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	5265
Gene name	Serpin family A member 1
Gene symbol	SERPINA1
Synonyms (NCBI Gene)	A1AA1ATAATPIPI1PRO2275alpha1ATnNIF
Chromosome	14
Chromosome location	14q32.13
Summary	The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow

Show/Hide all (68)

SNP ID	Visualize variation	Clinical significance	Consequence
rs17580	T>A	Pathogenic, risk-factor, other	Coding sequence variant, missense variant
rs1802959	C>G,T	Pathogenic, uncertain-significance, other	Coding sequence variant, missense variant
rs11558261	C>T	Pathogenic, other	Coding sequence variant, missense variant
rs28929470	G>A,T	Other, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs28929474	C>G,T	Other, pathogenic	Coding sequence variant, missense variant
rs28931568	C>T	Other, pathogenic	Coding sequence variant, missense variant
rs28931569	A>G	Other, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs28931570	G>A	Pathogenic-likely-pathogenic, other, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs28931572	A>T	Other, pathogenic	Coding sequence variant, missense variant
rs55819880	G>A	Other, pathogenic	Coding sequence variant, missense variant
rs56388024	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs61761869	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72552401	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs112030253	C>A,T	Conflicting-interpretations-of-pathogenicity, other, uncertain-significance	Missense variant, coding sequence variant
rs112661131	A>G	Likely-pathogenic	Splice donor variant
rs113817720	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121912712	C>T	Benign, conflicting-interpretations-of-pathogenicity, other	Missense variant, coding sequence variant
rs121912713	A>C	Pathogenic	Missense variant, coding sequence variant
rs121912714	T>A	Conflicting-interpretations-of-pathogenicity, other	Missense variant, coding sequence variant
rs138611390	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs139964603	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs141620200	C>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, coding sequence variant
rs143920236	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs146596574	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs147283849	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs150784949	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs199422209	G>A,C,T	Other, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs199422210	G>A,C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, stop gained
rs199422211	T>A	Other, likely-pathogenic	Coding sequence variant, stop gained
rs199422213	G>A	Other, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs267606950	G>-	Other, pathogenic	Coding sequence variant, stop gained
rs370038282	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs550592374	A>C,G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs746155701	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs751235320	C>A	Likely-pathogenic	Splice donor variant
rs753313462	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs756773408	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs762321137	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs763023697	A>-,AA	Pathogenic	Stop gained, frameshift variant, coding sequence variant
rs764220898	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs764325655	G>-,GG	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs766128806	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs773222881	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs775982338	AGA>-	Other, pathogenic	Inframe deletion, coding sequence variant
rs864622043	GCAGCTTC>TGTTTTT	Pathogenic	Coding sequence variant, frameshift variant
rs864622051	G>A,C	Pathogenic-likely-pathogenic, likely-benign	Coding sequence variant, stop gained, missense variant
rs1057516212	AGTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057516448	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516555	T>C	Likely-pathogenic	Initiator codon variant, missense variant
rs1057516929	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057519610	AG>-	Other, pathogenic	Frameshift variant, coding sequence variant
rs1445192595	C>A,T	Likely-benign, likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1457464431	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1488213352	A>G	Pathogenic	Coding sequence variant, missense variant
rs1555367891	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555367892	TG>-	Pathogenic	Stop gained, coding sequence variant
rs1555367896	GGAGGGGAGAGAAGCAGAGACACGTTGTAAGGCTGATCCCAGGCCTCGAGCAAGGCTCACGTGGACACCTCCCAGGAAGCGCTCACTCCCCCTGGACGGCCCTGGCCCTGCACATCCTCTCCCTCCCTGTCACATAGGCCTTGCTCCTCCTCAAGGCTTTGGCTGATGGGGCTGGCTCCCCTCTGTCCATCTTCCTGACAAGCGCCTCTCCCCCTGCTCAGGTGCACCCACAACTCAGAACAGGGAAGAGCATCG	Pathogenic	Splice donor variant, splice acceptor variant, stop gained, coding sequence variant, intron variant, inframe indel
rs1555367897	C>A	Likely-pathogenic	Splice acceptor variant
rs1555368557	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1555368758	C>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs1555368976	T>C	Pathogenic	Coding sequence variant, missense variant
rs1555369128	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1555369172	A>G	Pathogenic	Coding sequence variant, missense variant
rs1555369198	G>T	Pathogenic	Coding sequence variant, missense variant
rs1555369299	T>-	Pathogenic	5 prime UTR variant, initiator codon variant, frameshift variant
rs1566753480	A>G	Pathogenic	Coding sequence variant, missense variant
rs1566756379	AA>T	Pathogenic	Coding sequence variant, frameshift variant
rs1566759056	A>G	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (58)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016814	hsa-miR-335-5p	Microarray	18185580
MIRT1338589	hsa-miR-3165	CLIP-seq
MIRT1338590	hsa-miR-615-5p	CLIP-seq
MIRT1338591	hsa-miR-661	CLIP-seq
MIRT1338592	hsa-miR-3180-5p	CLIP-seq
MIRT1338593	hsa-miR-4264	CLIP-seq
MIRT1338594	hsa-miR-4704-3p	CLIP-seq
MIRT1338595	hsa-miR-515-3p	CLIP-seq
MIRT1338596	hsa-miR-519e	CLIP-seq
MIRT1338597	hsa-miR-520a-5p	CLIP-seq
MIRT1338598	hsa-miR-525-5p	CLIP-seq
MIRT1338599	hsa-miR-3174	CLIP-seq
MIRT1338600	hsa-miR-3925-5p	CLIP-seq
MIRT1338601	hsa-miR-4276	CLIP-seq
MIRT1338602	hsa-miR-4534	CLIP-seq
MIRT1338603	hsa-miR-4640-5p	CLIP-seq
MIRT1338604	hsa-miR-4697-3p	CLIP-seq
MIRT1338605	hsa-miR-4720-3p	CLIP-seq
MIRT1338606	hsa-miR-4726-5p	CLIP-seq
MIRT1338607	hsa-miR-4728-5p	CLIP-seq
MIRT1338608	hsa-miR-4773	CLIP-seq
MIRT1338609	hsa-miR-4802-5p	CLIP-seq
MIRT2100113	hsa-miR-2861	CLIP-seq
MIRT2100114	hsa-miR-3182	CLIP-seq
MIRT2100115	hsa-miR-370	CLIP-seq
MIRT2100116	hsa-miR-4314	CLIP-seq
MIRT2100117	hsa-miR-4667-5p	CLIP-seq
MIRT2100118	hsa-miR-4700-5p	CLIP-seq
MIRT2100119	hsa-miR-4731-5p	CLIP-seq
MIRT2100120	hsa-miR-637	CLIP-seq
MIRT2620505	hsa-miR-1321	CLIP-seq
MIRT2620506	hsa-miR-134	CLIP-seq
MIRT2620507	hsa-miR-3118	CLIP-seq
MIRT2620508	hsa-miR-3150b-3p	CLIP-seq
MIRT2620509	hsa-miR-3154	CLIP-seq
MIRT2620510	hsa-miR-3162-5p	CLIP-seq
MIRT2620511	hsa-miR-3164	CLIP-seq
MIRT2620512	hsa-miR-4434	CLIP-seq
MIRT2620513	hsa-miR-4501	CLIP-seq
MIRT2620514	hsa-miR-4516	CLIP-seq
MIRT2620515	hsa-miR-4739	CLIP-seq
MIRT2620516	hsa-miR-4756-5p	CLIP-seq
MIRT2620517	hsa-miR-4784	CLIP-seq
MIRT2620518	hsa-miR-765	CLIP-seq
MIRT2620505	hsa-miR-1321	CLIP-seq
MIRT2620506	hsa-miR-134	CLIP-seq
MIRT2620507	hsa-miR-3118	CLIP-seq
MIRT2620508	hsa-miR-3150b-3p	CLIP-seq
MIRT2620509	hsa-miR-3154	CLIP-seq
MIRT2620510	hsa-miR-3162-5p	CLIP-seq
MIRT2620511	hsa-miR-3164	CLIP-seq
MIRT2620512	hsa-miR-4434	CLIP-seq
MIRT2620513	hsa-miR-4501	CLIP-seq
MIRT2620514	hsa-miR-4516	CLIP-seq
MIRT2620515	hsa-miR-4739	CLIP-seq
MIRT2620516	hsa-miR-4756-5p	CLIP-seq
MIRT2620517	hsa-miR-4784	CLIP-seq
MIRT2620518	hsa-miR-765	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IPI	15853774
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IBA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IDA	15795238
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	NAS	12878203
GO:0005515	Function	Protein binding	IPI	11057674, 12860985, 12878203, 15271889, 15845869, 16192646, 16321984, 17380188, 20477988, 22115549, 23826168, 31142615, 31358993, 32814053, 33741941
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470, 23580065
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	6980881, 25645918
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	IMP	16192646
GO:0005783	Component	Endoplasmic reticulum	IDA	20477988, 23826168
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005794	Component	Golgi apparatus	IDA	20477988
GO:0006953	Process	Acute-phase response	IEA
GO:0007596	Process	Blood coagulation	IEA
GO:0007599	Process	Hemostasis	IEA
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	TAS
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28344315, 28675934
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0042802	Function	Identical protein binding	IPI	11057674, 18923394, 21909074, 22405009
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

MIM	HGNC	e!Ensembl
107400	8941	ENSG00000197249

P01009

Protein name

Alpha-1-antitrypsin (Alpha-1 protease inhibitor) (Alpha-1-antiproteinase) (Serpin A1) [Cleaved into: Short peptide from AAT (SPAAT)]

Protein function

Inhibitor of serine proteases. Its primary target is elastase, but it also has a moderate affinity for plasmin and thrombin. Irreversibly inhibits trypsin, chymotrypsin and plasminogen activator. The aberrant form inhibits insulin-induced NO syn

PDB

1ATU , 1D5S , 1EZX , 1HP7 , 1IZ2 , 1KCT , 1OO8 , 1OPH , 1PSI , 1QLP , 1QMB , 2D26 , 2QUG , 3CWL , 3CWM , 3DRM , 3DRU , 3NDD , 3NDF , 3NE4 , 3T1P , 4PYW , 5IO1 , 5NBU , 5NBV , 6HX4 , 6I4V , 6I7U , 6IAY , 6ROD , 7AEL , 7API , 7NPK , 7NPL , 8API , 8P4J , 8P4U , 8PI2 , 8QZ5 , 8R13 , 8R21 , 9API

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00079	Serpin	52 → 415	Serpin (serine protease inhibitor)	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Expressed in leukocytes and plasma. {ECO:0000269|PubMed:23826168}.

Sequence

MPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQKTDTSHHDQDHPTFNKITPNLAEFAFS
LYRQLAHQSNSTNIFFSPVSIATAFAMLSLGTKADTHDEILEGLNFNLTEIPEAQIHEGF
QELLRTLNQPDSQLQLTTGNGLFLSEGLKLVDKFLEDVKKLYHSEAFTVNFGDTEEAKKQ
INDYVEKGTQGKIVDLVKELDRDTVFALVNYIFFKGKWERPFEVKDTEEEDFHVDQVTTV
KVPMMKRLGMFNIQHCKKLSSWVLLMKYLGNATAIFFLPDEGKLQHLENELTHDIITKFL
ENEDRRSASLHLPKLSITGTYDLKSVLGQLGITKVFSNGADLSGVTEEAPLKLSKAVHKA
VLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK

Sequence length

418

Interactions

View interactions

	KEGG		Reactome
	Complement and coagulation cascades		Platelet degranulation COPII-mediated vesicle transport Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Cargo concentration in the ER Neutrophil degranulation Post-translational protein phosphorylation

635

Show/Hide Causal Diseases (41)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Alpha-1-antitrypsin deficiency	Likely pathogenic; Pathogenic	rs199422209, rs2139665561, rs2139691603, rs72555374, rs1200349975, rs28929474, rs11558264, rs764325655, rs764220898, rs751235320, rs199422210, rs775786225, rs2504784138, rs1480528329, rs2504728206 View all (58 more)	RCV001377892 RCV001388619 RCV001388184 RCV001956095 RCV001951534 RCV001984018 RCV002310455 RCV000169195 RCV000169405 RCV000169461 RCV000169206 RCV003064236 RCV003090674 RCV002598958 RCV002786692 RCV002810077 RCV002947641 RCV000204775 RCV000204423 RCV000336993 RCV003384315 RCV003472651 RCV003472652 RCV003472653 RCV003472654 RCV003472655 RCV003472656 RCV003472657 RCV003472658 RCV003486404 RCV003829321 RCV000262058 RCV000409001 RCV000201855 RCV000148878 RCV000201848 RCV000148875 RCV000148876 RCV000019579 RCV000169162 RCV000201857 RCV000201860 RCV000512622 RCV000201851 RCV000169508 RCV004573570 RCV004573571 RCV004573572 RCV000408906 RCV000411305 RCV000410206 RCV000411387 RCV000409474 RCV000411794 RCV000411735 RCV000508902 RCV000508966 RCV000508923 RCV000512620 RCV000512630 RCV000512623 RCV000512617 RCV000512625 RCV000512628 RCV000512624 RCV000512614 RCV000668239 RCV000667719 RCV000666593 RCV000671556 RCV000768542 RCV000768537 RCV000779150 RCV000853412 RCV001065386
Cholangiocarcinoma	Pathogenic	rs17580	RCV005887574
Chronic obstructive pulmonary disease	Pathogenic	rs17580	RCV000762932
Colorectal cancer	Pathogenic	rs17580	RCV005887571
Cystic fibrosis	Pathogenic	rs17580	RCV000991136
Gastric cancer	Pathogenic	rs17580	RCV005887573
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation	Pathogenic	rs121912713	RCV000019591
Hepatocellular carcinoma	Likely pathogenic; Pathogenic	rs751235320, rs17580	RCV005889647 RCV005887568
Malignant tumor of esophagus	Pathogenic	rs17580	RCV005887569
Mitochondrial complex I deficiency, nuclear type 21	Pathogenic	rs121912714	RCV005861023
Nonpapillary renal cell carcinoma	Pathogenic	rs17580	RCV005887570
PI I	Likely pathogenic; Pathogenic	rs28931570	RCV000019575
PI M(HEERLEN)	Pathogenic	rs199422209	RCV000019565
PI M(MALTON)	Pathogenic	rs775982338	RCV000019568
PI M(MINERAL SPRINGS)	Pathogenic	rs28931568	RCV000019566
PI M(PROCIDA)	Likely pathogenic; Pathogenic	rs28931569	RCV000019571
PI NULL(BELLINGHAM)	Pathogenic	rs199422211	RCV000019581
PI NULL(BOLTON)	Likely pathogenic; Pathogenic	rs764325655	RCV000019589
PI NULL(CARDIFF)	Pathogenic	rs121912714	RCV000019577
PI NULL(DEVON)	Pathogenic	rs11558261	RCV000019597
PI NULL(HONG KONG 1)	Pathogenic	rs1057519610	RCV000019587
PI NULL(LUDWIGSHAFEN)	Pathogenic	rs28931572	RCV000019601
PI NULL(NEWPORT)	Pathogenic	rs11558261	RCV000019599
PI NULL(WEST)	Likely pathogenic; Pathogenic	rs751235320	RCV000019606
PI P(DUARTE)	Pathogenic	rs121912714	RCV000019605
PI P(LOWELL)	Pathogenic	rs121912714	RCV000019576
PI Q0(BELLINGHAM)	Pathogenic	rs199422211	RCV000019582
PI Q0(BOLTON)	Likely pathogenic; Pathogenic	rs764325655	RCV000019590
PI Q0(CARDIFF)	Pathogenic	rs121912714	RCV000019578
PI Q0(DEVON)	Pathogenic	rs11558261	RCV000019598
PI Q0(GRANITE FALLS)	Pathogenic	rs267606950	RCV000019580
PI Q0(HONG KONG 1)	Pathogenic	rs1057519610	RCV000019588
PI Q0(LUDWIGSHAFEN)	Pathogenic	rs28931572	RCV000019602
PI Q0(NEWPORT)	Pathogenic	rs11558261	RCV000019600
PI S	Pathogenic	rs17580	RCV000019569
PI S(IIYAMA)	Pathogenic	rs55819880	RCV000019608
Sarcoma	Pathogenic	rs17580	RCV005887572
See cases	Likely pathogenic; Pathogenic	rs28931569	RCV004584332
SERPINA1-related disorder	Likely pathogenic; Pathogenic	rs61761869, rs1275309068, rs775982338, rs199422209, rs17580, rs28931570, rs121912714, rs1488213352, rs1555368557	RCV003409418 RCV003402971 RCV003417992 RCV003944831 RCV003415722 RCV003390693 RCV003415723 RCV004748795 RCV003409721
Susceptibility to severe coronavirus disease (COVID-19)	Pathogenic	rs17580	RCV002466248
Uterine corpus endometrial carcinoma	Pathogenic	rs17580	RCV005887575

Show/Hide Unknown Diseases (31)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1555368976, rs1555369198, rs1566759056	-
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs141620200	RCV005895843
Cervical cancer	Conflicting classifications of pathogenicity	rs141620200	RCV005895845
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs141620200	RCV005895842
Familial cancer of breast	Conflicting classifications of pathogenicity	rs141620200	RCV005895841
FRAXE	Conflicting classifications of pathogenicity; risk factor	rs28929474	RCV000194811
Hereditary angioedema with normal C1Inh	Uncertain significance; not provided	rs1595598934, rs1595613479	RCV001027418 RCV001027417
Lung cancer	Conflicting classifications of pathogenicity	rs141620200	RCV005895847
Neurodevelopmental disorder	Conflicting classifications of pathogenicity; risk factor	rs28929474	RCV002276567
PI CHRISTCHURCH	Conflicting classifications of pathogenicity	rs121912712	RCV000019564
PI F	Conflicting classifications of pathogenicity	rs28929470	RCV000019561
PI KALSHEKER-POLLER	Benign; Likely benign	rs11568814	RCV000019604
PI M1-ALA213	Benign; Likely benign	rs6647	RCV000019553 RCV000019555
PI M2	Benign; Likely benign	rs709932	RCV000019557
PI M3	Benign; Likely benign	rs1303	RCV000019558
PI M4	Benign; Likely benign	rs709932	RCV000019559
PI NULL(MATTAWA)	other	rs28929473	RCV000019583
PI P(ST. ALBANS)	Benign; Likely benign	rs143370956	RCV000019562
PI V(MUNICH)	Benign; other	rs199422212	RCV000019593
PI W(BETHESDA)	Uncertain significance	rs1802959	RCV000019596
PI X	Uncertain significance	rs199422208	RCV000019563
PI Z	Conflicting classifications of pathogenicity; risk factor	rs28929474	RCV000019567
PI Z(AUGSBURG)	Conflicting classifications of pathogenicity; risk factor	rs28929474	RCV000019594
PI Z(BRISTOL)	Uncertain significance	rs199422213	RCV000019609
PI Z(TUN)	Conflicting classifications of pathogenicity; risk factor	rs28929474	RCV000019595
PI Z(WREXHAM)	Uncertain significance	rs140814100	RCV000019570
PI, M1A	Benign; Likely benign	rs6647	RCV000019554
PI, M1V	Benign	rs6647	RCV000019556
Squamous cell carcinoma	Uncertain significance	rs370923940	RCV003129617
Thymoma	Benign	rs1243164	RCV005893341
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs141620200	RCV005895846

Show/Hide Text Mining Associations (314)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acquired Immunodeficiency Syndrome	Associate	27473095
Activated Protein C Resistance	Associate	2298753
Acute Coronary Syndrome	Associate	33858475
Acute Disease	Associate	32362107
Acute Kidney Injury	Associate	20827258
Adenocarcinoma of Lung	Associate	1739634, 22896658, 28404947
Albuminuria	Associate	26772976
alpha 1 Antitrypsin Deficiency	Associate	1081966, 12879958, 17241866, 17428650, 18353624, 1905728, 1967187, 20170533, 21752289, 22016686, 22621770, 23055718, 2309708, 24177906, 24299514 View all (62 more)
alpha 1 Antitrypsin Deficiency	Inhibit	11582965, 12108863, 1504439, 1905728, 1975477, 20054436, 20521180, 21060150, 2254451, 2309708, 23251618, 23560990, 24332120, 27246852, 28486562 View all (22 more)
alpha 1 Antitrypsin Deficiency	Stimulate	1967187, 23161303
alpha 1 Antitrypsin Deficiency Autosomal Recessive	Inhibit	26005342
Altitude Sickness	Associate	37841248
Alzheimer Disease	Associate	31957347, 35805926
Amyloidosis Hereditary Transthyretin Related	Associate	26147092
Amyotrophic lateral sclerosis 1	Associate	28808785
Anemia	Associate	36320441
Angioedemas Hereditary	Associate	3484755, 3484756
Anthropophobia	Associate	18850380
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis	Associate	29592975, 34888651, 37004177, 7474674, 8315946
Anti plasmin deficiency congenital	Inhibit	24646657
Aortic Aneurysm Abdominal	Associate	21843957
Arthritis	Associate	334801
Arthritis Infectious	Associate	27382189
Arthritis Psoriatic	Associate	3487595
Arthritis Rheumatoid	Associate	2784307, 32473759, 3488034
Ascites	Associate	27500424
Asthma	Associate	16476537, 25425243, 28947017, 30530896, 33192056, 37236906, 39276924, 40508213
Ataxia	Associate	29470411
Atherosclerosis	Associate	27616885, 28265093
Autoimmune Diseases	Associate	33542414
Autoimmune enteropathy	Associate	32431271
Behcet Syndrome	Associate	32580239
beta Thalassemia	Associate	34559910
Bipolar Disorder	Associate	25487697
Blood Coagulation Disorders	Associate	19483159, 2191958
Bone Marrow Diseases	Stimulate	32383346
Brain Diseases	Associate	23028511
Breast Neoplasms	Associate	15498560, 17127214, 19782370, 26158350, 32305991, 32618109, 34183495
Bronchiectasis	Associate	17237579, 26005342, 3038256, 33192056
Bronchiolitis Obliterans Syndrome	Associate	19379511
Bronchiolitis Obliterans Syndrome	Inhibit	24380698
Bronchitis	Associate	309951, 40508213
Bronchitis Chronic	Associate	25425243, 32427833
Bronchopulmonary Dysplasia	Inhibit	25474412
Brugada Syndrome	Associate	23276942
Carcinogenesis	Associate	26015410, 32362107, 32533048
Carcinoma Hepatocellular	Associate	15498560, 1718986, 19961268, 2160076, 23935864, 24607627, 2555792, 2823229, 28561948, 31698564, 32076459, 34638908, 6326791
Carcinoma Hepatocellular	Inhibit	21639939
Carcinoma Non Small Cell Lung	Inhibit	19608585
Carcinoma Non Small Cell Lung	Associate	23613495, 32232956, 35211754, 37501182
Carcinoma Ovarian Epithelial	Associate	19709441, 22960333, 30917846
Carcinoma Renal Cell	Associate	15953868
Carcinoma Squamous Cell	Associate	30607583
Cardiomyopathy Dilated	Associate	29540862
Cardiovascular Diseases	Associate	24039863, 29212317, 33469137, 40508213
Cartilage Diseases	Associate	34270864
Cell Transformation Viral	Associate	6185004
Chemical and Drug Induced Liver Injury	Associate	11582965, 19961268, 20170533, 2588214, 32560429, 39414159
Cholangiocarcinoma	Stimulate	22126489
Cholangiocarcinoma	Associate	28618946, 37371133
Cholestasis	Associate	17241866
Cholestasis Intrahepatic	Associate	17241866
Chorea Gravidarum	Associate	35216073
Cleidocranial Dysplasia Forme Fruste With Brachydactyly	Associate	22405009
Clinical Deterioration	Associate	11577132
Cognition Disorders	Associate	36496391
Colonic Neoplasms	Associate	33646276, 34850851
Colorectal Neoplasms	Associate	16755300, 19853488, 23300952, 24886427, 26015410, 31183614, 31560832, 34315829, 37950156, 39940785
Colorectal Neoplasms	Inhibit	37207473
Communication Disorders	Associate	28736993
Congenital Disorder Of Glycosylation Type In	Associate	11583570
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	6982905
Conversion Disorder	Associate	30633749
Coronary Aneurysm	Associate	40141310
Coronary Artery Disease	Associate	23188791
Cough	Associate	19180336, 25425243
COVID 19	Associate	32960480, 33450625, 33504824, 34007243, 34010739, 34087062, 35532162, 36555339
Creutzfeldt Jakob Disease Sporadic	Associate	31957347
Creutzfeldt Jakob Syndrome	Associate	31957347
Crigler Najjar Syndrome	Associate	39881831
Crohn Disease	Associate	18258845, 6969207, 8408656
Cutis Laxa	Associate	8091333
Cystic Disease Of Lung	Associate	10195072
Cystic Fibrosis	Stimulate	22035905
Cystic Fibrosis	Associate	30739910, 33946490, 40508213, 9623690
Death	Associate	34007243, 38203593
Dementia	Associate	17324522, 22392975, 23144969, 35805926
Diabetes Mellitus	Associate	31504048, 33542414
Diabetes Mellitus Type 1	Associate	24527714, 29473705, 31957347, 33542414
Diabetes Mellitus Type 2	Associate	22536212
Diabetic Nephropathies	Associate	22536212
Diastasis Bone	Associate	31597010
Digestive System Diseases	Associate	33646276
Digestive System Neoplasms	Associate	37511325
Disease	Associate	23613495, 35805926
Disease Progression	Associate	22035905
Disease Progression	Stimulate	23613495
Diverticulum	Associate	32666625
Down Syndrome	Associate	22678011, 6157025, 6446238
Drug Related Side Effects and Adverse Reactions	Stimulate	21449040
Drug Related Side Effects and Adverse Reactions	Inhibit	27617337
Dyslipidemias	Associate	21835044
Emphysema	Associate	18353624, 1967187, 20521180, 21067581, 23055718, 23696881, 25098359, 25418171, 25425243, 25635861, 2588214, 26005342, 26141700, 27115949, 27246852 View all (16 more)
Emphysema	Inhibit	28486562, 35146988
End Stage Liver Disease	Associate	19444872
Endometrial Neoplasms	Associate	21305022
Enteritis	Associate	35149871
Environmental Illness	Stimulate	32431271
Fabry Disease	Associate	8089226
Familial Primary Pulmonary Hypertension	Inhibit	17444595
Fatigue	Associate	25955845
Fatty Liver Alcoholic	Associate	31941930
Fibromyalgia	Stimulate	35693781
Fibrosis	Associate	1083909, 11773044, 28178162, 29573137, 30739910, 31517326, 31815349, 34638908, 37569847
Frontotemporal Dementia	Associate	31957347
Frontotemporal Lobar Degeneration	Associate	31957347
Glomerulonephritis IGA	Associate	28406696
Glomerulosclerosis Focal Segmental	Associate	28158993
Glucose Intolerance	Associate	28846711
Graft vs Host Disease	Associate	38203593
Granulomatosis with Polyangiitis	Associate	20827781, 23744167, 8315946
Guillain Barre Syndrome	Associate	18343991
Hashimoto Disease	Associate	37324256, 37455914
Heart Arrest	Associate	33336526
Heart Failure	Associate	18331966, 31644575
Hematoma	Associate	27468101
Hemiplegic migraine familial type 1	Associate	15795222, 28573794
Hemochromatosis	Associate	7615285
Hemorrhage	Associate	2298753, 27468101, 412531
Hemorrhagic Disorders	Associate	412531
Hepatitis B	Associate	21639939
Hepatitis C	Associate	37651384
Hepatitis Chronic	Stimulate	21639939
Histiocytosis with joint contractures and sensorineural deafness	Associate	33284430
HIV Infections	Associate	21263074, 29925662
HIV Infections	Inhibit	27473095
Hodgkin Disease	Associate	32235718, 8966716
Homozygous Familial Hypercholesterolemia	Associate	6333994
Hypertension	Associate	26772976, 32019243, 35216073
Hypertension Pregnancy Induced	Inhibit	30720087
Hyperthyroidism	Associate	32575434
Idiopathic Pulmonary Fibrosis	Associate	32362107, 9493678
Immunoglobulin G4 Related Disease	Associate	34453919
Immunologic Deficiency Syndromes	Inhibit	14624669, 26091018, 32699193
Immunologic Deficiency Syndromes	Associate	23378755, 25961288, 26091018, 2786335, 31832977, 32960480, 34073489, 36797151
Infarction Anterior Cerebral Artery	Associate	28265093
Infections	Inhibit	27354786, 36293378
Infections	Associate	32862719, 9531972
Inflammation	Associate	10518780, 11936950, 15050036, 22035905, 22735536, 24391723, 24527714, 25033447, 25955845, 26174136, 29381093, 29879455, 29894487, 30777133, 31644575 View all (13 more)
Inflammation	Inhibit	19197072, 27076634, 29062067, 30796179, 35216073, 35477570, 36162872
Inflammation	Stimulate	32887613
Influenza Human	Associate	31644575
Intervertebral Disc Degeneration	Associate	16629899, 21832065, 36499685
Intestinal Diseases	Associate	32725203
Intrahepatic Cholestasis of Pregnancy	Associate	34559910
Jaundice Neonatal	Associate	1083909
Joint Dislocations	Associate	20425789
Juvenile Spring Eruption of Ears	Associate	1967187
Kidney Calculi	Stimulate	40253023
Kidney Diseases	Associate	38096952
Kidney Failure Chronic	Associate	22621770
Lead Poisoning Nervous System	Associate	31832977
Leptospirosis	Associate	22554907
Leukemia Monocytic Acute	Associate	10765922
Leukemia Myeloid Chronic Phase	Associate	28117336
Leukoencephalopathies	Associate	24391723
Lewy Body Disease	Associate	35805926
Light Fixation Seizure Syndrome	Associate	36077263
Liver Cirrhosis	Associate	16802007, 19961268, 20855577, 25418171, 27246852, 314754, 31517326, 31597010, 32427833, 34638908, 36107773
Liver Diseases	Associate	1083909, 11577132, 11582965, 1960220, 19961268, 20170533, 23251618, 23935864, 25287719, 2553776, 25843048, 26005342, 26141700, 2822074, 28504839 View all (22 more)
Liver Failure	Associate	23161303, 32887613, 34526035, 56137, 8090762, 8662752
Liver Failure Acute	Associate	29592975
Liver Neoplasms	Associate	28808785, 37511325
Lung Diseases	Inhibit	20054436
Lung Diseases	Associate	20170533, 21060150, 25418171, 25425243, 25938284, 26091018, 26842628, 30517339, 30633749, 306869, 32308050, 32427833, 34217893, 34441020, 34526035 View all (6 more)
Lung Diseases Interstitial	Associate	28425234, 40508213
Lung Diseases Obstructive	Associate	32482783
Lung Injury	Associate	22912729, 30068317, 30223862
Lung Injury	Inhibit	33556558
Lung Neoplasms	Stimulate	16117833
Lung Neoplasms	Inhibit	19608585
Lung Neoplasms	Associate	20521180, 32533048, 36097589, 36287252
Lupus Erythematosus Systemic	Associate	30170966, 30777133, 34646335
Lymphatic Metastasis	Associate	25211665
Lymphatic Metastasis	Stimulate	26015410
Lymphoma	Associate	6982905
Lymphoma Large Cell Anaplastic	Stimulate	17077326
Macular Degeneration	Associate	24828575
Macular Degeneration	Stimulate	33595494
Mediastinal Emphysema	Associate	25287719, 29879455
Meningioma	Associate	23111736
Mental Disorders	Associate	25186548, 30068317
Metabolic Diseases	Associate	22904171, 36476855
Metabolic Syndrome	Associate	26174136
Migraine Disorders	Associate	12527722
Migraine with Aura	Associate	10024348, 12527722, 29470411
Mucocutaneous Lymph Node Syndrome	Associate	40141310
Mucopolysaccharidosis IV	Associate	34200496
Multiple Sclerosis	Associate	21752289, 24391723, 27877030, 306869, 32482783, 37133851
Multiple Sclerosis	Inhibit	34638908
Muscle Neoplasms	Associate	30620616
Myeloperoxidase Deficiency	Associate	12685871
Myopia	Stimulate	39377095
Neonatal hemochromatosis	Associate	11773044, 3873914
Neoplasm Metastasis	Associate	20521180, 30260937, 31606199, 33646276, 38131284
Neoplasms	Associate	12923345, 1739634, 17503403, 19709441, 22896658, 24045656, 24177906, 25105300, 26015410, 26177797, 27617337, 30260937, 30607583, 31183614, 32533048 View all (4 more)
Neoplasms	Inhibit	21449040, 35211754, 37455914
Neoplasms	Stimulate	32232956
Neoplasms Plasma Cell	Associate	1083527, 28504839, 301355
Neoplasms Plasma Cell	Inhibit	2786333
Neoplasms Squamous Cell	Associate	1318806
Nephrosis Lipoid	Associate	28158993
Nephrotic Syndrome	Associate	33674298
Nerve Degeneration	Associate	17324522, 24391723
Neurodegenerative Diseases	Associate	31957347, 35805926
Neuroinflammatory Diseases	Associate	31957347
Neuromyelitis Optica	Associate	40294019
Neurotoxicity Syndromes	Associate	1718986
Neutrophil Immunodeficiency Syndrome	Inhibit	32580239
Non alcoholic Fatty Liver Disease	Associate	31597010, 35654975
Non Muscle Invasive Bladder Neoplasms	Associate	28736993
Obesity	Associate	36831252
Ocular Albinism type 1	Associate	3040726
Optic Neuritis	Associate	24391723
Osteoarthritis	Associate	2787142, 34270864
Osteoporosis	Stimulate	31448632
Osteoporosis	Associate	35349660
Osteosarcoma	Associate	29760609
Ovarian Neoplasms	Associate	3265332, 34997982, 6161137
Pancreatic Neoplasms	Associate	26546433
Pancreatic Neoplasms	Stimulate	36712921
Pancreatitis	Associate	1885078
Pancreatitis Chronic	Associate	1885078
Panniculitis	Associate	28652721, 29592975
Papillary Thyroid Microcarcinoma	Associate	31606199
Parkinson Disease	Associate	23144969, 28256260, 37219663
Pelvic Organ Prolapse	Associate	19763368
Peptic Ulcer	Associate	305385
Periodontitis	Associate	34183495, 36072904
Peritoneal Fibrosis	Associate	28673451
Pneumonia	Associate	31644575
Pneumothorax	Associate	27229674
Polycystic Ovary Syndrome	Associate	22904171, 29050673, 30946770, 37181037
Pre Eclampsia	Associate	18984079, 25031267, 30720087, 32019243, 33916165
Pre Eclampsia	Stimulate	26522099
Prediabetic State	Associate	31504048
Preeclamptic toxemia	Associate	18984079
Premature Birth	Associate	35477570
Prion Diseases	Associate	31957347
Prostatic Neoplasms	Associate	20643827, 22740474
Protein C Deficiency	Associate	1569192
Protein Deficiency	Associate	9623690
Protein Losing Enteropathies	Associate	8408656
Protein S Deficiency	Stimulate	10195072
Protein S Deficiency	Associate	11334395, 16802007, 26243289, 32699193, 9623690
Proteinuria	Associate	32019243
Pterygium	Inhibit	24825356
Pulmonary Disease Chronic Obstructive	Associate	10885432, 14624669, 16476537, 21067581, 21077973, 22161163, 22791992, 23226015, 23990791, 24177906, 24299514, 24975928, 25186548, 26480348, 26620975 View all (39 more)
Pulmonary Embolism	Associate	26005342
Pulmonary Emphysema	Associate	11577132, 1504439, 1905728, 23251618, 2553776, 28652721, 2879934, 29232161, 3038256, 314754, 40508213, 6169740
Purpura Fulminans	Associate	24659849
Renal Insufficiency	Associate	33674298
Renal Insufficiency Chronic	Stimulate	32046176
Respiratory Hypersensitivity	Associate	10933084
Respiratory System Abnormalities	Associate	25955845
Restless Legs Syndrome	Associate	30244532
Retinal Vasculitis	Associate	3874648
Rheumatic Diseases	Associate	2784307
Rheumatic Fever	Associate	334801
Sarcoidosis	Associate	40508213
Schizophrenia	Associate	25487697, 28974776
Sclerema Neonatorum	Associate	6969058
Scoliosis	Associate	20425789
Sepsis	Associate	30873161, 6969058
Severe Acute Respiratory Syndrome	Associate	15378763
Shock Septic	Associate	3484755, 3484756
Signs and Symptoms Respiratory	Associate	19180336, 25425243, 30517339
Skin Diseases	Stimulate	36833193
Smoke Inhalation Injury	Associate	28138235
Soft Tissue Injuries	Associate	38203593
Spastic Paraplegia Hereditary	Associate	31957347
Spherocytosis Type 1	Associate	30244532
Spinocerebellar Ataxia 11	Associate	29619129
Spinocerebellar Ataxias	Associate	11717352, 17020933
Squamous Cell Carcinoma of Head and Neck	Stimulate	26552850, 31253657
Squamous Cell Carcinoma of Head and Neck	Associate	36580011
Stomach Neoplasms	Associate	12923326, 24404153, 25211665, 25677901
Surfactant Dysfunction	Associate	33526882
Synovitis	Associate	30517339
Synucleinopathies	Associate	31957347
Systemic Vasculitis	Associate	28652721
Tarlov Cysts	Associate	25211665
Thromboembolism	Associate	26005342
Thrombophilia	Associate	30633749
Thrombosis	Associate	35263815
Thyroid Cancer Papillary	Associate	27779685, 30214625, 34522174, 37324256, 37455914, 38131284
Thyroid Neoplasms	Associate	26985959, 38131284, 38165228
Tomaculous neuropathy	Associate	1569192, 19483159, 27468101
Tooth Erosion	Associate	2787142
Triple Negative Breast Neoplasms	Stimulate	30260937
Triple Negative Breast Neoplasms	Inhibit	30942417
Trisomy 18 Syndrome	Associate	26752631
Tuberculosis	Stimulate	25187886
Tuberculosis	Associate	35437467
Tuberculosis Pulmonary	Stimulate	33736739
Tuberculosis Pulmonary	Associate	35437467
Urinary Bladder Neoplasms	Associate	25387487
Uveal melanoma	Associate	33120861
Uveitis Anterior	Associate	3261993
Vascular System Injuries	Associate	26772976
Vasculitis	Associate	12685871, 12879958, 28029757, 37004177
Venous Thromboembolism	Associate	34662507, 35263815, 37537391, 37762110
Vitamin D Hydroxylation Deficient Rickets Type 1A	Inhibit	23251618
Williams Syndrome	Associate	20425789

SERPINA1 (serpin family A member 1)