Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	131118
Gene name	DnaJ heat shock protein family (Hsp40) member C19
Gene symbol	DNAJC19
Synonyms (NCBI Gene)	PAM18TIM14TIMM14
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

Show/Hide all (4)

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

276

Show/Hide all (276)

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

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001405	Component	PAM complex, Tim23 associated import motor	IBA
GO:0001671	Function	ATPase activator activity	IBA
GO:0005515	Function	Protein binding	IPI	19564938, 20053669
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	12592411
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	20053669
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	10339406
GO:0005744	Component	TIM23 mitochondrial import inner membrane translocase complex	NAS	10339406
GO:0006457	Process	Protein folding	NAS	16055927
GO:0006626	Process	Protein targeting to mitochondrion	NAS	16055927
GO:0006886	Process	Intracellular protein transport	NAS	10339406
GO:0007601	Process	Visual perception	IMP	16055927
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	16055927
GO:0030150	Process	Protein import into mitochondrial matrix	IBA
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

MIM	HGNC	e!Ensembl
608977	30528	ENSG00000205981

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

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
3-Methylglutaconic aciduria type 3	Pathogenic	rs145786060	RCV001824933	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
3-methylglutaconic aciduria type 5	Pathogenic; Likely pathogenic	rs587777224, rs1560040369, rs753055824, rs2108509666, rs2108509746, rs137854888, rs764568129, rs878852999, rs2473927704, rs772236610, rs2473924536, rs2473933595, rs145786060, rs1715007577, rs755024172	RCV000106304 RCV001729987 RCV003499190 RCV001780991 RCV002051190 View all (10 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DNAJC19-related disorder	Pathogenic	rs137854888	RCV003415625	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Likely pathogenic	rs772236610	RCV005871345	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
3-Methylglutaconic aciduria	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY WITH ATAXIA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (48)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
3-@METHYLGLUTACONIC ACIDURIA, TYPE V	3-Methylglutaconic aciduria	BEFREE	16055927, 22797137, 23296368		★★★★★ ★☆☆☆☆ Found in Text Mining only
3-@METHYLGLUTACONIC ACIDURIA, TYPE V	3-Methylglutaconic aciduria	ORPHANET_DG	16055927		★★★★★ ★☆☆☆☆ Found in Text Mining only
3-@METHYLGLUTACONIC ACIDURIA, TYPE V	3-Methylglutaconic aciduria	GENOMICS_ENGLAND_DG	16055927, 22797137, 27426421, 27928778		★★★★★ ★☆☆☆☆ Found in Text Mining only
3-@METHYLGLUTACONIC ACIDURIA, TYPE V	3-Methylglutaconic aciduria	CLINVAR_DG	16055927		★★★★★ ★☆☆☆☆ Found in Text Mining only
3-@METHYLGLUTACONIC ACIDURIA, TYPE V	3-Methylglutaconic aciduria	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
3-methylglutaconic aciduria type 5	3-Methylglutaconic aciduria	GENOMICS_ENGLAND_DG	22797137, 27426421		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arachnoid Cysts	Arachnoid cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	27330077	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy/Degeneration affecting the brainstem	Brainstem Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Barth Syndrome	Barth syndrome	Pubtator	16055927	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	33173439	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	24856930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	38142971	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	20053669, 27330077	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	16055927, 17244376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	22797137, 27426421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	20053669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	27426421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diaphragmatic Eventration	Diaphragmatic Eventration	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dilated cardiomyopathy with ataxia	Dilated Cardiomyopathy With Ataxia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	20053669	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias, perineal	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcytic hypochromic anemia (disorder)	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcytic normochromic anemia	Microcytic anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	38142971	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	30481057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular ventricular septum defect	Muscular ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	20053669	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Noncompaction cardiomyopathy	Noncompaction cardiomyopathy	BEFREE	22797137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noncompaction cardiomyopathy	Noncompaction cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	35289213	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Repetitive compulsive behavior	Repetitive compulsive behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

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