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	3664
Gene name	Interferon regulatory factor 6
Gene symbol	IRF6
Synonyms (NCBI Gene)	LPSOFC6PITPPSPPS1VWSVWS1
Chromosome	1
Chromosome location	1q32.2
Summary	This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein m

Show/Hide all (48)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28942093	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs28942094	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs28942095	G>A	Pathogenic	Coding sequence variant, missense variant
rs121434224	C>A	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs121434225	G>A	Pathogenic	Stop gained, coding sequence variant
rs121434226	G>A	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs121434227	C>A,T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs121434228	C>T	Pathogenic	Stop gained, coding sequence variant
rs121434229	C>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs121434230	G>A	Pathogenic	Missense variant, coding sequence variant
rs121434231	C>A	Pathogenic	Missense variant, coding sequence variant
rs200166664	C>A,G,T	Pathogenic	Missense variant, coding sequence variant
rs387906967	A>G	Pathogenic	Coding sequence variant, missense variant, intron variant
rs387906968	G>A	Pathogenic	Coding sequence variant, missense variant
rs397515434	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs587776569	GTCCAGCAGCTTGCTAGTG>T	Pathogenic	Coding sequence variant, inframe indel
rs769068305	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs781506407	C>A,T	Likely-pathogenic	Splice donor variant
rs886038202	A>G	Pathogenic	Coding sequence variant, missense variant
rs886039388	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs886039389	C>T	Pathogenic	Coding sequence variant, stop gained
rs886039390	C>T	Pathogenic	Splice acceptor variant
rs886039391	G>A	Pathogenic	Coding sequence variant, stop gained
rs886039570	C>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs886041484	T>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1057517975	C>T	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1057520168	TCACCAGAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057520569	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1057520738	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057521133	T>C	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1057523749	A>C	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1060499555	A>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1064793155	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1064797000	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553247595	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553247602	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553247774	C>T	Pathogenic	Coding sequence variant, missense variant
rs1553247877	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553248271	T>C	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs1553248635	C>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1553248638	->A	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1553248640	C>T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1553248641	G>A	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, missense variant
rs1558038218	GGTACAGCTGC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571979802	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571983348	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1571983440	G>A	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1571986293	G>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant

242

Show/Hide all (242)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018970	hsa-miR-335-5p	Microarray	18185580
MIRT1071346	hsa-miR-1208	CLIP-seq
MIRT1071347	hsa-miR-1252	CLIP-seq
MIRT1071348	hsa-miR-1256	CLIP-seq
MIRT1071349	hsa-miR-1270	CLIP-seq
MIRT1071350	hsa-miR-1273f	CLIP-seq
MIRT1071351	hsa-miR-1283	CLIP-seq
MIRT1071352	hsa-miR-1303	CLIP-seq
MIRT1071353	hsa-miR-1324	CLIP-seq
MIRT1071354	hsa-miR-141	CLIP-seq
MIRT1071355	hsa-miR-146a	CLIP-seq
MIRT1071356	hsa-miR-146b-5p	CLIP-seq
MIRT1071357	hsa-miR-200a	CLIP-seq
MIRT1071358	hsa-miR-299-5p	CLIP-seq
MIRT1071359	hsa-miR-3074-3p	CLIP-seq
MIRT1071360	hsa-miR-3123	CLIP-seq
MIRT1071361	hsa-miR-3163	CLIP-seq
MIRT1071362	hsa-miR-3169	CLIP-seq
MIRT1071363	hsa-miR-3185	CLIP-seq
MIRT1071364	hsa-miR-320a	CLIP-seq
MIRT1071365	hsa-miR-320b	CLIP-seq
MIRT1071366	hsa-miR-320c	CLIP-seq
MIRT1071367	hsa-miR-320d	CLIP-seq
MIRT1071368	hsa-miR-320e	CLIP-seq
MIRT1071369	hsa-miR-338-5p	CLIP-seq
MIRT1071370	hsa-miR-340	CLIP-seq
MIRT1071371	hsa-miR-3657	CLIP-seq
MIRT1071372	hsa-miR-3667-5p	CLIP-seq
MIRT1071373	hsa-miR-3675-3p	CLIP-seq
MIRT1071374	hsa-miR-3925-3p	CLIP-seq
MIRT1071375	hsa-miR-3925-5p	CLIP-seq
MIRT1071376	hsa-miR-3942-5p	CLIP-seq
MIRT1071377	hsa-miR-4263	CLIP-seq
MIRT1071378	hsa-miR-4266	CLIP-seq
MIRT1071379	hsa-miR-4305	CLIP-seq
MIRT1071380	hsa-miR-4311	CLIP-seq
MIRT1071381	hsa-miR-4426	CLIP-seq
MIRT1071382	hsa-miR-4429	CLIP-seq
MIRT1071383	hsa-miR-4434	CLIP-seq
MIRT1071384	hsa-miR-4449	CLIP-seq
MIRT1071385	hsa-miR-4503	CLIP-seq
MIRT1071386	hsa-miR-4504	CLIP-seq
MIRT1071387	hsa-miR-4515	CLIP-seq
MIRT1071388	hsa-miR-4516	CLIP-seq
MIRT1071389	hsa-miR-451b	CLIP-seq
MIRT1071390	hsa-miR-4521	CLIP-seq
MIRT1071391	hsa-miR-4531	CLIP-seq
MIRT1071392	hsa-miR-4647	CLIP-seq
MIRT1071393	hsa-miR-4662b	CLIP-seq
MIRT1071394	hsa-miR-4668-3p	CLIP-seq
MIRT1071395	hsa-miR-4669	CLIP-seq
MIRT1071396	hsa-miR-4683	CLIP-seq
MIRT1071397	hsa-miR-4684-5p	CLIP-seq
MIRT1071398	hsa-miR-4696	CLIP-seq
MIRT1071399	hsa-miR-4703-5p	CLIP-seq
MIRT1071400	hsa-miR-4712-5p	CLIP-seq
MIRT1071401	hsa-miR-4719	CLIP-seq
MIRT1071402	hsa-miR-4777-5p	CLIP-seq
MIRT1071403	hsa-miR-487a	CLIP-seq
MIRT1071404	hsa-miR-516a-3p	CLIP-seq
MIRT1071405	hsa-miR-518d-5p	CLIP-seq
MIRT1071406	hsa-miR-519b-5p	CLIP-seq
MIRT1071407	hsa-miR-519c-5p	CLIP-seq
MIRT1071408	hsa-miR-520c-5p	CLIP-seq
MIRT1071409	hsa-miR-526a	CLIP-seq
MIRT1071410	hsa-miR-542-3p	CLIP-seq
MIRT1071411	hsa-miR-548c-3p	CLIP-seq
MIRT1071412	hsa-miR-548m	CLIP-seq
MIRT1071413	hsa-miR-577	CLIP-seq
MIRT1071414	hsa-miR-589	CLIP-seq
MIRT1071415	hsa-miR-603	CLIP-seq
MIRT1071416	hsa-miR-620	CLIP-seq
MIRT1071417	hsa-miR-656	CLIP-seq
MIRT1071418	hsa-miR-758	CLIP-seq
MIRT1071419	hsa-miR-770-5p	CLIP-seq
MIRT1071420	hsa-miR-885-3p	CLIP-seq
MIRT1071421	hsa-miR-892a	CLIP-seq
MIRT1071346	hsa-miR-1208	CLIP-seq
MIRT1071422	hsa-miR-1224-5p	CLIP-seq
MIRT1071349	hsa-miR-1270	CLIP-seq
MIRT1071423	hsa-miR-1273e	CLIP-seq
MIRT1071424	hsa-miR-130a	CLIP-seq
MIRT1071425	hsa-miR-130b	CLIP-seq
MIRT1071426	hsa-miR-148a	CLIP-seq
MIRT1071427	hsa-miR-148b	CLIP-seq
MIRT1071428	hsa-miR-150	CLIP-seq
MIRT1071429	hsa-miR-152	CLIP-seq
MIRT1071430	hsa-miR-155	CLIP-seq
MIRT1071431	hsa-miR-2115	CLIP-seq
MIRT1071432	hsa-miR-301a	CLIP-seq
MIRT1071433	hsa-miR-301b	CLIP-seq
MIRT1071362	hsa-miR-3169	CLIP-seq
MIRT1071434	hsa-miR-3666	CLIP-seq
MIRT1071435	hsa-miR-3690	CLIP-seq
MIRT1071436	hsa-miR-3915	CLIP-seq
MIRT1071437	hsa-miR-3928	CLIP-seq
MIRT1071438	hsa-miR-4254	CLIP-seq
MIRT1071377	hsa-miR-4263	CLIP-seq
MIRT1071439	hsa-miR-4264	CLIP-seq
MIRT1071440	hsa-miR-4287	CLIP-seq
MIRT1071441	hsa-miR-4295	CLIP-seq
MIRT1071383	hsa-miR-4434	CLIP-seq
MIRT1071442	hsa-miR-4496	CLIP-seq
MIRT1071385	hsa-miR-4503	CLIP-seq
MIRT1071386	hsa-miR-4504	CLIP-seq
MIRT1071387	hsa-miR-4515	CLIP-seq
MIRT1071388	hsa-miR-4516	CLIP-seq
MIRT1071390	hsa-miR-4521	CLIP-seq
MIRT1071391	hsa-miR-4531	CLIP-seq
MIRT1071443	hsa-miR-454	CLIP-seq
MIRT1071444	hsa-miR-4638-3p	CLIP-seq
MIRT1071445	hsa-miR-4646-3p	CLIP-seq
MIRT1071446	hsa-miR-4652-3p	CLIP-seq
MIRT1071447	hsa-miR-4662a-5p	CLIP-seq
MIRT1071448	hsa-miR-4671-3p	CLIP-seq
MIRT1071449	hsa-miR-4685-3p	CLIP-seq
MIRT1071450	hsa-miR-4689	CLIP-seq
MIRT1071451	hsa-miR-4713-5p	CLIP-seq
MIRT1071452	hsa-miR-4764-3p	CLIP-seq
MIRT1071453	hsa-miR-4797-3p	CLIP-seq
MIRT1071404	hsa-miR-516a-3p	CLIP-seq
MIRT1071454	hsa-miR-520f	CLIP-seq
MIRT1071455	hsa-miR-532-3p	CLIP-seq
MIRT1071456	hsa-miR-550a	CLIP-seq
MIRT1071457	hsa-miR-561	CLIP-seq
MIRT1071458	hsa-miR-587	CLIP-seq
MIRT1071416	hsa-miR-620	CLIP-seq
MIRT1071459	hsa-miR-622	CLIP-seq
MIRT1071460	hsa-miR-636	CLIP-seq
MIRT1071461	hsa-miR-645	CLIP-seq
MIRT1071420	hsa-miR-885-3p	CLIP-seq
MIRT2017564	hsa-miR-1285	CLIP-seq
MIRT2017565	hsa-miR-3164	CLIP-seq
MIRT2017566	hsa-miR-3187-5p	CLIP-seq
MIRT2017567	hsa-miR-4291	CLIP-seq
MIRT2017568	hsa-miR-4724-3p	CLIP-seq
MIRT2017569	hsa-miR-4778-5p	CLIP-seq
MIRT2017570	hsa-miR-545	CLIP-seq
MIRT2017571	hsa-miR-612	CLIP-seq
MIRT2017572	hsa-miR-661	CLIP-seq
MIRT2017573	hsa-miR-1298	CLIP-seq
MIRT2017574	hsa-miR-204	CLIP-seq
MIRT2017575	hsa-miR-211	CLIP-seq
MIRT2017565	hsa-miR-3164	CLIP-seq
MIRT1071364	hsa-miR-320a	CLIP-seq
MIRT1071365	hsa-miR-320b	CLIP-seq
MIRT1071366	hsa-miR-320c	CLIP-seq
MIRT1071367	hsa-miR-320d	CLIP-seq
MIRT2017576	hsa-miR-3919	CLIP-seq
MIRT1071382	hsa-miR-4429	CLIP-seq
MIRT1071385	hsa-miR-4503	CLIP-seq
MIRT2017577	hsa-miR-4758-5p	CLIP-seq
MIRT2017578	hsa-miR-4761-5p	CLIP-seq
MIRT2017579	hsa-miR-664	CLIP-seq
MIRT2249520	hsa-miR-1225-3p	CLIP-seq
MIRT2249521	hsa-miR-1233	CLIP-seq
MIRT1071423	hsa-miR-1273e	CLIP-seq
MIRT2017564	hsa-miR-1285	CLIP-seq
MIRT2017574	hsa-miR-204	CLIP-seq
MIRT2017575	hsa-miR-211	CLIP-seq
MIRT2249522	hsa-miR-3136-3p	CLIP-seq
MIRT1071362	hsa-miR-3169	CLIP-seq
MIRT2249523	hsa-miR-3183	CLIP-seq
MIRT2017566	hsa-miR-3187-5p	CLIP-seq
MIRT2249524	hsa-miR-335	CLIP-seq
MIRT2249525	hsa-miR-361-3p	CLIP-seq
MIRT2249526	hsa-miR-3674	CLIP-seq
MIRT2249527	hsa-miR-3679-3p	CLIP-seq
MIRT2017576	hsa-miR-3919	CLIP-seq
MIRT2249528	hsa-miR-4268	CLIP-seq
MIRT1071440	hsa-miR-4287	CLIP-seq
MIRT2249529	hsa-miR-4433	CLIP-seq
MIRT2249530	hsa-miR-4469	CLIP-seq
MIRT1071387	hsa-miR-4515	CLIP-seq
MIRT1071389	hsa-miR-451b	CLIP-seq
MIRT2249531	hsa-miR-4632	CLIP-seq
MIRT1071449	hsa-miR-4685-3p	CLIP-seq
MIRT1071398	hsa-miR-4696	CLIP-seq
MIRT2249532	hsa-miR-4723-3p	CLIP-seq
MIRT2249533	hsa-miR-4756-3p	CLIP-seq
MIRT2017571	hsa-miR-612	CLIP-seq
MIRT2249534	hsa-miR-642a	CLIP-seq
MIRT2017572	hsa-miR-661	CLIP-seq
MIRT2249535	hsa-miR-665	CLIP-seq
MIRT2249536	hsa-miR-3065-5p	CLIP-seq
MIRT2017565	hsa-miR-3164	CLIP-seq
MIRT1071368	hsa-miR-320e	CLIP-seq
MIRT2017576	hsa-miR-3919	CLIP-seq
MIRT1071415	hsa-miR-603	CLIP-seq
MIRT1071421	hsa-miR-892a	CLIP-seq
MIRT2249529	hsa-miR-4433	CLIP-seq
MIRT2451942	hsa-miR-3120-5p	CLIP-seq
MIRT2451943	hsa-miR-3613-3p	CLIP-seq
MIRT2451944	hsa-miR-3664-5p	CLIP-seq
MIRT2451945	hsa-miR-371-5p	CLIP-seq
MIRT2451946	hsa-miR-371b-5p	CLIP-seq
MIRT2451947	hsa-miR-4432	CLIP-seq
MIRT2451948	hsa-miR-4522	CLIP-seq
MIRT1071351	hsa-miR-1283	CLIP-seq
MIRT2017564	hsa-miR-1285	CLIP-seq
MIRT2249536	hsa-miR-3065-5p	CLIP-seq
MIRT2451942	hsa-miR-3120-5p	CLIP-seq
MIRT2017566	hsa-miR-3187-5p	CLIP-seq
MIRT2552995	hsa-miR-330-3p	CLIP-seq
MIRT2451943	hsa-miR-3613-3p	CLIP-seq
MIRT2451944	hsa-miR-3664-5p	CLIP-seq
MIRT1071373	hsa-miR-3675-3p	CLIP-seq
MIRT2451945	hsa-miR-371-5p	CLIP-seq
MIRT2451946	hsa-miR-371b-5p	CLIP-seq
MIRT2552996	hsa-miR-4252	CLIP-seq
MIRT2451947	hsa-miR-4432	CLIP-seq
MIRT1071389	hsa-miR-451b	CLIP-seq
MIRT2451948	hsa-miR-4522	CLIP-seq
MIRT1071397	hsa-miR-4684-5p	CLIP-seq
MIRT1071398	hsa-miR-4696	CLIP-seq
MIRT2552997	hsa-miR-4793-3p	CLIP-seq
MIRT2552998	hsa-miR-508-5p	CLIP-seq
MIRT2017571	hsa-miR-612	CLIP-seq
MIRT2017572	hsa-miR-661	CLIP-seq
MIRT2552999	hsa-miR-766	CLIP-seq
MIRT1071351	hsa-miR-1283	CLIP-seq
MIRT2017564	hsa-miR-1285	CLIP-seq
MIRT2249536	hsa-miR-3065-5p	CLIP-seq
MIRT2451942	hsa-miR-3120-5p	CLIP-seq
MIRT2017566	hsa-miR-3187-5p	CLIP-seq
MIRT2552995	hsa-miR-330-3p	CLIP-seq
MIRT2451943	hsa-miR-3613-3p	CLIP-seq
MIRT2451944	hsa-miR-3664-5p	CLIP-seq
MIRT1071373	hsa-miR-3675-3p	CLIP-seq
MIRT2451945	hsa-miR-371-5p	CLIP-seq
MIRT2451946	hsa-miR-371b-5p	CLIP-seq
MIRT2552996	hsa-miR-4252	CLIP-seq
MIRT2451947	hsa-miR-4432	CLIP-seq
MIRT1071389	hsa-miR-451b	CLIP-seq
MIRT2451948	hsa-miR-4522	CLIP-seq
MIRT1071397	hsa-miR-4684-5p	CLIP-seq
MIRT1071398	hsa-miR-4696	CLIP-seq
MIRT2552997	hsa-miR-4793-3p	CLIP-seq
MIRT2552998	hsa-miR-508-5p	CLIP-seq
MIRT2017571	hsa-miR-612	CLIP-seq
MIRT2017572	hsa-miR-661	CLIP-seq
MIRT2552999	hsa-miR-766	CLIP-seq

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0002376	Process	Immune system process	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0005515	Function	Protein binding	IPI	16049006, 21903422
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	16049006, 18212048
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	18212048
GO:0010839	Process	Negative regulation of keratinocyte proliferation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030216	Process	Keratinocyte differentiation	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	28473536
GO:0043588	Process	Skin development	IEA
GO:0043616	Process	Keratinocyte proliferation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	21807998
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048468	Process	Cell development	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060173	Process	Limb development	IEA
GO:0060644	Process	Mammary gland epithelial cell differentiation	IEA
GO:0060644	Process	Mammary gland epithelial cell differentiation	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0072089	Process	Stem cell proliferation	IEA
GO:1904888	Process	Cranial skeletal system development	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000647	Process	Negative regulation of stem cell proliferation	IEA

MIM	HGNC	e!Ensembl
607199	6121	ENSG00000117595

O14896

Protein name

Interferon regulatory factor 6 (IRF-6)

Protein function

Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferat

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00605	IRF	9 → 114	Interferon regulatory factor transcription factor	Domain
PF10401	IRF-3	223 → 407	Interferon-regulatory factor 3	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in normal mammary epithelial cells. Expression is reduced or absent in breast carcinomas. {ECO:0000269|PubMed:16049006}.

Sequence

MALHPRRVRLKPWLVAQVDSGLYPGLIWLHRDSKRFQIPWKHATRHSPQQEEENTIFKAW
AVETGKYQEGVDDPDPAKWKAQLRCALNKSREFNLMYDGTKEVPMNPVKIYQVCDIPQPQ
GSIINPGSTGSAPWDEKDNDVDEEDEEDELDQSQHHVPIQDTFPFLNINGSPMAPASVGN
CSVGNCSPEAVWPKTEPLEMEVPQAPIQPFYSSPELWISSLPMTDLDIKFQYRGKEYGQT
MTVSNPQGCRLFYGDLGPMPDQEELFGPVSLEQVKFPGPEHITNEKQKLFTSKLLDVMDR
GLILEVSGHAIYAIRLCQCKVYWSGPCAPSLVAPNLIERQKKVKLFCLETFLSDLIAHQK
GQIEKQPPFEIYLCFGEEWPDGKPLERKLILVQVIPVVARMIYEMFSGDFTRSFDSGSVR
LQISTPDIKDNIVAQLKQLYRILQTQESWQPMQPTPSMQLPPALPPQ

Sequence length

467

Interactions

View interactions

	Reactome
			Interferon gamma signaling Interferon alpha/beta signaling

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 (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant popliteal pterygium syndrome	Likely pathogenic; Pathogenic	rs121434226, rs121434227, rs769068305, rs886039391, rs2077902309	RCV001775062 RCV001775063 RCV005016559 RCV005016655 RCV001254350	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cleft palate	Likely pathogenic; Pathogenic	rs28942094	RCV000414901	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IRF6-related condition	Pathogenic; Likely pathogenic	rs2464669962, rs121434226, rs28942094, rs1057520738, rs1553248641, rs1553247774, rs1571986293, rs2077902309	RCV004758884 RCV004554583 RCV004730834 RCV004554773 RCV004758697 RCV004554796 RCV004554827 RCV004554854 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Orofacial cleft 6, susceptibility to	Pathogenic; Likely pathogenic	rs2077857559, rs2077939791, rs2077864704, rs2077874511, rs2102541666, rs2102542809, rs1322638469, rs2102536764, rs2102542857, rs2102538567, rs1399955256, rs2102542868, rs1224922793, rs2102536939, rs121434224 View all (41 more)	RCV002242060 RCV001347857 RCV001387736 RCV001385868 RCV001389069 View all (52 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Popliteal pterygium syndrome	Pathogenic; Likely pathogenic	rs2077857559, rs2077939791, rs2077864704, rs2077874511, rs2102541666, rs2102542809, rs1322638469, rs2102536764, rs2102542857, rs2102538567, rs1399955256, rs2102542868, rs1224922793, rs2102536939, rs121434224 View all (45 more)	RCV002242060 RCV001347857 RCV001387736 RCV001385868 RCV001389069 View all (57 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Van der Woude syndrome	Pathogenic; Likely pathogenic	rs2077857559, rs2077939791, rs2077864704, rs2077874511, rs2102541666, rs2102542809, rs1322638469, rs2102536764, rs2102542857, rs2102538567, rs1399955256, rs2102542868, rs1224922793, rs2102536939, rs121434224 View all (40 more)	RCV002242060 RCV001347857 RCV001387736 RCV001385868 RCV001389069 View all (51 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Van der Woude syndrome 1	Pathogenic; Likely pathogenic	rs200166664, rs2102537180, rs121434224, rs587776569, rs121434227, rs28942093, rs28942094, rs121434228, rs28942095, rs121434230, rs121434231, rs769068305, rs886039391, rs2464683525, rs1060499555 View all (10 more)	RCV000087748 RCV002272756 RCV000003580 RCV000003581 RCV001261361 View all (20 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (28)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT LIP	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Lip +/- Cleft Palate, Autosomal Dominant	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT LIP AND CLEFT OF ALVEOLAR PROCESS OF MAXILLA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE WITH CLEFT LIP	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF SKIN	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB DEFORMITIES, CONGENITAL	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofacial cleft 10	Uncertain significance; Benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Selective tooth agenesis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN ABNORMALITIES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH AGENESIS	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URANOSTAPHYLOSCHISIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (186)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	BEFREE	30689861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	17318851, 18790474, 20032603, 29893310	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29434563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29434563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	15367917, 18690351, 30601470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	33051600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	15367917, 18690351, 30601470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	17701593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant popliteal pterygium syndrome	Popliteal Pterygium Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Branchio-Oculo-Facial Syndrome	Branchiooculofacial Syndrome	BEFREE	21781438		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16049006, 26161746, 30579133, 31417306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16049006	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21807998	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28151706, 28322795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35441741	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	21807998	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24377609	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28600978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	40149423	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28526834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	40149423	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30089163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30089163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	31674732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	15317890, 15994871, 17438386, 17873121, 18278815, 18978678, 19401770, 19521098, 19734457, 23154523, 23510002, 24442519, 25081408, 25896037, 27321816 View all (10 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	15317890, 15558496, 15994871, 16132054, 17438386, 19115793, 19419265, 19536891, 20121942, 20564431, 21834040, 23166094, 23509905, 23510002, 23940636 View all (11 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	15317890, 15558496, 15994871, 17438386, 18278815, 19521098, 20652317, 23510002, 23940636, 24738728, 25081408, 25896037, 27706679, 27734840, 28712851 View all (10 more)	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cleft palate and bilateral cleft lip	Cleft Palate And Bilateral Cleft Lip	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
COCOON SYNDROME	Cocoon Syndrome	BEFREE	25691407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	21859832	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	33161410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30387230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35443865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	18978678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital abnormality of Eustachian tube	Congenital Abnormality Of Eustachian Tube	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of kidney	Renal agenesis	BEFREE	18478600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ankyloblepharon	Congenital Ankyloblepharon	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital lip pits	Congenital Lip Pits	BEFREE	21082654, 26332872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital lip pits	Congenital Lip Pits	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	10195920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	10195920, 28350812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10195920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	28769044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	12704363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	28067908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	28377460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous finger syndactyly	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	7527892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29971948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29434563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental absence of tooth	Anodontia	BEFREE	30195270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	28593555	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	27734840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	21447942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35993041	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	BEFREE	30689861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial benign pemphigus	Benign Pemphigus	BEFREE	25256005		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	30748020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	21046243, 28216979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	29971948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontonasal dysplasia	Frontonasal Dysplasia	BEFREE	24376213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	31150494		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glossoptosis	Glossoptosis	BEFREE	29708799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	15081257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegia	Hemiplegia	Pubtator	40149423	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	17043800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	18209213, 20032603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of vagina	Hypoplasia Of Vagina	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	18478600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	22721650	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	28067908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	CTD_human_DG	17041601		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	30579133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	30013178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	23428850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	23428850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	23428850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	23428850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrodontia	Macrodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16049006, 26161746, 30579133, 31417306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28151706, 28322795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	30579133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28588059, 31152147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24365597, 31019894, 31380415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27223861, 28151706, 28322795, 31417306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30089163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	30545388		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	28877249		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28877249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	28877249	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29434563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	29653377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30748020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	BEFREE	29708799, 30684382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple pterygium syndrome	Multiple Pterygium Syndrome	BEFREE	23713753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30013178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	30013178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	10195920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	29111349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	17878380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18212048, 21807998, 21909072, 28060726, 28151706, 28408528, 28588059, 28877249, 28898113, 29111349, 30387230, 31019894, 31417306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonketotic Hyperglycinemia	Nonketotic Hyperglycinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28645193, 29291424, 31760153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	BEFREE	21447942, 23510002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofacial cleft	Orofacial Cleft	BEFREE	27834299		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofacial Cleft 1	Orofacial cleft	Pubtator	15558496, 17318851, 17438386, 17564963, 21039277, 23940636, 24377609, 26346622, 27115562, 27527345, 32108996, 33137956, 33994351, 35191549, 35226971 View all (8 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
OROFACIAL CLEFT 1	Orofacial Cleft	BEFREE	23029012, 25896061, 27834299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 3	Orofacial cleft	Pubtator	19282774	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oropharyngeal Dysphagia	Oropharyngeal Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Otofaciocervical Syndrome	Otofaciocervical syndrome	Pubtator	26346622, 34242216, 35191549, 36901693	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
OTOFACIOCERVICAL SYNDROME 1	Otofaciocervical Syndrome	BEFREE	27834299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31674732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35012444	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35682857	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	18478600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	15627645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	28377460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Popliteal pterygium syndrome	Popliteal Pterygium Syndrome	GENOMICS_ENGLAND_DG	12219090, 20803643		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Popliteal pterygium syndrome	Popliteal Pterygium Syndrome	CLINVAR_DG	12219090, 15472655, 16160700, 18617879, 19036739, 19282774, 19449419, 21045959, 22488974, 23154523, 23394314, 25548624, 25784454, 27834299		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Popliteal pterygium syndrome	Popliteal Pterygium Syndrome	UNIPROT_DG	12219090, 14640121, 19036739, 20803643		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Popliteal pterygium syndrome	Popliteal Pterygium Syndrome	BEFREE	12920575, 15939375, 16160700, 17041603, 18478600, 19036739, 19282774, 19439425, 20803643, 23154523, 23394314, 25430793, 25441681, 25489771, 25691407 View all (5 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Popliteal Pterygium Syndrome	Popliteal pterygium syndrome	Pubtator	19282774, 23154523, 23510002, 25246526, 25547932, 25691407, 27115562, 31488442, 35906647, 36811272, 37107607	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Popliteal pterygium syndrome	Popliteal Pterygium Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE	Bartsocas-Papas syndrome	BEFREE	25430793, 25691407, 25784454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	30556461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	29971948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28588059, 31152147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	12219090, 15479962, 15939375, 16160700, 17318851, 23949966, 25430793, 25489771		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	LHGDN	12219090, 16160700, 19036739		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	21859832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
RENAL ADYSPLASIA	Renal Aplasia	BEFREE	18478600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	35672466	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29780528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	25256005		★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21807998, 24377609, 28481036, 30579133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	21798893, 24377609, 35664436	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of mouth	Oral cavity carcinoma	BEFREE	28923838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	21798893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of vulva	Carcinoma Of Vulva	BEFREE	27223861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	30748020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24365597, 31019894, 31380415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20507321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Submucous cleft palate	Submucosal cleft palate	BEFREE	29981310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	10417286, 12920575, 16245336, 19115793, 19439425, 19521098, 20184620, 20436469, 20652317, 20672350, 21082654, 23029012, 23394314, 27706679, 28712851, 28732181, 28769044, 29708799 View all (3 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uranostaphyloschisis	Uranostaphyloschisis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	10323740, 12219090, 12632105, 12920575, 12964020, 14618417, 14994877, 15013698, 15194649, 15558496, 15647839, 15939375, 16132054, 16211254, 16245336 View all (42 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Van der Woude syndrome	Van der woude syndrome	Pubtator	15317890, 15558496, 17318851, 17438386, 18278815, 19282774, 23154523, 23510002, 23949966, 24442519, 25579819, 26346622, 27115562, 29489415, 31488442 View all (8 more)	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Van der Woude syndrome	Van Der Woude Syndrome	CTD_human_DG	16211254, 16998136, 18813858		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Van der Woude syndrome	Van der woude syndrome	Pubtator	17873121	Inhibit	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Van der Woude syndrome	Van Der Woude Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Van der Woude syndrome	Van Der Woude Syndrome	ORPHANET_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Van der Woude syndrome	Van Der Woude Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
VAN DER WOUDE SYNDROME 1	Van der Woude syndrome	UNIPROT_DG	12219090, 12920575, 14618417, 14640121, 15300989, 17122170, 18478600, 19036739		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
VAN DER WOUDE SYNDROME 1	Van der Woude syndrome	CLINVAR_DG	12219090, 15472655, 16160700, 18617879, 19036739, 19282774, 19449419, 19623037, 21045959, 22488974, 23154523, 23394314, 25548624, 25784454, 27834299		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
VAN DER WOUDE SYNDROME 1	Van der Woude syndrome	GENOMICS_ENGLAND_DG	20803643		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
VAN DER WOUDE SYNDROME 1	Van der Woude syndrome	BEFREE	26332872		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Van der Woude syndrome 2	Van Der Woude Syndrome	BEFREE	21574244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome 2	Van der woude syndrome	Pubtator	36901693	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Velopharyngeal Insufficiency	Velopharyngeal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vulvar Lichen Sclerosus	Vulvar Lichen Sclerosus	BEFREE	27223861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Zlotogora-Ogur syndrome	Cleft lip/palate-ectodermal dysplasia syndrome	BEFREE	14994877		★★★★★ ★☆☆☆☆ Found in Text Mining only

IRF6 (interferon regulatory factor 6)