NAXD

Summary

NAXD (NAD(P)HX dehydratase, HGNC:25576) is a protein-coding gene on chromosome 13q34, encoding ATP-dependent (S)-NAD(P)H-hydrate dehydratase (Q8IW45). Catalyzes the dehydration of the S-form of NAD(P)HX at the expense of ATP, which is converted to ADP.

Enables ATP-dependent NAD(P)H-hydrate dehydratase activity. Predicted to be involved in metabolite repair. Located in mitochondrion.

Source: NCBI Gene 55739 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial disease (Definitive, ClinGen) — +1 more curated relationship
• Clinical variants (ClinVar): 186 total — 9 pathogenic, 8 likely-pathogenic
• Phenotypes (HPO): 46
• MANE Select transcript: NM_001242882

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25576
Approved symbol	NAXD
Name	NAD(P)HX dehydratase
Location	13q34
Locus type	gene with protein product
Status	Approved
Aliases	LP3298, FLJ10769
Ensembl gene	ENSG00000213995
Ensembl biotype	protein_coding
OMIM	615910
Entrez	55739

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 17 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000309957, ENST00000424185, ENST00000470164, ENST00000679389, ENST00000679968, ENST00000680254, ENST00000680312, ENST00000680505, ENST00000908005, ENST00000908006, ENST00000908007, ENST00000908008, ENST00000932772, ENST00000957152, ENST00000957153, ENST00000957154, ENST00000957155, ENST00000957156, ENST00000957157

RefSeq mRNA: 4 — MANE Select: NM_001242882 NM_001242881, NM_001242882, NM_001242883, NM_018210

CCDS: CCDS55903, CCDS91835, CCDS91836, CCDS9513

Canonical transcript exons

ENST00000680254 — 10 exons

Exon	Start	End
ENSE00001547090	110615545	110615647
ENSE00001745705	110625190	110625278
ENSE00003472879	110637129	110637249
ENSE00003518581	110622216	110622366
ENSE00003548479	110624234	110624279
ENSE00003558264	110635468	110635588
ENSE00003575390	110627439	110627547
ENSE00003586730	110634672	110634776
ENSE00003634861	110634545	110634595
ENSE00003910576	110638378	110639996

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 96.75.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.9114 / max 88.6392, expressed in 1761 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
136070	12.3505	1759
207105	0.5609	305

Top tissues by expression

293 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
cardia of stomach	UBERON:0001162	96.75	gold quality
left ovary	UBERON:0002119	95.74	gold quality
right adrenal gland cortex	UBERON:0035827	95.29	gold quality
pylorus	UBERON:0001166	95.24	gold quality
right lobe of liver	UBERON:0001114	95.17	gold quality
adrenal cortex	UBERON:0001235	94.87	gold quality
renal medulla	UBERON:0000362	94.83	gold quality
right ovary	UBERON:0002118	94.82	gold quality
right adrenal gland	UBERON:0001233	94.77	gold quality
postcentral gyrus	UBERON:0002581	94.67	gold quality
left adrenal gland	UBERON:0001234	94.64	gold quality
left adrenal gland cortex	UBERON:0035825	94.62	gold quality
fundus of stomach	UBERON:0001160	94.52	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.46	gold quality
parietal lobe	UBERON:0001872	94.36	gold quality
body of stomach	UBERON:0001161	94.33	gold quality
cerebellar hemisphere	UBERON:0002245	94.31	gold quality
cerebellar cortex	UBERON:0002129	94.22	gold quality
cerebellum	UBERON:0002037	94.18	gold quality
lower esophagus mucosa	UBERON:0035834	94.12	gold quality
middle temporal gyrus	UBERON:0002771	94.07	gold quality
muscle layer of sigmoid colon	UBERON:0035805	94.07	gold quality
adrenal gland	UBERON:0002369	94.00	gold quality
right frontal lobe	UBERON:0002810	93.96	gold quality
tibia	UBERON:0000979	93.95	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	93.85	gold quality
putamen	UBERON:0001874	93.77	gold quality
ovary	UBERON:0000992	93.70	gold quality
amygdala	UBERON:0001876	93.69	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.63	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-100618	yes	407.78
E-ANND-3	yes	5.62

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

28 targeting NAXD, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-3128	99.50	67.85	1258
HSA-MIR-5571-5P	99.49	66.99	1764
HSA-MIR-516A-3P	99.46	67.96	1378
HSA-MIR-516B-3P	99.46	67.96	1378
HSA-MIR-7162-5P	99.46	68.08	1368
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-488-5P	99.28	68.12	821
HSA-MIR-511-5P	98.97	70.94	2268
HSA-MIR-2355-5P	98.83	65.51	1589
HSA-MIR-6830-3P	98.62	68.07	1760
HSA-MIR-1972	97.67	67.38	1172
HSA-MIR-7112-3P	97.67	68.77	948
HSA-MIR-3144-5P	97.64	65.45	646
HSA-MIR-558	97.50	67.16	977
HSA-MIR-6890-3P	97.50	65.71	997
HSA-MIR-4288	97.11	67.23	1636
HSA-MIR-3139	96.68	66.77	652
HSA-MIR-28-5P	96.16	66.12	579
HSA-MIR-708-5P	96.16	66.12	576
HSA-MIR-632	96.08	67.17	798
HSA-MIR-2114-5P	96.00	64.56	617
HSA-MIR-6853-5P	93.94	61.88	114
HSA-MIR-3186-5P	87.11	67.29	51

Literature-anchored findings (GeneRIF, showing 2)

• Wide tissue distribution of dehydratase and epimerase is consistent with mRNA data for Carkd and Aibp, and their presence in both mitochondria and cytosol is explained by the existence of differently targeted forms of CARKD and AIBP. (PMID:24611804)
• results show that NAXD deficiency can be classified as a metabolite repair disorder in which accumulation of damaged metabolites likely triggers devastating effects in tissues such as the brain and the heart, eventually leading to early childhood death. (PMID:30576410)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	naxd	ENSDARG00000077119
mus_musculus	Naxd	ENSMUSG00000031505
rattus_norvegicus	Naxd	ENSRNOG00000015021
drosophila_melanogaster	Naxd	FBGN0036848
caenorhabditis_elegans		WBGENE00011298

Protein

Protein identifiers

ATP-dependent (S)-NAD(P)H-hydrate dehydratase — Q8IW45 (reviewed: Q8IW45)

Alternative names: ATP-dependent NAD(P)HX dehydratase, Carbohydrate kinase domain-containing protein, NAD(P)HX dehydratase

All UniProt accessions (5): A0A7P0T906, A0A7P0T9D8, A0A7P0T9R3, A0A7P0TAU0, Q8IW45

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the dehydration of the S-form of NAD(P)HX at the expense of ATP, which is converted to ADP. Together with NAD(P)HX epimerase, which catalyzes the epimerization of the S- and R-forms, the enzyme allows the repair of both epimers of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration.

Subcellular location. Mitochondrion.

Disease relevance. Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 (PEBEL2) [MIM:618321] An autosomal recessive severe neurometabolic disorder characterized by severe leukoencephalopathy usually associated with a trivial febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures. Disease course is rapidly progressive, leading to coma, global brain atrophy, and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. This protein may be expected to contain an N-terminal transit peptide but none has been predicted.

Similarity. Belongs to the NnrD/CARKD family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q8IW45-1	1	yes
Q8IW45-2	2
Q8IW45-3	3
Q8IW45-4	4

RefSeq proteins (4): NP_001229810, NP_001229811, NP_001229812, NP_060680 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000631	CARKD	Domain
IPR029056	Ribokinase-like	Homologous_superfamily

Pfam: PF01256

Enzyme classification (BRENDA):

• EC 4.2.1.93 — ATP-dependent NAD(P)H-hydrate dehydratase (BRENDA: 8 organisms, 10 substrates, 1 inhibitors, 4 Km, 4 kcat entries)

Substrate kinetics (BRENDA)

2 substrates with measured Km, best-characterized 2. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
(6S)-6BETA-HYDROXY-1,4,5,6-TETRAHYDRONICOTINAMID	0.0009–0.0011	2
(6S)-6BETA-HYDROXY-1,4,5,6-TETRAHYDRONICOTINAMID	0.0007–0.0009	2

Catalyzed reactions (Rhea), 2 shown:

• (6S)-NADHX + ATP = ADP + phosphate + NADH + H(+) (RHEA:19017)
• (6S)-NADPHX + ATP = ADP + phosphate + NADPH + H(+) (RHEA:32231)

UniProt features (20 total): sequence variant 5, binding site 5, splice variant 3, sequence conflict 2, glycosylation site 2, chain 1, domain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IW45-F1	89.70	0.78

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (5): 153; 206–212; 246–250; 265–274; 275

Post-translational modifications (1): 85

Glycosylation sites (2): 240, 297

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-196807	Nicotinate metabolism

MSigDB gene sets: 157 (showing top): GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, CAIRO_HEPATOBLASTOMA_CLASSES_DN, chr13q34, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, BENPORATH_NOS_TARGETS, GOMF_HYDRO_LYASE_ACTIVITY, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, GOBP_ALKALOID_METABOLIC_PROCESS, BENPORATH_OCT4_TARGETS, GOCC_MITOCHONDRIAL_MATRIX, REACTOME_METABOLISM_OF_VITAMINS_AND_COFACTORS

GO Biological Process (4): nicotinamide nucleotide metabolic process (GO:0046496), metabolite repair (GO:0110051), nicotinate metabolic process (GO:1901847), NAD+ biosynthetic process via the salvage pathway (GO:0034355)

GO Molecular Function (6): ATP binding (GO:0005524), ATP-dependent NAD(P)H-hydrate dehydratase activity (GO:0047453), nucleotide binding (GO:0000166), protein binding (GO:0005515), lyase activity (GO:0016829), hydro-lyase activity (GO:0016836)

GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Metabolism of water-soluble vitamins and cofactors	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
pyridine-containing compound metabolic process	2
nucleotide metabolic process	1
metabolic process	1
alkaloid metabolic process	1
monocarboxylic acid metabolic process	1
NAD+ biosynthetic process	1
pyridine nucleotide salvage	1
purine nucleotide salvage	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
hydro-lyase activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
carbon-oxygen lyase activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

1340 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NAXD	NAXE	Q8NCW5	864
NAXD	E7ENQ6	E7ENQ6	674
NAXD	YJEFN3	A6XGL0	549
NAXD	PNPO	Q9NVS9	541
NAXD	ECHDC1	Q9NTX5	494
NAXD	TSNARE1	Q96NA8	492
NAXD	TXLNG	Q9NUQ3	490
NAXD	PLSCR5	A0PG75	400
NAXD	RAB20	Q9NX57	392
NAXD	BIVM	Q86UB2	384
NAXD	NKAIN3	Q8N8D7	373
NAXD	HAAO	P46952	369
NAXD	PM20D2	Q8IYS1	367
NAXD	CCDC60	Q8IWA6	367
NAXD	SEC24D	O94855	359

IntAct

77 interactions, top by confidence:

A	B	Type	Score
JUNB	FOS	psi-mi:“MI:0914”(association)	0.950
SGTA	NAXD	psi-mi:“MI:0915”(physical association)	0.780
NAXD	SGTA	psi-mi:“MI:0915”(physical association)	0.780
NAXD	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-8	NAXD	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-7	NAXD	psi-mi:“MI:0915”(physical association)	0.720
NAXD	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.720
FGL1	LCMT2	psi-mi:“MI:0914”(association)	0.640
EIF1AD	NAXD	psi-mi:“MI:0914”(association)	0.620
EIF1AD	NAXD	psi-mi:“MI:0915”(physical association)	0.620
	NAXD	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-9	NAXD	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-9	NAXD	psi-mi:“MI:0915”(physical association)	0.560
NAXD	KRT31	psi-mi:“MI:0915”(physical association)	0.560
NOTCH2NLA	NAXD	psi-mi:“MI:0915”(physical association)	0.560
NAXD	UBQLN1	psi-mi:“MI:0915”(physical association)	0.560
UBQLN1	NAXD	psi-mi:“MI:0915”(physical association)	0.560
NAXD		psi-mi:“MI:0915”(physical association)	0.560
KRT31	NAXD	psi-mi:“MI:0915”(physical association)	0.560
NAXD	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (76): CARKD (Two-hybrid), CARKD (Two-hybrid), CARKD (Two-hybrid), CARKD (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-9 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-3 (Two-hybrid), NOTCH2NL (Two-hybrid), CARKD (Affinity Capture-RNA), CARKD (Affinity Capture-RNA), CARKD (Affinity Capture-RNA), CARKD (Affinity Capture-MS), CARKD (Co-fractionation), CARKD (Co-fractionation)

ESM2 similar proteins: A1L258, B5DEQ3, B7ZMP1, B8B7X6, D4AAT7, F1QXM5, O00116, O04015, O04226, O23240, O45218, O46504, O65361, P31754, P32232, P32296, P46681, P52624, P54887, P54888, P84850, P87228, P97275, Q01415, Q1JPD3, Q3KRD0, Q5M7W7, Q5R6J8, Q5R824, Q68FH4, Q6PI48, Q7TNG8, Q7TSQ8, Q7XI14, Q86WU2, Q8BIP0, Q8C0I1, Q8CIM3, Q8IW45, Q8NCN5

Diamond homologs: A0RU82, A1S0R2, A2BLC0, A4HW65, A7IA08, A8N8Z0, A9A498, B1L3W1, B5YIM0, B7PBI5, B8E2P6, B8FJW2, B8GJF9, C0QWJ2, C4LZV8, C4YSU5, C5D2N0, C5Y210, C7YKN8, D1BAA5, D2RXF6, D3BMU4, D3SQW0, D4AAT7, E0VSF4, E1BNQ4, E2QUI9, F1Q575, F4NZ38, F6HDM2, F6RCC2, F7E727, O27324, O29407, P31806, P37391, P94368, P96051, P9WF10, P9WF11

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 45 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Keratinization	8	13.5×	3e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

186 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	9
Likely pathogenic	8
Uncertain significance	65
Likely benign	60
Benign	16

Top pathogenic / likely-pathogenic (17)

Variant ID	HGVS	Classification
1703002	NM_001242882.2(NAXD):c.318C>G (p.Ile106Met)	Pathogenic
1703003	NM_001242882.2(NAXD):c.102_103del (p.Thr35fs)	Pathogenic
1997101	NM_001242882.2(NAXD):c.439C>T (p.Gln147Ter)	Pathogenic
2426457	NC_000013.10:g.(?111268022)(111274733_?)del	Pathogenic
617756	NM_001242882.2(NAXD):c.839+1G>T	Pathogenic
617757	NM_001242882.2(NAXD):c.948_949insTT (p.Ala317fs)	Pathogenic
617758	NM_001242882.2(NAXD):c.187G>A (p.Gly63Ser)	Pathogenic
617759	NM_001242882.2(NAXD):c.54_57del (p.Ala20fs)	Pathogenic
978059	NM_001242882.2(NAXD):c.44del (p.Arg15fs)	Pathogenic
1683695	NM_001242882.2(NAXD):c.715C>T (p.Gln239Ter)	Likely pathogenic
1699273	NM_001242882.2(NAXD):c.441+3A>G	Likely pathogenic
2024675	NM_001242882.2(NAXD):c.442-2A>G	Likely pathogenic
2444094	NM_001242882.2(NAXD):c.442-1G>A	Likely pathogenic
3341304	NM_001242882.2(NAXD):c.514C>T (p.Gln172Ter)	Likely pathogenic
3376781	NM_001242882.2(NAXD):c.848del (p.Pro283fs)	Likely pathogenic
3377366	NM_001242882.2(NAXD):c.704C>T (p.Ser235Phe)	Likely pathogenic
3891809	NM_001242882.2(NAXD):c.238A>T (p.Lys80Ter)	Likely pathogenic

SpliceAI

1812 predictions. Top by Δscore:

Variant	Effect	Δscore
13:110622211:TTCA:T	acceptor_loss	1.0000
13:110622213:CAGTT:C	acceptor_loss	1.0000
13:110622214:A:AC	acceptor_loss	1.0000
13:110622214:A:AG	acceptor_gain	1.0000
13:110622215:G:GG	acceptor_gain	1.0000
13:110622215:GT:G	acceptor_gain	1.0000
13:110622215:GTT:G	acceptor_gain	1.0000
13:110622215:GTTTT:G	acceptor_gain	1.0000
13:110622364:GGA:G	donor_gain	1.0000
13:110622365:GA:G	donor_gain	1.0000
13:110622365:GAG:G	donor_gain	1.0000
13:110622367:G:GG	donor_gain	1.0000
13:110624277:GTG:G	donor_gain	1.0000
13:110625274:GTTCT:G	donor_gain	1.0000
13:110625279:G:GG	donor_gain	1.0000
13:110625304:G:GG	donor_gain	1.0000
13:110627437:A:AG	acceptor_gain	1.0000
13:110627438:G:GG	acceptor_gain	1.0000
13:110635455:T:TA	acceptor_gain	1.0000
13:110635457:T:TA	acceptor_gain	1.0000
13:110635460:T:A	acceptor_gain	1.0000
13:110635465:T:G	acceptor_gain	1.0000
13:110635466:A:AG	acceptor_gain	1.0000
13:110635466:A:G	acceptor_loss	1.0000
13:110635467:G:GA	acceptor_gain	1.0000
13:110635467:GC:G	acceptor_gain	1.0000
13:110635467:GCTC:G	acceptor_gain	1.0000
13:110635467:GCTCA:G	acceptor_gain	1.0000
13:110635584:GCAGG:G	donor_gain	1.0000
13:110635585:CAGG:C	donor_loss	1.0000

AlphaMissense

2123 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000052717 (13:110624069 A>G), RS1000104796 (13:110623828 C>G,T), RS1000180917 (13:110637835 C>T), RS1000290229 (13:110619236 C>G,T), RS1000346370 (13:110624905 C>G), RS1000483660 (13:110614114 G>T), RS1000513830 (13:110615297 G>C), RS1000557834 (13:110613957 C>A), RS1000564118 (13:110614238 C>G), RS1000584758 (13:110619897 C>G), RS1000684631 (13:110620425 C>A,G), RS1000931243 (13:110630016 CT>C,CTT), RS1001103326 (13:110638157 A>G), RS1001157627 (13:110624978 G>T), RS1001201101 (13:110615097 G>A)

Disease associations

OMIM: gene MIM:615910 | disease phenotypes: MIM:618321

GenCC curated gene-disease

Disease	Classification	Inheritance
NAD(P)HX dehydratase deficiency	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
mitochondrial disease	Definitive	AR

Mondo (1): NAD(P)HX dehydratase deficiency (MONDO:0034121)

Orphanet (1): NAD(P)HX dehydratase deficiency (Orphanet:555402)

HPO phenotypes

46 total (30 of 46 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000518	Cataract
HP:0000602	Ophthalmoplegia
HP:0000708	Atypical behavior
HP:0000718	Aggressive behavior
HP:0000737	Irritability
HP:0000750	Delayed speech and language development
HP:0000988	Skin rash
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001254	Lethargy
HP:0001263	Global developmental delay
HP:0001298	Encephalopathy
HP:0001332	Dystonia
HP:0001336	Myoclonus
HP:0001644	Dilated cardiomyopathy
HP:0001649	Tachycardia
HP:0001712	Left ventricular hypertrophy
HP:0001876	Pancytopenia
HP:0001954	Recurrent fever
HP:0002013	Vomiting
HP:0002014	Diarrhea
HP:0002059	Cerebral atrophy
HP:0002066	Gait ataxia
HP:0002072	Chorea
HP:0002119	Ventriculomegaly
HP:0002151	Increased circulating lactate concentration
HP:0002171	Gliosis
HP:0002180	Neurodegeneration
HP:0002181	Cerebral edema

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation, decreases expression	2
sodium arsenite	increases expression	1
K 7174	increases expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
PCI 5002	increases expression, affects cotreatment	1
Resveratrol	increases expression, affects cotreatment	1
Fulvestrant	affects cotreatment, increases methylation	1
Arsenic	affects methylation	1
Plant Extracts	affects cotreatment, increases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Zinc	affects cotreatment, increases expression	1
Aflatoxin B1	increases methylation	1
Copper Sulfate	increases expression	1
tert-Butylhydroperoxide	decreases expression	1

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D6NP	BCHNDi001-A	Induced pluripotent stem cell	Male
CVCL_SG80	HAP1 CARKD (-) 1	Cancer cell line	Male
CVCL_SG81	HAP1 CARKD (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.