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	51082
Gene name	RNA polymerase I and III subunit D
Gene symbol	POLR1D
Synonyms (NCBI Gene)	AC19POLR1CRPA16RPA9RPAC2RPC16RPO1-3TCS2
Chromosome	13
Chromosome location	13q12.2
Summary	The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins synd

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1593275599	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, intron variant
rs1593275616	->GG	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, intron variant

187

Show/Hide all (187)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027718	hsa-miR-98-5p	Microarray	19088304
MIRT038262	hsa-miR-374a-3p	CLASH	23622248
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT645720	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT640827	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT640828	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT640827	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT521830	hsa-miR-302f	PAR-CLIP	23446348
MIRT521829	hsa-miR-4459	PAR-CLIP	23446348
MIRT521828	hsa-miR-665	PAR-CLIP	23446348
MIRT521827	hsa-miR-6840-3p	PAR-CLIP	23446348
MIRT368709	hsa-miR-4324	PAR-CLIP	23446348
MIRT368708	hsa-miR-544b	PAR-CLIP	23446348
MIRT521826	hsa-miR-3653-5p	PAR-CLIP	23446348
MIRT521825	hsa-miR-4251	PAR-CLIP	23446348
MIRT521824	hsa-miR-17-3p	PAR-CLIP	23446348
MIRT521823	hsa-miR-219b-3p	PAR-CLIP	23446348
MIRT521822	hsa-miR-6499-3p	PAR-CLIP	23446348
MIRT521821	hsa-miR-766-5p	PAR-CLIP	23446348
MIRT368706	hsa-miR-1200	PAR-CLIP	23446348
MIRT521820	hsa-miR-580-3p	PAR-CLIP	23446348
MIRT521819	hsa-miR-1273e	PAR-CLIP	23446348
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT645720	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT640827	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT640828	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT640827	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT521830	hsa-miR-302f	PAR-CLIP	23446348
MIRT521829	hsa-miR-4459	PAR-CLIP	23446348
MIRT521828	hsa-miR-665	PAR-CLIP	23446348
MIRT521827	hsa-miR-6840-3p	PAR-CLIP	23446348
MIRT368709	hsa-miR-4324	PAR-CLIP	23446348
MIRT368708	hsa-miR-544b	PAR-CLIP	23446348
MIRT521826	hsa-miR-3653-5p	PAR-CLIP	23446348
MIRT521825	hsa-miR-4251	PAR-CLIP	23446348
MIRT521824	hsa-miR-17-3p	PAR-CLIP	23446348
MIRT521823	hsa-miR-219b-3p	PAR-CLIP	23446348
MIRT521822	hsa-miR-6499-3p	PAR-CLIP	23446348
MIRT521821	hsa-miR-766-5p	PAR-CLIP	23446348
MIRT368706	hsa-miR-1200	PAR-CLIP	23446348
MIRT521820	hsa-miR-580-3p	PAR-CLIP	23446348
MIRT521819	hsa-miR-1273e	PAR-CLIP	23446348
MIRT1248319	hsa-miR-1252	CLIP-seq
MIRT1248320	hsa-miR-217	CLIP-seq
MIRT1248321	hsa-miR-3130-3p	CLIP-seq
MIRT1248322	hsa-miR-4277	CLIP-seq
MIRT1248323	hsa-miR-4279	CLIP-seq
MIRT1248324	hsa-miR-4314	CLIP-seq
MIRT1248325	hsa-miR-4418	CLIP-seq
MIRT1248326	hsa-miR-4436a	CLIP-seq
MIRT1248327	hsa-miR-4700-3p	CLIP-seq
MIRT1248328	hsa-miR-4718	CLIP-seq
MIRT1248329	hsa-miR-4728-3p	CLIP-seq
MIRT1248330	hsa-miR-4735-5p	CLIP-seq
MIRT1248331	hsa-miR-4793-3p	CLIP-seq
MIRT1248332	hsa-miR-4797-5p	CLIP-seq
MIRT1248333	hsa-miR-509-3-5p	CLIP-seq
MIRT1248334	hsa-miR-509-5p	CLIP-seq
MIRT1248335	hsa-miR-544	CLIP-seq
MIRT1248336	hsa-miR-568	CLIP-seq
MIRT1248337	hsa-miR-576-5p	CLIP-seq
MIRT1248338	hsa-miR-643	CLIP-seq
MIRT1248339	hsa-miR-767-5p	CLIP-seq
MIRT1248340	hsa-miR-873	CLIP-seq
MIRT1248341	hsa-miR-1224-5p	CLIP-seq
MIRT1248342	hsa-miR-1321	CLIP-seq
MIRT1248343	hsa-miR-1324	CLIP-seq
MIRT1248344	hsa-miR-2054	CLIP-seq
MIRT1248345	hsa-miR-21	CLIP-seq
MIRT1248346	hsa-miR-218	CLIP-seq
MIRT1248347	hsa-miR-3148	CLIP-seq
MIRT1248348	hsa-miR-3162-5p	CLIP-seq
MIRT1248349	hsa-miR-3200-5p	CLIP-seq
MIRT1248350	hsa-miR-3617	CLIP-seq
MIRT1248351	hsa-miR-3622b-5p	CLIP-seq
MIRT1248352	hsa-miR-3682-3p	CLIP-seq
MIRT1248353	hsa-miR-3688-5p	CLIP-seq
MIRT1248354	hsa-miR-3978	CLIP-seq
MIRT1248355	hsa-miR-4263	CLIP-seq
MIRT1248356	hsa-miR-4464	CLIP-seq
MIRT1248357	hsa-miR-4480	CLIP-seq
MIRT1248358	hsa-miR-4645-5p	CLIP-seq
MIRT1248359	hsa-miR-4649-3p	CLIP-seq
MIRT1248360	hsa-miR-4673	CLIP-seq
MIRT1248361	hsa-miR-4739	CLIP-seq
MIRT1248362	hsa-miR-4748	CLIP-seq
MIRT1248363	hsa-miR-4751	CLIP-seq
MIRT1248364	hsa-miR-4755-3p	CLIP-seq
MIRT1248365	hsa-miR-4756-5p	CLIP-seq
MIRT1248366	hsa-miR-4764-5p	CLIP-seq
MIRT1248367	hsa-miR-4778-3p	CLIP-seq
MIRT1248368	hsa-miR-488	CLIP-seq
MIRT1248336	hsa-miR-568	CLIP-seq
MIRT1248337	hsa-miR-576-5p	CLIP-seq
MIRT1248369	hsa-miR-590-5p	CLIP-seq
MIRT1248370	hsa-miR-604	CLIP-seq
MIRT1248371	hsa-miR-641	CLIP-seq
MIRT1248372	hsa-miR-647	CLIP-seq
MIRT1248319	hsa-miR-1252	CLIP-seq
MIRT2073304	hsa-miR-142-5p	CLIP-seq
MIRT2073305	hsa-miR-186	CLIP-seq
MIRT2073306	hsa-miR-3133	CLIP-seq
MIRT2073307	hsa-miR-340	CLIP-seq
MIRT1248356	hsa-miR-4464	CLIP-seq
MIRT2073308	hsa-miR-4490	CLIP-seq
MIRT2073309	hsa-miR-4691-5p	CLIP-seq
MIRT1248362	hsa-miR-4748	CLIP-seq
MIRT1248368	hsa-miR-488	CLIP-seq
MIRT2073310	hsa-miR-552	CLIP-seq
MIRT1248337	hsa-miR-576-5p	CLIP-seq
MIRT2073311	hsa-miR-642b	CLIP-seq
MIRT2300394	hsa-miR-423-3p	CLIP-seq
MIRT2300395	hsa-miR-4660	CLIP-seq
MIRT2300396	hsa-miR-4730	CLIP-seq
MIRT2073311	hsa-miR-642b	CLIP-seq
MIRT2300397	hsa-miR-646	CLIP-seq
MIRT2300398	hsa-miR-4325	CLIP-seq
MIRT2300399	hsa-miR-507	CLIP-seq
MIRT2300400	hsa-miR-557	CLIP-seq
MIRT2597145	hsa-miR-1237	CLIP-seq
MIRT2597146	hsa-miR-1248	CLIP-seq
MIRT2597147	hsa-miR-1294	CLIP-seq
MIRT1248342	hsa-miR-1321	CLIP-seq
MIRT2597148	hsa-miR-141	CLIP-seq
MIRT2597149	hsa-miR-200a	CLIP-seq
MIRT2597150	hsa-miR-3119	CLIP-seq
MIRT2597151	hsa-miR-3145-5p	CLIP-seq
MIRT2597152	hsa-miR-3158-3p	CLIP-seq
MIRT1248348	hsa-miR-3162-5p	CLIP-seq
MIRT2597153	hsa-miR-3171	CLIP-seq
MIRT1248351	hsa-miR-3622b-5p	CLIP-seq
MIRT2597154	hsa-miR-3668	CLIP-seq
MIRT1248353	hsa-miR-3688-5p	CLIP-seq
MIRT2597155	hsa-miR-4316	CLIP-seq
MIRT1248361	hsa-miR-4739	CLIP-seq
MIRT1248364	hsa-miR-4755-3p	CLIP-seq
MIRT1248365	hsa-miR-4756-5p	CLIP-seq
MIRT1248366	hsa-miR-4764-5p	CLIP-seq
MIRT2597156	hsa-miR-4775	CLIP-seq
MIRT2597157	hsa-miR-494	CLIP-seq
MIRT2597158	hsa-miR-578	CLIP-seq
MIRT2597159	hsa-miR-590-3p	CLIP-seq
MIRT1248370	hsa-miR-604	CLIP-seq
MIRT1248372	hsa-miR-647	CLIP-seq
MIRT1248341	hsa-miR-1224-5p	CLIP-seq
MIRT2597145	hsa-miR-1237	CLIP-seq
MIRT2597146	hsa-miR-1248	CLIP-seq
MIRT1248342	hsa-miR-1321	CLIP-seq
MIRT2597148	hsa-miR-141	CLIP-seq
MIRT2597149	hsa-miR-200a	CLIP-seq
MIRT2597150	hsa-miR-3119	CLIP-seq
MIRT2597151	hsa-miR-3145-5p	CLIP-seq
MIRT2597152	hsa-miR-3158-3p	CLIP-seq
MIRT1248348	hsa-miR-3162-5p	CLIP-seq
MIRT2597153	hsa-miR-3171	CLIP-seq
MIRT1248349	hsa-miR-3200-5p	CLIP-seq
MIRT1248351	hsa-miR-3622b-5p	CLIP-seq
MIRT2597154	hsa-miR-3668	CLIP-seq
MIRT1248352	hsa-miR-3682-3p	CLIP-seq
MIRT1248353	hsa-miR-3688-5p	CLIP-seq
MIRT1248358	hsa-miR-4645-5p	CLIP-seq
MIRT1248359	hsa-miR-4649-3p	CLIP-seq
MIRT1248360	hsa-miR-4673	CLIP-seq
MIRT1248361	hsa-miR-4739	CLIP-seq
MIRT1248363	hsa-miR-4751	CLIP-seq
MIRT1248364	hsa-miR-4755-3p	CLIP-seq
MIRT1248365	hsa-miR-4756-5p	CLIP-seq
MIRT1248366	hsa-miR-4764-5p	CLIP-seq
MIRT2597158	hsa-miR-578	CLIP-seq
MIRT1248370	hsa-miR-604	CLIP-seq
MIRT1248372	hsa-miR-647	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000428	Component	DNA-directed RNA polymerase complex	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003899	Function	DNA-directed RNA polymerase activity	IBA
GO:0003899	Function	DNA-directed RNA polymerase activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 21988832, 25416956, 32296183, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005666	Component	RNA polymerase III complex	IBA
GO:0005666	Component	RNA polymerase III complex	IDA	33335104, 34675218
GO:0005730	Component	Nucleolus	IEA
GO:0005736	Component	RNA polymerase I complex	IBA
GO:0005736	Component	RNA polymerase I complex	IDA	34671025, 36271492
GO:0005736	Component	RNA polymerase I complex	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006362	Process	Transcription elongation by RNA polymerase I	IBA
GO:0006383	Process	Transcription by RNA polymerase III	IBA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0055029	Component	Nuclear DNA-directed RNA polymerase complex	IEA

MIM	HGNC	e!Ensembl
613715	20422	ENSG00000186184

P0DPB6

Protein name

DNA-directed RNA polymerases I and III subunit RPAC2 (RNA polymerases I and III subunit AC2) (AC19) (DNA-directed RNA polymerase I subunit D) (RNA polymerase I 16 kDa subunit) (RPA16) (RPC16) (hRPA19)

Protein function

DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and short non-coding RNAs

PDB

7A6H , 7AE1 , 7AE3 , 7AEA , 7AST , 7D58 , 7D59 , 7DN3 , 7DU2 , 7FJI , 7FJJ , 7OB9 , 7OBA , 7OBB , 7VBA , 7VBB , 7VBC , 8A43 , 8ITY , 8IUE , 8IUH , 9FSO , 9FSP , 9FSQ , 9FSR , 9FSS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13656	RNA_pol_L_2	39 → 113	RNA polymerase Rpb3/Rpb11 dimerisation domain	Domain

Sequence

MEEDQELERKISGLKTSMAEGERKTALEMVQAAGTDRHCVTFVLHEEDHTLGNSLRYMIM
KNPEVEFCGYTTTHPSESKINLRIQTRGTLPAVEPFQRGLNELMNVCQHVLDKFEASIKD
YKDQKASRNESTF

Sequence length

133

P0DPB5

Protein name

Protein POLR1D, isoform 2

Family and domains

Sequence

MEEDQELERKAIEELLKEAKRGKTRAETMGPMGWMKCPLASTNKRFLINTIKNTLPSHKE
QDHEQKEGDKEPAKSQAQKEENPKKHRSHPYKHSFRARGSASYSPPRKRSSQDKYEKRSN
RR

Sequence length

122

Interactions

View interactions

	KEGG		Reactome
	RNA polymerase Cytosolic DNA-sensing pathway		Cytosolic sensors of pathogen-associated DNA B-WICH complex positively regulates rRNA expression RNA Polymerase I Transcription Initiation RNA Polymerase I Promoter Escape RNA Polymerase I Transcription Termination RNA Polymerase III Transcription Initiation From Type 1 Promoter RNA Polymerase III Transcription Initiation From Type 2 Promoter RNA Polymerase III Transcription Initiation From Type 3 Promoter

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
POLR1D-related disorder	Likely pathogenic	rs2500475304, rs2500474635	RCV003402567 RCV003894390	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Treacher Collins syndrome	Pathogenic	rs587777841	RCV003319179	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Treacher Collins syndrome 2	Pathogenic; Likely pathogenic	rs587777841, rs2138519077, rs2500474424, rs2500474235, rs1593275599, rs767196650, rs1593275448, rs2138519194, rs1593275616, rs1593275363	RCV000144520 RCV002269139 RCV002283731 RCV002474262 RCV000024043 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFUSE LARGE B-CELL LYMPHOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MANDIBULOFACIAL DYSOSTOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SIALOLITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREACHER-COLLINS SYNDROME	—	GenCC, Orphanet GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (90)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	27602772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	30479078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asphyxia Neonatorum	Postnatal asphyxia	BEFREE	9450498		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	39217320	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	33804237	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	33804237	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30582221, 31722331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19359472, 32087735	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	29128566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of thymus	Congenital Hypoplasia Of Thymus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	GENOMICS_ENGLAND_DG	8955128, 9653160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	37197783	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28272532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	31089205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	31368241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	31368241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Elejalde Disease	Hereditary elliptocytosis	Pubtator	31089205	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Enchondromatosis	Enchondromatosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fistula of branchial cleft	Fistula Of Branchial Cleft	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31054101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31054101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glossoptosis	Glossoptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	33005949	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	33005949	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome	Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	26151409, 28051070, 31368241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Hypomyelinating with Hypodontia and Hypogonadotropic Hypogonadism	Hypomyelinating leukodystrophy	Pubtator	28589944, 33005949, 36042647	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	26151409, 28051070, 31368241, 33005949, 36042647, 37197783, 40176224	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
LEUKODYSTROPHY, HYPOMYELINATING, 11	Leukodystrophy	GENOMICS_ENGLAND_DG	24357685, 26151409		★★★★★ ★☆☆☆☆ Found in Text Mining only
LEUKODYSTROPHY, HYPOMYELINATING, 11	Leukodystrophy	UNIPROT_DG	26151409		★★★★★ ★☆☆☆☆ Found in Text Mining only
LEUKODYSTROPHY, HYPOMYELINATING, 11	Leukodystrophy	CLINVAR_DG	610060		★★★★★ ★☆☆☆☆ Found in Text Mining only
LEUKODYSTROPHY, HYPOMYELINATING, 11	Leukodystrophy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism	Hypomyelinating Leukodystrophy, With Hypodontia And Hypogonadotropic Hypogonadism	ORPHANET_DG	26151409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mandibulofacial Dysostosis	Mandibulofacial Dysostosis	BEFREE	21131976, 22729243, 23838542, 24603435, 24690222, 25348728, 26151409, 26972049, 27448281, 28051070, 28263850, 29128566, 29567474, 30957429		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mandibulofacial Dysostosis	Mandibulofacial Dysostosis	CTD_human_DG	21131976		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mandibulofacial Dysostosis	Mandibulofacial dysostosis	Pubtator	24603435, 25790162, 26151409, 28051070, 31307516, 32537850, 37197783, 37222571, 39518953	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mandibulofacial Dysostosis	Mandibulofacial Dysostosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive	Mandibulofacial Dysostosis	GENOMICS_ENGLAND_DG	21131976, 9653160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive	Mandibulofacial Dysostosis	UNIPROT_DG	21131976, 26151409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive	Mandibulofacial Dysostosis	CLINVAR_DG	21131976, 26151409, 29567474		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive	Mandibulofacial Dysostosis	BEFREE	28272532, 29567474		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive	Mandibulofacial Dysostosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Methylmalonic acidemia with homocystinuria	Methylmalonic acidemia	Pubtator	33804237	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	23077530	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30316990		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic Dystonia	BEFREE	31368241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic dystonia	Pubtator	31368241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19359472, 30582221, 31722331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	28272532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31199560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	31199560	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	28272532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	31368241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	38256104	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Hypoplasia	Thyroid Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
TREACHER COLLINS SYNDROME 2	Treacher Collins syndrome	UNIPROT_DG	21131976		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TREACHER COLLINS SYNDROME 2	Treacher Collins syndrome	GENOMICS_ENGLAND_DG	21131976, 8955128		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TREACHER COLLINS SYNDROME 2	Treacher Collins syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TREACHER COLLINS SYNDROME 2	Treacher Collins syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Treacher-Collins syndrome	Treacher Collins syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

POLR1D (RNA polymerase I and III subunit D)