C9orf72 (C9orf72-SMCR8 complex subunit)

Gene

• Entrez ID: 203228
• Gene name: C9orf72-SMCR8 complex subunit
• Gene symbol: C9orf72
• Synonyms: ALSFTD, DENND9, DENNL72, FTDALS, FTDALS1
• Chromosome: 9
• Chromosome location: 9p21.2
• Summary: The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs143561967	GGCCCCGGCCCC>-,GGCCCC,GGCCCCGGCCCCGGCCCC,GGCCCCGGCCCCGGCCCCGGCCCC,GGCCCCGGCCCCGGCCCCGGCCCCGGCCCC,GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC,GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC,GGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC,GGCCCCGGCCCCGGCCCCGGCCCCGGCCC	Pathogenic	Genic upstream transcript variant, upstream transcript variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021644	hsa-miR-142-3p	Microarray	17612493
MIRT441028	ebv-miR-BART13-3p	HITS-CLIP	22473208
MIRT021644	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT441028	ebv-miR-BART13-3p	HITS-CLIP	22473208
MIRT021644	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT855680	hsa-miR-101	CLIP-seq
MIRT855681	hsa-miR-1183	CLIP-seq
MIRT855682	hsa-miR-144	CLIP-seq
MIRT855683	hsa-miR-146a	CLIP-seq
MIRT855684	hsa-miR-146b-5p	CLIP-seq
MIRT855685	hsa-miR-329	CLIP-seq
MIRT855686	hsa-miR-3607-3p	CLIP-seq
MIRT855687	hsa-miR-362-3p	CLIP-seq
MIRT855688	hsa-miR-3686	CLIP-seq
MIRT855689	hsa-miR-3920	CLIP-seq
MIRT855690	hsa-miR-3941	CLIP-seq
MIRT855691	hsa-miR-4280	CLIP-seq
MIRT855692	hsa-miR-4762-3p	CLIP-seq
MIRT855693	hsa-miR-582-5p	CLIP-seq
MIRT855694	hsa-miR-589	CLIP-seq
MIRT855695	hsa-miR-603	CLIP-seq
MIRT855696	hsa-miR-106a	CLIP-seq
MIRT855697	hsa-miR-106b	CLIP-seq
MIRT855698	hsa-miR-1208	CLIP-seq
MIRT855699	hsa-miR-17	CLIP-seq
MIRT855700	hsa-miR-20a	CLIP-seq
MIRT855701	hsa-miR-20b	CLIP-seq
MIRT855702	hsa-miR-302a	CLIP-seq
MIRT855703	hsa-miR-302b	CLIP-seq
MIRT855704	hsa-miR-302c	CLIP-seq
MIRT855705	hsa-miR-302d	CLIP-seq
MIRT855706	hsa-miR-302e	CLIP-seq
MIRT855707	hsa-miR-3609	CLIP-seq
MIRT855708	hsa-miR-372	CLIP-seq
MIRT855709	hsa-miR-373	CLIP-seq
MIRT855689	hsa-miR-3920	CLIP-seq
MIRT855710	hsa-miR-4263	CLIP-seq
MIRT855692	hsa-miR-4762-3p	CLIP-seq
MIRT855711	hsa-miR-4796-3p	CLIP-seq
MIRT855712	hsa-miR-498	CLIP-seq
MIRT855713	hsa-miR-519a	CLIP-seq
MIRT855714	hsa-miR-519b-3p	CLIP-seq
MIRT855715	hsa-miR-519c-3p	CLIP-seq
MIRT855716	hsa-miR-519d	CLIP-seq
MIRT855717	hsa-miR-520a-3p	CLIP-seq
MIRT855718	hsa-miR-520b	CLIP-seq
MIRT855719	hsa-miR-520c-3p	CLIP-seq
MIRT855720	hsa-miR-520d-3p	CLIP-seq
MIRT855721	hsa-miR-520e	CLIP-seq
MIRT855722	hsa-miR-520f	CLIP-seq
MIRT855723	hsa-miR-548ah	CLIP-seq
MIRT855724	hsa-miR-656	CLIP-seq
MIRT855725	hsa-miR-93	CLIP-seq
MIRT1954236	hsa-miR-3065-5p	CLIP-seq
MIRT1954237	hsa-miR-3163	CLIP-seq
MIRT855710	hsa-miR-4263	CLIP-seq
MIRT1954238	hsa-miR-451b	CLIP-seq
MIRT1954239	hsa-miR-4643	CLIP-seq
MIRT1954240	hsa-miR-548an	CLIP-seq
MIRT1954241	hsa-miR-576-5p	CLIP-seq
MIRT855702	hsa-miR-302a	CLIP-seq
MIRT855703	hsa-miR-302b	CLIP-seq
MIRT855704	hsa-miR-302c	CLIP-seq
MIRT855705	hsa-miR-302d	CLIP-seq
MIRT855706	hsa-miR-302e	CLIP-seq
MIRT855708	hsa-miR-372	CLIP-seq
MIRT855709	hsa-miR-373	CLIP-seq
MIRT855717	hsa-miR-520a-3p	CLIP-seq
MIRT855718	hsa-miR-520b	CLIP-seq
MIRT855719	hsa-miR-520c-3p	CLIP-seq
MIRT855720	hsa-miR-520d-3p	CLIP-seq
MIRT855721	hsa-miR-520e	CLIP-seq
MIRT2191697	hsa-miR-1244	CLIP-seq
MIRT2191698	hsa-miR-199a-3p	CLIP-seq
MIRT2191699	hsa-miR-199b-3p	CLIP-seq
MIRT1954236	hsa-miR-3065-5p	CLIP-seq
MIRT2191700	hsa-miR-3129-5p	CLIP-seq
MIRT2191701	hsa-miR-3613-3p	CLIP-seq
MIRT1954238	hsa-miR-451b	CLIP-seq
MIRT2191702	hsa-miR-4703-3p	CLIP-seq
MIRT2495293	hsa-miR-124	CLIP-seq
MIRT2191697	hsa-miR-1244	CLIP-seq
MIRT2495294	hsa-miR-1273e	CLIP-seq
MIRT2495295	hsa-miR-1915	CLIP-seq
MIRT2191698	hsa-miR-199a-3p	CLIP-seq
MIRT2191699	hsa-miR-199b-3p	CLIP-seq
MIRT2495296	hsa-miR-24	CLIP-seq
MIRT2495297	hsa-miR-30a	CLIP-seq
MIRT2495298	hsa-miR-30b	CLIP-seq
MIRT2495299	hsa-miR-30c	CLIP-seq
MIRT2495300	hsa-miR-30d	CLIP-seq
MIRT2495301	hsa-miR-30e	CLIP-seq
MIRT2191700	hsa-miR-3129-5p	CLIP-seq
MIRT2495302	hsa-miR-3173-3p	CLIP-seq
MIRT2495303	hsa-miR-320a	CLIP-seq
MIRT2495304	hsa-miR-320b	CLIP-seq
MIRT2495305	hsa-miR-320c	CLIP-seq
MIRT2495306	hsa-miR-320d	CLIP-seq
MIRT2191701	hsa-miR-3613-3p	CLIP-seq
MIRT2495307	hsa-miR-3647-3p	CLIP-seq
MIRT2495308	hsa-miR-3689d	CLIP-seq
MIRT2495309	hsa-miR-3691-3p	CLIP-seq
MIRT2495310	hsa-miR-371b-5p	CLIP-seq
MIRT2495311	hsa-miR-3908	CLIP-seq
MIRT2495312	hsa-miR-3942-5p	CLIP-seq
MIRT2495313	hsa-miR-3973	CLIP-seq
MIRT855710	hsa-miR-4263	CLIP-seq
MIRT2495314	hsa-miR-4284	CLIP-seq
MIRT2495315	hsa-miR-4428	CLIP-seq
MIRT2495316	hsa-miR-4429	CLIP-seq
MIRT2495317	hsa-miR-4459	CLIP-seq
MIRT2495318	hsa-miR-4495	CLIP-seq
MIRT2495319	hsa-miR-4509	CLIP-seq
MIRT2495320	hsa-miR-4521	CLIP-seq
MIRT2495321	hsa-miR-4539	CLIP-seq
MIRT1954239	hsa-miR-4643	CLIP-seq
MIRT2495322	hsa-miR-4661-3p	CLIP-seq
MIRT2495323	hsa-miR-4662a-3p	CLIP-seq
MIRT2495324	hsa-miR-4686	CLIP-seq
MIRT2191702	hsa-miR-4703-3p	CLIP-seq
MIRT2495325	hsa-miR-4703-5p	CLIP-seq
MIRT2495326	hsa-miR-4726-3p	CLIP-seq
MIRT2495327	hsa-miR-4744	CLIP-seq
MIRT2495328	hsa-miR-4760-5p	CLIP-seq
MIRT2495329	hsa-miR-4766-3p	CLIP-seq
MIRT2495330	hsa-miR-4775	CLIP-seq
MIRT2495331	hsa-miR-4793-5p	CLIP-seq
MIRT2495332	hsa-miR-4795-3p	CLIP-seq
MIRT2495333	hsa-miR-4799-5p	CLIP-seq
MIRT855712	hsa-miR-498	CLIP-seq
MIRT2495334	hsa-miR-506	CLIP-seq
MIRT1954240	hsa-miR-548an	CLIP-seq
MIRT1954241	hsa-miR-576-5p	CLIP-seq
MIRT2495335	hsa-miR-605	CLIP-seq
MIRT2495336	hsa-miR-607	CLIP-seq
MIRT2495337	hsa-miR-642b	CLIP-seq
MIRT855681	hsa-miR-1183	CLIP-seq
MIRT2495293	hsa-miR-124	CLIP-seq
MIRT2191697	hsa-miR-1244	CLIP-seq
MIRT2495294	hsa-miR-1273e	CLIP-seq
MIRT855683	hsa-miR-146a	CLIP-seq
MIRT855684	hsa-miR-146b-5p	CLIP-seq
MIRT2495295	hsa-miR-1915	CLIP-seq
MIRT2191698	hsa-miR-199a-3p	CLIP-seq
MIRT2191699	hsa-miR-199b-3p	CLIP-seq
MIRT2495296	hsa-miR-24	CLIP-seq
MIRT2495297	hsa-miR-30a	CLIP-seq
MIRT2495298	hsa-miR-30b	CLIP-seq
MIRT2495299	hsa-miR-30c	CLIP-seq
MIRT2495300	hsa-miR-30d	CLIP-seq
MIRT2495301	hsa-miR-30e	CLIP-seq
MIRT2191700	hsa-miR-3129-5p	CLIP-seq
MIRT2677167	hsa-miR-3155	CLIP-seq
MIRT2677168	hsa-miR-3155b	CLIP-seq
MIRT2495302	hsa-miR-3173-3p	CLIP-seq
MIRT2495303	hsa-miR-320a	CLIP-seq
MIRT2495304	hsa-miR-320b	CLIP-seq
MIRT2495305	hsa-miR-320c	CLIP-seq
MIRT2495306	hsa-miR-320d	CLIP-seq
MIRT2191701	hsa-miR-3613-3p	CLIP-seq
MIRT2495307	hsa-miR-3647-3p	CLIP-seq
MIRT2495308	hsa-miR-3689d	CLIP-seq
MIRT2495309	hsa-miR-3691-3p	CLIP-seq
MIRT2495310	hsa-miR-371b-5p	CLIP-seq
MIRT2495311	hsa-miR-3908	CLIP-seq
MIRT2677169	hsa-miR-3913-3p	CLIP-seq
MIRT2495312	hsa-miR-3942-5p	CLIP-seq
MIRT2495313	hsa-miR-3973	CLIP-seq
MIRT855710	hsa-miR-4263	CLIP-seq
MIRT2495314	hsa-miR-4284	CLIP-seq
MIRT2495315	hsa-miR-4428	CLIP-seq
MIRT2495316	hsa-miR-4429	CLIP-seq
MIRT2677170	hsa-miR-4438	CLIP-seq
MIRT2495317	hsa-miR-4459	CLIP-seq
MIRT2495318	hsa-miR-4495	CLIP-seq
MIRT2495319	hsa-miR-4509	CLIP-seq
MIRT2495320	hsa-miR-4521	CLIP-seq
MIRT2495321	hsa-miR-4539	CLIP-seq
MIRT1954239	hsa-miR-4643	CLIP-seq
MIRT2495322	hsa-miR-4661-3p	CLIP-seq
MIRT2495323	hsa-miR-4662a-3p	CLIP-seq
MIRT2495324	hsa-miR-4686	CLIP-seq
MIRT2191702	hsa-miR-4703-3p	CLIP-seq
MIRT2495325	hsa-miR-4703-5p	CLIP-seq
MIRT2495326	hsa-miR-4726-3p	CLIP-seq
MIRT2495327	hsa-miR-4744	CLIP-seq
MIRT2495328	hsa-miR-4760-5p	CLIP-seq
MIRT2495329	hsa-miR-4766-3p	CLIP-seq
MIRT2495330	hsa-miR-4775	CLIP-seq
MIRT2495331	hsa-miR-4793-5p	CLIP-seq
MIRT2495332	hsa-miR-4795-3p	CLIP-seq
MIRT2495333	hsa-miR-4799-5p	CLIP-seq
MIRT2677171	hsa-miR-484	CLIP-seq
MIRT2677172	hsa-miR-489	CLIP-seq
MIRT855712	hsa-miR-498	CLIP-seq
MIRT2495334	hsa-miR-506	CLIP-seq
MIRT2677173	hsa-miR-513a-5p	CLIP-seq
MIRT1954240	hsa-miR-548an	CLIP-seq
MIRT1954241	hsa-miR-576-5p	CLIP-seq
MIRT2677174	hsa-miR-581	CLIP-seq
MIRT855694	hsa-miR-589	CLIP-seq
MIRT2495335	hsa-miR-605	CLIP-seq
MIRT2495336	hsa-miR-607	CLIP-seq
MIRT2495337	hsa-miR-642b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000932	Component	P-body	IDA	27037575
GO:0001933	Process	Negative regulation of protein phosphorylation	IMP	27723745
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	27103069, 27617292
GO:0005515	Function	Protein binding	IPI	21516116, 24549040, 25416956, 27103069, 27107012, 27559131, 28195531, 32296183
GO:0005615	Component	Extracellular space	IDA	24549040
GO:0005634	Component	Nucleus	IDA	24549040, 27037575
GO:0005737	Component	Cytoplasm	IDA	27037575, 27193190
GO:0005764	Component	Lysosome	IDA	24549040, 27559131
GO:0005768	Component	Endosome	IBA	21873635
GO:0005768	Component	Endosome	IDA	24549040
GO:0005776	Component	Autophagosome	IBA	21873635
GO:0005776	Component	Autophagosome	IDA	24549040
GO:0005829	Component	Cytosol	IDA
GO:0006897	Process	Endocytosis	IBA	21873635
GO:0006897	Process	Endocytosis	IMP	24549040
GO:0006914	Process	Autophagy	IBA	21873635
GO:0006914	Process	Autophagy	IMP	24549040
GO:0010494	Component	Cytoplasmic stress granule	IDA	27037575
GO:0010506	Process	Regulation of autophagy	IMP	27103069
GO:0016239	Process	Positive regulation of macroautophagy	IGI	27103069
GO:0016239	Process	Positive regulation of macroautophagy	IMP	27103069, 27334615
GO:0030425	Component	Dendrite	IEA
GO:0031267	Function	Small GTPase binding	IDA	24549040
GO:0031965	Component	Nuclear membrane	IEA
GO:0032045	Component	Guanyl-nucleotide exchange factor complex	IDA	27103069
GO:0034063	Process	Stress granule assembly	IMP	27037575
GO:0043204	Component	Perikaryon	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0044295	Component	Axonal growth cone	IDA	27723745
GO:0044304	Component	Main axon	IDA	27723745
GO:0048675	Process	Axon extension	IMP	27723745
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:0090543	Component	Flemming body	IDA
GO:0110053	Process	Regulation of actin filament organization	IMP	27723745
GO:1902774	Process	Late endosome to lysosome transport	ISS
GO:1903432	Process	Regulation of TORC1 signaling	IMP	27559131
GO:1990316	Component	Atg1/ULK1 kinase complex	IDA	27193190
GO:2000785	Process	Regulation of autophagosome assembly	IMP	27334615

Other IDs

• MIM: 614260
• HGNC: 28337
• e!Ensembl: ENSG00000147894

Protein

• UniProt ID: Q96LT7
• Protein name: Guanine nucleotide exchange factor C9orf72
• Protein function: Acts as a guanine-nucleotide releasing factor (GEF) for Rab GTPases by promoting the conversion of inactive RAB-GDP to the active form RAB-GTP (PubMed:27103069, PubMed:27193190, PubMed:27617292, PubMed:28195531, PubMed:37821429). Acts as a GEF f
• PDB: 6LT0, 6V4U, 7MGE, 7O2W
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15019	C9orf72-like	61 → 324	C9orf72-like protein family	Family

• Sequence:

  MSTLCPPPSPAVAKTEIALSGKSPLLAATFAYWDNILGPRVRHIWAPKTEQVLLSDGEIT
  FLANHTLNGEILRNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDRSTYGLSIILPQTE
  LSFYLPLHRVCVDRLTHIIRKGRIWMHKERQENVQKIILEGTERMEDQGQSIIPMLTGEV
  IPVMELLSSMKSHSVPEEIDIADTVLNDDDIGDSCHEGFLLNAISSHLQTCGCSVVVGSS
  AEKVNKIVRTLCLFLTPAERKCSRLCEAESSFKYESGLFVQGLLKDSTGSFVLPFRQVMY
  APYPTTHIDVDVNTVKQMPPCHEHIYNQRRYMRSELTAFWRATSEEDMAQDTIIYTDESF
  TPDLNIFQDVLHRDTLVKAFLDQVFQLKPGLSLRSTFLAQFLLVLHRKALTLIKYIEDDT
  QKGKKPFKSLRNLKIDLDLTAEGDLNIIMALAEKIKPGLHSFIFGRPFYTSVQERDVLMT
  F

• Sequence length: 481

Pathways

KEGG:

Autophagy - animal
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis, Guam Form, AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder), AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	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	20801717, 19734901, 20801718, 22959728, 25326098, 27455348, 23587638, 24085347, 29566793, 27713094, 23597494, 24931836, 27713094, 24256812, 28931804, 28931804, 24256812
Apraxia	Apraxias	rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Arthritis	Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	19565504
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Frontotemporal dementia	Frontotemporal dementia, Frontotemporal Lobar Degeneration	rs63751273, rs63750376, rs63750424, rs63750972, rs1568327531, rs63750570, rs63750756, rs63751165, rs63750512, rs63751438, rs63750912, rs63750711, rs63750635, rs63750349, rs63750092, rs63749801, rs63751399, rs199476352, rs63751035, rs63749974, rs63750568, rs63750013, rs63751394, rs63750308, rs63751011, rs63750095, rs794729672, rs794729669, rs63749817, rs794729670, rs193026789, rs794729671, rs1085307051, rs1566630811, rs1566630884, rs1567885658, rs1567886206, rs1567886445, rs1567886478, rs1567887015, rs1567887777, rs1567888461, rs1566630791, rs1598408073, rs1570725499, rs1598408336	23597494, 25326098, 27713094
Huntington disease-like	Huntington disease-like syndrome due to C9ORF72 expansions	rs193922906, rs74315401, rs28933385, rs74315403, rs74315405, rs74315406, rs74315411, rs74315410, rs74315412, rs80356711
Lateral sclerosis	AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic	rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048	28931804, 24256812, 24256812, 28931804
Parkinson disease	Parkinsonian Disorders	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
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	24387986, 23036583
Seizure	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 name	Disease term	dbSNP ID	References
Abulia	Abulia
Alexia	Alexia
Amyotrophic lateral sclerosis with dementia	Amyotrophic Lateral Sclerosis With Dementia		27713094
Amyotrophy	Generalized amyotrophy
Anomia	Anomia
Anxiety disorder	Anxiety
Aphasia	Aphasia
Behavioral variant of frontotemporal dementia	Behavioral variant of frontotemporal dementia		23392204, 23597030
Brain atrophy	Brain atrophy
Broca aphasia	Broca Aphasia
Bulbar palsy	Bulbar palsy
Cerebral atrophy	Cerebral atrophy
Compulsive hoarding	Compulsive hoarding
Delusions	Delusions
Dementia	Dementia
Dysarthria	Dysarthria
Dyscalculia	Dyscalculia
Dysgraphia	Dysgraphia
Dyslexia	Dyslexia
Dysphagia	Deglutition Disorders
Dysphasia	Dysphasia
Extrapyramidal dyskinesia	Extrapyramidal dyskinesia
Frontotemporal cerebral atrophy	Frontotemporal cerebral atrophy
Frontotemporal dementia with motor neuron disease	Frontotemporal Dementia With Motor Neuron Disease		23597494, 23597030, 26769963, 25326098
Grammar-specific speech disorder	Grammar-specific speech disorder
Hallucinations	Hallucinations
Juvenile arthritis	Juvenile psoriatic arthritis		19565504
Laryngospasm	Laryngospasm
Mental depression	Depressive disorder	rs587778876, rs587778877
Mood swings	Mood swings
Nonorganic psychosis	Nonorganic psychosis		23036583, 24077574, 23473366
Seronegative polyarthritis	Polyarthritis, Juvenile, Rheumatoid Factor Negative		19565504
Polyarthritis, rheumatoid factor positive	Polyarthritis, Juvenile, Rheumatoid Factor Positive		19565504
Nonfluent aphasia	Primary Progressive Nonfluent Aphasia		23597030
Progressive non-fluent aphasia	Progressive non-fluent aphasia
Psychosis	Psychotic Disorders		23473366, 23036583, 24077574
Ptosis	Blepharoptosis, Ptosis	rs139920573
Respiratory failure	Respiratory Failure
Schizoaffective disorder	Schizoaffective Disorder		24387986
Semantic dementia	Semantic Dementia		23597030
Senile plaques	Senile Plaques
Sensorineural hearing loss	Sensorineural hearing loss, bilateral
Stereotyped behavior	Stereotyped Behavior
Still disease	Juvenile-Onset Still Disease		19565504
Temporal cortical atrophy	Temporal cortical atrophy