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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4704
Gene name	NADH:ubiquinone oxidoreductase subunit A9
Gene symbol	NDUFA9
Synonyms (NCBI Gene)	CC6CI-39kCI39kCOQ11MC1DN26NDUFS2LSDR22E1
Chromosome	12
Chromosome location	12p13.32
Summary	The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs3210083	C>T	Pathogenic	Coding sequence variant, missense variant
rs35263902	G>A,T	Likely-benign, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs139674448	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199592341	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs768333416	G>A	Likely-pathogenic	Intron variant

122

Show/Hide all (122)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031528	hsa-miR-16-5p	Proteomics	18668040
MIRT048492	hsa-miR-100-5p	CLASH	23622248
MIRT626757	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT626756	hsa-miR-4251	HITS-CLIP	23824327
MIRT626755	hsa-miR-4329	HITS-CLIP	23824327
MIRT626754	hsa-miR-6761-5p	HITS-CLIP	23824327
MIRT626753	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT626752	hsa-miR-4303	HITS-CLIP	23824327
MIRT626751	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT626750	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT626749	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT626748	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT626757	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT626756	hsa-miR-4251	HITS-CLIP	23824327
MIRT626755	hsa-miR-4329	HITS-CLIP	23824327
MIRT626754	hsa-miR-6761-5p	HITS-CLIP	23824327
MIRT626753	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT626752	hsa-miR-4303	HITS-CLIP	23824327
MIRT626751	hsa-miR-4727-5p	HITS-CLIP	23824327
MIRT626750	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT626749	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT626748	hsa-miR-6738-3p	HITS-CLIP	23824327
MIRT2051754	hsa-miR-3177-5p	CLIP-seq
MIRT2051755	hsa-miR-4661-3p	CLIP-seq
MIRT2051756	hsa-miR-4700-3p	CLIP-seq
MIRT2051757	hsa-miR-892a	CLIP-seq
MIRT2280855	hsa-miR-1256	CLIP-seq
MIRT2280856	hsa-miR-200b	CLIP-seq
MIRT2280857	hsa-miR-200c	CLIP-seq
MIRT2280858	hsa-miR-203	CLIP-seq
MIRT2280859	hsa-miR-217	CLIP-seq
MIRT2280860	hsa-miR-298	CLIP-seq
MIRT2280861	hsa-miR-3146	CLIP-seq
MIRT2280862	hsa-miR-3158-5p	CLIP-seq
MIRT2280863	hsa-miR-4272	CLIP-seq
MIRT2280864	hsa-miR-429	CLIP-seq
MIRT2280865	hsa-miR-4418	CLIP-seq
MIRT2280866	hsa-miR-4714-3p	CLIP-seq
MIRT2280867	hsa-miR-4777-5p	CLIP-seq
MIRT2280868	hsa-miR-509-3-5p	CLIP-seq
MIRT2280869	hsa-miR-509-5p	CLIP-seq
MIRT2280870	hsa-miR-511	CLIP-seq
MIRT2280871	hsa-miR-518d-5p	CLIP-seq
MIRT2280872	hsa-miR-519b-5p	CLIP-seq
MIRT2280873	hsa-miR-519c-5p	CLIP-seq
MIRT2280874	hsa-miR-520c-5p	CLIP-seq
MIRT2280875	hsa-miR-526a	CLIP-seq
MIRT2455028	hsa-miR-1276	CLIP-seq
MIRT2455029	hsa-miR-3064-5p	CLIP-seq
MIRT2455030	hsa-miR-3652	CLIP-seq
MIRT2455031	hsa-miR-3907	CLIP-seq
MIRT2455032	hsa-miR-4311	CLIP-seq
MIRT2455033	hsa-miR-4430	CLIP-seq
MIRT2455034	hsa-miR-4505	CLIP-seq
MIRT2455035	hsa-miR-4744	CLIP-seq
MIRT2455036	hsa-miR-583	CLIP-seq
MIRT2455028	hsa-miR-1276	CLIP-seq
MIRT2579297	hsa-miR-140-5p	CLIP-seq
MIRT2280856	hsa-miR-200b	CLIP-seq
MIRT2280857	hsa-miR-200c	CLIP-seq
MIRT2280858	hsa-miR-203	CLIP-seq
MIRT2280859	hsa-miR-217	CLIP-seq
MIRT2280860	hsa-miR-298	CLIP-seq
MIRT2455029	hsa-miR-3064-5p	CLIP-seq
MIRT2280861	hsa-miR-3146	CLIP-seq
MIRT2280862	hsa-miR-3158-5p	CLIP-seq
MIRT2051754	hsa-miR-3177-5p	CLIP-seq
MIRT2455030	hsa-miR-3652	CLIP-seq
MIRT2579298	hsa-miR-3681	CLIP-seq
MIRT2280863	hsa-miR-4272	CLIP-seq
MIRT2280864	hsa-miR-429	CLIP-seq
MIRT2579299	hsa-miR-4307	CLIP-seq
MIRT2455032	hsa-miR-4311	CLIP-seq
MIRT2280865	hsa-miR-4418	CLIP-seq
MIRT2455033	hsa-miR-4430	CLIP-seq
MIRT2455034	hsa-miR-4505	CLIP-seq
MIRT2579300	hsa-miR-4509	CLIP-seq
MIRT2051755	hsa-miR-4661-3p	CLIP-seq
MIRT2051756	hsa-miR-4700-3p	CLIP-seq
MIRT2280866	hsa-miR-4714-3p	CLIP-seq
MIRT2455035	hsa-miR-4744	CLIP-seq
MIRT2280867	hsa-miR-4777-5p	CLIP-seq
MIRT2579301	hsa-miR-4795-5p	CLIP-seq
MIRT2280868	hsa-miR-509-3-5p	CLIP-seq
MIRT2280869	hsa-miR-509-5p	CLIP-seq
MIRT2280870	hsa-miR-511	CLIP-seq
MIRT2280871	hsa-miR-518d-5p	CLIP-seq
MIRT2280872	hsa-miR-519b-5p	CLIP-seq
MIRT2280873	hsa-miR-519c-5p	CLIP-seq
MIRT2280874	hsa-miR-520c-5p	CLIP-seq
MIRT2280875	hsa-miR-526a	CLIP-seq
MIRT2455036	hsa-miR-583	CLIP-seq
MIRT2579302	hsa-miR-633	CLIP-seq
MIRT2051757	hsa-miR-892a	CLIP-seq
MIRT2455028	hsa-miR-1276	CLIP-seq
MIRT2280856	hsa-miR-200b	CLIP-seq
MIRT2280857	hsa-miR-200c	CLIP-seq
MIRT2280858	hsa-miR-203	CLIP-seq
MIRT2280859	hsa-miR-217	CLIP-seq
MIRT2280860	hsa-miR-298	CLIP-seq
MIRT2455029	hsa-miR-3064-5p	CLIP-seq
MIRT2280862	hsa-miR-3158-5p	CLIP-seq
MIRT2051754	hsa-miR-3177-5p	CLIP-seq
MIRT2455030	hsa-miR-3652	CLIP-seq
MIRT2579298	hsa-miR-3681	CLIP-seq
MIRT2280863	hsa-miR-4272	CLIP-seq
MIRT2280864	hsa-miR-429	CLIP-seq
MIRT2579299	hsa-miR-4307	CLIP-seq
MIRT2455032	hsa-miR-4311	CLIP-seq
MIRT2280865	hsa-miR-4418	CLIP-seq
MIRT2455033	hsa-miR-4430	CLIP-seq
MIRT2455034	hsa-miR-4505	CLIP-seq
MIRT2579300	hsa-miR-4509	CLIP-seq
MIRT2051755	hsa-miR-4661-3p	CLIP-seq
MIRT2051756	hsa-miR-4700-3p	CLIP-seq
MIRT2280866	hsa-miR-4714-3p	CLIP-seq
MIRT2455035	hsa-miR-4744	CLIP-seq
MIRT2280868	hsa-miR-509-3-5p	CLIP-seq
MIRT2280869	hsa-miR-509-5p	CLIP-seq
MIRT2455036	hsa-miR-583	CLIP-seq
MIRT2579302	hsa-miR-633	CLIP-seq
MIRT2051757	hsa-miR-892a	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003954	Function	NADH dehydrogenase activity	IMP	11112787
GO:0003954	Function	NADH dehydrogenase activity	NAS	8486360
GO:0005515	Function	Protein binding	IPI	17500595, 19103604, 22309213, 28985504, 31536960, 32296183, 32814053
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	28844695
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	8486360
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	9878551
GO:0006744	Process	Ubiquinone biosynthetic process	IBA
GO:0006814	Process	Sodium ion transport	NAS	8486360
GO:0007623	Process	Circadian rhythm	IDA	28985504
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	8486360, 9878551
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0031966	Component	Mitochondrial membrane	IDA	17209039
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	NAS	30030361
GO:0044877	Function	Protein-containing complex binding	IBA
GO:0044877	Function	Protein-containing complex binding	IDA	23209302
GO:0045271	Component	Respiratory chain complex I	IDA	9878551, 12611891, 17209039, 27626371, 31536960
GO:0045271	Component	Respiratory chain complex I	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
603834	7693	ENSG00000139180

Q16795

Protein name

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial (Complex I-39kD) (CI-39kD) (NADH-ubiquinone oxidoreductase 39 kDa subunit)

Protein function

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Required for proper complex I assembly (PubMed:28671271). Complex I functions in the transfer of

PDB

5XTB , 5XTD , 5XTH , 5XTI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01370	Epimerase	56 → 266	NAD dependent epimerase/dehydratase family	Family

Sequence

MAAAAQSRVVRVLSMSRSAITAIATSVCHGPPCRQLHHALMPHGKGGRSSVSGIVATVFG
ATGFLGRYVVNHLGRMGSQVIIPYRCDKYDIMHLRPMGDLGQLLFLEWDARDKDSIRRVV
QHSNVVINLIGRDWETKNFDFEDVFVKIPQAIAQLSKEAGVEKFIHVSHLNANIKSSSRY
LRNKAVGEKVVRDAFPEAIIVKPSDIFGREDRFLNSFASMHRFGPIPLGSLGWKTVKQPV
YVVDVSKGIVNAVKDPDANGKSFAFVGPSRYLLFHLVKYIFAVAHRLFLPFPLPLFAYRW
VARVFEISPFEPWITRDKVERMHITDMKLPHLPGLEDLGIQATPLELKAIEVLRRHRTYR
WLSAEIEDVKPAKTVNI

Sequence length

377

Interactions

View interactions

	KEGG		Reactome
	Oxidative phosphorylation Metabolic pathways Thermogenesis Retrograde endocannabinoid signaling Non-alcoholic fatty liver disease Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Prion disease Pathways of neurodegeneration - multiple diseases Chemical carcinogenesis - reactive oxygen species Diabetic cardiomyopathy		Respiratory electron transport Complex I biogenesis

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mitochondrial complex I deficiency, nuclear type 26	Likely pathogenic; Pathogenic	rs2498069574, rs199592341, rs1945978807	RCV004547223 RCV000023344 RCV001291731	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (17)

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.
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh syndrome	Uncertain significance	ClinVar ClinGen, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEIGH SYNDROME WITH LEUKODYSTROPHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NDUFA9-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (42)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	26125932, 30691479	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31432181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23951239	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	23951239	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	28671271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	GENOMICS_ENGLAND_DG	22114105, 27604308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CLINGEN_DG	22114105, 23223238, 25613900, 27509854, 28671271		★★★★★ ★☆☆☆☆ Found in Text Mining only
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	Leigh Syndrome	CLINGEN_DG	22114105, 23223238, 25613900, 27509854, 28671271		★★★★★ ★☆☆☆☆ Found in Text Mining only
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	Leigh Syndrome	GENOMICS_ENGLAND_DG	22114105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome Due To Mitochondrial Complex II Deficiency	Leigh Syndrome	CLINGEN_DG	22114105, 23223238, 25613900, 27509854, 28671271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex III Deficiency	Leigh Syndrome	CLINGEN_DG	22114105, 23223238, 25613900, 27509854, 28671271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex IV Deficiency	Leigh Syndrome	CLINGEN_DG	22114105, 23223238, 25613900, 27509854, 28671271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex V Deficiency	Leigh Syndrome	CLINGEN_DG	22114105, 23223238, 25613900, 27509854, 28671271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh syndrome with leukodystrophy	Leigh Syndrome With Leukodystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26	Mitochondrial Complex Deficiency	UNIPROT_DG	22114105, 28671271		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	22114105, 28671271		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26	Mitochondrial Complex Deficiency	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrotizing encephalopathy, infantile subacute, of Leigh	Necrotizing encephalomyelopathy	CLINGEN_DG	22114105, 23223238, 25613900, 27509854, 28671271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	BEFREE	28671271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

NDUFA9 (NADH:ubiquinone oxidoreductase subunit A9)