TGIF1 (TGFB induced factor homeobox 1)

Gene

• Entrez ID: 7050
• Gene name: TGFB induced factor homeobox 1
• Gene symbol: TGIF1
• Synonyms: HPE4, TGIF
• Chromosome: 18
• Chromosome location: 18p11.31
• Summary: The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously charact

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28939693	A>G,T	Pathogenic, likely-benign	Coding sequence variant, missense variant
rs121909066	C>G	Pathogenic	Missense variant, coding sequence variant
rs121909067	C>G	Pathogenic	Missense variant, coding sequence variant
rs121909068	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs121909069	C>T	Pathogenic	Missense variant, coding sequence variant
rs121909070	C>G	Pathogenic	Intron variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant
rs202123354	G>A	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, intron variant, genic upstream transcript variant, 5 prime UTR variant
rs886041249	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057517835	G>A	Pathogenic	Missense variant, coding sequence variant
rs1555650923	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555651112	->T	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004287	hsa-miR-21-5p	Western blot	19906824
MIRT641082	hsa-miR-186-5p	HITS-CLIP	23824327
MIRT641081	hsa-miR-6507-5p	HITS-CLIP	23824327
MIRT641080	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT483883	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT641079	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT641078	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT641077	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT641076	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT641075	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT483875	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT117352	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT117353	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT117361	hsa-miR-5692a	PAR-CLIP	21572407
MIRT117356	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT533834	hsa-miR-5700	PAR-CLIP	21572407
MIRT117357	hsa-miR-3163	PAR-CLIP	21572407
MIRT553661	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT117359	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT117352	hsa-miR-19a-3p	PAR-CLIP	22012620
MIRT117353	hsa-miR-19b-3p	PAR-CLIP	22012620
MIRT117356	hsa-miR-1277-5p	PAR-CLIP	22012620
MIRT533834	hsa-miR-5700	PAR-CLIP	22012620
MIRT533833	hsa-miR-3942-5p	PAR-CLIP	22012620
MIRT533832	hsa-miR-4703-5p	PAR-CLIP	22012620
MIRT533831	hsa-miR-3908	PAR-CLIP	22012620
MIRT533830	hsa-miR-374b-3p	PAR-CLIP	22012620
MIRT080071	hsa-miR-4717-3p	PAR-CLIP	22012620
MIRT533829	hsa-miR-520f-5p	PAR-CLIP	22012620
MIRT117362	hsa-miR-1253	PAR-CLIP	22012620
MIRT533828	hsa-miR-6770-5p	PAR-CLIP	22012620
MIRT080073	hsa-miR-6716-5p	PAR-CLIP	22012620
MIRT080057	hsa-miR-597-3p	PAR-CLIP	22012620
MIRT080059	hsa-miR-2117	PAR-CLIP	22012620
MIRT533827	hsa-miR-4684-5p	PAR-CLIP	22012620
MIRT080069	hsa-miR-3692-3p	PAR-CLIP	22012620
MIRT483889	hsa-miR-548c-3p	PAR-CLIP	23592263
MIRT483888	hsa-miR-495-3p	PAR-CLIP	23592263
MIRT483887	hsa-miR-5688	PAR-CLIP	23592263
MIRT483886	hsa-miR-7-1-3p	PAR-CLIP	23592263
MIRT483885	hsa-miR-7-2-3p	PAR-CLIP	23592263
MIRT483884	hsa-miR-9500	PAR-CLIP	23592263
MIRT483883	hsa-miR-3613-3p	PAR-CLIP	23592263
MIRT080071	hsa-miR-4717-3p	PAR-CLIP	23592263
MIRT483882	hsa-miR-3179	PAR-CLIP	23592263
MIRT117365	hsa-miR-3148	PAR-CLIP	23592263
MIRT483881	hsa-miR-3202	PAR-CLIP	23592263
MIRT483880	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT483878	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT483879	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT483877	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT483876	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT483875	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT641082	hsa-miR-186-5p	HITS-CLIP	23824327
MIRT641081	hsa-miR-6507-5p	HITS-CLIP	23824327
MIRT641080	hsa-miR-5003-3p	HITS-CLIP	23824327
MIRT483883	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT641079	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT641078	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT641077	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT641076	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT641075	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT483875	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT117352	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT117353	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT117361	hsa-miR-5692a	PAR-CLIP	21572407
MIRT117356	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT533834	hsa-miR-5700	PAR-CLIP	21572407
MIRT117357	hsa-miR-3163	PAR-CLIP	21572407
MIRT553661	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT117359	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT117352	hsa-miR-19a-3p	PAR-CLIP	22012620
MIRT117353	hsa-miR-19b-3p	PAR-CLIP	22012620
MIRT117356	hsa-miR-1277-5p	PAR-CLIP	22012620
MIRT533834	hsa-miR-5700	PAR-CLIP	22012620
MIRT533833	hsa-miR-3942-5p	PAR-CLIP	22012620
MIRT533832	hsa-miR-4703-5p	PAR-CLIP	22012620
MIRT533831	hsa-miR-3908	PAR-CLIP	22012620
MIRT533830	hsa-miR-374b-3p	PAR-CLIP	22012620
MIRT080071	hsa-miR-4717-3p	PAR-CLIP	22012620
MIRT533829	hsa-miR-520f-5p	PAR-CLIP	22012620
MIRT117362	hsa-miR-1253	PAR-CLIP	22012620
MIRT533828	hsa-miR-6770-5p	PAR-CLIP	22012620
MIRT080073	hsa-miR-6716-5p	PAR-CLIP	22012620
MIRT080057	hsa-miR-597-3p	PAR-CLIP	22012620
MIRT080059	hsa-miR-2117	PAR-CLIP	22012620
MIRT533827	hsa-miR-4684-5p	PAR-CLIP	22012620
MIRT080069	hsa-miR-3692-3p	PAR-CLIP	22012620
MIRT483889	hsa-miR-548c-3p	PAR-CLIP	23592263
MIRT483888	hsa-miR-495-3p	PAR-CLIP	23592263
MIRT483887	hsa-miR-5688	PAR-CLIP	23592263
MIRT483886	hsa-miR-7-1-3p	PAR-CLIP	23592263
MIRT483885	hsa-miR-7-2-3p	PAR-CLIP	23592263
MIRT483884	hsa-miR-9500	PAR-CLIP	23592263
MIRT483883	hsa-miR-3613-3p	PAR-CLIP	23592263
MIRT080071	hsa-miR-4717-3p	PAR-CLIP	23592263
MIRT483882	hsa-miR-3179	PAR-CLIP	23592263
MIRT117365	hsa-miR-3148	PAR-CLIP	23592263
MIRT483881	hsa-miR-3202	PAR-CLIP	23592263
MIRT483880	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT483878	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT483879	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT483877	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT483876	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT483875	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT755939	hsa-miR-299-3p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP), Immunohistochemistry (IHC), Flow cytometry, RNA pull down assay	38067260
MIRT1421559	hsa-miR-1	CLIP-seq
MIRT1421560	hsa-miR-101	CLIP-seq
MIRT1421561	hsa-miR-1292	CLIP-seq
MIRT1421562	hsa-miR-139-5p	CLIP-seq
MIRT1421563	hsa-miR-144	CLIP-seq
MIRT1421564	hsa-miR-146a	CLIP-seq
MIRT1421565	hsa-miR-146b-5p	CLIP-seq
MIRT1421566	hsa-miR-194	CLIP-seq
MIRT1421567	hsa-miR-19a	CLIP-seq
MIRT1421568	hsa-miR-19b	CLIP-seq
MIRT1421569	hsa-miR-2052	CLIP-seq
MIRT1421570	hsa-miR-206	CLIP-seq
MIRT1421571	hsa-miR-23a	CLIP-seq
MIRT1421572	hsa-miR-23b	CLIP-seq
MIRT1421573	hsa-miR-23c	CLIP-seq
MIRT1421574	hsa-miR-25	CLIP-seq
MIRT755939	hsa-miR-299-3p	CLIP-seq
MIRT1421575	hsa-miR-3145-3p	CLIP-seq
MIRT1421576	hsa-miR-3168	CLIP-seq
MIRT1421577	hsa-miR-32	CLIP-seq
MIRT1421578	hsa-miR-342-3p	CLIP-seq
MIRT1421579	hsa-miR-3617	CLIP-seq
MIRT1421580	hsa-miR-363	CLIP-seq
MIRT1421581	hsa-miR-3647-3p	CLIP-seq
MIRT1421582	hsa-miR-367	CLIP-seq
MIRT1421583	hsa-miR-3673	CLIP-seq
MIRT1421584	hsa-miR-3692	CLIP-seq
MIRT1421585	hsa-miR-3945	CLIP-seq
MIRT1421586	hsa-miR-412	CLIP-seq
MIRT1421587	hsa-miR-4251	CLIP-seq
MIRT1421588	hsa-miR-4253	CLIP-seq
MIRT1421589	hsa-miR-4264	CLIP-seq
MIRT1421590	hsa-miR-4265	CLIP-seq
MIRT1421591	hsa-miR-4296	CLIP-seq
MIRT1421592	hsa-miR-4297	CLIP-seq
MIRT1421593	hsa-miR-4303	CLIP-seq
MIRT1421594	hsa-miR-432	CLIP-seq
MIRT1421595	hsa-miR-4322	CLIP-seq
MIRT1421596	hsa-miR-4329	CLIP-seq
MIRT1421597	hsa-miR-4417	CLIP-seq
MIRT1421598	hsa-miR-4471	CLIP-seq
MIRT1421599	hsa-miR-4477a	CLIP-seq
MIRT1421600	hsa-miR-4491	CLIP-seq
MIRT1421601	hsa-miR-452	CLIP-seq
MIRT1421602	hsa-miR-4645-3p	CLIP-seq
MIRT1421603	hsa-miR-4657	CLIP-seq
MIRT1421604	hsa-miR-4676-3p	CLIP-seq
MIRT1421605	hsa-miR-4707-5p	CLIP-seq
MIRT1421606	hsa-miR-4709-3p	CLIP-seq
MIRT1421607	hsa-miR-4742-3p	CLIP-seq
MIRT1421608	hsa-miR-4760-3p	CLIP-seq
MIRT1421609	hsa-miR-4762-3p	CLIP-seq
MIRT1421610	hsa-miR-4766-3p	CLIP-seq
MIRT1421611	hsa-miR-4766-5p	CLIP-seq
MIRT1421612	hsa-miR-4793-5p	CLIP-seq
MIRT1421613	hsa-miR-4797-3p	CLIP-seq
MIRT1421614	hsa-miR-589	CLIP-seq
MIRT1421615	hsa-miR-613	CLIP-seq
MIRT1421616	hsa-miR-622	CLIP-seq
MIRT1421617	hsa-miR-630	CLIP-seq
MIRT1421618	hsa-miR-641	CLIP-seq
MIRT1421619	hsa-miR-802	CLIP-seq
MIRT1421620	hsa-miR-92a	CLIP-seq
MIRT1421621	hsa-miR-92b	CLIP-seq
MIRT1421622	hsa-miR-943	CLIP-seq
MIRT1421559	hsa-miR-1	CLIP-seq
MIRT1421561	hsa-miR-1292	CLIP-seq
MIRT1421563	hsa-miR-144	CLIP-seq
MIRT1421564	hsa-miR-146a	CLIP-seq
MIRT1421565	hsa-miR-146b-5p	CLIP-seq
MIRT1421566	hsa-miR-194	CLIP-seq
MIRT1421569	hsa-miR-2052	CLIP-seq
MIRT1421570	hsa-miR-206	CLIP-seq
MIRT1421574	hsa-miR-25	CLIP-seq
MIRT755939	hsa-miR-299-3p	CLIP-seq
MIRT1421575	hsa-miR-3145-3p	CLIP-seq
MIRT1421577	hsa-miR-32	CLIP-seq
MIRT1421579	hsa-miR-3617	CLIP-seq
MIRT1421580	hsa-miR-363	CLIP-seq
MIRT1421582	hsa-miR-367	CLIP-seq
MIRT1421583	hsa-miR-3673	CLIP-seq
MIRT1421584	hsa-miR-3692	CLIP-seq
MIRT1421585	hsa-miR-3945	CLIP-seq
MIRT1421586	hsa-miR-412	CLIP-seq
MIRT1421587	hsa-miR-4251	CLIP-seq
MIRT1421588	hsa-miR-4253	CLIP-seq
MIRT1421589	hsa-miR-4264	CLIP-seq
MIRT1421590	hsa-miR-4265	CLIP-seq
MIRT1421591	hsa-miR-4296	CLIP-seq
MIRT1421592	hsa-miR-4297	CLIP-seq
MIRT1421593	hsa-miR-4303	CLIP-seq
MIRT1421595	hsa-miR-4322	CLIP-seq
MIRT1421596	hsa-miR-4329	CLIP-seq
MIRT1421597	hsa-miR-4417	CLIP-seq
MIRT1421598	hsa-miR-4471	CLIP-seq
MIRT1421599	hsa-miR-4477a	CLIP-seq
MIRT1421600	hsa-miR-4491	CLIP-seq
MIRT1421601	hsa-miR-452	CLIP-seq
MIRT1421602	hsa-miR-4645-3p	CLIP-seq
MIRT1421603	hsa-miR-4657	CLIP-seq
MIRT1421604	hsa-miR-4676-3p	CLIP-seq
MIRT1421605	hsa-miR-4707-5p	CLIP-seq
MIRT1421606	hsa-miR-4709-3p	CLIP-seq
MIRT1421607	hsa-miR-4742-3p	CLIP-seq
MIRT1421608	hsa-miR-4760-3p	CLIP-seq
MIRT1421609	hsa-miR-4762-3p	CLIP-seq
MIRT1421610	hsa-miR-4766-3p	CLIP-seq
MIRT1421611	hsa-miR-4766-5p	CLIP-seq
MIRT1421612	hsa-miR-4793-5p	CLIP-seq
MIRT1421613	hsa-miR-4797-3p	CLIP-seq
MIRT1421623	hsa-miR-495	CLIP-seq
MIRT1421614	hsa-miR-589	CLIP-seq
MIRT1421615	hsa-miR-613	CLIP-seq
MIRT1421616	hsa-miR-622	CLIP-seq
MIRT1421617	hsa-miR-630	CLIP-seq
MIRT1421618	hsa-miR-641	CLIP-seq
MIRT1421619	hsa-miR-802	CLIP-seq
MIRT1421620	hsa-miR-92a	CLIP-seq
MIRT1421621	hsa-miR-92b	CLIP-seq
MIRT1421622	hsa-miR-943	CLIP-seq
MIRT1421559	hsa-miR-1	CLIP-seq
MIRT1421563	hsa-miR-144	CLIP-seq
MIRT1421564	hsa-miR-146a	CLIP-seq
MIRT1421565	hsa-miR-146b-5p	CLIP-seq
MIRT1421566	hsa-miR-194	CLIP-seq
MIRT1421567	hsa-miR-19a	CLIP-seq
MIRT1421568	hsa-miR-19b	CLIP-seq
MIRT1421569	hsa-miR-2052	CLIP-seq
MIRT1421570	hsa-miR-206	CLIP-seq
MIRT1421576	hsa-miR-3168	CLIP-seq
MIRT1421579	hsa-miR-3617	CLIP-seq
MIRT1421581	hsa-miR-3647-3p	CLIP-seq
MIRT1421583	hsa-miR-3673	CLIP-seq
MIRT1421584	hsa-miR-3692	CLIP-seq
MIRT1421585	hsa-miR-3945	CLIP-seq
MIRT1421587	hsa-miR-4251	CLIP-seq
MIRT1421588	hsa-miR-4253	CLIP-seq
MIRT1421589	hsa-miR-4264	CLIP-seq
MIRT1421593	hsa-miR-4303	CLIP-seq
MIRT1421594	hsa-miR-432	CLIP-seq
MIRT1421596	hsa-miR-4329	CLIP-seq
MIRT1421601	hsa-miR-452	CLIP-seq
MIRT1421604	hsa-miR-4676-3p	CLIP-seq
MIRT1421606	hsa-miR-4709-3p	CLIP-seq
MIRT1421607	hsa-miR-4742-3p	CLIP-seq
MIRT1421609	hsa-miR-4762-3p	CLIP-seq
MIRT1421610	hsa-miR-4766-3p	CLIP-seq
MIRT1421612	hsa-miR-4793-5p	CLIP-seq
MIRT1421613	hsa-miR-4797-3p	CLIP-seq
MIRT1421614	hsa-miR-589	CLIP-seq
MIRT1421615	hsa-miR-613	CLIP-seq
MIRT1421617	hsa-miR-630	CLIP-seq
MIRT1421618	hsa-miR-641	CLIP-seq
MIRT1421619	hsa-miR-802	CLIP-seq
MIRT1421622	hsa-miR-943	CLIP-seq
MIRT1421559	hsa-miR-1	CLIP-seq
MIRT1421561	hsa-miR-1292	CLIP-seq
MIRT1421563	hsa-miR-144	CLIP-seq
MIRT1421566	hsa-miR-194	CLIP-seq
MIRT1421570	hsa-miR-206	CLIP-seq
MIRT1421571	hsa-miR-23a	CLIP-seq
MIRT1421572	hsa-miR-23b	CLIP-seq
MIRT1421573	hsa-miR-23c	CLIP-seq
MIRT1421574	hsa-miR-25	CLIP-seq
MIRT2348463	hsa-miR-28-3p	CLIP-seq
MIRT755939	hsa-miR-299-3p	CLIP-seq
MIRT1421575	hsa-miR-3145-3p	CLIP-seq
MIRT1421577	hsa-miR-32	CLIP-seq
MIRT1421578	hsa-miR-342-3p	CLIP-seq
MIRT1421579	hsa-miR-3617	CLIP-seq
MIRT1421580	hsa-miR-363	CLIP-seq
MIRT1421582	hsa-miR-367	CLIP-seq
MIRT1421583	hsa-miR-3673	CLIP-seq
MIRT1421584	hsa-miR-3692	CLIP-seq
MIRT2348464	hsa-miR-3910	CLIP-seq
MIRT1421585	hsa-miR-3945	CLIP-seq
MIRT1421586	hsa-miR-412	CLIP-seq
MIRT1421588	hsa-miR-4253	CLIP-seq
MIRT1421589	hsa-miR-4264	CLIP-seq
MIRT1421590	hsa-miR-4265	CLIP-seq
MIRT1421591	hsa-miR-4296	CLIP-seq
MIRT1421592	hsa-miR-4297	CLIP-seq
MIRT1421594	hsa-miR-432	CLIP-seq
MIRT1421595	hsa-miR-4322	CLIP-seq
MIRT1421597	hsa-miR-4417	CLIP-seq
MIRT1421598	hsa-miR-4471	CLIP-seq
MIRT1421600	hsa-miR-4491	CLIP-seq
MIRT1421602	hsa-miR-4645-3p	CLIP-seq
MIRT1421603	hsa-miR-4657	CLIP-seq
MIRT1421605	hsa-miR-4707-5p	CLIP-seq
MIRT1421606	hsa-miR-4709-3p	CLIP-seq
MIRT1421607	hsa-miR-4742-3p	CLIP-seq
MIRT1421611	hsa-miR-4766-5p	CLIP-seq
MIRT1421612	hsa-miR-4793-5p	CLIP-seq
MIRT1421613	hsa-miR-4797-3p	CLIP-seq
MIRT2348465	hsa-miR-548an	CLIP-seq
MIRT1421615	hsa-miR-613	CLIP-seq
MIRT1421616	hsa-miR-622	CLIP-seq
MIRT1421617	hsa-miR-630	CLIP-seq
MIRT1421618	hsa-miR-641	CLIP-seq
MIRT1421619	hsa-miR-802	CLIP-seq
MIRT1421620	hsa-miR-92a	CLIP-seq
MIRT1421621	hsa-miR-92b	CLIP-seq
MIRT1421622	hsa-miR-943	CLIP-seq
MIRT1421566	hsa-miR-194	CLIP-seq
MIRT1421610	hsa-miR-4766-3p	CLIP-seq
MIRT1421613	hsa-miR-4797-3p	CLIP-seq
MIRT1421619	hsa-miR-802	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HDAC4	Activation	17610967

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10764806
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	10764806
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	TAS
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	10764806
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	10764806
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IMP	10764806
GO:0003700	Function	DNA-binding transcription factor activity	TAS	8537382
GO:0005515	Function	Protein binding	IPI	16189514, 18511908, 21516116, 25416956, 25873176, 32814053
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0042493	Process	Response to drug	IEA
GO:0070410	Function	Co-SMAD binding	IEA
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 602630
• HGNC: 11776
• e!Ensembl: ENSG00000177426

Protein

• UniProt ID: Q15583
• Protein name: Homeobox protein TGIF1 (5'-TG-3'-interacting factor 1)
• Protein function: Binds to a retinoid X receptor (RXR) responsive element from the cellular retinol-binding protein II promoter (CRBPII-RXRE). Inhibits the 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element. A
• PDB: 2LK2, 6FQP, 6FQQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05920	Homeobox_KN	182 → 221	Homeobox KN domain	Family

• Sequence:

  MVLAQSRVSAGVGSPHCSGSGGGGSDSFPWPASHPGNPQCSFSTAFLASPRLSRGTLAYL
  PPAPWSSLATPSALLGSSCAPPPPPARCPQPRALSPELGTKAGPRRPHRWELPRSPSQGA
  QGPAPRRRLLETMKGIVAASGSETEDEDSMDIPLDLSSSAGSGKRRRRGNLPKESVQILR
  DWLYEHRYNAYPSEQEKALLSQQTHLSTLQVCNWFINARRRLLPDMLRKDGKDPNQFTIS
  RRGAKISETSSVESVMGIKNFMPALEETPFHSCTAGPNPTLGRPLSPKPSSPGSVLARPS
  VICHTTVTALKDVPFSLCQSVGVGQNTDIQQIAAKNFTDTSLMYPEDTCKSGPSTNTQSG
  LFNTPPPTPPDLNQDFSGFQLLVDVALKRAAEMELQAKLTA

• Sequence length: 401

Pathways

KEGG:

TGF-beta signaling pathway

Reactome:

Downregulation of SMAD2/3:SMAD4 transcriptional activity
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283
Hemangioma	Hemangioma	rs119475040, rs121917766
Holoprosencephaly	Holoprosencephaly, HOLOPROSENCEPHALY 4 (disorder), HOLOPROSENCEPHALY 5	rs121917878, rs121917879, rs121917880, rs1572624159, rs137853021, rs397515364, rs397515365, rs2147483647, rs121909067, rs121909070, rs199476093, rs28936675, rs104894044, rs104894045, rs104894040, rs104894042, rs397515375, rs104894046, rs104894048, rs397515376, rs104894050, rs104894051, rs104894053, rs267607047, rs121917707, rs121917708, rs1594290658, rs387906867, rs387906995, rs387906996, rs387906997, rs398122882, rs397515499, rs397515500, rs397515502, rs587778786, rs587778788, rs587778789, rs587778792, rs146990376, rs587778799, rs587778803, rs587778805, rs587778806, rs794729641, rs864622212, rs876661335, rs876661331, rs876661330, rs876661329, rs886042458, rs1057518696, rs1057518689, rs1057518657, rs1057518660, rs763132615, rs1060499564, rs1060499563, rs1060499562, rs1554691658, rs1555332362, rs753473749, rs1554493810, rs1555332361, rs756225250, rs1554495331, rs528376963, rs1555650923, rs1554834892, rs139565972, rs1554834889, rs1490604080, rs1553337688, rs1554493607, rs1420292012, rs779093031, rs1555332212, rs1456001894, rs1558420022, rs1566405714, rs1567417422, rs1569507848, rs1584800601, rs1594291863, rs1584805934, rs1584806077, rs1594292057, rs1584800607, rs2053256914, rs1317614761, rs2057753419	16705179, 15221788, 11810641, 16962354, 23476075, 10835638
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Lobar holoprosencephaly	Lobar Holoprosencephaly	rs121909645	16705179
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Microform holoprosencephaly	Microform holoprosencephaly	rs876661323, rs876661324, rs876661325, rs876661326, rs876661327, rs876661333
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Semilobar holoprosencephaly	Semilobar Holoprosencephaly	rs876661334, rs876661329, rs876661328	16705179
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288

Unknown
Disease name	Disease term	dbSNP ID	References
Alobar holoprosencephaly	Alobar Holoprosencephaly		16705179
Ambiguous genitalia	Ambiguous Genitalia	rs782562963
Arrhinencephaly	Arhinencephaly		16705179
Choanal atresia	Choanal Atresia
Congenital coloboma of iris	Congenital coloboma of iris
Congenital hypoplasia of penis	Congenital hypoplasia of penis
Cyclocephaly	Cyclocephaly
Duodenal atresia	Duodenal atresia
Dwarfism	Dwarfism
Fused incisors	SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
Midline interhemispheric variant of holoprosencephaly	Midline interhemispheric variant of holoprosencephaly
Panhypopituitarism	Panhypopituitarism
Ptosis	Blepharoptosis, Ptosis	rs139920573
Renal agenesis	Congenital absence of kidneys syndrome
Septopreoptic holoprosencephaly	Septopreoptic holoprosencephaly
Strabismus	Strabismus