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.	139285
Gene name Gene Name - the full gene name approved by the HGNC.	APC membrane recruitment protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AMER1
Synonyms (NCBI Gene) Gene synonyms aliases	FAM123B, OSCS, WTX
Disease Acronyms (UniProt) Disease acronyms from UniProt database	OSCS
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq11.2
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial scleros

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SNP ID	Visualize variation	Clinical significance	Consequence
rs137852216	G>A	Pathogenic	Coding sequence variant, stop gained
rs137852217	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs387906722	A>T	Pathogenic	Stop gained, coding sequence variant
rs387907269	G>A	Pathogenic	Stop gained, coding sequence variant
rs398122877	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs886039672	CGTGGATACATTTGGGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057520610	C>A	Pathogenic	Coding sequence variant, stop gained
rs1085307505	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1131691649	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555933442	->GGCT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555933578	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1569192251	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1569192258	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1569192315	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602067592	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602067633	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602067874	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1602068260	G>A	Pathogenic	Coding sequence variant, stop gained

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020401	hsa-miR-29c-3p	Sequencing	20371350
MIRT051169	hsa-miR-16-5p	CLASH	23622248
MIRT042310	hsa-miR-484	CLASH	23622248
MIRT508108	hsa-miR-34b-3p	HITS-CLIP	21572407
MIRT508106	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT508105	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT508104	hsa-miR-34c-3p	HITS-CLIP	21572407
MIRT508103	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT508102	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT559618	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT559617	hsa-miR-567	HITS-CLIP	21572407
MIRT559616	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT559615	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT559613	hsa-miR-3924	HITS-CLIP	21572407
MIRT559612	hsa-miR-297	HITS-CLIP	21572407
MIRT559608	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT508108	hsa-miR-34b-3p	HITS-CLIP	21572407
MIRT508106	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT508105	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT508104	hsa-miR-34c-3p	HITS-CLIP	21572407
MIRT508103	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT508102	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT508108	hsa-miR-34b-3p	HITS-CLIP	23313552
MIRT508107	hsa-miR-4637	HITS-CLIP	23313552
MIRT508106	hsa-miR-410-3p	HITS-CLIP	23313552
MIRT508104	hsa-miR-34c-3p	HITS-CLIP	23313552
MIRT508103	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT508102	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT508105	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT559616	hsa-miR-223-5p	HITS-CLIP	23313552
MIRT559615	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT508103	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT508102	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT559608	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT508108	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT508106	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT508105	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT508104	hsa-miR-34c-3p	HITS-CLIP	23824327
MIRT508103	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT508102	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT508108	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT508107	hsa-miR-4637	HITS-CLIP	23824327
MIRT508106	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT508105	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT508104	hsa-miR-34c-3p	HITS-CLIP	23824327
MIRT508103	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT508102	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT660720	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT660719	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT660718	hsa-miR-3130-3p	HITS-CLIP	23824327
MIRT660717	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT660716	hsa-miR-6762-5p	HITS-CLIP	23824327
MIRT660715	hsa-miR-6845-5p	HITS-CLIP	23824327
MIRT660714	hsa-miR-544a	HITS-CLIP	23824327
MIRT660712	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT508108	hsa-miR-34b-3p	PAR-CLIP	20371350
MIRT508106	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT508104	hsa-miR-34c-3p	PAR-CLIP	20371350
MIRT508102	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT512307	hsa-miR-548ac	PAR-CLIP	20371350
MIRT512306	hsa-miR-548bb-3p	PAR-CLIP	20371350
MIRT512305	hsa-miR-548d-3p	PAR-CLIP	20371350
MIRT512304	hsa-miR-548h-3p	PAR-CLIP	20371350
MIRT512303	hsa-miR-548z	PAR-CLIP	20371350
MIRT512302	hsa-miR-548ae-3p	PAR-CLIP	20371350
MIRT512301	hsa-miR-548ah-3p	PAR-CLIP	20371350
MIRT512300	hsa-miR-548aj-3p	PAR-CLIP	20371350
MIRT512299	hsa-miR-548am-3p	PAR-CLIP	20371350
MIRT512298	hsa-miR-548aq-3p	PAR-CLIP	20371350
MIRT512297	hsa-miR-548j-3p	PAR-CLIP	20371350
MIRT512296	hsa-miR-548x-3p	PAR-CLIP	20371350
MIRT512295	hsa-miR-656-3p	PAR-CLIP	20371350
MIRT482013	hsa-miR-29a-3p	PAR-CLIP	20371350
MIRT482012	hsa-miR-29b-3p	PAR-CLIP	20371350
MIRT020401	hsa-miR-29c-3p	PAR-CLIP	20371350
MIRT482010	hsa-miR-6165	PAR-CLIP	20371350
MIRT482009	hsa-miR-214-3p	PAR-CLIP	20371350
MIRT482008	hsa-miR-3619-5p	PAR-CLIP	20371350
MIRT482007	hsa-miR-761	PAR-CLIP	20371350
MIRT482006	hsa-miR-873-5p	PAR-CLIP	20371350
MIRT482005	hsa-miR-3148	PAR-CLIP	20371350
MIRT508108	hsa-miR-34b-3p	PAR-CLIP	21572407
MIRT508107	hsa-miR-4637	PAR-CLIP	21572407
MIRT508106	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT508104	hsa-miR-34c-3p	PAR-CLIP	21572407
MIRT559618	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT559617	hsa-miR-567	PAR-CLIP	21572407
MIRT559616	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT559615	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT559614	hsa-miR-8068	PAR-CLIP	21572407
MIRT508103	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT559613	hsa-miR-3924	PAR-CLIP	21572407
MIRT559612	hsa-miR-297	PAR-CLIP	21572407
MIRT559611	hsa-miR-6818-5p	PAR-CLIP	21572407
MIRT559610	hsa-miR-147a	PAR-CLIP	21572407
MIRT559609	hsa-miR-5010-3p	PAR-CLIP	21572407
MIRT508102	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT559608	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT482013	hsa-miR-29a-3p	PAR-CLIP	21572407
MIRT482012	hsa-miR-29b-3p	PAR-CLIP	21572407
MIRT020401	hsa-miR-29c-3p	PAR-CLIP	21572407
MIRT482011	hsa-miR-3120-3p	PAR-CLIP	21572407
MIRT482010	hsa-miR-6165	PAR-CLIP	21572407
MIRT482009	hsa-miR-214-3p	PAR-CLIP	21572407
MIRT482008	hsa-miR-3619-5p	PAR-CLIP	21572407
MIRT482007	hsa-miR-761	PAR-CLIP	21572407
MIRT482006	hsa-miR-873-5p	PAR-CLIP	21572407
MIRT482005	hsa-miR-3148	PAR-CLIP	21572407
MIRT508108	hsa-miR-34b-3p	PAR-CLIP	21572407
MIRT508107	hsa-miR-4637	PAR-CLIP	21572407
MIRT508106	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT508105	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT508104	hsa-miR-34c-3p	PAR-CLIP	21572407
MIRT508103	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT508102	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508108	hsa-miR-34b-3p	PAR-CLIP	22012620
MIRT508107	hsa-miR-4637	PAR-CLIP	22012620
MIRT508106	hsa-miR-410-3p	PAR-CLIP	22012620
MIRT508104	hsa-miR-34c-3p	PAR-CLIP	22012620
MIRT508103	hsa-miR-190a-3p	PAR-CLIP	22012620
MIRT508102	hsa-miR-1277-5p	PAR-CLIP	22012620
MIRT512307	hsa-miR-548ac	PAR-CLIP	22012620
MIRT512306	hsa-miR-548bb-3p	PAR-CLIP	22012620
MIRT512305	hsa-miR-548d-3p	PAR-CLIP	22012620
MIRT512304	hsa-miR-548h-3p	PAR-CLIP	22012620
MIRT512303	hsa-miR-548z	PAR-CLIP	22012620
MIRT512302	hsa-miR-548ae-3p	PAR-CLIP	22012620
MIRT512301	hsa-miR-548ah-3p	PAR-CLIP	22012620
MIRT512300	hsa-miR-548aj-3p	PAR-CLIP	22012620
MIRT512299	hsa-miR-548am-3p	PAR-CLIP	22012620
MIRT512298	hsa-miR-548aq-3p	PAR-CLIP	22012620
MIRT512297	hsa-miR-548j-3p	PAR-CLIP	22012620
MIRT512296	hsa-miR-548x-3p	PAR-CLIP	22012620
MIRT508105	hsa-miR-5011-5p	PAR-CLIP	22012620
MIRT512295	hsa-miR-656-3p	PAR-CLIP	22012620
MIRT508108	hsa-miR-34b-3p	PAR-CLIP	23446348
MIRT508107	hsa-miR-4637	PAR-CLIP	23446348
MIRT508106	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT508104	hsa-miR-34c-3p	PAR-CLIP	23446348
MIRT508103	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508102	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT512307	hsa-miR-548ac	PAR-CLIP	23446348
MIRT512306	hsa-miR-548bb-3p	PAR-CLIP	23446348
MIRT512305	hsa-miR-548d-3p	PAR-CLIP	23446348
MIRT512304	hsa-miR-548h-3p	PAR-CLIP	23446348
MIRT512303	hsa-miR-548z	PAR-CLIP	23446348
MIRT512302	hsa-miR-548ae-3p	PAR-CLIP	23446348
MIRT512301	hsa-miR-548ah-3p	PAR-CLIP	23446348
MIRT512300	hsa-miR-548aj-3p	PAR-CLIP	23446348
MIRT512299	hsa-miR-548am-3p	PAR-CLIP	23446348
MIRT512298	hsa-miR-548aq-3p	PAR-CLIP	23446348
MIRT512297	hsa-miR-548j-3p	PAR-CLIP	23446348
MIRT512296	hsa-miR-548x-3p	PAR-CLIP	23446348
MIRT508105	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT512295	hsa-miR-656-3p	PAR-CLIP	23446348
MIRT512294	hsa-miR-599	PAR-CLIP	23446348
MIRT508108	hsa-miR-34b-3p	PAR-CLIP	23446348
MIRT508107	hsa-miR-4637	PAR-CLIP	23446348
MIRT508106	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT508104	hsa-miR-34c-3p	PAR-CLIP	23446348
MIRT508103	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508102	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT512307	hsa-miR-548ac	PAR-CLIP	23446348
MIRT512306	hsa-miR-548bb-3p	PAR-CLIP	23446348
MIRT512305	hsa-miR-548d-3p	PAR-CLIP	23446348
MIRT512304	hsa-miR-548h-3p	PAR-CLIP	23446348
MIRT512303	hsa-miR-548z	PAR-CLIP	23446348
MIRT512302	hsa-miR-548ae-3p	PAR-CLIP	23446348
MIRT512301	hsa-miR-548ah-3p	PAR-CLIP	23446348
MIRT512300	hsa-miR-548aj-3p	PAR-CLIP	23446348
MIRT512299	hsa-miR-548am-3p	PAR-CLIP	23446348
MIRT512298	hsa-miR-548aq-3p	PAR-CLIP	23446348
MIRT512297	hsa-miR-548j-3p	PAR-CLIP	23446348
MIRT512296	hsa-miR-548x-3p	PAR-CLIP	23446348
MIRT508105	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT512295	hsa-miR-656-3p	PAR-CLIP	23446348
MIRT512294	hsa-miR-599	PAR-CLIP	23446348
MIRT508108	hsa-miR-34b-3p	PAR-CLIP	23446348
MIRT508107	hsa-miR-4637	PAR-CLIP	23446348
MIRT508106	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT508105	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508104	hsa-miR-34c-3p	PAR-CLIP	23446348
MIRT508103	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508102	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT482013	hsa-miR-29a-3p	PAR-CLIP	24398324
MIRT482012	hsa-miR-29b-3p	PAR-CLIP	24398324
MIRT020401	hsa-miR-29c-3p	PAR-CLIP	24398324
MIRT482010	hsa-miR-6165	PAR-CLIP	24398324
MIRT482009	hsa-miR-214-3p	PAR-CLIP	24398324
MIRT482008	hsa-miR-3619-5p	PAR-CLIP	24398324
MIRT482007	hsa-miR-761	PAR-CLIP	24398324
MIRT482006	hsa-miR-873-5p	PAR-CLIP	24398324
MIRT482005	hsa-miR-3148	PAR-CLIP	24398324
MIRT482046	hsa-miR-6510-5p	PAR-CLIP	23592263
MIRT482044	hsa-miR-6888-5p	PAR-CLIP	23592263
MIRT482043	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT482042	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT482041	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT482040	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT482039	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT482037	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT482038	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT482036	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT482035	hsa-miR-361-3p	PAR-CLIP	23592263
MIRT482033	hsa-miR-4790-3p	PAR-CLIP	23592263
MIRT482034	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT482031	hsa-miR-4784	PAR-CLIP	23592263
MIRT482032	hsa-miR-6132	PAR-CLIP	23592263
MIRT482030	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT482029	hsa-miR-6081	PAR-CLIP	23592263
MIRT482028	hsa-miR-765	PAR-CLIP	23592263
MIRT482027	hsa-miR-6716-5p	PAR-CLIP	23592263
MIRT482026	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT482025	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT482023	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT482024	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT482022	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT482021	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT482020	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT482019	hsa-miR-323a-5p	PAR-CLIP	23592263
MIRT482018	hsa-miR-876-3p	PAR-CLIP	23592263
MIRT482017	hsa-miR-4536-5p	PAR-CLIP	23592263
MIRT482016	hsa-miR-6824-5p	PAR-CLIP	23592263
MIRT482015	hsa-miR-3679-3p	PAR-CLIP	23592263
MIRT482014	hsa-miR-4441	PAR-CLIP	23592263
MIRT482013	hsa-miR-29a-3p	PAR-CLIP	23592263
MIRT482012	hsa-miR-29b-3p	PAR-CLIP	23592263
MIRT020401	hsa-miR-29c-3p	PAR-CLIP	23592263
MIRT482011	hsa-miR-3120-3p	PAR-CLIP	23592263
MIRT482010	hsa-miR-6165	PAR-CLIP	23592263
MIRT482009	hsa-miR-214-3p	PAR-CLIP	23592263
MIRT482008	hsa-miR-3619-5p	PAR-CLIP	23592263
MIRT482007	hsa-miR-761	PAR-CLIP	23592263
MIRT482006	hsa-miR-873-5p	PAR-CLIP	23592263
MIRT482005	hsa-miR-3148	PAR-CLIP	23592263
MIRT727719	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT727718	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT051169	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT727717	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT508102	hsa-miR-1277-5p	PAR-CLIP	27292025
MIRT508102	hsa-miR-1277-5p	PAR-CLIP	27292025
MIRT508103	hsa-miR-190a-3p	PAR-CLIP	27292025
MIRT508103	hsa-miR-190a-3p	PAR-CLIP	27292025
MIRT508108	hsa-miR-34b-3p	PAR-CLIP	27292025
MIRT508108	hsa-miR-34b-3p	PAR-CLIP	27292025
MIRT508104	hsa-miR-34c-3p	PAR-CLIP	27292025
MIRT508104	hsa-miR-34c-3p	PAR-CLIP	27292025
MIRT508106	hsa-miR-410-3p	PAR-CLIP	27292025
MIRT508106	hsa-miR-410-3p	PAR-CLIP	27292025
MIRT508107	hsa-miR-4637	PAR-CLIP	27292025
MIRT508107	hsa-miR-4637	PAR-CLIP	27292025
MIRT508105	hsa-miR-5011-5p	PAR-CLIP	27292025
MIRT508105	hsa-miR-5011-5p	PAR-CLIP	27292025
MIRT508102	hsa-miR-1277-5p	HITS-CLIP	27418678
MIRT508103	hsa-miR-190a-3p	HITS-CLIP	27418678
MIRT508103	hsa-miR-190a-3p	HITS-CLIP	27418678
MIRT559616	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT559616	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT559612	hsa-miR-297	HITS-CLIP	27418678
MIRT559613	hsa-miR-3924	HITS-CLIP	27418678
MIRT508105	hsa-miR-5011-5p	HITS-CLIP	27418678
MIRT508105	hsa-miR-5011-5p	HITS-CLIP	27418678
MIRT559618	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT559617	hsa-miR-567	HITS-CLIP	27418678
MIRT559608	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT559608	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT559615	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT559615	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT735000	hsa-miR-20a-5p	Microarray, Immunohistochemistry (IHC), Immunofluorescence, qRT-PCR, In situ hybridization	33032635
MIRT508108	hsa-miR-34b-3p	HITS-CLIP	21572407
MIRT508106	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT508105	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT508104	hsa-miR-34c-3p	HITS-CLIP	21572407
MIRT508103	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT508102	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT559618	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT559617	hsa-miR-567	HITS-CLIP	21572407
MIRT559616	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT559615	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT559613	hsa-miR-3924	HITS-CLIP	21572407
MIRT559612	hsa-miR-297	HITS-CLIP	21572407
MIRT559608	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT508108	hsa-miR-34b-3p	HITS-CLIP	21572407
MIRT508106	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT508105	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT508104	hsa-miR-34c-3p	HITS-CLIP	21572407
MIRT508103	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT508102	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT508108	hsa-miR-34b-3p	HITS-CLIP	23313552
MIRT508107	hsa-miR-4637	HITS-CLIP	23313552
MIRT508106	hsa-miR-410-3p	HITS-CLIP	23313552
MIRT508104	hsa-miR-34c-3p	HITS-CLIP	23313552
MIRT508103	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT508102	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT508105	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT559616	hsa-miR-223-5p	HITS-CLIP	23313552
MIRT559615	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT508103	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT508102	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT559608	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT508108	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT508106	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT508105	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT508104	hsa-miR-34c-3p	HITS-CLIP	23824327
MIRT508103	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT508102	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT508108	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT508107	hsa-miR-4637	HITS-CLIP	23824327
MIRT508106	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT508105	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT508104	hsa-miR-34c-3p	HITS-CLIP	23824327
MIRT508103	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT508102	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT660720	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT660719	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT660718	hsa-miR-3130-3p	HITS-CLIP	23824327
MIRT660717	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT660716	hsa-miR-6762-5p	HITS-CLIP	23824327
MIRT660715	hsa-miR-6845-5p	HITS-CLIP	23824327
MIRT660714	hsa-miR-544a	HITS-CLIP	23824327
MIRT660712	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT508108	hsa-miR-34b-3p	PAR-CLIP	20371350
MIRT508106	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT508104	hsa-miR-34c-3p	PAR-CLIP	20371350
MIRT508102	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT512307	hsa-miR-548ac	PAR-CLIP	20371350
MIRT512306	hsa-miR-548bb-3p	PAR-CLIP	20371350
MIRT512305	hsa-miR-548d-3p	PAR-CLIP	20371350
MIRT512304	hsa-miR-548h-3p	PAR-CLIP	20371350
MIRT512303	hsa-miR-548z	PAR-CLIP	20371350
MIRT512302	hsa-miR-548ae-3p	PAR-CLIP	20371350
MIRT512301	hsa-miR-548ah-3p	PAR-CLIP	20371350
MIRT512300	hsa-miR-548aj-3p	PAR-CLIP	20371350
MIRT512299	hsa-miR-548am-3p	PAR-CLIP	20371350
MIRT512298	hsa-miR-548aq-3p	PAR-CLIP	20371350
MIRT512297	hsa-miR-548j-3p	PAR-CLIP	20371350
MIRT512296	hsa-miR-548x-3p	PAR-CLIP	20371350
MIRT512295	hsa-miR-656-3p	PAR-CLIP	20371350
MIRT482013	hsa-miR-29a-3p	PAR-CLIP	20371350
MIRT482012	hsa-miR-29b-3p	PAR-CLIP	20371350
MIRT020401	hsa-miR-29c-3p	PAR-CLIP	20371350
MIRT482010	hsa-miR-6165	PAR-CLIP	20371350
MIRT482009	hsa-miR-214-3p	PAR-CLIP	20371350
MIRT482008	hsa-miR-3619-5p	PAR-CLIP	20371350
MIRT482007	hsa-miR-761	PAR-CLIP	20371350
MIRT482006	hsa-miR-873-5p	PAR-CLIP	20371350
MIRT482005	hsa-miR-3148	PAR-CLIP	20371350
MIRT508108	hsa-miR-34b-3p	PAR-CLIP	21572407
MIRT508107	hsa-miR-4637	PAR-CLIP	21572407
MIRT508106	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT508104	hsa-miR-34c-3p	PAR-CLIP	21572407
MIRT559618	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT559617	hsa-miR-567	PAR-CLIP	21572407
MIRT559616	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT559615	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT559614	hsa-miR-8068	PAR-CLIP	21572407
MIRT508103	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT559613	hsa-miR-3924	PAR-CLIP	21572407
MIRT559612	hsa-miR-297	PAR-CLIP	21572407
MIRT559611	hsa-miR-6818-5p	PAR-CLIP	21572407
MIRT559610	hsa-miR-147a	PAR-CLIP	21572407
MIRT559609	hsa-miR-5010-3p	PAR-CLIP	21572407
MIRT508102	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT559608	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT482013	hsa-miR-29a-3p	PAR-CLIP	21572407
MIRT482012	hsa-miR-29b-3p	PAR-CLIP	21572407
MIRT020401	hsa-miR-29c-3p	PAR-CLIP	21572407
MIRT482011	hsa-miR-3120-3p	PAR-CLIP	21572407
MIRT482010	hsa-miR-6165	PAR-CLIP	21572407
MIRT482009	hsa-miR-214-3p	PAR-CLIP	21572407
MIRT482008	hsa-miR-3619-5p	PAR-CLIP	21572407
MIRT482007	hsa-miR-761	PAR-CLIP	21572407
MIRT482006	hsa-miR-873-5p	PAR-CLIP	21572407
MIRT482005	hsa-miR-3148	PAR-CLIP	21572407
MIRT508108	hsa-miR-34b-3p	PAR-CLIP	21572407
MIRT508107	hsa-miR-4637	PAR-CLIP	21572407
MIRT508106	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT508105	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT508104	hsa-miR-34c-3p	PAR-CLIP	21572407
MIRT508103	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT508102	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508108	hsa-miR-34b-3p	PAR-CLIP	22012620
MIRT508107	hsa-miR-4637	PAR-CLIP	22012620
MIRT508106	hsa-miR-410-3p	PAR-CLIP	22012620
MIRT508104	hsa-miR-34c-3p	PAR-CLIP	22012620
MIRT508103	hsa-miR-190a-3p	PAR-CLIP	22012620
MIRT508102	hsa-miR-1277-5p	PAR-CLIP	22012620
MIRT512307	hsa-miR-548ac	PAR-CLIP	22012620
MIRT512306	hsa-miR-548bb-3p	PAR-CLIP	22012620
MIRT512305	hsa-miR-548d-3p	PAR-CLIP	22012620
MIRT512304	hsa-miR-548h-3p	PAR-CLIP	22012620
MIRT512303	hsa-miR-548z	PAR-CLIP	22012620
MIRT512302	hsa-miR-548ae-3p	PAR-CLIP	22012620
MIRT512301	hsa-miR-548ah-3p	PAR-CLIP	22012620
MIRT512300	hsa-miR-548aj-3p	PAR-CLIP	22012620
MIRT512299	hsa-miR-548am-3p	PAR-CLIP	22012620
MIRT512298	hsa-miR-548aq-3p	PAR-CLIP	22012620
MIRT512297	hsa-miR-548j-3p	PAR-CLIP	22012620
MIRT512296	hsa-miR-548x-3p	PAR-CLIP	22012620
MIRT508105	hsa-miR-5011-5p	PAR-CLIP	22012620
MIRT512295	hsa-miR-656-3p	PAR-CLIP	22012620
MIRT508108	hsa-miR-34b-3p	PAR-CLIP	23446348
MIRT508107	hsa-miR-4637	PAR-CLIP	23446348
MIRT508106	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT508104	hsa-miR-34c-3p	PAR-CLIP	23446348
MIRT508103	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508102	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT512307	hsa-miR-548ac	PAR-CLIP	23446348
MIRT512306	hsa-miR-548bb-3p	PAR-CLIP	23446348
MIRT512305	hsa-miR-548d-3p	PAR-CLIP	23446348
MIRT512304	hsa-miR-548h-3p	PAR-CLIP	23446348
MIRT512303	hsa-miR-548z	PAR-CLIP	23446348
MIRT512302	hsa-miR-548ae-3p	PAR-CLIP	23446348
MIRT512301	hsa-miR-548ah-3p	PAR-CLIP	23446348
MIRT512300	hsa-miR-548aj-3p	PAR-CLIP	23446348
MIRT512299	hsa-miR-548am-3p	PAR-CLIP	23446348
MIRT512298	hsa-miR-548aq-3p	PAR-CLIP	23446348
MIRT512297	hsa-miR-548j-3p	PAR-CLIP	23446348
MIRT512296	hsa-miR-548x-3p	PAR-CLIP	23446348
MIRT508105	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT512295	hsa-miR-656-3p	PAR-CLIP	23446348
MIRT512294	hsa-miR-599	PAR-CLIP	23446348
MIRT508108	hsa-miR-34b-3p	PAR-CLIP	23446348
MIRT508107	hsa-miR-4637	PAR-CLIP	23446348
MIRT508106	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT508104	hsa-miR-34c-3p	PAR-CLIP	23446348
MIRT508103	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508102	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT512307	hsa-miR-548ac	PAR-CLIP	23446348
MIRT512306	hsa-miR-548bb-3p	PAR-CLIP	23446348
MIRT512305	hsa-miR-548d-3p	PAR-CLIP	23446348
MIRT512304	hsa-miR-548h-3p	PAR-CLIP	23446348
MIRT512303	hsa-miR-548z	PAR-CLIP	23446348
MIRT512302	hsa-miR-548ae-3p	PAR-CLIP	23446348
MIRT512301	hsa-miR-548ah-3p	PAR-CLIP	23446348
MIRT512300	hsa-miR-548aj-3p	PAR-CLIP	23446348
MIRT512299	hsa-miR-548am-3p	PAR-CLIP	23446348
MIRT512298	hsa-miR-548aq-3p	PAR-CLIP	23446348
MIRT512297	hsa-miR-548j-3p	PAR-CLIP	23446348
MIRT512296	hsa-miR-548x-3p	PAR-CLIP	23446348
MIRT508105	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT512295	hsa-miR-656-3p	PAR-CLIP	23446348
MIRT512294	hsa-miR-599	PAR-CLIP	23446348
MIRT508108	hsa-miR-34b-3p	PAR-CLIP	23446348
MIRT508107	hsa-miR-4637	PAR-CLIP	23446348
MIRT508106	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT508105	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508104	hsa-miR-34c-3p	PAR-CLIP	23446348
MIRT508103	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508102	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT482013	hsa-miR-29a-3p	PAR-CLIP	24398324
MIRT482012	hsa-miR-29b-3p	PAR-CLIP	24398324
MIRT020401	hsa-miR-29c-3p	PAR-CLIP	24398324
MIRT482010	hsa-miR-6165	PAR-CLIP	24398324
MIRT482009	hsa-miR-214-3p	PAR-CLIP	24398324
MIRT482008	hsa-miR-3619-5p	PAR-CLIP	24398324
MIRT482007	hsa-miR-761	PAR-CLIP	24398324
MIRT482006	hsa-miR-873-5p	PAR-CLIP	24398324
MIRT482005	hsa-miR-3148	PAR-CLIP	24398324
MIRT482046	hsa-miR-6510-5p	PAR-CLIP	23592263
MIRT482044	hsa-miR-6888-5p	PAR-CLIP	23592263
MIRT482043	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT482042	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT482041	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT482040	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT482039	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT482037	hsa-miR-6783-5p	PAR-CLIP	23592263
MIRT482038	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT482036	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT482035	hsa-miR-361-3p	PAR-CLIP	23592263
MIRT482033	hsa-miR-4790-3p	PAR-CLIP	23592263
MIRT482034	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT482031	hsa-miR-4784	PAR-CLIP	23592263
MIRT482032	hsa-miR-6132	PAR-CLIP	23592263
MIRT482030	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT482029	hsa-miR-6081	PAR-CLIP	23592263
MIRT482028	hsa-miR-765	PAR-CLIP	23592263
MIRT482027	hsa-miR-6716-5p	PAR-CLIP	23592263
MIRT482026	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT482025	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT482023	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT482024	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT482022	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT482021	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT482020	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT482019	hsa-miR-323a-5p	PAR-CLIP	23592263
MIRT482018	hsa-miR-876-3p	PAR-CLIP	23592263
MIRT482017	hsa-miR-4536-5p	PAR-CLIP	23592263
MIRT482016	hsa-miR-6824-5p	PAR-CLIP	23592263
MIRT482015	hsa-miR-3679-3p	PAR-CLIP	23592263
MIRT482014	hsa-miR-4441	PAR-CLIP	23592263
MIRT482013	hsa-miR-29a-3p	PAR-CLIP	23592263
MIRT482012	hsa-miR-29b-3p	PAR-CLIP	23592263
MIRT020401	hsa-miR-29c-3p	PAR-CLIP	23592263
MIRT482011	hsa-miR-3120-3p	PAR-CLIP	23592263
MIRT482010	hsa-miR-6165	PAR-CLIP	23592263
MIRT482009	hsa-miR-214-3p	PAR-CLIP	23592263
MIRT482008	hsa-miR-3619-5p	PAR-CLIP	23592263
MIRT482007	hsa-miR-761	PAR-CLIP	23592263
MIRT482006	hsa-miR-873-5p	PAR-CLIP	23592263
MIRT482005	hsa-miR-3148	PAR-CLIP	23592263

Show/Hide all(26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17510365, 17925383, 21304492, 22682247, 24251807, 26496610
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IBA	21873635
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	21304492
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IMP	17925383
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	17925383, 21304492, 21498506
GO:0008013	Function	Beta-catenin binding	IBA	21873635
GO:0008013	Function	Beta-catenin binding	IDA	21498506
GO:0008013	Function	Beta-catenin binding	IPI	17510365
GO:0016055	Process	Wnt signaling pathway	TAS
GO:0016604	Component	Nuclear body	IDA
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	17510365
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0060348	Process	Bone development	IEA
GO:0060612	Process	Adipose tissue development	IEA
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	IBA	21873635
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	IMP	17925383
GO:0072161	Process	Mesenchymal cell differentiation involved in kidney development	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IGI	17510365
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IMP	21498506
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IMP	21304492
GO:1903364	Process	Positive regulation of cellular protein catabolic process	IDA	17510365
GO:1904713	Function	Beta-catenin destruction complex binding	IPI	17510365
GO:1904885	Process	Beta-catenin destruction complex assembly	TAS
GO:1904886	Process	Beta-catenin destruction complex disassembly	TAS

MIM	HGNC	e!Ensembl
300647	26837	ENSG00000184675

Protein

UniProt ID

Q5JTC6

Protein name

APC membrane recruitment protein 1 (Amer1) (Protein FAM123B) (Wilms tumor gene on the X chromosome protein)

Protein function

Regulator of the canonical Wnt signaling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signaling pathway,

PDB

4YJE , 4YJL , 4YK6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09422	WTX	89 → 457	WTX protein	Family
PF09422	WTX	452 → 536	WTX protein	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in fetal and adult kidney, brain and spleen. {ECO:0000269|PubMed:19416806}.

Sequence

METQKDEAAQAKGAAASGSTREQTAEKGAKNKAAEATEGPTSEPSSSGPGRLKKTAMKLF
GGKKGICTLPSFFGGGRSKGSGKGSSKKGLSKSKTHDGLSEAAHGPEDVVSEGTGFSLPL
PELPCQFPSSQSAHGALETGSRCKTSVAGATEKAVAEKFPSMPKPKKGLKGFFSSIRRHR
KSKVTGAEQSEPGAKGPERVRARPHEHVSSAPQVPCFEETFQAPRKENANPQDAPGPKVS
PTPEPSPPATEKMACKDPEKPMEACASAHVQPKPAPEASSLEEPHSPETGEKVVAGEVNP
PNGPVGDPLSLLFGDVTSLKSFDSLTGCGDIIAEQDMDSMTDSMASGGQRANRDGTKRSS
CLVTYQGGGEEMALPDDDDEEEEEEEEVELEEEEEEVKEEEEDDDLEYLWETAQMYPRPN
MNLGYHPTTSPGHHGYMLLDPVRSYPGLAPGELLTPQSDQQESAPNSDEGYYDSTTPGFE
DDSGEALGLVRRDCLPRDSYSGDALYEFYEPDDSLENSPPGDDCLYDLHGRSSEMFDPFL
NFEPFLSSRPPGAMETEEERLVTIQKQLLYWELRREQLEAQEARAREAHAREAHAREAYT
REAYGREAYAREAHTWEAHGREARTREAQAREVRCRETQVRETQARQEKPVLEYQMRPLG
PSVMGLAAGVSGTSQISHRGITSAFPTTASSEPDWRDFRPLEKRYEGTCSKKDQSTCLMQ
LFQSDAMFEPDMQEANFGGSPRRAYPTYSPPEDPEEEEVEKEGNATVSFSQALVEFTSNG
NLFSSMSCSSDSDSSFTQNLPELPPMVTFDIADVERDGEGKCEENPEFHNDEDLAASLEA
FELGYYHKHAFNNYHSRFYQGLPWGVSSLPRYLGLPGLHPRPPPAAMALNRRSRSLDTAE
TLEMELSNSHLVQGYLESDELQAQQEDSDEEDEEEEEGEWSRDSPLSLYTEPPGAYDWPA
WAPCPLPVGPGPAWISPNQLDRPSSQSPYRQATCCIPPMTMSISLSVPESRAPGESGPQL
ARPSHLHLPMGPCYNLQPQASQSMRARPRDVLLPVDEPSCSSSSGGFSPSPLPQAKPVGI
THGIPQLPRVRPEHPQPQPTHYGPSSLDLSKERAEQGASLATSYSSTAMNGNLAK

Sequence length

1135

Interactions

View interactions

	Reactome
			Degradation of beta-catenin by the destruction complex Beta-catenin phosphorylation cascade Disassembly of the destruction complex and recruitment of AXIN to the membrane Misspliced GSK3beta mutants stabilize beta-catenin S33 mutants of beta-catenin aren't phosphorylated S37 mutants of beta-catenin aren't phosphorylated S45 mutants of beta-catenin aren't phosphorylated T41 mutants of beta-catenin aren't phosphorylated APC truncation mutants have impaired AXIN binding AXIN missense mutants destabilize the destruction complex Truncations of AMER1 destabilize the destruction complex

Show/Hide Causal Diseases (16)

Disease term	Disease name	dbSNP ID	References
Causal
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation	Mild Mental Retardation, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	20950377, 22043478, 20209645, 19079258, 8723089, 28497491, 7004677, 20679664
Nephroblastoma	Nephroblastoma	rs1553551874, rs1555913934, rs769116796	28825729
Osteopathia striata cranial sclerosis	Osteopathia striata cranial sclerosis, Osteopathia striata-cranial sclerosis syndrome	rs1569192315, rs1569192251, rs137852216, rs137852217, rs387906722, rs398122877, rs387907269, rs1555933578, rs1602068260, rs1602067633, rs1930251154	28425981, 19079258, 27369646, 22716240
Osteopetrosis	Osteopetrosis	rs786205055, rs1562370077, rs119460973, rs1554996130, rs137853149, rs751881962, rs137853150, rs137853151, rs2134438856, rs121908669, rs121908670, rs121908671, rs121908673, rs121908655, rs121908656 View all (73 more)
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Pierre-robin syndrome	Pierre Robin Syndrome	rs1057519389, rs1057518986
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775
Wilms tumor	Bilateral Wilms Tumor	rs121918261, rs2116574924, rs587776573, rs587776574, rs121907900, rs121907901, rs587776576, rs121907909, rs121907906, rs587776577, rs121907911, rs80359604, rs80358785, rs104894855, rs122453119 View all (13 more)	28825729

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Specific learning disorder	Specific learning disability	ClinVar
Osteopathia striata	osteopathia striata with cranial sclerosis	GenCC

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma Clear Cell	Associate	37697729
Adenoma	Associate	26414517
Biliary Atresia	Associate	34750413
Bone Diseases Developmental	Associate	19757195
Breast Neoplasms	Associate	28590426
Colorectal Neoplasms	Associate	20696052, 26071483, 28551381, 28675510, 31243121, 37146911
Down Syndrome	Associate	28590426
Drug Related Side Effects and Adverse Reactions	Associate	22215675
Hydrops Fetalis	Associate	33686258
Immunologic Deficiency Syndromes	Associate	35460607
Learning Disabilities	Associate	32879452
Lung Neoplasms	Associate	34791810
Microsatellite Instability	Associate	20696052
Musculoskeletal Diseases	Associate	33686258
Neoplasms	Associate	17292822, 18311776, 22470196
Neoplasms	Inhibit	19416806, 22215675, 22285752, 22949735, 28032309, 35129140
Osteopathia striata cranial sclerosis	Associate	20150574, 20209645, 32879452, 33265914, 34622833, 36581928
Sclerosing bone dysplasia mental retardation	Associate	20209645, 32879452
Spinocerebellar Degenerations	Associate	20696052
Stomach Neoplasms	Associate	28032309
Triple Negative Breast Neoplasms	Associate	28590426
Tuberous Sclerosis	Associate	20150574, 34622833
Volvulus Of Midgut	Associate	36581928
Wilms Tumor	Associate	17292822, 18311776, 19757195, 20332316, 20696052, 22285752, 22409817, 22470196, 22952427, 23333300, 26274016, 28825729, 30155617, 30543698, 30671724, 32879452 View all (1 more)
Wilms Tumor	Inhibit	19416806, 22215675, 28032309

AMER1 (APC membrane recruitment protein 1)