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	5308
Gene name	Paired like homeodomain 2
Gene symbol	PITX2
Synonyms (NCBI Gene)	ARP1ASGD4Brx1IDG2IGDSIGDS2IHG2IRID2Otlx2PTX2RGSRIEGRIEG1RS
Chromosome	4
Chromosome location	4q25
Summary	This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in

Show/Hide all (25)

SNP ID	Visualize variation	Clinical significance	Consequence
rs6533526	G>A	Benign, pathogenic	3 prime UTR variant
rs104893857	A>T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs104893858	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs104893859	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs104893860	C>T	Pathogenic	Stop gained, coding sequence variant
rs104893861	C>T	Pathogenic	Missense variant, coding sequence variant
rs104893862	C>T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs121909248	G>A	Pathogenic	Missense variant, coding sequence variant
rs121909249	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs138163892	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs141176394	T>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs387906810	T>C	Pathogenic	Coding sequence variant, missense variant
rs772800095	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs1057519483	GTGGACATGTCCGGGTAGCGGT>-	Pathogenic	5 prime UTR variant, coding sequence variant, initiator codon variant, frameshift variant
rs1057519484	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1057519487	GAGCCCGGGACGCCTGTCACTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057519488	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057519489	A>T	Pathogenic	Coding sequence variant, stop gained
rs1198152064	T>C,G	Pathogenic	Intron variant
rs1553922583	T>A,C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1553922891	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553922901	G>A	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs1560590094	C>G	Pathogenic	Intron variant
rs1578446544	G>C	Pathogenic	Coding sequence variant, stop gained
rs1578450728	A>C	Pathogenic	Splice donor variant

Show/Hide all (21)

miRTarBase ID	miRNA	Experiments	Reference
MIRT555582	hsa-miR-494-3p	PAR-CLIP	21572407
MIRT555581	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT555580	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT555579	hsa-miR-377-3p	PAR-CLIP	21572407
MIRT555577	hsa-miR-4517	PAR-CLIP	21572407
MIRT555578	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT555576	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT555574	hsa-miR-5692b	PAR-CLIP	21572407
MIRT555575	hsa-miR-5692c	PAR-CLIP	21572407
MIRT555573	hsa-miR-153-5p	PAR-CLIP	21572407
MIRT555582	hsa-miR-494-3p	PAR-CLIP	21572407
MIRT555581	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT555580	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT555579	hsa-miR-377-3p	PAR-CLIP	21572407
MIRT555577	hsa-miR-4517	PAR-CLIP	21572407
MIRT555578	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT555576	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT555574	hsa-miR-5692b	PAR-CLIP	21572407
MIRT555575	hsa-miR-5692c	PAR-CLIP	21572407
MIRT555573	hsa-miR-153-5p	PAR-CLIP	21572407
MIRT2069710	hsa-miR-498	CLIP-seq

Show/Hide all (99)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	19174163
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	9685346, 12612071
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	IDA	9685346
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	16449236
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001570	Process	Vasculogenesis	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0002074	Process	Extraocular skeletal muscle development	IEA
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003171	Process	Atrioventricular valve development	IEA
GO:0003253	Process	Cardiac neural crest cell migration involved in outflow tract morphogenesis	IEA
GO:0003253	Process	Cardiac neural crest cell migration involved in outflow tract morphogenesis	ISS
GO:0003350	Process	Pulmonary myocardium development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	11301317, 15385555
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	9685346, 12612071, 15466416, 16449236, 19174163, 23088713, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	16449236, 19251162
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IDA	15385555
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	11301317
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	15385555, 23975681
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007368	Process	Determination of left/right symmetry	ISS
GO:0007507	Process	Heart development	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	ISS
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0021763	Process	Subthalamic nucleus development	IEA
GO:0021855	Process	Hypothalamus cell migration	IEA
GO:0021983	Process	Pituitary gland development	IEA
GO:0030324	Process	Lung development	IEA
GO:0030334	Process	Regulation of cell migration	IEA
GO:0031076	Process	Embryonic camera-type eye development	IEA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035315	Process	Hair cell differentiation	IC	19251162
GO:0035886	Process	Vascular associated smooth muscle cell differentiation	IEA
GO:0035993	Process	Deltoid tuberosity development	IEA
GO:0035993	Process	Deltoid tuberosity development	IMP	18312615
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042476	Process	Odontogenesis	IEA
GO:0042476	Process	Odontogenesis	IMP	14630904
GO:0042802	Function	Identical protein binding	IPI	12612071
GO:0042803	Function	Protein homodimerization activity	IPI	12612071, 19174163
GO:0043010	Process	Camera-type eye development	IMP	9618168
GO:0043021	Function	Ribonucleoprotein complex binding	IDA	19174163
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9685346, 15466416, 19174163, 19251162
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048536	Process	Spleen development	IEA
GO:0048536	Process	Spleen development	ISS
GO:0048557	Process	Embryonic digestive tract morphogenesis	IEA
GO:0048731	Process	System development	IEA
GO:0048738	Process	Cardiac muscle tissue development	IEA
GO:0051219	Function	Phosphoprotein binding	IPI	19174163
GO:0055007	Process	Cardiac muscle cell differentiation	IEA
GO:0055009	Process	Atrial cardiac muscle tissue morphogenesis	IEA
GO:0055015	Process	Ventricular cardiac muscle cell development	IEA
GO:0055123	Process	Digestive system development	IEA
GO:0060126	Process	Somatotropin secreting cell differentiation	TAS	10372733
GO:0060127	Process	Prolactin secreting cell differentiation	TAS	10372733
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060460	Process	Left lung morphogenesis	IEA
GO:0060577	Process	Pulmonary vein morphogenesis	IEA
GO:0060578	Process	Superior vena cava morphogenesis	IEA
GO:0060971	Process	Embryonic heart tube left/right pattern formation	IEA
GO:0060971	Process	Embryonic heart tube left/right pattern formation	ISS
GO:0061031	Process	Endodermal digestive tract morphogenesis	IEA
GO:0061072	Process	Iris morphogenesis	IMP	9437321
GO:0061325	Process	Cell proliferation involved in outflow tract morphogenesis	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	9685346, 12612071, 15466416, 16449236
GO:0070986	Process	Left/right axis specification	IEA
GO:0070986	Process	Left/right axis specification	ISS
GO:0140297	Function	DNA-binding transcription factor binding	IPI	16449236
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
601542	9005	ENSG00000164093

Q99697

Protein name

Pituitary homeobox 2 (ALL1-responsive protein ARP1) (Homeobox protein PITX2) (Paired-like homeodomain transcription factor 2) (RIEG bicoid-related homeobox transcription factor) (Solurshin)

Protein function

May play a role in myoblast differentiation. When unphosphorylated, associates with an ELAVL1-containing complex, which stabilizes cyclin mRNA and ensuring cell proliferation. Phosphorylation by AKT2 impairs this association, leading to CCND1 mR

PDB

2L7F , 2L7M , 2LKX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	86 → 142	Homeodomain	Domain
PF03826	OAR	275 → 292	OAR motif	Motif

Sequence

METNCRKLVSACVQLGVQPAAVECLFSKDSEIKKVEFTDSPESRKEAASSKFFPRQHPGA
NEKDKSQQGKNEDVGAEDPSKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAV
WTNLTEARVRVWFKNRRAKWRKRERNQQAELCKNGFGPQFNGLMQPYDDMYPGYSYNNWA
AKGLTSASLSTKSFPFFNSMNVNPLSSQSMFSPPNSISSMSMSSSMVPSAVTGVPGSSLN
SLNNLNNLSSPSLNSAVPTPACPYAPPTPPYVYRDTCNSSLASLRLKAKQHSSFGYASVQ
NPASNLSACQYAVDRPV

Sequence length

317

Interactions

View interactions

	KEGG		Reactome
	TGF-beta signaling pathway		TFAP2 (AP-2) family regulates transcription of other transcription factors

692

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Anterior segment dysgenesis	Pathogenic; Likely pathogenic	rs121909248, rs104893862, rs1728875550	RCV001200029 RCV001200039 RCV001200027
Anterior segment dysgenesis 4	Likely pathogenic; Pathogenic	rs1057519485, rs2110435742, rs951710742, rs1051887, rs2110431524, rs2110432091, rs2476657179, rs2476650016, rs1057519484, rs2476657637, rs1198152064, rs121909248, rs104893861, rs104893862, rs2110435645 View all (11 more)	RCV001379880 RCV001383407 RCV001989873 RCV001922553 RCV001942226 RCV001956173 RCV003774801 RCV005254053 RCV002651846 RCV002871069 RCV002512913 RCV000008557 RCV000008558 RCV005222673 RCV003807732 RCV003809956 RCV000543429 RCV000560514 RCV000792252 RCV000801898 RCV000820117 RCV001047882 RCV001039241 RCV001217543 RCV001206264 RCV001269467
ANTERIOR SEGMENT DYSGENESIS 4, PETERS ANOMALY SUBTYPE	Pathogenic	rs1553922583	RCV000008559
Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities	Likely pathogenic; Pathogenic	rs2476650016	RCV002291347
Axenfeld-Rieger syndrome type 1	Likely pathogenic; Pathogenic	rs1057519485, rs2110435742, rs2110435639, rs2110435882, rs951710742, rs1051887, rs2110431524, rs2110432091, rs2529773540, rs2476657335, rs2476657179, rs2476657038, rs2476656626, rs2476651963, rs2476650732 View all (38 more)	RCV001379880 RCV001383407 RCV001542747 RCV001825120 RCV001989873 RCV001922553 RCV001942226 RCV001956173 RCV002293556 RCV002293557 RCV002293558 RCV002293559 RCV002293560 RCV002293561 RCV002293562 RCV002293563 RCV002293564 RCV002293565 RCV002293566 RCV002293567 RCV002293568 RCV002293569 RCV002293570 RCV002293571 RCV002293581 RCV002293591 RCV002651846 RCV002871069 RCV000008551 RCV000008552 RCV000008553 RCV000008554 RCV000008555 RCV000008556 RCV000008560 RCV000008561 RCV002293409 RCV003807732 RCV003809956 RCV000416518 RCV000416496 RCV000416543 RCV000416516 RCV000416527 RCV000023116 RCV000543429 RCV000560514 RCV000792252 RCV000801898 RCV000820117 RCV001090057 RCV001047882 RCV001039241 RCV001217543 RCV001206264
PITX2-related disorder	Likely pathogenic	rs2529773049	RCV003394439
Rieger anomaly	Pathogenic	rs1553922901	RCV000584539
Ring dermoid of cornea	Likely pathogenic; Pathogenic	rs104893862	RCV000008562

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Anterior segment dysgenesis 1	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs148191851, rs6533526, rs35946364, rs141176394, rs886059004, rs886059006, rs886059007, rs765040142, rs201628949	RCV000287939 RCV000290152 RCV000364571 RCV000399939 RCV000265475 RCV000402748 RCV000387455 RCV000290085 RCV000355389
Atrial fibrillation, familial, 1	Conflicting classifications of pathogenicity	rs138163892	RCV000754825
Axenfeld-Rieger syndrome	Uncertain significance	rs886059004, rs886059007	RCV000300902 RCV000296761
Cataract	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs148191851, rs6533526, rs199896960, rs77144743, rs35946364, rs141176394, rs886059003, rs886059004, rs551209662, rs886059005, rs886059006, rs886059007, rs886059002, rs188349821, rs75911264 View all (48 more)	RCV000322891 RCV000382147 RCV001150169 RCV000262690 RCV000298878 RCV000391418 RCV000341246 RCV000297372 RCV000302839 RCV000331558 RCV000310863 RCV000347788 RCV000330342 RCV000311813 RCV000268286 RCV000282158 RCV000378045 RCV000369215 RCV000359478 RCV001148487 RCV001147164 RCV001147169 RCV001149709 RCV001145493 RCV001147443 RCV001145598 RCV001145834 RCV001144032 RCV001144035 RCV001145941 RCV001148721 RCV001150276 RCV001144143 RCV001146032 RCV001148820 RCV001150346 RCV001150349 RCV001144263 RCV001146155 RCV001148958 RCV001144376 RCV001146278 RCV001149071 RCV001149076 RCV001150577 RCV001144487 RCV001146416 RCV001149189 RCV001150698 RCV001144603 RCV001146539 RCV001146544 RCV001149309 RCV001150800 RCV001144692 RCV001146655 RCV001150890 RCV001144787 RCV001144791 RCV001147649 RCV001151000 RCV001143935 RCV001147562
Hypoplasia of the iris	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs148191851, rs6533526, rs199896960, rs77144743, rs35946364, rs141176394, rs886059003, rs551209662, rs886059005, rs886059006, rs886059002, rs188349821, rs75911264, rs567517676, rs765040142 View all (46 more)	RCV000265687 RCV000350621 RCV001150171 RCV000317910 RCV000306342 RCV000348827 RCV000289737 RCV000338713 RCV000273974 RCV000306270 RCV000282594 RCV000315387 RCV000299843 RCV000275375 RCV000347412 RCV000408426 RCV000304723 RCV001148486 RCV001147166 RCV001148066 RCV001149712 RCV001149826 RCV001147442 RCV001145602 RCV001145836 RCV001144030 RCV001145938 RCV001148715 RCV001150271 RCV001150278 RCV001144141 RCV001146031 RCV001148816 RCV001148823 RCV001150348 RCV001144261 RCV001148951 RCV001148955 RCV001144371 RCV001146280 RCV001149070 RCV001150574 RCV001150578 RCV001144490 RCV001146417 RCV001149194 RCV001150696 RCV001144604 RCV001146538 RCV001149303 RCV001150794 RCV001144686 RCV001144690 RCV001146659 RCV001150892 RCV001144785 RCV001146753 RCV001146755 RCV001147655 RCV001143933 RCV001147563
Intellectual disability	Conflicting classifications of pathogenicity	rs201628949	RCV005625557
Irido-corneo-trabecular dysgenesis	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs148191851, rs6533526, rs199896960, rs77144743, rs35946364, rs141176394, rs886059003, rs886059004, rs551209662, rs886059005, rs886059006, rs886059007, rs886059002, rs188349821, rs75911264 View all (48 more)	RCV000326490 RCV000392643 RCV001150167 RCV000360966 RCV000405104 RCV000291700 RCV000283957 RCV000405211 RCV000281312 RCV000270538 RCV000364335 RCV000351635 RCV000371012 RCV000261052 RCV000325255 RCV000332857 RCV000343269 RCV000403804 RCV000300585 RCV001145721 RCV001147162 RCV001148061 RCV001149708 RCV001145495 RCV001148373 RCV001145599 RCV001145832 RCV001144029 RCV001144036 RCV001148714 RCV001148719 RCV001150275 RCV001144139 RCV001146027 RCV001146034 RCV001150347 RCV001144257 RCV001144262 RCV001148952 RCV001148956 RCV001144377 RCV001144378 RCV001149069 RCV001149074 RCV001144484 RCV001146412 RCV001146418 RCV001149192 RCV001150701 RCV001150702 RCV001146540 RCV001146542 RCV001149308 RCV001144687 RCV001144688 RCV001146661 RCV001147566 RCV001144789 RCV001146754 RCV001146756 RCV001147653 RCV001145829 RCV001147561
Lung adenocarcinoma	Uncertain significance	rs1322668139	RCV003129671
Pituitary stalk interruption syndrome	Uncertain significance	rs951710742	RCV003330348
PITX2-Related Eye Abnormalities	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs148191851, rs6533526, rs199896960, rs77144743, rs35946364, rs141176394, rs886059003, rs886059004, rs551209662, rs886059005, rs886059006, rs886059007, rs886059002, rs188349821, rs75911264 View all (48 more)	RCV000358077 RCV000347493 RCV001150170 RCV000375906 RCV000337489 RCV000295266 RCV000408223 RCV000357833 RCV000296524 RCV000384776 RCV000392972 RCV000393072 RCV000276615 RCV000408220 RCV000322251 RCV000260239 RCV000285867 RCV000354089 RCV000393111 RCV001145719 RCV001147167 RCV001148064 RCV001149713 RCV001149825 RCV001147444 RCV001145600 RCV001145830 RCV001144033 RCV001145936 RCV001145943 RCV001148718 RCV001150274 RCV001144138 RCV001146030 RCV001148821 RCV001150344 RCV001144258 RCV001146148 RCV001146154 RCV001150466 RCV001144372 RCV001146275 RCV001149073 RCV001150573 RCV001144486 RCV001144489 RCV001149187 RCV001149188 RCV001150697 RCV001144606 RCV001144608 RCV001146543 RCV001149307 RCV001150799 RCV001144691 RCV001146657 RCV001150894 RCV001150897 RCV001146752 RCV001147651 RCV001147656 RCV001143932 RCV001147565
Prostate cancer	Uncertain significance	rs193920830	RCV000149104
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	rs141176394	RCV005895597
Wolff-Parkinson-White pattern	Uncertain significance	rs1320287028	RCV000656161

Show/Hide Text Mining Associations (101)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	37679021
Abortion Spontaneous	Associate	27009473
Adenocarcinoma of Lung	Associate	31731374, 32802839
Adenocarcinoma of Lung	Stimulate	33530195
Adenoma	Associate	31280266
Amelogenesis imperfecta local hypoplastic form	Associate	35882526
Aniridia	Associate	21617748, 27124303
Aniridia cerebellar ataxia mental deficiency	Associate	27124303
Anodontia	Associate	23549991, 35882526, 36017684, 38157055
Anophthalmia with pulmonary hypoplasia	Associate	37337632
Anterior segment mesenchymal dysgenesis	Associate	22569110
Appendicitis	Associate	28596592, 30392061
Arrhythmias Cardiac	Associate	24582607, 32233023
Arrhythmogenic Right Ventricular Dysplasia	Associate	36868229
Atrial Fibrillation	Associate	21846873, 22726630, 22776031, 23428961, 24161141, 24486271, 24582607, 24910551, 26272656, 26631084, 26783232, 28381281, 28596592, 28677534, 28900195 View all (19 more)
Atrial Flutter	Stimulate	35994481
Autistic Disorder	Associate	32499604
Axenfeld Rieger syndrome	Associate	10051017, 10490637, 11284764, 11301317, 16834779, 17134502, 17167399, 19052653, 19337485, 21617748, 22569110, 24003428, 24390743, 26489929, 27009473 View all (15 more)
Biliary Tract Neoplasms	Associate	27798672
Breast Neoplasms	Associate	18628976, 19153192, 20304943, 21167036, 25339043, 26400846, 26510686, 29328369, 30025446, 30442983, 34663249
Calcinosis Cutis	Associate	26400846
Carcinogenesis	Associate	21698121
Carcinoma Ductal	Associate	25339043
Carcinoma Ductal Breast	Associate	25339043
Carcinoma Endometrioid	Associate	29060924
Carcinoma Hepatocellular	Associate	35592706, 35765089, 35865652
Carcinoma Lobular	Associate	18628976
Carcinoma Neuroendocrine	Associate	38309431
Carcinoma Non Small Cell Lung	Associate	21698121, 24937636
Cardiomyopathies	Associate	30061737, 32233023
Cataract	Associate	32295643
Central Nervous System Diseases	Associate	36791193
Central Nervous System Vascular Malformations	Associate	37679021
Cerebral Infarction	Associate	37686257
Cerebrovascular Disorders	Associate	35994481
Cleft Palate	Associate	24738728
Colitis Ulcerative	Associate	37322958
Colorectal Neoplasms	Associate	29986714, 34372865
Congenital Abnormalities	Associate	22569110
Conversion Disorder	Associate	36017684
Deafness oligodontia syndrome	Associate	35882526
Developmental Disabilities	Associate	34566401
Ear Diseases	Associate	33231930
Embolic Stroke	Associate	22306652, 37686257
Endocrine System Diseases	Associate	30025446
Esophageal Squamous Cell Carcinoma	Associate	35899307
Eye Abnormalities	Associate	15912477, 33781219
Facial Asymmetry	Associate	25364968
Facial Dysmorphism with Multiple Malformations	Associate	33231930
Foveal Hypoplasia with Anterior Segment Anomalies	Associate	33781219
Fuchs' Endothelial Dystrophy	Associate	23110055
Genetic Diseases Inborn	Associate	29664915
Glaucoma	Associate	17167399, 28513611, 30653210, 30657791, 32606567, 35354164
Glaucoma 3 Primary Congenital A	Associate	26220699, 28513611, 30657791
Glaucoma Open Angle	Associate	28513611
Glucagonoma	Associate	26400846
Heart Defects Congenital	Associate	30061737
Heart Diseases	Associate	35471998
Hernia Umbilical	Associate	22569110, 35882526
Heterotaxy Syndrome	Associate	28381281
Hip Injuries	Associate	28677534
Immune System Diseases	Associate	35830366
Inflammation	Associate	30392061
Internal Hernia	Associate	28596592
Iris Diseases	Associate	35354164
Ischemic Attack Transient	Associate	26631084
Ischemic Stroke	Associate	26631084
Leukemia Myeloid Acute	Associate	11313277
Lung Neoplasms	Associate	30516882, 39595659
Malocclusion	Associate	29103441
Meckel Diverticulum	Stimulate	35882526
Multiple Sclerosis	Associate	35008743
Muscular Dystrophy Congenital Megaconial Type	Associate	36017684
Neoplasm Metastasis	Associate	38309431
Neoplasms	Associate	18616821, 20233874, 20627871, 24875049, 26298390, 26510686, 27173224, 27798672, 27939865, 28617833, 29060924, 29986714, 31082426, 34372865, 35592706, 35765089 View all (1 more)
Neoplasms	Inhibit	24937636
Neoplasms Second Primary	Associate	20627871
Neoplasms Squamous Cell	Associate	18616821
Neural crest tumor	Associate	38309431
Neuroendocrine Tumors	Associate	38309431
Oculocerebrorenal Syndrome	Associate	33231930
Odontogenic Tumors	Associate	36344906
Optic Nerve Hypoplasia	Associate	35354164
Orofacial Cleft 1	Associate	32548603
Ovarian Diseases	Associate	26298390
Ovarian Neoplasms	Associate	23250740, 24253043
Ovarian Neoplasms	Stimulate	26298390
Pancreatic Neoplasms	Associate	37337632
Peters anomaly	Associate	10051017
Pituitary Diseases	Associate	18728160
Pituitary Neoplasms	Associate	28742208, 32224525
Prostatic Neoplasms	Associate	16787920, 19229700, 20304943, 23266319, 24938434, 27173224, 27708246, 27708722, 27939865
Pulmonary Disease Chronic Obstructive	Associate	22829758
Ring dermoid of cornea	Associate	21052876, 22224469
Sick Sinus Syndrome	Associate	24582607, 33580673
Squamous Cell Carcinoma of Head and Neck	Associate	20627871, 27716615, 28617833
Stenosis Pulmonary Vein	Associate	37495323
Stroke	Associate	22776031, 30760287, 34727735, 34990849
Telecanthus	Associate	33231930
Triple Negative Breast Neoplasms	Associate	29328369
Uterine Cervical Neoplasms	Associate	28351298

PITX2 (paired like homeodomain 2)