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	5422
Gene name	DNA polymerase alpha 1, catalytic subunit
Gene symbol	POLA1
Synonyms (NCBI Gene)	NSXPDRPOLAVEODSp180
Chromosome	X
Chromosome location	Xp22.11-p21.3
Summary	This gene encodes the catalytic subunit of DNA polymerase, which together with a regulatory and two primase subunits, forms the DNA polymerase alpha complex. The catalytic subunit plays an essential role in the initiation of DNA replication. [provided by

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs774419889	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs869312979	A>G	Pathogenic	Intron variant
rs1569271378	T>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, intron variant
rs1569271892	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs1569277866	AAAGCTGTAGACTTGTCCAAGGATGGTCTGCTAGGTGACATTCTACAGGATCTTAACACTGAG>-	Pathogenic	Coding sequence variant, splice acceptor variant, non coding transcript variant
rs1569277899	G>A	Pathogenic	Splice donor variant
rs1569350993	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant

Show/Hide all (43)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016282	hsa-miR-193b-3p	Microarray	20304954
MIRT022295	hsa-miR-124-3p	Microarray	18668037
MIRT028969	hsa-miR-26b-5p	Microarray	19088304
MIRT717111	hsa-miR-6882-3p	HITS-CLIP	19536157
MIRT717110	hsa-miR-6885-3p	HITS-CLIP	19536157
MIRT717111	hsa-miR-6882-3p	HITS-CLIP	19536157
MIRT717110	hsa-miR-6885-3p	HITS-CLIP	19536157
MIRT1247157	hsa-miR-1287	CLIP-seq
MIRT1247158	hsa-miR-1296	CLIP-seq
MIRT1247159	hsa-miR-2909	CLIP-seq
MIRT1247160	hsa-miR-3135b	CLIP-seq
MIRT1247161	hsa-miR-3612	CLIP-seq
MIRT1247162	hsa-miR-4443	CLIP-seq
MIRT1247163	hsa-miR-4512	CLIP-seq
MIRT1247164	hsa-miR-4640-5p	CLIP-seq
MIRT1247165	hsa-miR-4726-5p	CLIP-seq
MIRT1247166	hsa-miR-650	CLIP-seq
MIRT1247167	hsa-miR-759	CLIP-seq
MIRT1247168	hsa-miR-765	CLIP-seq
MIRT2300090	hsa-miR-181a	CLIP-seq
MIRT2300091	hsa-miR-181b	CLIP-seq
MIRT2300092	hsa-miR-181c	CLIP-seq
MIRT2300093	hsa-miR-181d	CLIP-seq
MIRT2300094	hsa-miR-3618	CLIP-seq
MIRT2300095	hsa-miR-3663-5p	CLIP-seq
MIRT2300096	hsa-miR-377	CLIP-seq
MIRT2300097	hsa-miR-4262	CLIP-seq
MIRT2300098	hsa-miR-601	CLIP-seq
MIRT2392803	hsa-miR-3921	CLIP-seq
MIRT2392804	hsa-miR-4251	CLIP-seq
MIRT2392805	hsa-miR-4329	CLIP-seq
MIRT2392806	hsa-miR-4653-5p	CLIP-seq
MIRT2392807	hsa-miR-760	CLIP-seq
MIRT2456815	hsa-miR-1267	CLIP-seq
MIRT2456816	hsa-miR-1269	CLIP-seq
MIRT2456817	hsa-miR-1269b	CLIP-seq
MIRT2456818	hsa-miR-4529-3p	CLIP-seq
MIRT2456819	hsa-miR-4711-3p	CLIP-seq
MIRT2456815	hsa-miR-1267	CLIP-seq
MIRT2456816	hsa-miR-1269	CLIP-seq
MIRT2456817	hsa-miR-1269b	CLIP-seq
MIRT2456818	hsa-miR-4529-3p	CLIP-seq
MIRT2456819	hsa-miR-4711-3p	CLIP-seq

Show/Hide all (55)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IDA	3139084
GO:0000166	Function	Nucleotide binding	IEA
GO:0000731	Process	DNA synthesis involved in DNA repair	IMP	11470886
GO:0000785	Component	Chromatin	IDA	9815285
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IDA	16762037
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IDA	16762037
GO:0003688	Function	DNA replication origin binding	IBA
GO:0003697	Function	Single-stranded DNA binding	IBA
GO:0003887	Function	DNA-directed DNA polymerase activity	IBA
GO:0003887	Function	DNA-directed DNA polymerase activity	IDA	893425, 3359994, 8026492, 26975377
GO:0003887	Function	DNA-directed DNA polymerase activity	IEA
GO:0003887	Function	DNA-directed DNA polymerase activity	IMP	4084590
GO:0005515	Function	Protein binding	IPI	1311258, 2243771, 7644508, 8380896, 9395244, 9518481, 10518787, 10869558, 16438930, 17666013
GO:0005634	Component	Nucleus	IDA	4084590, 16762037
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	9518481
GO:0005654	Component	Nucleoplasm	IDA	7045121
GO:0005654	Component	Nucleoplasm	TAS
GO:0005658	Component	Alpha DNA polymerase:primase complex	IBA
GO:0005658	Component	Alpha DNA polymerase:primase complex	IDA	2175912, 8026492, 22465957, 26975377
GO:0005658	Component	Alpha DNA polymerase:primase complex	IEA
GO:0005658	Component	Alpha DNA polymerase:primase complex	IPI	26975377
GO:0005658	Component	Alpha DNA polymerase:primase complex	TAS	2243771
GO:0005730	Component	Nucleolus	IDA	9518481
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	27019227
GO:0005829	Component	Cytosol	IEA
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	IMP	3917431, 4084590, 16762037, 31006512
GO:0006261	Process	DNA-templated DNA replication	IEA
GO:0006269	Process	DNA replication, synthesis of primer	IDA	2175912, 8026492, 27019227
GO:0006270	Process	DNA replication initiation	IDA	2175912, 26975377
GO:0006271	Process	DNA strand elongation involved in DNA replication	IMP	4084590
GO:0006272	Process	Leading strand elongation	IBA
GO:0006272	Process	Leading strand elongation	IDA	2175912, 7910375
GO:0006273	Process	Lagging strand elongation	IBA
GO:0006273	Process	Lagging strand elongation	IDA	2175912, 7910375
GO:0006281	Process	DNA repair	IDA	3335506
GO:0006281	Process	DNA repair	IMP	11470886
GO:0006289	Process	Nucleotide-excision repair	IMP	1508673
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IMP	11470886
GO:0008270	Function	Zinc ion binding	IDA	26975377
GO:0008270	Function	Zinc ion binding	IEA
GO:0016363	Component	Nuclear matrix	IDA	1903085
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0019901	Function	Protein kinase binding	IPI	9506968
GO:0032479	Process	Regulation of type I interferon production	IMP	27019227
GO:0034061	Function	DNA polymerase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:1902975	Process	Mitotic DNA replication initiation	IEA
GO:1904161	Process	DNA synthesis involved in UV-damage excision repair	IMP	1730053

MIM	HGNC	e!Ensembl
312040	9173	ENSG00000101868

P09884

Protein name

DNA polymerase alpha catalytic subunit (EC 2.7.7.7) (DNA polymerase alpha catalytic subunit p180)

Protein function

Catalytic subunit of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex) which plays an essential role in the initiation of DNA synthesis. During the S phase of the cell cycle, the DNA polymerase alpha compl

PDB

1K0P , 1K18 , 1N5G , 4Q5V , 4QCL , 4Y97 , 5EXR , 5IUD , 6AS7 , 7N2M , 7OPL , 7U5C , 8B9D , 8D0B , 8D0K , 8D96 , 8D9D , 8QJ7 , 8VY3 , 9C8V , 9MJ5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12254	DNA_pol_alpha_N	35 → 96	DNA polymerase alpha subunit p180 N terminal	Family
PF03104	DNA_pol_B_exo1	369 → 711	DNA polymerase family B, exonuclease domain	Family
PF00136	DNA_pol_B	774 → 1227	DNA polymerase family B	Family
PF08996	zf-DNA_Pol	1265 → 1455	DNA Polymerase alpha zinc finger	Domain

Sequence

MAPVHGDDSLSDSGSFVSSRARREKKSKKGRQEALERLKKAKAGEKYKYEVEDFTGVYEE
VDEEQYSKLVQARQDDDWIVDDDGIGYVEDGREIFDDDLEDDALDADEKGKDGKARNKDK
RNVKKLAVTKPNNIKSMFIACAGKKTADKAVDLSKDGLLGDILQDLNTETPQITPPPVMI
LKKKRSIGASPNPFSVHTATAVPSGKIASPVSRKEPPLTPVPLKRAEFAGDDVQVESTEE
EQESGAMEFEDGDFDEPMEVEEVDLEPMAAKAWDKESEPAEEVKQEADSGKGTVSYLGSF
LPDVSCWDIDQEGDSSFSVQEVQVDSSHLPLVKGADEEQVFHFYWLDAYEDQYNQPGVVF
LFGKVWIESAETHVSCCVMVKNIERTLYFLPREMKIDLNTGKETGTPISMKDVYEEFDEK
IATKYKIMKFKSKPVEKNYAFEIPDVPEKSEYLEVKYSAEMPQLPQDLKGETFSHVFGTN
TSSLELFLMNRKIKGPCWLEVKSPQLLNQPVSWCKVEAMALKPDLVNVIKDVSPPPLVVM
AFSMKTMQNAKNHQNEIIAMAALVHHSFALDKAAPKPPFQSHFCVVSKPKDCIFPYAFKE
VIEKKNVKVEVAATERTLLGFFLAKVHKIDPDIIVGHNIYGFELEVLLQRINVCKAPHWS
KIGRLKRSNMPKLGGRSGFGERNATCGRMICDVEISAKELIRCKSYHLSELVQQILKTER
VVIPMENIQNMYSESSQLLYLLEHTWKDAKFILQIMCELNVLPLALQITNIAGNIMSRTL
MGGRSERNEFLLLHAFYENNYIVPDKQIFRKPQQKLGDEDEEIDGDTNKYKKGRKKAAYA
GGLVLDPKVGFYDKFILLLDFNSLYPSIIQEFNICFTTVQRVASEAQKVTEDGEQEQIPE
LPDPSLEMGILPREIRKLVERRKQVKQLMKQQDLNPDLILQYDIRQKALKLTANSMYGCL
GFSYSRFYAKPLAALVTYKGREILMHTKEMVQKMNLEVIYGDTDSIMINTNSTNLEEVFK
LGNKVKSEVNKLYKLLEIDIDGVFKSLLLLKKKKYAALVVEPTSDGNYVTKQELKGLDIV
RRDWCDLAKDTGNFVIGQILSDQSRDTIVENIQKRLIEIGENVLNGSVPVSQFEINKALT
KDPQDYPDKKSLPHVHVALWINSQGGRKVKAGDTVSYVICQDGSNLTASQRAYAPEQLQK
QDNLTIDTQYYLAQQIHPVVARICEPIDGIDAVLIATWLGLDPTQFRVHHYHKDEENDAL
LGGPAQLTDEEKYRDCERFKCPCPTCGTENIYDNVFDGSGTDMEPSLYRCSNIDCKASPL
TFTVQLSNKLIMDIRRFIKKYYDGWLICEEPTCRNRTRHLPLQFSRTGPLCPACMKATLQ
PEYSDKSLYTQLCFYRYIFDAECALEKLTTDHEKDKLKKQFFTPKVLQDYRKLKNTAEQF
LSRSGYSEVNLSKLFAGCAVKS

Sequence length

1462

Interactions

View interactions

	KEGG		Reactome
	DNA replication		Inhibition of replication initiation of damaged DNA by RB1/E2F1 Polymerase switching on the C-strand of the telomere Telomere C-strand synthesis initiation DNA replication initiation Activation of the pre-replicative complex Polymerase switching Removal of the Flap Intermediate Processive synthesis on the lagging strand G1/S-Specific Transcription

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Inherited aplastic anemia	Likely pathogenic	rs2518817148, rs2518693616, rs1930638172	RCV003991543 RCV003991549 RCV003991550	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs1569271892	RCV005897367	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked intellectual disability, van Esch type	Pathogenic; Likely pathogenic	rs2148341850, rs1569271378, rs1569271892, rs1569350993, rs1569277866, rs1569277899, rs774419889	RCV001786494 RCV000791329 RCV000791333 RCV000791330 RCV000791332 RCV000791331 RCV000995840 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked reticulate pigmentary disorder	Pathogenic	rs869312979	RCV000210684	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

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.
Agammaglobulinemia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLA1-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RARE CONSTITUTIONAL APLASTIC ANEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VAN ESCH-O'DRISCOLL SYNDROME	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY VAN ESCH TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (79)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	11459271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	29417332, 29776746		★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	31693295		★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	31693295		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	29505099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	BEFREE	30018130, 31832685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	27019227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33188160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	37746664	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28472362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	29486176, 30644359, 31654901		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colitis	Colitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	1558798, 2328204, 32161100	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary valve	Congenital Atresia Of Pulmonary Valve	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	30644359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of glucose-6-phosphate dehydrogenase	Deficiency Of Glucose-6-Phosphate Dehydrogenase	BEFREE	30674319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	22587369, 30361276, 31001668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	22587369, 30361276, 31001668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	27616658	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	31546259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19381432, 26989329, 28472362, 29167896, 30149416, 30359091, 31473834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	22587369, 23562823, 25981750, 26989329, 27846040, 28299499, 28318640, 28448655, 28472362, 28669781, 29677360, 30103306, 30149416, 30225233, 30361276 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	31237044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	1575057, 2470714	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	BEFREE	11738352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37762371	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37349788	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	BEFREE	31271507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30396368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31546259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	31006512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31006512, 8817333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	1696013	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	2514170, 8144401	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28676103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28676103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	8817333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	11738352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	2765363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	28869958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	3146694, 6951191, 9348340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	2188094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	2188094	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	36081501	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30742114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36081501, 40240887	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME	Partington syndrome	ORPHANET_DG	27019227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pharyngitis	Pharyngitis	BEFREE	22716289		★★★★★ ★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	17297031, 22153360, 23951379, 25699514, 26158273, 28452992, 28914184, 29061133, 29297369, 29316932, 31018855, 31331276, 31404522		★★★★★ ★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	GENOMICS_ENGLAND_DG	19377476, 27019227, 31006512		★★★★★ ★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	ORPHANET_DG	27019227		★★★★★ ★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	29086538		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28676103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	30951544, 31546881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	31546881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	25359286, 25981750, 27846040, 28448655, 28452992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	34646884	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	31246981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	2765363, 35036435	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	31672938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28320388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	37746664	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked intellectual disability, Van Esch type	Mental Retardation, X-Linked	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked reticulate pigmentary disorder	Reticulate Pigmentary Disorder, X-Linked	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	866172	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

POLA1 (DNA polymerase alpha 1, catalytic subunit)