ASCL5

Summary

ASCL5 (achaete-scute family bHLH transcription factor 5, HGNC:33169) is a protein-coding gene on chromosome 1q32.1, encoding Achaete-scute homolog 5 (Q7RTU5). Transcription factor.

Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific; DNA-binding transcription factor binding activity; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in ameloblast differentiation; amelogenesis; and positive regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be part of RNA polymerase II transcription regulator complex.

Source: NCBI Gene 647219 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 2 total — 1 likely-pathogenic
• GTEx eGene: eQTL in 33 tissues, sQTL in 0 (q < 0.05)
• Phenotypes (HPO): 2
• Constraint (gnomAD): pLI 0.42 (intermediate), LOEUF 1.70 (unconstrained)
• MANE Select transcript: NM_001270601

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33169
Approved symbol	ASCL5
Name	achaete-scute family bHLH transcription factor 5
Location	1q32.1
Locus type	gene with protein product
Status	Approved
Aliases	bHLHa47, ASH-5, AmeloD
Ensembl gene	ENSG00000232237
Ensembl biotype	protein_coding
OMIM	620809
Entrez	647219

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

MANE Select: ENST00000449188

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 3: 1

ENST00000449188

RefSeq mRNA: 1 — MANE Select: NM_001270601 NM_001270601

CCDS: CCDS59202

Canonical transcript exons

ENST00000449188 — 2 exons

Exon	Start	End
ENSE00001662950	201127084	201127184
ENSE00001698446	201113943	201115877

Expression profiles

Bgee: expression breadth broad, 90 present calls, max score 61.40.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0334 / max 9.6912, expressed in 10 samples.

Highest expression (Bgee): body of pancreas, prefrontal cortex, nucleus accumbens, pancreas, gastrocnemius.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ASCL5 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 33 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 33 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Thyroid	eqtl	5.8e-128	-0.98	1:201114378:A:G
Lung	eqtl	1.6e-48	-0.74	1:201114378:A:G
Artery Aorta	eqtl	2.5e-46	-0.78	1:201114378:A:G
Pituitary	eqtl	4.6e-46	-0.93	1:201114378:A:G
Artery Tibial	eqtl	1.6e-42	-0.64	1:201114215:A:G
Nerve Tibial	eqtl	9.3e-42	-0.76	1:201116393:C:T
Prostate	eqtl	3.7e-33	-0.92	1:201114215:A:G
Esophagus Muscularis	eqtl	3.4e-28	-0.59	1:201114378:A:G
Brain Cerebellum	eqtl	6.9e-27	-0.91	1:201114215:A:G
Muscle Skeletal	eqtl	1.4e-25	-0.37	1:201121913:C:A
Adrenal Gland	eqtl	8.6e-24	-0.85	1:201114215:A:G
Brain Cerebellar Hemisphere	eqtl	1.1e-23	-0.83	1:201114215:A:G
Ovary	eqtl	8.1e-21	-0.74	1:201114378:A:G
Esophagus Gastroesophageal Junction	eqtl	9.4e-20	-0.65	1:201114215:A:G
Testis	eqtl	2.4e-18	-0.81	1:201116032:T:C
Colon Transverse	eqtl	6.7e-17	-0.58	1:201127255:A:G
Heart Atrial Appendage	eqtl	2.5e-16	-0.57	1:201114215:A:G
Colon Sigmoid	eqtl	4.2e-16	-0.60	1:201116393:C:T
Artery Coronary	eqtl	2.2e-15	-0.69	1:201114378:A:G
Minor Salivary Gland	eqtl	3.2e-14	-0.85	1:201116393:C:T

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
16604	0.0334	10

Top tissues by expression

showing 100 of 216 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	61.40	gold quality
prefrontal cortex	UBERON:0000451	56.82	gold quality
nucleus accumbens	UBERON:0001882	54.15	gold quality
pancreas	UBERON:0001264	53.53	gold quality
gastrocnemius	UBERON:0001388	52.42	gold quality
hypothalamus	UBERON:0001898	52.12	gold quality
muscle of leg	UBERON:0001383	51.65	gold quality
frontal cortex	UBERON:0001870	51.57	gold quality
Brodmann (1909) area 9	UBERON:0013540	51.57	gold quality
neocortex	UBERON:0001950	50.82	gold quality
anterior cingulate cortex	UBERON:0009835	50.43	gold quality
right frontal lobe	UBERON:0002810	49.99	gold quality
stromal cell of endometrium	CL:0002255	49.85	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	49.44	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	49.08	silver quality
ganglionic eminence	UBERON:0004023	48.83	silver quality
cerebral cortex	UBERON:0000956	48.75	gold quality
amygdala	UBERON:0001876	48.30	gold quality
hindlimb stylopod muscle	UBERON:0004252	48.17	silver quality
Brodmann (1909) area 46	UBERON:0006483	47.87	gold quality
forebrain	UBERON:0001890	47.36	gold quality
ventricular zone	UBERON:0003053	47.00	gold quality
right coronary artery	UBERON:0001625	46.94	gold quality
middle temporal gyrus	UBERON:0002771	46.49	gold quality
brain	UBERON:0000955	46.32	gold quality
bone marrow cell	CL:0002092	46.31	gold quality
buccal mucosa cell	CL:0002336	45.81	gold quality
left ovary	UBERON:0002119	45.71	gold quality
skeletal muscle tissue	UBERON:0001134	45.69	silver quality
Ammon’s horn	UBERON:0001954	45.47	gold quality
descending thoracic aorta	UBERON:0002345	45.31	gold quality
temporal lobe	UBERON:0001871	45.24	gold quality
substantia nigra	UBERON:0002038	44.91	gold quality
right lung	UBERON:0002167	44.85	gold quality
ovary	UBERON:0000992	44.76	gold quality
muscle tissue	UBERON:0002385	44.45	silver quality
right ovary	UBERON:0002118	44.44	silver quality
caudate nucleus	UBERON:0001873	44.35	gold quality
midbrain	UBERON:0001891	44.27	gold quality
cortical plate	UBERON:0005343	44.22	silver quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
primary visual cortex	UBERON:0002436	43.31	silver quality
putamen	UBERON:0001874	43.22	gold quality
amniotic fluid	UBERON:0000173	42.77	gold quality
popliteal artery	UBERON:0002250	42.75	gold quality
tibial artery	UBERON:0007610	42.74	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
right uterine tube	UBERON:0001302	42.49	silver quality
substantia nigra pars reticulata	UBERON:0001966	42.47	gold quality
Brodmann (1909) area 23	UBERON:0013554	42.40	gold quality
right lobe of thyroid gland	UBERON:0001119	42.28	silver quality
superior frontal gyrus	UBERON:0002661	42.08	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	42.08	gold quality
aorta	UBERON:0000947	41.73	gold quality
vastus lateralis	UBERON:0001379	41.41	gold quality
quadriceps femoris	UBERON:0001377	41.37	gold quality
skin of hip	UBERON:0001554	41.37	silver quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
right hemisphere of cerebellum	UBERON:0014890	41.26	gold quality
biceps brachii	UBERON:0001507	41.18	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
cerebellar hemisphere	UBERON:0002245	40.90	gold quality
granulocyte	CL:0000094	40.88	gold quality
cerebellar cortex	UBERON:0002129	40.88	gold quality
endocervix	UBERON:0000458	40.87	silver quality
parotid gland	UBERON:0001831	40.81	gold quality
cerebellum	UBERON:0002037	40.81	silver quality
duodenum	UBERON:0002114	40.72	gold quality
jejunal mucosa	UBERON:0000399	40.59	gold quality
body of stomach	UBERON:0001161	40.50	silver quality
medial globus pallidus	UBERON:0002477	40.49	gold quality
epithelium of nasopharynx	UBERON:0001951	40.45	gold quality
myocardium	UBERON:0002349	40.45	gold quality
gingival epithelium	UBERON:0001949	40.43	gold quality
thoracic aorta	UBERON:0001515	40.40	silver quality
pituitary gland	UBERON:0000007	40.37	silver quality
germinal epithelium of ovary	UBERON:0001304	40.33	gold quality
mucosa of stomach	UBERON:0001199	40.32	silver quality
urinary bladder	UBERON:0001255	40.29	silver quality
esophagus squamous epithelium	UBERON:0006920	40.29	gold quality
bone marrow	UBERON:0002371	40.26	gold quality
globus pallidus	UBERON:0001875	40.20	gold quality
thyroid gland	UBERON:0002046	40.19	silver quality
jejunum	UBERON:0002115	40.18	gold quality
ascending aorta	UBERON:0001496	40.14	silver quality
entorhinal cortex	UBERON:0002728	40.13	gold quality
cartilage tissue	UBERON:0002418	40.06	gold quality
oviduct epithelium	UBERON:0004804	40.03	gold quality
mammary duct	UBERON:0001765	39.98	gold quality
mucosa of sigmoid colon	UBERON:0004993	39.95	gold quality
stomach	UBERON:0000945	39.93	silver quality
colonic mucosa	UBERON:0000317	39.92	gold quality
left adrenal gland	UBERON:0001234	39.86	silver quality
deltoid	UBERON:0001476	39.83	gold quality
saphenous vein	UBERON:0007318	39.83	gold quality
oocyte	CL:0000023	39.80	gold quality
urethra	UBERON:0000057	39.80	gold quality
heart right ventricle	UBERON:0002080	39.79	gold quality
pericardium	UBERON:0002407	39.77	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.52

HPA expression

RNA tissue specificity: Tissue enhanced

38 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Nucleus accumbens	tissue	2.6
Hippocampus	tissue	2.5
Postcentral gyrus	tissue	2.0
Pancreas	tissue	1.7
Locus coeruleus	tissue	1.7
Frontal cortex	tissue	1.6
Choroid plexus	tissue	0.4
Hypothalamus	tissue	0.4
Hippocampal formation	tissue	0.4
Retina	tissue	0.3
Skeletal muscle	tissue	0.3
Endometrium 1	tissue	0.3
Spinal cord	tissue	0.3
Entorhinal cortex	tissue	0.3
Olfactory bulb	tissue	0.3
Pituitary gland	tissue	0.2
Prefrontal cortex	tissue	0.2
Cerebral cortex	tissue	0.2
Pons	tissue	0.2
Motor cortex	tissue	0.2
Amygdala	tissue	0.2
Medulla oblongata	tissue	0.2
Thalamus	tissue	0.2
Substantia nigra	tissue	0.2
Retrosplenial and cingulate cortex	tissue	0.2
Periaqueductal gray	tissue	0.2
Septum	tissue	0.2
Insular cortex	tissue	0.2
Lymph node	tissue	0.1
Stomach 1	tissue	0.1
Vagina	tissue	0.1
Midbrain	tissue	0.1
Lung	tissue	0.1
Spleen	tissue	0.1
Small intestine	tissue	0.1
Prostate	tissue	0.1
Temporal cortex	tissue	0.1
Occipital cortex	tissue	0.1

Brain sub-regions (HPA Brain Atlas): detected in 187; highest nTPM — Arcuate nucleus (3.9), Hippocampus, CA3 (3.7), Ventromedial nucleus (3.5), Hippocampus, CA1 (3.3), Olfactory area (3.3).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting ASCL5 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

15 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-5693	99.24	66.67	1106
HSA-MIR-622	98.99	66.48	1050
HSA-MIR-7851-3P	98.72	64.88	980
HSA-MIR-6880-5P	98.08	65.59	1282
HSA-MIR-4456	97.50	64.88	1678
HSA-MIR-15A-3P	97.47	65.08	527
HSA-MIR-4529-5P	96.74	65.77	569
HSA-MIR-151A-5P	95.79	68.73	162
HSA-MIR-151B	95.79	68.73	162
HSA-MIR-4749-5P	92.16	62.26	179
HSA-MIR-6767-5P	90.00	62.41	97
HSA-MIR-6089	89.72	61.35	324

Functional genomics

gnomAD constraint: pLI 0.417, LOEUF 1.7, missense Z -0.41 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000449188 — one region, missense o/e 0.97.

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ascl5	ENSMUSG00000097918
rattus_norvegicus	Ascl5	ENSRNOG00000033391
drosophila_melanogaster	ac	FBGN0000022
drosophila_melanogaster	ase	FBGN0000137
drosophila_melanogaster	l(1)sc	FBGN0002561
drosophila_melanogaster	sc	FBGN0004170
caenorhabditis_elegans		WBGENE00001958

Paralogs (4): ASCL1 (ENSG00000139352), ASCL3 (ENSG00000176009), ASCL2 (ENSG00000183734), ASCL4 (ENSG00000187855)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:2685043) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 20 distinct phenotype terms.

Mouse phenotype (MP)	Records
decreased bone mineral density	1
short mandible	1
decreased compact bone thickness	1
abnormal heart morphology	1
enlarged heart	1
abnormal spleen morphology	1
abnormal thymus morphology	1
enlarged thymus	1
decreased body size	1
abnormal skin morphology	1
cachexia	1
decreased molar number	1
small molars	1
increased circulating creatine kinase level	1
long upper incisors	1
abnormal lower incisor morphology	1
abnormal upper incisor morphology	1
abnormal molar cusp morphology	1
abnormal molar root morphology	1
taurodontia	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Oryctolagus cuniculus	P57100	96.8%	Diamond
Bos taurus	Q0VCE2	96.8%	Diamond
Ovis aries	Q28555	94.6%	Diamond
Danio rerio	Q90259	93.7%	Diamond
Xenopus laevis	Q06234	88.4%	Diamond
Gallus gallus	Q90691	70.7%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
KIF21B	protein-coding	23046
CACNA1S	protein-coding	779
TMEM9	protein-coding	252839
IGFN1	protein-coding	91156
PKP1	protein-coding	5317

Protein

Protein identifiers

Achaete-scute homolog 5 — Q7RTU5 (reviewed: Q7RTU5)

Alternative names: Class A basic helix-loop-helix protein 47

All UniProt accessions (2): M0R2M9, Q7RTU5

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor. Probably binds E-box motifs 5’-CANNTG-3’ in complex with transcription factor TCF3/E12. Negatively modulates transcription of target genes such as CDH1/E-cadherin, perhaps by recruiting the PRC2 repressive complex to regulatory elements. Regulates ameloblast development and tooth germ growth, perhaps acting by positively modulating migration of inner enamel epithelium (IEE) cells. Plays a role in enamel formation.

Subunit / interactions. Interacts with transcription factor TCF3/E12.

Subcellular location. Nucleus.

RefSeq proteins (1): NP_001257530* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011598	bHLH_dom	Domain
IPR036638	HLH_DNA-bd_sf	Homologous_superfamily
IPR050283	E-box_TF_Regulators	Family

Pfam: PF00010

UniProt features (8 total): region of interest 3, compositionally biased region 3, chain 1, domain 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7RTU5-F1	64.17	0.19

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at transcript level

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 17 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, GOCC_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATOR_COMPLEX, GOCC_TRANSCRIPTION_REGULATOR_COMPLEX, GOMF_PROTEIN_DIMERIZATION_ACTIVITY, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOMF_DNA_BINDING_TRANSCRIPTION_REPRESSOR_ACTIVITY, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, ID1_TARGET_GENES, GOCC_NUCLEAR_PROTEIN_CONTAINING_COMPLEX, CARRILLOREIXACH_HEPATOBLASTOMA_VS_NORMAL_UP, GOMF_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY, GOMF_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATORY_REGION_SEQUENCE_SPECIFIC_DNA_BINDING, GOBP_NEGATIVE_REGULATION_OF_RNA_BIOSYNTHETIC_PROCESS

GO Biological Process (4): DNA-templated transcription (GO:0006351), regulation of transcription by RNA polymerase II (GO:0006357), animal organ development (GO:0048513), epithelium development (GO:0060429)

GO Molecular Function (4): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), protein dimerization activity (GO:0046983)

GO Cellular Component (2): chromatin (GO:0000785), RNA polymerase II transcription regulator complex (GO:0090575)

GO top-level categories

19 GO namespaces:

Category	Terms
animal gross anatomical part developmental process	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
gene expression	1
RNA biosynthetic process	1
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
tissue development	1
transcription cis-regulatory region binding	1
chromatin	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
negative regulation of transcription by RNA polymerase II	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription repressor activity	1
protein binding	1
chromosome	1
cellular anatomical structure	1
transcription regulator complex	1
nuclear protein-containing complex	1

Protein interactions and networks

STRING

showing 15 of 264 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASCL5	ACSL5	Q9ULC5	527
ASCL5	BHLHE23	Q8NDY6	514
ASCL5	BHLHA9	Q7RTU4	500
ASCL5	TMEM170B	Q5T4T1	484
ASCL5	LRRC75B	Q2VPJ9	363
ASCL5	MAIP1	Q8WWC4	361
ASCL5	ACSL6	Q9UKU0	304
ASCL5	TMEM63C	Q9P1W3	302
ASCL5	TCF24	Q7RTU0	301
ASCL5	GAGE12J	A6NER3	299
ASCL5	ZNF316	A6NFI3	286
ASCL5	GCDH	Q92947	282
ASCL5	MFSD6L	Q8IWD5	280
ASCL5	Q3KRG4	Q3KRG4	276
ASCL5	H2AL3	A0A3B3IU63	273

IntAct

Human interaction partners of ASCL5 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

2 partners by confidence:

Partner	Interaction type	MIscore	Records
H1-2	physical association	0.400	1
H1-5	physical association	0.400	1

Disease & clinical

Genetic variants

Variant evidence for ASCL5: 2 ClinVar records (1 pathogenic / likely pathogenic); 1 GWAS association. Per-variant detail is on Sugi Variant.

ClinVar

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

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

Top pathogenic / likely-pathogenic (1)

Showing all 1 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
3358881	NM_001270601.2(ASCL5):c.274G>A (p.Glu92Lys)	Likely pathogenic	criteria provided, single submitter	2

Per-variant reference — Sugi Variant

Explore ASCL5’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 20 predictions of 133):

Position(s)	Effect	Δscore	Sites
1:201127082–201127083	donor_loss	0.9800	6
1:201119367	donor_gain	0.9700
1:201127056	donor_gain	0.9700
1:201127115	donor_gain	0.9700
1:201115448	acceptor_gain	0.9600
1:201115878–201115879	acceptor_loss	0.9100	6
1:201127081	donor_loss	0.7400
1:201127084	donor_loss	0.7100
1:201127098	donor_gain	0.6900
1:201127084	donor_gain	0.6600

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Disease associations

OMIM: gene MIM:620809 | disease phenotypes:

HPO phenotypes

2 phenotypes (HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000164	Abnormality of the dentition

GWAS associations

1 associations:

Study	Trait	p-value
GCST005389_1	Tooth agenesis	2e-16

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.