KRT25

Summary

KRT25 (keratin 25, HGNC:30839) is a protein-coding gene on chromosome 17q21.2, encoding Keratin, type I cytoskeletal 25 (Q7Z3Z0). Essential for the proper assembly of type I and type II keratin protein complexes and formation of keratin intermediate filaments in the inner root sheath (irs).

This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21.

Source: NCBI Gene 147183 — RefSeq curated summary.

At a glance

• Gene–disease (curated): wooly hair, autosomal recessive 3 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 5
• Clinical variants (ClinVar): 118 total — 3 pathogenic
• Phenotypes (HPO): 18
• MANE Select transcript: NM_181534

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30839
Approved symbol	KRT25
Name	keratin 25
Location	17q21.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000204897
Ensembl biotype	protein_coding
OMIM	616646
Entrez	147183

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000312150

RefSeq mRNA: 1 — MANE Select: NM_181534 NM_181534

CCDS: CCDS11373

Canonical transcript exons

ENST00000312150 — 8 exons

Exon	Start	End
ENSE00001332146	40749258	40749325
ENSE00001332155	40754386	40754468
ENSE00001517352	40754843	40755331
ENSE00001926936	40748021	40748386
ENSE00002362223	40751165	40751326
ENSE00002380512	40750380	40750597
ENSE00002385823	40750954	40751079
ENSE00002428523	40753860	40754016

Expression profiles

Bgee: expression breadth broad, 70 present calls, max score 99.13.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0896 / max 129.4016, expressed in 5 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165806	0.0896	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
upper arm skin	UBERON:0004263	99.13	gold quality
skin of hip	UBERON:0001554	90.84	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.90	gold quality
kidney epithelium	UBERON:0004819	78.56	gold quality
sperm	CL:0000019	77.98	silver quality
nipple	UBERON:0002030	73.88	gold quality
left ventricle myocardium	UBERON:0006566	73.80	gold quality
cardiac muscle of right atrium	UBERON:0003379	73.64	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	69.79	gold quality
tibialis anterior	UBERON:0001385	67.43	silver quality
myocardium	UBERON:0002349	66.25	gold quality
epithelial cell of pancreas	CL:0000083	65.50	gold quality
upper leg skin	UBERON:0004262	65.26	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	65.16	gold quality
ileal mucosa	UBERON:0000331	62.82	silver quality
pancreatic ductal cell	CL:0002079	62.29	silver quality
deltoid	UBERON:0001476	61.76	silver quality
superficial temporal artery	UBERON:0001614	61.09	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	60.79	gold quality
secondary oocyte	CL:0000655	60.22	gold quality
quadriceps femoris	UBERON:0001377	60.09	gold quality
cerebellar vermis	UBERON:0004720	60.00	gold quality
gingival epithelium	UBERON:0001949	59.59	gold quality
lower lobe of lung	UBERON:0008949	59.38	silver quality
vastus lateralis	UBERON:0001379	58.17	gold quality
gingiva	UBERON:0001828	58.05	gold quality
nasal cavity epithelium	UBERON:0005384	57.52	gold quality
amniotic fluid	UBERON:0000173	56.89	gold quality
pons	UBERON:0000988	55.62	gold quality
epithelium of nasopharynx	UBERON:0001951	54.70	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.95

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

22 targeting KRT25, 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-186-5P	99.99	70.83	3707
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-4777-5P	99.33	67.53	1148
HSA-MIR-194-5P	99.01	69.65	1465
HSA-MIR-4744	99.01	69.91	1581
HSA-MIR-4782-5P	98.35	69.33	1474
HSA-MIR-5706	98.35	69.33	1463
HSA-MIR-4638-3P	97.90	65.75	905
HSA-MIR-1279	97.83	67.50	1898
HSA-MIR-937-5P	97.43	68.39	667
HSA-MIR-616-3P	96.82	66.99	784
HSA-MIR-5702	96.68	68.21	958
HSA-MIR-6085	96.57	64.11	621
HSA-MIR-644A	96.02	66.52	786

Literature-anchored findings (GeneRIF, showing 3)

• KRT25 is involved in human hair abnormality, and is consistent with the curled, fragile hair found in mice with Krt25 mutations. (PMID:26160856)
• Study reports a Chinese autosomal dominant woolly hair/hypotrichosis pedigree that results from a heterozygous nonsynonymous variant in KRT25 and conclude that mutation in KRT25 affects the stability of the cytoskeleton and hypothesize that this is how it affects hair in woolly hair syndromes. (PMID:28899683)
• A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies. (PMID:35926655)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Krt25	ENSMUSG00000035831
rattus_norvegicus	Krt25	ENSRNOG00000011196

Paralogs (68): KRT33A (ENSG00000006059), VIM (ENSG00000026025), KRT31 (ENSG00000094796), NEFM (ENSG00000104722), KRT23 (ENSG00000108244), KRT37 (ENSG00000108417), KRT32 (ENSG00000108759), KRT18 (ENSG00000111057), LMNB1 (ENSG00000113368), KRT36 (ENSG00000126337), KRT17 (ENSG00000128422), GFAP (ENSG00000131095), KRT34 (ENSG00000131737), KRT33B (ENSG00000131738), NES (ENSG00000132688), PRPH (ENSG00000135406), KRT85 (ENSG00000135443), KRT7 (ENSG00000135480), KRT71 (ENSG00000139648), INA (ENSG00000148798), LMNTD1 (ENSG00000152936), LMNA (ENSG00000160789), KRT84 (ENSG00000161849), KRT82 (ENSG00000161850), KRT80 (ENSG00000167767), KRT1 (ENSG00000167768), KRT24 (ENSG00000167916), KRT8 (ENSG00000170421), KRT78 (ENSG00000170423), KRT86 (ENSG00000170442), KRT75 (ENSG00000170454), KRT6C (ENSG00000170465), KRT4 (ENSG00000170477), KRT74 (ENSG00000170484), KRT72 (ENSG00000170486), KRT83 (ENSG00000170523), BFSP2 (ENSG00000170819), KRT19 (ENSG00000171345), KRT15 (ENSG00000171346), KRT38 (ENSG00000171360)

Protein

Protein identifiers

Keratin, type I cytoskeletal 25 — Q7Z3Z0 (reviewed: Q7Z3Z0)

Alternative names: Cytokeratin-25, Keratin-25, Keratin-25A, Type I inner root sheath-specific keratin-K25irs1

All UniProt accessions (1): Q7Z3Z0

UniProt curated annotations — full annotation on UniProt →

Function. Essential for the proper assembly of type I and type II keratin protein complexes and formation of keratin intermediate filaments in the inner root sheath (irs). Plays a role in the cytoskeleton organization.

Subunit / interactions. Heterodimer of a type I and a type II keratin. Heterodimer with type II keratin KRT5 leading to the formation of keratin intermediate filament (KIF) network. Interacts with KRT6A to form filaments.

Subcellular location. Cytoplasm.

Tissue specificity. Strongly expressed in skin and scalp, and weak expression observed in thymus and tongue. In the hair follicle, expressed in Henle layer, Huxley layer and in the inner root sheath cuticle of the hair follicle. Expression extends from the bulb region up to the point of differentiation into the three layers. Also present in the medulla of beard hair (at protein level).

Disease relevance. Woolly hair autosomal recessive 3 (ARWH3) [MIM:616760] A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals may present with hypotrichosis. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).

Similarity. Belongs to the intermediate filament family.

RefSeq proteins (1): NP_853512* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002957	Keratin_I	Family
IPR039008	IF_rod_dom	Domain

Pfam: PF00038

UniProt features (16 total): region of interest 8, sequence variant 4, chain 1, domain 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z3Z0-F1	75.88	0.54

Functional residue map

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

Post-translational modifications (1): 442

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6805567	Keratinization
R-HSA-6809371	Formation of the cornified envelope
R-HSA-1266738	Developmental Biology

MSigDB gene sets: 115 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_EPIDERMIS_MORPHOGENESIS, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, GCANCTGNY_MYOD_Q6, HNF1_Q6, CHX10_01, GGGTGGRR_PAX4_03, CEBPB_01, AP1_Q4_01, RGTTAMWNATT_HNF1_01, MARTINEZ_RB1_TARGETS_DN, WTGAAAT_UNKNOWN, TGANTCA_AP1_C

GO Biological Process (6): morphogenesis of an epithelium (GO:0002009), cytoskeleton organization (GO:0007010), epithelial cell differentiation (GO:0030855), hair follicle morphogenesis (GO:0031069), hair cycle (GO:0042633), intermediate filament organization (GO:0045109)

GO Molecular Function (4): structural constituent of skin epidermis (GO:0030280), protein heterodimerization activity (GO:0046982), structural molecule activity (GO:0005198), protein binding (GO:0005515)

GO Cellular Component (6): cytosol (GO:0005829), cytoskeleton (GO:0005856), keratin filament (GO:0045095), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), intermediate filament (GO:0005882)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Developmental Biology	1
Keratinization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
epithelium development	2
cellular anatomical structure	2
tissue morphogenesis	1
organelle organization	1
cell differentiation	1
hair follicle development	1
anatomical structure morphogenesis	1
hair cycle process	1
epidermis morphogenesis	1
molting cycle	1
intermediate filament cytoskeleton organization	1
supramolecular fiber organization	1
structural molecule activity	1
protein dimerization activity	1
molecular_function	1
binding	1
cytoplasm	1
intracellular membraneless organelle	1
intermediate filament	1
extracellular vesicle	1
intracellular anatomical structure	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

876 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRT25	KRTAP3-2	Q9BYR7	475
KRT25	KRT83	P78385	460
KRT25	HOXC13	P31276	433
KRT25	FGF5	P12034	424
KRT25	KRTAP4-16	G5E9R7	417
KRT25	KRTAP3-3	Q9BYR6	382
KRT25	LIPH	Q8WWY8	379
KRT25	TMEM79	Q9BSE2	362
KRT25	LPAR6	P43657	345
KRT25	TCHH	Q07283	343
KRT25	DNASE1L2	Q92874	328
KRT25	TCHHL1	Q5QJ38	313
KRT25	KRTAP1-1	Q07627	311
KRT25	KRTAP21-1	Q3LI58	311
KRT25	S100A3	P33764	309

IntAct

75 interactions, top by confidence:

A	B	Type	Score
KRT6A	KRT25	psi-mi:“MI:0915”(physical association)	0.560
HGS	KRT25	psi-mi:“MI:0915”(physical association)	0.560
KRT85	KRT25	psi-mi:“MI:0915”(physical association)	0.560
KRT5	KRT25	psi-mi:“MI:0915”(physical association)	0.560
KRT25	KRT78	psi-mi:“MI:0915”(physical association)	0.560
KRT4	KRT25	psi-mi:“MI:0915”(physical association)	0.560
KRT75	KRT25	psi-mi:“MI:0915”(physical association)	0.560
KRT2	KRT25	psi-mi:“MI:0915”(physical association)	0.560
KRT79	KRT25	psi-mi:“MI:0915”(physical association)	0.560
KRT74	KRT25	psi-mi:“MI:0915”(physical association)	0.560
KRT86	KRT25	psi-mi:“MI:0915”(physical association)	0.560
PPL	KRT25	psi-mi:“MI:0915”(physical association)	0.560
KRT76	KRT25	psi-mi:“MI:0915”(physical association)	0.560
KRT83	KRT25	psi-mi:“MI:0915”(physical association)	0.560
KRT6C	KRT25	psi-mi:“MI:0915”(physical association)	0.560
KRT25	MORN4	psi-mi:“MI:0915”(physical association)	0.560
KRT72	KRT25	psi-mi:“MI:0915”(physical association)	0.560
KRT3	KRT25	psi-mi:“MI:0915”(physical association)	0.560
KRT71	KRT25	psi-mi:“MI:0915”(physical association)	0.560
KRT1	KRT25	psi-mi:“MI:0915”(physical association)	0.560
KRT8	KRT25	psi-mi:“MI:0915”(physical association)	0.560
KRT6B	KRT25	psi-mi:“MI:0915”(physical association)	0.560
KRT6A	KRT25	psi-mi:“MI:0915”(physical association)	0.000
HGS	KRT25	psi-mi:“MI:0915”(physical association)	0.000
KRT85	KRT25	psi-mi:“MI:0915”(physical association)	0.000
KRT5	KRT25	psi-mi:“MI:0915”(physical association)	0.000
KRT78	KRT25	psi-mi:“MI:0915”(physical association)	0.000
KRT4	KRT25	psi-mi:“MI:0915”(physical association)	0.000
KRT75	KRT25	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (35): KRT25 (Affinity Capture-MS), KRT25 (Affinity Capture-MS), KRT25 (Affinity Capture-MS), KRT25 (Affinity Capture-MS), KRT25 (Two-hybrid), KRT25 (Two-hybrid), KRT25 (Two-hybrid), KRT25 (Two-hybrid), KRT25 (Two-hybrid), KRT25 (Two-hybrid), KRT25 (Two-hybrid), KRT25 (Two-hybrid), KRT25 (Two-hybrid), KRT25 (Two-hybrid), KRT25 (Two-hybrid)

ESM2 similar proteins: A1L317, A1L595, A5A6N2, A6BLY7, B1AQ75, E1AB55, O76013, P02533, P08730, P08779, P13646, P19012, Q0P5J4, Q0P5J6, Q0P5J7, Q148H5, Q148H6, Q148H8, Q2M2I5, Q3UV17, Q497I4, Q61414, Q61781, Q64291, Q6IFU7, Q6IFU8, Q6IFV1, Q6IFV3, Q6IFV4, Q6IFW6, Q6IFW8, Q6IFX0, Q6IFX1, Q6IFX2, Q6NXH9, Q6R649, Q6R650, Q7Z3Y7, Q7Z3Y8, Q7Z3Y9

Diamond homologs: A1KQY9, A1L317, A1L595, A5A6M0, A5A6M5, A5A6N2, A5A6P3, A6BLY7, A6QQQ9, A7YWM2, B0LKP1, B1AQ75, O57607, O57611, O76009, O76013, O77727, O93256, P02533, P02534, P02535, P02537, P05781, P05783, P05784, P06394, P08727, P08728, P08730, P08777, P08778, P08779, P08802, P13645, P13646, P19001, P19012, P25030, P25690, P35527

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 22 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
Formation of the cornified envelope	20	83.7×	2e-37
Keratinization	19	50.4×	9e-31

GO biological processes:

GO term	Partners	Fold	FDR
keratinization	19	202.1×	7e-42
intermediate filament organization	18	197.0×	3e-39

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	74
Likely benign	21
Benign	17

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
217303	NM_181534.4(KRT25):c.950T>C (p.Leu317Pro)	Pathogenic
242934	NM_181534.4(KRT25):c.712G>T (p.Val238Leu)	Pathogenic
4526416	KRT25, ARG89HIS	Pathogenic

SpliceAI

753 predictions. Top by Δscore:

Variant	Effect	Δscore
17:40750378:A:AC	donor_gain	1.0000
17:40750379:C:CC	donor_gain	1.0000
17:40750593:TGTTT:T	acceptor_gain	1.0000
17:40750594:GTTT:G	acceptor_gain	1.0000
17:40750595:TTT:T	acceptor_gain	1.0000
17:40750596:TT:T	acceptor_gain	1.0000
17:40750597:TC:T	acceptor_loss	1.0000
17:40750598:C:CA	acceptor_loss	1.0000
17:40750598:C:CC	acceptor_gain	1.0000
17:40750602:C:CT	acceptor_gain	1.0000
17:40750603:A:T	acceptor_gain	1.0000
17:40750950:ATAC:A	donor_loss	1.0000
17:40750951:TAC:T	donor_loss	1.0000
17:40750952:A:AC	donor_gain	1.0000
17:40750952:A:AG	donor_loss	1.0000
17:40750953:C:CC	donor_gain	1.0000
17:40751075:GCGCT:G	acceptor_gain	1.0000
17:40751076:CGCT:C	acceptor_gain	1.0000
17:40751076:CGCTC:C	acceptor_gain	1.0000
17:40751077:GCT:G	acceptor_gain	1.0000
17:40751078:CT:C	acceptor_gain	1.0000
17:40751078:CTC:C	acceptor_gain	1.0000
17:40751079:TCT:T	acceptor_gain	1.0000
17:40751079:TCTGA:T	acceptor_loss	1.0000
17:40751080:C:CC	acceptor_gain	1.0000
17:40751080:C:G	acceptor_gain	1.0000
17:40751080:CTG:C	acceptor_loss	1.0000
17:40751085:A:AC	acceptor_gain	1.0000
17:40751089:C:CT	acceptor_gain	1.0000
17:40751090:A:C	acceptor_gain	1.0000

AlphaMissense

2940 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:40754405:C:G	A165P	0.993
17:40754417:C:G	A161P	0.993
17:40750973:A:G	L313P	0.992
17:40754853:A:G	L140P	0.992
17:40751174:G:C	F274L	0.990
17:40751174:G:T	F274L	0.990
17:40751176:A:G	F274L	0.990
17:40755006:C:G	R89P	0.990
17:40751188:C:G	A270P	0.989
17:40751196:C:G	R267P	0.989
17:40750500:A:G	L352P	0.987
17:40754410:A:G	L163P	0.987
17:40750449:A:G	L369P	0.986
17:40751229:C:G	R256P	0.986
17:40750959:C:G	A318P	0.985
17:40751241:A:G	L252P	0.984
17:40750542:A:G	L338P	0.983
17:40754444:C:G	A152P	0.983
17:40750587:A:G	L323P	0.982
17:40751209:C:G	A263P	0.982
17:40750428:A:G	L376P	0.981
17:40750436:C:A	K373N	0.981
17:40750436:C:G	K373N	0.981
17:40750968:A:G	S315P	0.981
17:40754016:C:A	K171N	0.981
17:40754016:C:G	K171N	0.981
17:40751000:C:G	R304P	0.980
17:40754965:C:G	A103P	0.978
17:40755015:A:G	L86P	0.978
17:40750591:A:G	S322P	0.977

dbSNP variants (sampled 300 via entrez): RS1000074446 (17:40751259 A>C), RS1000340984 (17:40756798 T>G), RS1001169224 (17:40753663 G>A,C,T), RS1001236761 (17:40752132 G>A), RS1001641428 (17:40753340 T>C), RS1001910692 (17:40753937 G>A), RS1002256736 (17:40754127 A>G), RS1002966453 (17:40748863 A>G), RS1003189425 (17:40756457 T>A,C), RS1003263892 (17:40755055 C>A), RS1003297115 (17:40750295 A>T), RS1003372143 (17:40749977 C>G), RS1003524474 (17:40755499 G>A), RS1003857956 (17:40753561 G>A,C), RS1004435686 (17:40747819 T>A,C)

Disease associations

OMIM: gene MIM:616646 | disease phenotypes: MIM:278150, MIM:616760

GenCC curated gene-disease

Disease	Classification	Inheritance
wooly hair, autosomal recessive 3	Strong	Autosomal recessive
isolated familial wooly hair disorder	Supportive	Autosomal dominant

Mondo (3): hypotrichosis 8 (MONDO:0010206), wooly hair, autosomal recessive 3 (MONDO:0014765), isolated familial wooly hair disorder (MONDO:0008686)

Orphanet (2): Woolly hair (Orphanet:170), Hypotrichosis simplex (Orphanet:55654)

HPO phenotypes

18 total (18 of 18 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000479	Abnormal retinal morphology
HP:0000486	Strabismus
HP:0000518	Cataract
HP:0000615	Abnormal pupil morphology
HP:0000653	Sparse eyelashes
HP:0002209	Sparse scalp hair
HP:0002212	Curly hair
HP:0002213	Fine hair
HP:0002217	Slow-growing hair
HP:0002224	Woolly hair
HP:0002231	Sparse body hair
HP:0002299	Brittle hair
HP:0005338	Sparse lateral eyebrow
HP:0005599	Hypopigmentation of hair
HP:0008070	Sparse hair
HP:0009886	Trichorrhexis nodosa
HP:0010719	Abnormality of hair texture

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST003075_26	Cognitive decline rate in late mild cognitive impairment	2.000000e-07
GCST003075_59	Cognitive decline rate in late mild cognitive impairment	2.000000e-07
GCST007798_120	Asthma	5.000000e-17
GCST009798_41	Asthma	3.000000e-08
GCST009798_47	Asthma	3.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007710	cognitive decline measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
C566950	Hypotrichosis, Localized, Autosomal Recessive, 3 (supp.)
C536745	Woolly hair, congenital (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	increases methylation	1
Methotrexate	increases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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