VAX1

Summary

VAX1 (ventral anterior homeobox 1, HGNC:12660) is a protein-coding gene on chromosome 10q25.3, encoding Ventral anterior homeobox 1 (Q5SQQ9). Transcription factor that may function in dorsoventral specification of the forebrain.

This gene encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates. Genes of this family are involved in the regulation of body development and morphogenesis. The most conserved genes, called HOX genes are found in special gene clusters. This gene belongs to the VAX subfamily and lies in the vicinity of the EMX homeobox gene family. Another member of VAX family is located on chromosome 2. The encoded protein may play an important role in the development of anterior ventral forebrain and visual system. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 11023 — RefSeq curated summary.

At a glance

• Gene–disease (curated): microphthalmia, syndromic 11 (Limited, GenCC)
• GWAS associations: 7
• Clinical variants (ClinVar): 83 total — 1 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 9
• MANE Select transcript: NM_001112704

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12660
Approved symbol	VAX1
Name	ventral anterior homeobox 1
Location	10q25.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000148704
Ensembl biotype	protein_coding
OMIM	604294
Entrez	11023

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000277905, ENST00000369206

RefSeq mRNA: 2 — MANE Select: NM_001112704 NM_001112704, NM_199131

CCDS: CCDS44483, CCDS7597

Canonical transcript exons

ENST00000369206 — 3 exons

Exon	Start	End
ENSE00001449099	117133290	117134583
ENSE00002523041	117136472	117136659
ENSE00003623939	117137816	117138270

Expression profiles

Bgee: expression breadth broad, 38 present calls, max score 92.82.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.7918 / max 102.7187, expressed in 174 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
111593	0.3338	86
111590	0.1298	70
111589	0.0726	35
111591	0.0711	42
111592	0.0695	31
111594	0.0542	12
111588	0.0510	25
111595	0.0098	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.82	gold quality
caudate nucleus	UBERON:0001873	70.70	gold quality
nucleus accumbens	UBERON:0001882	69.15	gold quality
putamen	UBERON:0001874	68.08	gold quality
prefrontal cortex	UBERON:0000451	63.52	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	61.86	gold quality
hypothalamus	UBERON:0001898	61.47	gold quality
frontal cortex	UBERON:0001870	60.29	gold quality
Brodmann (1909) area 9	UBERON:0013540	59.31	gold quality
anterior cingulate cortex	UBERON:0009835	57.77	gold quality
cerebral cortex	UBERON:0000956	57.69	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	57.19	gold quality
superior frontal gyrus	UBERON:0002661	57.14	gold quality
primary visual cortex	UBERON:0002436	56.23	gold quality
right frontal lobe	UBERON:0002810	55.67	gold quality
brain	UBERON:0000955	53.26	gold quality
temporal lobe	UBERON:0001871	53.20	gold quality
amygdala	UBERON:0001876	53.07	gold quality
Ammon’s horn	UBERON:0001954	52.96	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	51.88	gold quality
ventricular zone	UBERON:0003053	49.77	gold quality
ganglionic eminence	UBERON:0004023	47.28	gold quality
substantia nigra	UBERON:0002038	46.62	gold quality
cortical plate	UBERON:0005343	43.79	silver quality
adenohypophysis	UBERON:0002196	43.45	gold quality
sural nerve	UBERON:0015488	42.24	gold quality
colonic epithelium	UBERON:0000397	41.33	gold quality
skeletal muscle tissue	UBERON:0001134	40.67	gold quality
bone marrow cell	CL:0002092	40.03	gold quality
muscle tissue	UBERON:0002385	37.69	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.46

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
PAX6	Repression

JASPAR motifs

Motif	Name	Family
MA0722.1	VAX1	NK
MA0722.2	VAX1	NK

JASPAR matrix evidence (PMIDs): PMID:18585360

miRNA regulators (miRDB)

29 targeting VAX1, 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-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-6733-3P	99.54	67.80	1281
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-143-3P	99.49	69.05	1457
HSA-MIR-6088	99.29	68.45	1284
HSA-MIR-6803-5P	99.19	63.90	1026
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-8070	99.07	69.30	1303
HSA-MIR-374A-3P	98.87	67.82	1531
HSA-MIR-197-3P	98.09	69.23	1004
HSA-MIR-18B-3P	98.05	65.55	595
HSA-MIR-6847-5P	97.93	66.74	1808
HSA-MIR-10526-3P	97.86	64.97	1342
HSA-MIR-1914-5P	97.83	66.21	807
HSA-MIR-5571-3P	97.80	66.07	640
HSA-MIR-625-3P	97.32	66.55	554
HSA-MIR-4653-3P	96.26	67.03	725
HSA-MIR-3157-3P	95.86	67.08	454
HSA-MIR-4787-5P	89.08	66.18	88

Literature-anchored findings (GeneRIF, showing 11)

• This is the first description of a patient with a VAX1 mutation and establishes VAX1 as a new causative gene for anophthalmia/microphthalmia (A/M) in humans. (PMID:22095910)
• The data do not support the hypothesis that highly penetrant rare variants in VAX1 are a cause of nonsyndromic cleft lip with or without cleft palate. (PMID:23081944)
• Our study replicated previous GWAS findings for markers in VAX1 in the Asian population, and identified rare variants in PAX7 and VAX1 that may contribute to the etiology of CL(P). (PMID:23463464)
• VAX1 rs10787760, rs6585429 and rs1871345 polymorphisms may be involved in nonsyndromic cleft lip with or without cleft palate in Brazilian patients, but there is no association with polymorphisms in FGF12, VCL, or CX43 (PMID:23679094)
• rs4752028 weakly associated with nonsyndromic cleft lip with or without cleft palate in northern Chinese Han population (PMID:28383424)
• Our study first revealed VAX1 gene could contribute to the etiology of NSCL/P and have a paternal-special transmission in Western Han Chinese. Additionally, the study also implied that rs7078160 might be associated with NSCLP. (PMID:30048854)
• This is the first study to find a relationship between these two loci on 10q25 (rs4752028 and rs7078160) and Nonsyndromic Orofacial Cleft in a population with high levels of consanguinity. (PMID:30633559)
• The risk of nonsyndromic cleft lip with or without cleft palate and Vax1 rs7078160 polymorphisms in southern Han Chinese. (PMID:33132092)
• Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis. (PMID:35075162)
• Target sequencing reveals the association between variants in VAX1 and NSCL/P in Chinese population. (PMID:35419918)
• The potential up-regulation risk of 3’ UTR SNP (rs10787760 G > A) for the VAX1 gene is associated with NSCLP in the northwest Chinese population. (PMID:38608796)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	vax1	ENSDARG00000021916
mus_musculus	Vax1	ENSMUSG00000006270
rattus_norvegicus	Vax1	ENSRNOG00000008824
drosophila_melanogaster	lms	FBGN0034520

Paralogs (3): VAX2 (ENSG00000116035), EMX1 (ENSG00000135638), EMX2 (ENSG00000170370)

Protein

Protein identifiers

Ventral anterior homeobox 1 — Q5SQQ9 (reviewed: Q5SQQ9)

All UniProt accessions (1): Q5SQQ9

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor that may function in dorsoventral specification of the forebrain. Required for axon guidance and major tract formation in the developing forebrain. May contribute to the differentiation of the neuroretina, pigmented epithelium and optic stalk.

Subcellular location. Nucleus.

Disease relevance. Microphthalmia, syndromic, 11 (MCOPS11) [MIM:614402] A rare clinical entity including as main characteristics microphthalmia and small optic nerves, cleft lip and palate, absence of corpus callosum, hippocampal malformations, and absence of the pineal gland. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the EMX homeobox family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5SQQ9-1	1	yes
Q5SQQ9-2	2

RefSeq proteins (2): NP_001106175, NP_954582 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000047	HTH_motif	Conserved_site
IPR001356	HD	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017970	Homeobox_CS	Conserved_site
IPR050877	EMX-VAX-Noto_Homeobox_TFs	Family

Pfam: PF00046

UniProt features (9 total): region of interest 3, compositionally biased region 2, chain 1, DNA-binding region 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5SQQ9-F1	65.77	0.23

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 183 (showing top): GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GOBP_MUSCLE_TISSUE_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, GGGNRMNNYCAT_UNKNOWN, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, YY1_Q6, GOBP_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_NEURAL_PRECURSOR_CELL_PROLIFERATION, TCF4_Q5, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, FREAC3_01, BRN2_01, GATA6_01

GO Biological Process (17): neuron migration (GO:0001764), regulation of transcription by RNA polymerase II (GO:0006357), neuroblast proliferation (GO:0007405), negative regulation of neuroblast proliferation (GO:0007406), axon guidance (GO:0007411), central nervous system development (GO:0007417), brain development (GO:0007420), neuron differentiation (GO:0030182), skeletal muscle cell differentiation (GO:0035914), camera-type eye development (GO:0043010), astrocyte differentiation (GO:0048708), roof of mouth development (GO:0060021), neuroepithelial cell differentiation (GO:0060563), negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355), nervous system development (GO:0007399), glial cell differentiation (GO:0010001)

GO Molecular Function (9): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), chromatin DNA binding (GO:0031490), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	4
generation of neurons	3
cell differentiation	3
regulation of DNA-templated transcription	2
transcription by RNA polymerase II	2
system development	2
central nervous system development	2
regulation of transcription by RNA polymerase II	2
cell migration	1
neural precursor cell proliferation	1
neuroblast proliferation	1
negative regulation of neurogenesis	1
regulation of neuroblast proliferation	1
negative regulation of neural precursor cell proliferation	1
axonogenesis	1
neuron projection guidance	1
nervous system development	1
animal organ development	1
head development	1
skeletal muscle tissue development	1
eye development	1
glial cell differentiation	1
anatomical structure development	1
columnar/cuboidal epithelial cell differentiation	1
negative regulation of DNA-templated transcription	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
gliogenesis	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
intronic transcription regulatory region sequence-specific DNA binding	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
DNA binding	1
chromatin binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1

Protein interactions and networks

STRING

818 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
VAX1	ZNF462	Q96JM2	898
VAX1	ASXL2	Q76L83	825
VAX1	IRF6	O14896	781
VAX1	SIX3	O95343	588
VAX1	FOXE1	O00358	549
VAX1	PAX2	Q02962	545
VAX1	ABCA4	P78363	541
VAX1	SIX6	O95475	540
VAX1	MAFB	Q9Y5Q3	513
VAX1	ARHGAP29	Q52LW3	505
VAX1	NTN1	O95631	480
VAX1	SHH	Q15465	464
VAX1	ATOH7	Q8N100	453
VAX1	SHTN1	A0MZ66	435
VAX1	LHX2	P50458	421

IntAct

3 interactions, top by confidence:

A	B	Type	Score
VAX1	H1-5	psi-mi:“MI:0915”(physical association)	0.400
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350

BioGRID (16): VAX1 (Two-hybrid), VAX1 (Two-hybrid), VAX1 (Two-hybrid), VAX1 (Two-hybrid), VAX1 (Two-hybrid), VAX1 (Two-hybrid), VAX1 (Two-hybrid), VAX1 (Two-hybrid), VAX1 (Two-hybrid), DVL3 (Two-hybrid), MLLT3 (Two-hybrid), POLR3C (Two-hybrid), ESRRG (Two-hybrid), SPANXN2 (Two-hybrid), VAX1 (Proximity Label-MS)

ESM2 similar proteins: A0A8V0YY16, A0JPN1, A7MB54, A8MTJ6, O35762, O42115, O57601, O88181, O95096, P09065, P23683, P28356, P31311, P31315, P32443, P39020, P42581, P42586, P43697, P48031, P49640, P50222, P50476, P52951, P52954, P52955, P78426, P81067, P81068, P97334, Q14549, Q14774, Q1KKY1, Q1XID0, Q2NKI2, Q2VL76, Q2VL80, Q4V5A3, Q5SQQ9, Q60554

Diamond homologs: A2X7U1, A2X980, A2YR02, A2ZAI7, A3BPF2, A9ZPC9, G5EE18, O93528, P09075, P09076, P14150, P34326, P46607, P46897, Q00400, Q01IK0, Q04896, Q0J9X2, Q0WV12, Q2NKI2, Q336P2, Q5JMF3, Q5SQQ9, Q5ZAY0, Q651Z5, Q69T58, Q6EPF0, Q6H6S3, Q6YWR4, Q6ZAR0, Q707Y6, Q7XUJ5, Q7Y0V7, Q7Y0V9, Q801E0, Q801E1, Q8L7H4, Q8RWU4, Q93V99, Q94C37

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	56
Likely benign	17
Benign	6

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
36954	NM_001112704.2(VAX1):c.454C>A (p.Arg152Ser)	Pathogenic
1710333	NM_001112704.2(VAX1):c.212del (p.Pro71fs)	Likely pathogenic

SpliceAI

615 predictions. Top by Δscore:

Variant	Effect	Δscore
10:117136467:GGTAC:G	donor_loss	1.0000
10:117136468:GTAC:G	donor_loss	1.0000
10:117136469:TA:T	donor_loss	1.0000
10:117136470:AC:A	donor_loss	1.0000
10:117136471:C:CA	donor_loss	1.0000
10:117136531:A:AC	donor_gain	1.0000
10:117136532:C:CC	donor_gain	1.0000
10:117136657:CAT:C	acceptor_gain	1.0000
10:117136660:C:CC	acceptor_gain	1.0000
10:117137868:A:AC	donor_gain	1.0000
10:117137869:C:CC	donor_gain	1.0000
10:117134584:CTGCG:C	acceptor_loss	0.9900
10:117134585:T:G	acceptor_loss	0.9900
10:117134592:CGGGG:C	acceptor_gain	0.9900
10:117134596:G:C	acceptor_gain	0.9900
10:117134596:G:GC	acceptor_gain	0.9900
10:117134599:C:CT	acceptor_gain	0.9900
10:117134600:G:T	acceptor_gain	0.9900
10:117134608:T:C	acceptor_gain	0.9900
10:117134608:T:TC	acceptor_gain	0.9900
10:117136466:GGGTA:G	donor_loss	0.9900
10:117136655:GGCAT:G	acceptor_gain	0.9900
10:117136656:GCAT:G	acceptor_gain	0.9900
10:117136656:GCATC:G	acceptor_gain	0.9900
10:117136657:CATC:C	acceptor_gain	0.9900
10:117136657:CATCT:C	acceptor_gain	0.9900
10:117136658:AT:A	acceptor_gain	0.9900
10:117136658:ATC:A	acceptor_gain	0.9900
10:117136659:TC:T	acceptor_gain	0.9900
10:117136660:CTG:C	acceptor_gain	0.9900

AlphaMissense

2102 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:117134065:G:C	F316L	1.000
10:117134065:G:T	F316L	1.000
10:117134067:A:G	F316L	1.000
10:117134542:C:A	K157N	1.000
10:117134542:C:G	K157N	1.000
10:117134544:T:C	K157E	1.000
10:117134545:C:A	K156N	1.000
10:117134545:C:G	K156N	1.000
10:117134547:T:C	K156E	1.000
10:117134549:T:G	Q155P	1.000
10:117134551:C:A	K154N	1.000
10:117134551:C:G	K154N	1.000
10:117134552:T:A	K154M	1.000
10:117134552:T:G	K154T	1.000
10:117134553:T:C	K154E	1.000
10:117134553:T:G	K154Q	1.000
10:117134558:C:A	R152L	1.000
10:117134558:C:G	R152P	1.000
10:117134558:C:T	R152H	1.000
10:117134559:G:A	R152C	1.000
10:117134559:G:C	R152G	1.000
10:117134559:G:T	R152S	1.000
10:117134561:C:A	R151L	1.000
10:117134561:C:G	R151P	1.000
10:117134562:G:A	R151W	1.000
10:117134562:G:C	R151G	1.000
10:117134563:G:C	N150K	1.000
10:117134563:G:T	N150K	1.000
10:117134564:T:A	N150I	1.000
10:117134564:T:C	N150S	1.000

dbSNP variants (sampled 300 via entrez): RS1000339393 (10:117139911 C>A), RS1000372082 (10:117139550 G>A,C), RS1000384346 (10:117135313 C>T), RS1000879724 (10:117135070 C>A,T), RS1001353615 (10:117134799 C>T), RS1001388995 (10:117133237 A>G), RS1001445477 (10:117136056 A>T), RS1001617003 (10:117139015 C>T), RS1002807729 (10:117129717 C>A,G), RS1002886027 (10:117137670 GC>G), RS1002919253 (10:117130130 A>G), RS1002960246 (10:117137140 C>G,T), RS1003163539 (10:117137468 C>T), RS1003186312 (10:117131654 G>A), RS1003368735 (10:117137409 G>C,T)

Disease associations

OMIM: gene MIM:604294 | disease phenotypes: MIM:614402

GenCC curated gene-disease

Disease	Classification	Inheritance
microphthalmia, syndromic 11	Limited	Autosomal recessive

Mondo (2): microphthalmia, syndromic 11 (MONDO:0013734), microphthalmia (MONDO:0021129)

Orphanet (0):

HPO phenotypes

9 total (9 of 9 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000175	Cleft palate
HP:0000204	Cleft upper lip
HP:0000568	Microphthalmia
HP:0001263	Global developmental delay
HP:0001274	Agenesis of corpus callosum
HP:0003577	Congenital onset
HP:0012687	Agenesis of pineal gland
HP:0034396	Hippocampal malrotation

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST000547_5	Orofacial clefts	2.000000e-08
GCST002811_2	Nonsyndromic cleft lip with or without cleft palate	3.000000e-10
GCST004166_16	Nonsyndromic cleft lip with cleft palate	7.000000e-13
GCST005951_66	Body mass index	4.000000e-08
GCST009357_6	Nonsyndromic cleft lip	3.000000e-10
GCST010703_309	Brain morphology (MOSTest)	2.000000e-25
GCST90000050_49	Age at first birth	1.000000e-11

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0003959	cleft lip
EFO:0004340	body mass index
EFO:0004346	neuroimaging measurement
EFO:0009101	age at first birth measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008850	Microphthalmos	C11.250.566; C16.131.384.666

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, affects methylation	1
butyraldehyde	increases expression	1
tetrabromobisphenol A	increases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Fulvestrant	affects cotreatment, affects methylation	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Asbestos, Serpentine	decreases methylation	1
Asbestos, Crocidolite	decreases methylation	1
Asbestos, Amosite	decreases methylation	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A7T0	SEES3-1V human VAX1, clone1	Embryonic stem cell	Male
CVCL_A7T1	SEES3-1V human VAX1, clone2	Embryonic stem cell	Male
CVCL_A7T2	SEES3-1V human VAX1, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01778543	Not specified	RECRUITING	Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)
NCT03748732	Not specified	UNKNOWN	Extensive Circumferential Partial Thickness Sclerectomy in Nanophthalmic Eyes
NCT04759560	Not specified	UNKNOWN	Biometric Characteristics of the Eye With Microcornea/Microphthalmia and Congenital Cataract Before And After Cataract Extraction
NCT05954403	Not specified	RECRUITING	National Cohort on Congenital Defects of the Eye
NCT06293560	Not specified	RECRUITING	Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children