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	8573
Gene name	Calcium/calmodulin dependent serine protein kinase
Gene symbol	CASK
Synonyms (NCBI Gene)	CAGH39CAMGUKCMGFGS4LIN2MICPCHMRXSNATNRC8hCASK
Chromosome	X
Chromosome location	Xp11.4
Summary	This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the

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SNP ID	Visualize variation	Clinical significance	Consequence
rs5964007	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs76106850	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs137852815	G>A	Pathogenic	Coding sequence variant, stop gained
rs137852816	C>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852817	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852818	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852819	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852820	G>A,C	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs137964936	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs141840001	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs145641295	C>T	Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Synonymous variant, coding sequence variant
rs200402760	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs375004542	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs377590077	C>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs387906499	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs387906704	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs387906705	G>A	Pathogenic	Stop gained, coding sequence variant
rs398122844	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs398122845	T>A,C	Likely-pathogenic, pathogenic, benign	Splice acceptor variant
rs544979992	T>C	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs587783357	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783360	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783361	G>A	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs587783362	CTCGAACA>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs587783364	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783366	T>A	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs587783368	C>T	Pathogenic	Splice donor variant
rs587783369	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs587783370	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, stop gained, coding sequence variant
rs587783371	G>A	Pathogenic	Stop gained, coding sequence variant
rs727503840	C>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs727505397	C>T	Pathogenic	Missense variant, coding sequence variant
rs746017736	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs746809939	G>-,GG	Conflicting-interpretations-of-pathogenicity	Intron variant
rs747587301	G>A,C	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs749742837	G>A,C	Not-provided, pathogenic	Missense variant, stop gained, coding sequence variant
rs759736132	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs779508996	G>A,T	Pathogenic	Coding sequence variant, stop gained, intron variant, synonymous variant
rs794727270	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs797045431	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs797045433	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs863224854	T>C	Pathogenic	Splice acceptor variant
rs886039474	C>T	Pathogenic	Stop gained, coding sequence variant
rs886039651	T>A	Pathogenic	Stop gained, coding sequence variant
rs886039702	C>T	Pathogenic	Stop gained, coding sequence variant
rs886041153	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs886041284	->C	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs886041306	A>C	Pathogenic	Stop gained, coding sequence variant
rs886041645	->T	Pathogenic	Frameshift variant, coding sequence variant
rs886128077	G>A,C,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1021128001	G>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, genic upstream transcript variant, stop gained
rs1057517923	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518245	G>A	Pathogenic	Coding sequence variant, stop gained
rs1057521754	C>G	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1057523820	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524485	T>G	Pathogenic	Splice acceptor variant
rs1064794937	G>A	Pathogenic	Missense variant, coding sequence variant
rs1064796344	A>G	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1064796488	ACT>-	Pathogenic	Coding sequence variant, inframe deletion
rs1064796879	G>A	Not-provided, pathogenic	Coding sequence variant, stop gained
rs1064796884	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1114167352	G>A	Not-provided, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1135401762	A>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555971887	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555972599	C>A	Pathogenic	Splice donor variant
rs1555972628	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555975458	C>T	Pathogenic	Splice donor variant
rs1555975523	C>AT	Likely-pathogenic	Splice donor variant
rs1555977195	A>G	Pathogenic	Splice donor variant
rs1555977199	C>G	Likely-pathogenic	Splice donor variant
rs1555977248	T>A	Pathogenic	Stop gained, coding sequence variant
rs1555977269	C>T	Pathogenic	Splice acceptor variant
rs1555980033	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555981717	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1555981722	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555986221	T>C	Pathogenic	Intron variant
rs1555989338	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556000257	C>T	Likely-pathogenic	Intron variant, splice donor variant
rs1556004104	->T	Pathogenic	Stop gained, coding sequence variant
rs1556014749	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1556014805	CTGGTGCCATAAA>-	Pathogenic	Initiator codon variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1556016347	C>G	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1556121448	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556254569	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1556313509	->C	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556313516	T>A	Pathogenic	Initiator codon variant, genic upstream transcript variant, missense variant
rs1569283243	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1569288603	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569291261	C>T	Likely-pathogenic	Splice acceptor variant, intron variant
rs1569295677	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1569302194	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1569306724	TTTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569350501	C>G	Pathogenic	Splice donor variant
rs1569380062	T>C	Pathogenic	Splice acceptor variant
rs1569429756	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1602220170	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1602253464	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1602253509	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602292076	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1602292205	GGAGGAGGTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602386709	->TT	Pathogenic	Coding sequence variant, frameshift variant
rs1602424764	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602424843	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1602424869	CAGCATC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602431663	GGTGTT>CACCTACGTCATTTATGTAGGA	Pathogenic	Coding sequence variant, stop gained, inframe indel, 5 prime UTR variant
rs1602550687	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1602560972	CCAT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT031989	hsa-miR-16-5p	Proteomics	18668040
MIRT054155	hsa-miR-203a-3p	Luciferase reporter assayqRT-PCRWestern blot	25373785
MIRT054155	hsa-miR-203a-3p	Luciferase reporter assayqRT-PCRWestern blot	25373785
MIRT508645	hsa-miR-3908	HITS-CLIP	22927820
MIRT508644	hsa-miR-15a-5p	HITS-CLIP	22927820
MIRT508643	hsa-miR-15b-5p	HITS-CLIP	22927820
MIRT031989	hsa-miR-16-5p	HITS-CLIP	22927820
MIRT508642	hsa-miR-195-5p	HITS-CLIP	22927820
MIRT508641	hsa-miR-424-5p	HITS-CLIP	22927820
MIRT508640	hsa-miR-497-5p	HITS-CLIP	22927820
MIRT508639	hsa-miR-6838-5p	HITS-CLIP	22927820
MIRT706165	hsa-miR-503-5p	HITS-CLIP	22927820
MIRT706164	hsa-miR-646	HITS-CLIP	22927820
MIRT558957	hsa-miR-4274	HITS-CLIP	22927820
MIRT558956	hsa-miR-4519	HITS-CLIP	22927820
MIRT706163	hsa-miR-4524a-5p	HITS-CLIP	22927820
MIRT706162	hsa-miR-4524b-5p	HITS-CLIP	22927820
MIRT508645	hsa-miR-3908	PAR-CLIP	21572407
MIRT558957	hsa-miR-4274	PAR-CLIP	21572407
MIRT558956	hsa-miR-4519	PAR-CLIP	21572407
MIRT508639	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT508641	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT508640	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT508642	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT508644	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT508643	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT031989	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT508646	hsa-miR-4724-5p	PAR-CLIP	23446348
MIRT508645	hsa-miR-3908	PAR-CLIP	23446348
MIRT508646	hsa-miR-4724-5p	PAR-CLIP	23446348
MIRT508645	hsa-miR-3908	PAR-CLIP	23446348
MIRT508644	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT508643	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT031989	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT508642	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT508641	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT508640	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT508639	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT508644	hsa-miR-15a-5p	PAR-CLIP	27292025
MIRT508644	hsa-miR-15a-5p	PAR-CLIP	27292025
MIRT508644	hsa-miR-15a-5p	PAR-CLIP	27292025
MIRT508644	hsa-miR-15a-5p	PAR-CLIP	27292025
MIRT508643	hsa-miR-15b-5p	PAR-CLIP	27292025
MIRT508643	hsa-miR-15b-5p	PAR-CLIP	27292025
MIRT508643	hsa-miR-15b-5p	PAR-CLIP	27292025
MIRT508643	hsa-miR-15b-5p	PAR-CLIP	27292025
MIRT031989	hsa-miR-16-5p	PAR-CLIP	27292025
MIRT031989	hsa-miR-16-5p	PAR-CLIP	27292025
MIRT031989	hsa-miR-16-5p	PAR-CLIP	27292025
MIRT031989	hsa-miR-16-5p	PAR-CLIP	27292025
MIRT508642	hsa-miR-195-5p	PAR-CLIP	27292025
MIRT508642	hsa-miR-195-5p	PAR-CLIP	27292025
MIRT508642	hsa-miR-195-5p	PAR-CLIP	27292025
MIRT508642	hsa-miR-195-5p	PAR-CLIP	27292025
MIRT508645	hsa-miR-3908	PAR-CLIP	27292025
MIRT508645	hsa-miR-3908	PAR-CLIP	27292025
MIRT508645	hsa-miR-3908	PAR-CLIP	27292025
MIRT508645	hsa-miR-3908	PAR-CLIP	27292025
MIRT508641	hsa-miR-424-5p	PAR-CLIP	27292025
MIRT508641	hsa-miR-424-5p	PAR-CLIP	27292025
MIRT508641	hsa-miR-424-5p	PAR-CLIP	27292025
MIRT508641	hsa-miR-424-5p	PAR-CLIP	27292025
MIRT558957	hsa-miR-4274	PAR-CLIP	27292025
MIRT558956	hsa-miR-4519	PAR-CLIP	27292025
MIRT575877	hsa-miR-4524a-5p	PAR-CLIP	27292025
MIRT575877	hsa-miR-4524a-5p	PAR-CLIP	27292025
MIRT575877	hsa-miR-4524a-5p	PAR-CLIP	27292025
MIRT575877	hsa-miR-4524a-5p	PAR-CLIP	27292025
MIRT575876	hsa-miR-4524b-5p	PAR-CLIP	27292025
MIRT575876	hsa-miR-4524b-5p	PAR-CLIP	27292025
MIRT575876	hsa-miR-4524b-5p	PAR-CLIP	27292025
MIRT575876	hsa-miR-4524b-5p	PAR-CLIP	27292025
MIRT508640	hsa-miR-497-5p	PAR-CLIP	27292025
MIRT508640	hsa-miR-497-5p	PAR-CLIP	27292025
MIRT508640	hsa-miR-497-5p	PAR-CLIP	27292025
MIRT508640	hsa-miR-497-5p	PAR-CLIP	27292025
MIRT575879	hsa-miR-503-5p	PAR-CLIP	27292025
MIRT575879	hsa-miR-503-5p	PAR-CLIP	27292025
MIRT575879	hsa-miR-503-5p	PAR-CLIP	27292025
MIRT575879	hsa-miR-503-5p	PAR-CLIP	27292025
MIRT575878	hsa-miR-646	PAR-CLIP	27292025
MIRT575878	hsa-miR-646	PAR-CLIP	27292025
MIRT575878	hsa-miR-646	PAR-CLIP	27292025
MIRT575878	hsa-miR-646	PAR-CLIP	27292025
MIRT508639	hsa-miR-6838-5p	PAR-CLIP	27292025
MIRT508639	hsa-miR-6838-5p	PAR-CLIP	27292025
MIRT508639	hsa-miR-6838-5p	PAR-CLIP	27292025
MIRT508639	hsa-miR-6838-5p	PAR-CLIP	27292025
MIRT508644	hsa-miR-15a-5p	HITS-CLIP	27418678
MIRT508643	hsa-miR-15b-5p	HITS-CLIP	27418678
MIRT031989	hsa-miR-16-5p	HITS-CLIP	27418678
MIRT508642	hsa-miR-195-5p	HITS-CLIP	27418678
MIRT508645	hsa-miR-3908	HITS-CLIP	27418678
MIRT508641	hsa-miR-424-5p	HITS-CLIP	27418678
MIRT575877	hsa-miR-4524a-5p	HITS-CLIP	27418678
MIRT575876	hsa-miR-4524b-5p	HITS-CLIP	27418678
MIRT508640	hsa-miR-497-5p	HITS-CLIP	27418678
MIRT575879	hsa-miR-503-5p	HITS-CLIP	27418678
MIRT575878	hsa-miR-646	HITS-CLIP	27418678
MIRT508639	hsa-miR-6838-5p	HITS-CLIP	27418678
MIRT508644	hsa-miR-15a-5p	HITS-CLIP	28735896
MIRT508644	hsa-miR-15a-5p	HITS-CLIP	28735896
MIRT508644	hsa-miR-15a-5p	HITS-CLIP	28735896
MIRT508644	hsa-miR-15a-5p	HITS-CLIP	28735896
MIRT508644	hsa-miR-15a-5p	HITS-CLIP	28735896
MIRT508643	hsa-miR-15b-5p	HITS-CLIP	28735896
MIRT508643	hsa-miR-15b-5p	HITS-CLIP	28735896
MIRT508643	hsa-miR-15b-5p	HITS-CLIP	28735896
MIRT508643	hsa-miR-15b-5p	HITS-CLIP	28735896
MIRT508643	hsa-miR-15b-5p	HITS-CLIP	28735896
MIRT031989	hsa-miR-16-5p	HITS-CLIP	28735896
MIRT031989	hsa-miR-16-5p	HITS-CLIP	28735896
MIRT031989	hsa-miR-16-5p	HITS-CLIP	28735896
MIRT031989	hsa-miR-16-5p	HITS-CLIP	28735896
MIRT031989	hsa-miR-16-5p	HITS-CLIP	28735896
MIRT508642	hsa-miR-195-5p	HITS-CLIP	28735896
MIRT508642	hsa-miR-195-5p	HITS-CLIP	28735896
MIRT508642	hsa-miR-195-5p	HITS-CLIP	28735896
MIRT508642	hsa-miR-195-5p	HITS-CLIP	28735896
MIRT508642	hsa-miR-195-5p	HITS-CLIP	28735896
MIRT508645	hsa-miR-3908	HITS-CLIP	28735896
MIRT508645	hsa-miR-3908	HITS-CLIP	28735896
MIRT508645	hsa-miR-3908	HITS-CLIP	28735896
MIRT508641	hsa-miR-424-5p	HITS-CLIP	28735896
MIRT508641	hsa-miR-424-5p	HITS-CLIP	28735896
MIRT508641	hsa-miR-424-5p	HITS-CLIP	28735896
MIRT508641	hsa-miR-424-5p	HITS-CLIP	28735896
MIRT508641	hsa-miR-424-5p	HITS-CLIP	28735896
MIRT575877	hsa-miR-4524a-5p	HITS-CLIP	28735896
MIRT575877	hsa-miR-4524a-5p	HITS-CLIP	28735896
MIRT575877	hsa-miR-4524a-5p	HITS-CLIP	28735896
MIRT575876	hsa-miR-4524b-5p	HITS-CLIP	28735896
MIRT575876	hsa-miR-4524b-5p	HITS-CLIP	28735896
MIRT575876	hsa-miR-4524b-5p	HITS-CLIP	28735896
MIRT508646	hsa-miR-4724-5p	HITS-CLIP	28735896
MIRT508640	hsa-miR-497-5p	HITS-CLIP	28735896
MIRT508640	hsa-miR-497-5p	HITS-CLIP	28735896
MIRT508640	hsa-miR-497-5p	HITS-CLIP	28735896
MIRT508640	hsa-miR-497-5p	HITS-CLIP	28735896
MIRT508640	hsa-miR-497-5p	HITS-CLIP	28735896
MIRT575879	hsa-miR-503-5p	HITS-CLIP	28735896
MIRT575879	hsa-miR-503-5p	HITS-CLIP	28735896
MIRT575879	hsa-miR-503-5p	HITS-CLIP	28735896
MIRT575878	hsa-miR-646	HITS-CLIP	28735896
MIRT575878	hsa-miR-646	HITS-CLIP	28735896
MIRT575878	hsa-miR-646	HITS-CLIP	28735896
MIRT508639	hsa-miR-6838-5p	HITS-CLIP	28735896
MIRT508639	hsa-miR-6838-5p	HITS-CLIP	28735896
MIRT508639	hsa-miR-6838-5p	HITS-CLIP	28735896
MIRT508639	hsa-miR-6838-5p	HITS-CLIP	28735896
MIRT508639	hsa-miR-6838-5p	HITS-CLIP	28735896
MIRT733814	hsa-miR-451b	qRT-PCRWestern blotting	33725258
MIRT508645	hsa-miR-3908	HITS-CLIP	22927820
MIRT508644	hsa-miR-15a-5p	HITS-CLIP	22927820
MIRT508643	hsa-miR-15b-5p	HITS-CLIP	22927820
MIRT031989	hsa-miR-16-5p	HITS-CLIP	22927820
MIRT508642	hsa-miR-195-5p	HITS-CLIP	22927820
MIRT508641	hsa-miR-424-5p	HITS-CLIP	22927820
MIRT508640	hsa-miR-497-5p	HITS-CLIP	22927820
MIRT508639	hsa-miR-6838-5p	HITS-CLIP	22927820
MIRT575879	hsa-miR-503-5p	HITS-CLIP	22927820
MIRT575878	hsa-miR-646	HITS-CLIP	22927820
MIRT558957	hsa-miR-4274	HITS-CLIP	22927820
MIRT558956	hsa-miR-4519	HITS-CLIP	22927820
MIRT575877	hsa-miR-4524a-5p	HITS-CLIP	22927820
MIRT575876	hsa-miR-4524b-5p	HITS-CLIP	22927820
MIRT508645	hsa-miR-3908	PAR-CLIP	21572407
MIRT558957	hsa-miR-4274	PAR-CLIP	21572407
MIRT558956	hsa-miR-4519	PAR-CLIP	21572407
MIRT508639	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT508641	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT508640	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT508642	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT508644	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT508643	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT031989	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT508646	hsa-miR-4724-5p	PAR-CLIP	23446348
MIRT508645	hsa-miR-3908	PAR-CLIP	23446348
MIRT508646	hsa-miR-4724-5p	PAR-CLIP	23446348
MIRT508645	hsa-miR-3908	PAR-CLIP	23446348
MIRT508644	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT508643	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT031989	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT508642	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT508641	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT508640	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT508639	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT863409	hsa-miR-105	CLIP-seq
MIRT863410	hsa-miR-1207-5p	CLIP-seq
MIRT863411	hsa-miR-1270	CLIP-seq
MIRT863412	hsa-miR-1273f	CLIP-seq
MIRT863413	hsa-miR-1293	CLIP-seq
MIRT863414	hsa-miR-1343	CLIP-seq
MIRT863415	hsa-miR-143	CLIP-seq
MIRT863416	hsa-miR-144	CLIP-seq
MIRT863417	hsa-miR-15a	CLIP-seq
MIRT863418	hsa-miR-15b	CLIP-seq
MIRT863419	hsa-miR-16	CLIP-seq
MIRT863420	hsa-miR-194	CLIP-seq
MIRT863421	hsa-miR-195	CLIP-seq
MIRT863422	hsa-miR-203	CLIP-seq
MIRT863423	hsa-miR-204	CLIP-seq
MIRT863424	hsa-miR-2052	CLIP-seq
MIRT863425	hsa-miR-2054	CLIP-seq
MIRT863426	hsa-miR-211	CLIP-seq
MIRT863427	hsa-miR-25	CLIP-seq
MIRT863428	hsa-miR-299-3p	CLIP-seq
MIRT863429	hsa-miR-3119	CLIP-seq
MIRT863430	hsa-miR-3128	CLIP-seq
MIRT863431	hsa-miR-3130-3p	CLIP-seq
MIRT863432	hsa-miR-3138	CLIP-seq
MIRT863433	hsa-miR-3188	CLIP-seq
MIRT863434	hsa-miR-3194-3p	CLIP-seq
MIRT863435	hsa-miR-32	CLIP-seq
MIRT863436	hsa-miR-326	CLIP-seq
MIRT863437	hsa-miR-329	CLIP-seq
MIRT863438	hsa-miR-330-5p	CLIP-seq
MIRT863439	hsa-miR-34b	CLIP-seq
MIRT863440	hsa-miR-34c-3p	CLIP-seq
MIRT863441	hsa-miR-361-3p	CLIP-seq
MIRT863442	hsa-miR-362-3p	CLIP-seq
MIRT863443	hsa-miR-363	CLIP-seq
MIRT863444	hsa-miR-3661	CLIP-seq
MIRT863445	hsa-miR-367	CLIP-seq
MIRT863446	hsa-miR-3681	CLIP-seq
MIRT863447	hsa-miR-3690	CLIP-seq
MIRT863448	hsa-miR-370	CLIP-seq
MIRT863449	hsa-miR-3920	CLIP-seq
MIRT863450	hsa-miR-3921	CLIP-seq
MIRT863451	hsa-miR-3922-5p	CLIP-seq
MIRT863452	hsa-miR-3942-5p	CLIP-seq
MIRT863453	hsa-miR-424	CLIP-seq
MIRT863454	hsa-miR-4254	CLIP-seq
MIRT863455	hsa-miR-4265	CLIP-seq
MIRT863456	hsa-miR-4267	CLIP-seq
MIRT863457	hsa-miR-4287	CLIP-seq
MIRT863458	hsa-miR-4289	CLIP-seq
MIRT863459	hsa-miR-4296	CLIP-seq
MIRT863460	hsa-miR-4310	CLIP-seq
MIRT863461	hsa-miR-4317	CLIP-seq
MIRT863462	hsa-miR-4322	CLIP-seq
MIRT863463	hsa-miR-4328	CLIP-seq
MIRT863464	hsa-miR-4417	CLIP-seq
MIRT863465	hsa-miR-4457	CLIP-seq
MIRT863466	hsa-miR-4460	CLIP-seq
MIRT863467	hsa-miR-4483	CLIP-seq
MIRT863468	hsa-miR-452	CLIP-seq
MIRT863469	hsa-miR-4524	CLIP-seq
MIRT863470	hsa-miR-4653-5p	CLIP-seq
MIRT863471	hsa-miR-4659a-3p	CLIP-seq
MIRT863472	hsa-miR-4659b-3p	CLIP-seq
MIRT863473	hsa-miR-4676-3p	CLIP-seq
MIRT863474	hsa-miR-4683	CLIP-seq
MIRT863475	hsa-miR-4685-3p	CLIP-seq
MIRT863476	hsa-miR-4698	CLIP-seq
MIRT863477	hsa-miR-4703-5p	CLIP-seq
MIRT863478	hsa-miR-4704-3p	CLIP-seq
MIRT863479	hsa-miR-4704-5p	CLIP-seq
MIRT863480	hsa-miR-4708-3p	CLIP-seq
MIRT863481	hsa-miR-4708-5p	CLIP-seq
MIRT863482	hsa-miR-4712-3p	CLIP-seq
MIRT863483	hsa-miR-4720-5p	CLIP-seq
MIRT863484	hsa-miR-4727-3p	CLIP-seq
MIRT863485	hsa-miR-4731-3p	CLIP-seq
MIRT863486	hsa-miR-4736	CLIP-seq
MIRT863487	hsa-miR-4753-3p	CLIP-seq
MIRT863488	hsa-miR-4761-5p	CLIP-seq
MIRT863489	hsa-miR-4763-3p	CLIP-seq
MIRT863490	hsa-miR-4763-5p	CLIP-seq
MIRT863491	hsa-miR-4764-5p	CLIP-seq
MIRT863492	hsa-miR-4766-3p	CLIP-seq
MIRT863493	hsa-miR-4766-5p	CLIP-seq
MIRT863494	hsa-miR-4768-5p	CLIP-seq
MIRT863495	hsa-miR-4770	CLIP-seq
MIRT863496	hsa-miR-4799-3p	CLIP-seq
MIRT863497	hsa-miR-4801	CLIP-seq
MIRT863498	hsa-miR-495	CLIP-seq
MIRT863499	hsa-miR-497	CLIP-seq
MIRT863500	hsa-miR-503	CLIP-seq
MIRT863501	hsa-miR-516b	CLIP-seq
MIRT863502	hsa-miR-522	CLIP-seq
MIRT863503	hsa-miR-548ac	CLIP-seq
MIRT863504	hsa-miR-548ae	CLIP-seq
MIRT863505	hsa-miR-548ag	CLIP-seq
MIRT863506	hsa-miR-548ai	CLIP-seq
MIRT863507	hsa-miR-548aj	CLIP-seq
MIRT863508	hsa-miR-548am	CLIP-seq
MIRT863509	hsa-miR-548d-3p	CLIP-seq
MIRT863510	hsa-miR-548g	CLIP-seq
MIRT863511	hsa-miR-548p	CLIP-seq
MIRT863512	hsa-miR-548x	CLIP-seq
MIRT863513	hsa-miR-548z	CLIP-seq
MIRT863514	hsa-miR-569	CLIP-seq
MIRT863515	hsa-miR-576-3p	CLIP-seq
MIRT863516	hsa-miR-578	CLIP-seq
MIRT863517	hsa-miR-582-3p	CLIP-seq
MIRT863518	hsa-miR-583	CLIP-seq
MIRT863519	hsa-miR-586	CLIP-seq
MIRT863520	hsa-miR-593	CLIP-seq
MIRT863521	hsa-miR-620	CLIP-seq
MIRT863522	hsa-miR-628-5p	CLIP-seq
MIRT863523	hsa-miR-631	CLIP-seq
MIRT863524	hsa-miR-634	CLIP-seq
MIRT863525	hsa-miR-642b	CLIP-seq
MIRT863526	hsa-miR-7	CLIP-seq
MIRT863527	hsa-miR-876-3p	CLIP-seq
MIRT863528	hsa-miR-92a	CLIP-seq
MIRT863529	hsa-miR-92b	CLIP-seq
MIRT863530	hsa-miR-943	CLIP-seq
MIRT863531	hsa-miR-944	CLIP-seq
MIRT863417	hsa-miR-15a	CLIP-seq
MIRT863418	hsa-miR-15b	CLIP-seq
MIRT863419	hsa-miR-16	CLIP-seq
MIRT863421	hsa-miR-195	CLIP-seq
MIRT863453	hsa-miR-424	CLIP-seq
MIRT863469	hsa-miR-4524	CLIP-seq
MIRT863499	hsa-miR-497	CLIP-seq
MIRT863500	hsa-miR-503	CLIP-seq
MIRT863417	hsa-miR-15a	CLIP-seq
MIRT863418	hsa-miR-15b	CLIP-seq
MIRT863419	hsa-miR-16	CLIP-seq
MIRT863421	hsa-miR-195	CLIP-seq
MIRT863424	hsa-miR-2052	CLIP-seq
MIRT1956015	hsa-miR-216b	CLIP-seq
MIRT1956016	hsa-miR-2392	CLIP-seq
MIRT863429	hsa-miR-3119	CLIP-seq
MIRT863432	hsa-miR-3138	CLIP-seq
MIRT863433	hsa-miR-3188	CLIP-seq
MIRT863440	hsa-miR-34c-3p	CLIP-seq
MIRT1956017	hsa-miR-3605-5p	CLIP-seq
MIRT1956018	hsa-miR-3653	CLIP-seq
MIRT1956019	hsa-miR-3658	CLIP-seq
MIRT1956020	hsa-miR-3667-5p	CLIP-seq
MIRT1956021	hsa-miR-3671	CLIP-seq
MIRT1956022	hsa-miR-3675-3p	CLIP-seq
MIRT863446	hsa-miR-3681	CLIP-seq
MIRT1956023	hsa-miR-3692	CLIP-seq
MIRT1956024	hsa-miR-377	CLIP-seq
MIRT1956025	hsa-miR-3907	CLIP-seq
MIRT863449	hsa-miR-3920	CLIP-seq
MIRT863450	hsa-miR-3921	CLIP-seq
MIRT863451	hsa-miR-3922-5p	CLIP-seq
MIRT863453	hsa-miR-424	CLIP-seq
MIRT1956026	hsa-miR-4264	CLIP-seq
MIRT863463	hsa-miR-4328	CLIP-seq
MIRT1956027	hsa-miR-4330	CLIP-seq
MIRT1956028	hsa-miR-4422	CLIP-seq
MIRT863465	hsa-miR-4457	CLIP-seq
MIRT863466	hsa-miR-4460	CLIP-seq
MIRT863468	hsa-miR-452	CLIP-seq
MIRT863469	hsa-miR-4524	CLIP-seq
MIRT1956029	hsa-miR-4652-3p	CLIP-seq
MIRT863470	hsa-miR-4653-5p	CLIP-seq
MIRT1956030	hsa-miR-4675	CLIP-seq
MIRT863473	hsa-miR-4676-3p	CLIP-seq
MIRT1956031	hsa-miR-4719	CLIP-seq
MIRT863484	hsa-miR-4727-3p	CLIP-seq
MIRT863485	hsa-miR-4731-3p	CLIP-seq
MIRT1956032	hsa-miR-4738-3p	CLIP-seq
MIRT1956033	hsa-miR-4741	CLIP-seq
MIRT863487	hsa-miR-4753-3p	CLIP-seq
MIRT1956034	hsa-miR-4762-5p	CLIP-seq
MIRT863490	hsa-miR-4763-5p	CLIP-seq
MIRT863494	hsa-miR-4768-5p	CLIP-seq
MIRT863497	hsa-miR-4801	CLIP-seq
MIRT863498	hsa-miR-495	CLIP-seq
MIRT863499	hsa-miR-497	CLIP-seq
MIRT863500	hsa-miR-503	CLIP-seq
MIRT1956035	hsa-miR-543	CLIP-seq
MIRT863518	hsa-miR-583	CLIP-seq
MIRT863519	hsa-miR-586	CLIP-seq
MIRT1956036	hsa-miR-607	CLIP-seq
MIRT1956037	hsa-miR-633	CLIP-seq
MIRT863525	hsa-miR-642b	CLIP-seq
MIRT863530	hsa-miR-943	CLIP-seq
MIRT863414	hsa-miR-1343	CLIP-seq
MIRT863417	hsa-miR-15a	CLIP-seq
MIRT863418	hsa-miR-15b	CLIP-seq
MIRT863419	hsa-miR-16	CLIP-seq
MIRT863421	hsa-miR-195	CLIP-seq
MIRT863437	hsa-miR-329	CLIP-seq
MIRT863442	hsa-miR-362-3p	CLIP-seq
MIRT2193641	hsa-miR-3680	CLIP-seq
MIRT863453	hsa-miR-424	CLIP-seq
MIRT863463	hsa-miR-4328	CLIP-seq
MIRT2193642	hsa-miR-4789-3p	CLIP-seq
MIRT2193643	hsa-miR-4798-3p	CLIP-seq
MIRT863499	hsa-miR-497	CLIP-seq
MIRT2193644	hsa-miR-532-5p	CLIP-seq
MIRT1956035	hsa-miR-543	CLIP-seq
MIRT2193645	hsa-miR-140-3p	CLIP-seq
MIRT863417	hsa-miR-15a	CLIP-seq
MIRT863418	hsa-miR-15b	CLIP-seq
MIRT863419	hsa-miR-16	CLIP-seq
MIRT863421	hsa-miR-195	CLIP-seq
MIRT863424	hsa-miR-2052	CLIP-seq
MIRT2193646	hsa-miR-2355-3p	CLIP-seq
MIRT863429	hsa-miR-3119	CLIP-seq
MIRT2193647	hsa-miR-3126-3p	CLIP-seq
MIRT863433	hsa-miR-3188	CLIP-seq
MIRT863437	hsa-miR-329	CLIP-seq
MIRT863440	hsa-miR-34c-3p	CLIP-seq
MIRT863442	hsa-miR-362-3p	CLIP-seq
MIRT1956023	hsa-miR-3692	CLIP-seq
MIRT1956025	hsa-miR-3907	CLIP-seq
MIRT863451	hsa-miR-3922-5p	CLIP-seq
MIRT2193648	hsa-miR-3925-3p	CLIP-seq
MIRT2193649	hsa-miR-3935	CLIP-seq
MIRT2193650	hsa-miR-3938	CLIP-seq
MIRT863453	hsa-miR-424	CLIP-seq
MIRT2193651	hsa-miR-4266	CLIP-seq
MIRT1956027	hsa-miR-4330	CLIP-seq
MIRT2193652	hsa-miR-4445	CLIP-seq
MIRT863465	hsa-miR-4457	CLIP-seq
MIRT863469	hsa-miR-4524	CLIP-seq
MIRT2193653	hsa-miR-4646-3p	CLIP-seq
MIRT2193654	hsa-miR-4712-5p	CLIP-seq
MIRT2193655	hsa-miR-4718	CLIP-seq
MIRT1956031	hsa-miR-4719	CLIP-seq
MIRT2193656	hsa-miR-4728-5p	CLIP-seq
MIRT863485	hsa-miR-4731-3p	CLIP-seq
MIRT2193657	hsa-miR-4742-5p	CLIP-seq
MIRT863487	hsa-miR-4753-3p	CLIP-seq
MIRT2193658	hsa-miR-4757-5p	CLIP-seq
MIRT863497	hsa-miR-4801	CLIP-seq
MIRT863498	hsa-miR-495	CLIP-seq
MIRT863499	hsa-miR-497	CLIP-seq
MIRT863500	hsa-miR-503	CLIP-seq
MIRT1956035	hsa-miR-543	CLIP-seq
MIRT2193659	hsa-miR-552	CLIP-seq
MIRT863518	hsa-miR-583	CLIP-seq
MIRT863525	hsa-miR-642b	CLIP-seq
MIRT2193660	hsa-miR-770-5p	CLIP-seq
MIRT863417	hsa-miR-15a	CLIP-seq
MIRT863418	hsa-miR-15b	CLIP-seq
MIRT863419	hsa-miR-16	CLIP-seq
MIRT863420	hsa-miR-194	CLIP-seq
MIRT863421	hsa-miR-195	CLIP-seq
MIRT1956023	hsa-miR-3692	CLIP-seq
MIRT2385554	hsa-miR-3977	CLIP-seq
MIRT863453	hsa-miR-424	CLIP-seq
MIRT863469	hsa-miR-4524	CLIP-seq
MIRT863499	hsa-miR-497	CLIP-seq
MIRT863500	hsa-miR-503	CLIP-seq
MIRT863505	hsa-miR-548ag	CLIP-seq
MIRT863506	hsa-miR-548ai	CLIP-seq
MIRT863416	hsa-miR-144	CLIP-seq
MIRT863417	hsa-miR-15a	CLIP-seq
MIRT863418	hsa-miR-15b	CLIP-seq
MIRT863419	hsa-miR-16	CLIP-seq
MIRT863421	hsa-miR-195	CLIP-seq
MIRT2496855	hsa-miR-1976	CLIP-seq
MIRT1956015	hsa-miR-216b	CLIP-seq
MIRT2496856	hsa-miR-23a	CLIP-seq
MIRT2496857	hsa-miR-23b	CLIP-seq
MIRT2496858	hsa-miR-23c	CLIP-seq
MIRT2496859	hsa-miR-299-5p	CLIP-seq
MIRT863429	hsa-miR-3119	CLIP-seq
MIRT2193647	hsa-miR-3126-3p	CLIP-seq
MIRT2496860	hsa-miR-3163	CLIP-seq
MIRT863433	hsa-miR-3188	CLIP-seq
MIRT863434	hsa-miR-3194-3p	CLIP-seq
MIRT863437	hsa-miR-329	CLIP-seq
MIRT2496861	hsa-miR-340	CLIP-seq
MIRT863442	hsa-miR-362-3p	CLIP-seq
MIRT1956020	hsa-miR-3667-5p	CLIP-seq
MIRT1956021	hsa-miR-3671	CLIP-seq
MIRT1956022	hsa-miR-3675-3p	CLIP-seq
MIRT1956023	hsa-miR-3692	CLIP-seq
MIRT2496862	hsa-miR-369-3p	CLIP-seq
MIRT2496863	hsa-miR-374c	CLIP-seq
MIRT1956025	hsa-miR-3907	CLIP-seq
MIRT863451	hsa-miR-3922-5p	CLIP-seq
MIRT2385554	hsa-miR-3977	CLIP-seq
MIRT2496864	hsa-miR-421	CLIP-seq
MIRT863453	hsa-miR-424	CLIP-seq
MIRT863460	hsa-miR-4310	CLIP-seq
MIRT2496865	hsa-miR-4311	CLIP-seq
MIRT863465	hsa-miR-4457	CLIP-seq
MIRT2496866	hsa-miR-4645-3p	CLIP-seq
MIRT2193655	hsa-miR-4718	CLIP-seq
MIRT1956031	hsa-miR-4719	CLIP-seq
MIRT863485	hsa-miR-4731-3p	CLIP-seq
MIRT1956034	hsa-miR-4762-5p	CLIP-seq
MIRT863497	hsa-miR-4801	CLIP-seq
MIRT863498	hsa-miR-495	CLIP-seq
MIRT863499	hsa-miR-497	CLIP-seq
MIRT2496867	hsa-miR-5095	CLIP-seq
MIRT2496868	hsa-miR-548an	CLIP-seq
MIRT863518	hsa-miR-583	CLIP-seq
MIRT863519	hsa-miR-586	CLIP-seq
MIRT1956036	hsa-miR-607	CLIP-seq
MIRT863524	hsa-miR-634	CLIP-seq
MIRT863525	hsa-miR-642b	CLIP-seq
MIRT2496869	hsa-miR-655	CLIP-seq
MIRT2496870	hsa-miR-760	CLIP-seq
MIRT2677406	hsa-miR-1224-3p	CLIP-seq
MIRT1956015	hsa-miR-216b	CLIP-seq
MIRT2496859	hsa-miR-299-5p	CLIP-seq
MIRT2677407	hsa-miR-3065-5p	CLIP-seq
MIRT863437	hsa-miR-329	CLIP-seq
MIRT863442	hsa-miR-362-3p	CLIP-seq
MIRT1956020	hsa-miR-3667-5p	CLIP-seq
MIRT1956021	hsa-miR-3671	CLIP-seq
MIRT1956022	hsa-miR-3675-3p	CLIP-seq
MIRT2677408	hsa-miR-3679-3p	CLIP-seq
MIRT2385554	hsa-miR-3977	CLIP-seq
MIRT2496865	hsa-miR-4311	CLIP-seq
MIRT1956034	hsa-miR-4762-5p	CLIP-seq
MIRT2496867	hsa-miR-5095	CLIP-seq
MIRT863519	hsa-miR-586	CLIP-seq
MIRT1956036	hsa-miR-607	CLIP-seq
MIRT863524	hsa-miR-634	CLIP-seq
MIRT863485	hsa-miR-4731-3p	CLIP-seq
MIRT863497	hsa-miR-4801	CLIP-seq

Show/Hide all (58)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001953	Process	Negative regulation of cell-matrix adhesion	IMP	18664494
GO:0004385	Function	GMP kinase activity	IEA
GO:0004385	Function	GMP kinase activity	TAS	9660868
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	18423203
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005515	Function	Protein binding	IPI	9660868, 11377421, 15694377, 16688213, 18423203, 21763699, 22153505, 24366813, 25416956, 25852190, 29892012, 32296183, 32707033, 33961781, 35914814, 36012204, 39009827
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005604	Component	Basement membrane	IDA	18664494
GO:0005604	Component	Basement membrane	IDA	18664494
GO:0005604	Component	Basement membrane	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005652	Component	Nuclear lamina	IDA	18664494
GO:0005730	Component	Nucleolus	IDA	18664494
GO:0005737	Component	Cytoplasm	IDA	18664494
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9660868
GO:0005911	Component	Cell-cell junction	IBA
GO:0005911	Component	Cell-cell junction	IDA	18664494
GO:0005911	Component	Cell-cell junction	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007155	Process	Cell adhesion	TAS	9660868
GO:0008104	Process	Intracellular protein localization	IBA
GO:0010839	Process	Negative regulation of keratinocyte proliferation	IDA	18664494
GO:0010839	Process	Negative regulation of keratinocyte proliferation	IMP	18664494
GO:0015629	Component	Actin cytoskeleton	TAS	9660868
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016363	Component	Nuclear matrix	IDA	18664494
GO:0016740	Function	Transferase activity	IEA
GO:0030054	Component	Cell junction	IEA
GO:0031982	Component	Vesicle	IEA
GO:0042043	Function	Neurexin family protein binding	IEA
GO:0042734	Component	Presynaptic membrane	ISS
GO:0045202	Component	Synapse	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046037	Process	GMP metabolic process	IEA
GO:0046710	Process	GDP metabolic process	IEA
GO:0046928	Process	Regulation of neurotransmitter secretion	IBA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060170	Component	Ciliary membrane	ISS
GO:0061045	Process	Negative regulation of wound healing	IMP	18664494
GO:0070509	Process	Calcium ion import	IEA
GO:0071944	Component	Cell periphery	IEA
GO:0090280	Process	Positive regulation of calcium ion import	IEA
GO:0090288	Process	Negative regulation of cellular response to growth factor stimulus	IMP	18664494
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IEA

MIM	HGNC	e!Ensembl
300172	1497	ENSG00000147044

O14936

Protein name

Peripheral plasma membrane protein CASK (hCASK) (EC 2.7.11.1) (Calcium/calmodulin-dependent serine protein kinase) (Protein lin-2 homolog)

Protein function

Multidomain scaffolding Mg(2+)-independent protein kinase that catalyzes the phosphotransfer from ATP to proteins such as NRXN1, and plays a role in synaptic transmembrane protein anchoring and ion channel trafficking (PubMed:18423203). Contribu

PDB

1KGD , 1KWA , 1ZL8 , 3C0G , 3C0H , 3C0I , 3MFR , 3MFS , 3MFT , 3MFU , 3TAC , 6KMH , 7OAI , 7OAJ , 7OAK , 7OAL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	12 → 276	Protein kinase domain	Domain
PF02828	L27	347 → 400	L27 domain	Domain
PF02828	L27	406 → 457	L27 domain	Domain
PF00595	PDZ	490 → 568	PDZ domain	Domain
PF00018	SH3_1	618 → 674	SH3 domain	Domain
PF00625	Guanylate_kin	738 → 912	Guanylate kinase	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Expression is significantly greater in brain relative to kidney, lung, and liver and in fetal brain and kidney relative to lung and liver. {ECO:0000269|PubMed:11003712}.

Sequence

MADDDVLFEDVYELCEVIGKGPFSVVRRCINRETGQQFAVKIVDVAKFTSSPGLSTEDLK
REASICHMLKHPHIVELLETYSSDGMLYMVFEFMDGADLCFEIVKRADAGFVYSEAVASH
YMRQILEALRYCHDNNIIHRDVKPHCVLLASKENSAPVKLGGFGVAIQLGESGLVAGGRV
GTPHFMAPEVVKREPYGKPVDVWGCGVILFILLSGCLPFYGTKERLFEGIIKGKYKMNPR
QWSHISESAKDLVRRMLMLDPAERITVYEALNHPWLKERDRYAYKIHLPETVEQLRKFNA
RRKLKGAVLAAVSSHKFNSFYGDPPEELPDFSEDPTSSGLLAAERAVSQVLDSLEEIHAL
TDCSEKDLDFLHSVFQDQHLHTLLDLYDKINTKSSPQIRNPPSDAVQRAKEVLEEISCYP
ENNDAKELKRILTQPHFMALLQTHDVVAHEVYSDEALRVTPPPTSPYLNGDSPESANGDM
DMENVTRVRLVQFQKNTDEPMGITLKMNELNHCIVARIMHGGMIHRQGTLHVGDEIREIN
GISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCERDSPSTSRQSPANGHSSTNNS
VSDLPSTTQPKGRQIYVRAQFEYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGK
LENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCTWFGKKKKQYKDKYLAKHNAVF
DQLDLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKK
DEENGKNYYFVSHDQMMQDISNNEYLEYGSHEDAMYGTKLETIRKIHEQGLIAILDVEPQ
ALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQRTYAHYFDLTIINNEID
ETIRHLEEAVELVCTAPQWVPVSWVY

Sequence length

926

Interactions

View interactions

	Reactome
			Dopamine Neurotransmitter Release Cycle Neurexins and neuroligins

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 (23)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs1602292076	RCV001814250	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anemia, nonspherocytic hemolytic, due to G6PD deficiency	Likely pathogenic; Pathogenic	rs2147095645, rs886128077	RCV003883186 RCV000763625	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CASK-related disorder	Likely pathogenic; Pathogenic	rs1114167352, rs2519688140, rs2519772582, rs1064796879, rs1555977269	RCV000844926 RCV004529829 RCV004531607 RCV000509559 RCV000677399	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CASK-related intellectual disability and microcephaly with pontine and cerebellar hypoplasia	Pathogenic	rs2065377688	RCV001270856	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic	rs2147179060	RCV005922641	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital cerebellar hypoplasia	Pathogenic; Likely pathogenic	rs794727270, rs1555975523, rs1569295677, rs1569291261, rs1569380062	RCV001257954 RCV000626850 RCV001257980 RCV001257955 RCV001257981	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deficiency of butyrylcholinesterase	Pathogenic	rs749742837	RCV000509534	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental disorder	Likely pathogenic; Pathogenic	rs2147095645, rs2519234559, rs2519199772	RCV001843739 RCV003127303 RCV003127304	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dystonic disorder	Likely pathogenic; Pathogenic	rs398122845	RCV000626851	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FG syndrome 4	Likely pathogenic; Pathogenic	rs2147201250, rs2147095645, rs587783370, rs398122845, rs137852816, rs137852818, rs137852819, rs2519752309, rs2519234687, rs398122844, rs779508996, rs1064796344, rs886128077, rs1569429756, rs1569283243 View all (3 more)	RCV001761582 RCV003883186 RCV002250574 RCV003227734 RCV000012288 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Likely pathogenic	rs1555975523	RCV000626850	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertonia	Likely pathogenic	rs1555975523	RCV000626850	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inability to walk	Likely pathogenic; Pathogenic	rs398122845	RCV000626851	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs2147495667, rs137852815, rs2066559023, rs2067197219	RCV001526625 RCV004798721 RCV001260655 RCV001260653	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, CASK-related, X-linked	Pathogenic; Likely pathogenic	rs2147336769, rs2147111812, rs2147095994, rs2147155759, rs2148116120, rs2147112134, rs587783370, rs2147059734, rs794727270, rs2519215974, rs2519234724, rs1114167352, rs2519853547, rs2519819468, rs2519234356 View all (8 more)	RCV001391016 RCV001950476 RCV001970820 RCV001994755 RCV001914460 View all (18 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Pathogenic	rs2147095950, rs2520195542	RCV002277662 RCV003389220	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic	rs2147179060, rs1057517923	RCV005922640 RCV005900672	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus	Likely pathogenic; Pathogenic	rs398122845, rs1555975523	RCV000626851 RCV000626850	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary microcephaly	Likely pathogenic	rs1555975523	RCV000626850	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Smith-Magenis Syndrome-like	Likely pathogenic; Pathogenic	rs1114167352	RCV000491353	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndromic X-linked intellectual disability Najm type	Likely pathogenic; Pathogenic	rs12842195, rs2147179060, rs2147368049, rs2147095645, rs2147736023, rs587783357, rs587783360, rs587783361, rs587783362, rs587783364, rs587783366, rs587783368, rs587783370, rs587783371, rs2147495562 View all (62 more)	RCV001787238 RCV001808874 RCV001809122 RCV003883186 RCV001843835 View all (73 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs2147833223, rs1555977195	RCV005922523 RCV005937372 RCV005901185	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked syndromic intellectual disability	Pathogenic	rs2147138207	RCV002273149	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (35)

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.
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 1	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF PART OF BRAIN	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOPLASIA OF PART OF BRAIN	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FG syndrome	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDRANENCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND PONTINE AND CEREBELLAR HYPOPLASIA	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACROGYRIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROGYRIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTINGTON SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (173)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	12376462		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY	Anemia	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY	Anemia	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Angelman Syndrome	Angelman Syndrome	BEFREE	24839169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	32696595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	24505460, 32929080	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	24505460, 26575289, 28234597, 29610457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	20574149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	20574149, 35281599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	35281599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	32696595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	20574149, 25886057, 32696595, 35550617	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Stem Neoplasms	Brain stem neoplasms	Pubtator	20595373	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcium Metabolism Disorders	Calcium metabolism disorders	Pubtator	36168867	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	12376462		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	BEFREE	1525759		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	12376462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	27173948	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	CTD_human_DG	19165920		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Diseases	Cerebellar diseases	Pubtator	36175354	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	20029458, 20595373, 21954287, 22709267, 28139025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	20029458, 20595373, 22709267, 25886057, 29426960, 30549415, 35668446	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11880184, 28867734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23335782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24927672, 33113509	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	22709267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	19012874, 19165920, 21954287, 25979662, 30289607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	21954287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital nystagmus	Congenital nystagmus	BEFREE	20029458, 28139025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	29617172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	22452838, 22709267, 29691940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	22452838	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27173948, 32929080, 35441233, 36168867	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	19165920, 19377476, 20029458, 21498811, 21954287, 22452838, 22495306, 22709267, 23623288, 23662938, 24768552, 24781210, 25886057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	22452838	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy	Epileptic encephalopathy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	22709267		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	ORPHANET_DG	22709267		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	22452838, 32696595, 37095367	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	11880184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exudative retinopathy	Exudative retinopathy	BEFREE	29617172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
FG syndrome	FG Syndrome	BEFREE	12522552, 19200522, 22709267		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FG syndrome	FG Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FG SYNDROME 2	FG Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
FG SYNDROME 4 (disorder)	FG syndrome	GENOMICS_ENGLAND_DG	19165920, 22452838, 28783747		★★★★★ ★☆☆☆☆ Found in Text Mining only
FG SYNDROME 4 (disorder)	FG syndrome	UNIPROT_DG	19200522		★★★★★ ★☆☆☆☆ Found in Text Mining only
FG SYNDROME 4 (disorder)	FG syndrome	BEFREE	28139025		★★★★★ ★☆☆☆☆ Found in Text Mining only
FG SYNDROME 4 (disorder)	FG syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
FG SYNDROME 4 (disorder)	FG syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	31356645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal seizures, afebril	Focal Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized clonic seizures	Clonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	22452838	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30838489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30838489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30838489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	18629876		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Growth Disorders	Growth disorder	Pubtator	22452838, 35550617	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	BEFREE	29067402, 30549415, 31425583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	30289607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	18629876, 19012874, 19847910, 22452838, 22709267, 25902260, 28139025, 28783747, 29691940		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	LHGDN	18629876		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	20029458, 22452838, 22709267, 25886057, 28481730, 29258560, 29426960, 30549415, 32696595, 32929080, 35281599, 35550617, 35668446, 36168867	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Language Disorders	Language development disorders	Pubtator	20574149	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Large cell carcinoma of lung	Lung Carcinoma	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	20574149	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24927672	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28867734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	29223146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	18629876, 19847910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia	Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia	UNIPROT_DG	19165920, 19377476		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia	Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia	CLINVAR_DG	19165920, 21735175, 23165780		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia	Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia	GENOMICS_ENGLAND_DG	19165920, 28783747		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia	Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia	BEFREE	22452838		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia	Intellectual developmental disorder	Pubtator	25886057, 29258560, 29426960, 30549415, 35550617, 35668446, 36137748, 36168867, 36175354	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia	Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia	Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation Autosomal Recessive 7	Intellectual developmental disorder	Pubtator	35668446	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	CTD_human_DG	19165920, 19377476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	20029458, 20595373, 23406872, 24505460, 28234597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	19165920, 20029458, 20595373, 21735175, 22709267, 23165780, 25886057, 28783747, 29426960, 29617172, 29691940, 30549415		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	CTD_human_DG	19165920		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	20029458, 20595373, 22452838, 22709267, 29258560, 29426960, 30549415, 32696595, 35281599, 35550617, 35668446, 36137748	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microlissencephaly	Microlissencephaly	CTD_human_DG	19165920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	34126933	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	28384387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	19165920, 19377476, 20029458, 21498811, 21954287, 22452838, 22495306, 22709267, 23623288, 23662938, 24768552, 24781210, 25886057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	19165920, 19377476, 20029458, 21498811, 21954287, 22452838, 22495306, 22709267, 23623288, 23662938, 24768552, 24781210, 25886057		★★★★★ ★☆☆☆☆ Found in Text Mining only
MUNGAN SYNDROME	MUNGAN SYNDROME	BEFREE	27374770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1525759, 28867734, 29754823, 30838489, 31289196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30610199		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON RARE IN EUROPE: FG syndrome phenotypic spectrum	FG Syndrome Phenotypic Spectrum	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	20029458, 23406872, 25886057, 28139025		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus	Nystagmus	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus 1 congenital X linked	Nystagmus	Pubtator	20029458	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus Congenital	Nystagmus	Pubtator	20029458, 22709267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	20029458, 23406872, 25886057	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	20029458, 30549415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	20029458, 22452838, 30549415	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29852216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	29852216	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME	Partington syndrome	CLINGEN_DG	17287346, 19165920, 21735175, 21954287, 25886057, 27036546, 28234597, 29067402		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pena Shokeir syndrome type 1	Pena-shokeir syndrome	Pubtator	30549415	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	24505460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia	Pontocerebellar hypoplasia	Pubtator	22452838, 22709267, 24524299, 32696595, 36137748	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontoneocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	22452838, 22709267, 29691940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Dysautonomias	Dysautonomia	Pubtator	32696595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	22452838	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	31425583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	26711265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	24839169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	BEFREE	25765806		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	22452838	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Congenital Microcephaly	Congenital Microcephaly	CTD_human_DG	19165920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	19165920, 21735175, 23165780, 25886057, 29426960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific language impairment	Specific Language Impairment	BEFREE	20574149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11880184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	20595373	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	25880340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unconjugated hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	12376462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ureterocele	Ureterocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	30289607		★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	22709267		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked intellectual disability, Najm type	Mental Retardation, X-Linked	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

CASK (calcium/calmodulin dependent serine protein kinase)