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	5648
Gene name	MBL associated serine protease 1
Gene symbol	MASP1
Synonyms (NCBI Gene)	3MC1CRARFCRARF1MAP-1MAP1MASPMASP-3MASP3MAp44PRSS5RaRF
Chromosome	3
Chromosome location	3q27.3
Summary	This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen an

Show/Hide all (15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34207306	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs139497497	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, non coding transcript variant, coding sequence variant, synonymous variant, genic downstream transcript variant
rs141985299	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, genic downstream transcript variant
rs377074720	G>A	Likely-pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, non coding transcript variant, stop gained
rs387906752	G>A	Pathogenic	Genic downstream transcript variant, intron variant, missense variant, coding sequence variant, non coding transcript variant
rs387906753	A>G	Pathogenic	Genic downstream transcript variant, intron variant, missense variant, coding sequence variant, non coding transcript variant
rs387906754	C>T	Pathogenic	Genic downstream transcript variant, intron variant, missense variant, coding sequence variant, non coding transcript variant
rs533236263	C>G,T	Pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs549330397	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, intron variant, stop gained
rs748494624	G>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs763360042	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1553779765	T>A	Pathogenic	Splice acceptor variant
rs1553852691	->C	Likely-pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs1560255926	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1579537069	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

197

Show/Hide all (197)

miRTarBase ID	miRNA	Experiments	Reference
MIRT054870	hsa-miR-125a-5p	qRT-PCR	24675842
MIRT1132968	hsa-miR-103a	CLIP-seq
MIRT1132969	hsa-miR-107	CLIP-seq
MIRT1132970	hsa-miR-1252	CLIP-seq
MIRT1132971	hsa-miR-1260	CLIP-seq
MIRT1132972	hsa-miR-1260b	CLIP-seq
MIRT1132973	hsa-miR-1304	CLIP-seq
MIRT1132974	hsa-miR-15a	CLIP-seq
MIRT1132975	hsa-miR-15b	CLIP-seq
MIRT1132976	hsa-miR-16	CLIP-seq
MIRT1132977	hsa-miR-188-3p	CLIP-seq
MIRT1132978	hsa-miR-195	CLIP-seq
MIRT1132979	hsa-miR-196a	CLIP-seq
MIRT1132980	hsa-miR-196b	CLIP-seq
MIRT1132981	hsa-miR-2113	CLIP-seq
MIRT1132982	hsa-miR-3156-3p	CLIP-seq
MIRT1132983	hsa-miR-3187-3p	CLIP-seq
MIRT1132984	hsa-miR-3190	CLIP-seq
MIRT1132985	hsa-miR-3927	CLIP-seq
MIRT1132986	hsa-miR-424	CLIP-seq
MIRT1132987	hsa-miR-4267	CLIP-seq
MIRT1132988	hsa-miR-4283	CLIP-seq
MIRT1132989	hsa-miR-4310	CLIP-seq
MIRT1132990	hsa-miR-4311	CLIP-seq
MIRT1132991	hsa-miR-4428	CLIP-seq
MIRT1132992	hsa-miR-4433	CLIP-seq
MIRT1132993	hsa-miR-4435	CLIP-seq
MIRT1132994	hsa-miR-4459	CLIP-seq
MIRT1132995	hsa-miR-4476	CLIP-seq
MIRT1132996	hsa-miR-4489	CLIP-seq
MIRT1132997	hsa-miR-4533	CLIP-seq
MIRT1132998	hsa-miR-4693-3p	CLIP-seq
MIRT1132999	hsa-miR-4699-5p	CLIP-seq
MIRT1133000	hsa-miR-4701-5p	CLIP-seq
MIRT1133001	hsa-miR-4768-3p	CLIP-seq
MIRT1133002	hsa-miR-497	CLIP-seq
MIRT1133003	hsa-miR-539	CLIP-seq
MIRT1133004	hsa-miR-548s	CLIP-seq
MIRT1133005	hsa-miR-588	CLIP-seq
MIRT1133006	hsa-miR-604	CLIP-seq
MIRT1133007	hsa-miR-647	CLIP-seq
MIRT1133008	hsa-miR-661	CLIP-seq
MIRT1133009	hsa-miR-671-5p	CLIP-seq
MIRT1133010	hsa-miR-889	CLIP-seq
MIRT1133011	hsa-miR-1266	CLIP-seq
MIRT1133012	hsa-miR-1827	CLIP-seq
MIRT1133013	hsa-miR-3612	CLIP-seq
MIRT1133014	hsa-miR-4518	CLIP-seq
MIRT1133015	hsa-miR-650	CLIP-seq
MIRT1133016	hsa-miR-940	CLIP-seq
MIRT2037934	hsa-miR-3145-3p	CLIP-seq
MIRT2037935	hsa-miR-3918	CLIP-seq
MIRT1132990	hsa-miR-4311	CLIP-seq
MIRT2037936	hsa-miR-4685-5p	CLIP-seq
MIRT2037937	hsa-miR-489	CLIP-seq
MIRT2037938	hsa-miR-494	CLIP-seq
MIRT2267925	hsa-let-7a	CLIP-seq
MIRT2267926	hsa-let-7b	CLIP-seq
MIRT2267927	hsa-let-7c	CLIP-seq
MIRT2267928	hsa-let-7d	CLIP-seq
MIRT2267929	hsa-let-7e	CLIP-seq
MIRT2267930	hsa-let-7f	CLIP-seq
MIRT2267931	hsa-let-7g	CLIP-seq
MIRT2267932	hsa-let-7i	CLIP-seq
MIRT2267933	hsa-miR-1256	CLIP-seq
MIRT1133011	hsa-miR-1266	CLIP-seq
MIRT2267934	hsa-miR-1271	CLIP-seq
MIRT2267935	hsa-miR-1276	CLIP-seq
MIRT2267936	hsa-miR-182	CLIP-seq
MIRT2267937	hsa-miR-24	CLIP-seq
MIRT2267938	hsa-miR-3150b-3p	CLIP-seq
MIRT2267939	hsa-miR-3154	CLIP-seq
MIRT2267940	hsa-miR-3173-3p	CLIP-seq
MIRT2267941	hsa-miR-3613-3p	CLIP-seq
MIRT2267942	hsa-miR-371b-5p	CLIP-seq
MIRT2267943	hsa-miR-4277	CLIP-seq
MIRT1132989	hsa-miR-4310	CLIP-seq
MIRT2267944	hsa-miR-4458	CLIP-seq
MIRT2267945	hsa-miR-4500	CLIP-seq
MIRT1133014	hsa-miR-4518	CLIP-seq
MIRT1132997	hsa-miR-4533	CLIP-seq
MIRT2267946	hsa-miR-4642	CLIP-seq
MIRT2267947	hsa-miR-4659a-3p	CLIP-seq
MIRT2267948	hsa-miR-4659b-3p	CLIP-seq
MIRT2267949	hsa-miR-4689	CLIP-seq
MIRT2267950	hsa-miR-4695-5p	CLIP-seq
MIRT2267951	hsa-miR-4710	CLIP-seq
MIRT2267952	hsa-miR-4747-5p	CLIP-seq
MIRT2267953	hsa-miR-4778-3p	CLIP-seq
MIRT2267954	hsa-miR-4784	CLIP-seq
MIRT2267955	hsa-miR-4785	CLIP-seq
MIRT2267956	hsa-miR-582-5p	CLIP-seq
MIRT2267957	hsa-miR-583	CLIP-seq
MIRT2267958	hsa-miR-888	CLIP-seq
MIRT2267959	hsa-miR-9	CLIP-seq
MIRT2267960	hsa-miR-96	CLIP-seq
MIRT2267961	hsa-miR-98	CLIP-seq
MIRT2567552	hsa-miR-1245b-5p	CLIP-seq
MIRT1132970	hsa-miR-1252	CLIP-seq
MIRT2567553	hsa-miR-1262	CLIP-seq
MIRT2567554	hsa-miR-1275	CLIP-seq
MIRT2567555	hsa-miR-1305	CLIP-seq
MIRT2567556	hsa-miR-1324	CLIP-seq
MIRT2567557	hsa-miR-149	CLIP-seq
MIRT2567558	hsa-miR-1539	CLIP-seq
MIRT2567559	hsa-miR-154	CLIP-seq
MIRT2567560	hsa-miR-1976	CLIP-seq
MIRT2567561	hsa-miR-2278	CLIP-seq
MIRT2567562	hsa-miR-3142	CLIP-seq
MIRT2567563	hsa-miR-3165	CLIP-seq
MIRT2567564	hsa-miR-3193	CLIP-seq
MIRT2567565	hsa-miR-33a	CLIP-seq
MIRT2567566	hsa-miR-33b	CLIP-seq
MIRT2567567	hsa-miR-3646	CLIP-seq
MIRT2567568	hsa-miR-3662	CLIP-seq
MIRT2567569	hsa-miR-3670	CLIP-seq
MIRT2567570	hsa-miR-4259	CLIP-seq
MIRT2567571	hsa-miR-4316	CLIP-seq
MIRT2567572	hsa-miR-4320	CLIP-seq
MIRT2567573	hsa-miR-4420	CLIP-seq
MIRT2567574	hsa-miR-4451	CLIP-seq
MIRT2567575	hsa-miR-4481	CLIP-seq
MIRT2567576	hsa-miR-4488	CLIP-seq
MIRT2567577	hsa-miR-4522	CLIP-seq
MIRT2567578	hsa-miR-4539	CLIP-seq
MIRT2567579	hsa-miR-4651	CLIP-seq
MIRT2567580	hsa-miR-4659a-5p	CLIP-seq
MIRT2567581	hsa-miR-4659b-5p	CLIP-seq
MIRT2567582	hsa-miR-4665-5p	CLIP-seq
MIRT2567583	hsa-miR-4676-5p	CLIP-seq
MIRT2567584	hsa-miR-4697-5p	CLIP-seq
MIRT2567585	hsa-miR-4701-3p	CLIP-seq
MIRT2567586	hsa-miR-4706	CLIP-seq
MIRT2567587	hsa-miR-4714-5p	CLIP-seq
MIRT2567588	hsa-miR-4722-3p	CLIP-seq
MIRT2567589	hsa-miR-4734	CLIP-seq
MIRT2567590	hsa-miR-4745-5p	CLIP-seq
MIRT2567591	hsa-miR-4749-5p	CLIP-seq
MIRT2567592	hsa-miR-4763-5p	CLIP-seq
MIRT2567593	hsa-miR-4766-5p	CLIP-seq
MIRT2567594	hsa-miR-4769-3p	CLIP-seq
MIRT2567595	hsa-miR-4789-5p	CLIP-seq
MIRT2567596	hsa-miR-4792	CLIP-seq
MIRT2567597	hsa-miR-4793-5p	CLIP-seq
MIRT2567598	hsa-miR-486-3p	CLIP-seq
MIRT2567599	hsa-miR-5096	CLIP-seq
MIRT2567600	hsa-miR-563	CLIP-seq
MIRT2567601	hsa-miR-575	CLIP-seq
MIRT2567602	hsa-miR-607	CLIP-seq
MIRT2567603	hsa-miR-608	CLIP-seq
MIRT2567604	hsa-miR-642a	CLIP-seq
MIRT2567605	hsa-miR-744	CLIP-seq
MIRT2567606	hsa-miR-760	CLIP-seq
MIRT2684624	hsa-miR-1208	CLIP-seq
MIRT2684625	hsa-miR-1236	CLIP-seq
MIRT2684626	hsa-miR-1251	CLIP-seq
MIRT2684627	hsa-miR-125a-3p	CLIP-seq
MIRT2567553	hsa-miR-1262	CLIP-seq
MIRT2684628	hsa-miR-1293	CLIP-seq
MIRT2684629	hsa-miR-129-3p	CLIP-seq
MIRT2684630	hsa-miR-183	CLIP-seq
MIRT1132977	hsa-miR-188-3p	CLIP-seq
MIRT2684631	hsa-miR-1915	CLIP-seq
MIRT2684632	hsa-miR-2355-5p	CLIP-seq
MIRT2684633	hsa-miR-2964a-5p	CLIP-seq
MIRT2684634	hsa-miR-3117-3p	CLIP-seq
MIRT2684635	hsa-miR-3117-5p	CLIP-seq
MIRT2684636	hsa-miR-3160-5p	CLIP-seq
MIRT2684637	hsa-miR-3194-5p	CLIP-seq
MIRT2684638	hsa-miR-34c-3p	CLIP-seq
MIRT2684639	hsa-miR-3649	CLIP-seq
MIRT2684640	hsa-miR-3925-3p	CLIP-seq
MIRT2684641	hsa-miR-3934	CLIP-seq
MIRT2684642	hsa-miR-4252	CLIP-seq
MIRT2684643	hsa-miR-4264	CLIP-seq
MIRT2684644	hsa-miR-4483	CLIP-seq
MIRT2684645	hsa-miR-4487	CLIP-seq
MIRT2684646	hsa-miR-4494	CLIP-seq
MIRT2684647	hsa-miR-452	CLIP-seq
MIRT2684648	hsa-miR-4676-3p	CLIP-seq
MIRT2567583	hsa-miR-4676-5p	CLIP-seq
MIRT2684649	hsa-miR-4679	CLIP-seq
MIRT2684650	hsa-miR-4684-5p	CLIP-seq
MIRT2684651	hsa-miR-4690-3p	CLIP-seq
MIRT2567585	hsa-miR-4701-3p	CLIP-seq
MIRT2684652	hsa-miR-4713-5p	CLIP-seq
MIRT2684653	hsa-miR-4768-5p	CLIP-seq
MIRT2267953	hsa-miR-4778-3p	CLIP-seq
MIRT2684654	hsa-miR-492	CLIP-seq
MIRT2684655	hsa-miR-511	CLIP-seq
MIRT2567601	hsa-miR-575	CLIP-seq
MIRT2684656	hsa-miR-593	CLIP-seq
MIRT2684657	hsa-miR-622	CLIP-seq
MIRT2684658	hsa-miR-651	CLIP-seq
MIRT2684659	hsa-miR-764	CLIP-seq
MIRT2684660	hsa-miR-766	CLIP-seq
MIRT2267959	hsa-miR-9	CLIP-seq

Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001867	Process	Complement activation, lectin pathway	IBA
GO:0001867	Process	Complement activation, lectin pathway	IDA	18204047, 22691502
GO:0001867	Process	Complement activation, lectin pathway	IDA	9087411, 22511776, 22691502, 22854970, 22966085, 23386610
GO:0001867	Process	Complement activation, lectin pathway	IEA
GO:0001867	Process	Complement activation, lectin pathway	IMP	17182967
GO:0001905	Process	Activation of membrane attack complex	IDA	18204047
GO:0002376	Process	Immune system process	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IDA	11527969, 20038603, 22691502, 22966085, 23386610, 23792966, 27535802
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005509	Function	Calcium ion binding	IDA	18596036
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	10946292, 11290788, 11485744, 11907111, 18177377, 19939495, 20956340, 21035894, 22607836, 22854970, 23785123, 23861840, 24174618, 25579818, 27104295, 32041782
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	27535802
GO:0005615	Component	Extracellular space	IDA	11485744
GO:0005615	Component	Extracellular space	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006508	Process	Proteolysis	IEA
GO:0006956	Process	Complement activation	IDA	26841934, 30111885, 37852260
GO:0006956	Process	Complement activation	IEA
GO:0006957	Process	Complement activation, alternative pathway	IDA	22362762
GO:0006957	Process	Complement activation, alternative pathway	IDA	27535802
GO:0008228	Process	Opsonization	IDA	3897448, 8538770
GO:0008233	Function	Peptidase activity	IDA	10946292, 12538697
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031638	Process	Zymogen activation	IDA	22691502
GO:0031638	Process	Zymogen activation	IDA	22691502, 23386610, 27535802
GO:0031640	Process	Killing of cells of another organism	IDA	30552328
GO:0042802	Function	Identical protein binding	IPI	22854970, 23785123
GO:0042803	Function	Protein homodimerization activity	IPI	18596036
GO:0045087	Process	Innate immune response	IEA
GO:0045916	Process	Negative regulation of complement activation	IDA	11485744
GO:0046872	Function	Metal ion binding	IEA
GO:0048306	Function	Calcium-dependent protein binding	IEA
GO:0048306	Function	Calcium-dependent protein binding	IPI	12421953, 18596036
GO:0051604	Process	Protein maturation	IDA	6906228, 18204047, 22691502
GO:0051604	Process	Protein maturation	IDA	27535802
GO:0106139	Component	Symbiont cell surface	IDA	22966085

MIM	HGNC	e!Ensembl
600521	6901	ENSG00000127241

P48740

Protein name

Mannan-binding lectin serine protease 1 (EC 3.4.21.-) (Complement factor MASP-3) (Complement-activating component of Ra-reactive factor) (Mannose-binding lectin-associated serine protease 1) (MASP-1) (Mannose-binding protein-associated serine protease) (R

Protein function

Functions in the lectin pathway of complement, which performs a key role in innate immunity by recognizing pathogens through patterns of sugar moieties and neutralizing them. The lectin pathway is triggered upon binding of mannan-binding lectin

PDB

3DEM , 3GOV , 4AQB , 4DJZ , 4IGD , 4IW4 , 4KKD , 7PQO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00431	CUB	20 → 135	CUB domain	Domain
PF00431	CUB	185 → 294	CUB domain	Domain
PF00084	Sushi	301 → 362	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	367 → 432	Sushi repeat (SCR repeat)	Domain
PF00089	Trypsin	449 → 691	Trypsin	Domain

Tissue specificity

TISSUE SPECIFICITY: Protein of the plasma which is primarily expressed by liver. {ECO:0000269|PubMed:11485744, ECO:0000269|PubMed:8018603, ECO:0000269|PubMed:8240317, ECO:0000269|PubMed:9367419}.

Sequence

MRWLLLYYALCFSLSKASAHTVELNNMFGQIQSPGYPDSYPSDSEVTWNITVPDGFRIKL
YFMHFNLESSYLCEYDYVKVETEDQVLATFCGRETTDTEQTPGQEVVLSPGSFMSITFRS
DFSNEERFTGFDAHYMAVDVDECKEREDEELSCDHYCHNYIGGYYCSCRFGYILHTDNRT
CRVECSDNLFTQRTGVITSPDFPNPYPKSSECLYTIELEEGFMVNLQFEDIFDIEDHPEV
PCPYDYIKIKVGPKVLGPFCGEKAPEPISTQSHSVLILFHSDNSGENRGWRLSYRAAGNE
CPELQPPVHGKIEPSQAKYFFKDQVLVSCDTGYKVLKDNVEMDTFQIECLKDGTWSNKIP
TCKIVDCRAPGELEHGLITFSTRNNLTTYKSEIKYSCQEPYYKMLNNNTGIYTCSAQGVW
MNKVLGRSLPTCLPVCGLPKFSRKLMARIFNGRPAQKGTTPWIAMLSHLNGQPFCGGSLL
GSSWIVTAAHCLHQSLDPEDPTLRDSDLLSPSDFKIILGKHWRLRSDENEQHLGVKHTTL
HPQYDPNTFENDVALVELLESPVLNAFVMPICLPEGPQQEGAMVIVSGWGKQFLQRFPET
LMEIEIPIVDHSTCQKAYAPLKKKVTRDMICAGEKEGGKDACAGDSGGPMVTLNRERGQW
YLVGTVSWGDDCGKKDRYGVYSYIHHNKDWIQRVTGVRN

Sequence length

699

Interactions

View interactions

	KEGG		Reactome
	Complement and coagulation cascades Staphylococcus aureus infection Coronavirus disease - COVID-19		Lectin pathway of complement activation Initial triggering of complement Ficolins bind to repetitive carbohydrate structures on the target cell surface Scavenging by Class A Receptors

164

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
3MC syndrome 1	Likely pathogenic; Pathogenic	rs2474093039, rs387906752, rs387906753, rs387906754, rs533236263, rs763360042, rs1560255926, rs1579537069, rs1713182815, rs749073173, rs373254538, rs1714622835	RCV002308573 RCV000022977 RCV000022978 RCV000022979 RCV000022980 RCV000022981 RCV000694001 RCV000995806 RCV001199075 RCV001199074 RCV001198448 RCV001261284

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Gastric cancer	Benign; Conflicting classifications of pathogenicity	rs201073458, rs138989954	RCV005925889 RCV005897351
Hypertrophic cardiomyopathy	Uncertain significance	rs765808321	RCV001199400
MASP1-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs13322090, rs72549176, rs747651002, rs16861801, rs116001173, rs145045341, rs144990402, rs2474078190, rs1714606491, rs368371184, rs28945073, rs368131756, rs199736644, rs770767772, rs1474876035 View all (14 more)	RCV003910943 RCV003933740 RCV003900898 RCV003909925 RCV003930116 RCV003957463 RCV003893371 RCV003921444 RCV003921730 RCV003974151 RCV003981367 RCV003899193 RCV003899654 RCV003947351 RCV003942287 RCV003954482 RCV003969720 RCV003968993 RCV003980238 RCV003918202 RCV003965584 RCV003938399 RCV003920410 RCV003895357 RCV003920445 RCV003970744 RCV003978340 RCV003902848 RCV003928658
Microcephaly	Uncertain significance	rs1713168510	RCV001252898
Monogenic hearing loss	Conflicting classifications of pathogenicity	rs113938200	RCV005400753
Ovarian cancer	Likely benign; Conflicting classifications of pathogenicity	rs72549176, rs138989954	RCV005931703 RCV005897350
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs72549251, rs138989954	RCV005915045 RCV005897352

Show/Hide Text Mining Associations (51)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Angioedemas Hereditary	Associate	18250972
Behcet Syndrome	Associate	37264476
Blindness	Associate	27605007
Brain Diseases	Associate	26419238
Carcinoma Hepatocellular	Associate	38115320
Carcinoma Squamous Cell	Associate	19607727
Carnevale syndrome	Associate	21035106
Central Nervous System Vascular Malformations	Associate	26419238
Cleft Palate	Associate	23792966
Complement Component 3 Deficiency Autosomal Recessive	Associate	23841802
COVID 19	Associate	35511137, 37051252, 37204457
Craniosynostoses	Associate	32441374
Diabetes Mellitus	Associate	30599058
Diabetes Mellitus Type 2	Associate	30599058
Edema	Associate	31130964
Fibrosis	Associate	23841802
Genetic Diseases Inborn	Associate	32441374
Glomerulonephritis IGA	Associate	37065697
Hashimoto Disease	Associate	37457741
Hepatitis C	Associate	23841802
Infections	Associate	31130964
Inflammation	Stimulate	31130964
Inflammation	Associate	37173738
Intellectual Disability	Associate	23792966
Jensen syndrome	Associate	31985533
Kidney Diseases	Associate	32441374
Labyrinth Diseases	Associate	31985533
Leprosy	Associate	32240160
Leprosy Lepromatous	Inhibit	32240160
Leprosy Lepromatous	Associate	32240160
Liver Cirrhosis	Associate	23841802
Liver Diseases	Associate	26419238
Lupus Erythematosus Systemic	Associate	17444953
Macular Degeneration	Stimulate	27605007
Malpuech facial clefting syndrome	Associate	21035106, 34636477
Multiple Sclerosis	Associate	31170158
Multiple System Atrophy	Associate	29850876
Musculoskeletal Abnormalities	Associate	23792966
Neoplasms	Inhibit	35745075
Non Muscle Invasive Bladder Neoplasms	Associate	27197286
Oculopalatoskeletal syndrome	Associate	21035106, 23792966, 26419238, 32441374
Osteoporosis	Stimulate	37874452
Prediabetic State	Associate	30599058
Pulmonary Embolism	Associate	23726092
Stomach Neoplasms	Inhibit	36196721
Systemic Inflammatory Response Syndrome	Associate	17444953
Thyroid Cancer Papillary	Stimulate	37457741
Tuberculosis	Stimulate	29515573
Tuberculosis Pulmonary	Associate	29515573
Uterine Cervical Neoplasms	Associate	39372720
Venous Thromboembolism	Associate	34309635

MASP1 (MBL associated serine protease 1)