Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5727
Gene name Gene Name - the full gene name approved by the HGNC.	Patched 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PTCH1
Synonyms (NCBI Gene) Gene synonyms aliases	BCNS, BCNS1, NBCCS, PTC, PTC1, PTCH, SLC65B1
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q22.32
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligan

Show/Hide all(188)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138911275	G>A	Pathogenic, likely-benign	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs142274954	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, benign	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs143091773	T>-,TT	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs143494325	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Intron variant, genic upstream transcript variant, missense variant, upstream transcript variant, non coding transcript variant, coding sequence variant
rs145867500	A>C,G	Likely-benign, pathogenic	Stop gained, genic downstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs147067171	T>C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, benign	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs149691476	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Genic downstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs199476090	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs199476091	C>T	Likely-benign, pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs199476093	A>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs267606984	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs368417828	G>A	Likely-benign, likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs368869806	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Splice acceptor variant
rs369882883	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs372027952	G>A	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs386833412	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs587776689	T>A,G	Likely-benign, pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, synonymous variant, coding sequence variant
rs587778629	C>T	Uncertain-significance, not-provided, likely-pathogenic, likely-benign	Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs747234651	G>A,T	Likely-benign, pathogenic	Genic downstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs751977093	CCC>-,CC,CCCC	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Inframe deletion, intron variant, genic upstream transcript variant, frameshift variant, upstream transcript variant, coding sequence variant, non coding transcript variant
rs752765582	C>-	Likely-pathogenic	Genic upstream transcript variant, initiator codon variant, 5 prime UTR variant, frameshift variant
rs767273237	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs772407797	G>A,C	Uncertain-significance, likely-pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs773564643	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs776154605	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs779791579	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant, intron variant
rs780434261	T>A,C	Uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, stop gained
rs781768965	C>A,G	Pathogenic	Upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant, stop gained, intron variant
rs786204056	A>G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs794727242	C>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, stop gained
rs863224442	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs863224443	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs863224444	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs863224484	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs863224485	GGACCCAT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs863224486	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs863224487	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs863225054	T>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs863225055	AAAAGGGATTC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs864622212	AG>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, frameshift variant
rs864622293	C>G	Likely-pathogenic, pathogenic	Splice donor variant, intron variant, genic downstream transcript variant
rs864622374	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs864622583	AACTTGCCGCAGTTTTTTTGAATGTAACAACCCAG>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, frameshift variant
rs878853846	T>C	Uncertain-significance, likely-pathogenic	Intron variant, genic downstream transcript variant
rs878853847	C>-,CC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs878853849	T>C,G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs878853856	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs886039540	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs886039678	CCGATGTACTGCTCCCAGAAGAGGAAGG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs886041943	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1057518400	C>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057520590	C>G	Pathogenic	Splice acceptor variant
rs1060502264	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1060502268	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs1060502271	T>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1060502273	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1060502277	C>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1060502278	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained
rs1060502280	TA>-	Pathogenic	5 prime UTR variant, initiator codon variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1060502281	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1060502285	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1060502286	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1060502287	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1060502295	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1060502297	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1060502298	A>G,T	Pathogenic, likely-benign	Coding sequence variant, genic downstream transcript variant, stop gained, synonymous variant, non coding transcript variant
rs1060502301	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained
rs1064793474	->G	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1064793921	T>C,G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1064793922	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs1064793978	T>C	Pathogenic	Genic downstream transcript variant, intron variant, splice acceptor variant
rs1064793991	GCATGTAGTC>ACTA	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant, inframe indel
rs1064794117	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1064794260	G>A,C,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, stop gained, synonymous variant, non coding transcript variant
rs1064795637	CACT>-	Likely-pathogenic	Intron variant, coding sequence variant, splice donor variant, genic downstream transcript variant, non coding transcript variant
rs1064796259	->AT	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1085307511	C>G,T	Likely-pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, synonymous variant, non coding transcript variant
rs1085307752	C>A,T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1131690967	C>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant, intron variant, upstream transcript variant
rs1131690968	G>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs1131690969	CTTT>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1131690970	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained
rs1131690971	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1131690972	->AGAT	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1131690973	GGGGCGGTCCA>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1131690974	C>T	Pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant
rs1131690976	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1131690978	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1131690979	A>G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1131690980	GAAG>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained
rs1131690981	TTAGGGGTCT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1131690984	T>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1131690985	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs1131690986	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs1131690987	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1131690989	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs1131690990	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs1131690993	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1131690994	C>G	Pathogenic	Synonymous variant, coding sequence variant, splice donor variant
rs1131690995	C>T	Pathogenic	Splice donor variant
rs1131690997	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1131690999	A>G	Likely-pathogenic	Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1131691001	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, splice acceptor variant
rs1131691002	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained
rs1333346461	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained, non coding transcript variant
rs1344258746	C>A,T	Pathogenic	Non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant, missense variant
rs1356231878	A>C,G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant, synonymous variant
rs1403732379	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1432645175	A>C,G	Pathogenic	Stop gained, synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1472299295	C>A,T	Uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant, stop gained
rs1554689667	ATAT>GGA	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554690411	GA>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1554690484	->A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554691354	->A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554691359	A>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1554691423	->TCTAC	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554691658	C>GGGTCCACAACATCT	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554697839	AACGCCCGCAGAG>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554697928	->T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554698258	->T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554698260	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1554698531	A>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant
rs1554698582	ACCAGCAGGACGCCA>-	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, inframe deletion, intron variant
rs1554698587	ACGCCAGCCAGCCCCACGG>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant
rs1554698613	TTAGACAGGCATAGGCGAGCTGCAAGCAGAACAATGG>-	Pathogenic	Splice acceptor variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant, intron variant
rs1554698800	->T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554699216	->A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554699612	CAGTGCATAT>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554699837	->T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554699964	T>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554699969	GATA>ATC	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554700010	C>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1554700574	CAGGAGG>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, splice donor variant
rs1554700630	G>A	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1554700647	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1554700720	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554700742	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554702032	TGGACA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, inframe deletion
rs1554702186	G>A	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained
rs1554708626	CCACAGCTCCTCCACGT>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554708751	T>-,TT	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554708753	G>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained
rs1554708760	AA>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554708771	CT>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1554708787	C>T	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained
rs1554708795	GGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGA>-	Pathogenic	Splice acceptor variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant
rs1564009755	C>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1564050178	AGCC>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant
rs1564050405	->ATAG	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant
rs1564051237	GAGT>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1564051834	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1564053040	CCTCCAGG>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1564055259	G>C	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1564055606	G>C	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1564055612	G>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1564055868	C>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1564058147	->G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1564058222	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1564063386	->A	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1564088181	C>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1587692888	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs1587693508	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs1587693544	->T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs1587693623	GTCTCTGA>-	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs1588517196	A>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1588519463	ATGGTGAGGATCGCCAGCACAGCAAAGAAATACCTG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant, splice acceptor variant
rs1588528637	C>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs1588535416	->A	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1588535437	->AC	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1588535471	A>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs1588535611	->C	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1588539525	C>T	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1588539623	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1588596702	->T	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1588600929	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant, frameshift variant
rs1588601051	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant, frameshift variant
rs1588602262	C>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1588602354	->T	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1588603014	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1588605348	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1588605485	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1588605746	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1588608715	CCATTCA>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1588608794	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1588609559	GTACTCA>AGCG	Likely-pathogenic	Genic downstream transcript variant, intron variant, splice donor variant
rs1588609575	C>T	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1588610324	T>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1588622713	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, initiator codon variant, non coding transcript variant

Show/Hide all(418)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006293	hsa-miR-212-3p	Luciferase reporter assay, qRT-PCR, Western blot	22357618
MIRT006293	hsa-miR-212-3p	Luciferase reporter assay, qRT-PCR, Western blot	22357618
MIRT006293	hsa-miR-212-3p	Luciferase reporter assay, qRT-PCR, Western blot	22357618
MIRT006293	hsa-miR-212-3p	Luciferase reporter assay, qRT-PCR, Western blot	22357618
MIRT006293	hsa-miR-212-3p	Luciferase reporter assay, qRT-PCR, Western blot	22357618
MIRT006293	hsa-miR-212-3p	Luciferase reporter assay, qRT-PCR, Western blot	22357618
MIRT006293	hsa-miR-212-3p	Luciferase reporter assay	24961235
MIRT006293	hsa-miR-212-3p	Luciferase reporter assay	24961235
MIRT438750	hsa-miR-424-5p	Luciferase reporter assay	24967963
MIRT438750	hsa-miR-424-5p	Luciferase reporter assay	24967963
MIRT006293	hsa-miR-212-3p	Luciferase reporter assay	24961235
MIRT006293	hsa-miR-212-3p	Luciferase reporter assay	24961235
MIRT438750	hsa-miR-424-5p	Luciferase reporter assay	24967963
MIRT438750	hsa-miR-424-5p	Luciferase reporter assay	24967963
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT566237	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT566236	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT439879	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439879	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT609747	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT609747	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT609746	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT609746	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT609743	hsa-miR-4530	HITS-CLIP	27418678
MIRT609743	hsa-miR-4530	HITS-CLIP	27418678
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	27418678
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	27418678
MIRT613560	hsa-miR-8485	HITS-CLIP	27418678
MIRT613560	hsa-miR-8485	HITS-CLIP	27418678
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT622571	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT613560	hsa-miR-8485	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT609747	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609746	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609745	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT609744	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT609743	hsa-miR-4530	HITS-CLIP	23824327
MIRT566237	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT566236	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT1272062	hsa-miR-101	CLIP-seq
MIRT1272063	hsa-miR-128	CLIP-seq
MIRT1272064	hsa-miR-134	CLIP-seq
MIRT1272065	hsa-miR-144	CLIP-seq
MIRT1272066	hsa-miR-203	CLIP-seq
MIRT1272067	hsa-miR-204	CLIP-seq
MIRT1272068	hsa-miR-2054	CLIP-seq
MIRT1272069	hsa-miR-211	CLIP-seq
MIRT1272070	hsa-miR-27a	CLIP-seq
MIRT1272071	hsa-miR-27b	CLIP-seq
MIRT1272072	hsa-miR-3118	CLIP-seq
MIRT1272073	hsa-miR-3121-5p	CLIP-seq
MIRT1272074	hsa-miR-3129-3p	CLIP-seq
MIRT1272075	hsa-miR-3164	CLIP-seq
MIRT1272076	hsa-miR-329	CLIP-seq
MIRT1272077	hsa-miR-3545-3p	CLIP-seq
MIRT1272078	hsa-miR-425	CLIP-seq
MIRT1272079	hsa-miR-4287	CLIP-seq
MIRT1272080	hsa-miR-4469	CLIP-seq
MIRT1272081	hsa-miR-4501	CLIP-seq
MIRT1272082	hsa-miR-4685-3p	CLIP-seq
MIRT1272083	hsa-miR-4713-5p	CLIP-seq
MIRT1272084	hsa-miR-4776-3p	CLIP-seq
MIRT1272085	hsa-miR-4802-3p	CLIP-seq
MIRT1272086	hsa-miR-582-5p	CLIP-seq
MIRT1272087	hsa-miR-626	CLIP-seq
MIRT1272088	hsa-miR-642b	CLIP-seq
MIRT1272089	hsa-miR-802	CLIP-seq
MIRT1272062	hsa-miR-101	CLIP-seq
MIRT1272090	hsa-miR-1208	CLIP-seq
MIRT1272063	hsa-miR-128	CLIP-seq
MIRT1272064	hsa-miR-134	CLIP-seq
MIRT1272091	hsa-miR-141	CLIP-seq
MIRT1272065	hsa-miR-144	CLIP-seq
MIRT1272092	hsa-miR-200a	CLIP-seq
MIRT1272067	hsa-miR-204	CLIP-seq
MIRT1272093	hsa-miR-208a	CLIP-seq
MIRT1272094	hsa-miR-208b	CLIP-seq
MIRT1272069	hsa-miR-211	CLIP-seq
MIRT1272070	hsa-miR-27a	CLIP-seq
MIRT1272071	hsa-miR-27b	CLIP-seq
MIRT1272072	hsa-miR-3118	CLIP-seq
MIRT1272073	hsa-miR-3121-5p	CLIP-seq
MIRT1272075	hsa-miR-3164	CLIP-seq
MIRT1272076	hsa-miR-329	CLIP-seq
MIRT1272095	hsa-miR-342-3p	CLIP-seq
MIRT1272096	hsa-miR-365	CLIP-seq
MIRT1272097	hsa-miR-3658	CLIP-seq
MIRT1272098	hsa-miR-377	CLIP-seq
MIRT1272079	hsa-miR-4287	CLIP-seq
MIRT1272099	hsa-miR-4432	CLIP-seq
MIRT1272080	hsa-miR-4469	CLIP-seq
MIRT1272081	hsa-miR-4501	CLIP-seq
MIRT1272100	hsa-miR-4522	CLIP-seq
MIRT1272082	hsa-miR-4685-3p	CLIP-seq
MIRT1272083	hsa-miR-4713-5p	CLIP-seq
MIRT1272101	hsa-miR-4728-3p	CLIP-seq
MIRT1272102	hsa-miR-4763-5p	CLIP-seq
MIRT1272084	hsa-miR-4776-3p	CLIP-seq
MIRT1272085	hsa-miR-4802-3p	CLIP-seq
MIRT1272103	hsa-miR-499-5p	CLIP-seq
MIRT1272104	hsa-miR-3074-3p	CLIP-seq
MIRT1272076	hsa-miR-329	CLIP-seq
MIRT1272105	hsa-miR-545	CLIP-seq
MIRT1272106	hsa-miR-561	CLIP-seq
MIRT1272062	hsa-miR-101	CLIP-seq
MIRT1272063	hsa-miR-128	CLIP-seq
MIRT1272107	hsa-miR-1283	CLIP-seq
MIRT1272064	hsa-miR-134	CLIP-seq
MIRT1272065	hsa-miR-144	CLIP-seq
MIRT1272067	hsa-miR-204	CLIP-seq
MIRT1272069	hsa-miR-211	CLIP-seq
MIRT1272070	hsa-miR-27a	CLIP-seq
MIRT1272071	hsa-miR-27b	CLIP-seq
MIRT1272072	hsa-miR-3118	CLIP-seq
MIRT1272073	hsa-miR-3121-5p	CLIP-seq
MIRT1272108	hsa-miR-3163	CLIP-seq
MIRT1272075	hsa-miR-3164	CLIP-seq
MIRT1272109	hsa-miR-323b-3p	CLIP-seq
MIRT1272076	hsa-miR-329	CLIP-seq
MIRT1272110	hsa-miR-409-3p	CLIP-seq
MIRT1272111	hsa-miR-4277	CLIP-seq
MIRT1272079	hsa-miR-4287	CLIP-seq
MIRT1272080	hsa-miR-4469	CLIP-seq
MIRT1272081	hsa-miR-4501	CLIP-seq
MIRT1272112	hsa-miR-4668-3p	CLIP-seq
MIRT1272082	hsa-miR-4685-3p	CLIP-seq
MIRT1272113	hsa-miR-4704-5p	CLIP-seq
MIRT1272083	hsa-miR-4713-5p	CLIP-seq
MIRT1272084	hsa-miR-4776-3p	CLIP-seq
MIRT1272085	hsa-miR-4802-3p	CLIP-seq
MIRT1272114	hsa-miR-605	CLIP-seq
MIRT1272115	hsa-miR-1226	CLIP-seq
MIRT1272116	hsa-miR-125a-3p	CLIP-seq
MIRT1272117	hsa-miR-3161	CLIP-seq
MIRT1272118	hsa-miR-3194-5p	CLIP-seq
MIRT1272076	hsa-miR-329	CLIP-seq
MIRT1272119	hsa-miR-4311	CLIP-seq
MIRT1272120	hsa-miR-4506	CLIP-seq
MIRT1272121	hsa-miR-4640-5p	CLIP-seq
MIRT1272122	hsa-miR-4687-5p	CLIP-seq
MIRT1272123	hsa-miR-4726-5p	CLIP-seq
MIRT1272124	hsa-miR-4733-3p	CLIP-seq
MIRT1272125	hsa-miR-4735-5p	CLIP-seq
MIRT1272126	hsa-miR-539	CLIP-seq
MIRT1272127	hsa-miR-576-5p	CLIP-seq
MIRT1272128	hsa-miR-634	CLIP-seq
MIRT1920838	hsa-miR-1246	CLIP-seq
MIRT1920839	hsa-miR-4320	CLIP-seq
MIRT1920838	hsa-miR-1246	CLIP-seq
MIRT1920839	hsa-miR-4320	CLIP-seq
MIRT1272066	hsa-miR-203	CLIP-seq
MIRT1272074	hsa-miR-3129-3p	CLIP-seq
MIRT2080005	hsa-miR-3145-5p	CLIP-seq
MIRT2080006	hsa-miR-3159	CLIP-seq
MIRT1272077	hsa-miR-3545-3p	CLIP-seq
MIRT2080007	hsa-miR-3591-3p	CLIP-seq
MIRT1272111	hsa-miR-4277	CLIP-seq
MIRT2080008	hsa-miR-4464	CLIP-seq
MIRT1272083	hsa-miR-4713-5p	CLIP-seq
MIRT1272101	hsa-miR-4728-3p	CLIP-seq
MIRT1272124	hsa-miR-4733-3p	CLIP-seq
MIRT2080009	hsa-miR-4748	CLIP-seq
MIRT2080010	hsa-miR-4757-5p	CLIP-seq
MIRT2080011	hsa-miR-4761-3p	CLIP-seq
MIRT2080012	hsa-miR-4764-3p	CLIP-seq
MIRT2080013	hsa-miR-488	CLIP-seq
MIRT2080014	hsa-miR-548g	CLIP-seq
MIRT2080015	hsa-miR-548n	CLIP-seq
MIRT1272106	hsa-miR-561	CLIP-seq
MIRT2080016	hsa-miR-587	CLIP-seq
MIRT1272089	hsa-miR-802	CLIP-seq
MIRT2080017	hsa-miR-3160-5p	CLIP-seq
MIRT2080018	hsa-miR-922	CLIP-seq
MIRT2306265	hsa-miR-15a	CLIP-seq
MIRT2306266	hsa-miR-15b	CLIP-seq
MIRT2306267	hsa-miR-16	CLIP-seq
MIRT2306268	hsa-miR-195	CLIP-seq
MIRT2306269	hsa-miR-424	CLIP-seq
MIRT2306270	hsa-miR-497	CLIP-seq
MIRT1272089	hsa-miR-802	CLIP-seq
MIRT2439635	hsa-miR-1236	CLIP-seq
MIRT2439636	hsa-miR-1299	CLIP-seq
MIRT2439637	hsa-miR-2117	CLIP-seq
MIRT2080005	hsa-miR-3145-5p	CLIP-seq
MIRT1272098	hsa-miR-377	CLIP-seq
MIRT2439638	hsa-miR-3978	CLIP-seq
MIRT1272111	hsa-miR-4277	CLIP-seq
MIRT2439639	hsa-miR-4447	CLIP-seq
MIRT2439640	hsa-miR-4472	CLIP-seq
MIRT2439641	hsa-miR-4487	CLIP-seq
MIRT2439642	hsa-miR-4753-3p	CLIP-seq
MIRT2080011	hsa-miR-4761-3p	CLIP-seq
MIRT2080012	hsa-miR-4764-3p	CLIP-seq
MIRT2439643	hsa-miR-4782-5p	CLIP-seq
MIRT2439644	hsa-miR-498	CLIP-seq
MIRT2439645	hsa-miR-516b	CLIP-seq
MIRT2439646	hsa-miR-583	CLIP-seq
MIRT2080016	hsa-miR-587	CLIP-seq
MIRT2439647	hsa-miR-875-3p	CLIP-seq
MIRT2080011	hsa-miR-4761-3p	CLIP-seq
MIRT2080012	hsa-miR-4764-3p	CLIP-seq
MIRT2080016	hsa-miR-587	CLIP-seq
MIRT2457392	hsa-miR-3184	CLIP-seq
MIRT2457393	hsa-miR-3925-5p	CLIP-seq
MIRT2457394	hsa-miR-423-5p	CLIP-seq
MIRT2457395	hsa-miR-4688	CLIP-seq
MIRT2457396	hsa-miR-548p	CLIP-seq
MIRT2457397	hsa-miR-589	CLIP-seq
MIRT2457393	hsa-miR-3925-5p	CLIP-seq
MIRT2457396	hsa-miR-548p	CLIP-seq
MIRT2457397	hsa-miR-589	CLIP-seq

Show/Hide all(108)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	16229683
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001709	Process	Cell fate determination	IEA
GO:0001841	Process	Neural tube formation	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0005113	Function	Patched binding	IEA
GO:0005119	Function	Smoothened binding	IBA
GO:0005119	Function	Smoothened binding	IEA
GO:0005119	Function	Smoothened binding	IPI	9811851, 11278759
GO:0005515	Function	Protein binding	IPI	19502428, 19561609, 21802063, 25283809, 29954986, 29995851, 30139912, 32296183, 32814053
GO:0005794	Component	Golgi apparatus	IDA	11278759
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11278759, 12635140
GO:0005886	Component	Plasma membrane	IEA
GO:0005901	Component	Caveola	IDA	11278759
GO:0005929	Component	Cilium	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0007346	Process	Regulation of mitotic cell cycle	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	ISS
GO:0008158	Function	Hedgehog receptor activity	IBA
GO:0008158	Function	Hedgehog receptor activity	IEA
GO:0008201	Function	Heparin binding	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008544	Process	Epidermis development	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	ISS
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009887	Process	Animal organ morphogenesis	ISS
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	ISS
GO:0009957	Process	Epidermal cell fate specification	IEA
GO:0010157	Process	Response to chlorate	IEA
GO:0010839	Process	Negative regulation of keratinocyte proliferation	IEA
GO:0010875	Process	Positive regulation of cholesterol efflux	IDA	21931618
GO:0015485	Function	Cholesterol binding	IDA	21931618
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IEA
GO:0016485	Process	Protein processing	ISS
GO:0021522	Process	Spinal cord motor neuron differentiation	IEA
GO:0021532	Process	Neural tube patterning	IMP	8681379
GO:0021904	Process	Dorsal/ventral neural tube patterning	IEA
GO:0021997	Process	Neural plate axis specification	IEA
GO:0021997	Process	Neural plate axis specification	ISS
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030326	Process	Embryonic limb morphogenesis	ISS
GO:0030332	Function	Cyclin binding	IEA
GO:0030332	Function	Cyclin binding	IPI	11331587
GO:0030496	Component	Midbody	IEA
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0030850	Process	Prostate gland development	IEA
GO:0030879	Process	Mammary gland development	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0032526	Process	Response to retinoic acid	IEA
GO:0032880	Process	Regulation of protein localization	IEA
GO:0035108	Process	Limb morphogenesis	IMP	8681379
GO:0035137	Process	Hindlimb morphogenesis	IEA
GO:0040008	Process	Regulation of growth	IEA
GO:0040015	Process	Negative regulation of multicellular organism growth	IEA
GO:0040015	Process	Negative regulation of multicellular organism growth	ISS
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0043279	Process	Response to alkaloid	IEA
GO:0043616	Process	Keratinocyte proliferation	IEA
GO:0044294	Component	Dendritic growth cone	IEA
GO:0044295	Component	Axonal growth cone	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045177	Component	Apical part of cell	IDA	17850284
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045606	Process	Positive regulation of epidermal cell differentiation	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	IMP	16229683
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IBA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IEA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	ISS
GO:0045879	Process	Negative regulation of smoothened signaling pathway	TAS	11001584
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	11278759
GO:0048568	Process	Embryonic organ development	IEA
GO:0048745	Process	Smooth muscle tissue development	IEP	17850284
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0051782	Process	Negative regulation of cell division	IEA
GO:0060037	Process	Pharyngeal system development	IMP	8681379, 8981943
GO:0060170	Component	Ciliary membrane	TAS
GO:0060603	Process	Mammary gland duct morphogenesis	IEA
GO:0060644	Process	Mammary gland epithelial cell differentiation	IEA
GO:0061005	Process	Cell differentiation involved in kidney development	IEA
GO:0061053	Process	Somite development	IEA
GO:0061053	Process	Somite development	IMP	8681379
GO:0071397	Process	Cellular response to cholesterol	IEA
GO:0071397	Process	Cellular response to cholesterol	IMP	11278759
GO:0071397	Process	Cellular response to cholesterol	ISS
GO:0071679	Process	Commissural neuron axon guidance	IEA
GO:0072089	Process	Stem cell proliferation	IEA
GO:0072203	Process	Cell proliferation involved in metanephros development	IEA
GO:0072205	Process	Metanephric collecting duct development	IEP	17850284
GO:0072659	Process	Protein localization to plasma membrane	IDA	11278759
GO:0097108	Function	Hedgehog family protein binding	IBA
GO:0097108	Function	Hedgehog family protein binding	IEA
GO:0097108	Function	Hedgehog family protein binding	IPI	9811851
GO:0097421	Process	Liver regeneration	IEA
GO:2000647	Process	Negative regulation of stem cell proliferation	IEA

MIM	HGNC	e!Ensembl
601309	9585	ENSG00000185920

Protein

UniProt ID

Q13635

Protein name

Protein patched homolog 1 (PTC) (PTC1)

Protein function

Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of

PDB

6DMB , 6DMO , 6DMY , 6E1H , 6N7G , 6N7H , 6N7K , 6OEU , 6OEV , 6RMG , 6RTW , 6RTX , 6RTY , 6RVC , 6RVD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02460	Patched	358 → 875	Patched family	Family
PF02460	Patched	966 → 1180	Patched family	Family

Tissue specificity

TISSUE SPECIFICITY: In the adult, expressed in brain, lung, liver, heart, placenta, skeletal muscle, pancreas and kidney. Expressed in tumor cells but not in normal skin.

Sequence

MASAGNAAEPQDRGGGGSGCIGAPGRPAGGGRRRRTGGLRRAAAPDRDYLHRPSYCDAAF
ALEQISKGKATGRKAPLWLRAKFQRLLFKLGCYIQKNCGKFLVVGLLIFGAFAVGLKAAN
LETNVEELWVEVGGRVSRELNYTRQKIGEEAMFNPQLMIQTPKEEGANVLTTEALLQHLD
SALQASRVHVYMYNRQWKLEHLCYKSGELITETGYMDQIIEYLYPCLIITPLDCFWEGAK
LQSGTAYLLGKPPLRWTNFDPLEFLEELKKINYQVDSWEEMLNKAEVGHGYMDRPCLNPA
DPDCPATAPNKNSTKPLDMALVLNGGCHGLSRKYMHWQEELIVGGTVKNSTGKLVSAHAL
QTMFQLMTPKQMYEHFKGYEYVSHINWNEDKAAAILEAWQRTYVEVVHQSVAQNSTQKVL
SFTTTTLDDILKSFSDVSVIRVASGYLLMLAYACLTMLRWDCSKSQGAVGLAGVLLVALS
VAAGLGLCSLIGISFNAATTQVLPFLALGVGVDDVFLLAHAFSETGQNKRIPFEDRTGEC
LKRTGASVALTSISNVTAFFMAALIPIPALRAFSLQAAVVVVFNFAMVLLIFPAILSMDL
YRREDRRLDIFCCFTSPCVSRVIQVEPQAYTDTHDNTRYSPPPPYSSHSFAHETQITMQS
TVQLRTEYDPHTHVYYTTAEPRSEISVQPVTVTQDTLSCQSPESTSSTRDLLSQFSDSSL
HCLEPPCTKWTLSSFAEKHYAPFLLKPKAKVVVIFLFLGLLGVSLYGTTRVRDGLDLTDI
VPRETREYDFIAAQFKYFSFYNMYIVTQKADYPNIQHLLYDLHRSFSNVKYVMLEENKQL
PKMWLHYFRDWLQGLQDAFDSDWETGKIMPNNYKNGSDDGVLAYKLLVQTGSRDKPIDIS
QLTKQRLVDADGIINPSAFYIYLTAWVSNDPVAYAASQANIRPHRPEWVHDKADYMPETR
LRIPAAEPIEYAQFPFYLNGLRDTSDFVEAIEKVRTICSNYTSLGLSSYPNGYPFLFWEQ
YIGLRHWLLLFISVVLACTFLVCAVFLLNPWTAGIIVMVLALMTVELFGMMGLIGIKLSA
VPVVILIASVGIGVEFTVHVALAFLTAIGDKNRRAVLALEHMFAPVLDGAVSTLLGVLML
AGSEFDFIVRYFFAVLAILTILGVLNGLVLLPVLLSFFGPYPEVSPANGLNRLPTPSPEP
PPSVVRFAMPPGHTHSGSDSSDSEYSSQTTVSGLSEELRHYEAQQGAGGPAHQVIVEATE
NPVFAHSTVVHPESRHHPPSNPRQQPHLDSGSLPPGRQGQQPRRDPPREGLWPPPYRPRR
DAFEISTEGHSGPSNRARWGPRGARSHNPRNPASTAMGSSVPGYCQPITTVTASASVTVA
VHPPPVPGPGRNPRGGLCPGYPETDHGLFEDPHVPFHVRCERRDSKVEVIELQDVECEER
PRGSSSN

Sequence length

1447

Interactions

View interactions

	KEGG		Reactome
	cAMP signaling pathway Hedgehog signaling pathway Axon guidance Pathways in cancer Proteoglycans in cancer Basal cell carcinoma		Hedgehog 'off' state Ligand-receptor interactions Hedgehog 'on' state Activation of SMO

Show/Hide Causal Diseases (8)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia-microphthalmia syndrome	rs869025270	N/A
Basal Cell Neoplasm	Basal cell nevus syndrome 1	rs2118041703, rs1064793921, rs2136689212, rs878853849, rs1588568813, rs1554695110, rs2118336503, rs1588605348, rs2117956624, rs1587692888, rs2118419579, rs267606984, rs2118365442	N/A
Carcinoma	Basal cell carcinoma, susceptibility to, 1	rs1564055259	N/A
Congenital Hydrocephalus	congenital hydrocephalus	rs1588574984, rs1588622713	N/A
Gorlin Syndrome	gorlin syndrome	rs1564055259, rs1554692266, rs1554695039, rs1060502298, rs1588608794, rs863225467, rs878853847, rs1564058147, rs1554695251, rs1588610324, rs1131690969, rs1840283586, rs1843665508, rs1060502277, rs1588598613 View all (162 more)	N/A
Holoprosencephaly	holoprosencephaly 7	rs199476093, rs864622212, rs1554691658	N/A
Carcinoma, Somatic	basal cell carcinoma, somatic	rs587776689	N/A
Medulloblastoma	medulloblastoma	rs1564032829	N/A

Show/Hide Unknown Diseases (22)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
acute myeloid leukemia	Acute myeloid leukemia	N/A	N/A	ClinVar
Anterior segment dysgenesis	Irido-corneo-trabecular dysgenesis	N/A	N/A	ClinVar
Anxiety Disorder	Anxiety	N/A	N/A	GWAS
Asthma	Asthma	N/A	N/A	GWAS
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
Breast Cancer	Breast cancer	N/A	N/A	GWAS
Breast Carcinoma	breast carcinoma	N/A	N/A	ClinVar
Congenital Heart Disease	congenital heart disease	N/A	N/A	ClinVar
craniosynostosis syndrome	Craniosynostosis syndrome	N/A	N/A	ClinVar
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Fraser syndrome	fraser syndrome 3	N/A	N/A	ClinVar
hereditary cancer	Hereditary cancer	N/A	N/A	ClinVar
Hirschsprung Disease	Hirschsprung disease, susceptibility to, 1	N/A	N/A	ClinVar
lung adenocarcinoma	Lung adenocarcinoma	N/A	N/A	ClinVar
Mental Depression	Major depressive disorder	N/A	N/A	GWAS
Microform Holoprosencephaly	microform holoprosencephaly	N/A	N/A	ClinVar
neoplasm	Neoplasm	N/A	N/A	ClinVar
Neuroblastoma	neuroblastoma	N/A	N/A	ClinVar
Neuroticism	Neuroticism	N/A	N/A	GWAS
ovarian cancer	Ovarian cancer	N/A	N/A	ClinVar
Pituitary Stalk Interruption Syndrome	pituitary stalk interruption syndrome	N/A	N/A	ClinVar
Retinoblastoma	retinoblastoma	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (168)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	17461467, 20609239
Adenomatous Polyposis Coli	Associate	39519399, 9916927
Adrenal Gland Neoplasms	Associate	9703361
Adrenocortical Carcinoma	Associate	25078331
Allanson Pantzar McLeod syndrome	Associate	30181650
Ameloblastoma	Associate	22952776, 27386018, 33144428
Aneurysm	Inhibit	24768363
Asthma	Associate	25997986
Astrocytoma	Associate	20223881, 21059263
Ataxia Telangiectasia	Associate	19500021
Basal cell carcinoma multiple	Associate	16909134
Basal Cell Nevus Syndrome	Associate	10554356, 10649784, 10665653, 12700822, 12925203, 14987156, 15545745, 16024850, 16301862, 16405370, 16675912, 16909134, 17021131, 18329553, 18353202 View all (49 more)
Basal Cell Nevus Syndrome	Inhibit	31725470
Basaloid Follicular Hamartoma Syndrome Generalized Autosomal Dominant	Associate	34785065
Bone Diseases	Associate	26890308
Bone Diseases Metabolic	Associate	26890308
Bone Marrow Diseases	Associate	21707705
Brachydactyly type A1	Associate	21537345
Brain Diseases	Associate	31639285
Brain Neoplasms	Associate	9458162
Breast Neoplasms	Associate	16855373, 18636275, 18990233, 19414322, 31704974, 37628631
Buschke Lowenstein Tumor	Inhibit	36704875
Calcinosis	Associate	27448602
Calcinosis Cutis	Associate	25482929
Carcinogenesis	Associate	24368541, 24384722
Carcinoma Basal Cell	Associate	11159175, 11348463, 11982765, 12700822, 16909134, 18754037, 18854826, 19287498, 19642973, 19726763, 20875327, 22201935, 23774526, 24369017, 24942795 View all (18 more)
Carcinoma Ductal	Associate	18636275
Carcinoma Non Small Cell Lung	Associate	22357618, 24710823, 33580150
Carcinoma Pancreatic Ductal	Associate	24961235
Carcinoma Papillary	Associate	10646883, 15502856, 18498667
Carcinoma Papillary Follicular	Associate	24798740
Carcinoma Renal Cell	Associate	15841082, 33112109
Carcinoma Small Cell	Associate	20609239
Carcinoma Squamous Cell	Associate	11286632, 16778829, 26479420, 30379908
Carcinosarcoma	Associate	32209061
Cataract	Associate	35749127
Celiac Disease	Associate	23378984
Central Nervous System Vascular Malformations	Associate	16301862
Cholangiocarcinoma	Associate	24563076, 36807728
Chromosome 12 12p trisomy	Associate	22130798
Cleft Lip	Associate	16405370, 20583170
Cleft Palate	Associate	19937600
Colorectal Neoplasms	Associate	17461467, 20230186, 21811255, 24368541, 28675510, 34028566, 36356413
Congenital Hypothyroidism	Associate	16015630
Craniopharyngioma	Associate	27562488
Craniosynostoses	Associate	31578813
Cushing Syndrome	Associate	9703361
Death	Associate	35932013
Depression Postpartum	Associate	20875327
Dermatitis Perioral	Associate	29423837
Developmental Disabilities	Associate	18830227, 30411536, 30623622
Diffuse Intrinsic Pontine Glioma	Stimulate	24297113
Dupuytren Contracture	Associate	16301862
Dystonic Disorders	Associate	18353202, 36788060
Endometrial Neoplasms	Associate	30521558
Endometrial Stromal Tumors	Associate	33077922
Endometriosis	Associate	15831286
Epiretinal Membrane	Associate	40670919
Esophageal Neoplasms	Associate	34663841
Esophageal Squamous Cell Carcinoma	Associate	16475698, 25839328, 26857264, 34663841
Esophagitis	Associate	16475698
Extranodal Extension	Associate	30903583
Eye Abnormalities	Associate	16301862
Facial Asymmetry	Associate	24941978
Fibroma	Associate	18329553, 31362756, 38553309
Focal Dermal Hypoplasia	Associate	24814739, 25117323, 31533758, 33542540, 33886530, 34785065, 35932013
Fractures Bone	Associate	31275456
Genetic Diseases Inborn	Associate	19287498
Gigantiform Cementoma Familial	Associate	33144428
Glioblastoma	Associate	19642973, 25950952
Glioma	Associate	30795814
Growth and Developmental Retardation Ocular Ptosis Cardiac Defect and Anal Atresia	Associate	16024850
Growth Disorders	Associate	24814739
Hamartoma Syndrome Multiple	Associate	31639285
Hemangioblastoma	Associate	26768750
Hirschsprung Disease	Associate	24073265, 27889765
Holoprosencephaly	Associate	18830227, 29575684, 30936464, 38096238
Holoprosencephaly 7	Associate	18830227
Hydrocephalus	Associate	29983323
Hyperaldosteronism	Associate	9703361
Hyperplasia	Associate	23766265
Hypoxia	Associate	25826662
Inflammation	Associate	15502857, 16203990
Intellectual Disability	Associate	30181650
Jaw Cysts	Associate	16301862, 37283107
Kidney Neoplasms	Associate	23169491, 33112109
Leigh Disease	Associate	30379908
Leukemia	Associate	37021926
Leukemia Lymphocytic Chronic B Cell	Associate	22130798, 25250944
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	21235817
Lichen Sclerosus et Atrophicus	Associate	30379908
Lung Diseases	Associate	20010835
Lung Neoplasms	Associate	23108047
Lymphatic Metastasis	Associate	21861243, 24710823, 30903583
Medulloblastoma	Associate	16301862, 18068533, 19726761, 19966297, 21059263, 21325292, 22820256, 22832583, 25306392, 25940061, 26290144, 29753700, 32056145, 32296180, 32436863 View all (5 more)
Megalencephaly	Associate	30181650, 31639285
Melanoma	Associate	33810240
Meningeal Neoplasms	Associate	32711494
Meningioma	Associate	33860896
Microcephaly	Associate	18830227
Microphthalmia Isolated with Coloboma 2	Associate	33418956
Microphthalmos	Associate	16024850, 33418956
Microsatellite Instability	Associate	36356413
Multiple Endocrine Neoplasia	Associate	25482929
Multiple Endocrine Neoplasia Type 1	Associate	25482929
Neoplasm Invasiveness	Associate	21861243
Neoplasm Metastasis	Inhibit	20230186
Neoplasm Metastasis	Associate	24961235, 29309307, 31692284, 32711494
Neoplasms	Inhibit	12925203, 15140221, 17156473, 18068533, 18329553, 18353202, 22357618, 24368541, 25306392, 25330948, 25727044, 31462745, 31664194
Neoplasms	Associate	15111311, 16024850, 16203990, 18505566, 18769486, 18854826, 19287498, 19642973, 19726761, 20068110, 20223881, 20230186, 20703476, 20875327, 21134548 View all (34 more)
Neoplasms	Stimulate	17083567
Neoplasms Basal Cell	Associate	18543049, 29111235
Neoplasms Second Primary	Associate	37021926
Neuroblastoma	Associate	20830616, 28521285
Neuroectodermal Tumors Primitive Peripheral	Associate	20480407
Neuroendocrine Tumors	Associate	25482929
Nonsyndromic Deafness	Associate	18329553
Odontodysplasia	Associate	33144428
Odontogenic Cysts	Associate	16675912, 18353202, 20690502, 30610186, 33144428, 33542540, 33860896, 36242048
Odontogenic Tumors	Associate	20068110, 20690502, 22952776, 23951062, 26890308, 27066764, 31725470
Odontoma	Associate	33144428
Orofacial Cleft 1	Associate	16405370, 19937600, 28232668
Ossification of Posterior Longitudinal Ligament	Associate	24668667
Osteoporosis	Associate	26890308, 31275456
Osteoporotic Fractures	Associate	31275456
Osteosarcoma	Associate	27352193, 31175097, 35057767
Osteosarcoma	Stimulate	39457084
Ovarian Diseases	Associate	16301862, 33860896, 35775118
Ovarian Neoplasms	Associate	20223301, 22201935, 36205138
Pain	Associate	34323060
Pain Postoperative	Inhibit	34323060
Pancreatic Intraductal Neoplasms	Associate	30716324
Pancreatic Neoplasms	Associate	20814245, 24961235, 30716324
Personality Disorders	Associate	31623671
Prostate Cancer Hereditary 8	Associate	29230040
Prostatic Neoplasms	Associate	15482598, 29339090
Prostatic Neoplasms	Inhibit	28877722
Prostatitis	Associate	15482598
Prostatitis	Stimulate	21707705
Pseudotumor Cerebri	Associate	16301862, 30411536
Pulmonary Disease Chronic Obstructive	Associate	32769486
Retinal Dystrophies	Associate	18252212
Rhabdoid Tumor Predisposition Syndrome 1	Associate	35775118
Rhabdomyoma	Associate	32187044
Rhabdomyosarcoma	Associate	21618411
Rhabdomyosarcoma Embryonal	Associate	21618411, 29230040, 32087612
Salivary Gland Neoplasms	Associate	32067683
Schilbach Rott Syndrome Ocular Hypotelorism Submucosal Cleft Palate and Hypospadias	Associate	30936464
Sebaceous Gland Neoplasms	Associate	29423837
Simpson Golabi Behmel syndrome	Associate	23169491, 31639285
Skin Diseases	Stimulate	33509032
Small Cell Lung Carcinoma	Associate	33880365
Soft Tissue Neoplasms	Associate	31189998
Squamous Cell Carcinoma of Head and Neck	Associate	31744214
Stomach Neoplasms	Associate	23349881, 26857264
Teratoma	Associate	25117323, 32436863
Thymoma	Associate	37749819
Thyroid Cancer Papillary	Associate	11747322, 12937150, 15502856, 16015630, 16203990, 17156473, 17464312, 17727338, 18474871, 18505566, 19500021, 21498916, 22457234, 24798740, 24810336 View all (7 more)
Thyroid Neoplasms	Associate	24810336, 26695504, 26960768, 32737449, 9916927
Thyroid Nodule	Associate	20703476, 21190444, 28417935, 31623671, 33860907
Thyroiditis	Associate	18505566, 20703476
Thyroiditis Autoimmune	Associate	18505566
Urinary Bladder Neoplasms	Associate	21861243
Uterine Cervical Dysplasia	Associate	25330948
Uterine Cervical Neoplasms	Associate	22028038, 25330948
Ventricular Remodeling	Associate	23766265
Warts	Associate	36704875
Wilms Tumor	Associate	23169491

PTCH1 (patched 1)