C1D

Summary

C1D (C1D nuclear receptor corepressor, HGNC:29911) is a protein-coding gene on chromosome 2p14, encoding Nuclear nucleic acid-binding protein C1D (Q13901). Plays a role in the recruitment of the RNA exosome complex to pre-rRNA to mediate the 3’-5’ end processing of the 5.8S rRNA; this function may include MPHOSPH6. It is a selective cancer dependency (DepMap: 41.9% of cell lines).

The protein encoded by this gene is a DNA binding and apoptosis-inducing protein and is localized in the nucleus. It is also a Rac3-interacting protein which acts as a corepressor for the thyroid hormone receptor. This protein is thought to regulate TRAX/Translin complex formation. Alternate splicing results in multiple transcript variants that encode the same protein. Multiple pseudogenes of this gene are found on chromosome 10.

Source: NCBI Gene 10438 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 24 total
• Phenotypes (HPO): 43
• Cancer dependency (DepMap): dependent in 41.9% of screened cell lines
• MANE Select transcript: NM_173177

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29911
Approved symbol	C1D
Name	C1D nuclear receptor corepressor
Location	2p14
Locus type	gene with protein product
Status	Approved
Aliases	SUNCOR, SUN-CoR, LRP1, Rrp47
Ensembl gene	ENSG00000197223
Ensembl biotype	protein_coding
OMIM	606997
Entrez	10438

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 22 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000355848, ENST00000407324, ENST00000409302, ENST00000410067, ENST00000470189, ENST00000479484, ENST00000485709, ENST00000871237, ENST00000871238, ENST00000871239, ENST00000871240, ENST00000871241, ENST00000871242, ENST00000871243, ENST00000871245, ENST00000871247, ENST00000871248, ENST00000937568, ENST00000937569, ENST00000937570, ENST00000937571, ENST00000941549, ENST00000941550, ENST00000941551, ENST00000941552

RefSeq mRNA: 4 — MANE Select: NM_173177 NM_001190263, NM_001190265, NM_006333, NM_173177

CCDS: CCDS1883

Canonical transcript exons

ENST00000410067 — 5 exons

Exon	Start	End
ENSE00000758730	68046344	68046410
ENSE00001584845	68062958	68063004
ENSE00001941177	68041130	68043053
ENSE00003510538	68045988	68046043
ENSE00003641475	68047173	68047319

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 94.20.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.0742 / max 234.7217, expressed in 1695 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
28838	6.0742	1695

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
islet of Langerhans	UBERON:0000006	94.20	gold quality
monocyte	CL:0000576	93.53	gold quality
leukocyte	CL:0000738	93.23	gold quality
bone marrow	UBERON:0002371	91.85	gold quality
endometrium	UBERON:0001295	91.59	gold quality
gastrocnemius	UBERON:0001388	91.52	gold quality
muscle of leg	UBERON:0001383	91.39	gold quality
skeletal muscle tissue	UBERON:0001134	91.28	gold quality
vagina	UBERON:0000996	91.02	gold quality
adrenal tissue	UBERON:0018303	90.87	gold quality
right adrenal gland cortex	UBERON:0035827	90.56	gold quality
muscle tissue	UBERON:0002385	90.45	gold quality
lymph node	UBERON:0000029	90.30	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.29	gold quality
right uterine tube	UBERON:0001302	90.26	gold quality
bone marrow cell	CL:0002092	90.20	gold quality
descending thoracic aorta	UBERON:0002345	90.20	gold quality
prefrontal cortex	UBERON:0000451	90.14	gold quality
placenta	UBERON:0001987	89.99	gold quality
tibial artery	UBERON:0007610	89.87	gold quality
popliteal artery	UBERON:0002250	89.86	gold quality
vermiform appendix	UBERON:0001154	89.85	gold quality
right adrenal gland	UBERON:0001233	89.79	gold quality
left adrenal gland	UBERON:0001234	89.76	gold quality
adrenal gland	UBERON:0002369	89.68	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	89.65	gold quality
right lobe of liver	UBERON:0001114	89.57	gold quality
thoracic aorta	UBERON:0001515	89.49	gold quality
duodenum	UBERON:0002114	89.44	gold quality
right lung	UBERON:0002167	89.44	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.87

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

44 targeting C1D, 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-340-5P	100.00	72.50	4437
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-3177-5P	99.65	70.38	1174
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-548AV-5P	99.60	70.84	2107
HSA-MIR-548K	99.60	70.84	2107
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-8054	99.48	70.81	2084
HSA-MIR-5590-3P	99.48	70.91	2429
HSA-MIR-142-5P	99.48	70.92	2416
HSA-MIR-12131	99.48	68.72	1673
HSA-MIR-569	99.42	66.32	1009
HSA-MIR-889-3P	99.40	69.76	2103

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 41.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 6)

• TRAX enhances the DNA binding capacity of Translin, that binds to recombination regions in some malignancies. C1D interacts with TRAX following g-irradiation and prevents formation of TRAX/Translin complex, thereby inhibits any unwanted recombination. (PMID:11801738)
• Results are consistent with a role for the exosome-associated protein C1D in the recruitment of the exosome to pre-rRNA to mediate the 3’ end processing of the 5.8S rRNA. (PMID:17412707)
• Anti-C1D autoantibodies were observed in patients with polymyositis-scleroderma overlap syndrome. (PMID:17599775)
• C1D is associated with the DNA repair complex and may promote repair of ultraviolet irradiation-induced DNA damage. (PMID:20530579)
• Data confirm that C1D is not directly involved in repair of UV-damaged DNA; C1D appears to protects cells from oxidative stress (induced by UV irradiation or hydrogen peroxide oxidation) by regulating expression of DNA repair/transcription enzymes such as APEX1 or DDIT3. (C1D = nuclear receptor corepressor C1D; APEX1 = apurinic/apyrimidinic endodeoxyribonuclease-1; DDIT3 = DNA damage inducible transcript-3) (PMID:30165670)
• The C1D protein interacts with the catalytic subunit of DNA-PK and is a very effective substrate for DNA-PK in vitro. Moreover, C1D directs the activation of DNA-PK in a manner that does not require DNA termini, suggesting a role for C1D in DNA repair. (PMID:9679063)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	c1d	ENSDARG00000021112
mus_musculus	C1d	ENSMUSG00000000581
rattus_norvegicus	C1d	ENSRNOG00000005982
caenorhabditis_elegans		WBGENE00021785

Protein

Protein identifiers

Nuclear nucleic acid-binding protein C1D — Q13901 (reviewed: Q13901)

All UniProt accessions (2): Q13901, J3KPZ4

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the recruitment of the RNA exosome complex to pre-rRNA to mediate the 3’-5’ end processing of the 5.8S rRNA; this function may include MPHOSPH6. Can activate PRKDC not only in the presence of linear DNA but also in the presence of supercoiled DNA. Can induce apoptosis in a p53/TP53 dependent manner. May regulate the TRAX/TSN complex formation. Potentiates transcriptional repression by NR1D1 and THRB.

Subunit / interactions. Monomer and homodimer. Interacts with NR1D1, THRA, THRB, NCOR1 and NCOR2. Associates with the RNA exosome complex. Interacts with EXOSC10; the interaction probably mediates the association with the nuclear form of the RNA exosome. The homodimeric form interacts with TSNAX following gamma-radiation. Interacts with RAC3.

Subcellular location. Nucleus. Cytoplasm. Nucleolus.

Tissue specificity. Ubiquitous. Expressed at very high levels in the hippocampus, medulla oblongata, mammary gland, thyroid and salivary gland. Expressed at high levels in the fetal; lung, liver and kidney. Expressed at low levels in skeletal muscle, appendix, heart, lung and colon.

Post-translational modifications. Phosphorylated by PRKDC.

Induction. By gamma-radiation.

Similarity. Belongs to the C1D family.

RefSeq proteins (4): NP_001177192, NP_001177194, NP_006324, NP_775269* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007146	Sas10/Utp3/C1D	Family
IPR011082	Exosome-assoc_fac/DNA_repair	Family

Pfam: PF04000

UniProt features (9 total): region of interest 3, cross-link 3, chain 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13901-F1	88.37	0.67

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 (3): 119, 126, 132

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-6791226	Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-9930044	Nuclear RNA decay
R-HSA-72312	rRNA processing
R-HSA-8868773	rRNA processing in the nucleus and cytosol
R-HSA-8953854	Metabolism of RNA

MSigDB gene sets: 723 (showing top): GOBP_PLATELET_DERIVED_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY, GOBP_SMAD_PROTEIN_SIGNAL_TRANSDUCTION, RNGTGGGC_UNKNOWN, GOBP_RIBOSOME_BIOGENESIS, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, HORIUCHI_WTAP_TARGETS_DN, TAATAAT_MIR126, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, GOBP_LYSOSOMAL_TRANSPORT, PAX4_01, TGCGCANK_UNKNOWN, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_INFLAMMATORY_RESPONSE, GOCC_VACUOLAR_MEMBRANE, NKX25_02

GO Biological Process (5): maturation of 5.8S rRNA (GO:0000460), apoptotic process (GO:0006915), regulation of gene expression (GO:0010468), rRNA processing (GO:0006364), negative regulation of DNA-templated transcription (GO:0045892)

GO Molecular Function (5): DNA binding (GO:0003677), transcription corepressor activity (GO:0003714), RNA binding (GO:0003723), nuclear receptor binding (GO:0016922), protein binding (GO:0005515)

GO Cellular Component (7): nuclear exosome (RNase complex) (GO:0000176), exosome (RNase complex) (GO:0000178), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), transcription repressor complex (GO:0017053)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Metabolism of RNA	2
rRNA processing in the nucleus and cytosol	1
rRNA processing	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nuclear lumen	3
nucleic acid binding	2
intracellular anatomical structure	2
cellular anatomical structure	2
rRNA processing	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
gene expression	1
regulation of macromolecule biosynthetic process	1
RNA processing	1
rRNA metabolic process	1
ribosome biogenesis	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
transcription coregulator activity	1
negative regulation of DNA-templated transcription	1
RNA polymerase II-specific DNA-binding transcription factor binding	1
binding	1
exosome (RNase complex)	1
nucleus	1
nuclear protein-containing complex	1
exoribonuclease complex	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
transcription regulator complex	1

Protein interactions and networks

STRING

1636 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C1D	EXOSC10	Q01780	997
C1D	MTREX	P42285	959
C1D	EXOSC5	Q9NQT4	882
C1D	DIS3	Q9Y2L1	864
C1D	EXOSC1	Q9Y3B2	855
C1D	UTP3	Q9NQZ2	768
C1D	EXOSC8	Q96B26	763
C1D	EXOSC6	Q5RKV6	748
C1D	ZCCHC7	Q8N3Z6	748
C1D	EXOSC3	Q9NQT5	746
C1D	EXOSC9	Q06265	745
C1D	MPHOSPH6	Q99547	743
C1D	EXOSC7	Q15024	743
C1D	EXOSC4	Q9NPD3	728
C1D	EXOSC2	Q13868	709

IntAct

70 interactions, top by confidence:

A	B	Type	Score
JUNB	FOS	psi-mi:“MI:0914”(association)	0.950
EXOSC1	EXOSC10	psi-mi:“MI:0914”(association)	0.810
EXOSC10	C1D	psi-mi:“MI:0403”(colocalization)	0.730
C1D	EXOSC10	psi-mi:“MI:0914”(association)	0.730
EXOSC10	C1D	psi-mi:“MI:0407”(direct interaction)	0.730
C1D	EXOSC10	psi-mi:“MI:0915”(physical association)	0.730
SH3GLB1	C1D	psi-mi:“MI:0915”(physical association)	0.720
C1D	SH3GLB1	psi-mi:“MI:0915”(physical association)	0.720
MPHOSPH6	MTREX	psi-mi:“MI:0914”(association)	0.690
C1D	ZFC3H1	psi-mi:“MI:0914”(association)	0.640
EXOSC5	ZFC3H1	psi-mi:“MI:0914”(association)	0.640
IL23R	C1D	psi-mi:“MI:0915”(physical association)	0.560
GSC2	C1D	psi-mi:“MI:0915”(physical association)	0.560
C1D	ZGPAT	psi-mi:“MI:0915”(physical association)	0.560
SUOX	C1D	psi-mi:“MI:0915”(physical association)	0.560
CASP6	C1D	psi-mi:“MI:0915”(physical association)	0.560
C1D	HIP1	psi-mi:“MI:0915”(physical association)	0.560
LAMP2	C1D	psi-mi:“MI:0915”(physical association)	0.560
RAN	C1D	psi-mi:“MI:0915”(physical association)	0.560
C1D	WFS1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (103): IL23R (Two-hybrid), C1D (Affinity Capture-MS), C1D (Affinity Capture-MS), C1D (Affinity Capture-MS), C1D (Affinity Capture-MS), C1D (Affinity Capture-MS), C1D (Affinity Capture-MS), C1D (Affinity Capture-MS), EXOSC3 (Affinity Capture-MS), EXOSC8 (Affinity Capture-MS), EXOSC1 (Affinity Capture-MS), EXOSC7 (Affinity Capture-MS), EXOSC10 (Affinity Capture-MS), MPHOSPH6 (Affinity Capture-MS), EXOSC4 (Affinity Capture-MS)

ESM2 similar proteins: A0AUQ6, A2BE76, O14645, O18973, O35427, O35473, O55003, O88447, O88597, P50503, Q05B58, Q12983, Q13901, Q14457, Q14AM7, Q14CZ0, Q28HY5, Q32KN2, Q32PE4, Q4A1L3, Q4A1L4, Q4A1L5, Q4R3K5, Q4R8N2, Q4RLT3, Q52LA3, Q5JSJ4, Q5NVP8, Q5R878, Q5RBU4, Q5TKA1, Q5ZHS3, Q5ZJQ3, Q68FJ8, Q6DKA1, Q6GMH0, Q6GP52, Q6PAX8, Q6X4M3, Q7TSU0

Diamond homologs: O35473, O74469, Q13901, Q32PE4, Q3KPR1, Q5RBU4, Q5XJ97, Q5ZHS3, Q7TSU0, P38801

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
C1D	“up-regulates activity”	NR1D1	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 39 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
Nuclear RNA decay	8	91.5×	2e-12
Major pathway of rRNA processing in the nucleolus and cytosol	9	20.6×	2e-08

GO biological processes:

GO term	Partners	Fold	FDR
RNA catabolic process	6	75.9×	5e-08
RNA processing	6	36.5×	2e-06
rRNA processing	7	27.5×	1e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	17
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

13272 predictions. Top by Δscore:

Variant	Effect	Δscore
12:57135594:G:GT	donor_gain	1.0000
12:57138457:A:AC	acceptor_loss	1.0000
12:57138457:A:AG	acceptor_gain	1.0000
12:57138458:G:GC	acceptor_gain	1.0000
12:57138458:GCCC:G	acceptor_gain	1.0000
12:57138577:GATTT:G	donor_gain	1.0000
12:57138578:ATTT:A	donor_gain	1.0000
12:57138579:TTT:T	donor_gain	1.0000
12:57138580:TT:T	donor_gain	1.0000
12:57138580:TTGTA:T	donor_loss	1.0000
12:57138581:TGT:T	donor_loss	1.0000
12:57138582:G:A	donor_loss	1.0000
12:57138582:G:GG	donor_gain	1.0000
12:57138583:TAA:T	donor_loss	1.0000
12:57141372:A:AG	acceptor_gain	1.0000
12:57141372:A:T	acceptor_loss	1.0000
12:57141373:G:GG	acceptor_gain	1.0000
12:57141511:GGTAA:G	donor_loss	1.0000
12:57141512:GTA:G	donor_loss	1.0000
12:57141513:T:G	donor_loss	1.0000
12:57143673:A:AG	acceptor_gain	1.0000
12:57143674:C:G	acceptor_gain	1.0000
12:57143674:CACA:C	acceptor_loss	1.0000
12:57143674:CACAG:C	acceptor_gain	1.0000
12:57143675:ACAG:A	acceptor_loss	1.0000
12:57143675:ACAGA:A	acceptor_gain	1.0000
12:57143676:C:G	acceptor_gain	1.0000
12:57143676:CAG:C	acceptor_gain	1.0000
12:57143677:A:AG	acceptor_gain	1.0000
12:57143677:AG:A	acceptor_loss	1.0000

AlphaMissense

927 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:68042974:G:T	A114D	0.998
2:68046356:A:G	S65P	0.998
2:68046392:C:G	A53P	0.998
2:68046347:A:G	W68R	0.997
2:68046347:A:T	W68R	0.997
2:68043048:T:A	R89S	0.995
2:68043048:T:G	R89S	0.995
2:68046391:G:T	A53E	0.995
2:68046001:A:T	V83E	0.994
2:68045993:C:T	E86K	0.993
2:68046357:A:C	N64K	0.993
2:68046357:A:T	N64K	0.993
2:68046025:C:A	G75V	0.992
2:68046368:A:C	Y61D	0.992
2:68046379:A:C	L57W	0.992
2:68042965:A:G	F117S	0.991
2:68045989:A:G	L87S	0.991
2:68045997:T:A	K84N	0.991
2:68045997:T:G	K84N	0.991
2:68043025:A:T	V97D	0.990
2:68043049:C:G	R89T	0.990
2:68046345:C:A	W68C	0.990
2:68046345:C:G	W68C	0.990
2:68042962:A:T	V118E	0.989
2:68045992:T:A	E86V	0.989
2:68046026:C:G	G75R	0.989
2:68046026:C:T	G75R	0.989
2:68043042:T:A	R91S	0.988
2:68043042:T:G	R91S	0.988
2:68046025:C:T	G75E	0.988

dbSNP variants (sampled 300 via entrez): RS1000118970 (2:68049480 A>G), RS1000276906 (2:68064052 G>T), RS1000529491 (2:68064873 G>A), RS1000714733 (2:68058887 G>A,C), RS1000756295 (2:68045691 A>G), RS1000773905 (2:68064951 C>T), RS1001020347 (2:68059158 T>A), RS1001173764 (2:68047098 C>A,T), RS1001175133 (2:68049830 A>G), RS1001339698 (2:68062738 A>G), RS1001422320 (2:68059436 T>G), RS1001690514 (2:68056123 T>C), RS1002024699 (2:68042060 GA>G,GAA), RS1002035222 (2:68051478 C>A), RS1002171235 (2:68051323 A>G)

Disease associations

OMIM: gene MIM:606997 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

43 total (30 of 43 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000290	Abnormal forehead morphology
HP:0000306	Abnormality of the chin
HP:0000464	Abnormality of the neck
HP:0000498	Blepharitis
HP:0000504	Abnormality of vision
HP:0000509	Conjunctivitis
HP:0000561	Absent eyelashes
HP:0000613	Photophobia
HP:0000653	Sparse eyelashes
HP:0000708	Atypical behavior
HP:0000982	Palmoplantar keratoderma
HP:0000989	Pruritus
HP:0001041	Facial erythema
HP:0001047	Atopic dermatitis
HP:0001067	Neurofibroma
HP:0001075	Atrophic scars
HP:0001131	Corneal dystrophy
HP:0001249	Intellectual disability
HP:0001374	Congenital hip dislocation
HP:0002287	Progressive alopecia
HP:0003274	Hypoplastic acetabulae
HP:0003593	Infantile onset
HP:0004426	Abnormal cheek morphology
HP:0004552	Scarring alopecia of scalp
HP:0007502	Follicular hyperkeratosis
HP:0007515	Hypoplastic pilosebaceous units
HP:0008404	Nail dystrophy
HP:0009926	Epiphora

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST003807_1	Systolic blood pressure response to hydrochlorothiazide in hypertension	7.000000e-06
GCST003983_23	Male-pattern baldness	6.000000e-12
GCST004227_2	Obstetric antiphospholipid syndrome	5.000000e-08
GCST005042_4	Restless legs syndrome	1.000000e-58
GCST006087_11	Familial lung adenocarcinoma	1.000000e-06
GCST010320_74	PR interval	1.000000e-06
GCST010321_192	PR interval	2.000000e-08
GCST012311_16	Schizophrenia x sex interaction	2.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0006944	systolic blood pressure change measurement
EFO:0006953	family history of lung cancer
EFO:0004462	PR interval
EFO:0008343	sex interaction measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

7 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1057451	LRP1, MVP, PAGR1		0.00	0
rs4788184	LRP1, MVP, PAGR1		0.00	0
rs4788186	LRP1, MVP		0.00	0
rs7204252	LRP1		0.00	0
rs11172113	LRP1		0.00	0
rs1800139	LRP1		0.00	0
rs1800154	LRP1		0.00	0

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects expression, increases abundance, decreases expression	2
TAK-243	increases sumoylation	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
sodium arsenite	increases expression, increases abundance	1
perfluorooctanoic acid	increases expression	1
zinc chromate	increases expression, increases abundance	1
chromium hexavalent ion	increases abundance, increases expression	1
perfluorooctane sulfonic acid	increases expression	1
4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide	increases expression	1
thifluzamide	increases expression	1
jinfukang	decreases expression	1
MT19c compound	increases expression	1
Fulvestrant	decreases methylation	1
Antimycin A	increases expression	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Bilirubin	decreases expression	1
Cadmium	decreases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Gold	decreases expression	1
Ozone	increases abundance, affects expression	1
Piroxicam	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Particulate Matter	decreases expression, increases abundance	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1LR	Abcam HeLa C1D KO	Cancer cell line	Female

Clinical trials (associated diseases)

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