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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	5307
Gene name	Paired like homeodomain 1
Gene symbol	PITX1
Synonyms (NCBI Gene)	BFTCCFLBNBGPOTXPTX1
Chromosome	5
Chromosome location	5q31.1
Summary	This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs370433085	G>A,C	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained
rs730882191	GCCGTACGGGCAAGCGCCCGGCGACATGGCCGAGT>-	Pathogenic	Coding sequence variant, frameshift variant

181

Show/Hide all (181)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049789	hsa-miR-92a-3p	CLASH	23622248
MIRT045636	hsa-miR-149-5p	CLASH	23622248
MIRT044749	hsa-miR-320a	CLASH	23622248
MIRT043542	hsa-miR-331-3p	CLASH	23622248
MIRT614517	hsa-miR-431-3p	HITS-CLIP	19536157
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	19536157
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	19536157
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	19536157
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	19536157
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT614517	hsa-miR-431-3p	HITS-CLIP	23824327
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	23824327
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	23824327
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	23824327
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	23824327
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT614517	hsa-miR-431-3p	HITS-CLIP	23824327
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	23824327
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	23824327
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	23824327
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	23824327
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT614517	hsa-miR-431-3p	HITS-CLIP	23824327
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	23824327
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	23824327
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	23824327
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	23824327
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT614517	hsa-miR-431-3p	HITS-CLIP	23824327
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	23824327
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	23824327
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	23824327
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	23824327
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT614517	hsa-miR-431-3p	HITS-CLIP	23824327
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	23824327
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	23824327
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	23824327
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	23824327
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT614517	hsa-miR-431-3p	HITS-CLIP	19536157
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	19536157
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	19536157
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	19536157
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	19536157
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT614517	hsa-miR-431-3p	HITS-CLIP	23824327
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	23824327
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	23824327
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	23824327
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	23824327
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT614517	hsa-miR-431-3p	HITS-CLIP	23824327
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	23824327
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	23824327
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	23824327
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	23824327
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT614517	hsa-miR-431-3p	HITS-CLIP	23824327
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	23824327
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	23824327
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	23824327
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	23824327
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT614517	hsa-miR-431-3p	HITS-CLIP	23824327
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	23824327
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	23824327
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	23824327
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	23824327
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT614517	hsa-miR-431-3p	HITS-CLIP	23824327
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	23824327
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	23824327
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	23824327
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	23824327
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT1237003	hsa-miR-1908	CLIP-seq
MIRT1237004	hsa-miR-1910	CLIP-seq
MIRT1237005	hsa-miR-2277-5p	CLIP-seq
MIRT1237006	hsa-miR-30a	CLIP-seq
MIRT1237007	hsa-miR-30b	CLIP-seq
MIRT1237008	hsa-miR-30c	CLIP-seq
MIRT1237009	hsa-miR-30d	CLIP-seq
MIRT1237010	hsa-miR-30e	CLIP-seq
MIRT1237011	hsa-miR-3178	CLIP-seq
MIRT1237012	hsa-miR-3191	CLIP-seq
MIRT1237013	hsa-miR-3607-3p	CLIP-seq
MIRT1237014	hsa-miR-3616-3p	CLIP-seq
MIRT1237015	hsa-miR-3656	CLIP-seq
MIRT1237016	hsa-miR-3960	CLIP-seq
MIRT1237017	hsa-miR-4258	CLIP-seq
MIRT1237018	hsa-miR-4436b-3p	CLIP-seq
MIRT1237019	hsa-miR-4443	CLIP-seq
MIRT1237020	hsa-miR-4455	CLIP-seq
MIRT1237021	hsa-miR-4479	CLIP-seq
MIRT1237022	hsa-miR-4481	CLIP-seq
MIRT1237023	hsa-miR-455-3p	CLIP-seq
MIRT1237024	hsa-miR-4672	CLIP-seq
MIRT1237025	hsa-miR-4706	CLIP-seq
MIRT1237026	hsa-miR-4707-3p	CLIP-seq
MIRT1237027	hsa-miR-4738-5p	CLIP-seq
MIRT1237028	hsa-miR-4740-3p	CLIP-seq
MIRT1237029	hsa-miR-4743	CLIP-seq
MIRT1237030	hsa-miR-4745-5p	CLIP-seq
MIRT1237031	hsa-miR-4747-3p	CLIP-seq
MIRT1237032	hsa-miR-4749-5p	CLIP-seq
MIRT1237033	hsa-miR-4755-3p	CLIP-seq
MIRT1237034	hsa-miR-511	CLIP-seq
MIRT1237035	hsa-miR-539	CLIP-seq
MIRT1237036	hsa-miR-556-3p	CLIP-seq
MIRT1237037	hsa-miR-582-5p	CLIP-seq
MIRT1237038	hsa-miR-615-5p	CLIP-seq
MIRT1237039	hsa-miR-663	CLIP-seq
MIRT1237040	hsa-miR-759	CLIP-seq
MIRT1237041	hsa-miR-891b	CLIP-seq
MIRT1237034	hsa-miR-511	CLIP-seq
MIRT1237034	hsa-miR-511	CLIP-seq
MIRT1237034	hsa-miR-511	CLIP-seq
MIRT1922315	hsa-miR-3140-3p	CLIP-seq
MIRT1237034	hsa-miR-511	CLIP-seq
MIRT1922315	hsa-miR-3140-3p	CLIP-seq
MIRT1237034	hsa-miR-511	CLIP-seq
MIRT1237004	hsa-miR-1910	CLIP-seq
MIRT1237006	hsa-miR-30a	CLIP-seq
MIRT1237007	hsa-miR-30b	CLIP-seq
MIRT1237008	hsa-miR-30c	CLIP-seq
MIRT1237009	hsa-miR-30d	CLIP-seq
MIRT1237010	hsa-miR-30e	CLIP-seq
MIRT1237013	hsa-miR-3607-3p	CLIP-seq
MIRT1237014	hsa-miR-3616-3p	CLIP-seq
MIRT1237023	hsa-miR-455-3p	CLIP-seq
MIRT1237024	hsa-miR-4672	CLIP-seq
MIRT1237034	hsa-miR-511	CLIP-seq
MIRT1237036	hsa-miR-556-3p	CLIP-seq
MIRT1237037	hsa-miR-582-5p	CLIP-seq
MIRT1237041	hsa-miR-891b	CLIP-seq
MIRT2297028	hsa-miR-127-3p	CLIP-seq
MIRT2297029	hsa-miR-1538	CLIP-seq
MIRT1237004	hsa-miR-1910	CLIP-seq
MIRT2297030	hsa-miR-19a	CLIP-seq
MIRT2297031	hsa-miR-19b	CLIP-seq
MIRT1237005	hsa-miR-2277-5p	CLIP-seq
MIRT1237006	hsa-miR-30a	CLIP-seq
MIRT1237007	hsa-miR-30b	CLIP-seq
MIRT1237008	hsa-miR-30c	CLIP-seq
MIRT1237009	hsa-miR-30d	CLIP-seq
MIRT1237010	hsa-miR-30e	CLIP-seq
MIRT1237011	hsa-miR-3178	CLIP-seq
MIRT1237013	hsa-miR-3607-3p	CLIP-seq
MIRT1237015	hsa-miR-3656	CLIP-seq
MIRT2297032	hsa-miR-4264	CLIP-seq
MIRT1237020	hsa-miR-4455	CLIP-seq
MIRT1237023	hsa-miR-455-3p	CLIP-seq
MIRT2297033	hsa-miR-4645-5p	CLIP-seq
MIRT1237024	hsa-miR-4672	CLIP-seq
MIRT2297034	hsa-miR-4673	CLIP-seq
MIRT1237026	hsa-miR-4707-3p	CLIP-seq
MIRT1237029	hsa-miR-4743	CLIP-seq
MIRT2297035	hsa-miR-4745-3p	CLIP-seq
MIRT1237031	hsa-miR-4747-3p	CLIP-seq
MIRT2297036	hsa-miR-4796-3p	CLIP-seq
MIRT2297037	hsa-miR-518a-5p	CLIP-seq
MIRT2297038	hsa-miR-520g	CLIP-seq
MIRT2297039	hsa-miR-520h	CLIP-seq
MIRT2297040	hsa-miR-527	CLIP-seq
MIRT1237036	hsa-miR-556-3p	CLIP-seq
MIRT1237037	hsa-miR-582-5p	CLIP-seq
MIRT1922315	hsa-miR-3140-3p	CLIP-seq
MIRT1237034	hsa-miR-511	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
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	IEA
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	IEA
GO:0001501	Process	Skeletal system development	IEA
GO:0001501	Process	Skeletal system development	TAS	9070926
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0005515	Function	Protein binding	IPI	16189514, 24722188, 25416956, 25910212, 29892012, 31515488, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	17984056
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	9070926
GO:0014707	Process	Branchiomeric skeletal muscle development	IEA
GO:0021983	Process	Pituitary gland development	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035137	Process	Hindlimb morphogenesis	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048625	Process	Myoblast fate commitment	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	26612202
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
602149	9004	ENSG00000069011

P78337

Protein name

Pituitary homeobox 1 (Hindlimb-expressed homeobox protein backfoot) (Homeobox protein PITX1) (Paired-like homeodomain transcription factor 1)

Protein function

Sequence-specific transcription factor that binds gene promoters and activates their transcription. May play a role in the development of anterior structures, and in particular, the brain and facies and in specifying the identity or structure of

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	90 → 146	Homeodomain	Domain
PF03826	OAR	276 → 293	OAR motif	Motif

Sequence

MDAFKGGMSLERLPEGLRPPPPPPHDMGPAFHLARPADPREPLENSASESSDTELPEKER
GGEPKGPEDSGAGGTGCGGADDPAKKKKQRRQRTHFTSQQLQELEATFQRNRYPDMSMRE
EIAVWTNLTEPRVRVWFKNRRAKWRKRERNQQLDLCKGGYVPQFSGLVQPYEDVYAAGYS
YNNWAAKSLAPAPLSTKSFTFFNSMSPLSSQSMFSAPSSISSMTMPSSMGPGAVPGMPNS
GLNNINNLTGSSLNSAMSPGACPYGTPASPYSVYRDTCNSSLASLRLKSKQHSSFGYGGL
QGPASGLNACQYNS

Sequence length

314

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Clubfoot	Likely pathogenic; Pathogenic	rs1752408604, rs2149562896, rs121909109, rs2479672475, rs730882191	RCV001335965 RCV001785380 RCV000007934 RCV003223529 RCV000030814	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hurler syndrome	Likely pathogenic	rs1752408637	RCV001201163	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly-elbow wrist dysplasia syndrome	Benign; Uncertain significance	ClinVar Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CLUBFOOT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL CLUBFOOT DUE TO 5Q31 MICRODELETION	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL CLUBFOOT DUE TO PITX1 POINT MUTATION	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROGNATHISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PFAUNDLER-HURLER SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITX1-related disorder	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR GERM CELL TUMOR	—	CTD, GWAS catalog CTD, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (116)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	16291394, 17029629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	16291394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30322808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	11048804, 17029629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	23467837, 29743058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	29066082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	15379897, 17223147, 19766605, 21749456, 25550546, 27665771		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	18053270		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	18053270		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	18053270	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Barrett Esophagus	Barrett esophagus	BEFREE	16291394, 30745462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	LHGDN	16291394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	29066082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly-elbow wrist dysplasia syndrome	Brachydactyly-Elbow Wrist Dysplasia Syndrome	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Breast Carcinoma	Breast Carcinoma	BEFREE	21868451		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20132413, 21868451, 32830857, 34215221, 35132081	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35225467	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18186570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	21692051	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	29060924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21067840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17157953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	34215221	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34868397	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	36791193	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	BEFREE	30745462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	18950742, 20598276, 22258522, 32518174, 36360195	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colon Carcinoma	Colon Carcinoma	BEFREE	29484135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22438068, 25305284, 27166180, 27752061, 28257448, 29484135, 31488085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26381143	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of tibia	Tibial hemimelia	BEFREE	18950742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	BEFREE	18950742, 21744490, 21775501, 22178765, 22258522, 28919208, 31527569		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital clubfoot	Congenital Clubfoot	UNIPROT_DG	18950742, 22258522		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital clubfoot	Congenital Clubfoot	GENOMICS_ENGLAND_DG	22258522, 23022097, 23587911		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital clubfoot	Congenital Clubfoot	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital clubfoot	Congenital Clubfoot	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	30451103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29296184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	26816608	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	23816528, 27742032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	17549029, 20054692, 31783149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	29453441	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	26816608	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	Pubtator	34044792	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial clubfoot due to 5q31 microdeletion	Clubfoot	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial clubfoot due to PITX1 point mutation	Clubfoot	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	27865932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31493405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31493405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31069865, 8039304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	BEFREE	29066082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	18186570	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	17166747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	34758847	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	18186570	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
LAURIN-SANDROW SYNDROME	Laurin-Sandrow syndrome	BEFREE	22258522		★★★★★ ★☆☆☆☆ Found in Text Mining only
LAURIN-SANDROW SYNDROME	Laurin-Sandrow syndrome	ORPHANET_DG	22258522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	18950742, 22258522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21067840, 26840794		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	40130551	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21868451		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17157953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11445006, 12932305, 16989575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	18186570, 29734189, 31007741, 31260797		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16291394, 16369996, 18186570, 27742032, 27935805, 29734189, 31007741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29484135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mandibulofacial Dysostosis	Mandibulofacial Dysostosis	BEFREE	9337397		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27742032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	27742032	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	29480949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	17984056, 19809486, 34030118	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	17984056	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	17984056, 20490329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16382005, 17157953, 17914117, 23816528, 25190136, 2582448, 26840794, 27742032, 29425237, 29734189, 30549141, 31069865, 31260797		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30322808, 30549141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	27802335	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	27802335	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	27802335		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	LHGDN	17549029		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	20054692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	25936343, 36334221	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34215221	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	22258522, 28488682, 31115189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	22258522, 28488682, 31115189	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	23022097		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	Pubtator	22258522	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	21425961		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11445006, 12932305, 16989575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	12932305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	BEFREE	22258522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29296184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	35263317	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	34356068	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Simple syndactyly of fingers - first web	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Somatotrophinoma, Familial	Somatotroph adenoma	BEFREE	31190233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29425237, 30713093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29137437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	29425237	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	18186570, 29734189, 31007741, 31260797		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18186570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18186570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly	BRACHYDACTYLY WITH JOINT DYSPLASIA	GENOMICS_ENGLAND_DG	23022097, 23587911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly	BRACHYDACTYLY WITH JOINT DYSPLASIA	ORPHANET_DG	23022097		★★★★★ ★☆☆☆☆ Found in Text Mining only
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly	BRACHYDACTYLY WITH JOINT DYSPLASIA	BEFREE	23587911, 23940102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly	BRACHYDACTYLY WITH JOINT DYSPLASIA	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	23666240		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	GWASDB_DG	23666240		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	CTD_human_DG	23666240		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Neoplasms	Testicular Neoplasms	GWASCAT_DG	23666240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	22608477		★★★★★ ★☆☆☆☆ Found in Text Mining only

PITX1 (paired like homeodomain 1)