FIG4 (FIG4 phosphoinositide 5-phosphatase)

Gene

• Entrez ID: 9896
• Gene name: FIG4 phosphoinositide 5-phosphatase
• Gene symbol: FIG4
• Synonyms (NCBI Gene): ALS11, BOP, BTOP, CMT4J, KIAA0274, SAC3, YVS, dJ249I4.1
• Chromosome: 6
• Chromosome location: 6q21
• Summary: The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. T

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908287	T>C	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs121908288	C>A,T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, synonymous variant
rs121908290	G>T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs142482745	C>G,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, intron variant, downstream transcript variant
rs150301327	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs199522051	T>A,C	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Intron variant
rs201138266	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, downstream transcript variant, synonymous variant, genic downstream transcript variant
rs377357931	C>T	Pathogenic	Coding sequence variant, stop gained
rs397509394	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs397509395	G>A	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, intron variant
rs397514707	T>C	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs587777714	G>A	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs587777715	A>G,T	Uncertain-significance, pathogenic	Splice acceptor variant, intron variant
rs587777716	A>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs745790694	C>T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs747768373	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice donor variant
rs750712213	CT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs753207473	C>G,T	Pathogenic, uncertain-significance	Stop gained, 5 prime UTR variant, coding sequence variant, missense variant
rs764717219	G>-	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, frameshift variant
rs770043095	->T	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs772320287	->A	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs774294963	C>A,T	Pathogenic	Intron variant, synonymous variant, stop gained, coding sequence variant
rs774799167	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs776005417	G>A	Pathogenic, likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs786200937	TAAATTTG>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs879253926	C>T	Pathogenic	Stop gained, coding sequence variant
rs1191997383	->G	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1228223508	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1368013631	ATCAGGCA>-	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs1488999396	T>A	Pathogenic	Stop gained, coding sequence variant
rs1554300952	A>G	Likely-pathogenic	Splice acceptor variant
rs1554303800	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554309093	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1562648373	T>-	Pathogenic, uncertain-significance	5 prime UTR variant, coding sequence variant, frameshift variant, intron variant
rs1562648414	ATATT>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, intron variant
rs1583695322	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1583697607	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019027	hsa-miR-335-5p	Microarray	18185580
MIRT024087	hsa-miR-1-3p	Microarray	18668037
MIRT030214	hsa-miR-26b-5p	Microarray	19088304
MIRT715164	hsa-miR-545-3p	HITS-CLIP	19536157
MIRT715163	hsa-miR-1284	HITS-CLIP	19536157
MIRT715162	hsa-miR-6787-3p	HITS-CLIP	19536157
MIRT715161	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT715160	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT715159	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT715158	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT715157	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT607143	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT608492	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT627022	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT627021	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT627020	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT627019	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT627018	hsa-miR-3666	HITS-CLIP	23824327
MIRT627017	hsa-miR-4295	HITS-CLIP	23824327
MIRT627016	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT627015	hsa-miR-3135b	HITS-CLIP	23824327
MIRT627014	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT627013	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT627012	hsa-miR-3652	HITS-CLIP	23824327
MIRT627011	hsa-miR-4430	HITS-CLIP	23824327
MIRT627010	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT627009	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT627008	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT627007	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT638030	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT638029	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT638028	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT638027	hsa-miR-325	HITS-CLIP	23824327
MIRT638026	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT638025	hsa-miR-1976	HITS-CLIP	23824327
MIRT638024	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT638023	hsa-miR-4279	HITS-CLIP	23824327
MIRT638022	hsa-miR-498	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT627022	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT627021	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT627020	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT627019	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT627018	hsa-miR-3666	HITS-CLIP	23824327
MIRT627017	hsa-miR-4295	HITS-CLIP	23824327
MIRT627016	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT627015	hsa-miR-3135b	HITS-CLIP	23824327
MIRT627014	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT627013	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT627012	hsa-miR-3652	HITS-CLIP	23824327
MIRT627011	hsa-miR-4430	HITS-CLIP	23824327
MIRT627010	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT627009	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT627008	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT627007	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	24906430
MIRT607147	hsa-miR-8485	HITS-CLIP	24906430
MIRT607146	hsa-miR-329-3p	HITS-CLIP	24906430
MIRT607145	hsa-miR-362-3p	HITS-CLIP	24906430
MIRT607144	hsa-miR-603	HITS-CLIP	24906430
MIRT607143	hsa-miR-4789-3p	HITS-CLIP	24906430
MIRT608493	hsa-miR-6884-3p	HITS-CLIP	24906430
MIRT607142	hsa-miR-3941	HITS-CLIP	24906430
MIRT608492	hsa-miR-377-3p	HITS-CLIP	24906430
MIRT607147	hsa-miR-8485	HITS-CLIP	24906430
MIRT607146	hsa-miR-329-3p	HITS-CLIP	24906430
MIRT607145	hsa-miR-362-3p	HITS-CLIP	24906430
MIRT607144	hsa-miR-603	HITS-CLIP	24906430
MIRT607143	hsa-miR-4789-3p	HITS-CLIP	24906430
MIRT607142	hsa-miR-3941	HITS-CLIP	24906430
MIRT607147	hsa-miR-8485	HITS-CLIP	24906430
MIRT607146	hsa-miR-329-3p	HITS-CLIP	24906430
MIRT607145	hsa-miR-362-3p	HITS-CLIP	24906430
MIRT607144	hsa-miR-603	HITS-CLIP	24906430
MIRT607143	hsa-miR-4789-3p	HITS-CLIP	24906430
MIRT607142	hsa-miR-3941	HITS-CLIP	24906430
MIRT552227	hsa-miR-4476	PAR-CLIP	21572407
MIRT552226	hsa-miR-6876-5p	PAR-CLIP	21572407
MIRT519315	hsa-miR-4438	PAR-CLIP	23446348
MIRT519314	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT519313	hsa-miR-6849-3p	PAR-CLIP	23446348
MIRT519312	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT519311	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT519310	hsa-miR-6889-3p	PAR-CLIP	23446348
MIRT519309	hsa-miR-4252	PAR-CLIP	23446348
MIRT519308	hsa-miR-5095	PAR-CLIP	23446348
MIRT519306	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT519307	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT519305	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT607146	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT607146	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT607146	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT607146	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT607145	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT607145	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT607145	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT607145	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT608492	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT608492	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT607142	hsa-miR-3941	HITS-CLIP	27418678
MIRT607142	hsa-miR-3941	HITS-CLIP	27418678
MIRT607142	hsa-miR-3941	HITS-CLIP	27418678
MIRT607142	hsa-miR-3941	HITS-CLIP	27418678
MIRT607143	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT607143	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT607143	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT607143	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT607144	hsa-miR-603	HITS-CLIP	27418678
MIRT607144	hsa-miR-603	HITS-CLIP	27418678
MIRT607144	hsa-miR-603	HITS-CLIP	27418678
MIRT607144	hsa-miR-603	HITS-CLIP	27418678
MIRT608493	hsa-miR-6884-3p	HITS-CLIP	27418678
MIRT608493	hsa-miR-6884-3p	HITS-CLIP	27418678
MIRT607147	hsa-miR-8485	HITS-CLIP	27418678
MIRT607147	hsa-miR-8485	HITS-CLIP	27418678
MIRT607147	hsa-miR-8485	HITS-CLIP	27418678
MIRT607147	hsa-miR-8485	HITS-CLIP	27418678
MIRT607147	hsa-miR-8485	HITS-CLIP	28735896
MIRT715164	hsa-miR-545-3p	HITS-CLIP	19536157
MIRT715163	hsa-miR-1284	HITS-CLIP	19536157
MIRT715162	hsa-miR-6787-3p	HITS-CLIP	19536157
MIRT715161	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT715160	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT715159	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT715158	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT715157	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT607143	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT608492	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT627022	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT627021	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT627020	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT627019	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT627018	hsa-miR-3666	HITS-CLIP	23824327
MIRT627017	hsa-miR-4295	HITS-CLIP	23824327
MIRT627016	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT627015	hsa-miR-3135b	HITS-CLIP	23824327
MIRT627014	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT627013	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT627012	hsa-miR-3652	HITS-CLIP	23824327
MIRT627011	hsa-miR-4430	HITS-CLIP	23824327
MIRT627010	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT627009	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT627008	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT627007	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT638030	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT638029	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT638028	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT638027	hsa-miR-325	HITS-CLIP	23824327
MIRT638026	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT638025	hsa-miR-1976	HITS-CLIP	23824327
MIRT638024	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT638023	hsa-miR-4279	HITS-CLIP	23824327
MIRT638022	hsa-miR-498	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607146	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT607145	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT607144	hsa-miR-603	HITS-CLIP	23824327
MIRT607142	hsa-miR-3941	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT627022	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT627021	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT627020	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT627019	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT627018	hsa-miR-3666	HITS-CLIP	23824327
MIRT627017	hsa-miR-4295	HITS-CLIP	23824327
MIRT627016	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT627015	hsa-miR-3135b	HITS-CLIP	23824327
MIRT627014	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT627013	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT627012	hsa-miR-3652	HITS-CLIP	23824327
MIRT627011	hsa-miR-4430	HITS-CLIP	23824327
MIRT627010	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT627009	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT627008	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT627007	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT607147	hsa-miR-8485	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	HITS-CLIP	23824327
MIRT552226	hsa-miR-6876-5p	HITS-CLIP	23824327
MIRT552227	hsa-miR-4476	PAR-CLIP	21572407
MIRT552226	hsa-miR-6876-5p	PAR-CLIP	21572407
MIRT519315	hsa-miR-4438	PAR-CLIP	23446348
MIRT519314	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT519313	hsa-miR-6849-3p	PAR-CLIP	23446348
MIRT519312	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT519311	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT519310	hsa-miR-6889-3p	PAR-CLIP	23446348
MIRT519309	hsa-miR-4252	PAR-CLIP	23446348
MIRT519308	hsa-miR-5095	PAR-CLIP	23446348
MIRT519306	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT519307	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT519305	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT996716	hsa-miR-4428	CLIP-seq
MIRT996717	hsa-miR-450b-5p	CLIP-seq
MIRT996718	hsa-miR-542-3p	CLIP-seq
MIRT996716	hsa-miR-4428	CLIP-seq
MIRT996716	hsa-miR-4428	CLIP-seq
MIRT2680994	hsa-miR-4699-5p	CLIP-seq
MIRT2680995	hsa-miR-4709-3p	CLIP-seq
MIRT2680996	hsa-miR-4724-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	IEA
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IEA
GO:0004722	Function	Protein serine/threonine phosphatase activity	IEA
GO:0005515	Function	Protein binding	IPI	17556371, 19037259, 28514442, 32296183, 33961781, 35271311
GO:0005768	Component	Endosome	IEA
GO:0005811	Component	Lipid droplet	IDA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0007033	Process	Vacuole organization	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0010008	Component	Endosome membrane	IDA	17556371
GO:0010008	Component	Endosome membrane	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IEA
GO:0031642	Process	Negative regulation of myelination	IEA
GO:0031901	Component	Early endosome membrane	TAS
GO:0031902	Component	Late endosome membrane	TAS
GO:0032288	Process	Myelin assembly	IEA
GO:0034485	Function	Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IEA
GO:0034593	Function	Phosphatidylinositol bisphosphate phosphatase activity	IEA
GO:0036092	Process	Phosphatidylinositol-3-phosphate biosynthetic process	IEA
GO:0042552	Process	Myelination	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0043473	Process	Pigmentation	IEA
GO:0043812	Function	Phosphatidylinositol-4-phosphate phosphatase activity	IEA
GO:0043813	Function	Phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity	IBA
GO:0043813	Function	Phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity	IEA
GO:0043813	Function	Phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity	TAS
GO:0046488	Process	Phosphatidylinositol metabolic process	IEA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IBA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IEA
GO:0048666	Process	Neuron development	IEA
GO:0055037	Component	Recycling endosome	IEA

Other IDs

• MIM: 609390
• HGNC: 16873
• e!Ensembl: ENSG00000112367

Protein

• UniProt ID: Q92562
• Protein name: Polyphosphoinositide phosphatase (EC 3.1.3.-) (EC 3.1.3.36) (EC 3.1.3.86) (Phosphatidylinositol 3,5-bisphosphate 5-phosphatase) (SAC domain-containing protein 3) (Serine-protein phosphatase FIG4) (EC 3.1.3.16)
• Protein function: Dual specificity phosphatase component of the PI(3,5)P2 regulatory complex which regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (PubMed:17556371, PubMed:33098764). Catalyzes the dephosphorylati
• PDB: 7K1W
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02383	Syja_N	93 → 423	SacI homology domain	Family

• Sequence:

  MPTAAAPIISSVQKLVLYETRARYFLVGSNNAETKYRVLKIDRTEPKDLVIIDDRHVYTQ
  QEVRELLGRLDLGNRTKMGQKGSSGLFRAVSAFGVVGFVRFLEGYYIVLITKRRKMADIG
  GHAIYKVEDTNMIYIPNDSVRVTHPDEARYLRIFQNVDLSSNFYFSYSYDLSHSLQYNLT
  VLRMPLEMLKSEMTQNRQESFDIFEDEGLITQGGSGVFGICSEPYMKYVWNGELLDIIKS
  TVHRDWLLYIIHGFCGQSKLLIYGRPVYVTLIARRSSKFAGTRFLKRGANCEGDVANEVE
  TEQILCDASVMSFTAGSYSSYVQVRGSVPLYWSQDISTMMPKPPITLDQADPFAHVAALH
  FDQMFQRFGSPIIILNLVKEREKRKHERILSEELVAAVTYLNQFLPPEHTIVYIPWDMAK
  YTKSKLCNVLDRLNVIAESVVKKTGFFVNRPDSYCSILRPDEKWNELGGCVIPTGRLQTG
  ILRTNCVDCLDRTNTAQFMVGKCALAYQLYSLGLIDKPNLQFDTDAVRLFEELYEDHGDT
  LSLQYGGSQLVHRVKTYRKIAPWTQHSKDIMQTLSRYYSNAFSDADRQDSINLFLGVFHP
  TEGKPHLWELPTDFYLHHKNTMRLLPTRRSYTYWWTPEVIKHLPLPYDEVICAVNLKKLI
  VKKFHKYEEEIDIHNEFFRPYELSSFDDTFCLAMTSSARDFMPKTVGIDPSPFTVRKPDE
  TGKSVLGNKSNREEAVLQRKTAASAPPPPSEEAVSSSSEDDSGTDREEEGSVSQRSTPVK
  MTDAGDSAKVTENVVQPMKELYGINLSDGLSEEDFSIYSRFVQLGQSQHKQDKNSQQPCS
  RCSDGVIKLTPISAFSQDNIYEVQPPRVDRKSTEIFQAHIQASQGIMQPLGKEDSSMYRE
  YIRNRYL

• Sequence length: 907

Pathways

KEGG:

Inositol phosphate metabolism
Metabolic pathways
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases

Reactome:

Synthesis of PIPs at the Golgi membrane
Synthesis of PIPs at the early endosome membrane
Synthesis of PIPs at the late endosome membrane

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of the skeletal system	Likely pathogenic	rs1778167658	RCV001257139	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis	Likely pathogenic; Pathogenic	rs121908287, rs121908288, rs879253926	RCV001095515 RCV001095516 RCV003447128	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis type 11	Likely pathogenic; Pathogenic	rs756308787, rs121908287, rs121908288, rs2486126464, rs764717219, rs753207473, rs776005417, rs1583695322, rs767193357	RCV001809193 RCV000416487 RCV000001796 RCV002290316 RCV000416492 RCV000987758 RCV000763552 RCV000987759 RCV005036437	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bilateral parasagittal parieto-occipital polymicrogyria	Likely pathogenic; Pathogenic	rs121908287, rs775015373, rs776005417, rs587777715, rs786200937, rs767193357, rs2486126620	RCV001330564 RCV005254121 RCV000763552 RCV000790989 RCV001255783 RCV005036437 RCV001255786	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebral hypomyelination	Likely pathogenic	rs1777239433	RCV001254716	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs587777715, rs1562648373, rs1368013631, rs764717219, rs770043095, rs745790694, rs776090013, rs1197741113, rs1191997383, rs143956557, rs1583695322, rs1777638564, rs767193357, rs896444437	RCV000789118 RCV000789113 RCV000789115 RCV000789114 RCV000789120 RCV000789755 RCV000789754 RCV000789121 RCV000789707 RCV000789756 RCV005359721 RCV001172950 RCV001172951 RCV001172959	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4	Likely pathogenic; Pathogenic	rs2128386656, rs760575768, rs1161553940, rs2128392205, rs2128396856, rs1175493477, rs1777242231, rs2128397285, rs754338522, rs2128394568, rs2128391439, rs2128391901, rs2128375200, rs2128387076, rs1458183004, rs2128392620, rs121908287, rs121908288, rs1368013631, rs745554323, rs768011609, rs1432399232, rs2486221823, rs1774388527, rs775015373, rs984638888, rs779591881, rs768939677, rs2486171827, rs2486085709, rs377357931, rs2486228014, rs2486171406, rs2486117018, rs879253926, rs747768373, rs764717219, rs753008987, rs2486171698, rs2486185880, rs747899855, rs772320287, rs1490935299, rs2486137868, rs753207473, rs778949599, rs773462879, rs1261940378, rs774799167, rs776005417, rs770043095, rs745790694, rs774294963, rs1554300952, rs1554303800, rs750712213, rs1554309093, rs776090013, rs1197741113, rs1191997383, rs143956557, rs1488999396, rs786200937, rs1562648414, rs1228223508, rs769986219, rs1778167481, rs866895236, rs767193357, rs896444437, rs1777959239, rs1777909965, rs1777296419, rs764770160	RCV001379797 RCV001382831 RCV001389632 RCV001386182 RCV001386124 RCV002538573 RCV001892776 RCV001960579 RCV002022313 RCV001987823 RCV001945996 RCV001953681 RCV001972035 RCV001963081 RCV001973598 RCV001888003 RCV000476702 RCV001046714 RCV001851563 RCV003098064 RCV003063288 RCV003067657 RCV002648094 RCV002597987 RCV002658240 RCV002662335 RCV002676880 RCV002807100 RCV002870922 RCV002857168 RCV001235453 RCV003015697 RCV003035440 RCV003056411 RCV001857797 RCV001243544 RCV000533386 RCV003583859 RCV003583874 RCV003583988 RCV003744111 RCV000798693 RCV003744283 RCV003743172 RCV001861266 RCV003745257 RCV003857535 RCV003864605 RCV001382832 RCV001232367 RCV000801106 RCV001216587 RCV001043299 RCV000654162 RCV000654037 RCV000694453 RCV000687842 RCV003581720 RCV001387549 RCV001387550 RCV001873222 RCV000824501 RCV001248346 RCV002550724 RCV003744687 RCV001064731 RCV001051768 RCV001041528 RCV005093730 RCV001873605 RCV001222516 RCV001205918 RCV001215143 RCV001223602 RCV001232509	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4J	Pathogenic; Likely pathogenic	rs1562685713, rs587777715, rs121908287, rs1562648373, rs121908288, rs1368013631, rs1775850515, rs377357931, rs2486126897, rs747768373, rs764717219, rs772320287, rs753207473, rs776005417, rs770043095, rs745790694, rs774294963, rs1554309093, rs776090013, rs1197741113, rs1191997383, rs143956557, rs786200937, rs767193357	RCV001730134 RCV000144073 RCV000001791 RCV000001792 RCV000001793 RCV000001794 RCV002290416 RCV000201166 RCV003988088 RCV001658078 RCV000001795 RCV003447133 RCV001729560 RCV000763552 RCV003447140 RCV000825523 RCV003989563 RCV003447154 RCV003447254 RCV003447177 RCV003447236 RCV003447255 RCV000790987 RCV003447106 RCV005036437	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Failure to thrive	Likely pathogenic	rs1778167658	RCV001257139	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FIG4-related disorder	Likely pathogenic; Pathogenic	rs121908287, rs121908288, rs377357931, rs747768373, rs772320287, rs1359777462, rs776005417, rs143956557	RCV003952336 RCV003944790 RCV003897432 RCV003955389 RCV004549799 RCV003901622 RCV003419795 RCV003411740	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Micropenis	Likely pathogenic	rs1778167658	RCV001257139	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Penile hypospadias	Likely pathogenic	rs1778167658	RCV001257139	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe global developmental delay	Likely pathogenic	rs1778167658	RCV001257139	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Yunis-Varon syndrome	Likely pathogenic; Pathogenic	rs756308787, rs121908287, rs1562648373, rs377357931, rs778949599, rs776005417, rs745790694, rs750712213, rs587777715, rs786200937, rs767193357, rs764770160	RCV003147683 RCV001535566 RCV001195964 RCV005623072 RCV004787009 RCV000763552 RCV001197829 RCV003447156 RCV000790988 RCV000043691 RCV005036437 RCV003447320	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 11	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Dominant	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT DISTAL HEREDITARY MOTOR NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4J	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, type I	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPES I-IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronopathy, distal hereditary motor, autosomal dominant	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMICROGYRIA, BILATERAL OCCIPITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
YUNIS VARON SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26216398	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	19118816, 28051077		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	19118816, 23755159, 28051077, 37950760	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	ORPHANET_DG	24085347		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	24088667		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 11	Amyotrophic lateral sclerosis	GENOMICS_ENGLAND_DG	17572665		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 11	Amyotrophic lateral sclerosis	UNIPROT_DG	19118816		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 11	Amyotrophic lateral sclerosis	CLINVAR_DG	28051077		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 11	Amyotrophic lateral sclerosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	33405357	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arhinencephaly	Arrhinencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	33926255	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bilateral parasagittal parieto-occipital polymicrogyria	Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast Carcinoma	Breast Carcinoma	BEFREE	24070605		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27856290	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	30740813	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	17572665, 18429927, 21410794, 21655088, 22028665, 24878229, 25187576, 28859335, 29518270, 29688489, 29742619, 30165075, 31704059		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CTD_human_DG	17572665		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth Disease	CLINVAR_DG	17572665, 18556664, 21705420, 23489662, 23623387, 24088667, 24878229, 25614874, 28251916		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4J	Charcot-Marie-Tooth Disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J	Charcot-Marie-Tooth Disease	CLINVAR_DG	17572665, 18556664, 20630877, 21655088, 21705420, 23489662, 23623387, 24878229		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	17572665, 19118816, 23623387, 23888880		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J	Charcot-Marie-Tooth Disease	UNIPROT_DG	17572665, 21655088, 21705420		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J	Charcot-Marie-Tooth Disease	BEFREE	18556664, 20630877, 21705420, 23165282, 23489662, 23623387, 24088667, 24598713, 26708557, 27292112, 28051077, 29688489, 30740813, 31313076		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J	Charcot-Marie-Tooth Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease, Type Ia (disorder)	Charcot-Marie-Tooth disease	CTD_human_DG	17572665		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease, Type Ib	Charcot-Marie-Tooth disease	CTD_human_DG	17572665		★☆☆☆☆ Found in Text Mining only
Complex partial seizure with impairment of consciousness	Dyscognitive seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absent nipple	Congenital Absent Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of neck	Congenital Anomaly Of Neck	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Defect of skull ossification	Defect Of Skull Ossification	HPO_DG			★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	HPO_DG			★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	23165282		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	30740813, 33059769	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33168985, 35803560	Associate	★☆☆☆☆ Found in Text Mining only
Distal arthrogryposis syndrome	Distal arthrogryposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26708557		★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	35803560	Associate	★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Gingival Recession	Gingival Recession	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glossoptosis	Glossoptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen storage disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	17572665		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory Neuropathy Type I	Hereditary motor and sensory neuropathy	CTD_human_DG	17572665		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	CTD_human_DG	17572665		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension, Renovascular	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28153618		★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	30709920		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lateral Sclerosis	Lateral Sclerosis	BEFREE	19118816, 24088667		★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	35803560	Associate	★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	30740813		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	19686285		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24070605		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES	MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES	BEFREE	27292112		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	23165282		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	19118816, 37133535	Associate	★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	21410794		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	21705420, 38334070	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	27856290		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	27856290	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	24088667		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	21655088, 21705420, 22028665, 23489662, 25187576, 29518270		★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillon-Lefevre Disease	Papillon-Lefevre Disease	BEFREE	19118816, 31117107		★☆☆☆☆ Found in Text Mining only
Paralysis	Paralysis	Pubtator	37950760	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	37950760	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	37950760	Associate	★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	23489662, 29518270		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	18429927, 19118816, 22028665, 30740813		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	19118816, 28051077, 30740813	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	19118816, 22028665, 30740813		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	24598713, 26708557		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	27292112	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria, Bilateral Occipital	Bilateral Occipital Polymicrogyria	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL	Polymicrogyria	ORPHANET_DG	24598713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL	Polymicrogyria	UNIPROT_DG	24598713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL	Polymicrogyria	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Artery Stenosis	Renal Artery Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Roussy-Levy Syndrome (disorder)	Roussy-Levy Syndrome	CTD_human_DG	17572665		★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	27292112	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	37133535	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Type 7	Spastic Paraplegia	BEFREE	31117107		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thumb aplasia	Thumb Aplasia	GENOMICS_ENGLAND_DG	23623387		★☆☆☆☆ Found in Text Mining only
Thumb aplasia	Thumb Aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24070605		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Yunis Varon syndrome	Yunis Varon Syndrome	GENOMICS_ENGLAND_DG	17572665, 23623387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Yunis Varon syndrome	Yunis Varon Syndrome	BEFREE	23623387, 24088667, 25187576, 26708557, 28635952, 29688489, 30740813, 31591492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Yunis Varon syndrome	Yunis Varon Syndrome	ORPHANET_DG	23623387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Yunis Varon syndrome	Yunis Varon Syndrome	UNIPROT_DG	23623387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Yunis Varon syndrome	Yunis-varon syndrome	Pubtator	27292112, 30740813	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Yunis Varon syndrome	Yunis Varon Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Yunis Varon syndrome	Yunis Varon Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Yunis-Varon syndrome	Yunis Varon Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)