DHRSX

Summary

DHRSX (dehydrogenase/reductase X-linked, HGNC:18399) is a protein-coding gene on chromosome Xp22.33 and Yp11.2, encoding Polyprenol dehydrogenase (Q8N5I4). Oxidoreductase that plays a key role in early steps of protein N-linked glycosylation by mediating two non-consecutive steps in dolichol biosynthesis.

Enables dolichal reductase [NAD(P)+] activity and polyprenol dehydrogenase activity. Involved in dolichol biosynthetic process and positive regulation of autophagy. Located in extracellular region. Is active in lipid droplet.

Source: NCBI Gene 207063 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital disorder of glycosylation, type 1DD (Strong, GenCC)
• Clinical variants (ClinVar): 136 total — 3 pathogenic
• Phenotypes (HPO): 31
• MANE Select transcript: NM_145177

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18399
Approved symbol	DHRSX
Name	dehydrogenase/reductase X-linked
Location	Xp22.33 and Yp11.2
Locus type	gene with protein product
Status	Approved
Aliases	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6
Ensembl gene	ENSG00000169084
Ensembl biotype	protein_coding
OMIM	301034
Entrez	207063

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000334651, ENST00000412516, ENST00000430536, ENST00000441131, ENST00000444280, ENST00000464935, ENST00000478825

RefSeq mRNA: 1 — MANE Select: NM_145177 NM_145177

CCDS: CCDS35195

Canonical transcript exons

ENST00000334651 — 7 exons

Exon	Start	End
ENSE00001487873	2219506	2221229
ENSE00001679842	2500817	2500976
ENSE00001761946	2266740	2266947
ENSE00001931920	2243023	2243230
ENSE00003532451	2291502	2291603
ENSE00003549694	2425197	2425304
ENSE00003638780	2408745	2408813

Expression profiles

Bgee: expression breadth ubiquitous, 200 present calls, max score 91.64.

FANTOM5 (CAGE): breadth broad, TPM avg 2.0096 / max 46.7731, expressed in 530 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
198288	7.4608	620
198287	1.7910	470
209889	0.1991	79
198289	0.0993	45
198285	0.0896	35
198290	0.0297	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	91.64	gold quality
ventricular zone	UBERON:0003053	90.84	gold quality
cardiac muscle of right atrium	UBERON:0003379	89.70	gold quality
left ventricle myocardium	UBERON:0006566	89.02	gold quality
ganglionic eminence	UBERON:0004023	88.67	gold quality
body of pancreas	UBERON:0001150	88.47	gold quality
apex of heart	UBERON:0002098	88.36	gold quality
right atrium auricular region	UBERON:0006631	88.18	gold quality
right lobe of liver	UBERON:0001114	87.91	gold quality
gastrocnemius	UBERON:0001388	87.68	gold quality
cardiac atrium	UBERON:0002081	87.64	gold quality
heart left ventricle	UBERON:0002084	87.07	gold quality
monocyte	CL:0000576	86.90	gold quality
liver	UBERON:0002107	86.80	gold quality
leukocyte	CL:0000738	86.76	gold quality
muscle of leg	UBERON:0001383	86.76	gold quality
adrenal tissue	UBERON:0018303	86.71	gold quality
body of stomach	UBERON:0001161	86.62	gold quality
pancreas	UBERON:0001264	86.61	gold quality
mucosa of transverse colon	UBERON:0004991	86.55	gold quality
cardiac ventricle	UBERON:0002082	86.42	gold quality
heart	UBERON:0000948	85.96	gold quality
left adrenal gland cortex	UBERON:0035825	85.58	gold quality
left adrenal gland	UBERON:0001234	85.57	gold quality
right adrenal gland	UBERON:0001233	85.33	gold quality
right adrenal gland cortex	UBERON:0035827	85.07	gold quality
right uterine tube	UBERON:0001302	85.06	gold quality
adult mammalian kidney	UBERON:0000082	84.84	gold quality
islet of Langerhans	UBERON:0000006	84.69	gold quality
myocardium	UBERON:0002349	84.69	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.51

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

108 targeting DHRSX, 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-4795-3P	100.00	74.62	4024
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489

Literature-anchored findings (GeneRIF, showing 1)

• these results demonstrate that DHRSX is a novel non-classical secretory protein involved in the positive regulation of starvation induced autophagy and provide a new avenue for research on this protein family and autophagy regulation (PMID:25076851)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:dkey-23o4.6	ENSDARG00000034577
danio_rerio	zgc:153441	ENSDARG00000054797
drosophila_melanogaster	CG2065	FBGN0033204
caenorhabditis_elegans		WBGENE00000985

Paralogs (4): KDSR (ENSG00000119537), RDH13 (ENSG00000160439), DHRS13 (ENSG00000167536), RDH14 (ENSG00000240857)

Protein

Protein identifiers

Polyprenol dehydrogenase — Q8N5I4 (reviewed: Q8N5I4)

Alternative names: DHRSXY, Dehydrogenase/reductase SDR family member on chromosome X, Dolichal reductase

All UniProt accessions (4): Q8N5I4, C9JB06, C9JRH1, H7C5T6

UniProt curated annotations — full annotation on UniProt →

Function. Oxidoreductase that plays a key role in early steps of protein N-linked glycosylation by mediating two non-consecutive steps in dolichol biosynthesis. Acts both as a NAD(+)-dependent dehydrogenase and as a NADPH-dependent reductase during the conversion of polyprenol into dolichol. First catalyzes the NAD(+)-dependent dehydrogenation of polyprenol into polyprenal; polyprenal is then reduced into dolichal by SRD5A3. It then catalyzes the NADPH-dependent reduction of dolichal into dolichol. May also acts as a positive regulator of starvation-induced autophagy.

Subcellular location. Lipid droplet. Secreted.

Tissue specificity. Widely expressed. Highly expressed in the pancreas.

Disease relevance. Congenital disorder of glycosylation 1DD (CDG1DD) [MIM:301133] 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. CDG1DD transmission pattern is consistent with pseudoautosomal recessive inheritance. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Protein modification; protein glycosylation.

Miscellaneous. The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes.

Similarity. Belongs to the short-chain dehydrogenases/reductases (SDR) family.

RefSeq proteins (1): NP_660160* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002347	SDR_fam	Family
IPR020904	Sc_DH/Rdtase_CS	Conserved_site
IPR036291	NAD(P)-bd_dom_sf	Homologous_superfamily

Pfam: PF00106

Catalyzed reactions (Rhea), 4 shown:

• a di-trans,poly-cis-polyprenol + NAD(+) = a di-trans,poly-cis-polyprenal + NADH + H(+) (RHEA:80719)
• a di-trans,poly-cis-polyprenol + NADP(+) = a di-trans,poly-cis-polyprenal + NADPH + H(+) (RHEA:80723)
• a di-trans,poly-cis-dolichol + NADP(+) = a di-trans,poly-cis-dolichal + NADPH + H(+) (RHEA:80731)
• a di-trans,poly-cis-dolichol + NAD(+) = a di-trans,poly-cis-dolichal + NADH + H(+) (RHEA:80735)

UniProt features (13 total): sequence variant 6, binding site 4, initiator methionine 1, chain 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N5I4-F1	94.90	0.85

Functional residue map

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

Catalytic / active sites (1): 208 (proton acceptor)

Ligand- & substrate-binding residues (4): 55; 208; 212; 245

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-446199	Synthesis of dolichyl-phosphate

MSigDB gene sets: 169 (showing top): GOBP_REGULATION_OF_AUTOPHAGY, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS, GOBP_POSITIVE_REGULATION_OF_AUTOPHAGY, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, SANSOM_APC_MYC_TARGETS, GOCC_ORGANELLE_SUBCOMPARTMENT

GO Biological Process (3): positive regulation of autophagy (GO:0010508), dolichyl monophosphate biosynthetic process (GO:0043048), obsolete dolichol biosynthetic process (GO:0019408)

GO Molecular Function (5): alcohol dehydrogenase (NADP+) activity (GO:0008106), polyprenol dehydrogenase (NAD+) activity (GO:0160196), dolichal reductase (NADPH) activity (GO:0160197), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)

GO Cellular Component (3): extracellular region (GO:0005576), endoplasmic reticulum membrane (GO:0005789), lipid droplet (GO:0005811)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Synthesis of substrates in N-glycan biosythesis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	2
autophagy	1
positive regulation of catabolic process	1
regulation of autophagy	1
phospholipid biosynthetic process	1
alcohol dehydrogenase [NAD(P)+] activity	1
binding	1
catalytic activity	1
cellular anatomical structure	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

3055 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DHRSX	ASMTL	O95671	740
DHRSX	PLCXD1	Q9NUJ7	721
DHRSX	AKAP17A	Q02040	692
DHRSX	ZBED1	O96006	667
DHRSX	GTPBP6	O43824	630
DHRSX	PPP2R3B	Q9Y5P8	547
DHRSX	SPRY3	O43610	541
DHRSX	SHOX	O15266	514
DHRSX	ASMT	P46597	509
DHRSX	ERMARD	Q5T6L9	507
DHRSX	PNPLA4	P41247	458
DHRSX	SLC25A6	P12236	454
DHRSX	RAB7B	Q96AH8	433
DHRSX	PUDP	Q08623	427
DHRSX	LRRC72	A6NJI9	420

IntAct

57 interactions, top by confidence:

A	B	Type	Score
DHRSX	ZBED1	psi-mi:“MI:0915”(physical association)	0.590
	DHRSX	psi-mi:“MI:0915”(physical association)	0.560
AQP6	DHRSX	psi-mi:“MI:0915”(physical association)	0.560
DHRSX	CIDEB	psi-mi:“MI:0915”(physical association)	0.560
DHRSX	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
ASPH	DHRSX	psi-mi:“MI:0915”(physical association)	0.560
DHRSX	FADS3	psi-mi:“MI:0915”(physical association)	0.560
PGRMC2	DHRSX	psi-mi:“MI:0915”(physical association)	0.560
DHRSX	TMEM14B	psi-mi:“MI:0915”(physical association)	0.560
DHRSX	RUSF1	psi-mi:“MI:0915”(physical association)	0.560
RETREG3	DHRSX	psi-mi:“MI:0915”(physical association)	0.560
DHRSX	CMTM5	psi-mi:“MI:0915”(physical association)	0.560
DHRSX	TLCD4	psi-mi:“MI:0915”(physical association)	0.560
DHRSX	TMEM143	psi-mi:“MI:0915”(physical association)	0.560
DHRSX	ZDHHC15	psi-mi:“MI:0915”(physical association)	0.560
APOC1	DHRSX	psi-mi:“MI:0915”(physical association)	0.560
DHRSX	TMEM86B	psi-mi:“MI:0915”(physical association)	0.560
PIGP	DHRSX	psi-mi:“MI:0915”(physical association)	0.560
DHRSX	GCNT3	psi-mi:“MI:0915”(physical association)	0.370
ATXN1	DHRSX	psi-mi:“MI:0915”(physical association)	0.370
DHRSX		psi-mi:“MI:0915”(physical association)	0.000
DHRSX	HSD17B11	psi-mi:“MI:0915”(physical association)	0.000
ASPH	DHRSX	psi-mi:“MI:0915”(physical association)	0.000
DHRSX	FADS3	psi-mi:“MI:0915”(physical association)	0.000
DHRSX	PGRMC2	psi-mi:“MI:0915”(physical association)	0.000
DHRSX	TMEM14B	psi-mi:“MI:0915”(physical association)	0.000
DHRSX	RUSF1	psi-mi:“MI:0915”(physical association)	0.000
DHRSX	RETREG3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (25): ZBED1 (Affinity Capture-MS), ZBED1 (Affinity Capture-MS), DHRSX (Affinity Capture-RNA), DHRSX (Two-hybrid), DHRSX (Two-hybrid), DHRSX (Two-hybrid), DHRSX (Two-hybrid), DHRSX (Two-hybrid), DHRSX (Two-hybrid), DHRSX (Two-hybrid), DHRSX (Two-hybrid), DHRSX (Two-hybrid), DHRSX (Two-hybrid), DHRSX (Two-hybrid), TMEM31 (Two-hybrid)

ESM2 similar proteins: A0A078IS66, A0A078ISJ6, A0A0B6VQ48, A0A0U5CNP2, A0A1V0QS34, A0A2H3CNT9, A0A2H3CZZ2, A0A2H3D905, A0A3Q8GLE8, A0A3Q8GYY4, A0AAW1NHX6, A2RVM0, A4UHT7, B2X050, B8A5W4, G7IYC1, G7JEE5, O66148, O70503, O74959, P40579, P40580, P59837, Q071N0, Q53GQ0, Q58NB6, Q59987, Q5E9H7, Q5F389, Q5R9W5, Q6P7R8, Q6QA33, Q6RVV4, Q7Q732, Q7SHI2, Q8BYK4, Q8CEE7, Q8N5I4, Q8NBN7, Q8TC12

Diamond homologs: A0A017SEY2, A0A023I4F1, A0A078IS66, A0A078ISJ6, A0A0U1LQE2, A0A0U5CNP2, A0A1B7YCL6, A0A1V0QS34, A0A1V6PAN1, A0A223HDI5, A0A2H3CNT9, A0A2H3D905, A0A443HJZ3, A0A482ND39, A0A823A767, A0PJE2, A2RVM0, A6QP05, B2X050, B6H062, B8A5W4, C8VI80, D7UTD0, G1XTZ5, I1RL15, O32291, O74959, P0DXW2, P16152, P19871, P21218, P35320, P40747, P47727, P50163, P51657, P59837, Q01289, Q03326, Q08651

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	6
Likely benign	5
Benign	11

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
144706	GRCh38/hg38 Xp22.33-22.31(chrX:10679-9459643)x1	Pathogenic
3376532	NM_145177.3(DHRSX):c.541G>T (p.Val181Phe)	Pathogenic
58023	GRCh38/hg38 Yp11.2(chrY:2210832-2525377)x0	Pathogenic

SpliceAI

2796 predictions. Top by Δscore:

Variant	Effect	Δscore
X:2243017:GCTTA:G	donor_loss	1.0000
X:2243018:CTTA:C	donor_loss	1.0000
X:2243019:TTA:T	donor_loss	1.0000
X:2243020:TACC:T	donor_loss	1.0000
X:2243021:A:AC	donor_gain	1.0000
X:2243022:C:A	donor_loss	1.0000
X:2243022:C:CC	donor_gain	1.0000
X:2243226:AGGCA:A	acceptor_gain	1.0000
X:2243227:GGCA:G	acceptor_gain	1.0000
X:2243228:GCA:G	acceptor_gain	1.0000
X:2243229:CA:C	acceptor_gain	1.0000
X:2243229:CAC:C	acceptor_gain	1.0000
X:2243230:ACT:A	acceptor_loss	1.0000
X:2243231:C:CC	acceptor_gain	1.0000
X:2243231:CT:C	acceptor_loss	1.0000
X:2243232:T:C	acceptor_loss	1.0000
X:2266736:CTA:C	donor_loss	1.0000
X:2266737:TAC:T	donor_loss	1.0000
X:2266739:CCTG:C	donor_gain	1.0000
X:2266943:CCCAG:C	acceptor_gain	1.0000
X:2266944:CCAG:C	acceptor_gain	1.0000
X:2266944:CCAGC:C	acceptor_gain	1.0000
X:2266945:CAG:C	acceptor_gain	1.0000
X:2266945:CAGC:C	acceptor_gain	1.0000
X:2266946:AGC:A	acceptor_loss	1.0000
X:2266947:GCTG:G	acceptor_loss	1.0000
X:2266948:C:CC	acceptor_gain	1.0000
X:2291495:GACTC:G	donor_loss	1.0000
X:2291496:ACT:A	donor_loss	1.0000
X:2291497:CTC:C	donor_loss	1.0000

AlphaMissense

4274 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
Y:2221077:A:C	S319R	0.992
Y:2221077:A:T	S319R	0.992
Y:2221079:T:G	S319R	0.992
Y:2266868:G:C	F156L	0.983
Y:2266868:G:T	F156L	0.983
Y:2266870:A:G	F156L	0.983
Y:2243194:G:C	S211R	0.982
Y:2243194:G:T	S211R	0.982
Y:2243196:T:G	S211R	0.982
Y:2243195:C:A	S211I	0.981
Y:2425274:A:T	I47K	0.981
Y:2266800:A:T	V179D	0.977
Y:2425277:G:T	A46D	0.975
Y:2243162:A:G	L222P	0.972
Y:2243191:C:A	K212N	0.971
Y:2243191:C:G	K212N	0.971
Y:2221192:G:T	A281E	0.970
Y:2243192:T:G	K212T	0.970
Y:2221193:C:G	A281P	0.968
Y:2243192:T:A	K212M	0.968
Y:2425205:A:T	V70D	0.968
Y:2243023:C:A	K268N	0.967
Y:2243023:C:G	K268N	0.967
Y:2425271:A:T	V48E	0.966
Y:2266876:C:A	G154W	0.963
Y:2291506:G:C	N128K	0.963
Y:2291506:G:T	N128K	0.963
Y:2291596:A:C	F98L	0.963
Y:2291596:A:T	F98L	0.963
Y:2291598:A:G	F98L	0.963

dbSNP variants (sampled 300 via entrez): RS1000002895 (X:2369991 T>C), RS1000012343 (X:2388320 A>G), RS1000032695 (X:2429343 T>C), RS1000048346 (X:2342234 G>A), RS1000065975 (X:2220152 TC>T), RS1000079131 (X:2387966 G>A), RS1000101125 (X:2235844 T>G), RS1000105442 (X:2342559 C>A,T), RS1000112800 (X:2418229 A>G), RS1000128663 (X:2256060 T>C), RS1000137561 (X:2355146 C>G), RS1000141877 (X:2316126 T>A,C), RS1000171547 (X:2486377 G>A), RS1000215340 (X:2336295 A>C), RS1000216073 (X:2299792 T>C,G)

Disease associations

OMIM: gene MIM:301034 | disease phenotypes: MIM:301133

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital disorder of glycosylation, type 1DD	Strong	Autosomal recessive

Mondo (1): congenital disorder of glycosylation, type 1DD (MONDO:0975846)

Orphanet (0):

HPO phenotypes

31 total (30 of 31 shown, HPO-id order):

HPO	Term
HP:0000407	Sensorineural hearing impairment
HP:0000964	Eczematoid dermatitis
HP:0000998	Hypertrichosis
HP:0001250	Seizure
HP:0001396	Cholestasis
HP:0001508	Failure to thrive
HP:0001643	Patent ductus arteriosus
HP:0001744	Splenomegaly
HP:0001999	Abnormal facial shape
HP:0002020	Gastroesophageal reflux
HP:0002093	Respiratory insufficiency
HP:0002104	Apnea
HP:0002187	Profound intellectual disability
HP:0002240	Hepatomegaly
HP:0002650	Scoliosis
HP:0002870	Obstructive sleep apnea
HP:0003593	Infantile onset
HP:0003642	Type I transferrin isoform profile
HP:0008064	Ichthyosis
HP:0008936	Axial hypotonia
HP:0010307	Stridor
HP:0011344	Severe global developmental delay
HP:0011393	Aplasia of the vestibular nerve
HP:0011471	Gastrostomy tube feeding in infancy
HP:0033725	Thin corpus callosum
HP:0034341	Pseudoautosomal recessive inheritance
HP:0034391	Elbow contracture
HP:0034671	Knee contracture
HP:0034782	Obstipation
HP:0200020	Corneal erosion

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

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression	6
Benzo(a)pyrene	decreases expression	4
Aflatoxin B1	decreases expression	2
methylmercuric chloride	decreases expression	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
trichostatin A	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	increases expression	1
Air Pollutants	increases abundance, affects expression	1
Doxorubicin	decreases expression	1
Ozone	increases abundance, affects expression	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Copper Sulfate	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E1VM	HAP1 DHRSX (-) 1	Cancer cell line	Male
CVCL_E1VN	HAP1 DHRSX (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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