GAS1

Summary

GAS1 (growth arrest specific 1, HGNC:4165) is a protein-coding gene on chromosome 9q21.33, encoding Growth arrest-specific protein 1 (P54826). Specific growth arrest protein involved in growth suppression.

Growth arrest-specific 1 plays a role in growth suppression. GAS1 blocks entry to S phase and prevents cycling of normal and transformed cells. Gas1 is a putative tumor suppressor gene.

Source: NCBI Gene 2619 — RefSeq curated summary.

At a glance

• Gene–disease (curated): holoprosencephaly (Limited, ClinGen)
• GWAS associations: 7
• Clinical variants (ClinVar): 135 total
• Phenotypes (HPO): 115
• MANE Select transcript: NM_002048

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4165
Approved symbol	GAS1
Name	growth arrest specific 1
Location	9q21.33
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000180447
Ensembl biotype	protein_coding
OMIM	139185
Entrez	2619

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000298743

RefSeq mRNA: 1 — MANE Select: NM_002048 NM_002048

CCDS: CCDS6674

Canonical transcript exons

ENST00000298743 — 1 exons

Exon	Start	End
ENSE00001468893	86944362	86947506

Expression profiles

Bgee: expression breadth ubiquitous, 276 present calls, max score 99.94.

FANTOM5 (CAGE): breadth broad, TPM avg 12.2774 / max 665.8413, expressed in 800 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
101224	11.6673	766
101225	0.4926	268
101223	0.1175	66

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
germinal epithelium of ovary	UBERON:0001304	99.94	gold quality
decidua	UBERON:0002450	99.81	gold quality
parietal pleura	UBERON:0002400	99.52	gold quality
pericardium	UBERON:0002407	99.40	gold quality
synovial joint	UBERON:0002217	99.26	gold quality
superficial temporal artery	UBERON:0001614	98.99	gold quality
renal glomerulus	UBERON:0000074	98.82	gold quality
adult organism	UBERON:0007023	98.80	gold quality
mammary duct	UBERON:0001765	98.71	gold quality
cauda epididymis	UBERON:0004360	98.71	gold quality
metanephric glomerulus	UBERON:0004736	98.65	gold quality
skin of hip	UBERON:0001554	98.59	gold quality
vena cava	UBERON:0004087	98.19	gold quality
epithelium of mammary gland	UBERON:0003244	98.13	gold quality
nipple	UBERON:0002030	98.01	gold quality
upper arm skin	UBERON:0004263	97.79	gold quality
caput epididymis	UBERON:0004358	97.47	gold quality
mucosa of paranasal sinus	UBERON:0005030	97.37	gold quality
pleura	UBERON:0000977	97.24	gold quality
cardiac muscle of right atrium	UBERON:0003379	97.20	gold quality
upper leg skin	UBERON:0004262	97.18	gold quality
corpus epididymis	UBERON:0004359	97.16	gold quality
hair follicle	UBERON:0002073	96.91	gold quality
trachea	UBERON:0003126	96.81	gold quality
saphenous vein	UBERON:0007318	96.78	gold quality
calcaneal tendon	UBERON:0003701	96.76	gold quality
urethra	UBERON:0000057	96.74	gold quality
choroid plexus epithelium	UBERON:0003911	96.70	gold quality
diaphragm	UBERON:0001103	96.69	gold quality
myometrium	UBERON:0001296	96.63	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-8530	yes	481.48
E-ANND-3	yes	23.80
E-MTAB-10290	no	257.02

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): DMTF1, MYC, STAT5A, TP53

miRNA regulators (miRDB)

69 targeting GAS1, 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-3163	100.00	77.23	8605
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-5582-3P	99.86	72.48	4221

Literature-anchored findings (GeneRIF, showing 26)

• Gas1 is related to the GDNF alpha receptors and regulates Ret signaling (PMID:16551639)
• This review considers the possible involvement of GAS1 in genetic diseases, stem cell renewal, and cancer growth through its cooperative activity with Hedgehog (HH) growth factor and the HH receptor. (PMID:17726382)
• Gas1 is a molecule involved in cell arrest that can induce apoptosis when over-expressed in different cell lines. (PMID:18394855)
• Gas1 has all the expected properties of a melanoma tumor suppressor: suppression of metastasis in a spontaneous metastasis assay, promotion of apoptosis following dissemination of cells to secondary sites, and down-regulation in human melanoma metastasis. (PMID:18981472)
• Results present evidence demonstrating that Gas1 exerts its effects inhibiting cell growth and inducing apoptosis of glioma cells in the absence of Shh. (PMID:19460624)
• Results suggest that GAS1 might be a target to overcome multidrug resistance and provide a novel approach to identifying candidate genes that suppress chemoresistance of gastric cancers. (PMID:19638344)
• GAS1 is preferentially expressed by human bulge cells, compared to differentiated hair follicle keratinocytes (PMID:20050020)
• GAS1 could be considered a candidate locus for one of the types of human holoprosencephaly. (PMID:20583177)
• Growth arrest-specific gene 1 contributes to predicting metastasis or recurrence in stage II and III colorectal cancer. (PMID:21111449)
• Gas1 is a novel APP-interacting protein involved in the control of APP maturation and processing. (PMID:21357679)
• we demonstrate that sequence variants in GAS1 can impair its physical interaction with SHH, suggesting a decrease in the SHH downstream signaling cascade as a pathogenic mechanism of disease. (PMID:21842183)
• Interference of endoplasmic reticulum to Golgi transport increased immature amyloid beta protein precursor accumulation upon Gas1 expression in lipid raft fractions. (PMID:21971401)
• GAS1 induced the activity of caspase-3 and resulting in apoptosis of the cells. (PMID:22311470)
• Growth arrest-specific gene 1 is downregulated and inhibits tumor growth in gastric cancer. (PMID:22846196)
• GAS1 is a novel endogenous inhibitor of glomerular mesangial cell proliferation. (PMID:23254899)
• This review summarizes the structure of Gas1 and molecular mechanism of action during embryonic development and cellular functions. (PMID:25429664)
• solutions structure and biophysical characterization of the multifaceted signalling effector protein growth arrest specific-1 (PMID:25888394)
• the synergistic effect of Gas1 inhibition and GDNF against glutamate-induced cell injury in human SH-SY5Y neuroblastoma cells, is reported. (PMID:26215053)
• These results demonstrated that miR-184 and the GAS1/Akt pathway may be a potential therapeutic target for intervertebral disc degeneration. (PMID:26805687)
• Studies establish Gas1 as a negative regulator in colorectal cancer. (PMID:27401611)
• WT1 modulates Akt/JNK signaling pathway mediated autophagy by controlling the expression of growth arrest-specific 1 (Gas1). (PMID:27453337)
• Downregulation of GAS1 is associated with clear cell renal cell carcinoma. (PMID:28184927)
• t is relevant to investigate the potential additive effect of the overexpression of GAS1 and PTEN on tumor growth. In particular, we employed secreted forms of both GAS1 (tGAS1) and PTEN (PTEN-LONG, or PTEN-L) and tested their combined effect on glioma cells. (PMID:29941984)
• This study has identified Gas1 as a novel factor and mechanism through which microglia arrest the growth of human brain tumor-initiating cells for anti-tumor property. (PMID:30327548)
• Gas1 Regulates Patterning of the Murine and Human Dentitions through Sonic Hedgehog. (PMID:34796774)
• TCF7L1 regulates colorectal cancer cell migration by repressing GAS1 expression. (PMID:38816533)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	gas1b	ENSDARG00000067984
danio_rerio	gas1a	ENSDARG00000077298
mus_musculus	Gas1	ENSMUSG00000052957
rattus_norvegicus	Gas1	ENSRNOG00000065398

Protein

Protein identifiers

Growth arrest-specific protein 1 — P54826 (reviewed: P54826)

All UniProt accessions (1): P54826

UniProt curated annotations — full annotation on UniProt →

Function. Specific growth arrest protein involved in growth suppression. Blocks entry to S phase. Prevents cycling of normal and transformed cells. Binds 20(S)-hydroxycholesterol (20(S)-OHC).

Subcellular location. Cell membrane.

RefSeq proteins (1): NP_002039* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016017	GDNF/GAS1	Domain
IPR039596	GAS1	Family

Pfam: PF02351

UniProt features (8 total): signal peptide 1, chain 1, propeptide 1, region of interest 1, compositionally biased region 1, lipid moiety-binding region 1, glycosylation site 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
7RHQ	ELECTRON MICROSCOPY	3.53

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P54826-F1	71.86	0.33

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): 318

Glycosylation sites (1): 117

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-5632681	Ligand-receptor interactions
R-HSA-5635838	Activation of SMO

MSigDB gene sets: 480 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, MODULE_52, BROWNE_HCMV_INFECTION_6HR_DN, GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, LUCAS_HNF4A_TARGETS_DN, KEGG_HEDGEHOG_SIGNALING_PATHWAY, PAL_PRMT5_TARGETS_UP, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GOBP_GROWTH, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, TOMLINS_PROSTATE_CANCER_DN, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN

GO Biological Process (9): regulation of smoothened signaling pathway (GO:0008589), negative regulation of protein processing (GO:0010955), cellular response to vascular endothelial growth factor stimulus (GO:0035924), regulation of apoptotic process (GO:0042981), cell fate commitment (GO:0045165), negative regulation of mitotic cell cycle (GO:0045930), developmental growth (GO:0048589), regulation of ER to Golgi vesicle-mediated transport (GO:0060628), regulation of cell cycle (GO:0051726)

GO Molecular Function (2): oxysterol binding (GO:0008142), protein binding (GO:0005515)

GO Cellular Component (3): plasma membrane (GO:0005886), membrane (GO:0016020), side of membrane (GO:0098552)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Hedgehog ‘on’ state	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
membrane	2
cellular anatomical structure	2
smoothened signaling pathway	1
regulation of signal transduction	1
protein processing	1
negative regulation of proteolysis	1
regulation of protein processing	1
negative regulation of protein maturation	1
cellular response to growth factor stimulus	1
apoptotic process	1
regulation of programmed cell death	1
cell differentiation	1
cellular developmental process	1
mitotic cell cycle	1
regulation of mitotic cell cycle	1
negative regulation of cell cycle	1
developmental process	1
growth	1
endoplasmic reticulum to Golgi vesicle-mediated transport	1
regulation of intracellular transport	1
regulation of vesicle-mediated transport	1
cell cycle	1
regulation of cellular process	1
sterol binding	1
binding	1
cell periphery	1
leaflet of membrane bilayer	1

Protein interactions and networks

STRING

1098 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GAS1	SHH	Q15465	992
GAS1	PTCH1	Q13635	983
GAS1	CDON	Q4KMG0	958
GAS1	GAS2	O43903	930
GAS1	BOC	Q9BWV1	814
GAS1	HHIP	Q96QV1	737
GAS1	ZIC2	O95409	727
GAS1	DHH	O43323	697
GAS1	DISP1	Q96F81	694
GAS1	IHH	Q14623	677
GAS1	SIX3	O95343	620
GAS1	RAB23	Q9ULC3	602
GAS1	SMO	Q99835	595
GAS1	GLI1	P08151	584
GAS1	GLI2	P10070	582

IntAct

8 interactions, top by confidence:

A	B	Type	Score
GAS1	RET	psi-mi:“MI:0407”(direct interaction)	0.440
GPC1	SNAP23	psi-mi:“MI:0915”(physical association)	0.400
GPC1	GANAB	psi-mi:“MI:0915”(physical association)	0.400
CERS2	VPS37C	psi-mi:“MI:0914”(association)	0.350
SLURP1	MANBA	psi-mi:“MI:0914”(association)	0.350
KRAS	IGKV2D-24	psi-mi:“MI:0914”(association)	0.350
KRAS	IGKV2D-29	psi-mi:“MI:0914”(association)	0.350

BioGRID (15): GAS1 (Two-hybrid), GAS1 (Affinity Capture-RNA), GAS1 (Affinity Capture-MS), GAS1 (Affinity Capture-MS), GAS1 (Affinity Capture-MS), GAS1 (Two-hybrid), GAS1 (Affinity Capture-MS), GAS1 (Proximity Label-MS), PTPRA (Reconstituted Complex), GAS1 (Proximity Label-MS), GAS1 (Proximity Label-MS), GAS1 (Proximity Label-MS), GAS1 (Proximity Label-MS), GAS1 (Proximity Label-MS), GAS1 (Affinity Capture-RNA)

ESM2 similar proteins: A4IIA2, B3F211, O75129, O94907, P01180, P08833, P10769, P12843, P13384, P15473, P16611, P17936, P18065, P19336, P20722, P20959, P21743, P21744, P22692, P24591, P24592, P24593, P24594, P24853, P24854, P34007, P35572, P47876, P47877, P47878, P47879, P47880, P49705, P51693, P54826, Q03157, Q05716, Q05717, Q05718, Q07079

Diamond homologs: P54826, Q01721

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
DMTF1	“down-regulates quantity by repression”	GAS1	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	93
Likely benign	31
Benign	9

Top pathogenic / likely-pathogenic (0)

SpliceAI

11 predictions. Top by Δscore:

Variant	Effect	Δscore
9:86947062:A:AC	donor_gain	0.8600
9:86947063:C:CC	donor_gain	0.8600
9:86946882:T:TA	donor_gain	0.4000
9:86947064:T:C	donor_gain	0.3300
9:86946974:T:TA	donor_gain	0.2900
9:86947145:G:A	donor_gain	0.2800
9:86947056:AGG:A	donor_gain	0.2400
9:86947058:G:A	donor_gain	0.2300
9:86947054:AGAGG:A	donor_gain	0.2200
9:86946578:A:AC	donor_gain	0.2000
9:86946579:C:CC	donor_gain	0.2000

AlphaMissense

2200 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:86946211:C:T	C190Y	1.000
9:86946433:A:G	L116P	1.000
9:86946633:C:A	W49C	1.000
9:86946633:C:G	W49C	1.000
9:86946052:C:G	C243S	0.999
9:86946053:A:G	C243R	0.999
9:86946053:A:T	C243S	0.999
9:86946072:C:A	K236N	0.999
9:86946072:C:G	K236N	0.999
9:86946084:G:C	C232W	0.999
9:86946085:C:A	C232F	0.999
9:86946085:C:G	C232S	0.999
9:86946085:C:T	C232Y	0.999
9:86946086:A:G	C232R	0.999
9:86946086:A:T	C232S	0.999
9:86946104:C:A	G226C	0.999
9:86946108:G:C	C224W	0.999
9:86946109:C:A	C224F	0.999
9:86946109:C:G	C224S	0.999
9:86946109:C:T	C224Y	0.999
9:86946110:A:G	C224R	0.999
9:86946110:A:T	C224S	0.999
9:86946114:G:C	C222W	0.999
9:86946115:C:A	C222F	0.999
9:86946115:C:T	C222Y	0.999
9:86946116:A:G	C222R	0.999
9:86946171:G:C	C203W	0.999
9:86946172:C:G	C203S	0.999
9:86946173:A:G	C203R	0.999
9:86946173:A:T	C203S	0.999

dbSNP variants (sampled 300 via entrez): RS1000854782 (9:86945757 A>C), RS1000871454 (9:86944777 C>A,T), RS1001746523 (9:86948866 C>T), RS1001770983 (9:86946308 G>GGCCGCCCGCGCC), RS1002275565 (9:86945338 T>C), RS1003168930 (9:86949390 C>T), RS1003410023 (9:86948933 G>A,C), RS1003690604 (9:86944076 G>A), RS1004186486 (9:86947174 C>T), RS1005038688 (9:86948953 T>C), RS1005191877 (9:86946272 G>A,C), RS1005982395 (9:86945250 T>C), RS1006156477 (9:86945525 G>A), RS1007414827 (9:86944187 G>T), RS1007459037 (9:86947093 G>T)

Disease associations

OMIM: gene MIM:139185 | disease phenotypes: MIM:236100

GenCC curated gene-disease

Disease	Classification	Inheritance
holoprosencephaly	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
holoprosencephaly	Limited	AD

Mondo (2): holoprosencephaly 1 (MONDO:0009349), holoprosencephaly (MONDO:0016296)

Orphanet (1): Holoprosencephaly (Orphanet:2162)

HPO phenotypes

115 total (30 of 115 shown, HPO-id order):

HPO	Term
HP:0000062	Ambiguous genitalia
HP:0000104	Renal agenesis
HP:0000119	Abnormality of the genitourinary system
HP:0000161	Median cleft upper lip
HP:0000175	Cleft palate
HP:0000193	Bifid uvula
HP:0000202	Orofacial cleft
HP:0000218	High palate
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000322	Short philtrum
HP:0000407	Sensorineural hearing impairment
HP:0000446	Narrow nasal bridge
HP:0000453	Choanal atresia
HP:0000457	Depressed nasal ridge
HP:0000463	Anteverted nares
HP:0000478	Abnormality of the eye
HP:0000486	Strabismus
HP:0000601	Hypotelorism
HP:0000612	Iris coloboma
HP:0000708	Atypical behavior
HP:0000716	Depression
HP:0000736	Short attention span
HP:0000737	Irritability
HP:0000739	Anxiety
HP:0000741	Apathy
HP:0000772	Abnormal rib morphology
HP:0000818	Abnormality of the endocrine system
HP:0000821	Hypothyroidism

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST001208_3	Insulin resistance/response	4.000000e-06
GCST004641_26	Borderline personality disorder	7.000000e-06
GCST006585_670	Blood protein levels	2.000000e-06
GCST006979_358	Heel bone mineral density	1.000000e-13
GCST008660_6	Lung function in never smokers (high FEV1 vs average FEV1)	3.000000e-07
GCST009723_79	Vertical cup-disc ratio (adjusted for vertical disc diameter)	8.000000e-07
GCST009724_18	Vertical cup-disc ratio (multi-trait analysis)	9.000000e-10

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density
EFO:0004314	forced expiratory volume
EFO:0006939	cup-to-disc ratio measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D016142	Holoprosencephaly	C05.660.207.410; C10.500.034.875; C16.131.077.410; C16.131.260.380; C16.131.621.207.410; C16.131.666.034.875; C16.320.180.380

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases expression, increases methylation	5
Cadmium Chloride	decreases expression, increases expression	4
Acetaminophen	decreases expression	3
Estradiol	affects cotreatment, decreases expression, increases expression, affects expression	3
Tobacco Smoke Pollution	decreases expression	3
mercuric bromide	decreases expression, affects cotreatment	2
entinostat	decreases expression, affects cotreatment	2
Arsenic	increases methylation, decreases expression, increases abundance	2
Benzo(a)pyrene	affects methylation, decreases expression	2
Formaldehyde	decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Silicon Dioxide	decreases expression	2
Smoke	decreases expression	2
Zidovudine	affects cotreatment, decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
Particulate Matter	affects cotreatment, decreases expression, increases abundance	2
methyleugenol	decreases expression	1
methylselenic acid	increases expression	1
sodium arsenate	decreases expression, increases abundance	1
2-butenal	decreases expression	1
sulforaphane	decreases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	affects cotreatment, decreases expression	1
tobacco tar	decreases expression, decreases reaction	1
diallyl disulfide	decreases expression, decreases reaction	1
lead chloride	decreases expression, affects cotreatment	1
hydroquinone	decreases expression	1
1-nitropyrene	decreases expression	1
cadmium sulfate	affects cotreatment, decreases expression	1
beta-methylcholine	affects expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00005016	Not specified	COMPLETED	Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopresencephaly
NCT00088426	Not specified	COMPLETED	Clinical and Genetic Studies on Holoprosencephaly
NCT00645645	Not specified	COMPLETED	A Study of the Genetic Analysis of Brain Disorders
NCT04691414	Not specified	COMPLETED	Retrospective Study Using Next Generation Sequencing (NGS) on Biological Samples to Improve Genetic Counseling for Patients With Previously Explored Craniofacial Midline Defects.