CDIN1

Summary

CDIN1 (CDAN1 interacting nuclease 1, HGNC:26929) is a protein-coding gene on chromosome 15q14, encoding CDAN1-interacting nuclease 1 (Q9Y2V0). Plays a role in erythroid cell differentiation. It is a selective cancer dependency (DepMap: 18.4% of cell lines).

This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 84529 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital dyserythropoietic anemia type type 1B (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 41
• Clinical variants (ClinVar): 148 total — 2 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 16
• Cancer dependency (DepMap): dependent in 18.4% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_001321759

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26929
Approved symbol	CDIN1
Name	CDAN1 interacting nuclease 1
Location	15q14
Locus type	gene with protein product
Status	Approved
Aliases	HH114, MGC11326, FLJ22851
Ensembl gene	ENSG00000186073
Ensembl biotype	protein_coding
OMIM	615626
Entrez	84529

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 15 protein_coding, 5 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 2 retained_intron

ENST00000338183, ENST00000437989, ENST00000562489, ENST00000562877, ENST00000563167, ENST00000564586, ENST00000565792, ENST00000566621, ENST00000566677, ENST00000566807, ENST00000566932, ENST00000567389, ENST00000567573, ENST00000569302, ENST00000570265, ENST00000642817, ENST00000643612, ENST00000643822, ENST00000643837, ENST00000646533, ENST00000646657, ENST00000647059, ENST00000866625, ENST00000866626, ENST00000866627

RefSeq mRNA: 10 — MANE Select: NM_001321759 NM_001130010, NM_001290232, NM_001290233, NM_001321756, NM_001321757, NM_001321758, NM_001321759, NM_001321760, NM_001321761, NM_032499

CCDS: CCDS45215, CCDS45216, CCDS81861, CCDS86445, CCDS86446, CCDS86447

Canonical transcript exons

ENST00000566621 — 11 exons

Exon	Start	End
ENSE00001719575	36579626	36579961
ENSE00002627147	36808324	36810244
ENSE00003541637	36644278	36644323
ENSE00003550015	36709856	36709961
ENSE00003588168	36697323	36697390
ENSE00003595441	36645223	36645287
ENSE00003602952	36654098	36654158
ENSE00003621726	36692126	36692175
ENSE00003658661	36657833	36657905
ENSE00003665101	36709223	36709288
ENSE00003665385	36691685	36691764

Expression profiles

Bgee: expression breadth ubiquitous, 226 present calls, max score 99.12.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.3097 / max 294.2909, expressed in 1704 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
145831	8.4279	1686
145832	0.9258	636
145835	0.4549	220
145838	0.4491	16
145834	0.3924	199
145833	0.3615	179
145836	0.2044	97
145837	0.0703	23
145840	0.0234	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	99.12	gold quality
heart right ventricle	UBERON:0002080	98.64	gold quality
cardiac ventricle	UBERON:0002082	95.67	gold quality
heart left ventricle	UBERON:0002084	95.60	gold quality
buccal mucosa cell	CL:0002336	94.12	silver quality
apex of heart	UBERON:0002098	93.58	gold quality
ventricular zone	UBERON:0003053	93.55	gold quality
myocardium	UBERON:0002349	91.12	gold quality
hindlimb stylopod muscle	UBERON:0004252	89.00	gold quality
heart	UBERON:0000948	88.35	gold quality
ganglionic eminence	UBERON:0004023	87.96	gold quality
biceps brachii	UBERON:0001507	85.51	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	85.40	silver quality
lower esophagus mucosa	UBERON:0035834	85.09	gold quality
secondary oocyte	CL:0000655	84.83	gold quality
cortical plate	UBERON:0005343	84.79	gold quality
vagina	UBERON:0000996	83.83	gold quality
adrenal tissue	UBERON:0018303	83.76	gold quality
vastus lateralis	UBERON:0001379	83.58	silver quality
quadriceps femoris	UBERON:0001377	83.37	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.06	gold quality
urinary bladder	UBERON:0001255	82.96	gold quality
smooth muscle tissue	UBERON:0001135	82.72	gold quality
sperm	CL:0000019	82.68	gold quality
calcaneal tendon	UBERON:0003701	82.57	gold quality
skeletal muscle tissue	UBERON:0001134	82.53	gold quality
tibialis anterior	UBERON:0001385	82.29	silver quality
muscle tissue	UBERON:0002385	82.10	gold quality
stromal cell of endometrium	CL:0002255	82.05	gold quality
esophagus squamous epithelium	UBERON:0006920	81.91	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	6.17

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

152 targeting CDIN1, 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-6867-5P	100.00	82.21	3464
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-568	99.98	69.86	2084
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-3148	99.97	75.06	6478
HSA-LET-7D-5P	99.96	71.76	1632

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 18.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 5)

• Mutation in C!%ORF41 gene is associated with congenital dyserythropoietic anemia. (PMID:29031773)
• A complex comprising C15ORF41 and Codanin-1: the products of two genes mutated in congenital dyserythropoietic anaemia type I (CDA-I). (PMID:32239177)
• Characterization of the interactions between Codanin-1 and C15Orf41, two proteins implicated in congenital dyserythropoietic anemia type I disease. (PMID:32293259)
• Genetic and functional insights into CDA-I prevalence and pathogenesis. (PMID:32518175)
• Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene. (PMID:33159567)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	cdin1	ENSDARG00000070461
mus_musculus	Cdin1	ENSMUSG00000040282
rattus_norvegicus	Cdin1	ENSRNOG00000004571
drosophila_melanogaster	CG12713	FBGN0036536

Protein

Protein identifiers

CDAN1-interacting nuclease 1 — Q9Y2V0 (reviewed: Q9Y2V0)

Alternative names: Protein HH114

All UniProt accessions (11): A0A2R8Y7J6, A0A2R8YD89, A0A2R8YDB2, A0A2R8YEF3, A0A2R8YEW7, A0A2R8YEZ2, Q9Y2V0, H3BMD3, H3BNF9, H3BS01, H3BTL3

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in erythroid cell differentiation.

Subcellular location. Nucleus. Cytoplasm.

Disease relevance. Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631] An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y2V0-1	1	yes
Q9Y2V0-2	2

RefSeq proteins (10): NP_001123482, NP_001277161, NP_001277162, NP_001308685, NP_001308686, NP_001308687, NP_001308688, NP_001308689, NP_001308690, NP_115888 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029404	CDIN1	Family

Pfam: PF14811

UniProt features (13 total): sequence variant 10, chain 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2V0-F1	93.59	0.87

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): 114

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 200 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, AAGCAAT_MIR137, GOBP_MYELOID_CELL_HOMEOSTASIS, GAANYNYGACNY_UNKNOWN, NKX25_02, GOBP_ERYTHROCYTE_HOMEOSTASIS, chr15q14, TGACCTY_ERR1_Q2, PATIL_LIVER_CANCER, CEBP_Q2, NKX62_Q2, BRN2_01, GATA6_01, TGIF_01, ATTACAT_MIR3803P

GO Biological Process (1): erythrocyte differentiation (GO:0030218)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
myeloid cell differentiation	1
erythrocyte homeostasis	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1462 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CDIN1	CDAN1	Q8IWY9	904
CDIN1	SEC23B	Q15437	723
CDIN1	FAM98B	Q52LJ0	582
CDIN1	KIF23	Q02241	544
CDIN1	KLF1	Q13351	530
CDIN1	C1orf146	Q5VVC0	509
CDIN1	MEIS2	O14770	472
CDIN1	DPH6	Q7L8W6	471
CDIN1	ASF1B	Q9NVP2	449
CDIN1	GATA1	P15976	423
CDIN1	SYTL3	Q4VX76	415
CDIN1	EPB42	P16452	403
CDIN1	C2CD3	Q4AC94	396
CDIN1	IPO4	Q8TEX9	366
CDIN1	PKLR	P11973	355

IntAct

14 interactions, top by confidence:

A	B	Type	Score
ASF1A	HAT1	psi-mi:“MI:0914”(association)	0.640
ASF1B	HAT1	psi-mi:“MI:0914”(association)	0.640
TRIP13	CDIN1	psi-mi:“MI:0915”(physical association)	0.560
ASF1A	MCM4	psi-mi:“MI:0914”(association)	0.530
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
ASF1A	CDAN1	psi-mi:“MI:0914”(association)	0.350
ASF1B	HAT1	psi-mi:“MI:0914”(association)	0.350
CDIN1	ZNF609	psi-mi:“MI:0914”(association)	0.350
MFSD9	PGRMC1	psi-mi:“MI:0914”(association)	0.350
ASF1B	CDIN1	psi-mi:“MI:0915”(physical association)	0.000
CDIN1	TRIP13	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (41): C15orf41 (Proximity Label-MS), C15orf41 (Affinity Capture-MS), C15orf41 (Affinity Capture-MS), C15orf41 (Affinity Capture-MS), C15orf41 (Affinity Capture-RNA), C15orf41 (Affinity Capture-MS), C15orf41 (Affinity Capture-RNA), C15orf41 (Two-hybrid), C15orf41 (Affinity Capture-MS), C15orf41 (Affinity Capture-MS), C15orf41 (Affinity Capture-MS), C15orf41 (Affinity Capture-MS), C15orf41 (Affinity Capture-MS), CABIN1 (Affinity Capture-MS), C15orf41 (Affinity Capture-MS)

ESM2 similar proteins: A1Z3X3, A4GWN3, A5PK00, B2RYZ5, B9SQI7, E9Q4Z2, O00763, O23948, O82703, O88447, P0C0A2, P0CAN7, P11019, P31402, P36543, P50518, P54611, Q04499, Q32LB7, Q39258, Q3KPT5, Q3U4G0, Q40272, Q41396, Q4A1L3, Q4R761, Q5E9S8, Q5RJU0, Q5RK19, Q5U3V9, Q6DDF4, Q6GP52, Q6PCU2, Q7SZ78, Q7ZVK4, Q86VN1, Q8VZM1, Q91XD6, Q95X44, Q96A05

Diamond homologs: Q08BW6, Q28HL3, Q3U4G0, Q5E9S8, Q5F476, Q6NRW5, Q9Y2V0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	3
Uncertain significance	41
Likely benign	48
Benign	38

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
395223	GRCh37/hg19 15q14(chr15:36905047-40037396)x4	Pathogenic
57226	GRCh38/hg38 15q14(chr15:34995451-39735062)x1	Pathogenic
692135	NM_001321759.2(CDIN1):c.689A>C (p.His230Pro)	Likely pathogenic
97057	NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln)	Likely pathogenic
97058	NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys)	Likely pathogenic

SpliceAI

3002 predictions. Top by Δscore:

Variant	Effect	Δscore
15:36644276:A:AG	acceptor_gain	1.0000
15:36644277:G:GC	acceptor_gain	1.0000
15:36644277:GTCA:G	acceptor_gain	1.0000
15:36645285:GAG:G	donor_gain	1.0000
15:36654092:GTCTA:G	acceptor_loss	1.0000
15:36654093:TCTA:T	acceptor_loss	1.0000
15:36654094:CTA:C	acceptor_loss	1.0000
15:36654095:TAG:T	acceptor_loss	1.0000
15:36654096:A:AC	acceptor_loss	1.0000
15:36654155:TGAGG:T	donor_loss	1.0000
15:36654156:GAG:G	donor_gain	1.0000
15:36654156:GAGG:G	donor_loss	1.0000
15:36654157:AGGTA:A	donor_loss	1.0000
15:36654158:GGTAA:G	donor_loss	1.0000
15:36654159:G:A	donor_loss	1.0000
15:36654160:T:G	donor_loss	1.0000
15:36657828:T:G	acceptor_gain	1.0000
15:36657829:A:AG	acceptor_gain	1.0000
15:36657829:AAAG:A	acceptor_gain	1.0000
15:36657829:AAAGG:A	acceptor_loss	1.0000
15:36657830:A:G	acceptor_gain	1.0000
15:36657831:A:C	acceptor_loss	1.0000
15:36657901:TCCAC:T	donor_gain	1.0000
15:36657903:CAC:C	donor_gain	1.0000
15:36657904:AC:A	donor_gain	1.0000
15:36657904:ACG:A	donor_loss	1.0000
15:36657905:CG:C	donor_loss	1.0000
15:36657906:G:GA	donor_loss	1.0000
15:36657906:G:GG	donor_gain	1.0000
15:36657907:TGA:T	donor_loss	1.0000

AlphaMissense

1851 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:36709262:C:A	P195Q	1.000
15:36709879:T:A	W212R	1.000
15:36709879:T:C	W212R	1.000
15:36709892:A:T	K216I	1.000
15:36709893:A:C	K216N	1.000
15:36709893:A:T	K216N	1.000
15:36692151:G:A	G151E	0.999
15:36709235:T:C	L186P	0.999
15:36709261:C:T	P195S	0.999
15:36709881:G:C	W212C	0.999
15:36709881:G:T	W212C	0.999
15:36709886:A:T	E214V	0.999
15:36709888:A:C	S215R	0.999
15:36709890:C:A	S215R	0.999
15:36709890:C:G	S215R	0.999
15:36709891:A:C	K216Q	0.999
15:36709891:A:G	K216E	0.999
15:36709900:T:C	F219L	0.999
15:36709902:T:A	F219L	0.999
15:36709902:T:G	F219L	0.999
15:36709904:G:A	G220D	0.999
15:36709951:T:C	Y236H	0.999
15:36709961:G:C	R239T	0.999
15:36808325:T:C	F240L	0.999
15:36808327:T:A	F240L	0.999
15:36808327:T:G	F240L	0.999
15:36808328:G:T	G241W	0.999
15:36808329:G:A	G241E	0.999
15:36808335:G:A	G243D	0.999
15:36644300:A:C	S42R	0.998

dbSNP variants (sampled 300 via entrez): RS1000005759 (15:36605902 G>A), RS1000005760 (15:36765665 T>G), RS1000040825 (15:36777334 CACTT>C), RS1000049932 (15:36786524 G>A,C), RS1000065393 (15:36654682 A>G,T), RS1000069288 (15:36727379 C>A,T), RS1000099730 (15:36727097 A>C,G), RS1000108785 (15:36681834 C>G), RS1000117735 (15:36648194 T>C,G), RS1000127388 (15:36676042 G>C), RS1000131811 (15:36771712 G>A), RS1000157840 (15:36740734 C>A,G), RS1000168118 (15:36637636 G>A), RS1000172338 (15:36648517 C>T), RS1000199173 (15:36773256 C>T)

Disease associations

OMIM: gene MIM:615626 | disease phenotypes: MIM:615631

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital dyserythropoietic anemia type type 1B	Strong	Autosomal recessive
congenital dyserythropoietic anemia type 1	Supportive	Autosomal recessive

Mondo (2): congenital dyserythropoietic anemia type type 1B (MONDO:0014285), congenital dyserythropoietic anemia type 1 (MONDO:0020337)

Orphanet (1): Congenital dyserythropoietic anemia type I (Orphanet:98869)

HPO phenotypes

16 total (16 of 16 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000952	Jaundice
HP:0000980	Pallor
HP:0001159	Syndactyly
HP:0001510	Growth delay
HP:0001744	Splenomegaly
HP:0001792	Small nail
HP:0001903	Anemia
HP:0001923	Reticulocytosis
HP:0002240	Hepatomegaly
HP:0004322	Short stature
HP:0004447	Poikilocytosis
HP:0010972	Anemia of inadequate production
HP:0011273	Anisocytosis
HP:0012132	Erythroid hyperplasia
HP:0034278	Multinucleated erythroblast

GWAS associations

41 associations (top):

Study	Trait	p-value
GCST003992_40	Photic sneeze reflex	6.000000e-17
GCST008290_1	Alcohol dependence (time spent drinking)	2.000000e-08
GCST010796_1316	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-13
GCST010796_1317	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-10
GCST010796_1318	Electrocardiogram morphology (amplitude at temporal datapoints)	6.000000e-11
GCST010796_1319	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_1320	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-09
GCST010796_1321	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-10
GCST010796_1322	Electrocardiogram morphology (amplitude at temporal datapoints)	6.000000e-11
GCST010796_1323	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-10
GCST010796_1324	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-10
GCST010796_1325	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-12
GCST010796_1451	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-12
GCST010796_1452	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-12
GCST010796_1453	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-11
GCST010796_1454	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-11
GCST010796_1455	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-11
GCST010796_1456	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-09
GCST010796_1457	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-09
GCST010796_1458	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-10
GCST010796_1459	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-11
GCST010796_1460	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-11
GCST010796_1461	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-11
GCST010796_1462	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-10
GCST010796_1463	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-11
GCST010796_1464	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-10
GCST010796_1465	Electrocardiogram morphology (amplitude at temporal datapoints)	6.000000e-10
GCST010796_1466	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-09
GCST010796_1467	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-09
GCST010796_1468	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-11

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0007887	autosomal dominant compelling helio-ophthalmic outburst syndrome
EFO:0007835	alcohol dependence measurement
EFO:0004327	electrocardiography
EFO:0010701	mean reticulocyte volume
EFO:0009188	Red cell distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

31 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, decreases methylation	4
Cyclosporine	increases expression, increases methylation	2
aristolochic acid I	decreases expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
bisphenol A	increases expression	1
kojic acid	increases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
abrine	decreases expression	1
bisphenol S	decreases methylation	1
jinfukang	increases expression	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	decreases expression	1
Acrolein	increases abundance, affects cotreatment, increases expression	1
Air Pollutants	affects cotreatment, increases abundance, increases expression	1
Arbutin	increases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Cadmium	decreases expression, increases abundance	1
Cisplatin	increases expression	1
Doxorubicin	decreases expression	1
Ozone	affects cotreatment, increases expression, increases abundance	1
Phthalic Acids	affects methylation	1
Testosterone	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Aflatoxin B1	decreases methylation	1
Antirheumatic Agents	increases expression	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01795794	PHASE4	UNKNOWN	Evaluation of the Efficacy in Decreasing Iron Absorption in Patients With Congenital Dyserythropoietic Anemia Type I by Treatment With LOSEC