GFAP (glial fibrillary acidic protein)

Gene

• Entrez ID: 2670
• Gene name: Glial fibrillary acidic protein
• Gene symbol: GFAP
• Synonyms: ALXDRD
• Chromosome: 17
• Chromosome location: 17q21.31
• Summary: This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocyt

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28932769	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs56679084	C>G	Uncertain-significance, pathogenic, not-provided	Missense variant, coding sequence variant
rs57120761	G>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs57590980	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs57661783	C>A,T	Pathogenic, not-provided	Stop gained, missense variant, coding sequence variant
rs57815192	T>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs58008462	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs58064122	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs58075601	C>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs58536923	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs58645997	C>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs58732244	T>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs59285727	C>A,G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs59565950	C>A,G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs59568967	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs59628143	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs59661476	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs59793293	G>A,C,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs59985777	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs60095124	T>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs60269890	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs60343255	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs60449251	A>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs60551555	A>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs60825166	G>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61060395	A>C,G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61497286	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61622935	G>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61726468	C>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61726470	G>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61726471	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs62635764	C>A	Pathogenic, not-provided	Downstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs62636501	T>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs112611995	G>C	Pathogenic	Intron variant
rs121909717	G>A,C,T	Pathogenic, not-provided	Genic downstream transcript variant, downstream transcript variant, synonymous variant, coding sequence variant, missense variant
rs121909718	C>G	Pathogenic, not-provided	Coding sequence variant, missense variant
rs121909719	C>A	Pathogenic, not-provided	Coding sequence variant, missense variant
rs121909720	G>T	Pathogenic	Coding sequence variant, missense variant
rs267607500	C>G,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607501	CCTT>ACTC	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607502	T>C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607503	G>A	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607504	A>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607505	T>C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607506	A>G,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607507	C>G,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607508	G>A,T	Not-provided, pathogenic	Genic downstream transcript variant, coding sequence variant, downstream transcript variant, missense variant
rs267607509	C>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607510	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs267607511	A>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607512	G>A,C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607513	G>C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607514	C>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607515	A>G,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607516	A>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607517	G>A,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607518	C>A,G,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607519	A>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607520	T>G	Not-provided, pathogenic	Genic downstream transcript variant, coding sequence variant, downstream transcript variant, missense variant
rs267607521	T>A	Not-provided, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs267607523	C>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607525	T>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs267607526	C>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs571151302	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs748860341	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant, intron variant
rs775524073	G>A,T	Likely-pathogenic	3 prime UTR variant, intron variant, synonymous variant, coding sequence variant
rs797044569	C>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs797044570	C>T	Pathogenic	Missense variant, coding sequence variant
rs797044571	C>T	Pathogenic	Missense variant, coding sequence variant
rs797044572	A>G	Pathogenic	Missense variant, coding sequence variant
rs797044573	T>C	Pathogenic	Missense variant, coding sequence variant
rs797044574	T>G	Pathogenic	Missense variant, coding sequence variant
rs797044575	->GCCGCAGCT	Pathogenic	Inframe insertion, coding sequence variant
rs797044576	->CGCAGC	Pathogenic	Inframe insertion, coding sequence variant
rs797044577	A>T	Pathogenic	Missense variant, coding sequence variant
rs797044578	G>A	Pathogenic	Missense variant, coding sequence variant
rs797044579	A>G	Pathogenic	Missense variant, coding sequence variant
rs797044580	CA>AG	Pathogenic	Missense variant, coding sequence variant
rs797044581	C>G	Pathogenic	Missense variant, coding sequence variant
rs797044582	G>T	Pathogenic	Missense variant, coding sequence variant
rs797044583	G>C	Pathogenic	Missense variant, coding sequence variant
rs797044584	->CAAGTG	Pathogenic	Inframe insertion, coding sequence variant
rs797044585	C>G	Pathogenic	Missense variant, coding sequence variant
rs797044586	G>A	Pathogenic	Missense variant, coding sequence variant
rs797044587	G>C	Pathogenic	Coding sequence variant, synonymous variant
rs797044588	T>C	Pathogenic	Missense variant, coding sequence variant
rs797044589	T>G	Pathogenic	Missense variant, coding sequence variant
rs797044590	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs797044591	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant
rs797044592	CAGCTAAC>GAT	Pathogenic	Frameshift variant, terminator codon variant, splice donor variant, 3 prime UTR variant, intron variant
rs1057518685	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518828	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555573462	T>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant
rs1555574517	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1567773470	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1597853099	G>A	Likely-pathogenic	Missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1597864461	G>T	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016984	hsa-miR-335-5p	Microarray	18185580
MIRT733242	hsa-miR-146a-3p	Immunocytochemistry (ICC), Mass spectrometry, qRT-PCR, Western blotting	33968923
MIRT733607	hsa-miR-140-5p	Immunofluorescence, qRT-PCR, Western blotting	33987369
MIRT1016542	hsa-miR-1197	CLIP-seq
MIRT1016543	hsa-miR-1207-5p	CLIP-seq
MIRT1016544	hsa-miR-1285	CLIP-seq
MIRT1016545	hsa-miR-15a	CLIP-seq
MIRT1016546	hsa-miR-15b	CLIP-seq
MIRT1016547	hsa-miR-16	CLIP-seq
MIRT1016548	hsa-miR-195	CLIP-seq
MIRT1016549	hsa-miR-214	CLIP-seq
MIRT1016550	hsa-miR-3153	CLIP-seq
MIRT1016551	hsa-miR-3160-3p	CLIP-seq
MIRT1016552	hsa-miR-3162-5p	CLIP-seq
MIRT1016553	hsa-miR-3187-5p	CLIP-seq
MIRT1016554	hsa-miR-3619-5p	CLIP-seq
MIRT1016555	hsa-miR-3622b-5p	CLIP-seq
MIRT1016556	hsa-miR-3665	CLIP-seq
MIRT1016557	hsa-miR-3921	CLIP-seq
MIRT1016558	hsa-miR-3925-5p	CLIP-seq
MIRT1016559	hsa-miR-3945	CLIP-seq
MIRT1016560	hsa-miR-424	CLIP-seq
MIRT1016561	hsa-miR-4253	CLIP-seq
MIRT1016562	hsa-miR-4270	CLIP-seq
MIRT1016563	hsa-miR-4303	CLIP-seq
MIRT1016564	hsa-miR-4441	CLIP-seq
MIRT1016565	hsa-miR-4487	CLIP-seq
MIRT1016566	hsa-miR-4491	CLIP-seq
MIRT1016567	hsa-miR-4524	CLIP-seq
MIRT1016568	hsa-miR-4653-5p	CLIP-seq
MIRT1016569	hsa-miR-4657	CLIP-seq
MIRT1016570	hsa-miR-4668-5p	CLIP-seq
MIRT1016571	hsa-miR-4736	CLIP-seq
MIRT1016572	hsa-miR-4763-3p	CLIP-seq
MIRT1016573	hsa-miR-4764-5p	CLIP-seq
MIRT1016574	hsa-miR-497	CLIP-seq
MIRT1016575	hsa-miR-503	CLIP-seq
MIRT1016576	hsa-miR-558	CLIP-seq
MIRT1016577	hsa-miR-589	CLIP-seq
MIRT1016578	hsa-miR-612	CLIP-seq
MIRT1016579	hsa-miR-646	CLIP-seq
MIRT1016580	hsa-miR-761	CLIP-seq
MIRT2000900	hsa-miR-1224-3p	CLIP-seq
MIRT2000901	hsa-miR-1260	CLIP-seq
MIRT2000902	hsa-miR-1260b	CLIP-seq
MIRT2000903	hsa-miR-1280	CLIP-seq
MIRT1016545	hsa-miR-15a	CLIP-seq
MIRT1016546	hsa-miR-15b	CLIP-seq
MIRT1016547	hsa-miR-16	CLIP-seq
MIRT1016548	hsa-miR-195	CLIP-seq
MIRT1016549	hsa-miR-214	CLIP-seq
MIRT1016554	hsa-miR-3619-5p	CLIP-seq
MIRT1016560	hsa-miR-424	CLIP-seq
MIRT1016567	hsa-miR-4524	CLIP-seq
MIRT2000904	hsa-miR-4645-5p	CLIP-seq
MIRT2000905	hsa-miR-4673	CLIP-seq
MIRT2000906	hsa-miR-4699-5p	CLIP-seq
MIRT1016574	hsa-miR-497	CLIP-seq
MIRT1016575	hsa-miR-503	CLIP-seq
MIRT1016579	hsa-miR-646	CLIP-seq
MIRT1016580	hsa-miR-761	CLIP-seq
MIRT1016551	hsa-miR-3160-3p	CLIP-seq
MIRT1016565	hsa-miR-4487	CLIP-seq
MIRT2234320	hsa-miR-4663	CLIP-seq
MIRT1016576	hsa-miR-558	CLIP-seq
MIRT2450198	hsa-miR-1275	CLIP-seq
MIRT2450199	hsa-miR-1293	CLIP-seq
MIRT2450200	hsa-miR-3128	CLIP-seq
MIRT2450201	hsa-miR-3189-3p	CLIP-seq
MIRT2450202	hsa-miR-3198	CLIP-seq
MIRT2450203	hsa-miR-4259	CLIP-seq
MIRT2450204	hsa-miR-4309	CLIP-seq
MIRT2450205	hsa-miR-4483	CLIP-seq
MIRT2450206	hsa-miR-4653-3p	CLIP-seq
MIRT2450207	hsa-miR-4665-5p	CLIP-seq
MIRT2450208	hsa-miR-4715-5p	CLIP-seq
MIRT2450209	hsa-miR-4720-5p	CLIP-seq
MIRT2450210	hsa-miR-4731-5p	CLIP-seq
MIRT2450211	hsa-miR-4749-3p	CLIP-seq
MIRT2450212	hsa-miR-4799-3p	CLIP-seq
MIRT2450213	hsa-miR-578	CLIP-seq
MIRT2538396	hsa-miR-1184	CLIP-seq
MIRT2538397	hsa-miR-1205	CLIP-seq
MIRT2538398	hsa-miR-1324	CLIP-seq
MIRT2538399	hsa-miR-3158-5p	CLIP-seq
MIRT2538400	hsa-miR-3166	CLIP-seq
MIRT2538401	hsa-miR-4436b-3p	CLIP-seq
MIRT2538402	hsa-miR-4771	CLIP-seq
MIRT2538396	hsa-miR-1184	CLIP-seq
MIRT2538397	hsa-miR-1205	CLIP-seq
MIRT2538398	hsa-miR-1324	CLIP-seq
MIRT2538399	hsa-miR-3158-5p	CLIP-seq
MIRT2538400	hsa-miR-3166	CLIP-seq
MIRT2538401	hsa-miR-4436b-3p	CLIP-seq
MIRT2538402	hsa-miR-4771	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EP300	Activation	20414733
NFIC	Unknown	19540848
NFKB1	Activation	16516312
NFKB1	Unknown	20471977
RELA	Activation	16516312
RELA	Unknown	20471977
STAT3	Activation	21833841
STAT3	Unknown	11740937

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	2740350
GO:0005515	Function	Protein binding	IPI	16189514, 17500595, 25416956, 25910212, 26871637, 29892012, 31515488, 32296183, 32814053
GO:0005737	Component	Cytoplasm	IDA	12355421
GO:0005764	Component	Lysosome	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IEA
GO:0042802	Function	Identical protein binding	IPI	25416956, 25910212, 32296183
GO:0043254	Process	Regulation of protein-containing complex assembly	TAS	20176123
GO:0045109	Process	Intermediate filament organization	IDA	15732097
GO:0045111	Component	Intermediate filament cytoskeleton	IDA
GO:1904714	Process	Regulation of chaperone-mediated autophagy	ISS
GO:1904714	Process	Regulation of chaperone-mediated autophagy	TAS	20176123

Other IDs

• MIM: 137780
• HGNC: 4235
• e!Ensembl: ENSG00000131095

Protein

• UniProt ID: P14136
• Protein name: Glial fibrillary acidic protein (GFAP)
• Protein function: GFAP, a class-III intermediate filament, is a cell-specific marker that, during the development of the central nervous system, distinguishes astrocytes from other glial cells.
• PDB: 6A9P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04732	Filament_head	1 → 67	Intermediate filament head (DNA binding) region	Family
  PF00038	Filament	68 → 376	Intermediate filament protein	Coiled-coil

• Sequence:

  MERRRITSAARRSYVSSGEMMVGGLAPGRRLGPGTRLSLARMPPPLPTRVDFSLAGALNA
  GFKETRASERAEMMELNDRFASYIEKVRFLEQQNKALAAELNQLRAKEPTKLADVYQAEL
  RELRLRLDQLTANSARLEVERDNLAQDLATVRQKLQDETNLRLEAENNLAAYRQEADEAT
  LARLDLERKIESLEEEIRFLRKIHEEEVRELQEQLARQQVHVELDVAKPDLTAALKEIRT
  QYEAMASSNMHEAEEWYRSKFADLTDAAARNAELLRQAKHEANDYRRQLQSLTCDLESLR
  GTNESLERQMREQEERHVREAASYQEALARLEEEGQSLKDEMARHLQEYQDLLNVKLALD
  IEIATYRKLLEGEENRITIPVQTFSNLQIRETSLDTKSVSEGHLKRNIVVKTVEMRDGEV
  IKESKQEHKDVM

• Sequence length: 432

Pathways

KEGG:

JAK-STAT signaling pathway

Reactome:

Nuclear signaling by ERBB4

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Alexander disease	Alexander Disease, Alexander disease type I, Alexander disease type II	rs58064122, rs59565950, rs121909717, rs59285727, rs59793293, rs61622935, rs57120761, rs58732244, rs121909718, rs121909719, rs28932769, rs121909720, rs267607515, rs267607511, rs62636501, rs58008462, rs58075601, rs267607512, rs61726471, rs60343255, rs57590980, rs267607518, rs267607509, rs61726470, rs267607514, rs267607508, rs797044592, rs797044590, rs797044588, rs797044582, rs797044579, rs797044578, rs61060395, rs797044570, rs1057518685, rs571151302, rs1567773470, rs1597864461, rs1597853099	12581808, 16217707, 18584981, 18054694, 20849398, 15390001, 18217876, 17934883, 12447932, 23743246, 20359319, 11867077, 12638020, 24742911, 19412928, 15675360, 23185175, 23706596, 16996408, 15696488, 11567214, 21041050, 17960815, 15732097, 12026242, 29095329, 22198646, 18653683, 18079314, 11138011, 17043438, 12034785, 18402384, 15465095, 11595337, 17805552, 16168593, 1941292, 18495313, 15030911, 22488673, 14557587, 21917775, 24306001, 21132324, 23254569, 16168595, 21270471, 23903069, 24045243, 24896178, 1250985, 18004641, 24357685, 14550921, 22619055, 12944715, 15477559, 17894839, 17156703, 17383133, 16240361, 12975300, 12368989, 17110673, 22302460, 22818990, 21572052, 24427505, 16505300, 12034796, 17438228, 21822933, 15732098, 23925719, 23149175, 20562394, 23634874, 18388212, 17985264, 17629821, 22566711, 21165639, 24188966, 19672978, 19418047, 19128991, 17509491, 21533827, 23364391, 18581469, 18684770, 17703343, 19618846, 21987397
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis, Guam Form, Amyotrophic Lateral Sclerosis, Familial	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs1885090126, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs749428135, rs371575563, rs1402429085, rs1218712729, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087	11723166, 11796754
Developmental regression	Developmental regression	rs1224421127
Epilepsy	Epilepsy, Epilepsy, Cryptogenic, Awakening Epilepsy	rs113994140, rs119454947, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs1805032, rs387906420, rs121917752, rs121918622, rs121434579, rs1581220270, rs281865564, rs387907313, rs397514564, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777363, rs587777364, 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, rs1554169267, 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	21177194
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Lateral sclerosis	AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic	rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048	11796754
Neuronal ceroid lipofuscinosis	Ceroid lipofuscinosis, neuronal 1, infantile	rs118203975, rs118203976, rs118203977, rs267607235, rs140948465, rs1740291234, rs386833969, rs104894385, rs104894386, rs121908292, rs267606738, rs1555274312, rs119455953, rs119455954, rs119455955, rs56144125, rs119455956, rs28940573, rs119455957, rs119455958, rs104894064, rs28940569, rs104894060, rs137852883, rs1555468634, rs121434286, rs267606737, rs104894483, rs397515352, rs774543080, rs121908080, rs786205067, rs137852695, rs137852696, rs137852697, rs137852698, rs137852699, rs137852700, rs137852701, rs137852702, rs63749877, rs121912789, rs121912790, rs786205105, rs154774634, rs587776892, rs387907246, rs386833624, rs386833626, rs386833625, rs386833627, rs386833628, rs386833629, rs386833630, rs386833632, rs386833633, rs386833634, rs386833635, rs386833636, rs386833637, rs386833638, rs386833641, rs386833642, rs386833643, rs386833644, rs386833645, rs386833646, rs386833647, rs386833648, rs386833649, rs386833650, rs386833651, rs386833652, rs386833653, rs148412181, rs386833654, rs386833655, rs386833656, rs386833657, rs386833658, rs386833659, rs386833660, rs386833661, rs386833663, rs386833664, rs386833665, rs386833666, rs386833667, rs386833668, rs386833669, rs386833671, rs386833694, rs386833695, rs386833696, rs386833697, rs386833698, rs386833699, rs386833700, rs386833701, rs386833702, rs386833703, rs386833704, rs386833705, rs386833706, rs386833707, rs386833708, rs386833709, rs386833710, rs386833712, rs386833713, rs386833714, rs386833715, rs386833717, rs386833720, rs386833721, rs386833722, rs386833724, rs386833725, rs386833726, rs386833728, rs386833729, rs386833730, rs386833731, rs386833732, rs386833735, rs386833736, rs386833737, rs386833739, rs386833740, rs386833741, rs386833742, rs386833743, rs386833744, rs386833963, rs386833964, rs386833965, rs386833966, rs386833967, rs386833970, rs386833971, rs386833972, rs386833973, rs386833974, rs386833975, rs386833978, rs386833979, rs386833980, rs386833981, rs386833982, rs386833983, rs386834123, rs386834124, rs386834125, rs386834126, rs386834128, rs386834130, rs386834132, rs386834133, rs386834135, rs34238807, rs386834138, rs386834139, rs397514731, rs397514732, rs753084727, rs587778809, rs154774640, rs154774639, rs121908197, rs121908198, rs121908199, rs121908200, rs121908201, rs121908203, rs121908202, rs121908195, rs121908204, rs121908205, rs121908209, rs121908207, rs104895127, rs63750411, rs587779397, rs587780315, rs724159970, rs727502800, rs727502801, rs724159971, rs746645358, rs786204553, rs786204753, rs778232650, rs786204644, rs794727955, rs794729218, rs796052925, rs796052923, rs796052927, rs558274487, rs796052752, rs144495588, rs1554901472, rs750428882, rs796053439, rs763162812, rs756564767, rs202189057, rs759080581, rs746085696, rs546989392, rs143781303, rs796052356, rs796052351, rs796052335, rs797045136, rs797045137, rs765097897, rs864309505, rs869025274, rs869312751, rs1085307087, rs878853322, rs878853325, rs878853929, rs878855053, rs878855331, rs553522118, rs748710466, rs886041568, rs886041487, rs886041546, rs1057516575, rs1057516889, rs1057517401, rs1057516447, rs1057517049, rs1057517192, rs1057517368, rs1057517112, rs747204624, rs1057516867, rs1057516582, rs756267448, rs1057516579, rs1057516511, rs1057516264, rs1057516319, rs113019349, rs1057517313, rs1057516945, rs752164603, rs1057516366, rs1057516667, rs1057516814, rs780198002, rs1057517134, rs1057516390, rs764495616, rs750935331, rs1057516677, rs1057516267, rs771788391, rs1057517350, rs1057516335, rs1057517287, rs1057517215, rs1057516343, rs777625354, rs764051026, rs559155109, rs1064796787, rs139842473, rs1064794233, rs181995380, rs1064795153, rs752612332, rs1131691676, rs1131691539, rs1555438255, rs1555058286, rs1555274005, rs1555468632, rs200348035, rs1265044710, rs1439582451, rs751696703, rs761621368, rs143730802, rs1554901580, rs1554902052, rs1553950197, rs200319160, rs143657539, rs1554901523, rs1555274338, rs1555273604, rs1555273881, rs1216139602, rs762226836, rs1553167863, rs1553166135, rs1553166147, rs1553167430, rs1349528345, rs1553166499, rs1553166337, rs1553167415, rs1553167474, rs1553167479, rs1554451504, rs746397087, rs1554449028, rs759830733, rs1554449124, rs554042394, rs1554451484, rs1554448874, rs1554448924, rs1554449047, rs1554449136, rs1554901463, rs1184563885, rs1554902043, rs763961289, rs1407106889, rs1554901576, rs1554901731, rs1424116749, rs1554901784, rs1554902216, rs779615685, rs1554902085, rs764790770, rs1555274343, rs1555274369, rs1555273567, rs1555274365, rs1555273609, rs1555274344, rs1555274373, rs1555274387, rs1451777867, rs762902907, rs756522171, rs1555438212, rs1555438443, rs1555468374, rs1555469452, rs1555467473, rs1418997146, rs1555273882, rs1478660606, rs1555273992, rs1555274014, rs1555274337, rs142456044, rs1555469159, rs758921701, rs1555469089, rs1555469477, rs1554901898, rs1554902217, rs1564855860, rs1564854729, rs1460276679, rs1560776422, rs556661896, rs868732642, rs1564855725, rs1566219136, rs1381427322, rs1557714302, rs1593914689, rs1302326945, rs1570470281, rs1570476221, rs775699005, rs1578912362, rs750162094, rs759664259, rs1589947644, rs1012449574, rs1570467252, rs778875017, rs1578794927, rs1578912759, rs1314967038, rs1465284719, rs1595816465, rs1595816474, rs1596563048, rs1565311875, rs2046113301, rs1578889355, rs776253867, rs1649597261, rs1649901192, rs749315686, rs1801297484, rs764256845, rs1242337070, rs2034349431, rs1380684360, rs1648444864, rs1739594685, rs1736369601, rs1739482158, rs1471253353, rs2046243804, rs1845791308, rs1397197980, rs2046158549	21224254
Parkinson disease	Parkinson Disease	rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	19276553
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	19405953, 15885920
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Amyotrophic lateral sclerosis with dementia	Amyotrophic Lateral Sclerosis With Dementia		11723166
Bipolar disorder	Bipolar Disorder		19488045, 15885920
Lewy body disease	Lewy Body Disease		19276553
Mental depression	Mental Depression, Depressive disorder, Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	11754076, 19000745, 25098258, 18585900, 19000745
Nervous system diseases	Peripheral Nervous System Diseases		10447555
Nervous system disorder	nervous system disorder		9427479, 9634552, 10773198
Neuromyelitis optica	Neuromyelitis Optica		18509235
Spina bifida cystica	Spina Bifida Cystica		8422324
Spina bifida	Spina Bifida, Open		8422324
Trigeminal neuralgia	Trigeminal Neuralgia, Trigeminal Neuralgia, Idiopathic, Secondary Trigeminal Neuralgia		27093858