DNAJC19 (DnaJ heat shock protein family (Hsp40) member C19)

Gene

• Entrez ID: 131118
• Gene name: DnaJ heat shock protein family (Hsp40) member C19
• Gene symbol: DNAJC19
• Synonyms (NCBI Gene): PAM18, TIM14, TIMM14
• Chromosome: 3
• Chromosome location: 3q26.33
• Summary: The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutac

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137854888	C>G	Pathogenic	Intron variant, splice acceptor variant
rs141007488	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs587777224	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs878852999	C>T	Likely-pathogenic	Splice acceptor variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001552	hsa-miR-155-5p	pSILAC	18668040
MIRT001552	hsa-miR-155-5p	qRT-PCR	20584899
MIRT024336	hsa-miR-215-5p	Microarray	19074876
MIRT026867	hsa-miR-192-5p	Microarray	19074876
MIRT045573	hsa-miR-149-5p	CLASH	23622248
MIRT609502	hsa-miR-8485	HITS-CLIP	23824327
MIRT609501	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609500	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609499	hsa-miR-603	HITS-CLIP	23824327
MIRT609498	hsa-miR-5195-5p	HITS-CLIP	23824327
MIRT609497	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT609496	hsa-miR-3941	HITS-CLIP	23824327
MIRT609502	hsa-miR-8485	HITS-CLIP	23824327
MIRT609501	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609500	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609499	hsa-miR-603	HITS-CLIP	23824327
MIRT609498	hsa-miR-5195-5p	HITS-CLIP	23824327
MIRT609497	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT609496	hsa-miR-3941	HITS-CLIP	23824327
MIRT609502	hsa-miR-8485	HITS-CLIP	23824327
MIRT609501	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609500	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609499	hsa-miR-603	HITS-CLIP	23824327
MIRT609498	hsa-miR-5195-5p	HITS-CLIP	23824327
MIRT609497	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT609496	hsa-miR-3941	HITS-CLIP	23824327
MIRT609502	hsa-miR-8485	HITS-CLIP	23824327
MIRT609501	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609500	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609499	hsa-miR-603	HITS-CLIP	23824327
MIRT609498	hsa-miR-5195-5p	HITS-CLIP	23824327
MIRT609497	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT609496	hsa-miR-3941	HITS-CLIP	23824327
MIRT609502	hsa-miR-8485	HITS-CLIP	23824327
MIRT609501	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609500	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609499	hsa-miR-603	HITS-CLIP	23824327
MIRT609498	hsa-miR-5195-5p	HITS-CLIP	23824327
MIRT609497	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT609496	hsa-miR-3941	HITS-CLIP	23824327
MIRT609502	hsa-miR-8485	HITS-CLIP	23824327
MIRT609501	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609500	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609499	hsa-miR-603	HITS-CLIP	23824327
MIRT609498	hsa-miR-5195-5p	HITS-CLIP	23824327
MIRT609497	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT609496	hsa-miR-3941	HITS-CLIP	23824327
MIRT609502	hsa-miR-8485	HITS-CLIP	23824327
MIRT609501	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609500	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609499	hsa-miR-603	HITS-CLIP	23824327
MIRT609498	hsa-miR-5195-5p	HITS-CLIP	23824327
MIRT609497	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT609496	hsa-miR-3941	HITS-CLIP	23824327
MIRT609502	hsa-miR-8485	HITS-CLIP	23824327
MIRT609501	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609500	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609499	hsa-miR-603	HITS-CLIP	23824327
MIRT609498	hsa-miR-5195-5p	HITS-CLIP	23824327
MIRT609497	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT609496	hsa-miR-3941	HITS-CLIP	23824327
MIRT609502	hsa-miR-8485	HITS-CLIP	23824327
MIRT609501	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609500	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609499	hsa-miR-603	HITS-CLIP	23824327
MIRT609498	hsa-miR-5195-5p	HITS-CLIP	23824327
MIRT609497	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT609496	hsa-miR-3941	HITS-CLIP	23824327
MIRT609502	hsa-miR-8485	HITS-CLIP	23824327
MIRT609501	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609500	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609499	hsa-miR-603	HITS-CLIP	23824327
MIRT609498	hsa-miR-5195-5p	HITS-CLIP	23824327
MIRT609497	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT609496	hsa-miR-3941	HITS-CLIP	23824327
MIRT609502	hsa-miR-8485	HITS-CLIP	23824327
MIRT609501	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609500	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609499	hsa-miR-603	HITS-CLIP	23824327
MIRT609498	hsa-miR-5195-5p	HITS-CLIP	23824327
MIRT609497	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT609496	hsa-miR-3941	HITS-CLIP	23824327
MIRT609502	hsa-miR-8485	HITS-CLIP	23824327
MIRT609501	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609500	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609499	hsa-miR-603	HITS-CLIP	23824327
MIRT609498	hsa-miR-5195-5p	HITS-CLIP	23824327
MIRT609497	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT609496	hsa-miR-3941	HITS-CLIP	23824327
MIRT609502	hsa-miR-8485	HITS-CLIP	23824327
MIRT609501	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609500	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609499	hsa-miR-603	HITS-CLIP	23824327
MIRT609498	hsa-miR-5195-5p	HITS-CLIP	23824327
MIRT609497	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT609496	hsa-miR-3941	HITS-CLIP	23824327
MIRT609502	hsa-miR-8485	HITS-CLIP	23824327
MIRT609501	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609500	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609499	hsa-miR-603	HITS-CLIP	23824327
MIRT609498	hsa-miR-5195-5p	HITS-CLIP	23824327
MIRT609497	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT609496	hsa-miR-3941	HITS-CLIP	23824327
MIRT609502	hsa-miR-8485	HITS-CLIP	23824327
MIRT609501	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609500	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609499	hsa-miR-603	HITS-CLIP	23824327
MIRT609498	hsa-miR-5195-5p	HITS-CLIP	23824327
MIRT609497	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT609496	hsa-miR-3941	HITS-CLIP	23824327
MIRT609502	hsa-miR-8485	HITS-CLIP	23824327
MIRT609501	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609500	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609499	hsa-miR-603	HITS-CLIP	23824327
MIRT609498	hsa-miR-5195-5p	HITS-CLIP	23824327
MIRT609497	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT609496	hsa-miR-3941	HITS-CLIP	23824327
MIRT609502	hsa-miR-8485	HITS-CLIP	23824327
MIRT609501	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609500	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609499	hsa-miR-603	HITS-CLIP	23824327
MIRT609498	hsa-miR-5195-5p	HITS-CLIP	23824327
MIRT609497	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT609496	hsa-miR-3941	HITS-CLIP	23824327
MIRT609502	hsa-miR-8485	HITS-CLIP	23824327
MIRT609501	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609500	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609499	hsa-miR-603	HITS-CLIP	23824327
MIRT609498	hsa-miR-5195-5p	HITS-CLIP	23824327
MIRT609497	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT609496	hsa-miR-3941	HITS-CLIP	23824327
MIRT609502	hsa-miR-8485	HITS-CLIP	23824327
MIRT609501	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609500	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609499	hsa-miR-603	HITS-CLIP	23824327
MIRT609498	hsa-miR-5195-5p	HITS-CLIP	23824327
MIRT609497	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT609496	hsa-miR-3941	HITS-CLIP	23824327
MIRT609502	hsa-miR-8485	HITS-CLIP	23824327
MIRT609501	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609500	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609499	hsa-miR-603	HITS-CLIP	23824327
MIRT609498	hsa-miR-5195-5p	HITS-CLIP	23824327
MIRT609497	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT609496	hsa-miR-3941	HITS-CLIP	23824327
MIRT609502	hsa-miR-8485	HITS-CLIP	23824327
MIRT609501	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609500	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609499	hsa-miR-603	HITS-CLIP	23824327
MIRT609498	hsa-miR-5195-5p	HITS-CLIP	23824327
MIRT609497	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT609496	hsa-miR-3941	HITS-CLIP	23824327
MIRT609502	hsa-miR-8485	HITS-CLIP	23824327
MIRT609501	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609500	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609499	hsa-miR-603	HITS-CLIP	23824327
MIRT609498	hsa-miR-5195-5p	HITS-CLIP	23824327
MIRT609497	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT609496	hsa-miR-3941	HITS-CLIP	23824327
MIRT940925	hsa-miR-1273g	CLIP-seq
MIRT940926	hsa-miR-4264	CLIP-seq
MIRT940927	hsa-miR-4797-3p	CLIP-seq
MIRT940928	hsa-miR-1278	CLIP-seq
MIRT940929	hsa-miR-128	CLIP-seq
MIRT940930	hsa-miR-27a	CLIP-seq
MIRT940931	hsa-miR-27b	CLIP-seq
MIRT940932	hsa-miR-3122	CLIP-seq
MIRT940933	hsa-miR-3197	CLIP-seq
MIRT940934	hsa-miR-329	CLIP-seq
MIRT940935	hsa-miR-361-5p	CLIP-seq
MIRT940936	hsa-miR-3689a-3p	CLIP-seq
MIRT940937	hsa-miR-3689c	CLIP-seq
MIRT940938	hsa-miR-376c	CLIP-seq
MIRT940939	hsa-miR-3913-5p	CLIP-seq
MIRT940940	hsa-miR-3929	CLIP-seq
MIRT940941	hsa-miR-4328	CLIP-seq
MIRT940942	hsa-miR-4419b	CLIP-seq
MIRT940943	hsa-miR-4478	CLIP-seq
MIRT940944	hsa-miR-4503	CLIP-seq
MIRT940945	hsa-miR-4639-5p	CLIP-seq
MIRT940946	hsa-miR-4649-3p	CLIP-seq
MIRT940947	hsa-miR-4712-5p	CLIP-seq
MIRT940948	hsa-miR-4728-5p	CLIP-seq
MIRT940949	hsa-miR-4735-5p	CLIP-seq
MIRT940950	hsa-miR-485-5p	CLIP-seq
MIRT940951	hsa-miR-629	CLIP-seq
MIRT940952	hsa-miR-770-5p	CLIP-seq
MIRT940932	hsa-miR-3122	CLIP-seq
MIRT940933	hsa-miR-3197	CLIP-seq
MIRT940936	hsa-miR-3689a-3p	CLIP-seq
MIRT940937	hsa-miR-3689c	CLIP-seq
MIRT940939	hsa-miR-3913-5p	CLIP-seq
MIRT940940	hsa-miR-3929	CLIP-seq
MIRT940942	hsa-miR-4419b	CLIP-seq
MIRT940943	hsa-miR-4478	CLIP-seq
MIRT940946	hsa-miR-4649-3p	CLIP-seq
MIRT940948	hsa-miR-4728-5p	CLIP-seq
MIRT940950	hsa-miR-485-5p	CLIP-seq
MIRT2428330	hsa-miR-299-5p	CLIP-seq
MIRT940934	hsa-miR-329	CLIP-seq
MIRT940938	hsa-miR-376c	CLIP-seq
MIRT2428330	hsa-miR-299-5p	CLIP-seq
MIRT940934	hsa-miR-329	CLIP-seq
MIRT940938	hsa-miR-376c	CLIP-seq
MIRT2517867	hsa-miR-218	CLIP-seq
MIRT2428330	hsa-miR-299-5p	CLIP-seq
MIRT940932	hsa-miR-3122	CLIP-seq
MIRT2517868	hsa-miR-3152-5p	CLIP-seq
MIRT940933	hsa-miR-3197	CLIP-seq
MIRT940934	hsa-miR-329	CLIP-seq
MIRT2517869	hsa-miR-338-5p	CLIP-seq
MIRT2517870	hsa-miR-3646	CLIP-seq
MIRT2517871	hsa-miR-3650	CLIP-seq
MIRT940936	hsa-miR-3689a-3p	CLIP-seq
MIRT940937	hsa-miR-3689c	CLIP-seq
MIRT2517872	hsa-miR-374c	CLIP-seq
MIRT940938	hsa-miR-376c	CLIP-seq
MIRT940939	hsa-miR-3913-5p	CLIP-seq
MIRT940940	hsa-miR-3929	CLIP-seq
MIRT2517873	hsa-miR-411	CLIP-seq
MIRT2517874	hsa-miR-412	CLIP-seq
MIRT2517875	hsa-miR-4312	CLIP-seq
MIRT2517876	hsa-miR-4327	CLIP-seq
MIRT940942	hsa-miR-4419b	CLIP-seq
MIRT940943	hsa-miR-4478	CLIP-seq
MIRT2517877	hsa-miR-4641	CLIP-seq
MIRT940946	hsa-miR-4649-3p	CLIP-seq
MIRT2517878	hsa-miR-4686	CLIP-seq
MIRT940947	hsa-miR-4712-5p	CLIP-seq
MIRT940948	hsa-miR-4728-5p	CLIP-seq
MIRT2517879	hsa-miR-4774-3p	CLIP-seq
MIRT2517880	hsa-miR-4799-5p	CLIP-seq
MIRT940950	hsa-miR-485-5p	CLIP-seq
MIRT2517881	hsa-miR-548n	CLIP-seq
MIRT2517882	hsa-miR-636	CLIP-seq
MIRT2517883	hsa-miR-655	CLIP-seq
MIRT940952	hsa-miR-770-5p	CLIP-seq
MIRT940929	hsa-miR-128	CLIP-seq
MIRT2517867	hsa-miR-218	CLIP-seq
MIRT940930	hsa-miR-27a	CLIP-seq
MIRT940931	hsa-miR-27b	CLIP-seq
MIRT2428330	hsa-miR-299-5p	CLIP-seq
MIRT940932	hsa-miR-3122	CLIP-seq
MIRT2517868	hsa-miR-3152-5p	CLIP-seq
MIRT940933	hsa-miR-3197	CLIP-seq
MIRT940934	hsa-miR-329	CLIP-seq
MIRT2517869	hsa-miR-338-5p	CLIP-seq
MIRT2517870	hsa-miR-3646	CLIP-seq
MIRT2517871	hsa-miR-3650	CLIP-seq
MIRT940936	hsa-miR-3689a-3p	CLIP-seq
MIRT940937	hsa-miR-3689c	CLIP-seq
MIRT2517872	hsa-miR-374c	CLIP-seq
MIRT940938	hsa-miR-376c	CLIP-seq
MIRT940939	hsa-miR-3913-5p	CLIP-seq
MIRT940940	hsa-miR-3929	CLIP-seq
MIRT2517873	hsa-miR-411	CLIP-seq
MIRT2517874	hsa-miR-412	CLIP-seq
MIRT2517875	hsa-miR-4312	CLIP-seq
MIRT2517876	hsa-miR-4327	CLIP-seq
MIRT940942	hsa-miR-4419b	CLIP-seq
MIRT940943	hsa-miR-4478	CLIP-seq
MIRT2517877	hsa-miR-4641	CLIP-seq
MIRT940946	hsa-miR-4649-3p	CLIP-seq
MIRT2517878	hsa-miR-4686	CLIP-seq
MIRT940947	hsa-miR-4712-5p	CLIP-seq
MIRT2679335	hsa-miR-4720-3p	CLIP-seq
MIRT940948	hsa-miR-4728-5p	CLIP-seq
MIRT940949	hsa-miR-4735-5p	CLIP-seq
MIRT2517879	hsa-miR-4774-3p	CLIP-seq
MIRT940950	hsa-miR-485-5p	CLIP-seq
MIRT2679336	hsa-miR-487a	CLIP-seq
MIRT2517881	hsa-miR-548n	CLIP-seq
MIRT2679337	hsa-miR-587	CLIP-seq
MIRT2517882	hsa-miR-636	CLIP-seq
MIRT2517883	hsa-miR-655	CLIP-seq
MIRT940952	hsa-miR-770-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001405	Component	PAM complex, Tim23 associated import motor	IBA	21873635
GO:0001671	Function	ATPase activator activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	19564938, 20053669
GO:0005739	Component	Mitochondrion	IDA	12592411
GO:0005743	Component	Mitochondrial inner membrane	IDA	20053669
GO:0006457	Process	Protein folding	NAS	16055927
GO:0006626	Process	Protein targeting to mitochondrion	NAS	16055927
GO:0007601	Process	Visual perception	IMP	16055927
GO:0016021	Component	Integral component of membrane	NAS	16055927
GO:0030150	Process	Protein import into mitochondrial matrix	IBA	21873635
GO:0032781	Process	Positive regulation of ATPase activity	IEA
GO:0032991	Component	Protein-containing complex	IDA	19564938, 20053669
GO:0048806	Process	Genitalia development	IMP	16055927
GO:0098800	Component	Inner mitochondrial membrane protein complex	ISS
GO:0099617	Component	Matrix side of mitochondrial inner membrane	ISS
GO:1900208	Process	Regulation of cardiolipin metabolic process	ISS

Other IDs

• MIM: 608977
• HGNC: 30528
• e!Ensembl: ENSG00000205981

Protein

• UniProt ID: Q96DA6
• Protein name: Mitochondrial import inner membrane translocase subunit TIM14 (DnaJ homolog subfamily C member 19)
• Protein function: Mitochondrial co-chaperone which forms a complex with prohibitins to regulate cardiolipin remodeling (By similarity). May be a component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00226	DnaJ	65 → 116	DnaJ domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed.
• Sequence:

  MASTVVAVGLTIAAAGFAGRYVLQAMKHMEPQVKQVFQSLPKSAFSGGYYRGGFEPKMTK
  REAALILGVSPTANKGKIRDAHRRIMLLNHPDKGGSPYIAAKINEAKDLLEGQAKK

• Sequence length: 116

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
3-methylglutaconic aciduria	3-@METHYLGLUTACONIC ACIDURIA, TYPE V, 3-methylglutaconic aciduria type 5	rs137854888, rs80356523, rs80356526, rs121434636, rs730880309, rs730880310, rs730880311, rs730880312, rs199474657, rs1603377590, rs104894941, rs2147483647, rs132630277, rs1603377747, rs1603376833, rs104894942, rs1603381671, rs587776741, rs28937899, rs387906755, rs387906756, rs387907218, rs397515738, rs397515740, rs397515747, rs587777224, rs759500860, rs748010262, rs786205138, rs144078282, rs200203460, rs786205139, rs876657402, rs794729166, rs794729167, rs797044891, rs748318386, rs876661038, rs876661112, rs878852999, rs878853654, rs777202372, rs1057516497, rs767006508, rs1057519080, rs1057519081, rs1057519082, rs1060500044, rs1085307797, rs1557194525, rs1244226820, rs974377052, rs781795144, rs1305711807, rs1557191074, rs1555087619, rs769894315, rs1557191170, rs1555736803, rs1555736814, rs1555736793, rs878853656, rs776019250, rs35135520, rs1569552731, rs1565424666, rs1568413644, rs1569552936, rs1603377945, rs1603381860, rs1587799880, rs1603376938, rs185461628, rs1219516037, rs780554501, rs368496010, rs2068570435, rs2068574381, rs2068331233	22797137, 16055927, 27928778, 27426421
Anemia	Microcytic hypochromic anemia (disorder)	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Cardiomyopathy	Cardiomyopathy, Dilated	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
Cryptorchidism	Cryptorchidism, Bilateral Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Developmental regression	Developmental regression	rs1224421127
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
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
Microcytic anemia	Microcytic normochromic anemia	rs137853120, rs137853123, rs1569024289, rs775869554
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Noncompaction cardiomyopathy	Noncompaction cardiomyopathy	rs1553915256
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575

Unknown
Disease term	Disease name	Evidence	References	Source
Congestive heart failure	Congestive heart failure			ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
3 Methylglutaconic Aciduria	Associate	27485409
3 Methylglutaconic Aciduria Type V	Associate	16055927, 32521499, 38142971
Ataxia	Associate	27330077
Barth Syndrome	Associate	16055927
Carcinoma Ovarian Epithelial	Associate	33173439
Cardiomyopathies	Associate	38142971
Cardiomyopathy Dilated	Associate	20053669, 27330077
Genetic Diseases Inborn	Associate	20053669
Heart Diseases	Associate	20053669
Mitochondrial Diseases	Associate	38142971
Neurodegenerative Diseases	Associate	20053669
Parkinson Disease	Associate	35289213