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	55697
Gene name	VAC14 component of PIKFYVE complex
Gene symbol	VAC14
Synonyms (NCBI Gene)	ArPIKfyveTAX1BP2TRX
Chromosome	16
Chromosome location	16q22.1-q22.2
Summary	This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important component of cellular membranes, from phosphatidylinositol

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SNP ID	Visualize variation	Clinical significance	Consequence
rs749094914	C>A,T	Uncertain-significance, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs879255555	C>T	Pathogenic	Splice donor variant
rs879255645	G>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1555527284	T>C	Likely-pathogenic	Intron variant

413

Show/Hide all (413)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016639	hsa-miR-429	Reporter assay	20005803
MIRT020349	hsa-miR-200a-3p	Reporter assay	20005803
MIRT021072	hsa-miR-200c-3p	Reporter assay	20005803
MIRT021651	hsa-miR-141-3p	Reporter assay	20005803
MIRT024128	hsa-miR-200b-3p	Reporter assay	20005803
MIRT038701	hsa-miR-30c-2-3p	CLASH	23622248
MIRT038068	hsa-miR-423-5p	CLASH	23622248
MIRT037789	hsa-miR-589-5p	CLASH	23622248
MIRT542385	hsa-miR-6882-5p	HITS-CLIP	21572407
MIRT542383	hsa-miR-8485	HITS-CLIP	21572407
MIRT542384	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT542382	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT542381	hsa-miR-603	HITS-CLIP	21572407
MIRT542380	hsa-miR-300	HITS-CLIP	21572407
MIRT542378	hsa-miR-381-3p	HITS-CLIP	21572407
MIRT675653	hsa-miR-5689	HITS-CLIP	21572407
MIRT542377	hsa-miR-3941	HITS-CLIP	21572407
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542385	hsa-miR-6882-5p	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT542380	hsa-miR-300	HITS-CLIP	23824327
MIRT542378	hsa-miR-381-3p	HITS-CLIP	23824327
MIRT675653	hsa-miR-5689	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542385	hsa-miR-6882-5p	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT542380	hsa-miR-300	HITS-CLIP	23824327
MIRT542378	hsa-miR-381-3p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542385	hsa-miR-6882-5p	PAR-CLIP	21572407
MIRT542383	hsa-miR-8485	PAR-CLIP	21572407
MIRT542384	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT542382	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT542381	hsa-miR-603	PAR-CLIP	21572407
MIRT542379	hsa-miR-6768-5p	PAR-CLIP	21572407
MIRT542380	hsa-miR-300	PAR-CLIP	21572407
MIRT542378	hsa-miR-381-3p	PAR-CLIP	21572407
MIRT542377	hsa-miR-3941	PAR-CLIP	21572407
MIRT439317	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT439317	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT611997	hsa-miR-124-5p	HITS-CLIP	27418678
MIRT542384	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT542384	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT542382	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT542382	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT542377	hsa-miR-3941	HITS-CLIP	27418678
MIRT542377	hsa-miR-3941	HITS-CLIP	27418678
MIRT542381	hsa-miR-603	HITS-CLIP	27418678
MIRT542381	hsa-miR-603	HITS-CLIP	27418678
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	27418678
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	27418678
MIRT542383	hsa-miR-8485	HITS-CLIP	27418678
MIRT542383	hsa-miR-8485	HITS-CLIP	27418678
MIRT542385	hsa-miR-6882-5p	HITS-CLIP	21572407
MIRT542383	hsa-miR-8485	HITS-CLIP	21572407
MIRT542384	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT542382	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT542381	hsa-miR-603	HITS-CLIP	21572407
MIRT542380	hsa-miR-300	HITS-CLIP	21572407
MIRT542378	hsa-miR-381-3p	HITS-CLIP	21572407
MIRT675653	hsa-miR-5689	HITS-CLIP	21572407
MIRT542377	hsa-miR-3941	HITS-CLIP	21572407
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542385	hsa-miR-6882-5p	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT542380	hsa-miR-300	HITS-CLIP	23824327
MIRT542378	hsa-miR-381-3p	HITS-CLIP	23824327
MIRT675653	hsa-miR-5689	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542385	hsa-miR-6882-5p	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT542380	hsa-miR-300	HITS-CLIP	23824327
MIRT542378	hsa-miR-381-3p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542383	hsa-miR-8485	HITS-CLIP	23824327
MIRT542384	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT542382	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT542381	hsa-miR-603	HITS-CLIP	23824327
MIRT542379	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT611997	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT542377	hsa-miR-3941	HITS-CLIP	23824327
MIRT542385	hsa-miR-6882-5p	PAR-CLIP	21572407
MIRT542383	hsa-miR-8485	PAR-CLIP	21572407
MIRT542384	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT542382	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT542381	hsa-miR-603	PAR-CLIP	21572407
MIRT542379	hsa-miR-6768-5p	PAR-CLIP	21572407
MIRT542380	hsa-miR-300	PAR-CLIP	21572407
MIRT542378	hsa-miR-381-3p	PAR-CLIP	21572407
MIRT542377	hsa-miR-3941	PAR-CLIP	21572407
MIRT1481581	hsa-miR-138	CLIP-seq
MIRT1481582	hsa-miR-2113	CLIP-seq
MIRT1481583	hsa-miR-218	CLIP-seq
MIRT1481584	hsa-miR-3170	CLIP-seq
MIRT1481585	hsa-miR-342-5p	CLIP-seq
MIRT1481586	hsa-miR-3942-3p	CLIP-seq
MIRT1481587	hsa-miR-4447	CLIP-seq
MIRT1481588	hsa-miR-4472	CLIP-seq
MIRT1481589	hsa-miR-4651	CLIP-seq
MIRT1481590	hsa-miR-4664-5p	CLIP-seq
MIRT1481591	hsa-miR-4711-5p	CLIP-seq
MIRT1481592	hsa-miR-548q	CLIP-seq
MIRT1481593	hsa-miR-608	CLIP-seq
MIRT1481584	hsa-miR-3170	CLIP-seq
MIRT1481585	hsa-miR-342-5p	CLIP-seq
MIRT2144884	hsa-miR-3651	CLIP-seq
MIRT2144885	hsa-miR-3975	CLIP-seq
MIRT1481587	hsa-miR-4447	CLIP-seq
MIRT1481588	hsa-miR-4472	CLIP-seq
MIRT1481589	hsa-miR-4651	CLIP-seq
MIRT1481590	hsa-miR-4664-5p	CLIP-seq
MIRT1481593	hsa-miR-608	CLIP-seq
MIRT2365217	hsa-miR-1301	CLIP-seq
MIRT2365218	hsa-miR-2277-3p	CLIP-seq
MIRT2365219	hsa-miR-3135b	CLIP-seq
MIRT2365220	hsa-miR-3166	CLIP-seq
MIRT1481584	hsa-miR-3170	CLIP-seq
MIRT2365221	hsa-miR-329	CLIP-seq
MIRT1481585	hsa-miR-342-5p	CLIP-seq
MIRT2365222	hsa-miR-3612	CLIP-seq
MIRT2365223	hsa-miR-3660	CLIP-seq
MIRT2365224	hsa-miR-3944-5p	CLIP-seq
MIRT2365225	hsa-miR-4443	CLIP-seq
MIRT1481587	hsa-miR-4447	CLIP-seq
MIRT2365226	hsa-miR-4453	CLIP-seq
MIRT1481588	hsa-miR-4472	CLIP-seq
MIRT2365227	hsa-miR-4526	CLIP-seq
MIRT2365228	hsa-miR-4538	CLIP-seq
MIRT1481589	hsa-miR-4651	CLIP-seq
MIRT2365229	hsa-miR-4660	CLIP-seq
MIRT1481590	hsa-miR-4664-5p	CLIP-seq
MIRT1481591	hsa-miR-4711-5p	CLIP-seq
MIRT2365230	hsa-miR-5047	CLIP-seq
MIRT1481593	hsa-miR-608	CLIP-seq
MIRT2365231	hsa-miR-635	CLIP-seq
MIRT2365232	hsa-miR-650	CLIP-seq
MIRT1481584	hsa-miR-3170	CLIP-seq
MIRT1481585	hsa-miR-342-5p	CLIP-seq
MIRT1481587	hsa-miR-4447	CLIP-seq
MIRT1481588	hsa-miR-4472	CLIP-seq
MIRT1481589	hsa-miR-4651	CLIP-seq
MIRT1481590	hsa-miR-4664-5p	CLIP-seq
MIRT1481591	hsa-miR-4711-5p	CLIP-seq
MIRT1481593	hsa-miR-608	CLIP-seq
MIRT2658998	hsa-miR-1268	CLIP-seq
MIRT2658999	hsa-miR-1268b	CLIP-seq
MIRT2365218	hsa-miR-2277-3p	CLIP-seq
MIRT2365219	hsa-miR-3135b	CLIP-seq
MIRT2659000	hsa-miR-3144-5p	CLIP-seq
MIRT2659001	hsa-miR-3191	CLIP-seq
MIRT2659002	hsa-miR-3199	CLIP-seq
MIRT2659003	hsa-miR-3591-5p	CLIP-seq
MIRT2365222	hsa-miR-3612	CLIP-seq
MIRT2659004	hsa-miR-3654	CLIP-seq
MIRT2659005	hsa-miR-3670	CLIP-seq
MIRT2659006	hsa-miR-378	CLIP-seq
MIRT2659007	hsa-miR-378b	CLIP-seq
MIRT2659008	hsa-miR-378c	CLIP-seq
MIRT2659009	hsa-miR-378d	CLIP-seq
MIRT2659010	hsa-miR-378e	CLIP-seq
MIRT2659011	hsa-miR-378f	CLIP-seq
MIRT2659012	hsa-miR-378h	CLIP-seq
MIRT2659013	hsa-miR-378i	CLIP-seq
MIRT2659014	hsa-miR-422a	CLIP-seq
MIRT2659015	hsa-miR-4255	CLIP-seq
MIRT2659016	hsa-miR-4268	CLIP-seq
MIRT2365225	hsa-miR-4443	CLIP-seq
MIRT2659017	hsa-miR-4514	CLIP-seq
MIRT2659018	hsa-miR-4515	CLIP-seq
MIRT2659019	hsa-miR-4522	CLIP-seq
MIRT2659020	hsa-miR-4652-5p	CLIP-seq
MIRT2659021	hsa-miR-4667-5p	CLIP-seq
MIRT2659022	hsa-miR-4692	CLIP-seq
MIRT2659023	hsa-miR-4700-5p	CLIP-seq
MIRT2659024	hsa-miR-4728-5p	CLIP-seq
MIRT2659025	hsa-miR-4736	CLIP-seq
MIRT2365232	hsa-miR-650	CLIP-seq
MIRT2659026	hsa-miR-661	CLIP-seq
MIRT2659027	hsa-miR-940	CLIP-seq
MIRT2658998	hsa-miR-1268	CLIP-seq
MIRT2658999	hsa-miR-1268b	CLIP-seq
MIRT2365218	hsa-miR-2277-3p	CLIP-seq
MIRT2365219	hsa-miR-3135b	CLIP-seq
MIRT2659000	hsa-miR-3144-5p	CLIP-seq
MIRT2659001	hsa-miR-3191	CLIP-seq
MIRT2659002	hsa-miR-3199	CLIP-seq
MIRT2365222	hsa-miR-3612	CLIP-seq
MIRT2659004	hsa-miR-3654	CLIP-seq
MIRT2659005	hsa-miR-3670	CLIP-seq
MIRT2659016	hsa-miR-4268	CLIP-seq
MIRT2365225	hsa-miR-4443	CLIP-seq
MIRT2659017	hsa-miR-4514	CLIP-seq
MIRT2659018	hsa-miR-4515	CLIP-seq
MIRT2659020	hsa-miR-4652-5p	CLIP-seq
MIRT2659021	hsa-miR-4667-5p	CLIP-seq
MIRT2659022	hsa-miR-4692	CLIP-seq
MIRT2659023	hsa-miR-4700-5p	CLIP-seq
MIRT2659024	hsa-miR-4728-5p	CLIP-seq
MIRT2659025	hsa-miR-4736	CLIP-seq
MIRT2365232	hsa-miR-650	CLIP-seq
MIRT2659026	hsa-miR-661	CLIP-seq
MIRT2659027	hsa-miR-940	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0005515	Function	Protein binding	IPI	17161399, 19037259, 25416956, 26871637, 28514442, 29187380, 29892012, 31515488, 32296183, 32814053, 33961781
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	IBA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	IEA
GO:0007165	Process	Signal transduction	NAS	8611628
GO:0010008	Component	Endosome membrane	IBA
GO:0010008	Component	Endosome membrane	IDA	17556371
GO:0010008	Component	Endosome membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0031901	Component	Early endosome membrane	TAS
GO:0031902	Component	Late endosome membrane	TAS
GO:0038023	Function	Signaling receptor activity	NAS	8611628
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0070772	Component	PAS complex	IBA
GO:0070772	Component	PAS complex	IEA
GO:0098830	Component	Presynaptic endosome	IEA
GO:0099149	Process	Regulation of postsynaptic neurotransmitter receptor internalization	IEA

MIM	HGNC	e!Ensembl
604632	25507	ENSG00000103043

Q08AM6

Protein name

Protein VAC14 homolog (Tax1-binding protein 2)

Protein function

Scaffold protein component of the PI(3,5)P2 regulatory complex which regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Pentamerizes into a star-shaped structure and nucleates the assembly of the

PDB

7K1Y

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12755	Vac14_Fab1_bd	67 → 163		Family
PF11916	Vac14_Fig4_bd	542 → 720	Vacuolar protein 14 C-terminal Fig4p binding	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:8611628}.

Sequence

MNPEKDFAPLTPNIVRALNDKLYEKRKVAALEIEKLVREFVAQNNTVQIKHVIQTLSQEF
ALSQHPHSRKGGLIGLAACSIALGKDSGLYLKELIEPVLTCFNDADSRLRYYACEALYNI
VKVARGAVLPHFNVLFDGLSKLAADPDPNVKSGSELLDRLLKDIVTESNKFDLVSFIPLL
RERIYSNNQYARQFIISWILVLESVPDINLLDYLPEILDGLFQILGDNGKEIRKMCEVVL
GEFLKEIKKNPSSVKFAEMANILVIHCQTTDDLIQLTAMCWMREFIQLAGRVMLPYSSGI
LTAVLPCLAYDDRKKSIKEVANVCNQSLMKLVTPEDDELDELRPGQRQAEPTPDDALPKQ
EGTASGGPDGSCDSSFSSGISVFTAASTERAPVTLHLDGIVQVLNCHLSDTAIGMMTRIA
VLKWLYHLYIKTPRKMFRHTDSLFPILLQTLSDESDEVILKDLEVLAEIASSPAGQTDDP
GPLDGPDLQASHSELQVPTPGRAGLLNTSGTKGLECSPSTPTMNSYFYKFMINLLKRFSS
ERKLLEVRGPFIIRQLCLLLNAENIFHSMADILLREEDLKFASTMVHALNTILLTSTELF
QLRNQLKDLKTLESQNLFCCLYRSWCHNPVTTVSLCFLTQNYRHAYDLIQKFGDLEVTVD
FLAEVDKLVQLIECPIFTYLRLQLLDVKNNPYLIKALYGLLMLLPQSSAFQLLSHRLQCV
PNPELLQTEDSLKAAPKSQKADSPSIDYAELLQHFEKVQNKHLEVRHQRSGRGDHLDRRV
VL

Sequence length

782

Interactions

View interactions

	KEGG		Reactome
	Human T-cell leukemia virus 1 infection Viral carcinogenesis		Synthesis of PIPs at the Golgi membrane Synthesis of PIPs at the early endosome membrane Synthesis of PIPs at the late endosome membrane

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Striatonigral degeneration, childhood-onset	Likely pathogenic; Pathogenic	rs1015359196, rs762388639, rs879255555, rs749094914, rs879255645, rs2507738804, rs769608639	RCV002471609 RCV000239574 RCV000239487 RCV000239537 RCV000239591 RCV003447872 RCV004800412 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Yunis-Varon syndrome	Likely pathogenic; Pathogenic	rs1060499667, rs769608639	RCV000449551 RCV000449608	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (29)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD-ONSET BASAL GANGLIA DEGENERATION SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFUSE SCLERODERMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegeneration	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ 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
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VAC14-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
YUNIS VARON SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (73)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arhinencephaly	Arrhinencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	8639174		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24070605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21143527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J	Charcot-Marie-Tooth Disease	BEFREE	20630877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Onset Dystonias	Dystonia	BEFREE	31591492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood-onset basal ganglia degeneration syndrome	Basal Ganglia Degeneration Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital microcephaly	Congenital Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniofacial dystonia	Craniofacial dystonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Defect of skull ossification	Defect Of Skull Ossification	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	23328539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30962862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Scleroderma	Scleroderma	GWASCAT_DG	29293537		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	27292112, 40221969	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	28283962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gingival Recession	Gingival Recession	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glossoptosis	Glossoptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Gray Platelet Syndrome	BEFREE	29187380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension, Renovascular	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	30709920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28093200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	23328539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	16610948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22610972, 8968078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24070605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of other and unspecified sites	Malignant neoplasm	GWASCAT_DG	27143689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27143689, 28013349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	GWASCAT_DG	27143689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22610972, 26824423		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	27292112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	27143689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	GWASCAT_DG	27143689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Artery Stenosis	Renal Artery Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	31387860	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Striatonigral Degeneration	Striatonigral Degeneration	BEFREE	31591492		★★★★★ ★☆☆☆☆ Found in Text Mining only
STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET	Striatonigral Degeneration	GENOMICS_ENGLAND_DG	19037259, 27292112		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET	Striatonigral Degeneration	ORPHANET_DG	27292112		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET	Striatonigral Degeneration	UNIPROT_DG	27292112		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET	Striatonigral Degeneration	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET	Striatonigral Degeneration	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Syndactyly	Syndactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thumb aplasia	Thumb Aplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24070605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Yunis Varon syndrome	Yunis Varon Syndrome	BEFREE	28635952, 31591492		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Yunis Varon syndrome	Yunis Varon Syndrome	ORPHANET_DG	28635952		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Yunis Varon syndrome	Yunis-varon syndrome	Pubtator	28635952	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Yunis-Varon syndrome	Yunis Varon Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

VAC14 (VAC14 component of PIKFYVE complex)