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	1911
Gene name	Polyhomeotic homolog 1
Gene symbol	PHC1
Synonyms (NCBI Gene)	EDR1HPH1MCPH11RAE28
Chromosome	12
Chromosome location	12p13.31
Summary	This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, th

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SNP ID	Visualize variation	Clinical significance	Consequence
rs587777036	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant

283

Show/Hide all (283)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050613	hsa-miR-20a-5p	CLASH	23622248
MIRT036290	hsa-miR-1229-3p	CLASH	23622248
MIRT526843	hsa-miR-6757-3p	PAR-CLIP	22012620
MIRT526842	hsa-miR-3192-5p	PAR-CLIP	22012620
MIRT526841	hsa-miR-4751	PAR-CLIP	22012620
MIRT526840	hsa-miR-7154-3p	PAR-CLIP	22012620
MIRT526839	hsa-miR-7106-5p	PAR-CLIP	22012620
MIRT526838	hsa-miR-149-3p	PAR-CLIP	22012620
MIRT526837	hsa-miR-4728-5p	PAR-CLIP	22012620
MIRT526836	hsa-miR-6785-5p	PAR-CLIP	22012620
MIRT526835	hsa-miR-6883-5p	PAR-CLIP	22012620
MIRT526834	hsa-miR-6799-5p	PAR-CLIP	22012620
MIRT526833	hsa-miR-6825-5p	PAR-CLIP	22012620
MIRT526832	hsa-miR-4723-5p	PAR-CLIP	22012620
MIRT526831	hsa-miR-5698	PAR-CLIP	22012620
MIRT526830	hsa-miR-6870-5p	PAR-CLIP	22012620
MIRT526829	hsa-miR-7111-5p	PAR-CLIP	22012620
MIRT526828	hsa-miR-6795-5p	PAR-CLIP	22012620
MIRT526827	hsa-miR-6887-5p	PAR-CLIP	22012620
MIRT526826	hsa-miR-5089-3p	PAR-CLIP	22012620
MIRT526825	hsa-miR-1273h-5p	PAR-CLIP	22012620
MIRT526824	hsa-miR-30b-3p	PAR-CLIP	22012620
MIRT526823	hsa-miR-3689a-3p	PAR-CLIP	22012620
MIRT526822	hsa-miR-3689b-3p	PAR-CLIP	22012620
MIRT526821	hsa-miR-3689c	PAR-CLIP	22012620
MIRT526820	hsa-miR-6779-5p	PAR-CLIP	22012620
MIRT526819	hsa-miR-6780a-5p	PAR-CLIP	22012620
MIRT526818	hsa-miR-6885-3p	PAR-CLIP	22012620
MIRT526843	hsa-miR-6757-3p	PAR-CLIP	22012620
MIRT526842	hsa-miR-3192-5p	PAR-CLIP	22012620
MIRT526841	hsa-miR-4751	PAR-CLIP	22012620
MIRT526840	hsa-miR-7154-3p	PAR-CLIP	22012620
MIRT526839	hsa-miR-7106-5p	PAR-CLIP	22012620
MIRT526838	hsa-miR-149-3p	PAR-CLIP	22012620
MIRT526837	hsa-miR-4728-5p	PAR-CLIP	22012620
MIRT526836	hsa-miR-6785-5p	PAR-CLIP	22012620
MIRT526835	hsa-miR-6883-5p	PAR-CLIP	22012620
MIRT526834	hsa-miR-6799-5p	PAR-CLIP	22012620
MIRT526833	hsa-miR-6825-5p	PAR-CLIP	22012620
MIRT526832	hsa-miR-4723-5p	PAR-CLIP	22012620
MIRT526831	hsa-miR-5698	PAR-CLIP	22012620
MIRT526830	hsa-miR-6870-5p	PAR-CLIP	22012620
MIRT526829	hsa-miR-7111-5p	PAR-CLIP	22012620
MIRT526828	hsa-miR-6795-5p	PAR-CLIP	22012620
MIRT526827	hsa-miR-6887-5p	PAR-CLIP	22012620
MIRT526826	hsa-miR-5089-3p	PAR-CLIP	22012620
MIRT526825	hsa-miR-1273h-5p	PAR-CLIP	22012620
MIRT526824	hsa-miR-30b-3p	PAR-CLIP	22012620
MIRT526823	hsa-miR-3689a-3p	PAR-CLIP	22012620
MIRT526822	hsa-miR-3689b-3p	PAR-CLIP	22012620
MIRT526821	hsa-miR-3689c	PAR-CLIP	22012620
MIRT526820	hsa-miR-6779-5p	PAR-CLIP	22012620
MIRT526819	hsa-miR-6780a-5p	PAR-CLIP	22012620
MIRT526818	hsa-miR-6885-3p	PAR-CLIP	22012620
MIRT1229452	hsa-miR-122	CLIP-seq
MIRT1229453	hsa-miR-1237	CLIP-seq
MIRT1229454	hsa-miR-1266	CLIP-seq
MIRT1229455	hsa-miR-1305	CLIP-seq
MIRT1229456	hsa-miR-1470	CLIP-seq
MIRT1229457	hsa-miR-149	CLIP-seq
MIRT1229458	hsa-miR-186	CLIP-seq
MIRT1229459	hsa-miR-192	CLIP-seq
MIRT1229460	hsa-miR-2114	CLIP-seq
MIRT1229461	hsa-miR-215	CLIP-seq
MIRT1229462	hsa-miR-24	CLIP-seq
MIRT1229463	hsa-miR-298	CLIP-seq
MIRT1229464	hsa-miR-3185	CLIP-seq
MIRT1229465	hsa-miR-3189-5p	CLIP-seq
MIRT1229466	hsa-miR-3198	CLIP-seq
MIRT1229467	hsa-miR-324-5p	CLIP-seq
MIRT1229468	hsa-miR-361-3p	CLIP-seq
MIRT1229469	hsa-miR-3620	CLIP-seq
MIRT1229470	hsa-miR-3646	CLIP-seq
MIRT1229471	hsa-miR-3662	CLIP-seq
MIRT1229472	hsa-miR-3671	CLIP-seq
MIRT1229473	hsa-miR-4270	CLIP-seq
MIRT1229474	hsa-miR-4284	CLIP-seq
MIRT1229475	hsa-miR-4309	CLIP-seq
MIRT1229476	hsa-miR-4441	CLIP-seq
MIRT1229477	hsa-miR-4518	CLIP-seq
MIRT1229478	hsa-miR-4540	CLIP-seq
MIRT1229479	hsa-miR-4667-3p	CLIP-seq
MIRT1229480	hsa-miR-4758-3p	CLIP-seq
MIRT1229481	hsa-miR-4765	CLIP-seq
MIRT1229482	hsa-miR-4777-5p	CLIP-seq
MIRT1229483	hsa-miR-518d-5p	CLIP-seq
MIRT1229484	hsa-miR-519b-5p	CLIP-seq
MIRT1229485	hsa-miR-519c-5p	CLIP-seq
MIRT1229486	hsa-miR-520c-5p	CLIP-seq
MIRT1229487	hsa-miR-526a	CLIP-seq
MIRT1229488	hsa-miR-548aa	CLIP-seq
MIRT1229489	hsa-miR-548ac	CLIP-seq
MIRT1229490	hsa-miR-548d-3p	CLIP-seq
MIRT1229491	hsa-miR-548z	CLIP-seq
MIRT1229492	hsa-miR-549	CLIP-seq
MIRT1229453	hsa-miR-1237	CLIP-seq
MIRT2067189	hsa-miR-4303	CLIP-seq
MIRT2294789	hsa-miR-1197	CLIP-seq
MIRT1229455	hsa-miR-1305	CLIP-seq
MIRT2067189	hsa-miR-4303	CLIP-seq
MIRT2294790	hsa-miR-513a-3p	CLIP-seq
MIRT2392457	hsa-miR-4443	CLIP-seq
MIRT2392458	hsa-miR-4654	CLIP-seq
MIRT2392459	hsa-miR-4769-5p	CLIP-seq
MIRT2456316	hsa-miR-103a	CLIP-seq
MIRT2456317	hsa-miR-107	CLIP-seq
MIRT2456318	hsa-miR-1184	CLIP-seq
MIRT1229460	hsa-miR-2114	CLIP-seq
MIRT2456319	hsa-miR-224	CLIP-seq
MIRT1229463	hsa-miR-298	CLIP-seq
MIRT2456320	hsa-miR-3064-3p	CLIP-seq
MIRT2456321	hsa-miR-3180-5p	CLIP-seq
MIRT2456322	hsa-miR-520a-5p	CLIP-seq
MIRT2456323	hsa-miR-525-5p	CLIP-seq
MIRT2456324	hsa-miR-922	CLIP-seq
MIRT2456320	hsa-miR-3064-3p	CLIP-seq
MIRT2456321	hsa-miR-3180-5p	CLIP-seq
MIRT2456322	hsa-miR-520a-5p	CLIP-seq
MIRT2456323	hsa-miR-525-5p	CLIP-seq
MIRT2592559	hsa-miR-1	CLIP-seq
MIRT2456316	hsa-miR-103a	CLIP-seq
MIRT2456317	hsa-miR-107	CLIP-seq
MIRT2456318	hsa-miR-1184	CLIP-seq
MIRT1229453	hsa-miR-1237	CLIP-seq
MIRT1229454	hsa-miR-1266	CLIP-seq
MIRT2592560	hsa-miR-1270	CLIP-seq
MIRT2592561	hsa-miR-1284	CLIP-seq
MIRT2592562	hsa-miR-1292	CLIP-seq
MIRT2592563	hsa-miR-1302	CLIP-seq
MIRT2592564	hsa-miR-142-5p	CLIP-seq
MIRT2592565	hsa-miR-146a	CLIP-seq
MIRT2592566	hsa-miR-146b-5p	CLIP-seq
MIRT1229457	hsa-miR-149	CLIP-seq
MIRT2592567	hsa-miR-191	CLIP-seq
MIRT2592568	hsa-miR-1912	CLIP-seq
MIRT2592569	hsa-miR-193a-3p	CLIP-seq
MIRT2592570	hsa-miR-193b	CLIP-seq
MIRT2592571	hsa-miR-203	CLIP-seq
MIRT2592572	hsa-miR-206	CLIP-seq
MIRT2592573	hsa-miR-208a	CLIP-seq
MIRT2592574	hsa-miR-208b	CLIP-seq
MIRT1229460	hsa-miR-2114	CLIP-seq
MIRT2592575	hsa-miR-22	CLIP-seq
MIRT2456319	hsa-miR-224	CLIP-seq
MIRT1229462	hsa-miR-24	CLIP-seq
MIRT1229463	hsa-miR-298	CLIP-seq
MIRT2456320	hsa-miR-3064-3p	CLIP-seq
MIRT2592576	hsa-miR-3064-5p	CLIP-seq
MIRT2592577	hsa-miR-3130-3p	CLIP-seq
MIRT2592578	hsa-miR-3130-5p	CLIP-seq
MIRT2592579	hsa-miR-3148	CLIP-seq
MIRT2456321	hsa-miR-3180-5p	CLIP-seq
MIRT1229465	hsa-miR-3189-5p	CLIP-seq
MIRT2592580	hsa-miR-3190	CLIP-seq
MIRT2592581	hsa-miR-3194-3p	CLIP-seq
MIRT2592582	hsa-miR-320a	CLIP-seq
MIRT2592583	hsa-miR-320b	CLIP-seq
MIRT2592584	hsa-miR-320c	CLIP-seq
MIRT2592585	hsa-miR-320d	CLIP-seq
MIRT2592586	hsa-miR-330-3p	CLIP-seq
MIRT2592587	hsa-miR-340	CLIP-seq
MIRT2592588	hsa-miR-3607-3p	CLIP-seq
MIRT2592589	hsa-miR-3652	CLIP-seq
MIRT2592590	hsa-miR-3661	CLIP-seq
MIRT2592591	hsa-miR-3667-5p	CLIP-seq
MIRT1229472	hsa-miR-3671	CLIP-seq
MIRT2592592	hsa-miR-3673	CLIP-seq
MIRT2592593	hsa-miR-3691-3p	CLIP-seq
MIRT2592594	hsa-miR-378g	CLIP-seq
MIRT2592595	hsa-miR-3909	CLIP-seq
MIRT2592596	hsa-miR-3911	CLIP-seq
MIRT2592597	hsa-miR-3919	CLIP-seq
MIRT2592598	hsa-miR-3924	CLIP-seq
MIRT2592599	hsa-miR-3929	CLIP-seq
MIRT1229473	hsa-miR-4270	CLIP-seq
MIRT2592600	hsa-miR-4275	CLIP-seq
MIRT1229474	hsa-miR-4284	CLIP-seq
MIRT2592601	hsa-miR-4298	CLIP-seq
MIRT2592602	hsa-miR-432	CLIP-seq
MIRT2592603	hsa-miR-4419b	CLIP-seq
MIRT2592604	hsa-miR-4429	CLIP-seq
MIRT2592605	hsa-miR-4430	CLIP-seq
MIRT2592606	hsa-miR-4434	CLIP-seq
MIRT1229476	hsa-miR-4441	CLIP-seq
MIRT2592607	hsa-miR-4450	CLIP-seq
MIRT2592608	hsa-miR-4455	CLIP-seq
MIRT2592609	hsa-miR-4478	CLIP-seq
MIRT2592610	hsa-miR-4482	CLIP-seq
MIRT2592611	hsa-miR-4505	CLIP-seq
MIRT2592612	hsa-miR-4516	CLIP-seq
MIRT1229477	hsa-miR-4518	CLIP-seq
MIRT2592613	hsa-miR-4531	CLIP-seq
MIRT1229478	hsa-miR-4540	CLIP-seq
MIRT2592614	hsa-miR-455-5p	CLIP-seq
MIRT2592615	hsa-miR-4648	CLIP-seq
MIRT2592616	hsa-miR-4652-3p	CLIP-seq
MIRT2592617	hsa-miR-4659a-5p	CLIP-seq
MIRT2592618	hsa-miR-4659b-5p	CLIP-seq
MIRT2592619	hsa-miR-4667-5p	CLIP-seq
MIRT2592620	hsa-miR-4691-3p	CLIP-seq
MIRT2592621	hsa-miR-4691-5p	CLIP-seq
MIRT2592622	hsa-miR-4700-5p	CLIP-seq
MIRT2592623	hsa-miR-4710	CLIP-seq
MIRT2592624	hsa-miR-4711-3p	CLIP-seq
MIRT2592625	hsa-miR-4713-3p	CLIP-seq
MIRT2592626	hsa-miR-4721	CLIP-seq
MIRT2592627	hsa-miR-4722-3p	CLIP-seq
MIRT2592628	hsa-miR-4731-5p	CLIP-seq
MIRT1229480	hsa-miR-4758-3p	CLIP-seq
MIRT2592629	hsa-miR-4769-3p	CLIP-seq
MIRT1229482	hsa-miR-4777-5p	CLIP-seq
MIRT2592630	hsa-miR-4778-3p	CLIP-seq
MIRT2592631	hsa-miR-4792	CLIP-seq
MIRT2592632	hsa-miR-4795-5p	CLIP-seq
MIRT2592633	hsa-miR-490-5p	CLIP-seq
MIRT2592634	hsa-miR-499-5p	CLIP-seq
MIRT2592635	hsa-miR-502-5p	CLIP-seq
MIRT2592636	hsa-miR-508-5p	CLIP-seq
MIRT2294790	hsa-miR-513a-3p	CLIP-seq
MIRT1229483	hsa-miR-518d-5p	CLIP-seq
MIRT1229484	hsa-miR-519b-5p	CLIP-seq
MIRT1229485	hsa-miR-519c-5p	CLIP-seq
MIRT2456322	hsa-miR-520a-5p	CLIP-seq
MIRT1229486	hsa-miR-520c-5p	CLIP-seq
MIRT2592637	hsa-miR-522	CLIP-seq
MIRT2456323	hsa-miR-525-5p	CLIP-seq
MIRT1229487	hsa-miR-526a	CLIP-seq
MIRT2592638	hsa-miR-548a-5p	CLIP-seq
MIRT2592639	hsa-miR-548ab	CLIP-seq
MIRT2592640	hsa-miR-548ag	CLIP-seq
MIRT2592641	hsa-miR-548ai	CLIP-seq
MIRT2592642	hsa-miR-548ak	CLIP-seq
MIRT2592643	hsa-miR-548b-5p	CLIP-seq
MIRT2592644	hsa-miR-548c-5p	CLIP-seq
MIRT2592645	hsa-miR-548d-5p	CLIP-seq
MIRT2592646	hsa-miR-548h	CLIP-seq
MIRT2592647	hsa-miR-548i	CLIP-seq
MIRT2592648	hsa-miR-548j	CLIP-seq
MIRT2592649	hsa-miR-548k	CLIP-seq
MIRT2592650	hsa-miR-548l	CLIP-seq
MIRT2592651	hsa-miR-548w	CLIP-seq
MIRT2592652	hsa-miR-548y	CLIP-seq
MIRT1229492	hsa-miR-549	CLIP-seq
MIRT2592653	hsa-miR-559	CLIP-seq
MIRT2592654	hsa-miR-589	CLIP-seq
MIRT2592655	hsa-miR-609	CLIP-seq
MIRT2592656	hsa-miR-613	CLIP-seq
MIRT2592657	hsa-miR-620	CLIP-seq
MIRT2592658	hsa-miR-626	CLIP-seq
MIRT2592659	hsa-miR-630	CLIP-seq
MIRT2592660	hsa-miR-631	CLIP-seq
MIRT2592661	hsa-miR-665	CLIP-seq
MIRT2592662	hsa-miR-760	CLIP-seq
MIRT2592663	hsa-miR-892b	CLIP-seq
MIRT2456324	hsa-miR-922	CLIP-seq
MIRT2592560	hsa-miR-1270	CLIP-seq
MIRT1229458	hsa-miR-186	CLIP-seq
MIRT2592573	hsa-miR-208a	CLIP-seq
MIRT2592574	hsa-miR-208b	CLIP-seq
MIRT2456319	hsa-miR-224	CLIP-seq
MIRT1229463	hsa-miR-298	CLIP-seq
MIRT2456320	hsa-miR-3064-3p	CLIP-seq
MIRT2592578	hsa-miR-3130-5p	CLIP-seq
MIRT2456321	hsa-miR-3180-5p	CLIP-seq
MIRT2592590	hsa-miR-3661	CLIP-seq
MIRT2592591	hsa-miR-3667-5p	CLIP-seq
MIRT2592598	hsa-miR-3924	CLIP-seq
MIRT2592602	hsa-miR-432	CLIP-seq
MIRT2592606	hsa-miR-4434	CLIP-seq
MIRT2592610	hsa-miR-4482	CLIP-seq
MIRT2592612	hsa-miR-4516	CLIP-seq
MIRT2592613	hsa-miR-4531	CLIP-seq
MIRT2392458	hsa-miR-4654	CLIP-seq
MIRT2592621	hsa-miR-4691-5p	CLIP-seq
MIRT2392459	hsa-miR-4769-5p	CLIP-seq
MIRT2592634	hsa-miR-499-5p	CLIP-seq
MIRT2592635	hsa-miR-502-5p	CLIP-seq
MIRT2456322	hsa-miR-520a-5p	CLIP-seq
MIRT2456323	hsa-miR-525-5p	CLIP-seq
MIRT1229492	hsa-miR-549	CLIP-seq
MIRT2592657	hsa-miR-620	CLIP-seq
MIRT2592659	hsa-miR-630	CLIP-seq
MIRT2592660	hsa-miR-631	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001739	Component	Sex chromatin	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 19636380, 20601937, 23523425, 27705803, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	21282530
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9121482
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006338	Process	Chromatin remodeling	IMP	23418308
GO:0008270	Function	Zinc ion binding	IEA
GO:0016604	Component	Nuclear body	IEA
GO:0031519	Component	PcG protein complex	IDA	21282530
GO:0035102	Component	PRC1 complex	IBA
GO:0035102	Component	PRC1 complex	IDA	12167701, 19636380
GO:0035102	Component	PRC1 complex	IEA
GO:0042393	Function	Histone binding	IBA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0071300	Process	Cellular response to retinoic acid	IEA
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

MIM	HGNC	e!Ensembl
602978	3182	ENSG00000111752

P78364

Protein name

Polyhomeotic-like protein 1 (hPH1) (Early development regulatory protein 1)

Protein function

Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remod

PDB

2L8E

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16616	PHC2_SAM_assoc	828 → 935		Disordered
PF00536	SAM_1	938 → 1002	SAM domain (Sterile alpha motif)	Domain

Sequence

METESEQNSNSTNGSSSSGGSSRPQIAQMSLYERQAVQALQALQRQPNAAQYFHQFMLQQ
QLSNAQLHSLAAVQQATIAASRQASSPNTSTTQQQTTTTQASINLATTSAAQLISRSQSV
SSPSATTLTQSVLLGNTTSPPLNQSQAQMYLRPQLGNLLQVNRTLGRNVPLASQLILMPN
GAVAAVQQEVPSAQSPGVHADADQVQNLAVRNQQASAQGPQMQGSTQKAIPPGASPVSSL
SQASSQALAVAQASSGATNQSLNLSQAGGGSGNSIPGSMGPGGGGQAHGGLGQLPSSGMG
GGSCPRKGTGVVQPLPAAQTVTVSQGSQTEAESAAAKKAEADGSGQQNVGMNLTRTATPA
PSQTLISSATYTQIQPHSLIQQQQQIHLQQKQVVIQQQIAIHHQQQFQHRQSQLLHTATH
LQLAQQQQQQQQQQQQQQQPQATTLTAPQPPQVPPTQQVPPSQSQQQAQTLVVQPMLQSS
PLSLPPDAAPKPPIPIQSKPPVAPIKPPQLGAAKMSAAQQPPPHIPVQVVGTRQPGTAQA
QALGLAQLAAAVPTSRGMPGTVQSGQAHLASSPPSSQAPGALQECPPTLAPGMTLAPVQG
TAHVVKGGATTSSPVVAQVPAAFYMQSVHLPGKPQTLAVKRKADSEEERDDVSTLGSMLP
AKASPVAESPKVMDEKSSLGEKAESVANVNANTPSSELVALTPAPSVPPPTLAMVSRQMG
DSKPPQAIVKPQILTHIIEGFVIQEGAEPFPVGCSQLLKESEKPLQTGLPTGLTENQSGG
PLGVDSPSAELDKKANLLKCEYCGKYAPAEQFRGSKRFCSMTCAKRYNVSCSHQFRLKRK
KMKEFQEANYARVRRRGPRRSSSDIARAKIQGKCHRGQEDSSRGSDNSSYDEALSPTSPG
PLSVRAGHGERDLGNPNTAPPTPELHGINPVFLSSNPSRWSVEEVYEFIASLQGCQEIAE
EFRSQEIDGQALLLLKEEHLMSAMNIKLGPALKICAKINVLKET

Sequence length

1004

Interactions

View interactions

	KEGG		Reactome
	Polycomb repressive complex		Oxidative Stress Induced Senescence SUMOylation of DNA damage response and repair proteins SUMOylation of transcription cofactors SUMOylation of chromatin organization proteins SUMOylation of RNA binding proteins RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known Regulation of PTEN gene transcription Transcriptional Regulation by E2F6

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
Intellectual disability	Likely pathogenic; Pathogenic	rs587777036	RCV000162141	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly 11, primary, autosomal recessive	Pathogenic; Likely pathogenic	rs2137054010, rs587777036	RCV001806371 RCV000055626	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary microcephaly	Likely pathogenic; Pathogenic	rs587777036	RCV000162141	★★★★★ ★★★★☆ 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.
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PHC1-related disorder	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (37)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	11164110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	11164110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	27912196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	19066215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Microcephaly	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive primary microcephaly	Microcephaly	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	11164110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	12122109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	12122109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16528373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Embryonal Neoplasm	Embryonal Neoplasm	CTD_human_DG	16168501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	CTD_human_DG	16168501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	18600258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	11164110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninaemia	Hyperphenylalaninemia	BEFREE	26254182, 28079055		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	11164110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	GENOMICS_ENGLAND_DG	23418308, 25548773, 25558065		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	UNIPROT_DG	23418308		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasms, Embryonal and Mixed	Neoplasm	CTD_human_DG	16168501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms, Germ Cell and Embryonal	Neoplasm	CTD_human_DG	16168501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pili torti-deafness syndrome	Pili Torti-Deafness Syndrome	BEFREE	18600258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	BEFREE	23418308		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	25548773		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary microcephaly	Microcephaly	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37143720	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	16528373	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

PHC1 (polyhomeotic homolog 1)