HES7

Summary

HES7 (hes family bHLH transcription factor 7, HGNC:15977) is a protein-coding gene on chromosome 17p13.1, encoding Transcription factor HES-7 (Q9BYE0). Transcriptional repressor.

This gene encodes a member of the hairy and enhancer of split family of bHLH transcription factors. The mouse ortholog of this gene is regulated by Notch signaling. The protein functions as a transcriptional repressor, and is implicated in correct patterning of the axial skeleton. A mutation in this gene has been shown to result in spondylocostal dysostosis. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 84667 — RefSeq curated summary.

At a glance

• Gene–disease (curated): spondylocostal dysostosis 4, autosomal recessive (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 146 total — 3 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 62
• MANE Select transcript: NM_001165967

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15977
Approved symbol	HES7
Name	hes family bHLH transcription factor 7
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Aliases	bHLHb37
Ensembl gene	ENSG00000179111
Ensembl biotype	protein_coding
OMIM	608059
Entrez	84667

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000317814, ENST00000541682, ENST00000577735

RefSeq mRNA: 2 — MANE Select: NM_001165967 NM_001165967, NM_032580

CCDS: CCDS42258, CCDS54085

Canonical transcript exons

ENST00000541682 — 4 exons

Exon	Start	End
ENSE00001237988	8122343	8122430
ENSE00001238000	8123031	8123126
ENSE00002236422	8120592	8122037
ENSE00003843836	8124043	8124106

Expression profiles

Bgee: expression breadth ubiquitous, 142 present calls, max score 75.62.

FANTOM5 (CAGE): breadth broad, TPM avg 1.4905 / max 84.1470, expressed in 332 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164361	1.4905	332

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	75.62	gold quality
right hemisphere of cerebellum	UBERON:0014890	74.79	gold quality
upper arm skin	UBERON:0004263	74.64	gold quality
cerebellar hemisphere	UBERON:0002245	73.91	gold quality
cerebellar cortex	UBERON:0002129	73.56	gold quality
cerebellum	UBERON:0002037	72.01	gold quality
stromal cell of endometrium	CL:0002255	68.80	gold quality
apex of heart	UBERON:0002098	66.53	gold quality
parotid gland	UBERON:0001831	65.13	gold quality
right frontal lobe	UBERON:0002810	64.95	gold quality
kidney epithelium	UBERON:0004819	64.60	gold quality
tibialis anterior	UBERON:0001385	63.82	silver quality
lower esophagus mucosa	UBERON:0035834	63.80	gold quality
ganglionic eminence	UBERON:0004023	62.55	gold quality
Brodmann (1909) area 9	UBERON:0013540	62.43	gold quality
nasal cavity epithelium	UBERON:0005384	62.34	gold quality
anterior cingulate cortex	UBERON:0009835	62.27	gold quality
pancreatic ductal cell	CL:0002079	61.75	silver quality
ventricular zone	UBERON:0003053	61.58	gold quality
jejunal mucosa	UBERON:0000399	61.26	gold quality
palpebral conjunctiva	UBERON:0001812	60.31	gold quality
tibial nerve	UBERON:0001323	60.20	gold quality
decidua	UBERON:0002450	60.19	gold quality
heart left ventricle	UBERON:0002084	60.12	gold quality
cardiac ventricle	UBERON:0002082	60.00	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	59.93	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	59.74	gold quality
tendon of biceps brachii	UBERON:0008188	59.64	gold quality
seminal vesicle	UBERON:0000998	59.38	gold quality
right atrium auricular region	UBERON:0006631	59.36	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.63

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

3 targets.

Target	Regulation
NOTCH1
SLU7
SPRY4	Repression

JASPAR motifs

Motif	Name	Family
MA0822.1	HES7	Hairy-related factors

JASPAR matrix evidence (PMIDs): PMID:16342160

Upstream regulators (CollecTRI, top): CTNNB1, LEF1, NOTCH1, RBPJ, TBX6

miRNA regulators (miRDB)

29 targeting HES7, 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-7110-3P	100.00	73.18	2486
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-3156-3P	99.76	66.72	939
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-1260A	99.61	66.67	1098
HSA-MIR-1260B	99.61	66.67	1098
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-18A-3P	99.56	65.68	1092
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-8052	99.17	65.01	719
HSA-MIR-4260	98.78	65.37	848
HSA-MIR-423-5P	98.69	67.48	1522
HSA-MIR-3184-5P	98.56	67.13	1491
HSA-MIR-5581-3P	98.55	70.31	1161
HSA-MIR-4290	98.51	65.17	907
HSA-MIR-6784-3P	98.39	64.88	662
HSA-MIR-6862-3P	97.92	64.86	531
HSA-MIR-7113-5P	97.88	67.33	1735
HSA-MIR-6765-3P	97.83	64.59	1165
HSA-MIR-1913	97.07	66.20	1417
HSA-MIR-3192-5P	96.98	65.76	1926
HSA-MIR-5009-5P	94.82	63.89	775
HSA-MIR-8058	94.76	63.41	632
HSA-MIR-6753-5P	94.70	64.08	470
HSA-MIR-1298-3P	94.05	64.84	620

Literature-anchored findings (GeneRIF, showing 6)

• R25W missense mutation of HES7 is causative of Spondylocostal dysostosis. (PMID:18775957)
• Two new missense mutations in HES7 in a family with spondylocostal dysostosis. (PMID:20087400)
• MESP2, HES7 and DUSP6 genes may not be involved in the etiopathogenesis of sporadic and non-syndromic CS in Chinese Han population. (PMID:22744456)
• mutation of HES7 is uniquely associated with defects in vertebral, heart and neural tube formation, and this observation will help provide a discriminatory diagnostic guide in patients with SCD, as well as inform molecular genetic testing. (PMID:23897666)
• an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation (PMID:25928698)
• Species-specific segmentation clock periods are due to differential biochemical reaction speeds. (PMID:32943519)

Cross-species orthologs

13 orthologs

Organism	Symbol	Gene ID
danio_rerio	her11	ENSDARG00000002707
danio_rerio	her1	ENSDARG00000014722
mus_musculus	Hes7	ENSMUSG00000023781
rattus_norvegicus	Hes7	ENSRNOG00000007391
drosophila_melanogaster	E(spl)m8-HLH	FBGN0000591
drosophila_melanogaster	E(spl)m3-HLH	FBGN0002609
drosophila_melanogaster	E(spl)m5-HLH	FBGN0002631
drosophila_melanogaster	E(spl)m7-HLH	FBGN0002633
drosophila_melanogaster	E(spl)mbeta-HLH	FBGN0002733
drosophila_melanogaster	E(spl)mdelta-HLH	FBGN0002734
drosophila_melanogaster	E(spl)mgamma-HLH	FBGN0002735
drosophila_melanogaster	Hesr	FBGN0030899
drosophila_melanogaster	cwo	FBGN0259938

Paralogs (12): HES2 (ENSG00000069812), HES1 (ENSG00000114315), BHLHE41 (ENSG00000123095), BHLHE40 (ENSG00000134107), HEY2 (ENSG00000135547), HES6 (ENSG00000144485), HEYL (ENSG00000163909), HEY1 (ENSG00000164683), HES3 (ENSG00000173673), HELT (ENSG00000187821), HES4 (ENSG00000188290), HES5 (ENSG00000197921)

Protein

Protein identifiers

Transcription factor HES-7 — Q9BYE0 (reviewed: Q9BYE0)

Alternative names: Class B basic helix-loop-helix protein 37, Hairy and enhancer of split 7, bHLH factor Hes7

All UniProt accessions (2): Q9BYE0, J3KSH6

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional repressor. Represses transcription from both N box- and E box-containing promoters. May with HES1, cooperatively regulate somite formation in the presomitic mesoderm (PSM). May function as a segmentation clock, which is essential for coordinated somite segmentation.

Subunit / interactions. Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family.

Subcellular location. Nucleus.

Disease relevance. Spondylocostal dysostosis 4, autosomal recessive (SCDO4) [MIM:613686] A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. Has a particular type of basic domain which includes a helix-interrupting proline. The C-terminal WRPW motif is a transcriptional repression motif which is necessary for interaction with Groucho/TLE family members, transcriptional corepressors recruited to specific target DNA by Hairy-related proteins.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BYE0-1	1	yes
Q9BYE0-2	2

RefSeq proteins (2): NP_001159439, NP_115969 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003650	Orange_dom	Domain
IPR011598	bHLH_dom	Domain
IPR032644	HES-7_bHLH-O	Domain
IPR036638	HLH_DNA-bd_sf	Homologous_superfamily
IPR050370	HES_HEY	Family

Pfam: PF00010

UniProt features (14 total): sequence variant 3, sequence conflict 3, domain 2, compositionally biased region 2, chain 1, region of interest 1, short sequence motif 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BYE0-F1	74.31	0.39

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9824272	Somitogenesis

MSigDB gene sets: 212 (showing top): FXR_IR1_Q6, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, AREB6_01, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GGGTGGRR_PAX4_03, RICKMAN_METASTASIS_DN, GOBP_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION, GOBP_SOMITOGENESIS, GOBP_SEGMENTATION, AACTTT_UNKNOWN, VDR_Q3

GO Biological Process (12): negative regulation of transcription by RNA polymerase II (GO:0000122), skeletal system development (GO:0001501), somitogenesis (GO:0001756), regulation of transcription by RNA polymerase II (GO:0006357), Notch signaling pathway (GO:0007219), mesoderm development (GO:0007498), anterior/posterior pattern specification (GO:0009952), post-anal tail morphogenesis (GO:0036342), rhythmic process (GO:0048511), regulation of neurogenesis (GO:0050767), regulation of DNA-templated transcription (GO:0006355), negative regulation of DNA-templated transcription (GO:0045892)

GO Molecular Function (7): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA binding (GO:0003677), protein dimerization activity (GO:0046983), sequence-specific double-stranded DNA binding (GO:1990837), RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), protein binding (GO:0005515)

GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Formation of paraxial mesoderm	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of transcription by RNA polymerase II	2
transcription by RNA polymerase II	2
regulation of DNA-templated transcription	2
DNA-templated transcription	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
negative regulation of DNA-templated transcription	1
system development	1
anterior/posterior pattern specification	1
segmentation	1
chordate embryonic development	1
anatomical structure formation involved in morphogenesis	1
somite development	1
cell surface receptor signaling pathway	1
tissue development	1
regionalization	1
anatomical structure morphogenesis	1
biological_process	1
neurogenesis	1
regulation of nervous system development	1
regulation of cell development	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
negative regulation of RNA biosynthetic process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
nucleic acid binding	1
protein binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
transcription cis-regulatory region binding	1
binding	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

336 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HES7	MESP2	Q0VG99	564
HES7	LFNG	Q8NES3	509
HES7	ZNF33B	Q06732	372
HES7	TBX6	O95947	369
HES7	VRTN	Q9H8Y1	364
HES7	HOXB6	P09068	335
HES7	ZBTB4	Q9P1Z0	323
HES7	RIPPLY2	Q5TAB7	320
HES7	DLL3	Q9NYJ7	304
HES7	FERD3L	Q96RJ6	299
HES7	GOLT1B	Q9Y3E0	292
HES7	MSGN1	A6NI15	280
HES7	HOXB9	P17482	276
HES7	ASCL4	Q6XD76	276
HES7	DLL1	O00548	272

IntAct

19 interactions, top by confidence:

A	B	Type	Score
QARS1	HES7	psi-mi:“MI:0915”(physical association)	0.560
PIH1D2	HES7	psi-mi:“MI:0915”(physical association)	0.560
TCEANC	HES7	psi-mi:“MI:0915”(physical association)	0.560
	HES7	psi-mi:“MI:0915”(physical association)	0.560
TCEA2	HES7	psi-mi:“MI:0915”(physical association)	0.560
PRPF31	HES7	psi-mi:“MI:0915”(physical association)	0.560
QARS1	HES7	psi-mi:“MI:0915”(physical association)	0.000
PIH1D2	HES7	psi-mi:“MI:0915”(physical association)	0.000
PRPF31	HES7	psi-mi:“MI:0915”(physical association)	0.000
TCEANC	HES7	psi-mi:“MI:0915”(physical association)	0.000
	HES7	psi-mi:“MI:0915”(physical association)	0.000
TCEA2	HES7	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (10): HES7 (Affinity Capture-MS), HES7 (Two-hybrid), HES7 (Two-hybrid), HES7 (Two-hybrid), HES7 (Two-hybrid), HES7 (Two-hybrid), HES7 (Two-hybrid), HES7 (Affinity Capture-RNA), HES7 (Affinity Capture-RNA), HES7 (Affinity Capture-RNA)

ESM2 similar proteins: A0A0U1RQS6, A0A7I2V3R4, A6NCS6, A6NEL2, A6NJG2, A6NLJ0, B2RU40, B8ZZ34, C9JH25, C9JVW0, D4A9R4, M0QZC1, P03971, P03972, P08353, P0CG20, P0DPE3, P36313, P37318, P37319, P56916, P79295, Q17QH7, Q1HCM0, Q2M3G4, Q2M3V2, Q5FWE3, Q5U2P6, Q5XJV6, Q6NZ36, Q6P1B3, Q6PE13, Q8BKT2, Q8BLS7, Q8IYJ0, Q8N4B5, Q8NBR0, Q8NCU7, Q95K74, Q96AC6

Diamond homologs: A0MLS5, A6NFD8, O00327, O14503, O35779, O54792, O57337, O61734, O88529, P13097, P14003, P29303, P35428, P35429, P70120, Q00P32, Q01069, Q03062, Q04666, Q14469, Q26263, Q28HA8, Q2KIN4, Q2NL18, Q3ZBG4, Q5PPM5, Q5R4T2, Q5RAI7, Q5TA89, Q66KK8, Q6IRB2, Q6PBD4, Q6QB00, Q6YGZ5, Q7KM13, Q7TS99, Q8AVU4, Q8AXV5, Q8AXV6, Q8BKT2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	3
Uncertain significance	77
Likely benign	48
Benign	9

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
30696	NM_001165967.2(HES7):c.73C>T (p.Arg25Trp)	Pathogenic
30697	NM_001165967.2(HES7):c.571G>T (p.Asp191Tyr)	Pathogenic
30698	NM_001165967.2(HES7):c.172A>G (p.Ile58Val)	Pathogenic
3255516	NM_001165967.2(HES7):c.113T>C (p.Leu38Pro)	Likely pathogenic
559880	NM_001165967.2(HES7):c.86A>G (p.Asn29Ser)	Likely pathogenic
91404	NM_001165967.2(HES7):c.400_409dup (p.Arg137fs)	Likely pathogenic

SpliceAI

821 predictions. Top by Δscore:

Variant	Effect	Δscore
17:8122367:C:CA	donor_gain	1.0000
17:8122429:TT:T	acceptor_gain	1.0000
17:8122431:C:CC	acceptor_gain	1.0000
17:8123026:CTGA:C	donor_loss	1.0000
17:8123027:TGAC:T	donor_loss	1.0000
17:8123028:GAC:G	donor_loss	1.0000
17:8123029:A:C	donor_loss	1.0000
17:8123030:CCT:C	donor_loss	1.0000
17:8123124:CAT:C	acceptor_gain	1.0000
17:8123125:AT:A	acceptor_gain	1.0000
17:8123126:TCT:T	acceptor_loss	1.0000
17:8123127:C:CC	acceptor_gain	1.0000
17:8123134:C:CT	acceptor_gain	1.0000
17:8123135:A:T	acceptor_gain	1.0000
17:8123138:G:T	acceptor_gain	1.0000
17:8122149:C:CT	acceptor_gain	0.9900
17:8122337:CTGTA:C	donor_loss	0.9900
17:8122338:TGTA:T	donor_loss	0.9900
17:8122339:GTAC:G	donor_loss	0.9900
17:8122340:TACCC:T	donor_loss	0.9900
17:8122341:A:T	donor_loss	0.9900
17:8122341:AC:A	donor_gain	0.9900
17:8122342:CC:C	donor_gain	0.9900
17:8122426:AGGTT:A	acceptor_gain	0.9900
17:8122427:GGTT:G	acceptor_gain	0.9900
17:8122428:GTT:G	acceptor_gain	0.9900
17:8122430:TC:T	acceptor_loss	0.9900
17:8122431:C:A	acceptor_loss	0.9900
17:8122438:C:CT	acceptor_gain	0.9900
17:8122439:G:T	acceptor_gain	0.9900

AlphaMissense

1447 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:8122393:A:G	L59S	1.000
17:8123086:A:G	I28T	1.000
17:8123106:C:A	E21D	1.000
17:8123106:C:G	E21D	1.000
17:8122393:A:C	L59W	0.999
17:8122396:A:C	I58R	0.999
17:8122396:A:G	I58T	0.999
17:8122396:A:T	I58K	0.999
17:8122404:T:A	K55N	0.999
17:8122404:T:G	K55N	0.999
17:8122405:T:A	K55I	0.999
17:8122406:T:G	K55Q	0.999
17:8122408:T:A	E54V	0.999
17:8123062:C:A	R36M	0.999
17:8123065:A:G	L35P	0.999
17:8123084:T:C	N29D	0.999
17:8123099:G:T	R24S	0.999
17:8123103:C:A	K22N	0.999
17:8123103:C:G	K22N	0.999
17:8123108:C:T	E21K	0.999
17:8123118:C:A	K17N	0.999
17:8123118:C:G	K17N	0.999
17:8122384:G:T	A62D	0.998
17:8122392:C:A	L59F	0.998
17:8122392:C:G	L59F	0.998
17:8122406:T:C	K55E	0.998
17:8122409:C:T	E54K	0.998
17:8122413:C:A	K52N	0.998
17:8122413:C:G	K52N	0.998
17:8123062:C:G	R36T	0.998

dbSNP variants (sampled 300 via entrez): RS1000057491 (17:8120313 C>G,T), RS1000092990 (17:8124339 A>G), RS1000429982 (17:8120372 C>G,T), RS1000501849 (17:8120838 C>A,T), RS1000698882 (17:8125712 C>G,T), RS1000745702 (17:8127670 G>A), RS1001109528 (17:8125481 G>A), RS1001485691 (17:8121639 G>A), RS1001497070 (17:8121485 T>C), RS1001748408 (17:8125857 T>C), RS1002094519 (17:8126097 C>G), RS1002167867 (17:8125673 C>A,T), RS1002339250 (17:8120937 C>A,T), RS1002695978 (17:8127267 G>A,T), RS1002819475 (17:8127610 G>A,T)

Disease associations

OMIM: gene MIM:608059 | disease phenotypes: MIM:613686, MIM:608681

GenCC curated gene-disease

Disease	Classification	Inheritance
spondylocostal dysostosis 4, autosomal recessive	Strong	Autosomal recessive
autosomal recessive spondylocostal dysostosis	Supportive	Autosomal recessive

Mondo (3): spondylocostal dysostosis 4, autosomal recessive (MONDO:0013366), spondylocostal dysostosis 2, autosomal recessive (MONDO:0012097), autosomal recessive spondylocostal dysostosis (MONDO:0010180)

Orphanet (1): Autosomal recessive spondylocostal dysostosis (Orphanet:2311)

HPO phenotypes

62 total (30 of 62 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000008	Abnormal morphology of female internal genitalia
HP:0000011	Neurogenic bladder
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000047	Hypospadias
HP:0000069	Abnormality of the ureter
HP:0000175	Cleft palate
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000269	Prominent occiput
HP:0000337	Broad forehead
HP:0000343	Long philtrum
HP:0000358	Posteriorly rotated ears
HP:0000463	Anteverted nares
HP:0000470	Short neck
HP:0000475	Broad neck
HP:0000767	Pectus excavatum
HP:0000772	Abnormal rib morphology
HP:0000776	Congenital diaphragmatic hernia
HP:0000902	Rib fusion
HP:0000921	Missing ribs
HP:0001249	Intellectual disability
HP:0001511	Intrauterine growth retardation
HP:0001537	Umbilical hernia
HP:0001591	Bell-shaped thorax
HP:0001651	Dextrocardia
HP:0001696	Situs inversus totalis
HP:0002025	Anal stenosis

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002647_119	Height	7.000000e-12

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C535781	Spondylocostal dysostosis, autosomal recessive (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
propionaldehyde	increases expression	1
bisphenol A	increases expression	1
beta-lapachone	increases expression	1
arsenite	increases methylation	1
butyraldehyde	increases expression	1
CGP 52608	increases reaction, affects binding	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, increases reaction, decreases reaction	1
Chir 99021	increases expression, increases reaction, decreases reaction	1
abrine	increases expression	1
licochalcone B	increases expression	1
jinfukang	increases expression	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	increases methylation	1
Cadmium	increases expression	1
Cisplatin	decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Phthalic Acids	increases methylation	1
Tretinoin	decreases reaction, increases expression, increases reaction	1
Valproic Acid	increases expression	1
1-Methyl-4-phenylpyridinium	increases expression	1
Aflatoxin B1	decreases methylation	1
Okadaic Acid	increases expression	1
p-Chloromercuribenzoic Acid	increases expression	1

Clinical trials (associated diseases)

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