Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6927
Gene name	HNF1 homeobox A
Gene symbol	HNF1A
Synonyms (NCBI Gene)	HNF-1-alphaHNF-1AHNF1HNF1alphaHNF4AIDDM20LFB1MODY3TCF-1TCF1
Chromosome	12
Chromosome location	12q24.31
Summary	The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5`-GTTAATNATTAAC-3`. Defects in this gene are a cause

Show/Hide all (95)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1169288	A>C,T	Benign, risk-factor	Coding sequence variant, missense variant
rs1169305	A>C,G,T	Benign, not-provided, pathogenic	Coding sequence variant, missense variant
rs137853236	C>T	Pathogenic	Coding sequence variant, missense variant
rs137853237	A>G	Pathogenic	Coding sequence variant, missense variant
rs137853238	G>A	Pathogenic	Coding sequence variant, missense variant
rs137853239	C>G,T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs137853240	G>A	Risk-factor	Coding sequence variant, missense variant
rs137853242	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs137853243	C>T	Pathogenic	Coding sequence variant, missense variant
rs137853244	C>T	Pathogenic	Coding sequence variant, missense variant
rs137853245	C>A,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137853246	G>C	Pathogenic	Coding sequence variant, missense variant
rs137853247	G>A,C	Likely-benign, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs150513055	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922576	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs193922577	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs193922578	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs193922580	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs193922582	->CT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs193922587	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922588	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs193922589	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs193922592	A>G,T	Pathogenic, likely-pathogenic	Initiator codon variant, missense variant
rs193922593	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922594	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs193922596	->GCA	Likely-pathogenic	Inframe insertion, coding sequence variant
rs193922597	C>A,T	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs193922598	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922599	GAA>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs193922600	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922602	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922603	G>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs193922604	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922605	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs193922606	C>A,G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs386134267	TGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGG>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs483353044	G>A,C	Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs551484245	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs587776825	C>-,CC,CCC	Pathogenic	Coding sequence variant, frameshift variant
rs587780357	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs753998395	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs754728827	C>T	Pathogenic	Stop gained, coding sequence variant
rs754729248	C>A,G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs762703502	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs765432081	C>T	Pathogenic	Coding sequence variant, missense variant
rs765596650	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs766790596	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs766956862	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs769086289	C>A,T	Pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant
rs771108132	C>T	Pathogenic	Coding sequence variant, missense variant
rs774637975	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs776793516	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs779184183	G>A	Pathogenic	Missense variant, coding sequence variant
rs886039386	C>T	Pathogenic	Coding sequence variant, missense variant
rs886039544	C>T	Pathogenic	Coding sequence variant, missense variant
rs893256143	G>A,T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1057520291	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1057520504	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057520779	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057524908	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1064793150	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131692182	G>A	Likely-pathogenic	Splice donor variant
rs1172328722	G>A	Pathogenic	Coding sequence variant, missense variant
rs1288094664	AAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1315721381	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1463923467	G>A	Pathogenic	Splice acceptor variant
rs1555210478	T>G	Pathogenic	Splice donor variant
rs1555211436	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555211904	G>A	Pathogenic	Splice acceptor variant
rs1555211927	AAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555211975	->GCAT	Pathogenic	Frameshift variant, coding sequence variant
rs1555211999	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555212014	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555212248	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555212359	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555212363	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555212396	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555260207	G>-	Pathogenic	Frameshift variant, initiator codon variant
rs1565883507	C>T	Pathogenic	Stop gained, coding sequence variant
rs1565885524	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1565885935	GCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565886545	G>A,C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1565887211	C>T	Pathogenic	Stop gained, coding sequence variant
rs1566092307	C>T	Pathogenic	Stop gained, coding sequence variant
rs1566092362	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1566092470	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592897526	AAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATCACCGACACCACCAACCTGAGCGCCCTGGCCAGCCTCACGCCCACCAAGCAGGTAAGGTCCAGGCCTGCTGGCCCTCCCTTGGCCTGTGACAGAGCCCCTCACCCCCACATCCCCC>-	Pathogenic	Splice donor variant, intron variant, coding sequence variant, frameshift variant
rs1592898255	CGGCTCAGCGCCAGCCCCAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593054210	CAG>-	Pathogenic	Intron variant, splice acceptor variant
rs1593058338	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1593058932	G>CC	Pathogenic	Coding sequence variant, frameshift variant
rs1593060859	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593060890	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593060912	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1593060966	AGC>GGT	Likely-pathogenic	Stop gained, coding sequence variant

Show/Hide all (44)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004646	hsa-miR-194-5p	Review	20029422
MIRT044838	hsa-miR-320a	CLASH	23622248
MIRT437966	hsa-miR-15b-5p	qRT-PCRLuciferase reporter assayWestern blot	24705650
MIRT437966	hsa-miR-15b-5p	qRT-PCRLuciferase reporter assayWestern blot	24705650
MIRT437966	hsa-miR-15b-5p	qRT-PCRLuciferase reporter assayWestern blot	24705650
MIRT437966	hsa-miR-15b-5p	qRT-PCRLuciferase reporter assayWestern blot	24705650
MIRT737280	hsa-miR-192-5p	qRT-PCR	33024199
MIRT1050535	hsa-miR-1292	CLIP-seq
MIRT1050536	hsa-miR-214	CLIP-seq
MIRT1050537	hsa-miR-3619-5p	CLIP-seq
MIRT1050538	hsa-miR-3670	CLIP-seq
MIRT1050539	hsa-miR-4291	CLIP-seq
MIRT1050540	hsa-miR-4330	CLIP-seq
MIRT1050541	hsa-miR-4471	CLIP-seq
MIRT1050542	hsa-miR-4700-3p	CLIP-seq
MIRT1050543	hsa-miR-635	CLIP-seq
MIRT1050544	hsa-miR-761	CLIP-seq
MIRT1050545	hsa-miR-922	CLIP-seq
MIRT2011604	hsa-miR-2861	CLIP-seq
MIRT2011605	hsa-miR-3192	CLIP-seq
MIRT2011606	hsa-miR-3675-5p	CLIP-seq
MIRT2011607	hsa-miR-661	CLIP-seq
MIRT2243768	hsa-miR-1233	CLIP-seq
MIRT2243769	hsa-miR-4450	CLIP-seq
MIRT2243770	hsa-miR-4747-5p	CLIP-seq
MIRT2243771	hsa-miR-4768-3p	CLIP-seq
MIRT2243772	hsa-miR-4786-3p	CLIP-seq
MIRT2243773	hsa-miR-665	CLIP-seq
MIRT2243774	hsa-miR-671-5p	CLIP-seq
MIRT2389071	hsa-miR-4290	CLIP-seq
MIRT2389072	hsa-miR-4757-5p	CLIP-seq
MIRT2682353	hsa-miR-15a	CLIP-seq
MIRT2682354	hsa-miR-15b	CLIP-seq
MIRT2682355	hsa-miR-16	CLIP-seq
MIRT2682356	hsa-miR-1915	CLIP-seq
MIRT2682357	hsa-miR-195	CLIP-seq
MIRT1050536	hsa-miR-214	CLIP-seq
MIRT1050537	hsa-miR-3619-5p	CLIP-seq
MIRT2682358	hsa-miR-424	CLIP-seq
MIRT1050539	hsa-miR-4291	CLIP-seq
MIRT2682359	hsa-miR-4690-5p	CLIP-seq
MIRT2682360	hsa-miR-497	CLIP-seq
MIRT1050544	hsa-miR-761	CLIP-seq
MIRT1050545	hsa-miR-922	CLIP-seq

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Transcription factor	Regulation	Reference
HNF4A	Unknown	9792724
RXRA	Unknown	11027556
ZHX2	Unknown	18194454

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	12453420, 15961790
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001889	Process	Liver development	IEA
GO:0003677	Function	DNA binding	IDA	1677179, 1989880, 10333057, 12530534
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	1989880, 11980910, 12530534
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	1677179, 11980910, 14500717, 19264593, 21988832, 33961781, 35140242, 35512704
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12530534, 15355349
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	12530534, 15355349
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	10330009
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0030073	Process	Insulin secretion	IEA
GO:0030073	Process	Insulin secretion	IMP	10333057
GO:0031016	Process	Pancreas development	IEA
GO:0032991	Component	Protein-containing complex	IDA	11980910
GO:0035565	Process	Regulation of pronephros size	IMP	15355349
GO:0035623	Process	Renal D-glucose absorption	IMP	11269503
GO:0042593	Process	Glucose homeostasis	IMP	11269503, 15277395
GO:0042803	Function	Protein homodimerization activity	IPI	1677179
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	1989880, 11980910, 12453420, 12530534
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046323	Process	D-glucose import	IMP	11269503
GO:0046982	Function	Protein heterodimerization activity	IDA	12530534
GO:0046983	Function	Protein dimerization activity	IPI	12453420
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IEA
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IGI	15355349

MIM	HGNC	e!Ensembl
142410	11621	ENSG00000135100

P20823

Protein name

Hepatocyte nuclear factor 1-alpha (HNF-1-alpha) (HNF-1A) (Liver-specific transcription factor LF-B1) (LFB1) (Transcription factor 1) (TCF-1)

Protein function

Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver (By similarity). Binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:10966642, PubMed:12453420)

PDB

1IC8 , 2GYP , 8PI7 , 8PI8 , 8PI9 , 8PIA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04814	HNF-1_N	8 → 168	Hepatocyte nuclear factor 1 (HNF-1), N terminus	Family
PF04812	HNF-1B_C	282 → 540	Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus	Family
PF04813	HNF-1A_C	542 → 630	Hepatocyte nuclear factor 1 (HNF-1), alpha isoform C terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Liver.

Sequence

MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLDKGESCGGGRGELAEL
PNGLGETRGSEDETDDDGEDFTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKMVK
SYLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREVAQQFTHA
GQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAE
CIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPPGPGPGPALP
AHSSPGLPPPALSPSKVHGVRYGQPATSETAEVPSSSGGPLVTVSTPLHQVSPTGLEPSH
SLLSTEAKLVSAAGGPLPPVSTLTALHSLEQTSPGLNQQPQNLIMASLPGVMTIGPGEPA
SLGPTFTNTGASTLVIGLASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPV
QSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLPQTMLITDTTNLSALASLTPTK
QVFTSDTEASSESGLHTPASQATTLHVPSQDPAGIQHLQPAHRLSASPTVSSSSLVLYQS
SDSSNGQSHLLPSNHSVIETFISTQMASSSQ

Sequence length

631

Interactions

View interactions

	KEGG
	Maturity onset diabetes of the young

1266

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Clear cell carcinoma of kidney	Pathogenic	rs587776825	RCV000016063
Diabetes mellitus	Pathogenic; Likely pathogenic	rs893256143, rs765432081, rs779184183, rs1877113317, rs1877168655, rs1876671395, rs768753432, rs199890776	RCV001175316 RCV001175312 RCV001175315 RCV001172532 RCV001172533 RCV001175313 RCV001175314 RCV001175320
Diabetes mellitus type 1	Pathogenic	rs587780357, rs587776825	RCV000117232 RCV000117225
DiGeorge syndrome	Pathogenic	rs587776825	RCV003445070
Hepatic adenomas, familial	Pathogenic	rs587776825, rs137853238, rs1057520291	RCV000022617 RCV005621851 RCV005645084
Hepatocellular carcinoma	Pathogenic	rs1057520291	RCV005900832
HNF1A-related disorder	Likely pathogenic; Pathogenic	rs2135832689, rs1180119907, rs1475566248, rs587780357, rs1555211935, rs749673816, rs2499998322, rs2500010485, rs2135839897, rs137853238, rs2135851715, rs2500004981, rs2499995743, rs1876968297, rs1057520291 View all (8 more)	RCV003416457 RCV004753394 RCV003892878 RCV004752747 RCV003403728 RCV004753547 RCV003402464 RCV003418981 RCV004731539 RCV004752708 RCV003909275 RCV003914469 RCV003971685 RCV004731663 RCV004752888 RCV003983038 RCV004752890 RCV004730957 RCV003424057 RCV003403166 RCV004752728 RCV003928186 RCV003392554
Hyperinsulinism due to HNF1A deficiency	Pathogenic	rs137853245	RCV002254266
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive	Likely pathogenic	rs2135854461	RCV002276524
Maturity-onset diabetes of the young	Pathogenic; Likely pathogenic	rs1249563793, rs1877096238, rs2135847490, rs2135854451, rs2135820413, rs1180119907, rs2135819325, rs587780357, rs1057520291, rs2135832456, rs371717826, rs2135819737, rs1399164820, rs749673816, rs2500005690 View all (104 more)	RCV002464450 RCV002319739 RCV001526900 RCV004690129 RCV003317532 RCV003339756 RCV002440900 RCV002354301 RCV002051968 RCV002052041 RCV004690266 RCV002352955 RCV002222898 RCV003329438 RCV002400403 RCV004017918 RCV002455125 RCV002337808 RCV002341022 RCV002344408 RCV002362483 RCV002430383 RCV002374291 RCV002390074 RCV002465366 RCV001248918 RCV002418093 RCV003317670 RCV003330061 RCV003330063 RCV003330065 RCV003330066 RCV003330067 RCV003344183 RCV003388531 RCV003479762 RCV004783079 RCV003577091 RCV001506982 RCV001526899 RCV002464065 RCV002051786 RCV002326678 RCV002463589 RCV005237382 RCV002464066 RCV004018140 RCV001526667 RCV002338986 RCV002365490 RCV002356548 RCV002051850 RCV002463446 RCV002463447 RCV003298551 RCV002464213 RCV002319506 RCV002376922 RCV000677301 RCV002329196 RCV002329217 RCV002329216 RCV002319512 RCV002319513 RCV002319514 RCV002319515 RCV002463451 RCV002463715 RCV002329221 RCV002319520 RCV002463717 RCV002051863 RCV002326696 RCV002326697 RCV002463433 RCV002326703 RCV002464080 RCV002326705 RCV002326706 RCV002319430 RCV002319432 RCV000030505 RCV002463434 RCV002326709 RCV002326710 RCV002464081 RCV002330997 RCV002331096 RCV002319540 RCV004822159 RCV002331315 RCV002464290 RCV002319567 RCV002319570 RCV002464295 RCV002463457 RCV002332523 RCV002319569 RCV002386312 RCV002319609 RCV002463460 RCV005408621 RCV002319610 RCV002319611 RCV002320206 RCV002463459 RCV002319613 RCV002319612 RCV003490031 RCV002327378 RCV002319669 RCV002319670 RCV002319671 RCV001194005 RCV002463787 RCV002327605 RCV002464418 RCV002319684 RCV003329387 RCV002241648 RCV002319686 RCV002319690 RCV002319691 RCV002319694
Maturity-onset diabetes of the young type 3	Pathogenic; Likely pathogenic	rs1249563793, rs2135841238, rs2135847592, rs2135854451, rs2135841592, rs766191969, rs886039386, rs587780357, rs2135839643, rs1876081310, rs2135832632, rs1877116749, rs2500005524, rs775893674, rs2500005690 View all (68 more)	RCV003333155 RCV001527410 RCV001527411 RCV002285494 RCV002285498 RCV002285499 RCV001818100 RCV002285267 RCV002466721 RCV002227429 RCV002466752 RCV002285542 RCV002285543 RCV002285544 RCV002285545 RCV002285546 RCV002285548 RCV002285549 RCV003319948 RCV003319953 RCV003333891 RCV003494538 RCV000016062 RCV000016065 RCV000016066 RCV000016067 RCV002288493 RCV000016070 RCV000016079 RCV000016080 RCV000016081 RCV000016082 RCV000016083 RCV000016084 RCV004560522 RCV001249012 RCV004719817 RCV002285329 RCV002472310 RCV003319352 RCV002285337 RCV002272261 RCV000495949 RCV000502914 RCV000501374 RCV000503455 RCV006249646 RCV002285352 RCV002285353 RCV000030476 RCV000030478 RCV000030483 RCV000030489 RCV000030495 RCV000030497 RCV000030498 RCV000030501 RCV000030504 RCV002285260 RCV000030506 RCV000030507 RCV000030511 RCV000030512 RCV000030513 RCV000625678 RCV003319400 RCV001248948 RCV000709725 RCV000722049 RCV002285409 RCV000754807 RCV000754812 RCV000988922 RCV003485671 RCV004559831 RCV004797889 RCV005638544 RCV002285453 RCV001197559 RCV001248888 RCV001248892 RCV001248943 RCV001248991 RCV001248994 RCV001253694
Monogenic diabetes	Pathogenic; Likely pathogenic	rs1249563793, rs2135841238, rs2135854451, rs2135832753, rs2135820404, rs2135841224, rs1566092362, rs2135841592, rs2135832689, rs2135841113, rs2135832685, rs2135832675, rs2135841104, rs2135841769, rs2135832668 View all (146 more)	RCV001796448 RCV001810509 RCV002274204 RCV005054372 RCV001794537 RCV001794540 RCV001794541 RCV001794542 RCV001794543 RCV001794544 RCV001794548 RCV001794549 RCV001794550 RCV001794551 RCV001794552 RCV001794553 RCV001794555 RCV001794556 RCV001794560 RCV001794564 RCV001794565 RCV001810527 RCV001810528 RCV001810529 RCV001810533 RCV001810534 RCV002222075 RCV002074376 RCV003446924 RCV005054376 RCV004733383 RCV002260404 RCV002222076 RCV001843398 RCV001843399 RCV001843400 RCV001843401 RCV001843402 RCV001843403 RCV001843405 RCV002222019 RCV002260406 RCV003493884 RCV002208718 RCV002208720 RCV002208723 RCV002208725 RCV002208726 RCV002208727 RCV002208728 RCV003326011 RCV002222080 RCV002222082 RCV002222083 RCV002222084 RCV002222086 RCV002222088 RCV002222091 RCV002222092 RCV002222093 RCV002222101 RCV002222102 RCV002222103 RCV002222104 RCV002222105 RCV002222106 RCV002222107 RCV002222109 RCV002222112 RCV002222115 RCV002222116 RCV002222119 RCV002250401 RCV002250403 RCV002250404 RCV002250407 RCV002250409 RCV002250410 RCV002250411 RCV002250412 RCV002250415 RCV002250417 RCV002250418 RCV002250420 RCV002260477 RCV002260478 RCV002260480 RCV002260481 RCV002260482 RCV002260483 RCV002274260 RCV002274266 RCV002274268 RCV004572114 RCV003318512 RCV003445171 RCV003326016 RCV002468907 RCV002468908 RCV004733522 RCV005233026 RCV002222028 RCV002222027 RCV005230487 RCV005402028 RCV003330362 RCV003330363 RCV003330365 RCV005402031 RCV003481521 RCV003494035 RCV003494037 RCV003494038 RCV003494039 RCV003494040 RCV003494041 RCV003494042 RCV003494043 RCV004733624 RCV004798049 RCV002221997 RCV001810399 RCV001794449 RCV000445525 RCV001794450 RCV002221998 RCV002221999 RCV001794451 RCV001248962 RCV003885441 RCV004574971 RCV004574972 RCV004574973 RCV004574974 RCV004574976 RCV002222031 RCV002222032 RCV002222034 RCV002222035 RCV002222033 RCV000445512 RCV000445449 RCV001810449 RCV001810450 RCV002250367 RCV001810451 RCV001810452 RCV001810453 RCV001843360 RCV002222037 RCV001796089 RCV002222038 RCV002222039 RCV002259985 RCV002250371 RCV002259986 RCV002250372 RCV002222043 RCV002222045 RCV002222047 RCV002222046 RCV001810403 RCV002222002 RCV002250353 RCV002222003 RCV001843354 RCV002222004 RCV002222005 RCV002222007 RCV002250356 RCV002222009 RCV002222010 RCV001810406 RCV002222012 RCV001794464 RCV001248911 RCV001810462 RCV001843362 RCV002222048 RCV002066999 RCV001796178 RCV005054257 RCV001810483 RCV002274095 RCV001796196 RCV001796203 RCV001810489 RCV001810490 RCV003994190 RCV003446599 RCV002260132 RCV004733216 RCV001810500 RCV005401815 RCV001796420 RCV004570669
Neoplasm	Likely pathogenic; Pathogenic	rs1593060859	RCV005232023
Type 1 diabetes mellitus 20	Pathogenic	rs1249563793, rs766191969, rs483353044, rs587776825, rs137853238, rs1566092470	RCV001335402 RCV002466697 RCV002466818 RCV001255183 RCV000016068 RCV000016076

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs3213547	RCV005921869
Breast carcinoma	Benign	rs1169305	RCV001777123
Chromophobe renal cell carcinoma	Benign	rs137853247	RCV000016088
Diabetes mellitus type 2, susceptibility to	Uncertain significance	rs137853240	RCV000016071
Gestational diabetes	Benign	rs1169309	RCV002221525
Insulin resistance, susceptibility to	Benign; Likely benign	rs1169288	RCV000016074
Insulin-resistant diabetes mellitus	Conflicting classifications of pathogenicity	rs55834942	RCV002226669
Malignant tumor of esophagus	Benign	rs3213547	RCV005921870
Maturity-onset diabetes of the young type 1	Uncertain significance	rs759717253	RCV001248995
Nonpapillary renal cell carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain risk allele; Uncertain significance	rs34056805, rs2259820, rs2464196, rs2464195, rs55834942, rs1800574, rs1169289, rs56348580, rs146686581, rs115080759, rs1169288, rs561269721, rs78772552, rs80051981, rs193922606, rs1002380887 View all (1 more)	RCV003315667 RCV003315668 RCV003315669 RCV003315670 RCV003315671 RCV003315672 RCV003315673 RCV003315674 RCV003315758 RCV003315759 RCV003315502 RCV003316663 RCV003315518 RCV003315519 RCV001788404 RCV001292963
Ovarian cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	rs1800574, rs944413465, rs193922591	RCV003153378 RCV003154737 RCV003153306
Reduced delayed hypersensitivity	Benign	rs1169305	RCV001775069
SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF	Benign; Likely benign	rs1169288	RCV000016075
Symphalangism affecting the proximal phalanx of the 4th finger	Benign	rs1169305	RCV001775070
Thymoma	Benign	rs3213547	RCV005921871
Type 2 diabetes mellitus	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs544842497, rs2259820, rs2464196, rs2464195, rs1169289, rs56348580, rs139016696, rs483353044, rs1169288, rs137853242, rs1169310, rs754729248, rs202039659, rs193922584, rs1265717222, rs751368921 View all (1 more)	RCV003227959 RCV002226666 RCV002226667 RCV002226668 RCV002226670 RCV002226671 RCV002467574 RCV000122743 RCV002226650 RCV002467498 RCV002222485 RCV002248729 RCV003335434 RCV003227611 RCV001170062 RCV002468213
Uterine carcinosarcoma	Benign	rs1169302	RCV005904353

Show/Hide Text Mining Associations (130)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	21677039
Adenocarcinoma	Associate	24000294, 33024199, 33094962
Adenoma	Associate	17049664, 34232602
Adenoma	Inhibit	27015136
Adenoma Liver Cell	Associate	16496320, 17049664, 17379603, 20393147, 21975049, 23707370, 26776850, 26961851, 26997447, 27197745, 29256857, 30121369, 31483937, 31570768
Adenomatosis Pulmonary	Associate	18720549
Adenomatous Polyposis Coli	Associate	17049664
alpha 1 Antitrypsin Deficiency	Associate	26174136
alpha Fetoprotein Deficiency	Associate	31915469
Anodontia	Associate	27197745
Ataxia	Associate	33783914
Barrett Esophagus	Associate	19468668, 22016432
Bartter Syndrome Type 3 with Hypocalciuria	Associate	19389850
beta Thalassemia	Associate	19228875
Bipolar Disorder	Associate	36463340
Blood Coagulation Disorders	Associate	20031592
Brain Neoplasms	Associate	23707370, 37423059
Breast Neoplasms	Stimulate	32928877
Carcinogenesis	Associate	24000294, 25793983, 26997447, 38062804
Carcinogenesis	Inhibit	34037532
Carcinoid Tumor	Associate	39581377
Carcinoma Hepatocellular	Associate	1331985, 21975049, 23391410, 23707370, 25516669, 26205181, 26997447, 27469031, 29256857, 30121369, 30155490, 30602592, 31173963, 31570105, 31915469 View all (4 more)
Carcinoma Non Small Cell Lung	Associate	27981551, 28230015
Carcinoma Pancreatic Ductal	Associate	27520560, 35121522, 36825600, 40149962
Carcinoma Pancreatic Ductal	Stimulate	33214606
Carcinoma Renal Cell	Associate	36510186
Cerebral Infarction	Associate	27460564, 28035729
Cerebral Small Vessel Diseases	Associate	27460564
Cholangiocarcinoma	Associate	35550144
Cholelithiasis	Associate	40428345
Colonic Neoplasms	Associate	15492751
Colonic Neoplasms	Stimulate	38062804
Colorectal Neoplasms	Associate	10514393, 20096102, 35184384, 36230970, 38062804
Colorectal Neoplasms	Stimulate	34719039
Congenital Abnormalities	Associate	34035238
Congenital Hyperinsulinism	Associate	22802087, 23345197, 23869231, 29739729
Coronary Artery Disease	Associate	19198612, 20031592, 25057215, 26209006, 28035729, 33004870, 35866398, 40485517
Coronary Artery Disease	Stimulate	26209006
Coronary Disease	Associate	20031592, 21203500, 22152955
Crigler Najjar Syndrome	Associate	31142299
Crigler Najjar syndrome type 2	Associate	31142299
Cytomegalovirus Infections	Associate	34253456
Dehydration	Associate	23610083
Developmental Disabilities	Associate	22523087
Diabetes Gestational	Associate	29947923, 31825269
Diabetes Mellitus	Associate	11904371, 12453420, 18297260, 18586913, 18829458, 19490620, 19933992, 20581827, 20705777, 20716378, 22413961, 22665711, 22802087, 22859960, 23274891 View all (51 more)
Diabetes Mellitus	Stimulate	32238361, 34250910
Diabetes Mellitus Type 1	Associate	18593771, 19228875, 21700917, 25082184, 28938416, 29597128, 30507613, 31365591, 36418577, 40004501
Diabetes Mellitus Type 2	Associate	10585442, 10606640, 10696112, 11296231, 11904371, 15139733, 15687377, 16223942, 16936201, 18297260, 18391435, 18439548, 18492944, 18498634, 18586913 View all (81 more)
Diabetes Mellitus Type 2	Stimulate	32238361
Diabetes Mellitus Type 2	Inhibit	37669939
Diabetic Ketoacidosis	Associate	23610083, 25837654
Diabetic Neuropathies	Associate	23551881, 35122907
Down Syndrome	Associate	28590426
Dyslipidemias	Associate	25057215, 35957821
Familial cylindromatosis	Associate	24000294
Fatty Liver	Associate	16496320, 17379603, 21975049
Fibrolamellar hepatocellular carcinoma	Associate	27015136
Fibrosis	Associate	31992114
Gastro enteropancreatic neuroendocrine tumor	Associate	34037532
Glaucoma Open Angle	Associate	36727359
Glioblastoma	Associate	26817999, 31410187
Glucose Metabolism Disorders	Associate	22993150
Gout	Associate	35524416
Granuloma Annulare	Associate	35551682
Hemangioblastoma	Associate	36510186
Hemorrhage	Associate	31483937
Hepatic Adenomas Familial	Associate	25569436, 27015136, 34232602
Hepatitis B Chronic	Associate	16254374
Hepatitis C	Inhibit	22993150
Hepatoblastoma	Associate	33368532
Hyperglycemia	Associate	20705777, 31576961, 36178555
Hyperinsulinism	Associate	22802087, 25555642, 29493090
Hyperlipidemias	Associate	35866398
Hypertension	Associate	25057215
Hypertriglyceridemia	Associate	19490620, 25057215
Hypoglycemia	Associate	22341299
Hypomagnesemia primary	Associate	19389850
Hypoxia Brain	Associate	31410187
Immunologic Deficiency Syndromes	Associate	35918471
Inflammation	Associate	20113359, 21203500, 33334146
Insulin Resistance	Associate	11904371, 32375679, 34951657
Insulinoma	Associate	8945471, 9822613
Kidney Neoplasms	Associate	33328429
Leukopenia	Associate	34253456
Lipid Metabolism Disorders	Associate	16223942
Liver Failure	Associate	21975049, 29067470, 34949673
Liver Neoplasms	Associate	30155490
Lung Neoplasms	Associate	28230015, 8096192
Lymphatic Metastasis	Associate	27981551
Lymphatic Metastasis	Stimulate	29762827
Malformations of Cortical Development Group I	Associate	39273406
Mason Type Diabetes	Associate	10585442, 15139733, 16223942, 18492944, 18593771, 19672314, 19794065, 20705777, 21242637, 21270186, 21498636, 21677039, 21700917, 23274891, 23306198 View all (11 more)
Mason Type Diabetes	Stimulate	20724646, 39420905
Maturity Onset Diabetes of the Young Type 1	Associate	30191603
Maturity Onset Diabetes of the Young Type 2	Associate	22341299
Maturity Onset Diabetes of the Young Type 3	Associate	10606640, 11296231, 15687377, 18593771, 19754856, 20393147, 21236713, 21677039, 22413961, 22432796, 22672869, 23607861, 23707370, 24915262, 25569436 View all (13 more)
Maturity Onset Diabetes of the Young Type 8 with Exocrine Dysfunction	Associate	18593771
Meningioma	Associate	18297260
Metabolic Syndrome	Associate	18439548, 26174136, 27142837
Muscle Hypotonia	Associate	33783914
Myotonic Dystrophy	Associate	31576961
Necrobiosis Lipoidica	Associate	35551682
Neoplasm Metastasis	Associate	28230015, 33214606, 33371430, 34719039
Neoplasm Metastasis	Inhibit	34037532
Neoplasms	Associate	14633602, 18433021, 21203500, 26205181, 26776850, 26997447, 27469031, 27981551, 29324546, 29762827, 30121369, 33752475, 35184384, 36230970, 36825600, 40311306 View all (1 more)
Neoplasms	Inhibit	25233928, 25793983, 35327967
Neuroendocrine Tumors	Associate	23127113, 30315258
Non alcoholic Fatty Liver Disease	Associate	27836672
Obesity	Associate	24062323, 30764545
Pancreatic Neoplasms	Associate	21498636, 23056513, 25233928, 25793983, 25910082, 26854454, 27520560, 29107594, 33371430, 36825600, 40149962
Pancreatic Neoplasms	Inhibit	28938416, 33214606
Pancreatic Neoplasms	Stimulate	32072180
Pancreatitis	Associate	35257744
Pancreatitis Chronic	Associate	28556356, 34828289
Polycystic Ovary Syndrome	Associate	28299548
Pre Eclampsia	Associate	31825269
Rectal Neoplasms	Associate	38062804
Renal cysts and diabetes syndrome	Associate	22432796
Renal hypouricemia	Stimulate	32375679
Renal Insufficiency	Associate	31844173
Smoke Inhalation Injury	Associate	35866398
Squamous Cell Carcinoma of Head and Neck	Associate	30404566, 33315534
Stomach Diseases	Inhibit	34037532
Stomach Neoplasms	Associate	26472090, 28640116, 36430456
Thrombosis	Associate	33334146
Triple Negative Breast Neoplasms	Associate	28590426
Urinary Bladder Neoplasms	Stimulate	29762827
Uterine Cervical Neoplasms	Associate	36380687
Vascular Diseases	Associate	20716378

HNF1A (HNF1 homeobox A)