HEPHL1

Summary

HEPHL1 (hephaestin like 1, HGNC:30477) is a protein-coding gene on chromosome 11q21, encoding Ferroxidase HEPHL1 (Q6MZM0). Is a copper-binding glycoprotein with ferroxidase activity.

Enables ferroxidase activity. Involved in intracellular iron ion homeostasis. Predicted to be located in membrane. Predicted to be active in plasma membrane.

Source: NCBI Gene 341208 — RefSeq curated summary.

At a glance

• Gene–disease (curated): pili torti-developmental delay-neurological abnormalities syndrome (Limited, ClinGen)
• GWAS associations: 1
• Clinical variants (ClinVar): 237 total — 4 likely-pathogenic
• Phenotypes (HPO): 32
• MANE Select transcript: NM_001098672

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30477
Approved symbol	HEPHL1
Name	hephaestin like 1
Location	11q21
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp686F22190, Zp
Ensembl gene	ENSG00000181333
Ensembl biotype	protein_coding
OMIM	618455
Entrez	341208

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000315765

RefSeq mRNA: 1 — MANE Select: NM_001098672 NM_001098672

CCDS: CCDS44710

Canonical transcript exons

ENST00000315765 — 20 exons

Exon	Start	End
ENSE00000989435	94104528	94104750
ENSE00000989436	94105991	94106130
ENSE00001165962	94102914	94103020
ENSE00001165969	94101195	94101335
ENSE00001165977	94093501	94093640
ENSE00001367801	94111692	94114208
ENSE00001373945	94111537	94111605
ENSE00001391552	94110903	94111065
ENSE00001506268	94088755	94088968
ENSE00001506269	94085977	94086189
ENSE00001506270	94082418	94082568
ENSE00001506271	94075174	94075385
ENSE00001506272	94073308	94073439
ENSE00001506273	94073025	94073164
ENSE00001506274	94070374	94070542
ENSE00001506275	94067496	94067750
ENSE00001506276	94064331	94064510
ENSE00001506277	94063508	94063720
ENSE00001506278	94045673	94045917
ENSE00001506279	94021354	94021538

Expression profiles

Bgee: expression breadth broad, 60 present calls, max score 76.94.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.9926 / max 805.9660, expressed in 75 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
116248	1.9419	73
116247	0.0362	12
116249	0.0145	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.94	gold quality
esophagus mucosa	UBERON:0002469	64.28	gold quality
tonsil	UBERON:0002372	64.23	gold quality
lower esophagus mucosa	UBERON:0035834	63.58	gold quality
vagina	UBERON:0000996	55.47	gold quality
esophagus	UBERON:0001043	51.02	gold quality
skin of abdomen	UBERON:0001416	50.65	gold quality
stromal cell of endometrium	CL:0002255	49.60	silver quality
zone of skin	UBERON:0000014	49.31	gold quality
placenta	UBERON:0001987	48.84	gold quality
skeletal muscle tissue	UBERON:0001134	48.65	gold quality
skin of leg	UBERON:0001511	48.36	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	48.11	silver quality
calcaneal tendon	UBERON:0003701	48.02	silver quality
uterine cervix	UBERON:0000002	46.45	gold quality
adrenal tissue	UBERON:0018303	46.42	silver quality
ectocervix	UBERON:0012249	46.22	gold quality
minor salivary gland	UBERON:0001830	45.32	gold quality
saliva-secreting gland	UBERON:0001044	44.97	gold quality
right lobe of thyroid gland	UBERON:0001119	44.49	gold quality
bone marrow cell	CL:0002092	44.12	gold quality
thyroid gland	UBERON:0002046	43.81	gold quality
left lobe of thyroid gland	UBERON:0001120	43.73	gold quality
monocyte	CL:0000576	43.27	gold quality
ventricular zone	UBERON:0003053	43.23	gold quality
right lobe of liver	UBERON:0001114	43.19	silver quality
vermiform appendix	UBERON:0001154	43.17	gold quality
sural nerve	UBERON:0015488	42.94	silver quality
leukocyte	CL:0000738	42.51	gold quality
adult mammalian kidney	UBERON:0000082	42.03	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.87

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

114 targeting HEPHL1, 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-5692A	100.00	74.40	6850
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-10527-5P	99.91	72.28	3754

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	f8	ENSDARG00000101385
mus_musculus	Hephl1	ENSMUSG00000031936
rattus_norvegicus	Hephl1	ENSRNOG00000056092

Paralogs (35): NRXN3 (ENSG00000021645), TLL1 (ENSG00000038295), CP (ENSG00000047457), DCBLD2 (ENSG00000057019), HEPH (ENSG00000089472), TLL2 (ENSG00000095587), NRP1 (ENSG00000099250), PCOLCE (ENSG00000106333), CNTNAP3 (ENSG00000106714), CUBN (ENSG00000107611), CNTNAP1 (ENSG00000108797), NRXN2 (ENSG00000110076), MEP1A (ENSG00000112818), NRP2 (ENSG00000118257), CUZD1 (ENSG00000138161), MFGE8 (ENSG00000140545), MEP1B (ENSG00000141434), PDGFC (ENSG00000145431), CNTNAP4 (ENSG00000152910), CNTNAP3B (ENSG00000154529), CNTNAP5 (ENSG00000155052), CDCP2 (ENSG00000157211), PCOLCE2 (ENSG00000163710), EDIL3 (ENSG00000164176), NETO1 (ENSG00000166342), BMP1 (ENSG00000168487), PDGFD (ENSG00000170962), NETO2 (ENSG00000171208), CNTNAP2 (ENSG00000174469), NRXN1 (ENSG00000179915), F8 (ENSG00000185010), ASTL (ENSG00000188886), F5 (ENSG00000198734), MFRP (ENSG00000235718), CNTNAP3C (ENSG00000283378)

Protein

Protein identifiers

Ferroxidase HEPHL1 — Q6MZM0 (reviewed: Q6MZM0)

Alternative names: Hephaestin-like protein 1

All UniProt accessions (1): Q6MZM0

UniProt curated annotations — full annotation on UniProt →

Function. Is a copper-binding glycoprotein with ferroxidase activity. It oxidizes Fe(2+) to Fe(3+) without releasing radical oxygen species. May be involved in the regulation of intracellular iron content.

Subcellular location. Membrane.

Disease relevance. Abnormal hair, joint laxity, and developmental delay (HJDD) [MIM:261990] An autosomal recessive disease characterized by abnormal hair, cognitive delay, speech articulation disorder, and increased joint mobility. At birth patients have normal hair that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa. The disease may be caused by variants affecting the gene represented in this entry.

Cofactor. Binds 6 Cu cations per monomer.

Similarity. Belongs to the multicopper oxidase family.

RefSeq proteins (1): NP_001092142* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002355	Cu_oxidase_Cu_BS	Binding_site
IPR008972	Cupredoxin	Homologous_superfamily
IPR011706	Cu-oxidase_C	Domain
IPR011707	Cu-oxidase-like_N	Domain
IPR033138	Cu_oxidase_CS	Conserved_site
IPR045087	Cu-oxidase_fam	Family

Pfam: PF07731, PF07732

Catalyzed reactions (Rhea), 1 shown:

• 4 Fe(2+) + O2 + 4 H(+) = 4 Fe(3+) + 2 H2O (RHEA:11148)

UniProt features (48 total): binding site 19, domain 6, glycosylation site 6, disulfide bond 5, sequence variant 5, topological domain 2, sequence conflict 2, signal peptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6MZM0-F1	89.76	0.80

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 (19): 127 (type 2 copper site); 129 (type 3 copper site); 187 (type 3 copper site); 189 (type 3 copper site); 304 (type 1 copper site); 347 (type 1 copper site); 352 (type 1 copper site); 657 (type 1 copper site); 700 (type 1 copper site); 705 (type 1 copper site); 710 (type 1 copper site); 1003 (type 1 copper site) …

Disulfide bonds (5): 181–207, 285–366, 535–561, 638–719, 881–907

Glycosylation sites (6): 161, 236, 407, 589, 772, 935

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 147 (showing top): GOBP_TRANSITION_METAL_ION_TRANSPORT, GOBP_INTRACELLULAR_IRON_ION_HOMEOSTASIS, GOBP_COPPER_ION_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_MONOATOMIC_ION_HOMEOSTASIS, GOBP_HOMEOSTATIC_PROCESS, GOBP_CHEMICAL_HOMEOSTASIS, chr11q21, GOMF_COPPER_ION_BINDING, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_METAL_IONS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_METAL_IONS_OXYGEN_AS_ACCEPTOR, ZNF843_TARGET_GENES, MIR548E_5P, MIR1297, MIR15A_5P

GO Biological Process (3): copper ion transport (GO:0006825), intracellular iron ion homeostasis (GO:0006879), monoatomic ion transport (GO:0006811)

GO Molecular Function (4): ferroxidase activity (GO:0004322), copper ion binding (GO:0005507), oxidoreductase activity (GO:0016491), metal ion binding (GO:0046872)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transition metal ion transport	1
intracellular monoatomic cation homeostasis	1
inorganic ion homeostasis	1
transport	1
oxidoreductase activity, acting on metal ions, oxygen as acceptor	1
transition metal ion binding	1
catalytic activity	1
cation binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1470 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HEPHL1	K7ERJ3	K7ERJ3	478
HEPHL1	VSTM5	A8MXK1	450
HEPHL1	OR56B1	Q8NGI3	447
HEPHL1	TMEM233	B4DJY2	441
HEPHL1	BKGD	Q9H0W9	437
HEPHL1	OR5J2	Q8NH18	431
HEPHL1	FHAD1	B1AJZ9	423
HEPHL1	OR1N2	Q8NGR9	417
HEPHL1	ROR2	Q01974	413
HEPHL1	SMCO4	Q9NRQ5	400
HEPHL1	KRT27	Q7Z3Y8	400
HEPHL1	SPATA46	Q5T0L3	393
HEPHL1	LRRC38	Q5VT99	362
HEPHL1	GPR83	Q9NYM4	358
HEPHL1	PRSS54	Q6PEW0	352

IntAct

95 interactions, top by confidence:

A	B	Type	Score
OAZ3	AZIN1	psi-mi:“MI:0914”(association)	0.800
KIF3A	KIF3C	psi-mi:“MI:0914”(association)	0.730
ANXA9	PPL	psi-mi:“MI:0914”(association)	0.660
RAB11B	SH3BP5	psi-mi:“MI:0914”(association)	0.640
CAPZA2	CNOT1	psi-mi:“MI:0914”(association)	0.640
PMM1	PMM2	psi-mi:“MI:0914”(association)	0.530
RPN2	SMPD2	psi-mi:“MI:0914”(association)	0.530
CPLX3	CIAO1	psi-mi:“MI:0914”(association)	0.530
LACC1	DUSP14	psi-mi:“MI:0914”(association)	0.530
NSMAF	DUSP14	psi-mi:“MI:0914”(association)	0.530
MRPL38	DUSP14	psi-mi:“MI:0914”(association)	0.530
OR51E2	DUSP14	psi-mi:“MI:0914”(association)	0.530
FBXL4	DUSP14	psi-mi:“MI:0914”(association)	0.530
SEMG2	VSIG8	psi-mi:“MI:0914”(association)	0.530
DOLPP1	VSIG8	psi-mi:“MI:0914”(association)	0.530
APIP	VSIG8	psi-mi:“MI:0914”(association)	0.530
TFG	CRYAB	psi-mi:“MI:0914”(association)	0.530
SIDT2	AP3D1	psi-mi:“MI:0914”(association)	0.530

BioGRID (108): HEPHL1 (Affinity Capture-MS), HEPHL1 (Affinity Capture-MS), HEPHL1 (Affinity Capture-MS), HEPHL1 (Affinity Capture-MS), HEPHL1 (Affinity Capture-MS), HEPHL1 (Affinity Capture-MS), HEPHL1 (Affinity Capture-MS), HEPHL1 (Affinity Capture-MS), HEPHL1 (Affinity Capture-MS), HEPHL1 (Affinity Capture-MS), HEPHL1 (Affinity Capture-MS), HEPHL1 (Affinity Capture-MS), HEPHL1 (Affinity Capture-MS), HEPHL1 (Affinity Capture-MS), HEPHL1 (Affinity Capture-MS)

ESM2 similar proteins: A2Y9C2, A2Y9C5, A2ZNT5, B3EWZ9, P00450, P13635, P29162, P33434, P33436, P56193, P83388, Q00624, Q02075, Q02079, Q06K61, Q08CS6, Q0IQU1, Q0JHP8, Q2QZ80, Q2R0L0, Q2R0L2, Q2VQV9, Q3V1H3, Q4PIF8, Q4WQY8, Q58L90, Q58L91, Q593B6, Q61147, Q6MZM0, Q7SZN0, Q84J37, Q8VXX5, Q8VZA1, Q90611, Q920H8, Q966W3, Q96WT3, Q9AWU4, Q9BQS7

Diamond homologs: B3EWZ9, O18806, O88783, P00450, P00451, P12259, P12263, P13635, Q06194, Q28107, Q3V1H3, Q55P57, Q58L90, Q58L91, Q593B6, Q61147, Q6MZM0, Q7SZN0, Q920H8, Q9BQS7, Q9GLP1, Q9XT27, Q9Z0Z4, A0A067XMP0, A0A067XMP2, A0A0B4F1I0, A0A0B4F5S2, A0A0B4GLB5, A0A0B4HQH6, A0A2G5I8N8, A0A5B8YWJ2, C3SAH7, D4APX3, E9E686, E9F648, I1RF62, J5JH35, O59896, P06811, P78722

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 104 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
Membrane Trafficking	10	5.7×	2e-03
Vesicle-mediated transport	10	5.4×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	4
Uncertain significance	186
Likely benign	21
Benign	10

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
1678388	NM_001098672.2(HEPHL1):c.364C>T (p.Arg122Ter)	Likely pathogenic
1705100	NC_000011.9:g.(93754705_93778838)_(93779084_93796673)del	Likely pathogenic
2584877	NM_001098672.2(HEPHL1):c.641_644dup (p.Tyr215Ter)	Likely pathogenic
992359	NM_001098672.2(HEPHL1):c.2857C>T (p.Arg953Ter)	Likely pathogenic

SpliceAI

2971 predictions. Top by Δscore:

Variant	Effect	Δscore
11:94021500:G:T	donor_gain	1.0000
11:94021534:GACAA:G	donor_gain	1.0000
11:94021539:G:GG	donor_gain	1.0000
11:94063490:A:AG	acceptor_gain	1.0000
11:94063491:A:G	acceptor_gain	1.0000
11:94063492:T:G	acceptor_gain	1.0000
11:94063496:A:AG	acceptor_gain	1.0000
11:94063497:T:G	acceptor_gain	1.0000
11:94063502:T:A	acceptor_gain	1.0000
11:94063503:G:A	acceptor_gain	1.0000
11:94063506:A:G	acceptor_loss	1.0000
11:94063507:G:A	acceptor_gain	1.0000
11:94063507:GGA:G	acceptor_gain	1.0000
11:94063716:GGAAG:G	donor_gain	1.0000
11:94063717:G:GT	donor_gain	1.0000
11:94063717:GAAG:G	donor_gain	1.0000
11:94063718:A:T	donor_gain	1.0000
11:94063718:AAG:A	donor_loss	1.0000
11:94063720:GG:G	donor_loss	1.0000
11:94063721:G:GG	donor_gain	1.0000
11:94063722:T:G	donor_loss	1.0000
11:94064315:T:TA	acceptor_gain	1.0000
11:94064319:T:G	acceptor_gain	1.0000
11:94064321:T:TA	acceptor_gain	1.0000
11:94064506:GCATG:G	donor_gain	1.0000
11:94064507:CATG:C	donor_gain	1.0000
11:94064508:ATG:A	donor_gain	1.0000
11:94064508:ATGGT:A	donor_loss	1.0000
11:94064509:TG:T	donor_gain	1.0000
11:94064509:TGGT:T	donor_loss	1.0000

AlphaMissense

7715 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:94045881:C:G	H127D	0.999
11:94111002:T:C	C1049R	0.999
11:94111004:T:G	C1049W	0.999
11:94045856:C:A	N118K	0.998
11:94045856:C:G	N118K	0.998
11:94045906:A:T	K135I	0.998
11:94045917:G:A	G139R	0.998
11:94045917:G:C	G139R	0.998
11:94063651:C:G	H187D	0.998
11:94063655:C:G	S188W	0.998
11:94063675:G:C	D195H	0.998
11:94063696:G:T	G202W	0.998
11:94067726:T:C	C347R	0.998
11:94067728:C:G	C347W	0.998
11:94110990:T:A	W1045R	0.998
11:94110990:T:C	W1045R	0.998
11:94111003:G:A	C1049Y	0.998
11:94045907:A:C	K135N	0.997
11:94045907:A:T	K135N	0.997
11:94045915:A:T	E138V	0.997
11:94045916:A:C	E138D	0.997
11:94045916:A:T	E138D	0.997
11:94063588:T:A	W166R	0.997
11:94063588:T:C	W166R	0.997
11:94063648:T:G	Y186D	0.997
11:94063654:T:C	S188P	0.997
11:94063691:T:C	L200P	0.997
11:94063696:G:A	G202R	0.997
11:94063696:G:C	G202R	0.997
11:94063697:G:A	G202E	0.997

dbSNP variants (sampled 300 via entrez): RS1000055720 (11:94047323 C>T), RS1000096570 (11:94066043 A>C), RS1000133748 (11:94105005 A>T), RS1000196413 (11:94052997 G>A), RS1000213034 (11:94090516 G>A), RS1000222990 (11:94078971 T>G), RS1000253719 (11:94065684 T>C), RS1000306140 (11:94065999 C>A,T), RS1000333506 (11:94108071 AT>A,ATT), RS1000342946 (11:94108216 A>C,G), RS1000374853 (11:94022785 G>A,T), RS1000407239 (11:94047076 G>A,T), RS1000417850 (11:94052721 A>G), RS1000427074 (11:94023241 C>T), RS1000467619 (11:94051873 C>A)

Disease associations

OMIM: gene MIM:618455 | disease phenotypes: MIM:261990

GenCC curated gene-disease

Disease	Classification	Inheritance
pili torti-developmental delay-neurological abnormalities syndrome	Limited	Unknown

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
pili torti-developmental delay-neurological abnormalities syndrome	Limited	AR

Mondo (2): pili torti-developmental delay-neurological abnormalities syndrome (MONDO:0009871), lichen planopilaris (MONDO:0018879)

Orphanet (2): Pili torti-developmental delay-neurological abnormalities syndrome (Orphanet:2891), Lichen planopilaris (Orphanet:525)

HPO phenotypes

32 total (30 of 32 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000403	Recurrent otitis media
HP:0000691	Microdontia
HP:0000718	Aggressive behavior
HP:0001260	Dysarthria
HP:0001263	Global developmental delay
HP:0001357	Plagiocephaly
HP:0001382	Joint hypermobility
HP:0001596	Alopecia
HP:0001653	Mitral regurgitation
HP:0001688	Sinus bradycardia
HP:0001792	Small nail
HP:0001808	Fragile nails
HP:0001864	Clinodactyly of the 5th toe
HP:0001954	Recurrent fever
HP:0002376	Developmental regression
HP:0002465	Poor speech
HP:0003102	Increased carrying angle
HP:0003777	Pili torti
HP:0004428	Elfin facies
HP:0004689	Short fourth metatarsal
HP:0004691	2-3 toe syndactyly
HP:0004704	Short fifth metatarsal
HP:0005180	Tricuspid regurgitation
HP:0005338	Sparse lateral eyebrow
HP:0009886	Trichorrhexis nodosa
HP:0011918	Clinodactyly of the 4th toe
HP:0012378	Fatigue
HP:0012514	Lower limb pain
HP:0025267	Snoring

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001762_775	Obesity-related traits	4.000000e-06

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
C535892	Lichen planus follicularis (supp.)
C537398	Pili torti developmental delay neurological abnormalities (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
ammonium ferric sulfate	increases oxidation	1
cyanoginosin LR	decreases expression	1
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Copper	affects binding, decreases expression	1
Lipopolysaccharides	increases expression, affects response to substance	1
Phenylenediamines	increases oxidation	1
Cadmium Chloride	increases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03417141	PHASE2	COMPLETED	Valchlor in the Treatment of Lichen Planopilaris
NCT04409041	PHASE2	COMPLETED	Oral Low-Dose Naltrexone for Lichen Planopilaris and Frontal Fibrosing Alopecia
NCT06091956	PHASE2	COMPLETED	A Study of Deucravacitinib to Treat LPP and FFA
NCT07487948	PHASE2	RECRUITING	Safety and Biomarker Responses of Delgocitinib (JAK1,2,3/TYK2 Inhibitor) in Central Centrifugal Cicatricial Alopecia and Lichen Planopilaris
NCT07532603	PHASE2/PHASE3	RECRUITING	A Phase 2/3 Study of Brepocitinib in Adults With Lichen Planopilaris
NCT03346668	EARLY_PHASE1	COMPLETED	Role of Neurogenic Inflammation and Topical 6% Gabapentin Therapy in Symptomatic Scarring Alopecia
NCT05030415	EARLY_PHASE1	COMPLETED	Ixekizumab in Adult Patients With Lichen Planus and Lichen Planopilaris
NCT00691769	Not specified	COMPLETED	Expression of Fas Protein in Skin Biopsies of Participants With Scarring Alopecia
NCT03082560	Not specified	UNKNOWN	Design and Validation of a New Assessment Tool for Lichen Planopilaris
NCT06512753	Not specified	RECRUITING	The Effectiveness of Hydroxychloroquine Versus Methotrexate in the Treatment of Lichen Planopilaris in Routine Clinical Care: a Patient Preference Trial
NCT06512766	Not specified	COMPLETED	a Retrospective Study on the Systemic Treatment of LPP and FFA