DOLK

Summary

DOLK (dolichol kinase, HGNC:23406) is a protein-coding gene on chromosome 9q34.11, encoding Dolichol kinase (Q9UPQ8). Catalyzes CTP-mediated phosphorylation of dolichol, the terminal step in de novo dolichyl monophosphate (Dol-P) biosynthesis. It is a selective cancer dependency (DepMap: 43.1% of cell lines).

The protein encoded by this gene catalyzes the CTP-mediated phosphorylation of dolichol, and is involved in the synthesis of Dol-P-Man, which is an essential glycosyl carrier lipid for C- and O-mannosylation, N- and O-linked glycosylation of proteins, and for the biosynthesis of glycosyl phosphatidylinositol anchors in endoplasmic reticulum. Mutations in this gene are associated with dolichol kinase deficiency.

Source: NCBI Gene 22845 — RefSeq curated summary.

At a glance

• Gene–disease (curated): DK1-congenital disorder of glycosylation (Definitive, ClinGen) — +1 more curated relationship
• Clinical variants (ClinVar): 602 total — 7 pathogenic, 6 likely-pathogenic
• Phenotypes (HPO): 62
• Cancer dependency (DepMap): dependent in 43.1% of screened cell lines
• MANE Select transcript: NM_014908

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23406
Approved symbol	DOLK
Name	dolichol kinase
Location	9q34.11
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1094, DK1
Ensembl gene	ENSG00000175283
Ensembl biotype	protein_coding
OMIM	610746
Entrez	22845

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000372586

RefSeq mRNA: 1 — MANE Select: NM_014908 NM_014908

CCDS: CCDS6915

Canonical transcript exons

ENST00000372586 — 1 exons

Exon	Start	End
ENSE00001458157	128945530	128947603

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 88.66.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.8102 / max 48.1411, expressed in 1781 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
102716	9.0329	1757
102715	1.7773	919

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.66	gold quality
stromal cell of endometrium	CL:0002255	87.25	gold quality
endometrium epithelium	UBERON:0004811	86.23	gold quality
right adrenal gland cortex	UBERON:0035827	84.81	gold quality
right adrenal gland	UBERON:0001233	84.78	gold quality
left adrenal gland	UBERON:0001234	84.06	gold quality
left adrenal gland cortex	UBERON:0035825	83.21	gold quality
islet of Langerhans	UBERON:0000006	83.18	gold quality
endothelial cell	CL:0000115	82.92	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.79	gold quality
adrenal cortex	UBERON:0001235	82.71	gold quality
adrenal gland	UBERON:0002369	82.46	gold quality
cervix squamous epithelium	UBERON:0006922	82.30	gold quality
gingival epithelium	UBERON:0001949	81.79	silver quality
parotid gland	UBERON:0001831	81.73	gold quality
nasal cavity epithelium	UBERON:0005384	81.49	gold quality
body of stomach	UBERON:0001161	80.88	gold quality
mucosa of transverse colon	UBERON:0004991	80.85	gold quality
gingiva	UBERON:0001828	80.75	gold quality
secondary oocyte	CL:0000655	80.43	gold quality
pancreas	UBERON:0001264	80.39	gold quality
squamous epithelium	UBERON:0006914	80.34	gold quality
right testis	UBERON:0004534	80.22	gold quality
left testis	UBERON:0004533	80.09	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	80.06	gold quality
testis	UBERON:0000473	79.80	gold quality
nephron tubule	UBERON:0001231	79.80	gold quality
oocyte	CL:0000023	79.77	gold quality
metanephros	UBERON:0000081	79.69	gold quality
middle temporal gyrus	UBERON:0002771	79.69	silver quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.24
E-GEOD-110499	no	148.21

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

3 targeting DOLK, 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-3140-3P	99.88	68.47	2069
HSA-MIR-491-5P	99.13	65.98	1468
HSA-MIR-5187-3P	97.28	67.10	1037

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 43.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 5)

• dolichol kinase is a polytopic endoplasmic reticulum membrane protein with a cytoplasmically oriented CTP-binding site (PMID:16923818)
• Mutation in dolichol kinase is associated with a defect in dolichol phosphate biosynthesis causing a new inherited disorder with death in early infancy (PMID:17273964)
• We thus identified a combined deficiency of protein N-glycosylation and alpha-dystroglycan O-mannosylation in patients with nonsyndromic DCM due to autosomal recessive DOLK mutations. (PMID:22242004)
• These patients represent an earlier and more severe form of DOLK-CDG (CDG-1m) with a striking presentation at birth that expands the known phenotypic spectrum. (PMID:28816422)
• Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency. (PMID:32250540)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dolk	ENSDARG00000076991
mus_musculus	Dolk	ENSMUSG00000075419
rattus_norvegicus	Dolk	ENSRNOG00000016989
drosophila_melanogaster	Dolk	FBGN0034141
caenorhabditis_elegans		WBGENE00044233

Protein

Protein identifiers

Dolichol kinase — Q9UPQ8 (reviewed: Q9UPQ8)

Alternative names: Transmembrane protein 15

All UniProt accessions (2): A0A0S2Z597, Q9UPQ8

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes CTP-mediated phosphorylation of dolichol, the terminal step in de novo dolichyl monophosphate (Dol-P) biosynthesis. Dol-P is a lipid carrier essential for the synthesis of N-linked and O-linked oligosaccharides and for GPI anchors.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Ubiquitous.

Disease relevance. Congenital disorder of glycosylation 1M (CDG1M) [MIM:610768] A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1M is a very severe disease with death occurring in early life. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Protein modification; protein glycosylation.

Miscellaneous. Complements the defects in growth, dolichol kinase activity and protein N-glycosylation at the restrictive temperature in yeast sec59 mutant cells.

Similarity. Belongs to the polyprenol kinase family.

RefSeq proteins (1): NP_055723* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR032974	Polypren_kinase	Family

Enzyme classification (BRENDA):

• EC 2.7.1.108 — dolichol kinase (BRENDA: 11 organisms, 18 substrates, 18 inhibitors, 18 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

3 substrates with measured Km, best-characterized 3. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
CTP	0.0065–4	10
DOLICHOL	0.023–0.075	5
DCTP	0.0091	1

Catalyzed reactions (Rhea), 1 shown:

• a di-trans,poly-cis-dolichol + CTP = a di-trans,poly-cis-dolichyl phosphate + CDP + H(+) (RHEA:13133)

UniProt features (47 total): topological domain 16, transmembrane region 15, sequence variant 7, mutagenesis site 7, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UPQ8-F1	90.37	0.74

Functional residue map

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

Mutagenesis-validated functional residues (7):

Position	Phenotype
443	abolishes dolichol kinase activity.
451	reduces dolichol kinase activity.
470	reduces dolichol kinase activity. significant reduction in binding affinity for ctp; when associated with a-471.
471	reduces dolichol kinase activity. significant reduction in binding affinity for ctp.
472	reduces dolichol kinase activity. significant reduction in binding affinity for ctp.
474	no effect on dolichol kinase activity.
475	no effect on dolichol kinase activity.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-446199	Synthesis of dolichyl-phosphate
R-HSA-4755583	Defective DOLK causes DOLK-CDG

MSigDB gene sets: 256 (showing top): ELVIDGE_HYPOXIA_DN, MODULE_52, E2F_Q4_01, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, MODULE_45, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, TGACCTY_ERR1_Q2, MODULE_16, USF_C, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, YY1_Q6, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS

GO Biological Process (7): dolichyl monophosphate biosynthetic process (GO:0043048), protein N-linked glycosylation (GO:0006487), dolichyl diphosphate biosynthetic process (GO:0006489), lipid metabolic process (GO:0006629), obsolete dolichol metabolic process (GO:0019348), obsolete protein mannosylation (GO:0035268), dolichol phosphate mannose biosynthetic process (GO:0180047)

GO Molecular Function (4): dolichol kinase activity (GO:0004168), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)

GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Synthesis of substrates in N-glycan biosythesis	1
Diseases associated with glycosylation precursor biosynthesis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
phospholipid biosynthetic process	3
glycoprotein biosynthetic process	1
dolichol-linked oligosaccharide biosynthetic process	1
primary metabolic process	1
glycolipid biosynthetic process	1
terpenoid biosynthetic process	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
catalytic activity	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1286 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DOLK	PMM2	O15305	886
DOLK	DPM3	Q9P2X0	827
DOLK	DPM1	O60762	811
DOLK	DPM2	O94777	796
DOLK	SRD5A3	Q9H8P0	795
DOLK	POMGNT2	Q8NAT1	774
DOLK	GMPPB	Q9Y5P6	773
DOLK	POMT2	Q9UKY4	771
DOLK	RXYLT1	Q9Y2B1	769
DOLK	B3GALNT2	Q8NCR0	753
DOLK	POMT1	Q9Y6A1	753
DOLK	FKTN	O75072	731
DOLK	POMK	Q9H5K3	727
DOLK	POMGNT1	Q8WZA1	719
DOLK	DHDDS	Q86SQ9	716

IntAct

116 interactions, top by confidence:

A	B	Type	Score
KCNA6	DOLK	psi-mi:“MI:0915”(physical association)	0.740
LRRC4C	DOLK	psi-mi:“MI:0915”(physical association)	0.740
DOLK	EDA	psi-mi:“MI:0915”(physical association)	0.720
DOLK	KCNA3	psi-mi:“MI:0915”(physical association)	0.720
KCNA3	DOLK	psi-mi:“MI:0915”(physical association)	0.720
EDA	DOLK	psi-mi:“MI:0915”(physical association)	0.720
DOLK	CD79A	psi-mi:“MI:0915”(physical association)	0.560
KCNA10	DOLK	psi-mi:“MI:0915”(physical association)	0.560
APPBP2	DOLK	psi-mi:“MI:0915”(physical association)	0.560
KCNA1	DOLK	psi-mi:“MI:0915”(physical association)	0.560
SLC7A6	DOLK	psi-mi:“MI:0915”(physical association)	0.560
CREB3L1	DOLK	psi-mi:“MI:0915”(physical association)	0.560
GPX8	DOLK	psi-mi:“MI:0915”(physical association)	0.560
FNDC9	DOLK	psi-mi:“MI:0915”(physical association)	0.560
CHODL	DOLK	psi-mi:“MI:0915”(physical association)	0.560
FAM209A	DOLK	psi-mi:“MI:0915”(physical association)	0.560
TMEM80	DOLK	psi-mi:“MI:0915”(physical association)	0.560
SYNPR	DOLK	psi-mi:“MI:0915”(physical association)	0.560
TMEM45B	DOLK	psi-mi:“MI:0915”(physical association)	0.560
CD79A	DOLK	psi-mi:“MI:0915”(physical association)	0.560
VSIR	DOLK	psi-mi:“MI:0915”(physical association)	0.560
GJA8	DOLK	psi-mi:“MI:0915”(physical association)	0.560
KCNA5	TMEM223	psi-mi:“MI:0914”(association)	0.530
APLNR	METTL15	psi-mi:“MI:0914”(association)	0.530
SLC2A12	METTL15	psi-mi:“MI:0914”(association)	0.530

BioGRID (74): DOLK (Two-hybrid), DOLK (Affinity Capture-MS), DOLK (Affinity Capture-MS), DOLK (Affinity Capture-MS), DOLK (Two-hybrid), DOLK (Affinity Capture-MS), DOLK (Affinity Capture-MS), DOLK (Affinity Capture-MS), DOLK (Affinity Capture-MS), DOLK (Affinity Capture-MS), DOLK (Affinity Capture-MS), DOLK (Affinity Capture-MS), DOLK (Affinity Capture-MS), DOLK (Affinity Capture-MS), DOLK (Affinity Capture-MS)

ESM2 similar proteins: A0A0P0WY03, A2AJQ3, A8WXS4, A8WZ09, A8X8R3, B1Q006, I1MSF2, O42916, P53154, Q08548, Q08929, Q09758, Q17428, Q19468, Q1LZA4, Q22329, Q3SZL3, Q3T1J2, Q58CR4, Q5FVN0, Q5GKZ7, Q5R8N9, Q5U4T9, Q5ZKL6, Q6GNM0, Q6NN55, Q6P1A2, Q6ZNC8, Q6ZWT7, Q7Q3N5, Q7TN73, Q7TSN4, Q7Z388, Q7Z7B1, Q7Z888, Q8BH98, Q8C398, Q8R2Y3, Q8R3I2, Q91V01

Diamond homologs: P20048, P74653, Q58CR4, Q8R2Y3, Q9UPQ8, Q9Y7T6, F4J4C8

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
DOLK	“up-regulates quantity”	“dolichyl beta-D-mannosyl phosphate”	“chemical modification”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 74 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
Voltage gated Potassium channels	6	37.4×	1e-06
Potassium Channels	6	20.7×	2e-05
Neuronal System	6	6.8×	8e-03

GO biological processes:

GO term	Partners	Fold	FDR
action potential	6	33.6×	1e-05
potassium ion transport	5	15.0×	2e-03
potassium ion transmembrane transport	6	12.7×	2e-03
protein homooligomerization	6	11.4×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	6
Uncertain significance	372
Likely benign	172
Benign	3

Top pathogenic / likely-pathogenic (13)

Variant ID	HGVS	Classification
1131	NM_014908.4(DOLK):c.295T>A (p.Cys99Ser)	Pathogenic
1132	NM_014908.4(DOLK):c.1322A>C (p.Tyr441Ser)	Pathogenic
167005	NC_000009.12:g.128945857G>T	Pathogenic
2999843	NM_014908.4(DOLK):c.1342G>C (p.Gly448Arg)	Pathogenic
30851	NM_014908.4(DOLK):c.912G>T (p.Trp304Cys)	Pathogenic
30852	NM_014908.4(DOLK):c.3G>A (p.Met1Ile)	Pathogenic
3273477	NM_014908.4(DOLK):c.734_737del (p.Phe245fs)	Pathogenic
1335987	NM_014908.4(DOLK):c.1112T>A (p.Ile371Asn)	Likely pathogenic
1768612	NM_014908.4(DOLK):c.991C>T (p.Gln331Ter)	Likely pathogenic
30850	NM_014908.4(DOLK):c.1222C>G (p.His408Asp)	Likely pathogenic
3226330	NM_014908.4(DOLK):c.857G>A (p.Trp286Ter)	Likely pathogenic
3273481	NM_014908.4(DOLK):c.132G>A (p.Trp44Ter)	Likely pathogenic
3596477	NM_014908.4(DOLK):c.1110dup (p.Ile371fs)	Likely pathogenic

SpliceAI

146 predictions. Top by Δscore:

Variant	Effect	Δscore
9:128947550:T:G	donor_gain	0.9400
9:128946767:CA:C	acceptor_gain	0.6900
9:128946555:GAGTC:G	acceptor_gain	0.6200
9:128945903:A:AG	acceptor_gain	0.6000
9:128945904:G:GG	acceptor_gain	0.6000
9:128947541:T:TA	donor_gain	0.5900
9:128946560:C:CT	acceptor_gain	0.5700
9:128946768:A:C	acceptor_gain	0.5000
9:128947387:G:T	donor_gain	0.5000
9:128947459:C:A	donor_gain	0.5000
9:128947512:A:AC	donor_gain	0.5000
9:128947513:C:CC	donor_gain	0.5000
9:128947513:CGG:C	donor_gain	0.4900
9:128946556:AGTCC:A	acceptor_gain	0.4800
9:128947461:C:G	donor_gain	0.4800
9:128947514:G:C	donor_gain	0.4800
9:128945904:GGCCA:G	acceptor_gain	0.4600
9:128945889:GTCTT:G	acceptor_loss	0.4400
9:128945890:TCTTT:T	acceptor_loss	0.4400
9:128945891:CTTT:C	acceptor_loss	0.4400
9:128945892:TTTTT:T	acceptor_loss	0.4400
9:128945893:TTTT:T	acceptor_loss	0.4400
9:128945896:T:A	acceptor_loss	0.4400
9:128945898:GTTCC:G	acceptor_loss	0.4400
9:128945899:TTCC:T	acceptor_loss	0.4400
9:128945900:TCCAG:T	acceptor_loss	0.4400
9:128945901:CCA:C	acceptor_loss	0.4400
9:128945902:C:G	acceptor_loss	0.4400
9:128945904:GGC:G	acceptor_loss	0.4400
9:128945897:G:A	acceptor_loss	0.4300

AlphaMissense

3440 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:128945733:T:A	D524V	0.999
9:128945952:T:A	D451V	0.999
9:128945952:T:C	D451G	0.999
9:128945952:T:G	D451A	0.999
9:128945729:A:C	N525K	0.998
9:128945729:A:T	N525K	0.998
9:128945881:C:A	G475W	0.998
9:128945881:C:G	G475R	0.998
9:128945881:C:T	G475R	0.998
9:128945908:A:G	W466R	0.998
9:128945908:A:T	W466R	0.998
9:128945951:A:C	D451E	0.998
9:128945951:A:T	D451E	0.998
9:128945953:C:G	D451H	0.998
9:128946698:G:C	S202R	0.998
9:128946698:G:T	S202R	0.998
9:128946700:T:G	S202R	0.998
9:128945733:T:G	D524A	0.997
9:128945753:T:A	E517D	0.997
9:128945753:T:G	E517D	0.997
9:128945754:T:A	E517V	0.997
9:128945880:C:T	G475E	0.997
9:128945889:G:A	T472I	0.997
9:128945931:C:T	G458D	0.997
9:128945943:G:T	A454D	0.997
9:128945955:C:T	G450D	0.997
9:128945956:C:G	G450R	0.997
9:128946106:C:G	D400H	0.997
9:128946283:G:C	H341D	0.997
9:128946284:G:C	F340L	0.997

dbSNP variants (sampled 300 via entrez): RS1000280468 (9:128948315 A>G), RS1000361309 (9:128948564 G>A), RS1002414272 (9:128948015 C>T), RS1002875343 (9:128948204 C>G), RS1003180881 (9:128947616 C>A,T), RS1005548730 (9:128945405 G>A,C,T), RS1006508126 (9:128949310 C>A,T), RS1006737913 (9:128945206 G>A), RS1007271562 (9:128948911 G>A), RS1008895697 (9:128947934 A>C,G), RS1010050381 (9:128947645 G>A,T), RS1010249006 (9:128947520 G>A), RS1011729038 (9:128945983 A>G), RS1012946866 (9:128945651 T>A,C), RS1013573364 (9:128948089 C>G)

Disease associations

OMIM: gene MIM:610746 | disease phenotypes: MIM:610768, MIM:617047

GenCC curated gene-disease

Disease	Classification	Inheritance
DK1-congenital disorder of glycosylation	Definitive	Autosomal recessive
familial isolated dilated cardiomyopathy	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
DK1-congenital disorder of glycosylation	Definitive	AR

Mondo (4): DK1-congenital disorder of glycosylation (MONDO:0012556), hypertrophic cardiomyopathy 26 (MONDO:0014883), dilated cardiomyopathy (MONDO:0005021), (MONDO:0015470)

Orphanet (3): DK1-CDG (Orphanet:91131), Familial isolated restrictive cardiomyopathy (Orphanet:75249), Dilated cardiomyopathy (Orphanet:217604)

HPO phenotypes

62 total (30 of 62 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000253	Progressive microcephaly
HP:0000407	Sensorineural hearing impairment
HP:0000486	Strabismus
HP:0000505	Visual impairment
HP:0000639	Nystagmus
HP:0000653	Sparse eyelashes
HP:0000729	Autistic behavior
HP:0000817	Reduced eye contact
HP:0000958	Dry skin
HP:0000962	Hyperkeratosis
HP:0000969	Edema
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001270	Motor delay
HP:0001344	Absent speech
HP:0001508	Failure to thrive
HP:0001522	Death in infancy
HP:0001596	Alopecia
HP:0001635	Congestive heart failure
HP:0001644	Dilated cardiomyopathy
HP:0001662	Bradycardia
HP:0001727	Thromboembolic stroke
HP:0001985	Hypoketotic hypoglycemia
HP:0002013	Vomiting
HP:0002014	Diarrhea
HP:0002069	Bilateral tonic-clonic seizure
HP:0002445	Tetraplegia
HP:0002521	Hypsarrhythmia

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750
C563666	Congenital Disorder Of Glycosylation, Type Im (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Hydrogen Peroxide	affects expression, affects cotreatment, decreases expression	2
bisphenol F	affects cotreatment, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	affects expression	1
ferrous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
pentabromodiphenyl ether	decreases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Benzene	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dexamethasone	increases expression, affects cotreatment	1
Doxorubicin	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Phenobarbital	affects expression	1
Quercetin	decreases expression	1
Theophylline	affects cotreatment, decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	decreases expression	1
Valproic Acid	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cyclosporine	decreases expression	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00374465	PHASE4	UNKNOWN	Therapy With Verapamil or Carvedilol in Chronic Heart Failure
NCT01293903	PHASE4	COMPLETED	Study of Qiliqiangxin Capsule to Treat Dilated Cardiomyopathy
NCT01557140	PHASE4	COMPLETED	A Randomized Trial of Carvedilol in Chronic Chagas Cardiomyopathy
NCT01917149	PHASE4	COMPLETED	Supramaximal Titrated Inhibition of RAAS in Dilated Cardiomyopathy
NCT02115581	PHASE4	COMPLETED	Coenzyme Q10 Supplementation in Children With Idiopathic Dilated Cardiomyopathy
NCT06236022	PHASE4	RECRUITING	The Effects of Sirolimus in Patients With Dilated Cardiomyopathy Infected With Kaposi Sarcoma-associated Virus
NCT00333827	PHASE3	COMPLETED	Cell Therapy In Dilated Cardiomyopathy
NCT00505154	PHASE3	COMPLETED	Effect of Rosuvastatin on Left Ventricular Remodeling
NCT01223703	PHASE3	COMPLETED	PUFAs and Left Ventricular Function in Heart Failure
NCT01583114	PHASE3	TERMINATED	PREclinical Mutation CARriers From Families With DIlated Cardiomyopathy and ACE Inhibitors
NCT01914081	PHASE3	UNKNOWN	Resveratrol: A Potential Anti- Remodeling Agent in Heart Failure, From Bench to Bedside
NCT02989181	PHASE3	UNKNOWN	Continues Positive Airway Pressure Treatment for Patients With Dilated Cardiomyopathy and Obstructive Sleep Apnea
NCT03439514	PHASE3	TERMINATED	A Study of ARRY-371797 (PF-07265803) in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation
NCT05237323	PHASE3	COMPLETED	Micophenolate Mofetil Versus Azathioprine in Myocarditis
NCT05849766	PHASE3	COMPLETED	Effect of Dapagliflozin on Cardiac Structure, Function and Secondary Mitral Regurgitation in Patients with Left Ventricle Dysfunction
NCT06250257	PHASE3	RECRUITING	Bromocriptine in Dilated Cardiomyopathy Among Women of Reproductive Age
NCT00629018	PHASE2	COMPLETED	Safety and Efficacy Study of Stem Cell Transplantation to Treat Dilated Cardiomyopathy
NCT00629096	PHASE2	COMPLETED	Intracoronary Infusion of Autologous Bone Marrow Cells for Treatment of Idiopathic Dilated Cardiomyopathy
NCT00765518	PHASE2	COMPLETED	Use of Ixmyelocel-T (Formerly Cardiac Repair Cell [CRC] Treatment) in Patients With Heart Failure Due to Dilated Cardiomyopathy (IMPACT-DCM)
NCT00847964	PHASE2	COMPLETED	Safety and Feasibility of Algisyl-LVR™ as a Method of Left Ventricular Restoration in Patients With DCM Undergoing Open-heart Surgery
NCT01020968	PHASE2	COMPLETED	Use of Ixmyelocel-T (Formerly Catheter-based Cardiac Repair Cell [CRC]) Treatment in Patients With Heart Failure Due to Dilated Cardiomyopathy
NCT01302171	PHASE2	COMPLETED	Bone Marrow Derived Adult Stem Cells for Dilated Cardiomyopathy
NCT01350310	PHASE2	COMPLETED	Safety and Efficacy Study of Intramyocardial Stem Cell Therapy in Patients With Dilated Cardiomyopathy
NCT02133911	PHASE2	COMPLETED	A Pilot Trial of Ranolazine to Treat Patients With Dilated Cardiomyopathy
NCT03071653	PHASE2	SUSPENDED	Left Cardiac Sympathetic Denervation for Cardiomyopathy Feasibility Pilot Study
NCT03572660	PHASE2	ACTIVE_NOT_RECRUITING	Use of Bone Marrow Derived Stem Cell and G-CSF With Circulatory Assistance in the Treatment of DCM
NCT03775070	PHASE2	COMPLETED	Simvastatin Therapy in Patients With Dilated Cardiomyopathy.
NCT04405804	PHASE2	UNKNOWN	Early Administration of Ivabradine in Children With Heart Failure
NCT05410873	PHASE2	COMPLETED	Examining the Effects of Mitochondrial Oxidative Stress in DCM
NCT06632834	PHASE2	RECRUITING	Outcome-targeted Therapy: Principle and Outcome Evaluation: Clinical Study and Phenotype-genotype Correlation
NCT00585546	PHASE1	TERMINATED	Harefield Recovery Protocol Study for Patients With Refractory Chronic Heart Failure
NCT02293603	PHASE1	UNKNOWN	Dilated cardiomYopathy iNtervention With Allogeneic MyocardIally-regenerative Cells (DYNAMIC)
NCT03062956	PHASE1	COMPLETED	A Single Ascending Dose Study Assessing the Safety, Tolerability, PK and PD of MYK-491
NCT03129568	PHASE1	COMPLETED	Transcoronary Infusion of Cardiac Progenitor Cells in Pediatric Dilated Cardiomyopathy
NCT04982081	PHASE1	UNKNOWN	Treating Congestive HF With hiPSC-CMs Through Endocardial Injection
NCT06381466	PHASE1	TERMINATED	A Study to Investigate Safety, Tolerability, and Pharmacokinetics of Oral AZD0233 Compared With Placebo in Healthy Adult Participants.
NCT06464588	PHASE1	RECRUITING	A Phase 1 Open-Label Study of the Safety of Intravenous Allogeneic Neonatal Mesenchymal Cells (nMSCs) in Young Adult (1A) and Pediatric (1B) Patients With Dilated Cardiomyopathy (DCM)
NCT06902896	PHASE1	COMPLETED	Safety and Efficacy of FAP iCDC in End-stage Dilated Cardiomyopathy
NCT07137338	PHASE1	RECRUITING	A Phase 1 AAV Gene Therapy Trial Evaluating Safety and Preliminary Efficacy of RP-A701 in Subjects With BAG3 Dilated Cardiomyopathy
NCT07241104	PHASE1	RECRUITING	A Study of AZD4063 in PLN R14del Dilated Cardiomyopathy