SLC25A20 (solute carrier family 25 member 20)

Gene

• Entrez ID: 788
• Gene name: Solute carrier family 25 member 20
• Gene symbol: SLC25A20
• Synonyms (NCBI Gene): CAC, CACT
• Chromosome: 3
• Chromosome location: 3p21.31
• Summary: This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix fo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28934589	T>C	Pathogenic	Missense variant, coding sequence variant
rs151340616	G>A	Pathogenic	Coding sequence variant, stop gained
rs541208710	A>C	Pathogenic	Intron variant
rs577331691	C>G	Pathogenic	Missense variant, coding sequence variant
rs587776759	->G	Pathogenic	Coding sequence variant, frameshift variant
rs587776760	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs587777286	C>T	Pathogenic	Stop gained, coding sequence variant
rs587777287	T>A,C	Pathogenic	Splice acceptor variant
rs753414360	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs756998699	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs757552268	C>-	Pathogenic	Splice donor variant, coding sequence variant
rs778220325	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553684897	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553686314	AGCACATCTTCTGGGTGTTTCTGTTGTAGTTTCTTCCCCAAACCAAACCCAAAGAAGCACACGGCAAACATGGGAGTGACCCCGATGATAGGGGCAGCCATTCCCCGATATAGCCCCGTGATGCCCTG>-	Pathogenic	Splice acceptor variant, splice donor variant, intron variant, coding sequence variant
rs1553686321	T>A	Pathogenic	Stop gained, coding sequence variant
rs1553686345	T>G	Pathogenic	Splice acceptor variant
rs1575989549	G>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT622247	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622247	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622247	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622247	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622247	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622247	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622247	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT622247	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622246	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT622245	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT622244	hsa-miR-3658	HITS-CLIP	23824327
MIRT622243	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT1355578	hsa-miR-105	CLIP-seq
MIRT1355579	hsa-miR-1208	CLIP-seq
MIRT1355580	hsa-miR-1343	CLIP-seq
MIRT1355581	hsa-miR-3153	CLIP-seq
MIRT1355582	hsa-miR-4266	CLIP-seq
MIRT1355583	hsa-miR-4506	CLIP-seq
MIRT1355584	hsa-miR-4668-3p	CLIP-seq
MIRT1355585	hsa-miR-4695-5p	CLIP-seq
MIRT1355586	hsa-miR-4698	CLIP-seq
MIRT1355587	hsa-miR-4779	CLIP-seq
MIRT1355588	hsa-miR-4794	CLIP-seq
MIRT1355589	hsa-miR-515-5p	CLIP-seq
MIRT1355590	hsa-miR-548c-3p	CLIP-seq
MIRT1355591	hsa-miR-875-3p	CLIP-seq
MIRT1355592	hsa-miR-892a	CLIP-seq
MIRT2105300	hsa-miR-132	CLIP-seq
MIRT2105301	hsa-miR-212	CLIP-seq
MIRT2105302	hsa-miR-3614-5p	CLIP-seq
MIRT2105303	hsa-miR-3662	CLIP-seq
MIRT2105304	hsa-miR-425	CLIP-seq
MIRT2105305	hsa-miR-4436b-5p	CLIP-seq
MIRT2105306	hsa-miR-4520a-3p	CLIP-seq
MIRT2105307	hsa-miR-4520b-3p	CLIP-seq
MIRT1355586	hsa-miR-4698	CLIP-seq
MIRT2105308	hsa-miR-4789-5p	CLIP-seq
MIRT2105309	hsa-miR-541	CLIP-seq
MIRT2105310	hsa-miR-603	CLIP-seq
MIRT2105311	hsa-miR-642b	CLIP-seq
MIRT2105312	hsa-miR-654-5p	CLIP-seq
MIRT2105313	hsa-miR-890	CLIP-seq
MIRT2329882	hsa-miR-4530	CLIP-seq
MIRT1355579	hsa-miR-1208	CLIP-seq
MIRT2624082	hsa-miR-1229	CLIP-seq
MIRT2624083	hsa-miR-124	CLIP-seq
MIRT2624084	hsa-miR-1265	CLIP-seq
MIRT2624085	hsa-miR-127-3p	CLIP-seq
MIRT2624086	hsa-miR-1286	CLIP-seq
MIRT2105300	hsa-miR-132	CLIP-seq
MIRT2624087	hsa-miR-145	CLIP-seq
MIRT2105301	hsa-miR-212	CLIP-seq
MIRT2624088	hsa-miR-3127-3p	CLIP-seq
MIRT2624089	hsa-miR-3145-5p	CLIP-seq
MIRT1355581	hsa-miR-3153	CLIP-seq
MIRT2624090	hsa-miR-3157-3p	CLIP-seq
MIRT2624091	hsa-miR-3168	CLIP-seq
MIRT2624092	hsa-miR-3199	CLIP-seq
MIRT2624093	hsa-miR-3647-3p	CLIP-seq
MIRT2624094	hsa-miR-3691-3p	CLIP-seq
MIRT2624095	hsa-miR-3714	CLIP-seq
MIRT2624096	hsa-miR-3909	CLIP-seq
MIRT2624097	hsa-miR-3910	CLIP-seq
MIRT2624098	hsa-miR-3925-3p	CLIP-seq
MIRT1355582	hsa-miR-4266	CLIP-seq
MIRT2624099	hsa-miR-4290	CLIP-seq
MIRT2624100	hsa-miR-4328	CLIP-seq
MIRT2624101	hsa-miR-4695-3p	CLIP-seq
MIRT1355585	hsa-miR-4695-5p	CLIP-seq
MIRT2624102	hsa-miR-4709-5p	CLIP-seq
MIRT2624103	hsa-miR-4722-5p	CLIP-seq
MIRT1355587	hsa-miR-4779	CLIP-seq
MIRT2105308	hsa-miR-4789-5p	CLIP-seq
MIRT2624104	hsa-miR-506	CLIP-seq
MIRT2624105	hsa-miR-508-5p	CLIP-seq
MIRT1355589	hsa-miR-515-5p	CLIP-seq
MIRT2624106	hsa-miR-602	CLIP-seq
MIRT2105310	hsa-miR-603	CLIP-seq
MIRT2624107	hsa-miR-616	CLIP-seq
MIRT2105311	hsa-miR-642b	CLIP-seq
MIRT2624108	hsa-miR-874	CLIP-seq
MIRT1355592	hsa-miR-892a	CLIP-seq
MIRT1355579	hsa-miR-1208	CLIP-seq
MIRT2624082	hsa-miR-1229	CLIP-seq
MIRT2690991	hsa-miR-1237	CLIP-seq
MIRT2624083	hsa-miR-124	CLIP-seq
MIRT2690992	hsa-miR-1248	CLIP-seq
MIRT2624084	hsa-miR-1265	CLIP-seq
MIRT2624085	hsa-miR-127-3p	CLIP-seq
MIRT2624086	hsa-miR-1286	CLIP-seq
MIRT2690993	hsa-miR-1299	CLIP-seq
MIRT2105300	hsa-miR-132	CLIP-seq
MIRT2624087	hsa-miR-145	CLIP-seq
MIRT2690994	hsa-miR-196a	CLIP-seq
MIRT2690995	hsa-miR-196b	CLIP-seq
MIRT2105301	hsa-miR-212	CLIP-seq
MIRT2690996	hsa-miR-3064-3p	CLIP-seq
MIRT2690997	hsa-miR-3126-3p	CLIP-seq
MIRT2624088	hsa-miR-3127-3p	CLIP-seq
MIRT2624089	hsa-miR-3145-5p	CLIP-seq
MIRT1355581	hsa-miR-3153	CLIP-seq
MIRT2624090	hsa-miR-3157-3p	CLIP-seq
MIRT2624091	hsa-miR-3168	CLIP-seq
MIRT2624092	hsa-miR-3199	CLIP-seq
MIRT2624093	hsa-miR-3647-3p	CLIP-seq
MIRT2690998	hsa-miR-3663-5p	CLIP-seq
MIRT2624094	hsa-miR-3691-3p	CLIP-seq
MIRT2624095	hsa-miR-3714	CLIP-seq
MIRT2624096	hsa-miR-3909	CLIP-seq
MIRT2624097	hsa-miR-3910	CLIP-seq
MIRT2624098	hsa-miR-3925-3p	CLIP-seq
MIRT1355582	hsa-miR-4266	CLIP-seq
MIRT2690999	hsa-miR-4279	CLIP-seq
MIRT2624099	hsa-miR-4290	CLIP-seq
MIRT2624100	hsa-miR-4328	CLIP-seq
MIRT2691000	hsa-miR-4527	CLIP-seq
MIRT2624101	hsa-miR-4695-3p	CLIP-seq
MIRT1355585	hsa-miR-4695-5p	CLIP-seq
MIRT2624102	hsa-miR-4709-5p	CLIP-seq
MIRT2624103	hsa-miR-4722-5p	CLIP-seq
MIRT1355587	hsa-miR-4779	CLIP-seq
MIRT2105308	hsa-miR-4789-5p	CLIP-seq
MIRT2624104	hsa-miR-506	CLIP-seq
MIRT2624105	hsa-miR-508-5p	CLIP-seq
MIRT1355589	hsa-miR-515-5p	CLIP-seq
MIRT2624106	hsa-miR-602	CLIP-seq
MIRT2105310	hsa-miR-603	CLIP-seq
MIRT2624107	hsa-miR-616	CLIP-seq
MIRT2105311	hsa-miR-642b	CLIP-seq
MIRT2691001	hsa-miR-671-5p	CLIP-seq
MIRT2624108	hsa-miR-874	CLIP-seq
MIRT1355591	hsa-miR-875-3p	CLIP-seq
MIRT1355592	hsa-miR-892a	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PPARA	Unknown	19748481
SP1	Unknown	21130740

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	IDA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006853	Process	Carnitine shuttle	TAS
GO:0015227	Function	Acyl carnitine transmembrane transporter activity	EXP	9399886
GO:0015227	Function	Acyl carnitine transmembrane transporter activity	ISS
GO:0016021	Component	Integral component of membrane	IEA
GO:1902603	Process	Carnitine transmembrane transport	ISS
GO:1902616	Process	Acyl carnitine transmembrane transport	IEA

Other IDs

• MIM: 613698
• HGNC: 1421
• e!Ensembl: ENSG00000178537

Protein

• UniProt ID: O43772
• Protein name: Mitochondrial carnitine/acylcarnitine carrier protein (Carnitine/acylcarnitine translocase) (CAC) (CACT) (Solute carrier family 25 member 20)
• Protein function: Mediates the electroneutral exchange of acylcarnitines (O-acyl-(R)-carnitine or L-acylcarnitine) of different acyl chain lengths (ranging from O-acetyl-(R)-carnitine to long-chain O-acyl-(R)-carnitines) with free carnitine ((R)-carnitine or L-ca
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00153	Mito_carr	6 → 104	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	106 → 201	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	205 → 298	Mitochondrial carrier protein	Family

• Sequence:

  MADQPKPISPLKNLLAGGFGGVCLVFVGHPLDTVKVRLQTQPPSLPGQPPMYSGTFDCFR
  KTLFREGITGLYRGMAAPIIGVTPMFAVCFFGFGLGKKLQQKHPEDVLSYPQLFAAGMLS
  GVFTTGIMTPGERIKCLLQIQASSGESKYTGTLDCAKKLYQEFGIRGIYKGTVLTLMRDV
  PASGMYFMTYEWLKNIFTPEGKRVSELSAPRILVAGGIAGIFNWAVAIPPDVLKSRFQTA
  PPGKYPNGFRDVLRELIRDEGVTSLYKGFNAVMIRAFPANAACFLGFEVAMKFLNWATPN
  L

• Sequence length: 301

Pathways

KEGG:

Thermogenesis

Reactome:

Carnitine metabolism

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Atrioventricular block	Atrioventricular Block	rs766840243, rs763809932
Cardiomyopathy	Cardiomyopathies	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178
Carnitine-acylcarnitine translocase deficiency	Carnitine-Acylcarnitine Translocase Deficiency	rs587776759, rs1553686314, rs151340616, rs587776760, rs541208710, rs28934589, rs587777286, rs587777287, rs756998699, rs757552268, rs1553684897, rs1553686321, rs778220325, rs753414360, rs577331691, rs1575989549	15365988, 26238931, 12559850, 10697964, 11592821, 25614308, 21605995, 9686371, 9399886, 11350184, 11162577, 17277394, 27066551, 12859414, 16919490, 15057979, 25459972, 9731180, 27604308, 24088670
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
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325
Liver failure	Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Ventricular tachycardia	Tachycardia, Ventricular	rs137853228, rs397517025, rs199473373, rs727504432, rs1450434935, rs1592847299

Unknown
Disease term	Disease name	Evidence	References	Source
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Atrial Fibrillation	Associate	27332823
Brain Diseases	Associate	39457408
Carcinogenesis	Inhibit	33824298
Carcinoma Hepatocellular	Associate	30176945
Carcinoma Hepatocellular	Inhibit	33824298
Carnitine Acylcarnitine Translocase Deficiency	Associate	35181030, 37115522
Carnitine palmitoyl transferase 2 deficiency	Associate	34626609
Carnitine Palmitoyltransferase II Deficiency Infantile	Associate	37115522
Chanarin Dorfman Syndrome	Associate	40225143
Chemical and Drug Induced Liver Injury	Associate	37115522
Colorectal Neoplasms	Associate	30841568
Death	Associate	35181030
Diabetes Gestational	Associate	30350881
Diabetes Mellitus Type 2	Associate	31378464
Frontotemporal Dementia	Associate	19683260
Inflammation	Associate	37932834
Liver Neoplasms	Associate	30176945
Neoplasm Metastasis	Inhibit	33824298
Neoplasms	Associate	27189278, 33824298
Parkinson Disease	Associate	31199560
Urinary Bladder Neoplasms	Associate	27189278