TRIP4 (thyroid hormone receptor interactor 4)

Gene

• Entrez ID: 9325
• Gene name: Thyroid hormone receptor interactor 4
• Gene symbol: TRIP4
• Synonyms (NCBI Gene): ASC-1, ASC1, HsT17391, MDCDC, SMABF1, ZC2HC5
• Chromosome: 15
• Chromosome location: 15q22.31
• Summary: This gene encodes a subunit of the tetrameric nuclear activating signal cointegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, nuclear receptors and basal transcription factors to facilitate nuclear receptors-mediated transcri

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs147303485	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs200549601	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs760447338	CATA>-,CATACATA	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs761865592	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs869312827	C>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant, non coding transcript variant
rs1596341256	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT719627	hsa-miR-4728-3p	HITS-CLIP	19536157
MIRT719626	hsa-miR-1537-5p	HITS-CLIP	19536157
MIRT719625	hsa-miR-4718	HITS-CLIP	19536157
MIRT719624	hsa-miR-4999-5p	HITS-CLIP	19536157
MIRT461191	hsa-miR-6768-3p	HITS-CLIP	23313552
MIRT461190	hsa-miR-3942-5p	HITS-CLIP	23313552
MIRT461189	hsa-miR-4703-5p	HITS-CLIP	23313552
MIRT461188	hsa-miR-95-5p	HITS-CLIP	23313552
MIRT461187	hsa-miR-4662a-5p	HITS-CLIP	23313552
MIRT461186	hsa-miR-7641	HITS-CLIP	23313552
MIRT461191	hsa-miR-6768-3p	HITS-CLIP	23313552
MIRT461190	hsa-miR-3942-5p	HITS-CLIP	23313552
MIRT461189	hsa-miR-4703-5p	HITS-CLIP	23313552
MIRT461188	hsa-miR-95-5p	HITS-CLIP	23313552
MIRT461187	hsa-miR-4662a-5p	HITS-CLIP	23313552
MIRT461186	hsa-miR-7641	HITS-CLIP	23313552
MIRT461191	hsa-miR-6768-3p	HITS-CLIP	23706177
MIRT461190	hsa-miR-3942-5p	HITS-CLIP	23706177
MIRT461189	hsa-miR-4703-5p	HITS-CLIP	23706177
MIRT461188	hsa-miR-95-5p	HITS-CLIP	23706177
MIRT461187	hsa-miR-4662a-5p	HITS-CLIP	23706177
MIRT461186	hsa-miR-7641	HITS-CLIP	23706177
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	20371350
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT461188	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	20371350
MIRT461186	hsa-miR-7641	PAR-CLIP	20371350
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	20371350
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT461188	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	20371350
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT461188	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	20371350
MIRT461186	hsa-miR-7641	PAR-CLIP	20371350
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	20371350
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT461188	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	20371350
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	20371350
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT461188	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	20371350
MIRT461186	hsa-miR-7641	PAR-CLIP	20371350
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	20371350
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT461188	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	20371350
MIRT461186	hsa-miR-7641	PAR-CLIP	20371350
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	21572407
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	21572407
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	21572407
MIRT461188	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	21572407
MIRT461186	hsa-miR-7641	PAR-CLIP	21572407
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	21572407
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	21572407
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	21572407
MIRT461188	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	21572407
MIRT461186	hsa-miR-7641	PAR-CLIP	21572407
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	21572407
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	21572407
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	21572407
MIRT461188	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	21572407
MIRT461186	hsa-miR-7641	PAR-CLIP	21572407
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	21572407
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	21572407
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	21572407
MIRT461188	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	21572407
MIRT461186	hsa-miR-7641	PAR-CLIP	21572407
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	22012620
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	22012620
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	22012620
MIRT461188	hsa-miR-95-5p	PAR-CLIP	22012620
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	22012620
MIRT461186	hsa-miR-7641	PAR-CLIP	22012620
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	23446348
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	23446348
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	23446348
MIRT461188	hsa-miR-95-5p	PAR-CLIP	23446348
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	23446348
MIRT461186	hsa-miR-7641	PAR-CLIP	23446348
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	23446348
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	23446348
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	23446348
MIRT461188	hsa-miR-95-5p	PAR-CLIP	23446348
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	23446348
MIRT461186	hsa-miR-7641	PAR-CLIP	23446348
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	23446348
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	23446348
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	23446348
MIRT461188	hsa-miR-95-5p	PAR-CLIP	23446348
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	23446348
MIRT461186	hsa-miR-7641	PAR-CLIP	23446348
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	23446348
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	23446348
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	23446348
MIRT461188	hsa-miR-95-5p	PAR-CLIP	23446348
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	23446348
MIRT461186	hsa-miR-7641	PAR-CLIP	23446348
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	24398324
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	24398324
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	24398324
MIRT461188	hsa-miR-95-5p	PAR-CLIP	24398324
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	24398324
MIRT461186	hsa-miR-7641	PAR-CLIP	24398324
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	23592263
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	23592263
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	23592263
MIRT461188	hsa-miR-95-5p	PAR-CLIP	23592263
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	23592263
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	23592263
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	23592263
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	23592263
MIRT461188	hsa-miR-95-5p	PAR-CLIP	23592263
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	23592263
MIRT461186	hsa-miR-7641	PAR-CLIP	23592263
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	26701625
MIRT461186	hsa-miR-7641	PAR-CLIP	26701625
MIRT461186	hsa-miR-7641	PAR-CLIP	26701625
MIRT461186	hsa-miR-7641	PAR-CLIP	26701625
MIRT461186	hsa-miR-7641	PAR-CLIP	26701625
MIRT461186	hsa-miR-7641	PAR-CLIP	26701625
MIRT461186	hsa-miR-7641	PAR-CLIP	26701625
MIRT461186	hsa-miR-7641	PAR-CLIP	26701625
MIRT461186	hsa-miR-7641	PAR-CLIP	26701625
MIRT461186	hsa-miR-7641	PAR-CLIP	26701625
MIRT461186	hsa-miR-7641	PAR-CLIP	26701625
MIRT461186	hsa-miR-7641	PAR-CLIP	26701625
MIRT461186	hsa-miR-7641	PAR-CLIP	26701625
MIRT461186	hsa-miR-7641	PAR-CLIP	26701625
MIRT461186	hsa-miR-7641	PAR-CLIP	26701625
MIRT461186	hsa-miR-7641	PAR-CLIP	26701625
MIRT461186	hsa-miR-7641	PAR-CLIP	26701625
MIRT461186	hsa-miR-7641	PAR-CLIP	26701625
MIRT461186	hsa-miR-7641	PAR-CLIP	26701625
MIRT461186	hsa-miR-7641	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461188	hsa-miR-95-5p	PAR-CLIP	26701625
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	27292025
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	27292025
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	27292025
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	27292025
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	27292025
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	27292025
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	27292025
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	27292025
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	27292025
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	27292025
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	27292025
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	27292025
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	27292025
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	27292025
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	27292025
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	27292025
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	27292025
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	27292025
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	27292025
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	27292025
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	27292025
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	27292025
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	27292025
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	27292025
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	27292025
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	27292025
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	27292025
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	27292025
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	27292025
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	27292025
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	27292025
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	27292025
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	27292025
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	27292025
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	27292025
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	27292025
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	27292025
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	27292025
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	27292025
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	27292025
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	27292025
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	27292025
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	27292025
MIRT461186	hsa-miR-7641	PAR-CLIP	27292025
MIRT461186	hsa-miR-7641	PAR-CLIP	27292025
MIRT461186	hsa-miR-7641	PAR-CLIP	27292025
MIRT461186	hsa-miR-7641	PAR-CLIP	27292025
MIRT461186	hsa-miR-7641	PAR-CLIP	27292025
MIRT461186	hsa-miR-7641	PAR-CLIP	27292025
MIRT461186	hsa-miR-7641	PAR-CLIP	27292025
MIRT461186	hsa-miR-7641	PAR-CLIP	27292025
MIRT461186	hsa-miR-7641	PAR-CLIP	27292025
MIRT461186	hsa-miR-7641	PAR-CLIP	27292025
MIRT461188	hsa-miR-95-5p	PAR-CLIP	27292025
MIRT461188	hsa-miR-95-5p	PAR-CLIP	27292025
MIRT461188	hsa-miR-95-5p	PAR-CLIP	27292025
MIRT461188	hsa-miR-95-5p	PAR-CLIP	27292025
MIRT461188	hsa-miR-95-5p	PAR-CLIP	27292025
MIRT461188	hsa-miR-95-5p	PAR-CLIP	27292025
MIRT461188	hsa-miR-95-5p	PAR-CLIP	27292025
MIRT461188	hsa-miR-95-5p	PAR-CLIP	27292025
MIRT461188	hsa-miR-95-5p	PAR-CLIP	27292025
MIRT461188	hsa-miR-95-5p	PAR-CLIP	27292025
MIRT461188	hsa-miR-95-5p	PAR-CLIP	27292025
MIRT719627	hsa-miR-4728-3p	HITS-CLIP	19536157
MIRT719626	hsa-miR-1537-5p	HITS-CLIP	19536157
MIRT719625	hsa-miR-4718	HITS-CLIP	19536157
MIRT719624	hsa-miR-4999-5p	HITS-CLIP	19536157
MIRT461191	hsa-miR-6768-3p	HITS-CLIP	23313552
MIRT461190	hsa-miR-3942-5p	HITS-CLIP	23313552
MIRT461189	hsa-miR-4703-5p	HITS-CLIP	23313552
MIRT461188	hsa-miR-95-5p	HITS-CLIP	23313552
MIRT461187	hsa-miR-4662a-5p	HITS-CLIP	23313552
MIRT461186	hsa-miR-7641	HITS-CLIP	23313552
MIRT461191	hsa-miR-6768-3p	HITS-CLIP	23313552
MIRT461190	hsa-miR-3942-5p	HITS-CLIP	23313552
MIRT461189	hsa-miR-4703-5p	HITS-CLIP	23313552
MIRT461188	hsa-miR-95-5p	HITS-CLIP	23313552
MIRT461187	hsa-miR-4662a-5p	HITS-CLIP	23313552
MIRT461186	hsa-miR-7641	HITS-CLIP	23313552
MIRT461191	hsa-miR-6768-3p	HITS-CLIP	23706177
MIRT461190	hsa-miR-3942-5p	HITS-CLIP	23706177
MIRT461189	hsa-miR-4703-5p	HITS-CLIP	23706177
MIRT461188	hsa-miR-95-5p	HITS-CLIP	23706177
MIRT461187	hsa-miR-4662a-5p	HITS-CLIP	23706177
MIRT461186	hsa-miR-7641	HITS-CLIP	23706177
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	20371350
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT461188	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	20371350
MIRT461186	hsa-miR-7641	PAR-CLIP	20371350
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	20371350
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT461188	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	20371350
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT461188	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	20371350
MIRT461186	hsa-miR-7641	PAR-CLIP	20371350
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	20371350
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT461188	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	20371350
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	20371350
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT461188	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	20371350
MIRT461186	hsa-miR-7641	PAR-CLIP	20371350
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	20371350
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT461188	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	20371350
MIRT461186	hsa-miR-7641	PAR-CLIP	20371350
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	21572407
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	21572407
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	21572407
MIRT461188	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	21572407
MIRT461186	hsa-miR-7641	PAR-CLIP	21572407
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	21572407
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	21572407
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	21572407
MIRT461188	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	21572407
MIRT461186	hsa-miR-7641	PAR-CLIP	21572407
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	21572407
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	21572407
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	21572407
MIRT461188	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	21572407
MIRT461186	hsa-miR-7641	PAR-CLIP	21572407
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	21572407
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	21572407
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	21572407
MIRT461188	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	21572407
MIRT461186	hsa-miR-7641	PAR-CLIP	21572407
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	22012620
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	22012620
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	22012620
MIRT461188	hsa-miR-95-5p	PAR-CLIP	22012620
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	22012620
MIRT461186	hsa-miR-7641	PAR-CLIP	22012620
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	23446348
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	23446348
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	23446348
MIRT461188	hsa-miR-95-5p	PAR-CLIP	23446348
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	23446348
MIRT461186	hsa-miR-7641	PAR-CLIP	23446348
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	23446348
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	23446348
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	23446348
MIRT461188	hsa-miR-95-5p	PAR-CLIP	23446348
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	23446348
MIRT461186	hsa-miR-7641	PAR-CLIP	23446348
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	23446348
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	23446348
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	23446348
MIRT461188	hsa-miR-95-5p	PAR-CLIP	23446348
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	23446348
MIRT461186	hsa-miR-7641	PAR-CLIP	23446348
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	23446348
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	23446348
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	23446348
MIRT461188	hsa-miR-95-5p	PAR-CLIP	23446348
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	23446348
MIRT461186	hsa-miR-7641	PAR-CLIP	23446348
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	24398324
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	24398324
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	24398324
MIRT461188	hsa-miR-95-5p	PAR-CLIP	24398324
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	24398324
MIRT461186	hsa-miR-7641	PAR-CLIP	24398324
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	23592263
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	23592263
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	23592263
MIRT461188	hsa-miR-95-5p	PAR-CLIP	23592263
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	23592263
MIRT461191	hsa-miR-6768-3p	PAR-CLIP	23592263
MIRT461190	hsa-miR-3942-5p	PAR-CLIP	23592263
MIRT461189	hsa-miR-4703-5p	PAR-CLIP	23592263
MIRT461188	hsa-miR-95-5p	PAR-CLIP	23592263
MIRT461187	hsa-miR-4662a-5p	PAR-CLIP	23592263
MIRT461186	hsa-miR-7641	PAR-CLIP	23592263
MIRT1456632	hsa-miR-3156-3p	CLIP-seq
MIRT1456633	hsa-miR-3653	CLIP-seq
MIRT1456634	hsa-miR-3658	CLIP-seq
MIRT1456635	hsa-miR-4301	CLIP-seq
MIRT1456636	hsa-miR-4464	CLIP-seq
MIRT1456637	hsa-miR-4748	CLIP-seq
MIRT1456638	hsa-miR-483-3p	CLIP-seq
MIRT1456639	hsa-miR-548a-5p	CLIP-seq
MIRT1456640	hsa-miR-548ab	CLIP-seq
MIRT1456641	hsa-miR-548ak	CLIP-seq
MIRT1456642	hsa-miR-548b-5p	CLIP-seq
MIRT1456643	hsa-miR-548c-5p	CLIP-seq
MIRT1456644	hsa-miR-548d-5p	CLIP-seq
MIRT1456645	hsa-miR-548h	CLIP-seq
MIRT1456646	hsa-miR-548i	CLIP-seq
MIRT1456647	hsa-miR-548j	CLIP-seq
MIRT1456648	hsa-miR-548k	CLIP-seq
MIRT1456649	hsa-miR-548l	CLIP-seq
MIRT1456650	hsa-miR-548w	CLIP-seq
MIRT1456651	hsa-miR-548y	CLIP-seq
MIRT1456652	hsa-miR-559	CLIP-seq
MIRT2651285	hsa-miR-3935	CLIP-seq
MIRT1456636	hsa-miR-4464	CLIP-seq
MIRT1456637	hsa-miR-4748	CLIP-seq
MIRT2651286	hsa-miR-936	CLIP-seq
MIRT1456636	hsa-miR-4464	CLIP-seq
MIRT1456637	hsa-miR-4748	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IPI	25219498
GO:0003713	Function	Transcription coactivator activity	IMP	25219498
GO:0005515	Function	Protein binding	IPI	25219498
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	10454579, 12077347, 25219498, 26924529
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	10454579
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	20873783
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	12077347
GO:0006355	Process	Regulation of DNA-templated transcription	IMP	26924529
GO:0008270	Function	Zinc ion binding	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016922	Function	Nuclear receptor binding	IDA	10454579
GO:0019901	Function	Protein kinase binding	IPI	20873783
GO:0030331	Function	Nuclear estrogen receptor binding	IPI	25219498
GO:0030520	Process	Estrogen receptor signaling pathway	IDA	25219498
GO:0031594	Component	Neuromuscular junction	IMP	26924529
GO:0032790	Process	Ribosome disassembly	IDA	32579943, 36302773
GO:0032790	Process	Ribosome disassembly	NAS	32099016
GO:0032991	Component	Protein-containing complex	IDA	20873783
GO:0035035	Function	Histone acetyltransferase binding	IPI	25219498
GO:0044389	Function	Ubiquitin-like protein ligase binding	IPI	25219498
GO:0045661	Process	Regulation of myoblast differentiation	IEA
GO:0045661	Process	Regulation of myoblast differentiation	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	25219498
GO:0046872	Function	Metal ion binding	IEA
GO:0072344	Process	Rescue of stalled ribosome	IDA	32579943, 36302773
GO:0072344	Process	Rescue of stalled ribosome	IEA
GO:0072344	Process	Rescue of stalled ribosome	IMP	32099016
GO:0180022	Component	RQC-trigger complex	IDA	12077347
GO:0180022	Component	RQC-trigger complex	IEA
GO:1990116	Process	Ribosome-associated ubiquitin-dependent protein catabolic process	IMP	32099016
GO:1990116	Process	Ribosome-associated ubiquitin-dependent protein catabolic process	NAS	32099016

Other IDs

• MIM: 604501
• HGNC: 12310
• e!Ensembl: ENSG00000103671

Protein

• UniProt ID: Q15650
• Protein name: Activating signal cointegrator 1 (ASC-1) (Thyroid receptor-interacting protein 4) (TR-interacting protein 4) (TRIP-4)
• Protein function: Transcription coactivator which associates with nuclear receptors, transcriptional coactivators including EP300, CREBBP and NCOA1, and basal transcription factors like TBP and TFIIA to facilitate nuclear receptors-mediated transcription (PubMed:
• PDB: 2E5O, 8ALZ, 8YEW, 8YEY, 8YFI, 8YFJ, 8YXW, 8YXX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06221	zf-C2HC5	168 → 216	Putative zinc finger motif, C2HC5-type	Domain
  PF04266	ASCH	437 → 551	ASCH domain	Domain

• Sequence:

  MAVAGAVSGEPLVHWCTQQLRKTFGLDVSEEIIQYVLSIESAEEIREYVTDLLQGNEGKK
  GQFIEELITKWQKNDQELISDPLQQCFKKDEILDGQKSGDHLKRGRKKGRNRQEVPAFTE
  PDTTAEVKTPFDLAKAQENSNSVKKKTKFVNLYTREGQDRLAVLLPGRHPCDCLGQKHKL
  INNCLICGRIVCEQEGSGPCLFCGTLVCTHEEQDILQRDSNKSQKLLKKLMSGVENSGKV
  DISTKDLLPHQELRIKSGLEKAIKHKDKLLEFDRTSIRRTQVIDDESDYFASDSNQWLSK
  LERETLQKREEELRELRHASRLSKKVTIDFAGRKILEEENSLAEYHSRLDETIQAIANGT
  LNQPLTKLDRSSEEPLGVLVNPNMYQSPPQWVDHTGAASQKKAFRSSGFGLEFNSFQHQL
  RIQDQEFQEGFDGGWCLSVHQPWASLLVRGIKRVEGRSWYTPHRGRLWIAATAKKPSPQE
  VSELQATYRLLRGKDVEFPNDYPSGCLLGCVDLIDCLSQKQFKEQFPDISQESDSPFVFI
  CKNPQEMVVKFPIKGNPKIWKLDSKIHQGAKKGLMKQNKAV

• Sequence length: 581

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Centronuclear myopathy	Pathogenic	rs2505390122, rs2505448975	RCV004587612 RCV004587613	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Likely pathogenic	rs374032892	RCV005931138	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	Pathogenic	rs748828135, rs200549601	RCV005002857 RCV000239524	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Likely pathogenic	rs374032892	RCV005931139	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinal muscular atrophy with congenital bone fractures 1	Likely pathogenic; Pathogenic	rs2140297426, rs1900263561, rs1891715888, rs2505403454, rs748828135, rs869312827, rs761865592, rs147303485	RCV001731134 RCV003389340 RCV004017913 RCV002463879 RCV005002857 RCV000210281 RCV000210261 RCV000989343	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TRIP4-related disorder	Likely pathogenic; Pathogenic	rs1446427502, rs374032892	RCV004552020 RCV003331756	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MUSCULAR DYSTROPHY, RESPIRATORY FAILURE, SKIN ABNORMALITIES, JOINT HYPERLAXITY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERICARDITIS	—	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
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	24495969	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	24162737		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASDB_DG	24162737		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	31794073	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25219498, 9597010		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	40180167	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	40765826	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	31794073		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	31794073	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	31794073	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	34075209	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30905820		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervix carcinoma	Cervix carcinoma	BEFREE	30905820		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	31794073		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystinuria	Cystinuria	BEFREE	15458438		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diaphragmatic Eventration	Diaphragmatic Eventration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31306660		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34648907	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25219498		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30905820		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28899685		★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)	Minicore myopathy with external ophthalmoplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	31794073, 34075209, 38143368	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE	Muscular Dystrophy, Congenital	ORPHANET_DG	27008887		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE	Muscular Dystrophy, Congenital	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	27008887, 31794073		★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	31794073	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32275642	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25219498, 30905820		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	28218388		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	38143368	Associate	★☆☆☆☆ Found in Text Mining only
Phrynoderma	Phrynoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	38143368	Associate	★☆☆☆☆ Found in Text Mining only
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Spinal Muscular Atrophy With Congenital Bone Fractures	Orphanet			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15292941		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18400471		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophies of Childhood	Spinal muscular atrophy	Pubtator	38143368	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	26924529, 30398641, 31794073		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1	Spinal Muscular Atrophy With Congenital Bone Fractures	GENOMICS_ENGLAND_DG	26924529, 27008887		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1	Spinal Muscular Atrophy With Congenital Bone Fractures	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1	Spinal Muscular Atrophy With Congenital Bone Fractures	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	34858519, 40180167	Associate	★☆☆☆☆ Found in Text Mining only