpha-Mannosidosis	Alpha-Mannosidosis	CLINVAR_DG	11959458, 12634058, 1472354, 15035660, 15712269, 17979865, 19958498, 20165920, 21505070, 22161967, 23613340, 25762455, 26048034, 9758606, 9915946		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
alpha-Mannosidosis	Alpha-Mannosidosis	UNIPROT_DG	12718372, 15712269, 22161967, 9158146, 9758606, 9915946		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
alpha-Mannosidosis	Alpha-Mannosidosis	GENOMICS_ENGLAND_DG	27604308, 9758606, 9915946		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
alpha-Mannosidosis	Alpha-Mannosidosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alpha-mannosidosis, adult form	Alpha-Mannosidosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Alpha-mannosidosis, infantile form	Alpha-Mannosidosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34614013	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
Developmental Disabilities	Developmental disability	Pubtator	17979865	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	12816222, 18651971, 22161967, 26048034, 7307317, 9758606		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35185876	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	19743435, 26354342		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	17979865	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	17979865	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	CTD_human_DG	25133636		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	38382588	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Language Development Disorders	Language development disorders	Pubtator	38382588	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	39290707	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	12816222, 18651971, 22161967, 26048034, 7307317, 9758606		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	39290707	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	12816222, 18651971, 22161967, 26048034, 7307317, 9758606		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	9758606	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34250953, 35732154	Associate	★☆☆☆☆ Found in Text Mining only
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar tract disease in lower limbs	Spinocerebellar tract disease in lower limbs	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondylolisthesis	Spondylolisthesis	HPO_DG			★☆☆☆☆ Found in Text Mining only