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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	139285
Gene name	APC membrane recruitment protein 1
Gene symbol	AMER1
Synonyms (NCBI Gene)	FAM123BOSCSWTX
Chromosome	X
Chromosome location	Xq11.2
Summary	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

501

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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	MicroarrayImmunohistochemistry (IHC)ImmunofluorescenceqRT-PCRIn 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 (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
GO:0005515	Function	Protein binding	IPI	17510365, 17925383, 21304492, 22682247, 24251807, 26496610, 33961781
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IBA
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	21304492
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IMP	17925383
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	17925383, 21304492, 21498506
GO:0005886	Component	Plasma membrane	IEA
GO:0008013	Function	Beta-catenin binding	IBA
GO:0008013	Function	Beta-catenin binding	IDA	21498506
GO:0008013	Function	Beta-catenin binding	IPI	17510365
GO:0008289	Function	Lipid binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	17510365
GO:0045732	Process	Positive regulation of protein catabolic process	IDA	17510365
GO:0060348	Process	Bone development	IEA
GO:0060612	Process	Adipose tissue development	IEA
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	IBA
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:1904713	Function	Beta-catenin destruction complex binding	IPI	17510365

MIM	HGNC	e!Ensembl
300647	26837	ENSG00000184675

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
AMER1-related disorder	Pathogenic	rs137852217	RCV003398482	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cleft palate	Likely pathogenic; Pathogenic	rs1602067592	RCV001526571	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Pathogenic; Likely pathogenic	rs1930207901, rs1930230724, rs1930277434	RCV001293807 RCV001293808 RCV001293809	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic	rs137852216	RCV004668713	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteopathia striata with cranial sclerosis	Pathogenic; Likely pathogenic	rs2147091121, rs2147089265, rs1569192315, rs1569192251, rs137852216, rs137852217, rs2521221582, rs2521216920, rs2521224064, rs774922675, rs387906722, rs1555933578, rs398122877, rs387907269, rs1602068260 View all (3 more)	RCV001783474 RCV001783478 RCV000011450 RCV000011451 RCV000011453 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEBRILE CONVULSIONS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile seizure (within the age range of 3 months to 6 years)	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocarditis	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Obesity	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPATHIA STRIATA CRANIAL SCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia, X-linked	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URANOSTAPHYLOSCHISIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventriculomegaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILMS TUMOR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (89)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	17510365, 20978149, 24251807		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	20978149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	28326956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	20978149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	20978149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral Wilms Tumor	Wilms tumor	CTD_human_DG	28825729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	34750413	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	31290212		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Developmental	Bone disease	Pubtator	19757195	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	BEFREE	20168230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28590426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20696052, 26071483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20696052, 26071483, 28551381, 28675510, 31243121, 37146911	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	28590426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	19079258, 20209645, 20679664, 20950377, 22043478, 28497491, 7004677, 8723089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	24249259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	24249259, 24459086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	33686258	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	BEFREE	23401208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	22670894		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	21394719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal web	Laryngeal web	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	32879452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	18460646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18720004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34791810	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	24249259, 25882849, 29329488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20209645, 20332316, 24249259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	19079258, 20209645, 20679664, 20950377, 22043478, 28497491, 7004677, 8723089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17204608, 17292822, 17510365, 17620295, 18311776, 18391980, 18720004, 20434787, 20679664, 20956941, 20978149, 21248786, 21983638, 22470196, 22800892 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	17204608, 17510365, 17620295, 18391632, 19079258, 19294427, 19757195, 20168230, 20332316, 20679664, 20696052, 20956941, 21248786, 21394719, 22409817 View all (10 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	LHGDN	19137020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	CTD_human_DG	28825729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	19079258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopathia striata	Osteopathia striata	BEFREE	22716240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopathia striata	Osteopathia striata	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopathia striata cranial sclerosis	Osteopathia Striata Cranial Sclerosis	CTD_human_DG	19079258		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopathia striata cranial sclerosis	Osteopathia Striata Cranial Sclerosis	ORPHANET_DG	19079258		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopathia striata cranial sclerosis	Osteopathia Striata Cranial Sclerosis	CLINVAR_DG	19079258, 22716240, 27369646		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopathia striata cranial sclerosis	Osteopathia striata with cranial sclerosis	Pubtator	20150574, 20209645, 32879452, 33265914, 34622833, 36581928	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopathia striata cranial sclerosis	Osteopathia Striata Cranial Sclerosis	BEFREE	20209645, 20950377, 22043478, 22987541, 23401208, 24459086, 28497491, 28960679, 31290212		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopathia striata cranial sclerosis	Osteopathia Striata Cranial Sclerosis	GENOMICS_ENGLAND_DG	28425981		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopathia striata-cranial sclerosis syndrome	Osteopathia Striata Cranial Sclerosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopetrosis	Osteopetrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	24249259, 25882849, 29329488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	24249259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	19079258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28032309	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tracheomalacia	Tracheomalacia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	28590426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	20150574, 34622833	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	17292822, 18311776, 19757195, 20332316, 20696052, 22285752, 22409817, 22470196, 22952427, 23333300, 26274016, 28825729, 30155617, 30543698, 30671724, 32879452 View all (1 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wilms Tumor	Wilms tumor	Pubtator	19416806, 22215675, 28032309	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

AMER1 (APC membrane recruitment protein 1)