PCDH19 (protocadherin 19)

Gene

• Entrez ID: 57526
• Gene name: Protocadherin 19
• Gene symbol: PCDH19
• Synonyms (NCBI Gene): DEE9, EFMR, EIEE9
• Disease Acronyms (UniProt): DEE9
• Chromosome: X
• Chromosome location: Xq22.1
• Summary: The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Mutations in this gene

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34651888	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant
rs132630323	A>T	Pathogenic	Coding sequence variant, missense variant
rs132630324	G>A	Pathogenic	Coding sequence variant, stop gained
rs132630325	G>C	Pathogenic	Coding sequence variant, stop gained
rs132630326	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs137962077	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs138771033	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs189342249	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs191333060	G>A,C	Conflicting-interpretations-of-pathogenicity, benign, pathogenic, likely-benign	Missense variant, coding sequence variant
rs192354176	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, likely-benign	Synonymous variant, coding sequence variant
rs193148631	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs201671718	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs201713027	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs201810406	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201989363	G>A,C,T	Uncertain-significance, likely-pathogenic, pathogenic, likely-benign	Missense variant, coding sequence variant
rs267606933	G>A,C	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs369638371	G>A,C	Likely-pathogenic, likely-benign	Synonymous variant, missense variant, coding sequence variant
rs370859689	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs372006606	G>A	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs376946966	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs398123603	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587784295	G>A,T	Uncertain-significance, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs587784299	T>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs587784300	C>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs749662385	G>A,C	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs756414485	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs758946412	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs769967221	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, stop gained
rs772837341	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs773740606	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs779136255	->CTCTTTCCCCTTAGGCTCACTTTCTCC	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs794726896	C>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs794726897	G>A	Pathogenic	Stop gained, coding sequence variant
rs796052794	C>A,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs796052795	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs796052796	G>A,C,T	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs796052797	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs796052798	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs796052799	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs796052801	G>C	Pathogenic	Stop gained, coding sequence variant
rs796052802	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs796052806	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs796052807	A>T	Pathogenic	Missense variant, coding sequence variant
rs796052811	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs796052812	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs796052815	G>C,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs796052816	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs796052817	G>C	Pathogenic	Stop gained, coding sequence variant
rs796052819	G>C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs796052820	G>A	Pathogenic	Stop gained, coding sequence variant
rs796052822	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs796052825	ATG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs796052826	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052827	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052828	CACT>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052829	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052830	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052831	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052832	CTGTGATGACCGGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052833	AGGTAGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052834	->G	Pathogenic	Frameshift variant, coding sequence variant
rs796052835	GAGA>-,GA,GAGAGA	Pathogenic	Frameshift variant, coding sequence variant
rs796052836	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs796052837	G>C,T	Pathogenic	Stop gained, coding sequence variant
rs796052839	T>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs796052841	->C	Pathogenic	Frameshift variant, coding sequence variant
rs796052842	->C	Pathogenic	Frameshift variant, coding sequence variant
rs796052844	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs797045873	G>A	Pathogenic	Stop gained, coding sequence variant
rs863224907	GC>AT	Likely-pathogenic	Missense variant, coding sequence variant
rs886039707	GCGCGGCGGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs886039728	T>C	Pathogenic	Splice acceptor variant
rs886043572	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs886044166	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057520761	G>T	Pathogenic	Coding sequence variant, stop gained
rs1057521256	G>A,C	Likely-benign, likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1057524751	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs1060502175	T>-,TT	Pathogenic	Frameshift variant, coding sequence variant
rs1060502176	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064794762	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794763	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794781	AGCTGCTGG>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant, intron variant
rs1064795237	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795511	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795834	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064797376	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1064797377	AAGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1085307873	AGAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691362	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1131691509	CGGGAT>GGGAA	Pathogenic	Frameshift variant, coding sequence variant
rs1131691603	C>A	Pathogenic	Coding sequence variant, stop gained
rs1131691646	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs1131692002	CGGCACGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1239794408	G>A,C	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1367823627	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555984437	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555984453	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555984946	A>G	Pathogenic	Splice donor variant
rs1555984947	C>T	Pathogenic	Splice donor variant
rs1555985105	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555985142	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555985163	CCAGGTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555985301	G>C	Pathogenic	Stop gained, coding sequence variant
rs1555985368	T>A	Pathogenic	Missense variant, coding sequence variant
rs1555985372	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555985389	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555985416	->GGTCG	Pathogenic	Frameshift variant, coding sequence variant
rs1555985427	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555985475	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555985482	C>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555985543	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555985623	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555985639	GC>AT	Pathogenic	Stop gained, coding sequence variant
rs1555985689	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555985745	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555985780	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555985799	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555985820	GC>AA	Pathogenic	Stop gained, coding sequence variant
rs1555985864	CAGCAGCAGCAGCACCGGC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1569314119	T>A	Pathogenic	Coding sequence variant, stop gained
rs1569314152	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1569314471	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1569314475	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569314809	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1569315042	GA>-	Pathogenic	Coding sequence variant, stop gained
rs1569315156	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569315186	T>A	Pathogenic	Coding sequence variant, stop gained
rs1569315231	G>C	Pathogenic	Coding sequence variant, stop gained
rs1569315381	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569315508	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1569315842	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569315876	G>C	Likely-pathogenic	Coding sequence variant, stop gained
rs1569315950	->GT	Pathogenic	Coding sequence variant, frameshift variant
rs1602595101	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1602595136	T>C	Pathogenic	Intron variant
rs1602600561	C>T	Pathogenic	Splice acceptor variant
rs1602632270	C>T	Likely-pathogenic	Splice donor variant
rs1602635261	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1602635282	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1602635656	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602635781	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602636059	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602636096	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1602636466	ACGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602636591	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602636925	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1602636952	C>A	Pathogenic	Coding sequence variant, stop gained
rs1602637452	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602637517	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602637696	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1602637774	T>A	Pathogenic	Coding sequence variant, stop gained
rs1602638228	GGGGCTCTGGCGGCACAGCAGATCACGGTCAAT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1602638456	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602638463	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602638594	GCGGCAGCCTGCGT>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT053730	hsa-miR-624-3p	Microarray	22942087
MIRT643749	hsa-miR-548m	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618059	hsa-miR-198	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT627864	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT627864	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618059	hsa-miR-198	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT635137	hsa-miR-3140-3p	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT627864	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT627864	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618059	hsa-miR-198	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT643749	hsa-miR-548m	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618059	hsa-miR-198	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT627864	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT627864	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618059	hsa-miR-198	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT635137	hsa-miR-3140-3p	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT627864	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT627864	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618061	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT618060	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT618059	hsa-miR-198	HITS-CLIP	23824327
MIRT618058	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT618057	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT618056	hsa-miR-5096	HITS-CLIP	23824327
MIRT618055	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT618054	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT1216820	hsa-miR-1256	CLIP-seq
MIRT1216821	hsa-miR-141	CLIP-seq
MIRT1216822	hsa-miR-200a	CLIP-seq
MIRT1216823	hsa-miR-3120-3p	CLIP-seq
MIRT1216824	hsa-miR-3682-3p	CLIP-seq
MIRT1216825	hsa-miR-3973	CLIP-seq
MIRT1216826	hsa-miR-4747-5p	CLIP-seq
MIRT1216827	hsa-miR-545	CLIP-seq
MIRT1216828	hsa-miR-562	CLIP-seq
MIRT1216829	hsa-miR-802	CLIP-seq
MIRT1216830	hsa-miR-124	CLIP-seq
MIRT1216831	hsa-miR-1303	CLIP-seq
MIRT1216832	hsa-miR-132	CLIP-seq
MIRT1216833	hsa-miR-1323	CLIP-seq
MIRT1216821	hsa-miR-141	CLIP-seq
MIRT1216834	hsa-miR-1470	CLIP-seq
MIRT1216835	hsa-miR-149	CLIP-seq
MIRT1216822	hsa-miR-200a	CLIP-seq
MIRT1216836	hsa-miR-212	CLIP-seq
MIRT1216837	hsa-miR-3064-5p	CLIP-seq
MIRT1216838	hsa-miR-3123	CLIP-seq
MIRT1216839	hsa-miR-338-5p	CLIP-seq
MIRT1216840	hsa-miR-3591-3p	CLIP-seq
MIRT1216841	hsa-miR-3607-3p	CLIP-seq
MIRT1216824	hsa-miR-3682-3p	CLIP-seq
MIRT1216842	hsa-miR-3692	CLIP-seq
MIRT1216843	hsa-miR-371b-5p	CLIP-seq
MIRT1216844	hsa-miR-3925-5p	CLIP-seq
MIRT1216845	hsa-miR-3942-5p	CLIP-seq
MIRT1216846	hsa-miR-4287	CLIP-seq
MIRT1216847	hsa-miR-4436b-5p	CLIP-seq
MIRT1216848	hsa-miR-4469	CLIP-seq
MIRT1216849	hsa-miR-4517	CLIP-seq
MIRT1216850	hsa-miR-4667-3p	CLIP-seq
MIRT1216851	hsa-miR-4685-3p	CLIP-seq
MIRT1216852	hsa-miR-4703-5p	CLIP-seq
MIRT1216853	hsa-miR-4713-5p	CLIP-seq
MIRT1216854	hsa-miR-4719	CLIP-seq
MIRT1216855	hsa-miR-4794	CLIP-seq
MIRT1216856	hsa-miR-4799-5p	CLIP-seq
MIRT1216857	hsa-miR-4803	CLIP-seq
MIRT1216858	hsa-miR-486-5p	CLIP-seq
MIRT1216859	hsa-miR-494	CLIP-seq
MIRT1216860	hsa-miR-500a	CLIP-seq
MIRT1216861	hsa-miR-501-5p	CLIP-seq
MIRT1216862	hsa-miR-506	CLIP-seq
MIRT1216863	hsa-miR-513b	CLIP-seq
MIRT1216864	hsa-miR-539	CLIP-seq
MIRT1216865	hsa-miR-548o	CLIP-seq
MIRT1216866	hsa-miR-760	CLIP-seq
MIRT1216829	hsa-miR-802	CLIP-seq
MIRT1216832	hsa-miR-132	CLIP-seq
MIRT2062570	hsa-miR-203	CLIP-seq
MIRT1216836	hsa-miR-212	CLIP-seq
MIRT2062571	hsa-miR-3148	CLIP-seq
MIRT2062572	hsa-miR-3662	CLIP-seq
MIRT2062573	hsa-miR-3919	CLIP-seq
MIRT1216825	hsa-miR-3973	CLIP-seq
MIRT2062574	hsa-miR-4265	CLIP-seq
MIRT2062575	hsa-miR-4296	CLIP-seq
MIRT2062576	hsa-miR-4310	CLIP-seq
MIRT2062577	hsa-miR-4322	CLIP-seq
MIRT2062578	hsa-miR-4772-5p	CLIP-seq
MIRT1216857	hsa-miR-4803	CLIP-seq
MIRT2291019	hsa-miR-34b	CLIP-seq
MIRT2291020	hsa-miR-4705	CLIP-seq
MIRT2291021	hsa-miR-507	CLIP-seq
MIRT2291022	hsa-miR-557	CLIP-seq
MIRT1216821	hsa-miR-141	CLIP-seq
MIRT1216822	hsa-miR-200a	CLIP-seq
MIRT1216824	hsa-miR-3682-3p	CLIP-seq
MIRT1216829	hsa-miR-802	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0007155	Process	Cell adhesion	IBA	21873635
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007420	Process	Brain development	IEA

Other IDs

• MIM: 300460
• HGNC: 14270
• e!Ensembl: ENSG00000165194

Protein

• UniProt ID: Q8TAB3
• Protein name: Protocadherin-19
• Protein function: Calcium-dependent cell-adhesion protein.
• PDB: 6VFU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08266	Cadherin_2	24 → 109	Cadherin-like	Domain
  PF00028	Cadherin	134 → 229	Cadherin domain	Domain
  PF00028	Cadherin	243 → 337	Cadherin domain	Domain
  PF00028	Cadherin	354 → 444	Cadherin domain	Domain
  PF00028	Cadherin	458 → 554	Cadherin domain	Domain
  PF00028	Cadherin	573 → 663	Cadherin domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Moderately expressed in all regions of the brain examined, with lowest levels found in the cerebellum. Moderate expression is also found in ovary, and low expression in all other tissues tested. Also detected in primary skin fibroblast
• Sequence:

  MESLLLPVLLLLAILWTQAAALINLKYSVEEEQRAGTVIANVAKDAREAGFALDPRQASA
  FRVVSNSAPHLVDINPSSGLLVTKQKIDRDLLCRQSPKCIISLEVMSSSMEICVIKVEIK
  DLNDNAPSFPAAQIELEISEAASPGTRIPLDSAYDPDSGSFGVQTYELTPNELFGLEIKT
  RGDGSRFAELVVEKSLDRETQSHYSFRITALDGGDPPRLGTVGLSIKVTDSNDNNPVFSE
  STYAVSVPENSPPNTPVIRLNASDPDEGTNGQVVYSFYGYVNDRTRELFQIDPHSGLVTV
  TGALDYEEGHVYELDVQAKDLGPNSIPAHCKVTVSVLDTNDNPPVINLLSVNSELVEVSE
  SAPPGYVIALVRVSDRDSGLNGRVQCRLLGNVPFRLQEYESFSTILVDGRLDREQHDQYN
  LTIQARDGGVPMLQSAKSFTVLITDENDNHPHFSKPYYQVIVQENNTPGAYLLSVSARDP
  DLGLNGSVSYQIVPSQVRDMPVFTYVSINPNSGDIYALRSFNHEQTKAFEFKVLAKDGGL
  PSLQSNATVRVIILDVNDNTPVITAPPLINGTAEVYIPRNSGIGYLVTVVKAEDYDEGEN
  GRVTYDMTEGDRGFFEIDQVNGEVRTTRTFGESSKSSYELIVVAHDHGKTSLSASALVLI
  YLSPALDAQESMGSVNLSLIFIIALGSIAGILFVTMIFVAIKCKRDNKEIRTYNCSNCLT
  ITCLLGCFIKGQNSKCLHCISVSPISEEQDKKTEEKVSLRGKRIAEYSYGHQKKSSKKKK
  ISKNDIRLVPRDVEETDKMNVVSCSSLTSSLNYFDYHQQTLPLGCRRSESTFLNVENQNT
  RNTSANHIYHHSFNSQGPQQPDLIINGVPLPETENYSFDSNYVNSRAHLIKSSSTFKDLE
  GNSLKDSGHEESDQTDSEHDVQRSLYCDTAVNDVLNTSVTSMGSQMPDHDQNEGFHCREE
  CRILGHSDRCWMPRNPMPIRSKSPEHVRNIIALSIEATAADVEAYDDCGPTKRTFATFGK
  DVSDHPAEERPTLKGKRTVDVTICSPKVNSVIREAGNGCEAISPVTSPLHLKSSLPTKPS
  VSYTIALAPPARDLEQYVNNVNNGPTRPSEAEPRGADSEKVMHEVSPILKEGRNKESPGV
  KRLKDIVL

• Sequence length: 1148

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Developmental regression	Developmental regression	rs1224421127
Epilepsy	Epilepsy, Epilepsy, Cryptogenic, Epilepsy, Rolandic, Awakening Epilepsy	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	18469813, 19214208, 21480887, 29358611
Febrile seizures	Febrile Convulsions	rs121909761, rs121909672, rs121909673, rs121909674, rs1561645243, rs267606837, rs796052510, rs1553553485, rs1554097890, rs1554101202, rs1554098226, rs765574676, rs1045493304
Mental retardation	Severe intellectual disability, Mild Mental Retardation, Moderate intellectual disability, Mental Retardation, X-Linked, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	18469813
Myoclonic epilepsy	Infantile Severe Myoclonic Epilepsy	rs267607103, rs267607104, rs147484110, rs74315442, rs74315443, rs121909346, rs121918622, rs121918623, rs121917954, rs121917955, rs1574272192, rs121918624, rs121918625, rs121918628, rs121918629, rs121918630, rs1574061044, rs121918632, rs397514458, rs397514459, rs386833439, rs386833440, rs386833441, rs796943858, rs386833443, rs398122387, rs121917923, rs121917957, rs121917929, rs121917927, rs121917966, rs121917967, rs121917990, rs121917941, rs121917964, rs121917943, rs121917972, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917974, rs121917945, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917949, rs121917926, rs121917950, rs121917951, rs121917952, rs121917980, rs121917921, rs121917981, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917909, rs121917938, rs121917928, rs121918753, rs121918782, rs121918784, rs121918733, rs121918734, rs121918788, rs121918736, rs121917969, rs121918775, rs121918737, rs121918786, rs121918796, rs121918754, rs121918745, rs121918738, rs121918746, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918797, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918763, rs121918757, rs121918751, rs121918783, rs121918773, rs121918793, rs121918780, rs121918735, rs398123585, rs398123588, rs398123593, rs545986367, rs727504136, rs794726737, rs794726739, rs794726845, rs779614747, rs794726726, rs372098964, rs794726801, rs794726769, rs794726781, rs794726780, rs794726741, rs794726783, rs794726832, rs794726814, rs794726722, rs794726703, rs794726702, rs794726763, rs794726802, rs794726804, rs794726748, rs794726851, rs794726740, rs794726754, rs794726698, rs794726758, rs794726760, rs794726819, rs794726839, rs794726759, rs199727342, rs794726701, rs794726850, rs794726785, rs794726800, rs764037830, rs794726757, rs794726752, rs794726825, rs794726835, rs139300715, rs794726809, rs794726696, rs794726734, rs794726699, rs794726705, rs794726784, rs794726745, rs794726707, rs794726779, rs794726821, rs794726822, rs794726789, rs794726723, rs146878122, rs794726816, rs794726700, rs794726853, rs794726731, rs794726852, rs794726841, rs794726709, rs777939538, rs794726817, rs794726727, rs794726706, rs794726770, rs794726735, rs794726744, rs794726854, rs794726710, rs794726720, rs794726836, rs794726774, rs794726729, rs794726728, rs794726733, rs542420576, rs794726756, rs794726813, rs794726830, rs794726714, rs794726772, rs1696406839, rs794726842, rs794726828, rs794726823, rs794726708, rs794726808, rs794726716, rs121917971, rs794726718, rs794726721, rs794726761, rs794726815, rs794726786, rs794726787, rs794726697, rs794726775, rs794726712, rs794726794, rs794726738, rs794726805, rs767045134, rs794726820, rs794726766, rs794726750, rs794726743, rs794726742, rs794726795, rs794726730, rs794726806, rs794726747, rs794726838, rs794726778, rs794726834, rs794726736, rs794726704, rs794726773, rs794726749, rs794726717, rs794726790, rs794726829, rs794726807, rs794726810, rs121917989, rs794726826, rs794726725, rs794726818, rs794726776, rs794726777, rs794726765, rs794726753, rs794726732, rs794726799, rs794726695, rs794726792, rs794726767, rs794726768, rs794726844, rs794726782, rs794726797, rs794726843, rs794726798, rs794726824, rs794726837, rs794726846, rs794726788, rs794726847, rs794726812, rs794726771, rs794726751, rs773407463, rs794726755, rs794726719, rs794726724, rs794726833, rs794726827, rs1553551314, rs794726840, rs794726849, rs794726764, rs794726803, rs794726831, rs794726711, rs794726793, rs760361423, rs794726796, rs794726762, rs35595680, rs764444350, rs794726848, rs786205214, rs794729200, rs794729207, rs796053029, rs796053014, rs796053010, rs796053004, rs796053001, rs796052973, rs779184118, rs781746113, rs796052961, rs796052957, rs863225037, rs863225036, rs863225035, rs863225034, rs863225033, rs863225032, rs863225030, rs863225038, rs863225031, rs869312670, rs869312684, rs886039430, rs121917959, rs886041980, rs886042528, rs781507889, rs1057517959, rs1057518671, rs1057519533, rs1057519534, rs1057519530, rs1057519531, rs1060502189, rs1064794766, rs748759187, rs368609628, rs1553345874, rs121918795, rs1266877537, rs1553266166, rs1553522321, rs1553543215, rs1553525325, rs1553520530, rs1553544470, rs1553551493, rs1553553462, rs1553560831, rs201966711, rs537026414, rs1559101839, rs1559114303, rs1559149128, rs1553553527, rs1569006250, rs781657502, rs1574370981, rs1366966423, rs1574312497, rs796053036, rs1573949198, rs1573953706, rs1573963975, rs1573973548, rs1573984110, rs1574005699, rs1574007140, rs1574052179, rs1574069132, rs1574166948, rs1574168611, rs1574183148, rs886041292, rs1574208760, rs1574209023, rs1574217232, rs1553545567, rs796053094, rs1574240716, rs1553549471, rs1574264920, rs1574266816, rs1574271602, rs1574271644, rs1574291210, rs1574371141, rs1574371902, rs796052488, rs1581220163, rs1196223064, rs1574182550, rs1573953030, rs1574201555, rs1574281711, rs1696401617, rs1692166604, rs1574006637, rs1689139851, rs1689186812, rs1689309551, rs1689680658, rs1697997770, rs1698732089, rs1698941202, rs1697667767, rs1691073965, rs1698009615	21463275, 22848613, 19214208, 23808377, 23093055
Seizure	Seizure, Febrile, Complex, Complex partial seizures, Generalized seizures, Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Unknown
Disease term	Disease name	Evidence	References	Source
Absence seizure	Atypical absence seizure			ClinVar
Dravet Syndrome	Dravet syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Febrile Encephalopathy	Associate	19214208, 21777234, 33399642
Alcohol Related Disorders	Associate	28669061
Aphasia	Associate	31205075
Autism Spectrum Disorder	Associate	29377098, 32366910, 32722525, 36980870
Autistic Disorder	Associate	21480887, 22946748, 28334947, 29377098, 30653859, 32314541, 33399642, 36980870, 38238304, 39457436
Blast Crisis	Associate	33557955
Body Dysmorphic Disorders	Associate	26993267
Brain Diseases	Associate	19214208, 21480887, 25818041, 29190809, 29866057, 33087045, 38238304, 39457436
Cerebral Palsy	Associate	33557955
Chronobiology Disorders	Associate	29377098
Cluster Headache	Associate	31714027, 32366910
Cognition Disorders	Associate	21480887, 21777234, 26765483, 28334947, 29064093, 33010346, 33399642
Developmental Disabilities	Associate	26993267, 30653859, 39187419, 39457436
Disease	Associate	38238304
Drug Resistant Epilepsy	Associate	21777234, 37956604
Dystonia	Associate	33557955
Epilepsies Myoclonic	Associate	19214208, 21053371, 25218114, 26820223, 39187419
Epilepsies Partial	Associate	27029629, 37390664
Epilepsy	Associate	21053371, 21480887, 21777234, 25218114, 26765483, 26802095, 26820223, 28334947, 28669061, 28837158, 29056246, 29064093, 29190809, 29377098, 29866057, 30185235, 30287595, 30572518, 30653859, 30977854, 31714027, 32314541, 32366910, 32613771, 32682289, 33010346, 33087045, 33262389, 33399642, 34520737, 35441233, 35613587, 35978409, 36870093, 36980870, 37095367, 37956604, 39187419
Epilepsy Absence	Associate	19214208
Epilepsy Benign Neonatal	Associate	29064093
Epilepsy Female Restricted with Mental Retardation	Associate	22932693, 22946748, 26820223, 29377098, 30572518, 32314541, 36980870, 39187419
Epilepsy Partial Motor	Associate	39187419
Epileptic Encephalopathy Early Infantile 3	Associate	33557955, 37482918, 37867425, 38238304
Epileptic Syndromes	Associate	21053371, 25218114, 26765483, 36870093, 38238304
Febrile Seizures Associated with Afebrile Seizures	Associate	21480887
Fever	Associate	21053371, 21480887, 21777234, 28669061, 29064093, 29377098, 29866057, 31714027, 33399642, 37956604
Focal Cortical Dysplasia	Associate	35441233
Generalized Epilepsy With Febrile Seizures Plus Type 1	Associate	21053371
Heredodegenerative Disorders Nervous System	Associate	26450854
Hippocampal Sclerosis	Associate	35441233, 39187419
Hyperkinesis	Associate	38238304
Infections	Associate	21777234
Intellectual Disability	Associate	21053371, 22946748, 25218114, 26820223, 28669061, 29866057, 30572518, 30653859, 31714027, 32314541, 33087045, 33262389, 33399642, 35715422, 36980870, 38238304, 39187419
Intrauterine Growth Retardation Metaphyseal Dysplasia Adrenal Hypoplasia Congenita And Genital Anomalies	Associate	34226156
Language Development Disorders	Associate	19214208
Leukoencephalopathies	Associate	30653859, 39187419
Lymphoproliferative Syndrome X Linked 2	Associate	30653859
Malformations of Cortical Development	Associate	29064093
Mental Disorders	Associate	33399642, 35978409, 38238304
Mental Retardation X Linked with Epilepsy	Associate	35978409
Motor Neuron Disease	Associate	33557955
Movement Disorders	Associate	32314541
Myoclonus	Associate	19214208
Myopathies Structural Congenital	Associate	29064093
Neoplasms	Associate	28334947
Nervous System Diseases	Associate	29866057
Neurodegenerative Diseases	Associate	28837158
Obsessive Compulsive Disorder	Associate	38238304
Pediatric acute onset neuropsychiatric syndrome	Associate	32366910
Post Acute COVID 19 Syndrome	Associate	29866057, 34226156, 39187419
Posterior Leukoencephalopathy Syndrome	Associate	30653859
Psychotic Disorders	Associate	31714027, 39950246
REM Sleep Behavior Disorder	Associate	29377098
Seizures	Associate	19214208, 21053371, 21480887, 22932693, 26765483, 26820223, 28669061, 29064093, 29377098, 29866057, 30572518, 32314541, 32366910, 32682289, 33087045, 33262389, 33399642, 33557955, 35715422, 35978409, 36870093, 37956604, 38238304, 39187419
Seizures Febrile	Associate	33399642
Spasms Infantile	Associate	35715422
Status Epilepticus	Associate	33399642, 35914944
Voice Disorders	Associate	19214208, 28669061, 29866057