FZD2 (frizzled class receptor 2)

Gene

• Entrez ID: 2535
• Gene name: Frizzled class receptor 2
• Gene symbol: FZD2
• Synonyms (NCBI Gene): Fz2, OMOD2, fz-2, fzE2, hFz2
• Chromosome: 17
• Chromosome location: 17q21.31
• Summary: This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. This gene encodes a protein that i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1223920489	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555657045	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555657073	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555657074	GC>TT	Likely-pathogenic	Coding sequence variant, missense variant
rs1568105562	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1568105666	G>A	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT718685	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT718684	hsa-miR-6721-5p	HITS-CLIP	19536157
MIRT718683	hsa-miR-2117	HITS-CLIP	19536157
MIRT718682	hsa-miR-4425	HITS-CLIP	19536157
MIRT718681	hsa-miR-3147	HITS-CLIP	19536157
MIRT718680	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT718679	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT611376	hsa-miR-8485	HITS-CLIP	19536157
MIRT611375	hsa-miR-329-3p	HITS-CLIP	19536157
MIRT611374	hsa-miR-362-3p	HITS-CLIP	19536157
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	19536157
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	19536157
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	19536157
MIRT694764	hsa-miR-6732-3p	HITS-CLIP	23313552
MIRT694763	hsa-miR-5583-3p	HITS-CLIP	23313552
MIRT694762	hsa-miR-10a-5p	HITS-CLIP	23313552
MIRT694761	hsa-miR-10b-5p	HITS-CLIP	23313552
MIRT694760	hsa-miR-3618	HITS-CLIP	23313552
MIRT694759	hsa-miR-934	HITS-CLIP	23313552
MIRT694758	hsa-miR-4711-3p	HITS-CLIP	23313552
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT668244	hsa-miR-221-5p	HITS-CLIP	23824327
MIRT668243	hsa-miR-8073	HITS-CLIP	23824327
MIRT668242	hsa-miR-6789-3p	HITS-CLIP	23824327
MIRT668241	hsa-miR-566	HITS-CLIP	23824327
MIRT668240	hsa-miR-4279	HITS-CLIP	23824327
MIRT668239	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT620331	hsa-miR-6838-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT620330	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT620329	hsa-miR-1910-5p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT620331	hsa-miR-6838-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT620330	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT620329	hsa-miR-1910-5p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT620331	hsa-miR-6838-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT620330	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT620329	hsa-miR-1910-5p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT718685	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT718684	hsa-miR-6721-5p	HITS-CLIP	19536157
MIRT718683	hsa-miR-2117	HITS-CLIP	19536157
MIRT718682	hsa-miR-4425	HITS-CLIP	19536157
MIRT718681	hsa-miR-3147	HITS-CLIP	19536157
MIRT718680	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT718679	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT611376	hsa-miR-8485	HITS-CLIP	19536157
MIRT611375	hsa-miR-329-3p	HITS-CLIP	19536157
MIRT611374	hsa-miR-362-3p	HITS-CLIP	19536157
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	19536157
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	19536157
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	19536157
MIRT694764	hsa-miR-6732-3p	HITS-CLIP	23313552
MIRT694763	hsa-miR-5583-3p	HITS-CLIP	23313552
MIRT694762	hsa-miR-10a-5p	HITS-CLIP	23313552
MIRT694761	hsa-miR-10b-5p	HITS-CLIP	23313552
MIRT694760	hsa-miR-3618	HITS-CLIP	23313552
MIRT694759	hsa-miR-934	HITS-CLIP	23313552
MIRT694758	hsa-miR-4711-3p	HITS-CLIP	23313552
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT668244	hsa-miR-221-5p	HITS-CLIP	23824327
MIRT668243	hsa-miR-8073	HITS-CLIP	23824327
MIRT668242	hsa-miR-6789-3p	HITS-CLIP	23824327
MIRT668241	hsa-miR-566	HITS-CLIP	23824327
MIRT668240	hsa-miR-4279	HITS-CLIP	23824327
MIRT668239	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT620331	hsa-miR-6838-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT620330	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT620329	hsa-miR-1910-5p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT620331	hsa-miR-6838-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT620330	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT620329	hsa-miR-1910-5p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT620331	hsa-miR-6838-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT620330	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT620329	hsa-miR-1910-5p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT611376	hsa-miR-8485	HITS-CLIP	23824327
MIRT611375	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT611374	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT611373	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT611372	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT611371	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT1007787	hsa-miR-1205	CLIP-seq
MIRT1007788	hsa-miR-1252	CLIP-seq
MIRT1007789	hsa-miR-1264	CLIP-seq
MIRT1007790	hsa-miR-1273	CLIP-seq
MIRT1007791	hsa-miR-151-3p	CLIP-seq
MIRT1007792	hsa-miR-1827	CLIP-seq
MIRT1007793	hsa-miR-1909	CLIP-seq
MIRT1007794	hsa-miR-2114	CLIP-seq
MIRT1007795	hsa-miR-3119	CLIP-seq
MIRT1007796	hsa-miR-3153	CLIP-seq
MIRT1007797	hsa-miR-3613-3p	CLIP-seq
MIRT1007798	hsa-miR-3689a-3p	CLIP-seq
MIRT1007799	hsa-miR-3689c	CLIP-seq
MIRT1007800	hsa-miR-3689d	CLIP-seq
MIRT1007801	hsa-miR-371-5p	CLIP-seq
MIRT1007802	hsa-miR-371b-5p	CLIP-seq
MIRT1007803	hsa-miR-3929	CLIP-seq
MIRT1007804	hsa-miR-4261	CLIP-seq
MIRT1007805	hsa-miR-4271	CLIP-seq
MIRT1007806	hsa-miR-4418	CLIP-seq
MIRT1007807	hsa-miR-4419b	CLIP-seq
MIRT1007808	hsa-miR-4432	CLIP-seq
MIRT1007809	hsa-miR-4433	CLIP-seq
MIRT1007810	hsa-miR-4459	CLIP-seq
MIRT1007811	hsa-miR-4463	CLIP-seq
MIRT1007812	hsa-miR-4478	CLIP-seq
MIRT1007813	hsa-miR-4486	CLIP-seq
MIRT1007814	hsa-miR-4496	CLIP-seq
MIRT1007815	hsa-miR-4499	CLIP-seq
MIRT1007816	hsa-miR-4514	CLIP-seq
MIRT1007817	hsa-miR-451b	CLIP-seq
MIRT1007818	hsa-miR-4533	CLIP-seq
MIRT1007819	hsa-miR-4649-3p	CLIP-seq
MIRT1007820	hsa-miR-4649-5p	CLIP-seq
MIRT1007821	hsa-miR-4692	CLIP-seq
MIRT1007822	hsa-miR-4696	CLIP-seq
MIRT1007823	hsa-miR-4716-3p	CLIP-seq
MIRT1007824	hsa-miR-4719	CLIP-seq
MIRT1007825	hsa-miR-4722-5p	CLIP-seq
MIRT1007826	hsa-miR-4725-3p	CLIP-seq
MIRT1007827	hsa-miR-4728-5p	CLIP-seq
MIRT1007828	hsa-miR-4734	CLIP-seq
MIRT1007829	hsa-miR-4747-5p	CLIP-seq
MIRT1007830	hsa-miR-4756-3p	CLIP-seq
MIRT1007831	hsa-miR-4768-3p	CLIP-seq
MIRT1007832	hsa-miR-4793-3p	CLIP-seq
MIRT1007833	hsa-miR-485-5p	CLIP-seq
MIRT1007834	hsa-miR-490-3p	CLIP-seq
MIRT1007835	hsa-miR-508-5p	CLIP-seq
MIRT1007836	hsa-miR-509-3-5p	CLIP-seq
MIRT1007837	hsa-miR-509-5p	CLIP-seq
MIRT1007838	hsa-miR-604	CLIP-seq
MIRT1007839	hsa-miR-625	CLIP-seq
MIRT1007840	hsa-miR-647	CLIP-seq
MIRT1007841	hsa-miR-649	CLIP-seq
MIRT1007842	hsa-miR-656	CLIP-seq
MIRT1007843	hsa-miR-661	CLIP-seq
MIRT1007844	hsa-miR-766	CLIP-seq
MIRT1007845	hsa-miR-890	CLIP-seq
MIRT1007846	hsa-miR-940	CLIP-seq
MIRT1007790	hsa-miR-1273	CLIP-seq
MIRT1007792	hsa-miR-1827	CLIP-seq
MIRT1007797	hsa-miR-3613-3p	CLIP-seq
MIRT1007801	hsa-miR-371-5p	CLIP-seq
MIRT1007802	hsa-miR-371b-5p	CLIP-seq
MIRT1998613	hsa-miR-3926	CLIP-seq
MIRT1998614	hsa-miR-4266	CLIP-seq
MIRT1998615	hsa-miR-4422	CLIP-seq
MIRT1007808	hsa-miR-4432	CLIP-seq
MIRT1007809	hsa-miR-4433	CLIP-seq
MIRT1007810	hsa-miR-4459	CLIP-seq
MIRT1007813	hsa-miR-4486	CLIP-seq
MIRT1998616	hsa-miR-4509	CLIP-seq
MIRT1007817	hsa-miR-451b	CLIP-seq
MIRT1007820	hsa-miR-4649-5p	CLIP-seq
MIRT1998617	hsa-miR-4659a-3p	CLIP-seq
MIRT1998618	hsa-miR-4659b-3p	CLIP-seq
MIRT1998619	hsa-miR-4695-5p	CLIP-seq
MIRT1007822	hsa-miR-4696	CLIP-seq
MIRT1998620	hsa-miR-4744	CLIP-seq
MIRT1007831	hsa-miR-4768-3p	CLIP-seq
MIRT1998621	hsa-miR-4778-3p	CLIP-seq
MIRT1998622	hsa-miR-4779	CLIP-seq
MIRT1998623	hsa-miR-4786-5p	CLIP-seq
MIRT1007832	hsa-miR-4793-3p	CLIP-seq
MIRT1998624	hsa-miR-4799-5p	CLIP-seq
MIRT1998625	hsa-miR-483-3p	CLIP-seq
MIRT1998626	hsa-miR-486-5p	CLIP-seq
MIRT1007835	hsa-miR-508-5p	CLIP-seq
MIRT1998627	hsa-miR-548s	CLIP-seq
MIRT1998628	hsa-miR-651	CLIP-seq
MIRT1007843	hsa-miR-661	CLIP-seq
MIRT1007844	hsa-miR-766	CLIP-seq
MIRT1007846	hsa-miR-940	CLIP-seq
MIRT1007790	hsa-miR-1273	CLIP-seq
MIRT2232335	hsa-miR-2115	CLIP-seq
MIRT2232336	hsa-miR-3614-5p	CLIP-seq
MIRT1007800	hsa-miR-3689d	CLIP-seq
MIRT1007801	hsa-miR-371-5p	CLIP-seq
MIRT1007802	hsa-miR-371b-5p	CLIP-seq
MIRT1998613	hsa-miR-3926	CLIP-seq
MIRT2232337	hsa-miR-4252	CLIP-seq
MIRT1998614	hsa-miR-4266	CLIP-seq
MIRT2232338	hsa-miR-4305	CLIP-seq
MIRT2232339	hsa-miR-4318	CLIP-seq
MIRT1007809	hsa-miR-4433	CLIP-seq
MIRT1007810	hsa-miR-4459	CLIP-seq
MIRT2232340	hsa-miR-4484	CLIP-seq
MIRT1007813	hsa-miR-4486	CLIP-seq
MIRT1007817	hsa-miR-451b	CLIP-seq
MIRT2232341	hsa-miR-4640-5p	CLIP-seq
MIRT1007820	hsa-miR-4649-5p	CLIP-seq
MIRT1998619	hsa-miR-4695-5p	CLIP-seq
MIRT2232342	hsa-miR-4726-5p	CLIP-seq
MIRT1007831	hsa-miR-4768-3p	CLIP-seq
MIRT1998622	hsa-miR-4779	CLIP-seq
MIRT1998623	hsa-miR-4786-5p	CLIP-seq
MIRT1007832	hsa-miR-4793-3p	CLIP-seq
MIRT1998625	hsa-miR-483-3p	CLIP-seq
MIRT1998626	hsa-miR-486-5p	CLIP-seq
MIRT1007835	hsa-miR-508-5p	CLIP-seq
MIRT2232343	hsa-miR-516a-3p	CLIP-seq
MIRT1998627	hsa-miR-548s	CLIP-seq
MIRT1998628	hsa-miR-651	CLIP-seq
MIRT1007843	hsa-miR-661	CLIP-seq
MIRT2232344	hsa-miR-671-5p	CLIP-seq
MIRT1007844	hsa-miR-766	CLIP-seq
MIRT2232336	hsa-miR-3614-5p	CLIP-seq
MIRT2232337	hsa-miR-4252	CLIP-seq
MIRT2232341	hsa-miR-4640-5p	CLIP-seq
MIRT2232342	hsa-miR-4726-5p	CLIP-seq
MIRT1007831	hsa-miR-4768-3p	CLIP-seq
MIRT2232344	hsa-miR-671-5p	CLIP-seq
MIRT1007792	hsa-miR-1827	CLIP-seq
MIRT1998614	hsa-miR-4266	CLIP-seq
MIRT1998619	hsa-miR-4695-5p	CLIP-seq
MIRT1998622	hsa-miR-4779	CLIP-seq
MIRT1998625	hsa-miR-483-3p	CLIP-seq
MIRT1998626	hsa-miR-486-5p	CLIP-seq
MIRT1998628	hsa-miR-651	CLIP-seq
MIRT1007846	hsa-miR-940	CLIP-seq
MIRT1007792	hsa-miR-1827	CLIP-seq
MIRT1998614	hsa-miR-4266	CLIP-seq
MIRT1998619	hsa-miR-4695-5p	CLIP-seq
MIRT1998622	hsa-miR-4779	CLIP-seq
MIRT1998625	hsa-miR-483-3p	CLIP-seq
MIRT1998626	hsa-miR-486-5p	CLIP-seq
MIRT1998628	hsa-miR-651	CLIP-seq
MIRT2536054	hsa-miR-10a	CLIP-seq
MIRT2536055	hsa-miR-10b	CLIP-seq
MIRT1007789	hsa-miR-1264	CLIP-seq
MIRT1007790	hsa-miR-1273	CLIP-seq
MIRT1007792	hsa-miR-1827	CLIP-seq
MIRT2536056	hsa-miR-3145-5p	CLIP-seq
MIRT2536057	hsa-miR-3151	CLIP-seq
MIRT2536058	hsa-miR-3180	CLIP-seq
MIRT2536059	hsa-miR-3180-3p	CLIP-seq
MIRT2536060	hsa-miR-3196	CLIP-seq
MIRT1007797	hsa-miR-3613-3p	CLIP-seq
MIRT1007801	hsa-miR-371-5p	CLIP-seq
MIRT1007802	hsa-miR-371b-5p	CLIP-seq
MIRT1998614	hsa-miR-4266	CLIP-seq
MIRT1007808	hsa-miR-4432	CLIP-seq
MIRT1007813	hsa-miR-4486	CLIP-seq
MIRT1007816	hsa-miR-4514	CLIP-seq
MIRT1007817	hsa-miR-451b	CLIP-seq
MIRT1007820	hsa-miR-4649-5p	CLIP-seq
MIRT1007821	hsa-miR-4692	CLIP-seq
MIRT1998619	hsa-miR-4695-5p	CLIP-seq
MIRT1007822	hsa-miR-4696	CLIP-seq
MIRT1998622	hsa-miR-4779	CLIP-seq
MIRT1007832	hsa-miR-4793-3p	CLIP-seq
MIRT2536061	hsa-miR-4796-3p	CLIP-seq
MIRT1998625	hsa-miR-483-3p	CLIP-seq
MIRT1998626	hsa-miR-486-5p	CLIP-seq
MIRT1007835	hsa-miR-508-5p	CLIP-seq
MIRT2536062	hsa-miR-548ae	CLIP-seq
MIRT2536063	hsa-miR-548aj	CLIP-seq
MIRT2536064	hsa-miR-548am	CLIP-seq
MIRT2536065	hsa-miR-548c-3p	CLIP-seq
MIRT2536066	hsa-miR-548t	CLIP-seq
MIRT2536067	hsa-miR-548x	CLIP-seq
MIRT1998628	hsa-miR-651	CLIP-seq
MIRT1007843	hsa-miR-661	CLIP-seq
MIRT1007844	hsa-miR-766	CLIP-seq
MIRT1007846	hsa-miR-940	CLIP-seq
MIRT1007790	hsa-miR-1273	CLIP-seq
MIRT1007792	hsa-miR-1827	CLIP-seq
MIRT2536056	hsa-miR-3145-5p	CLIP-seq
MIRT2536057	hsa-miR-3151	CLIP-seq
MIRT2536058	hsa-miR-3180	CLIP-seq
MIRT2536059	hsa-miR-3180-3p	CLIP-seq
MIRT2536060	hsa-miR-3196	CLIP-seq
MIRT1007797	hsa-miR-3613-3p	CLIP-seq
MIRT1007801	hsa-miR-371-5p	CLIP-seq
MIRT1007802	hsa-miR-371b-5p	CLIP-seq
MIRT1998614	hsa-miR-4266	CLIP-seq
MIRT1007808	hsa-miR-4432	CLIP-seq
MIRT1007813	hsa-miR-4486	CLIP-seq
MIRT1007817	hsa-miR-451b	CLIP-seq
MIRT1007820	hsa-miR-4649-5p	CLIP-seq
MIRT1998619	hsa-miR-4695-5p	CLIP-seq
MIRT1007822	hsa-miR-4696	CLIP-seq
MIRT1998622	hsa-miR-4779	CLIP-seq
MIRT1007832	hsa-miR-4793-3p	CLIP-seq
MIRT2536061	hsa-miR-4796-3p	CLIP-seq
MIRT1998625	hsa-miR-483-3p	CLIP-seq
MIRT1998626	hsa-miR-486-5p	CLIP-seq
MIRT1007835	hsa-miR-508-5p	CLIP-seq
MIRT2536062	hsa-miR-548ae	CLIP-seq
MIRT2536063	hsa-miR-548aj	CLIP-seq
MIRT2536064	hsa-miR-548am	CLIP-seq
MIRT2536066	hsa-miR-548t	CLIP-seq
MIRT2536067	hsa-miR-548x	CLIP-seq
MIRT1998628	hsa-miR-651	CLIP-seq
MIRT1007843	hsa-miR-661	CLIP-seq
MIRT1007844	hsa-miR-766	CLIP-seq
MIRT1007846	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003149	Process	Membranous septum morphogenesis	IEA
GO:0003150	Process	Muscular septum morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	25417160, 27680706, 29748286
GO:0005737	Component	Cytoplasm	IDA	19038973
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	18929644
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007608	Process	Sensory perception of smell	IEA
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016055	Process	Wnt signaling pathway	IMP	29276006
GO:0017147	Function	Wnt-protein binding	IBA
GO:0017147	Function	Wnt-protein binding	NAS	24431302
GO:0030165	Function	PDZ domain binding	IEA
GO:0030165	Function	PDZ domain binding	IPI	19388021
GO:0030182	Process	Neuron differentiation	ISS
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0035567	Process	Non-canonical Wnt signaling pathway	IBA
GO:0042813	Function	Wnt receptor activity	IBA
GO:0042813	Function	Wnt receptor activity	IDA	28733458
GO:0042813	Function	Wnt receptor activity	IEA
GO:0042813	Function	Wnt receptor activity	NAS	24431302
GO:0045446	Process	Endothelial cell differentiation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	18215320, 18929644
GO:0060022	Process	Hard palate development	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IBA
GO:0060070	Process	Canonical Wnt signaling pathway	IDA	18215320, 18929644, 20802536, 28733458
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	NAS	24431302
GO:0060119	Process	Inner ear receptor cell development	IEA
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0090103	Process	Cochlea morphogenesis	IEA

Other IDs

• MIM: 600667
• HGNC: 4040
• e!Ensembl: ENSG00000180340

Protein

• UniProt ID: Q14332
• Protein name: Frizzled-2 (Fz-2) (hFz2) (FzE2)
• Protein function: Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activat
• PDB: 6C0B, 7N95, 7N97, 7N9S, 7X8P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01392	Fz	39 → 146	Fz domain	Domain
  PF01534	Frizzled	235 → 555	Frizzled/Smoothened family membrane region	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. In the adult, mainly found in heart, placenta, skeletal muscle, lung, kidney, pancreas, prostate, testis, ovary and colon. In the fetus, expressed in brain, lung and kidney. Low levels in fetal liver.
• Sequence:

  MRPRSALPRLLLPLLLLPAAGPAQFHGEKGISIPDHGFCQPISIPLCTDIAYNQTIMPNL
  LGHTNQEDAGLEVHQFYPLVKVQCSPELRFFLCSMYAPVCTVLEQAIPPCRSICERARQG
  CEALMNKFGFQWPERLRCEHFPRHGAEQICVGQNHSEDGAPALLTTAPPPGLQPGAGGTP
  GGPGGGGAPPRYATLEHPFHCPRVLKVPSYLSYKFLGERDCAAPCEPARPDGSMFFSQEE
  TRFARLWILTWSVLCCASTFFTVTTYLVDMQRFRYPERPIIFLSGCYTMVSVAYIAGFVL
  QERVVCNERFSEDGYRTVVQGTKKEGCTILFMMLYFFSMASSIWWVILSLTWFLAAGMKW
  GHEAIEANSQYFHLAAWAVPAVKTITILAMGQIDGDLLSGVCFVGLNSLDPLRGFVLAPL
  FVYLFIGTSFLLAGFVSLFRIRTIMKHDGTKTEKLERLMVRIGVFSVLYTVPATIVIACY
  FYEQAFREHWERSWVSQHCKSLAIPCPAHYTPRMSPDFTVYMIKYLMTLIVGITSGFWIW
  SGKTLHSWRKFYTRLTNSRHGETTV

• Sequence length: 565

Pathways

KEGG:

mTOR signaling pathway
Wnt signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Melanogenesis
Cushing syndrome
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Human papillomavirus infection
Pathways in cancer
Proteoglycans in cancer
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer

Reactome:

Ca2+ pathway
Asymmetric localization of PCP proteins
Disassembly of the destruction complex and recruitment of AXIN to the membrane
WNT5A-dependent internalization of FZD2, FZD5 and ROR2

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
Autosomal dominant omodysplasia	Likely pathogenic; Pathogenic	rs1555657073, rs1568105666	RCV004698842 RCV000754771	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant Robinow syndrome 1	Likely pathogenic; Pathogenic	rs1223920489, rs1568105666, rs2144572390	RCV001353073 RCV001353074 RCV001353075	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant Robinow syndrome 2	Likely pathogenic; Pathogenic	rs1223920489, rs1555657074, rs1568105666	RCV000577904 RCV000577879 RCV000989930	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant Robinow syndrome 3	Likely pathogenic; Pathogenic	rs1555657073	RCV000577887	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature	Likely pathogenic	rs1568105562	RCV000736149	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL DOMINANT ROBINOW SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FZD2-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoconus	Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OMODYSPLASIA 2	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	25695658		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	11836553		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	23826406		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	30924074	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	32141827	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	20376066	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10688908	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant omodysplasia	Omodysplasia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant Robinow syndrome	Robinow Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Avascular necrosis of the capital femoral epiphysis	Avascular Necrosis Of The Capital Femoral Epiphysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31907106	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32755597	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33804101	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33485313	Associate	★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31524268		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	21188121		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24504536	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	29383834		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	21525063		★☆☆☆☆ Found in Text Mining only
Congenital dislocation of radial head	Dislocated radial head	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital euryblepharon	Congenital Euryblepharon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	BEFREE	14643002		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental absence of tooth	Anodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epispadias	Epispadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	24022664		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	24022664		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	24022664	Stimulate	★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	12909487		★☆☆☆☆ Found in Text Mining only
Fingernail dysplasia	Fingernail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23748645		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	33857857	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	38167429	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23748645		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	21205070, 34657400	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29387236		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hernia, Femoral	Hernia, Femoral	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	32141827	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	18478089		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	18478089	Stimulate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	12909487	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28350091, 30677195		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	18024791	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	24022664		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28030815		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25586465		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	31595151		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21850537, 26398330, 30677195		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	21188121		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	21850537		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19946729	Associate	★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	28637665		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25695658, 27373314, 30677195, 31595151		★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Omodysplasia 2	Omodysplasia	UNIPROT_DG	25759469, 29230162, 29383834, 30455931		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omodysplasia 2	Omodysplasia	GENOMICS_ENGLAND_DG	25759469		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omodysplasia 2	Omodysplasia	ORPHANET_DG	25759469		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omodysplasia 2	Omodysplasia	Pubtator	25759469	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omodysplasia 2	Omodysplasia	BEFREE	29383834		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omodysplasia 2	Omodysplasia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	29383834		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33618667	Stimulate	★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pentalogy of Cantrell	Pentalogy Of Cantrell	BEFREE	21525063		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	28637665		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28030815		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28030815, 35930737	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	26202350		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Robinow Syndrome	Robinow Syndrome	GENOMICS_ENGLAND_DG	25759469		★☆☆☆☆ Found in Text Mining only
Robinow Syndrome	Robinow Syndrome	ORPHANET_DG	29276006		★☆☆☆☆ Found in Text Mining only
Robinow Syndrome	Robinow syndrome	Pubtator	29276006	Associate	★☆☆☆☆ Found in Text Mining only
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2	Robinow Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3	Robinow Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma Diffuse	Scleroderma	Pubtator	22328118	Stimulate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	29383834		★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31595151, 35886008	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	26398330, 31595151		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25586465		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	31595151	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	12909487		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	19696931	Associate	★☆☆☆☆ Found in Text Mining only