TMLHE (trimethyllysine hydroxylase, epsilon)

Gene

• Entrez ID: 55217
• Gene name: Trimethyllysine hydroxylase, epsilon
• Gene symbol: TMLHE
• Synonyms (NCBI Gene): AUTSX6, BBOX2, TMLD, TMLH, TMLHED, XAP130
• Disease Acronyms (UniProt): AUTSX6
• Chromosome: X
• Chromosome location: Xq28
• Summary: This gene encodes the protein trimethyllysine dioxygenase which is the first enzyme in the carnitine biosynthesis pathway. Carnitine play an essential role in the transport of activated fatty acids across the inner mitochondrial membrane. The encoded prot

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs781889971	G>A	Uncertain-significance, risk-factor	Stop gained, coding sequence variant, non coding transcript variant
rs782624357	AT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant
rs782785654	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs782792356	T>C	Pathogenic	Splice acceptor variant
rs869320708	C>G	Risk-factor	Missense variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT723259	hsa-miR-548ac	HITS-CLIP	19536157
MIRT723258	hsa-miR-548bb-3p	HITS-CLIP	19536157
MIRT723257	hsa-miR-548d-3p	HITS-CLIP	19536157
MIRT723256	hsa-miR-548h-3p	HITS-CLIP	19536157
MIRT723255	hsa-miR-548z	HITS-CLIP	19536157
MIRT723254	hsa-miR-548ae-3p	HITS-CLIP	19536157
MIRT723253	hsa-miR-548ah-3p	HITS-CLIP	19536157
MIRT723252	hsa-miR-548aj-3p	HITS-CLIP	19536157
MIRT723251	hsa-miR-548am-3p	HITS-CLIP	19536157
MIRT723250	hsa-miR-548aq-3p	HITS-CLIP	19536157
MIRT723249	hsa-miR-548j-3p	HITS-CLIP	19536157
MIRT723248	hsa-miR-548x-3p	HITS-CLIP	19536157
MIRT529812	hsa-miR-3163	HITS-CLIP	19536157
MIRT723247	hsa-miR-1285-5p	HITS-CLIP	19536157
MIRT723246	hsa-miR-342-3p	HITS-CLIP	19536157
MIRT723245	hsa-miR-494-3p	HITS-CLIP	19536157
MIRT647170	hsa-miR-5692a	HITS-CLIP	23824327
MIRT647169	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT647168	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT647167	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT647166	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT647165	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT647164	hsa-miR-3671	HITS-CLIP	23824327
MIRT647163	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT647162	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT529803	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT647161	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT647160	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT529819	hsa-miR-548a-3p	PAR-CLIP	22012620
MIRT529818	hsa-miR-548ar-3p	PAR-CLIP	22012620
MIRT529817	hsa-miR-548az-3p	PAR-CLIP	22012620
MIRT529816	hsa-miR-548e-3p	PAR-CLIP	22012620
MIRT529815	hsa-miR-548f-3p	PAR-CLIP	22012620
MIRT529814	hsa-miR-5582-3p	PAR-CLIP	22012620
MIRT529813	hsa-miR-660-5p	PAR-CLIP	22012620
MIRT529812	hsa-miR-3163	PAR-CLIP	22012620
MIRT529811	hsa-miR-664a-3p	PAR-CLIP	22012620
MIRT529810	hsa-miR-4729	PAR-CLIP	22012620
MIRT529809	hsa-miR-4742-3p	PAR-CLIP	22012620
MIRT529808	hsa-miR-496	PAR-CLIP	22012620
MIRT529807	hsa-miR-340-5p	PAR-CLIP	22012620
MIRT529806	hsa-miR-5696	PAR-CLIP	22012620
MIRT529805	hsa-miR-579-3p	PAR-CLIP	22012620
MIRT529804	hsa-miR-664b-3p	PAR-CLIP	22012620
MIRT529803	hsa-miR-6875-3p	PAR-CLIP	22012620
MIRT735786	hsa-miR-15b-5p	Western blotting, qRT-PCR	32606425
MIRT737529	hsa-miR-15b-3p	Western blotting, RNA-seq, qRT-PCR	32606425
MIRT723259	hsa-miR-548ac	HITS-CLIP	19536157
MIRT723258	hsa-miR-548bb-3p	HITS-CLIP	19536157
MIRT723257	hsa-miR-548d-3p	HITS-CLIP	19536157
MIRT723256	hsa-miR-548h-3p	HITS-CLIP	19536157
MIRT723255	hsa-miR-548z	HITS-CLIP	19536157
MIRT723254	hsa-miR-548ae-3p	HITS-CLIP	19536157
MIRT723253	hsa-miR-548ah-3p	HITS-CLIP	19536157
MIRT723252	hsa-miR-548aj-3p	HITS-CLIP	19536157
MIRT723251	hsa-miR-548am-3p	HITS-CLIP	19536157
MIRT723250	hsa-miR-548aq-3p	HITS-CLIP	19536157
MIRT723249	hsa-miR-548j-3p	HITS-CLIP	19536157
MIRT723248	hsa-miR-548x-3p	HITS-CLIP	19536157
MIRT529812	hsa-miR-3163	HITS-CLIP	19536157
MIRT723247	hsa-miR-1285-5p	HITS-CLIP	19536157
MIRT723246	hsa-miR-342-3p	HITS-CLIP	19536157
MIRT723245	hsa-miR-494-3p	HITS-CLIP	19536157
MIRT647170	hsa-miR-5692a	HITS-CLIP	23824327
MIRT647169	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT647168	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT647167	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT647166	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT647165	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT647164	hsa-miR-3671	HITS-CLIP	23824327
MIRT647163	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT647162	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT529803	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT647161	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT647160	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT529819	hsa-miR-548a-3p	PAR-CLIP	22012620
MIRT529818	hsa-miR-548ar-3p	PAR-CLIP	22012620
MIRT529817	hsa-miR-548az-3p	PAR-CLIP	22012620
MIRT529816	hsa-miR-548e-3p	PAR-CLIP	22012620
MIRT529815	hsa-miR-548f-3p	PAR-CLIP	22012620
MIRT529814	hsa-miR-5582-3p	PAR-CLIP	22012620
MIRT529813	hsa-miR-660-5p	PAR-CLIP	22012620
MIRT529812	hsa-miR-3163	PAR-CLIP	22012620
MIRT529811	hsa-miR-664a-3p	PAR-CLIP	22012620
MIRT529810	hsa-miR-4729	PAR-CLIP	22012620
MIRT529809	hsa-miR-4742-3p	PAR-CLIP	22012620
MIRT529808	hsa-miR-496	PAR-CLIP	22012620
MIRT529807	hsa-miR-340-5p	PAR-CLIP	22012620
MIRT529806	hsa-miR-5696	PAR-CLIP	22012620
MIRT529805	hsa-miR-579-3p	PAR-CLIP	22012620
MIRT529804	hsa-miR-664b-3p	PAR-CLIP	22012620
MIRT529803	hsa-miR-6875-3p	PAR-CLIP	22012620
MIRT1440060	hsa-miR-103b	CLIP-seq
MIRT1440061	hsa-miR-1252	CLIP-seq
MIRT1440062	hsa-miR-125a-5p	CLIP-seq
MIRT1440063	hsa-miR-125b	CLIP-seq
MIRT1440064	hsa-miR-1275	CLIP-seq
MIRT1440065	hsa-miR-129-3p	CLIP-seq
MIRT1440066	hsa-miR-146b-3p	CLIP-seq
MIRT1440067	hsa-miR-153	CLIP-seq
MIRT1440068	hsa-miR-15a	CLIP-seq
MIRT1440069	hsa-miR-15b	CLIP-seq
MIRT1440070	hsa-miR-16	CLIP-seq
MIRT1440071	hsa-miR-186	CLIP-seq
MIRT1440072	hsa-miR-195	CLIP-seq
MIRT1440073	hsa-miR-200b	CLIP-seq
MIRT1440074	hsa-miR-200c	CLIP-seq
MIRT1440075	hsa-miR-203	CLIP-seq
MIRT1440076	hsa-miR-224	CLIP-seq
MIRT1440077	hsa-miR-2681	CLIP-seq
MIRT1440078	hsa-miR-3121-5p	CLIP-seq
MIRT1440079	hsa-miR-3133	CLIP-seq
MIRT1440080	hsa-miR-3177-5p	CLIP-seq
MIRT1440081	hsa-miR-3187-3p	CLIP-seq
MIRT1440082	hsa-miR-3200-5p	CLIP-seq
MIRT1440083	hsa-miR-338-5p	CLIP-seq
MIRT1440084	hsa-miR-3651	CLIP-seq
MIRT1440085	hsa-miR-3689d	CLIP-seq
MIRT1440086	hsa-miR-371-5p	CLIP-seq
MIRT1440087	hsa-miR-371b-5p	CLIP-seq
MIRT1440088	hsa-miR-3973	CLIP-seq
MIRT1440089	hsa-miR-3978	CLIP-seq
MIRT1440090	hsa-miR-424	CLIP-seq
MIRT1440091	hsa-miR-4261	CLIP-seq
MIRT1440092	hsa-miR-429	CLIP-seq
MIRT1440093	hsa-miR-4319	CLIP-seq
MIRT1440094	hsa-miR-4426	CLIP-seq
MIRT1440095	hsa-miR-4427	CLIP-seq
MIRT1440096	hsa-miR-4428	CLIP-seq
MIRT1440097	hsa-miR-4446-5p	CLIP-seq
MIRT1440098	hsa-miR-4499	CLIP-seq
MIRT1440099	hsa-miR-4503	CLIP-seq
MIRT1440100	hsa-miR-4513	CLIP-seq
MIRT1440101	hsa-miR-4529-5p	CLIP-seq
MIRT1440102	hsa-miR-4641	CLIP-seq
MIRT1440103	hsa-miR-4647	CLIP-seq
MIRT1440104	hsa-miR-4662b	CLIP-seq
MIRT1440105	hsa-miR-4665-5p	CLIP-seq
MIRT1440106	hsa-miR-4680-3p	CLIP-seq
MIRT1440107	hsa-miR-4684-3p	CLIP-seq
MIRT1440108	hsa-miR-4687-5p	CLIP-seq
MIRT1440109	hsa-miR-4723-5p	CLIP-seq
MIRT1440110	hsa-miR-4728-3p	CLIP-seq
MIRT1440111	hsa-miR-4732-3p	CLIP-seq
MIRT1440112	hsa-miR-4755-5p	CLIP-seq
MIRT1440113	hsa-miR-4768-5p	CLIP-seq
MIRT1440114	hsa-miR-4771	CLIP-seq
MIRT1440115	hsa-miR-497	CLIP-seq
MIRT1440116	hsa-miR-499a-5p	CLIP-seq
MIRT1440117	hsa-miR-513a-3p	CLIP-seq
MIRT1440118	hsa-miR-513c	CLIP-seq
MIRT1440119	hsa-miR-514b-5p	CLIP-seq
MIRT1440120	hsa-miR-518a-5p	CLIP-seq
MIRT1440121	hsa-miR-520g	CLIP-seq
MIRT1440122	hsa-miR-520h	CLIP-seq
MIRT1440123	hsa-miR-527	CLIP-seq
MIRT1440124	hsa-miR-576-3p	CLIP-seq
MIRT1440125	hsa-miR-635	CLIP-seq
MIRT1440126	hsa-miR-670	CLIP-seq
MIRT2131781	hsa-miR-1224-3p	CLIP-seq
MIRT1440062	hsa-miR-125a-5p	CLIP-seq
MIRT1440063	hsa-miR-125b	CLIP-seq
MIRT2131782	hsa-miR-1260	CLIP-seq
MIRT2131783	hsa-miR-1260b	CLIP-seq
MIRT2131784	hsa-miR-1266	CLIP-seq
MIRT2131785	hsa-miR-1280	CLIP-seq
MIRT2131786	hsa-miR-1289	CLIP-seq
MIRT2131787	hsa-miR-182	CLIP-seq
MIRT2131788	hsa-miR-185	CLIP-seq
MIRT2131789	hsa-miR-188-3p	CLIP-seq
MIRT2131790	hsa-miR-188-5p	CLIP-seq
MIRT1440073	hsa-miR-200b	CLIP-seq
MIRT1440074	hsa-miR-200c	CLIP-seq
MIRT2131791	hsa-miR-21	CLIP-seq
MIRT2131792	hsa-miR-2116	CLIP-seq
MIRT2131793	hsa-miR-218	CLIP-seq
MIRT2131794	hsa-miR-3156-3p	CLIP-seq
MIRT2131795	hsa-miR-3182	CLIP-seq
MIRT1440082	hsa-miR-3200-5p	CLIP-seq
MIRT1440083	hsa-miR-338-5p	CLIP-seq
MIRT2131796	hsa-miR-3664-3p	CLIP-seq
MIRT2131797	hsa-miR-3914	CLIP-seq
MIRT2131798	hsa-miR-4270	CLIP-seq
MIRT1440092	hsa-miR-429	CLIP-seq
MIRT2131799	hsa-miR-4306	CLIP-seq
MIRT1440093	hsa-miR-4319	CLIP-seq
MIRT1440095	hsa-miR-4427	CLIP-seq
MIRT2131800	hsa-miR-4433	CLIP-seq
MIRT2131801	hsa-miR-4441	CLIP-seq
MIRT2131802	hsa-miR-4459	CLIP-seq
MIRT2131803	hsa-miR-4518	CLIP-seq
MIRT2131804	hsa-miR-4644	CLIP-seq
MIRT2131805	hsa-miR-4677-5p	CLIP-seq
MIRT1440106	hsa-miR-4680-3p	CLIP-seq
MIRT1440111	hsa-miR-4732-3p	CLIP-seq
MIRT2131806	hsa-miR-4761-5p	CLIP-seq
MIRT2131807	hsa-miR-4762-5p	CLIP-seq
MIRT2131808	hsa-miR-4768-3p	CLIP-seq
MIRT2131809	hsa-miR-4778-3p	CLIP-seq
MIRT2131810	hsa-miR-4778-5p	CLIP-seq
MIRT2131811	hsa-miR-4795-3p	CLIP-seq
MIRT2131812	hsa-miR-526b	CLIP-seq
MIRT2131813	hsa-miR-548ag	CLIP-seq
MIRT2131814	hsa-miR-548ai	CLIP-seq
MIRT2131815	hsa-miR-590-5p	CLIP-seq
MIRT2131816	hsa-miR-607	CLIP-seq
MIRT2131817	hsa-miR-636	CLIP-seq
MIRT2131818	hsa-miR-642b	CLIP-seq
MIRT2131819	hsa-miR-656	CLIP-seq
MIRT2131820	hsa-miR-664	CLIP-seq
MIRT1440126	hsa-miR-670	CLIP-seq
MIRT2131784	hsa-miR-1266	CLIP-seq
MIRT2131788	hsa-miR-185	CLIP-seq
MIRT2353086	hsa-miR-221	CLIP-seq
MIRT2353087	hsa-miR-222	CLIP-seq
MIRT2353088	hsa-miR-3180-5p	CLIP-seq
MIRT2353089	hsa-miR-3612	CLIP-seq
MIRT2131796	hsa-miR-3664-3p	CLIP-seq
MIRT2353090	hsa-miR-3975	CLIP-seq
MIRT2131799	hsa-miR-4306	CLIP-seq
MIRT2131800	hsa-miR-4433	CLIP-seq
MIRT2353091	hsa-miR-4443	CLIP-seq
MIRT2131802	hsa-miR-4459	CLIP-seq
MIRT2131803	hsa-miR-4518	CLIP-seq
MIRT2131804	hsa-miR-4644	CLIP-seq
MIRT2131806	hsa-miR-4761-5p	CLIP-seq
MIRT2131808	hsa-miR-4768-3p	CLIP-seq
MIRT2353092	hsa-miR-516b	CLIP-seq
MIRT2353093	hsa-miR-520a-5p	CLIP-seq
MIRT2353094	hsa-miR-525-5p	CLIP-seq
MIRT2353095	hsa-miR-650	CLIP-seq
MIRT2353096	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005506	Function	Iron ion binding	IEA
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0045329	Process	Carnitine biosynthetic process	IBA	21873635
GO:0045329	Process	Carnitine biosynthetic process	IEA
GO:0045329	Process	Carnitine biosynthetic process	IMP	23092983
GO:0045329	Process	Carnitine biosynthetic process	TAS
GO:0050353	Function	Trimethyllysine dioxygenase activity	IMP	23092983

Other IDs

• MIM: 300777
• HGNC: 18308
• e!Ensembl: ENSG00000185973

Protein

• UniProt ID: Q9NVH6
• Protein name: Trimethyllysine dioxygenase, mitochondrial (EC 1.14.11.8) (Epsilon-trimethyllysine 2-oxoglutarate dioxygenase) (Epsilon-trimethyllysine hydroxylase) (TML hydroxylase) (TML-alpha-ketoglutarate dioxygenase) (TML dioxygenase) (TMLD)
• Protein function: Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML) (PubMed:11431483, PubMed:23092983).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06155	GBBH-like_N	40 → 134	Gamma-butyrobetaine hydroxylase-like, N-terminal	Domain
  PF02668	TauD	151 → 404	Taurine catabolism dioxygenase TauD, TfdA family	Domain

• Tissue specificity: TISSUE SPECIFICITY: All isoforms, but isoform 8, are widely expressed in adult and fetal tissues. Isoform 8 is restricted to heart and skeletal muscle. {ECO:0000269|PubMed:15754339, ECO:0000269|PubMed:17408883}.
• Sequence:

  MWYHRLSHLHSRLQDLLKGGVIYPALPQPNFKSLLPLAVHWHHTASKSLTCAWQQHEDHF
  ELKYANTVMRFDYVWLRDHCRSASCYNSKTHQRSLDTASVDLCIKPKTIRLDETTLFFTW
  PDGHVTKYDLNWLVKNSYEGQKQKVIQPRILWNAEIYQQAQVPSVDCQSFLETNEGLKKF
  LQNFLLYGIAFVENVPPTQEHTEKLAERISLIRETIYGRMWYFTSDFSRGDTAYTKLALD
  RHTDTTYFQEPCGIQVFHCLKHEGTGGRTLLVDGFYAAEQVLQKAPEEFELLSKVPLKHE
  YIEDVGECHNHMIGIGPVLNIYPWNKELYLIRYNNYDRAVINTVPYDVVHRWYTAHRTLT
  IELRRPENEFWVKLKPGRVLFIDNWRVLHGRECFTGYRQLCGCYLTRDDVLNTARLLGLQ
  A

• Sequence length: 421

Pathways

KEGG:

Lysine degradation
Metabolic pathways

Reactome:

Carnitine synthesis

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Autism, x-linked	AUTISM, SUSCEPTIBILITY TO, X-LINKED 6	rs28934906, rs61751362, rs28934908, rs28935468, rs267608327, rs61752992, rs61749741, rs61749743, rs61751444, rs756651509, rs1060499778, rs1555912102	21865298, 25943046, 23092983
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Developmental regression	Developmental regression	rs1224421127
Mental retardation	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

Unknown
Disease term	Disease name	Evidence	References	Source
Autism Spectrum Disorder	autism spectrum disorder			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Autism Spectrum Disorder	Associate	23092983
Autistic Disorder	Associate	21865298, 23092983
Breast Neoplasms	Associate	40264151
Genetic Diseases Inborn	Associate	29257243
Metabolism Inborn Errors	Inhibit	22566635
Stomach Diseases	Associate	25769450
Stomach Neoplasms	Associate	25769450