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

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (18)

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.
3MC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNEVALE SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ULNAR RENAL SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MALPUECH FACIAL CLEFTING SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASP1-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic hearing loss	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULOPALATOSKELETAL SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (113)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
3MC syndrome	3MC syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Accessory nipple	Accessory Nipple	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	27605007		★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	GWASCAT_DG	24529757		★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	Amyotrophic lateral sclerosis	GWASCAT_DG	24529757		★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)	Amyotrophic lateral sclerosis	GWASCAT_DG	24529757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	GWASCAT_DG	24529757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Angioedemas Hereditary	Angioedema	Pubtator	18250972	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	25070856, 27707997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	30905589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	37264476	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	27605007	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	26419238	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38115320	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	19607727	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27055907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carnevale syndrome	Carnevale syndrome	Pubtator	21035106	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carnevale syndrome	3MC syndrome	CTD_human_DG	21258343		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
cervical cancer	Cervical Cancer	BEFREE	30532757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30532757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	23792966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Complement Component 3 Deficiency Autosomal Recessive	Complement component deficiency	Pubtator	23841802	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conjunctival telangiectasis	Conjunctival Telangiectasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronal craniosynostosis	Coronal craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniofacial ulnar renal syndrome	Craniofacial Ulnar Renal Syndrome	ORPHANET_DG	21258343		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial ulnar renal syndrome	Craniofacial Ulnar Renal Syndrome	BEFREE	26789649, 27377710, 28301481, 29407414		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostoses	Craniosynostosis	Pubtator	32441374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	22940091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	30734924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	25912189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28318015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28318015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	30599058	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	30599058	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28318015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30130595		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	BEFREE	30986866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	31130964	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	23841802		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	29892304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	37065697	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	37457741	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	23841802	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia	BEFREE	20008565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Incontinentia Pigmenti Achromians	Incontinentia Pigmenti Achromians	CTD_human_DG	21258343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	23792966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28720568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	32441374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	30814659		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	32240160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy Lepromatous	Leprosy	Pubtator	32240160	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy Lepromatous	Leprosy	Pubtator	32240160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	21412173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	23841802	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	26419238	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	29892304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	17444953	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	29892304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	25877499, 29892304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	29892304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	27605007	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19448671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30532757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malpuech facial clefting syndrome	Malpuech facial clefting syndrome	Pubtator	21035106, 34636477	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malpuech facial clefting syndrome	Malpuech Facial Clefting Syndrome	CTD_human_DG	21258343		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mannose-Binding Protein Deficiency	Mannose-Binding Protein Deficiency	BEFREE	22773339		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17113160, 26732593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	31170158	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	29850876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28216633		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15949439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculopalatoskeletal syndrome	3MC syndrome	GENOMICS_ENGLAND_DG	17937425, 21035106, 8921412		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculopalatoskeletal syndrome	Oculopalatosekeletal syndrome	Pubtator	21035106, 23792966, 26419238, 32441374	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculopalatoskeletal syndrome	3MC syndrome	CTD_human_DG	21258343		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculopalatoskeletal syndrome	3MC syndrome	BEFREE	25912189, 26419238		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculopalatoskeletal syndrome	3MC syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oral cleft	Oral cleft	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	37874452	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pigmentation Disorders	Pigmentation Disorders	CTD_human_DG	21258343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19448671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	30814659		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	27707997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30986866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19607727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23632916		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	19607727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36196721	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29675579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes transversoplanus	Talipes Transversoplanus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	37457741	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	39372720	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	34309635	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

MASP1 (MBL associated serine protease 1)