ZBTB42 (zinc finger and BTB domain containing 42)

Gene

• Entrez ID: 100128927
• Gene name: Zinc finger and BTB domain containing 42
• Gene symbol: ZBTB42
• Synonyms (NCBI Gene): LCCS6, ZNF925
• Chromosome: 14
• Chromosome location: 14q32.33
• Summary: The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the prote

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs730882163	G>A	Pathogenic	Coding sequence variant, missense variant
rs1368607213	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT608387	hsa-miR-8485	HITS-CLIP	23313552
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT608384	hsa-miR-603	HITS-CLIP	23313552
MIRT608383	hsa-miR-3941	HITS-CLIP	23313552
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608382	hsa-miR-5689	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	24906430
MIRT608386	hsa-miR-329-3p	HITS-CLIP	24906430
MIRT608385	hsa-miR-362-3p	HITS-CLIP	24906430
MIRT608384	hsa-miR-603	HITS-CLIP	24906430
MIRT608382	hsa-miR-5689	HITS-CLIP	24906430
MIRT608383	hsa-miR-3941	HITS-CLIP	24906430
MIRT608386	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT608386	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT608385	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT608385	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT608383	hsa-miR-3941	HITS-CLIP	27418678
MIRT608383	hsa-miR-3941	HITS-CLIP	27418678
MIRT608384	hsa-miR-603	HITS-CLIP	27418678
MIRT608384	hsa-miR-603	HITS-CLIP	27418678
MIRT608387	hsa-miR-8485	HITS-CLIP	27418678
MIRT608387	hsa-miR-8485	HITS-CLIP	27418678
MIRT608387	hsa-miR-8485	HITS-CLIP	23313552
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT608384	hsa-miR-603	HITS-CLIP	23313552
MIRT608383	hsa-miR-3941	HITS-CLIP	23313552
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608382	hsa-miR-5689	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT608387	hsa-miR-8485	HITS-CLIP	23824327
MIRT608386	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT608385	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608384	hsa-miR-603	HITS-CLIP	23824327
MIRT608383	hsa-miR-3941	HITS-CLIP	23824327
MIRT1503453	hsa-miR-103a	CLIP-seq
MIRT1503454	hsa-miR-107	CLIP-seq
MIRT1503455	hsa-miR-1179	CLIP-seq
MIRT1503456	hsa-miR-1207-5p	CLIP-seq
MIRT1503457	hsa-miR-1260	CLIP-seq
MIRT1503458	hsa-miR-1260b	CLIP-seq
MIRT1503459	hsa-miR-1270	CLIP-seq
MIRT1503460	hsa-miR-1275	CLIP-seq
MIRT1503461	hsa-miR-1322	CLIP-seq
MIRT1503462	hsa-miR-148a	CLIP-seq
MIRT1503463	hsa-miR-148b	CLIP-seq
MIRT1503464	hsa-miR-149	CLIP-seq
MIRT1503465	hsa-miR-150	CLIP-seq
MIRT1503466	hsa-miR-152	CLIP-seq
MIRT1503467	hsa-miR-15a	CLIP-seq
MIRT1503468	hsa-miR-15b	CLIP-seq
MIRT1503469	hsa-miR-16	CLIP-seq
MIRT1503470	hsa-miR-1825	CLIP-seq
MIRT1503471	hsa-miR-1827	CLIP-seq
MIRT1503472	hsa-miR-185	CLIP-seq
MIRT1503473	hsa-miR-188-3p	CLIP-seq
MIRT1503474	hsa-miR-1913	CLIP-seq
MIRT1503475	hsa-miR-1915	CLIP-seq
MIRT1503476	hsa-miR-195	CLIP-seq
MIRT1503477	hsa-miR-199a-5p	CLIP-seq
MIRT1503478	hsa-miR-199b-5p	CLIP-seq
MIRT1503479	hsa-miR-219-1-3p	CLIP-seq
MIRT1503480	hsa-miR-223	CLIP-seq
MIRT1503481	hsa-miR-2355-3p	CLIP-seq
MIRT1503482	hsa-miR-2682	CLIP-seq
MIRT1503483	hsa-miR-298	CLIP-seq
MIRT1503484	hsa-miR-3064-3p	CLIP-seq
MIRT1503485	hsa-miR-3065-5p	CLIP-seq
MIRT1503486	hsa-miR-3125	CLIP-seq
MIRT1503487	hsa-miR-3130-3p	CLIP-seq
MIRT1503488	hsa-miR-3135	CLIP-seq
MIRT1503489	hsa-miR-3135b	CLIP-seq
MIRT1503490	hsa-miR-3152-5p	CLIP-seq
MIRT1503491	hsa-miR-3156-3p	CLIP-seq
MIRT1503492	hsa-miR-3163	CLIP-seq
MIRT1503493	hsa-miR-3177-3p	CLIP-seq
MIRT1503494	hsa-miR-3178	CLIP-seq
MIRT1503495	hsa-miR-3188	CLIP-seq
MIRT1503496	hsa-miR-3191	CLIP-seq
MIRT1503497	hsa-miR-324-3p	CLIP-seq
MIRT1503498	hsa-miR-329	CLIP-seq
MIRT1503499	hsa-miR-331-3p	CLIP-seq
MIRT1503500	hsa-miR-340	CLIP-seq
MIRT1503501	hsa-miR-346	CLIP-seq
MIRT1503502	hsa-miR-3591-5p	CLIP-seq
MIRT1503503	hsa-miR-3620	CLIP-seq
MIRT1503504	hsa-miR-3646	CLIP-seq
MIRT1503505	hsa-miR-365	CLIP-seq
MIRT1503506	hsa-miR-3652	CLIP-seq
MIRT1503507	hsa-miR-3662	CLIP-seq
MIRT1503508	hsa-miR-3916	CLIP-seq
MIRT1503509	hsa-miR-3944-5p	CLIP-seq
MIRT1503510	hsa-miR-424	CLIP-seq
MIRT1503511	hsa-miR-4264	CLIP-seq
MIRT1503512	hsa-miR-4288	CLIP-seq
MIRT1503513	hsa-miR-4292	CLIP-seq
MIRT1503514	hsa-miR-4301	CLIP-seq
MIRT1503515	hsa-miR-4306	CLIP-seq
MIRT1503516	hsa-miR-4310	CLIP-seq
MIRT1503517	hsa-miR-4312	CLIP-seq
MIRT1503518	hsa-miR-4430	CLIP-seq
MIRT1503519	hsa-miR-4436b-3p	CLIP-seq
MIRT1503520	hsa-miR-4480	CLIP-seq
MIRT1503521	hsa-miR-4488	CLIP-seq
MIRT1503522	hsa-miR-449c	CLIP-seq
MIRT1503523	hsa-miR-4505	CLIP-seq
MIRT1503524	hsa-miR-4523	CLIP-seq
MIRT1503525	hsa-miR-4525	CLIP-seq
MIRT1503526	hsa-miR-4530	CLIP-seq
MIRT1503527	hsa-miR-4531	CLIP-seq
MIRT1503528	hsa-miR-4644	CLIP-seq
MIRT1503529	hsa-miR-4646-3p	CLIP-seq
MIRT1503530	hsa-miR-4649-3p	CLIP-seq
MIRT1503531	hsa-miR-4650-5p	CLIP-seq
MIRT1503532	hsa-miR-4662a-3p	CLIP-seq
MIRT1503533	hsa-miR-4665-5p	CLIP-seq
MIRT1503534	hsa-miR-4685-5p	CLIP-seq
MIRT1503535	hsa-miR-4691-3p	CLIP-seq
MIRT1503536	hsa-miR-4697-3p	CLIP-seq
MIRT1503537	hsa-miR-4697-5p	CLIP-seq
MIRT1503538	hsa-miR-4704-3p	CLIP-seq
MIRT1503539	hsa-miR-4708-5p	CLIP-seq
MIRT1503540	hsa-miR-4711-3p	CLIP-seq
MIRT1503541	hsa-miR-4713-5p	CLIP-seq
MIRT1503542	hsa-miR-4723-5p	CLIP-seq
MIRT1503543	hsa-miR-4727-5p	CLIP-seq
MIRT1503544	hsa-miR-4730	CLIP-seq
MIRT1503545	hsa-miR-4733-3p	CLIP-seq
MIRT1503546	hsa-miR-4743	CLIP-seq
MIRT1503547	hsa-miR-4749-3p	CLIP-seq
MIRT1503548	hsa-miR-4755-3p	CLIP-seq
MIRT1503549	hsa-miR-4757-5p	CLIP-seq
MIRT1503550	hsa-miR-4763-3p	CLIP-seq
MIRT1503551	hsa-miR-4768-5p	CLIP-seq
MIRT1503552	hsa-miR-4769-3p	CLIP-seq
MIRT1503553	hsa-miR-4774-3p	CLIP-seq
MIRT1503554	hsa-miR-4793-3p	CLIP-seq
MIRT1503555	hsa-miR-497	CLIP-seq
MIRT1503556	hsa-miR-512-5p	CLIP-seq
MIRT1503557	hsa-miR-516a-3p	CLIP-seq
MIRT1503558	hsa-miR-532-3p	CLIP-seq
MIRT1503559	hsa-miR-545	CLIP-seq
MIRT1503560	hsa-miR-571	CLIP-seq
MIRT1503561	hsa-miR-581	CLIP-seq
MIRT1503562	hsa-miR-592	CLIP-seq
MIRT1503563	hsa-miR-597	CLIP-seq
MIRT1503564	hsa-miR-599	CLIP-seq
MIRT1503565	hsa-miR-620	CLIP-seq
MIRT1503566	hsa-miR-625	CLIP-seq
MIRT1503567	hsa-miR-632	CLIP-seq
MIRT1503568	hsa-miR-637	CLIP-seq
MIRT1503569	hsa-miR-647	CLIP-seq
MIRT1503570	hsa-miR-661	CLIP-seq
MIRT1503571	hsa-miR-665	CLIP-seq
MIRT1503572	hsa-miR-760	CLIP-seq
MIRT1503573	hsa-miR-767-3p	CLIP-seq
MIRT1503574	hsa-miR-892a	CLIP-seq
MIRT1503575	hsa-miR-935	CLIP-seq
MIRT1503576	hsa-miR-940	CLIP-seq
MIRT1503453	hsa-miR-103a	CLIP-seq
MIRT1503454	hsa-miR-107	CLIP-seq
MIRT1503455	hsa-miR-1179	CLIP-seq
MIRT1503456	hsa-miR-1207-5p	CLIP-seq
MIRT2151450	hsa-miR-1208	CLIP-seq
MIRT2151451	hsa-miR-1226	CLIP-seq
MIRT2151452	hsa-miR-1257	CLIP-seq
MIRT1503457	hsa-miR-1260	CLIP-seq
MIRT1503458	hsa-miR-1260b	CLIP-seq
MIRT1503459	hsa-miR-1270	CLIP-seq
MIRT1503460	hsa-miR-1275	CLIP-seq
MIRT2151453	hsa-miR-1281	CLIP-seq
MIRT2151454	hsa-miR-136	CLIP-seq
MIRT2151455	hsa-miR-138	CLIP-seq
MIRT2151456	hsa-miR-143	CLIP-seq
MIRT2151457	hsa-miR-145	CLIP-seq
MIRT1503465	hsa-miR-150	CLIP-seq
MIRT2151458	hsa-miR-151-5p	CLIP-seq
MIRT2151459	hsa-miR-151b	CLIP-seq
MIRT1503470	hsa-miR-1825	CLIP-seq
MIRT1503471	hsa-miR-1827	CLIP-seq
MIRT1503472	hsa-miR-185	CLIP-seq
MIRT1503473	hsa-miR-188-3p	CLIP-seq
MIRT2151460	hsa-miR-1976	CLIP-seq
MIRT1503477	hsa-miR-199a-5p	CLIP-seq
MIRT1503478	hsa-miR-199b-5p	CLIP-seq
MIRT1503479	hsa-miR-219-1-3p	CLIP-seq
MIRT1503482	hsa-miR-2682	CLIP-seq
MIRT2151461	hsa-miR-3065-3p	CLIP-seq
MIRT2151462	hsa-miR-3123	CLIP-seq
MIRT1503486	hsa-miR-3125	CLIP-seq
MIRT2151463	hsa-miR-3126-3p	CLIP-seq
MIRT1503487	hsa-miR-3130-3p	CLIP-seq
MIRT2151464	hsa-miR-3131	CLIP-seq
MIRT1503488	hsa-miR-3135	CLIP-seq
MIRT1503489	hsa-miR-3135b	CLIP-seq
MIRT2151465	hsa-miR-3136-3p	CLIP-seq
MIRT2151466	hsa-miR-3151	CLIP-seq
MIRT2151467	hsa-miR-3155	CLIP-seq
MIRT2151468	hsa-miR-3155b	CLIP-seq
MIRT1503491	hsa-miR-3156-3p	CLIP-seq
MIRT2151469	hsa-miR-3166	CLIP-seq
MIRT2151470	hsa-miR-3194-3p	CLIP-seq
MIRT1503498	hsa-miR-329	CLIP-seq
MIRT1503501	hsa-miR-346	CLIP-seq
MIRT1503502	hsa-miR-3591-5p	CLIP-seq
MIRT2151471	hsa-miR-3607-5p	CLIP-seq
MIRT2151472	hsa-miR-3612	CLIP-seq
MIRT2151473	hsa-miR-361-3p	CLIP-seq
MIRT2151474	hsa-miR-3649	CLIP-seq
MIRT1503506	hsa-miR-3652	CLIP-seq
MIRT2151475	hsa-miR-3660	CLIP-seq
MIRT2151476	hsa-miR-3679-3p	CLIP-seq
MIRT2151477	hsa-miR-3680	CLIP-seq
MIRT2151478	hsa-miR-3689a-3p	CLIP-seq
MIRT2151479	hsa-miR-3689c	CLIP-seq
MIRT2151480	hsa-miR-370	CLIP-seq
MIRT2151481	hsa-miR-3913-3p	CLIP-seq
MIRT1503508	hsa-miR-3916	CLIP-seq
MIRT2151482	hsa-miR-3918	CLIP-seq
MIRT2151483	hsa-miR-3929	CLIP-seq
MIRT2151484	hsa-miR-4256	CLIP-seq
MIRT2151485	hsa-miR-4269	CLIP-seq
MIRT2151486	hsa-miR-4283	CLIP-seq
MIRT1503512	hsa-miR-4288	CLIP-seq
MIRT1503514	hsa-miR-4301	CLIP-seq
MIRT2151487	hsa-miR-4305	CLIP-seq
MIRT1503515	hsa-miR-4306	CLIP-seq
MIRT1503516	hsa-miR-4310	CLIP-seq
MIRT2151488	hsa-miR-4419b	CLIP-seq
MIRT2151489	hsa-miR-4423-3p	CLIP-seq
MIRT2151490	hsa-miR-4428	CLIP-seq
MIRT1503518	hsa-miR-4430	CLIP-seq
MIRT2151491	hsa-miR-4433	CLIP-seq
MIRT1503519	hsa-miR-4436b-3p	CLIP-seq
MIRT2151492	hsa-miR-4443	CLIP-seq
MIRT2151493	hsa-miR-4459	CLIP-seq
MIRT2151494	hsa-miR-4474-3p	CLIP-seq
MIRT2151495	hsa-miR-4476	CLIP-seq
MIRT2151496	hsa-miR-4478	CLIP-seq
MIRT1503520	hsa-miR-4480	CLIP-seq
MIRT2151497	hsa-miR-4486	CLIP-seq
MIRT2151498	hsa-miR-4487	CLIP-seq
MIRT1503521	hsa-miR-4488	CLIP-seq
MIRT2151499	hsa-miR-4489	CLIP-seq
MIRT1503522	hsa-miR-449c	CLIP-seq
MIRT1503523	hsa-miR-4505	CLIP-seq
MIRT2151500	hsa-miR-4514	CLIP-seq
MIRT2151501	hsa-miR-451b	CLIP-seq
MIRT2151502	hsa-miR-4520a-3p	CLIP-seq
MIRT2151503	hsa-miR-4520b-3p	CLIP-seq
MIRT1503524	hsa-miR-4523	CLIP-seq
MIRT1503525	hsa-miR-4525	CLIP-seq
MIRT2151504	hsa-miR-4526	CLIP-seq
MIRT1503527	hsa-miR-4531	CLIP-seq
MIRT2151505	hsa-miR-4534	CLIP-seq
MIRT2151506	hsa-miR-4640-5p	CLIP-seq
MIRT1503528	hsa-miR-4644	CLIP-seq
MIRT1503530	hsa-miR-4649-3p	CLIP-seq
MIRT1503531	hsa-miR-4650-5p	CLIP-seq
MIRT2151507	hsa-miR-4661-3p	CLIP-seq
MIRT1503533	hsa-miR-4665-5p	CLIP-seq
MIRT2151508	hsa-miR-4692	CLIP-seq
MIRT2151509	hsa-miR-4693-3p	CLIP-seq
MIRT1503537	hsa-miR-4697-5p	CLIP-seq
MIRT1503540	hsa-miR-4711-3p	CLIP-seq
MIRT1503541	hsa-miR-4713-5p	CLIP-seq
MIRT1503542	hsa-miR-4723-5p	CLIP-seq
MIRT2151510	hsa-miR-4726-5p	CLIP-seq
MIRT2151511	hsa-miR-4728-5p	CLIP-seq
MIRT2151512	hsa-miR-4731-5p	CLIP-seq
MIRT2151513	hsa-miR-4740-3p	CLIP-seq
MIRT2151514	hsa-miR-4742-5p	CLIP-seq
MIRT1503546	hsa-miR-4743	CLIP-seq
MIRT1503548	hsa-miR-4755-3p	CLIP-seq
MIRT1503549	hsa-miR-4757-5p	CLIP-seq
MIRT2151515	hsa-miR-4760-3p	CLIP-seq
MIRT2151516	hsa-miR-4761-5p	CLIP-seq
MIRT2151517	hsa-miR-4762-3p	CLIP-seq
MIRT1503550	hsa-miR-4763-3p	CLIP-seq
MIRT2151518	hsa-miR-4768-3p	CLIP-seq
MIRT1503551	hsa-miR-4768-5p	CLIP-seq
MIRT2151519	hsa-miR-4770	CLIP-seq
MIRT1503554	hsa-miR-4793-3p	CLIP-seq
MIRT2151520	hsa-miR-4802-5p	CLIP-seq
MIRT2151521	hsa-miR-484	CLIP-seq
MIRT2151522	hsa-miR-486-3p	CLIP-seq
MIRT2151523	hsa-miR-489	CLIP-seq
MIRT1503558	hsa-miR-532-3p	CLIP-seq
MIRT2151524	hsa-miR-539	CLIP-seq
MIRT1503560	hsa-miR-571	CLIP-seq
MIRT2151525	hsa-miR-576-3p	CLIP-seq
MIRT2151526	hsa-miR-582-5p	CLIP-seq
MIRT2151527	hsa-miR-583	CLIP-seq
MIRT1503562	hsa-miR-592	CLIP-seq
MIRT2151528	hsa-miR-596	CLIP-seq
MIRT2151529	hsa-miR-604	CLIP-seq
MIRT2151530	hsa-miR-611	CLIP-seq
MIRT1503565	hsa-miR-620	CLIP-seq
MIRT2151531	hsa-miR-622	CLIP-seq
MIRT1503566	hsa-miR-625	CLIP-seq
MIRT1503567	hsa-miR-632	CLIP-seq
MIRT1503568	hsa-miR-637	CLIP-seq
MIRT1503569	hsa-miR-647	CLIP-seq
MIRT2151532	hsa-miR-650	CLIP-seq
MIRT2151533	hsa-miR-651	CLIP-seq
MIRT2151534	hsa-miR-660	CLIP-seq
MIRT1503570	hsa-miR-661	CLIP-seq
MIRT2151535	hsa-miR-662	CLIP-seq
MIRT1503571	hsa-miR-665	CLIP-seq
MIRT2151536	hsa-miR-7	CLIP-seq
MIRT2151537	hsa-miR-711	CLIP-seq
MIRT2151538	hsa-miR-764	CLIP-seq
MIRT1503573	hsa-miR-767-3p	CLIP-seq
MIRT2151539	hsa-miR-885-5p	CLIP-seq
MIRT1503576	hsa-miR-940	CLIP-seq
MIRT2371994	hsa-miR-1224-3p	CLIP-seq
MIRT2371995	hsa-miR-1228	CLIP-seq
MIRT1503457	hsa-miR-1260	CLIP-seq
MIRT1503458	hsa-miR-1260b	CLIP-seq
MIRT2371996	hsa-miR-1280	CLIP-seq
MIRT1503465	hsa-miR-150	CLIP-seq
MIRT2151458	hsa-miR-151-5p	CLIP-seq
MIRT2151459	hsa-miR-151b	CLIP-seq
MIRT2371997	hsa-miR-188-5p	CLIP-seq
MIRT1503480	hsa-miR-223	CLIP-seq
MIRT1503482	hsa-miR-2682	CLIP-seq
MIRT1503486	hsa-miR-3125	CLIP-seq
MIRT2151464	hsa-miR-3131	CLIP-seq
MIRT2151465	hsa-miR-3136-3p	CLIP-seq
MIRT2151467	hsa-miR-3155	CLIP-seq
MIRT2151468	hsa-miR-3155b	CLIP-seq
MIRT1503492	hsa-miR-3163	CLIP-seq
MIRT2151469	hsa-miR-3166	CLIP-seq
MIRT2371998	hsa-miR-3192	CLIP-seq
MIRT1503498	hsa-miR-329	CLIP-seq
MIRT1503500	hsa-miR-340	CLIP-seq
MIRT2151472	hsa-miR-3612	CLIP-seq
MIRT1503504	hsa-miR-3646	CLIP-seq
MIRT1503506	hsa-miR-3652	CLIP-seq
MIRT2371999	hsa-miR-3657	CLIP-seq
MIRT1503507	hsa-miR-3662	CLIP-seq
MIRT2372000	hsa-miR-3664-3p	CLIP-seq
MIRT2151478	hsa-miR-3689a-3p	CLIP-seq
MIRT2151479	hsa-miR-3689c	CLIP-seq
MIRT2372001	hsa-miR-377	CLIP-seq
MIRT1503508	hsa-miR-3916	CLIP-seq
MIRT2372002	hsa-miR-4279	CLIP-seq
MIRT1503518	hsa-miR-4430	CLIP-seq
MIRT2372003	hsa-miR-4436a	CLIP-seq
MIRT2151492	hsa-miR-4443	CLIP-seq
MIRT1503520	hsa-miR-4480	CLIP-seq
MIRT2372004	hsa-miR-4492	CLIP-seq
MIRT2372005	hsa-miR-4498	CLIP-seq
MIRT1503522	hsa-miR-449c	CLIP-seq
MIRT1503523	hsa-miR-4505	CLIP-seq
MIRT2151500	hsa-miR-4514	CLIP-seq
MIRT1503524	hsa-miR-4523	CLIP-seq
MIRT1503526	hsa-miR-4530	CLIP-seq
MIRT2151505	hsa-miR-4534	CLIP-seq
MIRT2372006	hsa-miR-4640-3p	CLIP-seq
MIRT1503530	hsa-miR-4649-3p	CLIP-seq
MIRT2372007	hsa-miR-4690-5p	CLIP-seq
MIRT2151508	hsa-miR-4692	CLIP-seq
MIRT1503536	hsa-miR-4697-3p	CLIP-seq
MIRT1503541	hsa-miR-4713-5p	CLIP-seq
MIRT2151511	hsa-miR-4728-5p	CLIP-seq
MIRT2151512	hsa-miR-4731-5p	CLIP-seq
MIRT2372008	hsa-miR-4753-5p	CLIP-seq
MIRT2151516	hsa-miR-4761-5p	CLIP-seq
MIRT2151518	hsa-miR-4768-3p	CLIP-seq
MIRT2151520	hsa-miR-4802-5p	CLIP-seq
MIRT2151521	hsa-miR-484	CLIP-seq
MIRT1503558	hsa-miR-532-3p	CLIP-seq
MIRT2372009	hsa-miR-548a-3p	CLIP-seq
MIRT2372010	hsa-miR-548e	CLIP-seq
MIRT2372011	hsa-miR-548f	CLIP-seq
MIRT2372012	hsa-miR-570	CLIP-seq
MIRT2151527	hsa-miR-583	CLIP-seq
MIRT2151529	hsa-miR-604	CLIP-seq
MIRT2151530	hsa-miR-611	CLIP-seq
MIRT2151531	hsa-miR-622	CLIP-seq
MIRT2372013	hsa-miR-623	CLIP-seq
MIRT2372014	hsa-miR-634	CLIP-seq
MIRT2151532	hsa-miR-650	CLIP-seq
MIRT1503571	hsa-miR-665	CLIP-seq
MIRT2151537	hsa-miR-711	CLIP-seq
MIRT2372015	hsa-miR-759	CLIP-seq
MIRT2372016	hsa-miR-762	CLIP-seq
MIRT2372017	hsa-miR-922	CLIP-seq
MIRT1503575	hsa-miR-935	CLIP-seq
MIRT1503576	hsa-miR-940	CLIP-seq
MIRT1503453	hsa-miR-103a	CLIP-seq
MIRT1503454	hsa-miR-107	CLIP-seq
MIRT1503455	hsa-miR-1179	CLIP-seq
MIRT1503471	hsa-miR-1827	CLIP-seq
MIRT2397212	hsa-miR-25	CLIP-seq
MIRT2397213	hsa-miR-302f	CLIP-seq
MIRT2397214	hsa-miR-32	CLIP-seq
MIRT1503498	hsa-miR-329	CLIP-seq
MIRT2397215	hsa-miR-363	CLIP-seq
MIRT2397216	hsa-miR-367	CLIP-seq
MIRT2397217	hsa-miR-4302	CLIP-seq
MIRT1503516	hsa-miR-4310	CLIP-seq
MIRT1503520	hsa-miR-4480	CLIP-seq
MIRT2397218	hsa-miR-92a	CLIP-seq
MIRT2397219	hsa-miR-92b	CLIP-seq
MIRT1503459	hsa-miR-1270	CLIP-seq
MIRT1503472	hsa-miR-185	CLIP-seq
MIRT1503479	hsa-miR-219-1-3p	CLIP-seq
MIRT2463795	hsa-miR-3184	CLIP-seq
MIRT1503498	hsa-miR-329	CLIP-seq
MIRT2151482	hsa-miR-3918	CLIP-seq
MIRT2463796	hsa-miR-423-5p	CLIP-seq
MIRT1503515	hsa-miR-4306	CLIP-seq
MIRT2463797	hsa-miR-4512	CLIP-seq
MIRT1503527	hsa-miR-4531	CLIP-seq
MIRT1503528	hsa-miR-4644	CLIP-seq
MIRT1503534	hsa-miR-4685-5p	CLIP-seq
MIRT2151509	hsa-miR-4693-3p	CLIP-seq
MIRT1503549	hsa-miR-4757-5p	CLIP-seq
MIRT2463798	hsa-miR-4786-5p	CLIP-seq
MIRT1503560	hsa-miR-571	CLIP-seq
MIRT1503565	hsa-miR-620	CLIP-seq
MIRT1503459	hsa-miR-1270	CLIP-seq
MIRT1503472	hsa-miR-185	CLIP-seq
MIRT1503479	hsa-miR-219-1-3p	CLIP-seq
MIRT2463795	hsa-miR-3184	CLIP-seq
MIRT2463796	hsa-miR-423-5p	CLIP-seq
MIRT1503515	hsa-miR-4306	CLIP-seq
MIRT1503527	hsa-miR-4531	CLIP-seq
MIRT1503528	hsa-miR-4644	CLIP-seq
MIRT2151509	hsa-miR-4693-3p	CLIP-seq
MIRT1503560	hsa-miR-571	CLIP-seq
MIRT1503565	hsa-miR-620	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	21193930
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007517	Process	Muscle organ development	IMP	25055871
GO:0008270	Function	Zinc ion binding	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 613915
• HGNC: 32550
• e!Ensembl: ENSG00000179627

Protein

• UniProt ID: B2RXF5
• Protein name: Zinc finger and BTB domain-containing protein 42
• Protein function: Transcriptional repressor. Specifically binds DNA and probably acts by recruiting chromatin remodeling multiprotein complexes.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00651	BTB	14 → 122	BTB/POZ domain	Domain
  PF13894	zf-C2H2_4	334 → 357		Domain
  PF00096	zf-C2H2	362 → 384	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	390 → 413	Zinc finger, C2H2 type	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in skeletal muscle (at protein level). {ECO:0000269|PubMed:21193930}.
• Sequence:

  MEFPEHGGRLLGRLRQQRELGFLCDCTVLVGDARFPAHRAVLAACSVYFHLFYRDRPAGS
  RDTVRLNGDIVTAPAFGRLLDFMYEGRLDLRSLPVEDVLAAASYLHMYDIVKVCKGRLQE
  KDRSLDPGNPAPGAEPAQPPCPWPVWTADLCPAARKAKLPPFGVKAALPPRASGPPPCQV
  PEESDQALDLSLKSGPRQERVHPPCVLQTPLCSQRQPGAQPLVKDERDSLSEQEESSSSR
  SPHSPPKPPPVPAAKGLVVGLQPLPLSGEGSRELELGAGRLASEDELGPGGPLCICPLCS
  KLFPSSHVLQLHLSAHFRERDSTRARLSPDGVAPTCPLCGKTFSCTYTLKRHERTHSGEK
  PYTCVQCGKSFQYSHNLSRHTVVHTREKPHACRWCERRFTQSGDLYRHVRKFHCGLVKSL
  LV

• Sequence length: 422

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DEFORMITY OF CLAVICLE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DEFORMITY OF ELBOW	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DEFORMITY OF FOREARM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DEFORMITY OF SCAPULA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DEFORMITY OF WRIST	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISLOCATION OF ELBOW	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISLOCATION OF GLENOHUMERAL JOINT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LETHAL CONGENITAL CONTRACTURE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lethal congenital contracture syndrome 6	Uncertain significance; Benign	ClinVar CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO CTD, ClinVar, Disgenet, GWAS catalog, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZBTB42-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Congenital contracture	Congenital contracture	BEFREE	25055871		★☆☆☆☆ Found in Text Mining only
Congenital contracture	Congenital contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	32590727	Associate	★☆☆☆☆ Found in Text Mining only
LETHAL CONGENITAL CONTRACTURE SYNDROME 6	Lethal Congenital Contracture Syndrome	BEFREE	25055871		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LETHAL CONGENITAL CONTRACTURE SYNDROME 6	Lethal Congenital Contracture Syndrome	UNIPROT_DG	25055871		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LETHAL CONGENITAL CONTRACTURE SYNDROME 6	Lethal Congenital Contracture Syndrome	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LETHAL CONGENITAL CONTRACTURE SYNDROME 6	Lethal Congenital Contracture Syndrome	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	20872231	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	24632578, 27876891	Associate	★☆☆☆☆ Found in Text Mining only