TBX4 (T-box transcription factor 4)

Gene

• Entrez ID: 9496
• Gene name: T-box transcription factor 4
• Gene symbol: TBX4
• Synonyms (NCBI Gene): ICPPS, PAPPAS, SPS
• Chromosome: 17
• Chromosome location: 17q23.2
• Summary: This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human homolog of mous

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28936696	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs28938474	G>T	Pathogenic	Missense variant, coding sequence variant
rs104894648	C>T	Pathogenic	Stop gained, coding sequence variant
rs754897911	C>-,CC	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs886041115	T>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1397811125	G>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1555881112	G>A,T	Pathogenic	Splice donor variant
rs1555882009	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555882291	CCCTTTGGCC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555883338	TTC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555883342	G>A	Uncertain-significance, pathogenic	Splice donor variant
rs1555883466	C>T	Pathogenic	Stop gained, coding sequence variant
rs1569036773	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1569044884	C>T	Pathogenic	Coding sequence variant, stop gained
rs1603248167	TTCCGGGCCC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1603248606	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1603251001	T>A	Pathogenic	Coding sequence variant, stop gained
rs1603251494	G>A	Pathogenic	Coding sequence variant, stop gained
rs1603254792	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1603255224	G>C	Pathogenic	Splice acceptor variant
rs1603255267	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1603255327	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1603255336	->ATCA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1603255339	GA>TT	Likely-pathogenic	Coding sequence variant, stop gained
rs1603256040	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1603256095	CCCCCAGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025176	hsa-miR-181a-5p	Microarray	17612493
MIRT607705	hsa-miR-8485	HITS-CLIP	23313552
MIRT607702	hsa-miR-603	HITS-CLIP	23313552
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23313552
MIRT607700	hsa-miR-6128	HITS-CLIP	23313552
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23313552
MIRT550395	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT550388	hsa-miR-6083	HITS-CLIP	23313552
MIRT550387	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT625561	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607704	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607703	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607699	hsa-miR-3941	HITS-CLIP	23824327
MIRT670189	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT625563	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT625562	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT625561	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT625560	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT625563	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT625562	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT625561	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT625560	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT625559	hsa-miR-578	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT625563	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT625562	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT625561	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT625560	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT625559	hsa-miR-578	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	24906430
MIRT607704	hsa-miR-329-3p	HITS-CLIP	24906430
MIRT607703	hsa-miR-362-3p	HITS-CLIP	24906430
MIRT607702	hsa-miR-603	HITS-CLIP	24906430
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	24906430
MIRT607700	hsa-miR-6128	HITS-CLIP	24906430
MIRT607699	hsa-miR-3941	HITS-CLIP	24906430
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	24906430
MIRT550395	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT550389	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT550388	hsa-miR-6083	PAR-CLIP	20371350
MIRT550387	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT550396	hsa-miR-648	PAR-CLIP	21572407
MIRT550395	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT550394	hsa-miR-3137	PAR-CLIP	21572407
MIRT550393	hsa-miR-20b-3p	PAR-CLIP	21572407
MIRT550392	hsa-miR-6073	PAR-CLIP	21572407
MIRT550391	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT550390	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT550389	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT550388	hsa-miR-6083	PAR-CLIP	21572407
MIRT550387	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT550386	hsa-miR-4455	PAR-CLIP	21572407
MIRT550385	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT607705	hsa-miR-8485	HITS-CLIP	23313552
MIRT607702	hsa-miR-603	HITS-CLIP	23313552
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23313552
MIRT607700	hsa-miR-6128	HITS-CLIP	23313552
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23313552
MIRT550395	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT550388	hsa-miR-6083	HITS-CLIP	23313552
MIRT550387	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT625561	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607704	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607703	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607699	hsa-miR-3941	HITS-CLIP	23824327
MIRT670189	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT625563	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT625562	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT625561	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT625560	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT625563	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT625562	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT625561	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT625560	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT625559	hsa-miR-578	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT625563	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT625562	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT625561	hsa-miR-4724-3p	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT625560	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT625559	hsa-miR-578	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT607705	hsa-miR-8485	HITS-CLIP	23824327
MIRT607702	hsa-miR-603	HITS-CLIP	23824327
MIRT607701	hsa-miR-6757-3p	HITS-CLIP	23824327
MIRT607700	hsa-miR-6128	HITS-CLIP	23824327
MIRT607698	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT550395	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT550389	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT550388	hsa-miR-6083	PAR-CLIP	20371350
MIRT550387	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT550396	hsa-miR-648	PAR-CLIP	21572407
MIRT550395	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT550394	hsa-miR-3137	PAR-CLIP	21572407
MIRT550393	hsa-miR-20b-3p	PAR-CLIP	21572407
MIRT550392	hsa-miR-6073	PAR-CLIP	21572407
MIRT550391	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT550390	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT550389	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT550388	hsa-miR-6083	PAR-CLIP	21572407
MIRT550387	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT550386	hsa-miR-4455	PAR-CLIP	21572407
MIRT550385	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT1415285	hsa-miR-1224-3p	CLIP-seq
MIRT1415286	hsa-miR-125a-5p	CLIP-seq
MIRT1415287	hsa-miR-125b	CLIP-seq
MIRT1415288	hsa-miR-1272	CLIP-seq
MIRT1415289	hsa-miR-146a	CLIP-seq
MIRT1415290	hsa-miR-146b-5p	CLIP-seq
MIRT1415291	hsa-miR-185	CLIP-seq
MIRT1415292	hsa-miR-329	CLIP-seq
MIRT1415293	hsa-miR-3925-5p	CLIP-seq
MIRT1415294	hsa-miR-4286	CLIP-seq
MIRT1415295	hsa-miR-4306	CLIP-seq
MIRT1415296	hsa-miR-4319	CLIP-seq
MIRT1415297	hsa-miR-4427	CLIP-seq
MIRT1415298	hsa-miR-4644	CLIP-seq
MIRT1415299	hsa-miR-4680-3p	CLIP-seq
MIRT1415300	hsa-miR-4708-5p	CLIP-seq
MIRT1415301	hsa-miR-4756-3p	CLIP-seq
MIRT1415285	hsa-miR-1224-3p	CLIP-seq
MIRT2124629	hsa-miR-3925-3p	CLIP-seq
MIRT1415292	hsa-miR-329	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PITX1	Unknown	20598276

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001525	Process	Angiogenesis	IBA
GO:0001525	Process	Angiogenesis	IEA
GO:0001708	Process	Cell fate specification	IBA
GO:0002009	Process	Morphogenesis of an epithelium	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	NAS	15106123
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0030324	Process	Lung development	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0035108	Process	Limb morphogenesis	IEA
GO:0035108	Process	Limb morphogenesis	IMP	15106123
GO:0035116	Process	Embryonic hindlimb morphogenesis	IMP	31761294
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0048705	Process	Skeletal system morphogenesis	IMP	15106123
GO:1990401	Process	Embryonic lung development	IMP	31761294

Other IDs

• MIM: 601719
• HGNC: 11603
• e!Ensembl: ENSG00000121075

Protein

• UniProt ID: P57082
• Protein name: T-box transcription factor TBX4 (T-box protein 4)
• Protein function: Transcriptional regulator that has an essential role in the organogenesis of lungs, pelvis, and hindlimbs.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00907	T-box	69 → 251	T-box	Domain

• Sequence:

  MLQDKGLSESEEAFRAPGPALGEASAANAPEPALAAPGLSGAALGSPPGPGADVVAAAAA
  EQTIENIKVGLHEKELWKKFHEAGTEMIITKAGRRMFPSYKVKVTGMNPKTKYILLIDIV
  PADDHRYKFCDNKWMVAGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNHLDP
  FGHIILNSMHKYQPRLHIVKADENNAFGSKNTAFCTHVFPETSFISVTSYQNHKITQLKI
  ENNPFAKGFRGSDDSDLRVARLQSKEYPVISKSIMRQRLISPQLSATPDVGPLLGTHQAL
  QHYQHENGAHSQLAEPQDLPLSTFPTQRDSSLFYHCLKRRDGTRHLDLPCKRSYLEAPSS
  VGEDHYFRSPPPYDQQMLSPSYCSEVTPREACMYSGSGPEIAGVSGVDDLPPPPLSCNMW
  TSVSPYTSYSVQTMETVPYQPFPTHFTATTMMPRLPTLSAQSSQPPGNAHFSVYNQLSQS
  QVRERGPSASFPRERGLPQGCERKPPSPHLNAANEFLYSQTFSLSRESSLQYHSGMGTVE
  NWTDG

• Sequence length: 545

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
Abnormality of prenatal development or birth	Pathogenic	rs1603251001	RCV001814249	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive amelia	Pathogenic	rs2143821228, rs1603251494, rs1603251001	RCV001829353 RCV001251075 RCV000993789	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coxopodopatellar syndrome	Likely pathogenic; Pathogenic	rs1428934331, rs774711057, rs1569046598, rs2143860927, rs868469301, rs1159276152, rs28938474, rs104894648, rs28936696, rs2509555498, rs1555882291, rs1569044884, rs1569036773, rs1603251494, rs1603248606, rs1603256040, rs1603255224, rs1603251001, rs1555881112, rs754897911, rs2060654742	RCV001827592 RCV002074388 RCV001829334 RCV001829359 RCV002249189 RCV002795926 RCV000008305 RCV000008306 RCV000008307 RCV003984957 RCV001829826 RCV005253110 RCV000782140 RCV001251076 RCV000984861 RCV000984862 RCV000984863 RCV000993790 RCV000995662 RCV001251174 RCV001261981	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary pulmonary hypoplasia	Likely pathogenic; Pathogenic	rs754897911	RCV001843368	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary arterial hypertension	Likely pathogenic; Pathogenic	rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095	RCV001003777 RCV001003778 RCV001003779 RCV001003780 RCV001003781 RCV001003782 RCV001003783 RCV001003784	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary arterial hypertension associated with congenital heart disease	Likely pathogenic; Pathogenic	rs1555883342, rs1555882009, rs1555882291, rs1555883338, rs754897911	RCV000664178 RCV000664176 RCV000664180 RCV000664182 RCV000664179	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary hypertension, primary, 1	Likely pathogenic; Pathogenic	rs1428934331, rs774711057, rs2143857127, rs1209188502, rs2143792602, rs2143821238, rs747369610, rs766300906, rs2143792571, rs2143792897, rs2143795994, rs2143856709, rs2143861174, rs150233337, rs1183527120, rs2143872061, rs2060654004, rs1555883342, rs754897911, rs1603248606, rs1603256040, rs1603255224, rs1603248167, rs1603255327, rs1603256095	RCV001827592 RCV001829318 RCV001829327 RCV001829328 RCV001829330 RCV001829331 RCV001829339 RCV001829349 RCV001829350 RCV001829354 RCV001829355 RCV001829361 RCV001829364 RCV001829366 RCV001829369 RCV001829370 RCV001829377 RCV001829824 RCV001829825 RCV001827122 RCV001827123 RCV001827124 RCV001827161 RCV001827162 RCV001827163 RCV001827165	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TBX4-related disorder	Likely pathogenic; Pathogenic	rs2509566796, rs1555883342	RCV003335974 RCV004547833	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
17Q23.1Q23.2 MICRODELETION SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELIA, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELIA, POSTERIOR, WITH PELVIC AND PULMONARY HYPOPLASIA SYNDROME	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME 17Q23.1-Q23.2 DUPLICATION SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOPLASIA OF LUNG	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL CLUBFOOT DUE TO 17Q23.1Q23.2 MICRODUPLICATION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PRIMARY PULMONARY HYPERTENSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERITABLE PULMONARY ARTERIAL HYPERTENSION	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDRONEPHROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPLASTIC LEFT HEART SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PATELLA APLASIA, COXA VARA, TARSAL SYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SACRAL AGENESIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRAAMELIA MULTIPLE MALFORMATIONS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
17q23.1q23.2 microdeletion syndrome	17q23.1-Q23.2 Deletion Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alveolar capillary dysplasia	Alveolar capillary dysplasia	Pubtator	37821225, 40008593	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	21954337		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30252721, 30878321, 31675602		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30252721, 30878321, 31675602		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	29070031	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	35852389	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	31761294	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19454617	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiolitis Obliterans	Bronchiolitis obliterans	Pubtator	35075769	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	21692051	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30287033		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	21954337	Associate	★☆☆☆☆ Found in Text Mining only
CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME	17q23.1-Q23.2 Deletion Syndrome	ORPHANET_DG	21271665		★☆☆☆☆ Found in Text Mining only
CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME	17q23.1-Q23.2 Duplication Syndrome	ORPHANET_DG	20598276		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	26634245		★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	20598276, 22678995, 32518174, 36360195	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30521889		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	BEFREE	20598276, 22678995, 24592505, 27395407, 28919208		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contracture	Congenital contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	27833996		★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	BEFREE	20887794		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	Pubtator	36085161	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of femur	Short femur	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	BEFREE	27833996, 30639323, 31761294		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital microcephaly	Congenital Microcephaly	BEFREE	21271665		★☆☆☆☆ Found in Text Mining only
Coxa Magna	Coxa Magna	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coxopodopatellar syndrome	Coxopodopatellar Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Depressive disorder	Mental Depression	BEFREE	30252721		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	30639323		★☆☆☆☆ Found in Text Mining only
Developmental Dysplasia of the Hip	Developmental dysplasia of the hip	Pubtator	20887794, 36454308	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	22678995		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	28948077		★☆☆☆☆ Found in Text Mining only
Familial clubfoot due to 17q23.1q23.2 microduplication	Clubfoot	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial primary pulmonary hypertension	Pulmonary Hypertension	ORPHANET_DG	23502781, 23592887		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	27453251, 27587546	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial primary pulmonary hypertension	Pulmonary Hypertension	GENOMICS_ENGLAND_DG	27694411		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pulmonary arterial hypertension	Pulmonary arterial hypertension	ORPHANET_DG	23502781, 23592887		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Genitopatellar Syndrome	Genitopatellar Syndrome	BEFREE	16761293		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	31309540	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	31151956	Associate	★☆☆☆☆ Found in Text Mining only
Heritable pulmonary arterial hypertension	Heritable Pulmonary Arterial Hypertension	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrops Fetalis	Hydrops fetalis	Pubtator	31965066	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	28421299		★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	30290780, 31151956, 31309540, 32079640	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	21271665, 30290780, 31309540		★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic left heart syndrome	Pubtator	31965066	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	23592887, 27453251, 27649371, 27770446, 31406341, 31727138		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	GENOMICS_ENGLAND_DG	27694411		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	GENOMICS_ENGLAND_DG	27694411		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	31151956	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	30413314		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	30413314, 30639323, 31151956, 31309540, 31965066, 35075769, 35852389, 37821225	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	35075769, 35852389	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30287033		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29485009		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30252721		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	31309540	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21788354, 21954337, 30521889		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	21334180		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	21954337		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28948077		★☆☆☆☆ Found in Text Mining only
Patella aplasia, coxa vara, tarsal synostosis	Coxopodopatellar syndrome	ORPHANET_DG	15106123		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	29596995, 30056129		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	21334180		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	23592887, 27453251		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	23592887, 27453251, 29631995, 30578383, 31727138, 32079640, 32348326, 34199176, 35075769, 35346192, 35852389, 36142358	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary arterial hypertension	Pulmonary arterial hypertension	GENOMICS_ENGLAND_DG	27694411		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary arterial hypertension associated with congenital heart disease	Pulmonary Arterial Hypertension Associated With Congenital Heart Disease	CLINVAR_DG	30029678		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT	Pulmonary venoocclusive disease	BEFREE	27587546		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	30828993		★☆☆☆☆ Found in Text Mining only
Sacral defect and anterior sacral meningocele	Sacral defect	Pubtator	31965066	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21334180		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin-picking	Skin-picking	BEFREE	27885889		★☆☆☆☆ Found in Text Mining only
SMALL PATELLA SYNDROME	SMALL PATELLA SYNDROME	BEFREE	15106123, 23592887, 31336002, 31461372, 31761294		★☆☆☆☆ Found in Text Mining only
SMALL PATELLA SYNDROME	SMALL PATELLA SYNDROME	ORPHANET_DG	15106123		★☆☆☆☆ Found in Text Mining only
SMALL PATELLA SYNDROME	SMALL PATELLA SYNDROME	UNIPROT_DG	15106123		★☆☆☆☆ Found in Text Mining only
SMALL PATELLA SYNDROME	SMALL PATELLA SYNDROME	GENOMICS_ENGLAND_DG	15106123, 27694411		★☆☆☆☆ Found in Text Mining only
SMALL PATELLA SYNDROME	SMALL PATELLA SYNDROME	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
SMALL PATELLA SYNDROME	SMALL PATELLA SYNDROME	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Stiff-Person Syndrome	Stiff-Person Syndrome	GENOMICS_ENGLAND_DG	27694411		★☆☆☆☆ Found in Text Mining only
Stiff-Person Syndrome	Stiff-Person Syndrome	BEFREE	31336002, 31461372		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tracheal Stenosis	Tracheal Stenosis	BEFREE	19581825		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	34199176	Associate	★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	BEFREE	28236079		★☆☆☆☆ Found in Text Mining only