NFIA

Summary

NFIA (nuclear factor I A, HGNC:7784) is a protein-coding gene on chromosome 1p31.3, encoding Nuclear factor 1 A-type (Q12857). Recognizes and binds the palindromic sequence 5’-TTGGCNNNNNGCCAA-3’ present in viral and cellular promoters and in the origin of replication of adenovirus type 2. It is haploinsufficient (ClinGen: sufficient evidence).

This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 4774 — RefSeq curated summary.

At a glance

• Gene–disease (curated): brain malformations with or without urinary tract defects (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 148
• Clinical variants (ClinVar): 435 total — 34 pathogenic, 31 likely-pathogenic
• Phenotypes (HPO): 43
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• Transcription factor: yes — 69 downstream targets (CollecTRI)
• MANE Select transcript: NM_001134673

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7784
Approved symbol	NFIA
Name	nuclear factor I A
Location	1p31.3
Locus type	gene with protein product
Status	Approved
Aliases	NFI-L, KIAA1439
Ensembl gene	ENSG00000162599
Ensembl biotype	protein_coding
OMIM	600727
Entrez	4774

Gene structure

Transcript identifiers

Ensembl transcripts: 39 — 31 protein_coding, 5 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000357977, ENST00000371184, ENST00000371185, ENST00000371187, ENST00000371189, ENST00000371191, ENST00000403491, ENST00000407417, ENST00000476646, ENST00000479364, ENST00000482020, ENST00000485903, ENST00000493627, ENST00000496712, ENST00000603233, ENST00000655770, ENST00000657234, ENST00000662015, ENST00000663597, ENST00000664149, ENST00000664495, ENST00000670151, ENST00000699964, ENST00000699965, ENST00000699966, ENST00000699967, ENST00000699968, ENST00000699986, ENST00000699987, ENST00000699992, ENST00000699993, ENST00000872256, ENST00000872257, ENST00000872258, ENST00000872259, ENST00000872260, ENST00000872261, ENST00000920881, ENST00000967055

RefSeq mRNA: 4 — MANE Select: NM_001134673 NM_001134673, NM_001145511, NM_001145512, NM_005595

CCDS: CCDS44156, CCDS53321, CCDS53322, CCDS615

Canonical transcript exons

ENST00000403491 — 11 exons

Exon	Start	End
ENSE00001780640	61455303	61462788
ENSE00002313970	61082561	61082818
ENSE00003468859	61359147	61359274
ENSE00003485833	61383237	61383365
ENSE00003504032	61406562	61406727
ENSE00003617389	61277520	61277585
ENSE00003659669	61352450	61352567
ENSE00003672154	61404104	61404282
ENSE00003687580	61088149	61088680
ENSE00003693164	61426465	61426556
ENSE00003790841	61332512	61332586

Expression profiles

Bgee: expression breadth ubiquitous, 281 present calls, max score 98.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 43.6214 / max 2822.2560, expressed in 1652 samples.

FANTOM5 promoters (23 alternative TSS)

Promoter ID	TPM avg	Samples expressed
3082	24.2335	1497
3080	4.6842	818
3079	4.3441	893
3084	2.6487	628
3103	1.9664	437
3076	1.4055	643
3099	0.7529	340
3081	0.6611	227
3077	0.6573	350
3074	0.4318	233

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
medial globus pallidus	UBERON:0002477	98.78	gold quality
globus pallidus	UBERON:0001875	98.53	gold quality
urethra	UBERON:0000057	98.41	gold quality
vena cava	UBERON:0004087	98.40	gold quality
saphenous vein	UBERON:0007318	98.40	gold quality
buccal mucosa cell	CL:0002336	98.37	gold quality
cardia of stomach	UBERON:0001162	98.06	gold quality
nipple	UBERON:0002030	97.94	gold quality
parietal pleura	UBERON:0002400	97.88	gold quality
endothelial cell	CL:0000115	97.78	silver quality
synovial joint	UBERON:0002217	97.71	gold quality
mammary duct	UBERON:0001765	97.68	gold quality
caput epididymis	UBERON:0004358	97.61	gold quality
colonic epithelium	UBERON:0000397	97.58	gold quality
cauda epididymis	UBERON:0004360	97.45	gold quality
penis	UBERON:0000989	97.44	gold quality
tendon of biceps brachii	UBERON:0008188	97.36	gold quality
lateral globus pallidus	UBERON:0002476	97.31	gold quality
pylorus	UBERON:0001166	97.27	gold quality
trigeminal ganglion	UBERON:0001675	97.26	gold quality
ventral tegmental area	UBERON:0002691	97.11	gold quality
inferior vagus X ganglion	UBERON:0005363	97.09	gold quality
pericardium	UBERON:0002407	97.05	gold quality
superior vestibular nucleus	UBERON:0007227	97.05	gold quality
germinal epithelium of ovary	UBERON:0001304	97.01	gold quality
superficial temporal artery	UBERON:0001614	96.63	gold quality
epithelium of mammary gland	UBERON:0003244	96.59	gold quality
dorsal root ganglion	UBERON:0000044	96.54	gold quality
pharyngeal mucosa	UBERON:0000355	96.53	gold quality
mucosa of paranasal sinus	UBERON:0005030	96.51	gold quality

Single-cell (SCXA)

Detected in 26 experiment(s), a significant marker in 22.

Experiment	Marker?	Max mean expression
E-MTAB-9435	yes	1750.98
E-MTAB-10485	yes	1491.76
E-HCAD-5	yes	1285.78
E-HCAD-56	yes	1050.73
E-GEOD-93593	yes	842.89
E-MTAB-9154	yes	790.75
E-MTAB-11121	yes	426.79
E-HCAD-4	yes	137.37
E-HCAD-35	yes	86.56
E-HCAD-6	yes	64.42
E-MTAB-8410	yes	60.49
E-HCAD-10	yes	53.62
E-CURD-112	yes	48.60
E-GEOD-134144	yes	33.79
E-CURD-46	yes	26.49

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

69 targets.

Target	Regulation
ADORA2A
ALB
ALDOA	Unknown
ANOS1	Repression
BACE1
C4BPB
CCL2	Activation
CCND2
CDKN1A	Repression
CEBPD	Activation
CSF1
CSF3R
CYP1A1
CYP1A2
CYP2A6
DBI
EPHA4	Activation
EPHA5	Activation
EPHA8	Activation
ETV5	Repression
FN1
FOXO6	Repression
GABRA6	Unknown
GAS6	Repression
GFAP	Activation
GJB1
GOT1
GSTP1	Activation
HBG1
HES1	Repression

JASPAR motifs

Motif	Name	Family
MA0670.1	NFIA	Nuclear factor 1
MA0670.2	NFIA	Nuclear factor 1

JASPAR matrix evidence (PMIDs): PMID:10085123

Upstream regulators (CollecTRI, top): NFIA, NFIC, SOX9

miRNA regulators (miRDB)

298 targeting NFIA, 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-3613-3P	100.00	76.36	7965
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-223-3P	99.99	70.14	1140

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Disruption of the Nfia gene in the mouse causes perinatal lethality, agenesis of the corpus callosum and hydrocephalus. (PMID:10518556)
• Role in the expression mechanism of hNaPi-IIb gene transcription. (PMID:15458926)
• nuclear factor I has a role in the intrinsic control of cerebellar granule neuron gene expression (PMID:15466411)
• Distribution of nuclear factor I binding sites correlate with Z-DNA forming regions in human chromosome 22. (PMID:15598822)
• Data show that human granulocytic differentiation is controlled by a regulatory circuitry involving miR-223 and two transcriptional factors, NFI-A and C/EBPalpha. (PMID:16325577)
• The NF1-A transcription factor plays an important role in the transcriptional activation of the TR2 orphan receptor gene expression via a promoter activating cis-element. (PMID:17010934)
• The mouse Nfia mutant phenotype and the common features among five human cases indicate that NFIA haploinsufficiency contributes to a novel human central nervous system malformation syndrome that can also include ureteral and renal defects. (PMID:17530927)
• NFI family of transcription factors plays a key role in the regulation of both the B-FABP and GFAP genes in malignant glioma cells. (PMID:19540848)
• in early hematopoiesis, the NFI-A expression level acts as a novel factor channeling HPCs into either the E or G lineage (PMID:19542302)
• NFIA expression in white matter lesions of human newborns with neonatal HIE, as well active MS lesions in adults, revealed that it is similarly expressed in oligodendrocyte progenitors and not oligodendrocytes. (PMID:22807310)
• These data suggest that genetic variants in the NF1A gene region may predispose to seasonal patterned of mania in bipolar disorder. (PMID:22925353)
• These studies represent the first characterization of miR-223/NFIA axis function in glioma (PMID:23946414)
• High nuclear factor IA expression is associated with glioblastomas. (PMID:24305710)
• This report presents the first case of an intragenic deletion within the NFIA gene that is still consistent with classic clinical phenotypes present in previously reported cases of chromosome 1p31.3 related deletion. (PMID:24462883)
• a strong candidate gene for asthma and allergic rhinitis (PMID:24560411)
• TGF-beta-mediated suppression of ANT2 through NF1/Smad4 complexes contributes to oxidative stress and DNA damage during induction of cellular senescence. (PMID:25220407)
• RP5-833A20.1/miR-382-5p/NFIA pathway was essential to the regulation of cholesterol homeostasis and inflammatory reactions. (PMID:25265644)
• NFI-A is involved in the miR-21-induced expression of IL-10 in B cells in nasopharyngeal carcinoma; Il-10 is capable of suppressing CD8+ T-cell activities. (PMID:25544502)
• this family also carried a microdeletion affecting solely the NFIA gene, this study substantiates the importance of this gene in craniofacial development. (PMID:25714559)
• microRNA-136 targeted and degraded NFIA, which induced the release of microRNA-223, promoting CD11b expression. Direct base pairing occurs between miR-136 and the 3’ UTR of NFIA mRNA. (PMID:26329426)
• Dihydrocapsaicin can significantly decrease proinflammatory cytokines through enhancing NFIA and inhibiting NF-kappaB expression (PMID:27267730)
• Altogether, these results demonstrated that miR-370 suppressed hepatitis B virus gene expression and replication through repressing NFIA expression, which stimulates hepatitis B virus replication via direct regulation on hepatitis B virus Enhancer I activities. (PMID:27664977)
• These results demonstrated that RP5833A20.1 inhibited tumor cell proliferation, induced apoptosis and inhibited cellcycle progression by suppressing the expression of NFIA in U251 cells. (PMID:27779670)
• Data define a previously unknown nuclear factor I-A-nuclear factor-kappaB feed-forward regulation that may contribute to glioblastoma cell survival. (PMID:27994064)
• miR-191 was upregulated in patients with middle- and late-stage NSCLC, and in NSCLC cell lines, under mild hypoxic conditions. miR-191 promoted the proliferation and migration of NSCLC under chronic hypoxic conditions, and this promotion may be associated with its targeting of NFIA. (PMID:28075452)
• Studies indicate the role of nuclear factor one (NFIs) as epigenetic regulators in cancer. (PMID:28076901)
• We verified that NFIA binds to the IGFBP2 promoter and transcriptionally enhances IGFBP2 expression levels. We identified that NFIA-mediated IGFBP2 signaling pathways are involved in miR-302b-induced glioma cell death. (PMID:28323865)
• The consistent overlap in clinical presentation provides further evidence of the critical role of NFIA haploinsufficiency in the development of the 1p32-p31 microdeletion syndrome phenotype. (PMID:28941020)
• High NFIA expression in tumors of patients with esophageal squamous cell carcinoma (ESCC) is correlated with lymph node metastasis and poor differentiation. NFIA is found to be an independent predictor of poor prognosis in patients with ESCC. (PMID:29577671)
• This study reveals NFIA as a pro-endocrine factor in the pancreas, acting to repress Mib1, inhibit Dll1 endocytosis and thus promote escape from Notch activation. (PMID:30590051)
• Transient expression of NFIA is sufficient to trigger glial competency of human pluripotent stem cell-derived neural stem cells within 5 days and to convert these cells into astrocytes in the presence of glial-promoting factors, as compared to 3-6 months using current protocols. (PMID:30804533)
• NFIA enhances cell radiosensitivity by downregulating p-AKT and p-ERK in non-small cell lung cancer (PMID:31178144)
• NFIA is highly expressed in reactive astrocytes in neurological injury and we identify unique roles across distinct injury states and regions of the CNS. (PMID:31498149)
• our results indicated that miR-212-3p targeting NFIA might serve as a promising target for bladder cancer (BC) (PMID:31502558)
• High Nuclear factor I A expresion is associated with temozolomide resistance in glioblastoma via activation of nuclear factor kappaB pathway. (PMID:31614149)
• Low expression of NFIA is associated with high-grade glioblastoma. (PMID:31760595)
• Genome-wide association study identifies susceptibility loci of brain atrophy to NFIA and ST18 in Alzheimer’s disease. (PMID:33640202)
• The miR-223/nuclear factor I-A axis regulates inflammation and cellular functions in intestinal tissues with necrotizing enterocolitis. (PMID:33932136)
• Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles. (PMID:33973697)
• Nuclear Factor IA Is Down-regulated in Muscle-invasive and High-grade Bladder Cancers. (PMID:34969759)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	nfia	ENSDARG00000062420
mus_musculus	Nfia	ENSMUSG00000028565
rattus_norvegicus	Nfia	ENSRNOG00000006966
drosophila_melanogaster	NfI	FBGN0042696
caenorhabditis_elegans		WBGENE00003592

Paralogs (3): NFIX (ENSG00000008441), NFIC (ENSG00000141905), NFIB (ENSG00000147862)

Protein

Protein identifiers

Nuclear factor 1 A-type — Q12857 (reviewed: Q12857)

Alternative names: CCAAT-box-binding transcription factor, Nuclear factor I/A, TGGCA-binding protein

All UniProt accessions (24): A0A590UJ67, A0A590UJ82, A0A590UJA3, A0A590UJU2, A0A590UK09, A0A590UK38, A0A590UK73, Q12857, A0A8V8TP49, A0A8V8TP65, A0A8V8TPG7, A0A8V8TPN0, A0A8V8TQG7, A0A8V8TQI3, A0A8V8TQV0, B1AKN5, B1AKN6, B1AKN7, B1AKN8, S4R308, S4R3K4, S4R3K5, S4R3W2, S4R3W6

UniProt curated annotations — full annotation on UniProt →

Function. Recognizes and binds the palindromic sequence 5’-TTGGCNNNNNGCCAA-3’ present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.

Subunit / interactions. Binds DNA as a homodimer.

Subcellular location. Nucleus.

Disease relevance. Brain malformations with or without urinary tract defects (BRMUTD) [MIM:613735] A syndrome characterized by corpus callosum hypoplasia or agenesis, hydrocephalus or ventricular enlargement, developmental delay, and urinary tract defects. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.

Similarity. Belongs to the CTF/NF-I family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q12857-1	1	yes
Q12857-2	2
Q12857-3	3
Q12857-4	4

RefSeq proteins (4): NP_001128145, NP_001138983, NP_001138984, NP_005586 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000647	CTF/NFI	Family
IPR003619	MAD_homology1_Dwarfin-type	Domain
IPR019548	CTF/NFI_DNA-bd_N	Domain
IPR019739	CTF/NFI_DNA-bd_CS	Conserved_site
IPR020604	CTF/NFI_DNA-bd-dom	Domain

Pfam: PF00859, PF03165, PF10524

UniProt features (36 total): modified residue 12, compositionally biased region 7, sequence conflict 7, region of interest 4, splice variant 3, chain 1, DNA-binding region 1, short sequence motif 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
9XVQ	X-RAY DIFFRACTION	1.76
9JH2	X-RAY DIFFRACTION	2.3
9XVF	X-RAY DIFFRACTION	2.6
9LC2	X-RAY DIFFRACTION	2.7
9JH4	X-RAY DIFFRACTION	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q12857-F1	63.78	0.32

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 (12): 258, 265, 280, 287, 300, 305, 319, 360, 389, 469, 471, 469

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-73980	RNA Polymerase III Transcription Termination
R-HSA-749476	RNA Polymerase III Abortive And Retractive Initiation

MSigDB gene sets: 546 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, REACTOME_RNA_POLYMERASE_III_TRANSCRIPTION_TERMINATION, GOBP_URETER_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, HNF3ALPHA_Q6, GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_NEUROGENESIS, ATGCAGT_MIR217, CHANDRAN_METASTASIS_DN, GOBP_NEURAL_PRECURSOR_CELL_PROLIFERATION, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_ORGANELLE_FISSION

GO Biological Process (23): cell morphogenesis (GO:0000902), DNA replication (GO:0006260), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), response to wounding (GO:0009611), exit from mitosis (GO:0010458), gene expression (GO:0010467), glial cell proliferation (GO:0014009), viral genome replication (GO:0019079), glial cell fate specification (GO:0021780), BMP signaling pathway (GO:0030509), limb morphogenesis (GO:0035108), positive regulation of transcription by RNA polymerase II (GO:0045944), neuron fate specification (GO:0048665), cartilage development (GO:0051216), retina development in camera-type eye (GO:0060041), synapse maturation (GO:0060074), neural precursor cell proliferation (GO:0061351), ureter development (GO:0072189), regulation of gene expression (GO:0010468), neurogenesis (GO:0022008), positive regulation of DNA-templated transcription (GO:0045893), generation of neurons (GO:0048699)

GO Molecular Function (8): 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 transcription activator activity, RNA polymerase II-specific (GO:0001228), chromatin binding (GO:0003682), DNA-binding transcription factor activity (GO:0003700), DNA-binding transcription factor binding (GO:0140297), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cell junction (GO:0030054)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RNA Polymerase III Transcription	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
cellular anatomical structure	3
regulation of DNA-templated transcription	2
transcription by RNA polymerase II	2
cell population proliferation	2
cell fate specification	2
regulation of transcription by RNA polymerase II	2
animal organ development	2
binding	2
anatomical structure morphogenesis	1
DNA metabolic process	1
DNA biosynthetic process	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
response to stress	1
mitotic cell cycle phase transition	1
mitotic nuclear division	1
macromolecule biosynthetic process	1
gliogenesis	1
viral process	1
viral life cycle	1
glial cell fate commitment	1
cellular response to BMP stimulus	1
transforming growth factor beta receptor superfamily signaling pathway	1
appendage morphogenesis	1
limb development	1
positive regulation of DNA-templated transcription	1
neuron fate commitment	1
skeletal system development	1
connective tissue development	1
camera-type eye development	1
anatomical structure development	1
nervous system development	1
developmental maturation	1
synapse organization	1
tube development	1
renal system development	1
gene expression	1
regulation of macromolecule biosynthetic process	1

Protein interactions and networks

STRING

1478 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NFIA	SOX9	P48436	822
NFIA	SPI1	P17947	791
NFIA	SLC1A3	P43003	752
NFIA	CSF1R	P07333	688
NFIA	SPIB	Q01892	649
NFIA	SATB1	Q01826	554
NFIA	NKX2-1	P43699	552
NFIA	JUND	P17535	498
NFIA	DMRTA2	Q96SC8	498
NFIA	CEBPA	P49715	495
NFIA	OLIG2	Q13516	492
NFIA	EBF1	Q9UH73	490
NFIA	NF1	P21359	490
NFIA	FOXA1	P55317	475
NFIA	PAX6	P26367	469

IntAct

114 interactions, top by confidence:

A	B	Type	Score
NFIB	NFIC	psi-mi:“MI:0914”(association)	0.690
NFIC	NFIB	psi-mi:“MI:0914”(association)	0.690
NFIC	NFIB	psi-mi:“MI:2364”(proximity)	0.690
NFIA	NFIB	psi-mi:“MI:0914”(association)	0.570
NFIX	NFIB	psi-mi:“MI:0914”(association)	0.570
FOS	MYO1C	psi-mi:“MI:2364”(proximity)	0.480
NFIA	TBXT	psi-mi:“MI:0915”(physical association)	0.470
NFIA	ETV7	psi-mi:“MI:0915”(physical association)	0.470
NFIA	GATA3	psi-mi:“MI:0915”(physical association)	0.470
NFIA	FOS	psi-mi:“MI:0915”(physical association)	0.470
NFIA	KLF16	psi-mi:“MI:0915”(physical association)	0.470
NFIA	FOXI1	psi-mi:“MI:0915”(physical association)	0.470
NFIA	EN1	psi-mi:“MI:0915”(physical association)	0.470
NFIA	LHX2	psi-mi:“MI:0915”(physical association)	0.470
NFIA	ELK3	psi-mi:“MI:0915”(physical association)	0.470
NFIA	KLF3	psi-mi:“MI:0915”(physical association)	0.470
NFIA	LHX3	psi-mi:“MI:0915”(physical association)	0.470
NFIA	ERG	psi-mi:“MI:0915”(physical association)	0.470
NFIA	GATA2	psi-mi:“MI:0915”(physical association)	0.470
NFIA	KLF8	psi-mi:“MI:0915”(physical association)	0.470
NFIA	LHX4	psi-mi:“MI:0915”(physical association)	0.470
NFIA	PRDM1	psi-mi:“MI:0915”(physical association)	0.470
NFIA	SOX10	psi-mi:“MI:0915”(physical association)	0.470
NFIA	TLX2	psi-mi:“MI:0915”(physical association)	0.470
NFIA	PAX2	psi-mi:“MI:0915”(physical association)	0.470
NFIA	SOX2	psi-mi:“MI:0915”(physical association)	0.470
NFIA	SOX15	psi-mi:“MI:0915”(physical association)	0.470
NFIA	TLX3	psi-mi:“MI:0915”(physical association)	0.470
NFIA	PAX6	psi-mi:“MI:0915”(physical association)	0.470

BioGRID (864): SMAD4 (Affinity Capture-Western), NFIA (Reconstituted Complex), NFIA (Reconstituted Complex), NFIA (Reconstituted Complex), NFIA (Affinity Capture-MS), NFIA (Affinity Capture-MS), NFIA (Affinity Capture-MS), NFIA (Affinity Capture-MS), NFIA (Affinity Capture-MS), NFIA (Reconstituted Complex), NFIA (Affinity Capture-RNA), NFIA (Biochemical Activity), NFIA (Two-hybrid), NFIA (Affinity Capture-MS), NFIA (Proximity Label-MS)

ESM2 similar proteins: A0A1B0GVQ3, A0A1W2PPK0, A0A1W2PPM1, A2A9I7, A6NCI8, A6QQS3, A7XCE8, E9PI22, E9PXT9, O15016, O91083, P09414, P0DMB1, P17923, P18804, P20879, P35965, P49750, Q0P670, Q12857, Q1RMX6, Q32LN6, Q32MG2, Q3B8N5, Q3T016, Q3V0A6, Q4JK59, Q5BI31, Q5T035, Q5ZKH6, Q642A3, Q6AXV6, Q6IMN6, Q6P1W5, Q6PEX7, Q6X4T0, Q80YD3, Q86UF4, Q8BII1, Q8C5V0

Diamond homologs: O00712, P08651, P09414, P13622, P13623, P14057, P17923, P17924, P17926, P21999, P70255, P70257, P97863, Q02780, Q0VCL6, Q12857, Q14938, Q5H9N3, Q90932

SIGNOR signaling

18 interactions.

A	Effect	B	Mechanism
TFAP4	“up-regulates activity”	NFIA	binding
NFIA	“up-regulates quantity by expression”	MYOD1	“transcriptional regulation”
NFIA	“up-regulates quantity by expression”	MYOG	“transcriptional regulation”
NFIA	“up-regulates quantity”	NFIX	“transcriptional regulation”
NFIA	“down-regulates quantity”	ANOS1	“transcriptional regulation”
NFIA	“down-regulates quantity”	ID3	“transcriptional regulation”
NFIA	“down-regulates quantity”	ETV5	“transcriptional regulation”
NFIA	“down-regulates quantity”	FOXO6	“transcriptional regulation”
NFIA	“down-regulates quantity”	GAS6	“transcriptional regulation”
NFIA	“down-regulates quantity”	WNT5A	“transcriptional regulation”
NFIA	“up-regulates quantity”	NEUROD1	“transcriptional regulation”
NFIA	“up-regulates quantity”	NEUROD4	“transcriptional regulation”
NFIA	“up-regulates quantity”	SLIT1	“transcriptional regulation”
NFIA	“up-regulates quantity”	ROBO1	“transcriptional regulation”
NFIA	“up-regulates quantity”	EPHA4	“transcriptional regulation”
NFIA	“up-regulates quantity”	EPHA5	“transcriptional regulation”
NFIA	“up-regulates quantity”	EPHA8	“transcriptional regulation”
NFIA	“up-regulates quantity”	RBFOX3	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 88 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Deactivation of the beta-catenin transactivating complex	6	25.0×	1e-05
Gastrulation	5	23.2×	1e-04
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	7	18.3×	1e-05
Transcriptional regulation by RUNX1	5	13.1×	1e-03
TCF dependent signaling in response to WNT	6	12.6×	3e-04
Signaling by WNT	6	12.0×	4e-04
Transcriptional regulation of granulopoiesis	5	11.2×	2e-03
MITF-M-regulated melanocyte development	5	10.2×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of miRNA transcription	8	27.4×	7e-08
anatomical structure morphogenesis	11	18.0×	4e-09
inner ear morphogenesis	5	17.7×	4e-04
somatic stem cell population maintenance	6	17.5×	1e-04
cell fate commitment	5	17.4×	4e-04
cartilage development	5	14.8×	8e-04
cellular response to retinoic acid	5	13.8×	9e-04
transcription by RNA polymerase II	16	13.3×	1e-11

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	34
Likely pathogenic	31
Uncertain significance	158
Likely benign	128
Benign	41

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1031132	NM_001134673.4(NFIA):c.89G>A (p.Trp30Ter)	Pathogenic
1205313	NM_001134673.4(NFIA):c.344GAA[1] (p.Arg116del)	Pathogenic
1308662	NM_001134673.4(NFIA):c.100C>T (p.Gln34Ter)	Pathogenic
1453616	NM_001134673.4(NFIA):c.205C>T (p.Gln69Ter)	Pathogenic
1699181	NM_001134673.4(NFIA):c.248del (p.Ile83fs)	Pathogenic
2098987	NM_001134673.4(NFIA):c.129dup (p.His44fs)	Pathogenic
2506869	NM_001134673.4(NFIA):c.356G>A (p.Cys119Tyr)	Pathogenic
2571793	NM_001134673.4(NFIA):c.3G>A (p.Met1Ile)	Pathogenic
2578576	NM_001134673.4(NFIA):c.889C>T (p.Gln297Ter)	Pathogenic
2690897	NM_001134673.4(NFIA):c.27+1G>C	Pathogenic
2738411	NM_001134673.4(NFIA):c.25C>T (p.Gln9Ter)	Pathogenic
2758879	NM_001134673.4(NFIA):c.1118C>G (p.Ser373Ter)	Pathogenic
2871682	NM_001134673.4(NFIA):c.274del (p.Val92fs)	Pathogenic
3648140	NM_001134673.4(NFIA):c.1042_1046del (p.Gln348fs)	Pathogenic
3726427	NM_001134673.4(NFIA):c.746del (p.Leu249fs)	Pathogenic
3778590	NM_001134673.4(NFIA):c.763_766dup (p.Ser256fs)	Pathogenic
417968	NM_001134673.4(NFIA):c.1094del (p.Pro365fs)	Pathogenic
4292603	NM_001134673.4(NFIA):c.645_646insTC (p.Phe217fs)	Pathogenic
445152	NC_000001.10:g.61497698_61607171del	Pathogenic
452925	NM_001134673.4(NFIA):c.1008_1009dup (p.Ser337fs)	Pathogenic
4813077	NM_001134673.4(NFIA):c.918_921del (p.Ser307fs)	Pathogenic
4820624	NM_001134673.4(NFIA):c.1180G>T (p.Glu394Ter)	Pathogenic
4847666	NC_000001.10:g.(61548491_61553820)_(61554353_61743191)del	Pathogenic
489177	NM_001134673.4(NFIA):c.250C>T (p.Arg84Ter)	Pathogenic
504296	NM_001134673.4(NFIA):c.586C>T (p.Gln196Ter)	Pathogenic
520601	NM_001134673.4(NFIA):c.1076-1G>A	Pathogenic
520892	NM_001134673.4(NFIA):c.307dup (p.Cys103fs)	Pathogenic
521252	NM_001134673.4(NFIA):c.1145_1148del (p.Tyr382fs)	Pathogenic
523874	NM_001134673.4(NFIA):c.220C>T (p.Arg74Ter)	Pathogenic
617624	NM_001134673.4(NFIA):c.373A>G (p.Lys125Glu)	Pathogenic

SpliceAI

4671 predictions. Top by Δscore:

Variant	Effect	Δscore
1:61088139:A:AG	acceptor_gain	1.0000
1:61088140:T:G	acceptor_gain	1.0000
1:61088145:CTAG:C	acceptor_loss	1.0000
1:61088146:TAGGA:T	acceptor_loss	1.0000
1:61088147:A:AG	acceptor_gain	1.0000
1:61088147:A:AT	acceptor_loss	1.0000
1:61088147:AG:A	acceptor_gain	1.0000
1:61088147:AGGAT:A	acceptor_gain	1.0000
1:61088148:G:GA	acceptor_gain	1.0000
1:61088148:GG:G	acceptor_gain	1.0000
1:61088148:GGA:G	acceptor_gain	1.0000
1:61088148:GGAT:G	acceptor_gain	1.0000
1:61088148:GGATG:G	acceptor_gain	1.0000
1:61117379:A:AG	donor_gain	1.0000
1:61159068:A:AG	acceptor_gain	1.0000
1:61159069:T:G	acceptor_gain	1.0000
1:61277518:A:AG	acceptor_gain	1.0000
1:61277518:AGAT:A	acceptor_loss	1.0000
1:61277519:G:GG	acceptor_gain	1.0000
1:61277583:ATGG:A	donor_loss	1.0000
1:61277585:GGT:G	donor_loss	1.0000
1:61277586:G:A	donor_loss	1.0000
1:61277586:G:GG	donor_gain	1.0000
1:61277587:TAAG:T	donor_loss	1.0000
1:61332587:G:GG	donor_gain	1.0000
1:61352448:A:AG	acceptor_gain	1.0000
1:61352449:G:GG	acceptor_gain	1.0000
1:61352563:ACGAG:A	donor_loss	1.0000
1:61352564:CGAG:C	donor_loss	1.0000
1:61352565:GAGG:G	donor_loss	1.0000

AlphaMissense

3302 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:61088155:T:C	F12L	1.000
1:61088157:T:A	F12L	1.000
1:61088157:T:G	F12L	1.000
1:61088158:C:G	H13D	1.000
1:61088164:T:C	F15L	1.000
1:61088165:T:C	F15S	1.000
1:61088166:C:A	F15L	1.000
1:61088166:C:G	F15L	1.000
1:61088168:T:A	I16N	1.000
1:61088177:T:A	L19H	1.000
1:61088177:T:C	L19P	1.000
1:61088180:T:C	L20P	1.000
1:61088189:T:A	V23D	1.000
1:61088201:C:A	A27D	1.000
1:61088203:T:G	Y28D	1.000
1:61088209:T:A	W30R	1.000
1:61088209:T:C	W30R	1.000
1:61088211:G:C	W30C	1.000
1:61088211:G:T	W30C	1.000
1:61088212:T:A	F31I	1.000
1:61088212:T:C	F31L	1.000
1:61088213:T:C	F31S	1.000
1:61088213:T:G	F31C	1.000
1:61088214:C:A	F31L	1.000
1:61088214:C:G	F31L	1.000
1:61088219:T:C	L33P	1.000
1:61088223:G:C	Q34H	1.000
1:61088223:G:T	Q34H	1.000
1:61088225:C:A	A35D	1.000
1:61088228:G:C	R36P	1.000

dbSNP variants (sampled 300 via entrez): RS1000000138 (1:61150530 T>C), RS1000002567 (1:61207184 A>G), RS1000020746 (1:61107118 C>T), RS1000020903 (1:61315027 A>T), RS1000038140 (1:61293026 T>C), RS1000067270 (1:61081702 C>G,T), RS1000090553 (1:61375758 C>G), RS1000092019 (1:61106600 C>A,T), RS1000100616 (1:61335490 A>G), RS1000116905 (1:61326942 T>A), RS1000117149 (1:61167560 A>C), RS1000132290 (1:61135356 G>A,C), RS1000134410 (1:61318415 C>T), RS1000138672 (1:61305123 G>A), RS1000141353 (1:61156724 A>G)

Disease associations

OMIM: gene MIM:600727 | disease phenotypes: MIM:613735

GenCC curated gene-disease

Disease	Classification	Inheritance
chromosome 1p32-p31 deletion syndrome	Definitive	Autosomal dominant
brain malformations with or without urinary tract defects	Definitive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
brain malformations with or without urinary tract defects	Definitive	AD

Mondo (6): chromosome 1p32-p31 deletion syndrome (MONDO:0013396), brain malformations with or without urinary tract defects (MONDO:0100478), neurodevelopmental disorder (MONDO:0700092), breast ductal adenocarcinoma (MONDO:0005590), cleft palate (MONDO:0016064), intellectual disability (MONDO:0001071)

Orphanet (3): 1p31p32 microdeletion syndrome (Orphanet:401986), Cleft palate (Orphanet:2014), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

43 total (30 of 43 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000023	Inguinal hernia
HP:0000076	Vesicoureteral reflux
HP:0000079	Abnormality of the urinary system
HP:0000089	Renal hypoplasia
HP:0000126	Hydronephrosis
HP:0000160	Narrow mouth
HP:0000219	Thin upper lip vermilion
HP:0000256	Macrocephaly
HP:0000283	Broad face
HP:0000331	Short chin
HP:0000337	Broad forehead
HP:0000369	Low-set ears
HP:0000396	Overfolded helix
HP:0000463	Anteverted nares
HP:0000582	Upslanted palpebral fissure
HP:0000722	Compulsive behaviors
HP:0000965	Cutis marmorata
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001274	Agenesis of corpus callosum
HP:0001363	Craniosynostosis
HP:0001508	Failure to thrive
HP:0002007	Frontal bossing
HP:0002079	Hypoplasia of the corpus callosum
HP:0002119	Ventriculomegaly
HP:0002144	Tethered cord
HP:0002194	Delayed gross motor development

GWAS associations

148 associations (top):

Study	Trait	p-value
GCST000612_37	Celiac disease	1.000000e-07
GCST001135_1	Bipolar disorder	3.000000e-06
GCST001178_1	Plasma omega-3 polyunsaturated fatty acid level (eicosapentaenoic acid)	2.000000e-07
GCST001856_27	Thyroid hormone levels	2.000000e-07
GCST001856_59	Thyroid hormone levels	6.000000e-07
GCST001856_7	Thyroid hormone levels	5.000000e-12
GCST001893_5	Electrocardiographic conduction measures	6.000000e-18
GCST002930_4	Cobalt levels	1.000000e-06
GCST003598_11	QRS duration	1.000000e-22
GCST003598_27	QRS duration	1.000000e-06
GCST003598_38	QRS duration	1.000000e-17
GCST003844_24	QRS duration	7.000000e-19
GCST003997_9	Myopia	6.000000e-13
GCST004031_11	QT interval (sulfonylurea treatment interaction)	8.000000e-07
GCST004032_10	JT interval (sulfonylurea treatment interaction)	2.000000e-08
GCST005905_6	Global electrical heterogeneity phenotypes	4.000000e-11
GCST005905_7	Global electrical heterogeneity phenotypes	2.000000e-10
GCST006922_2	Regular attendance at a religious group	8.000000e-13
GCST006948_8	Feeling nervous	2.000000e-09
GCST006956_11	Erectile dysfunction	2.000000e-06
GCST006979_978	Heel bone mineral density	3.000000e-09
GCST006979_979	Heel bone mineral density	3.000000e-09
GCST006988_57	Blond vs. brown/black hair color	4.000000e-09
GCST007227_4	QRS duration	2.000000e-21
GCST007323_2	Risk-taking tendency (4-domain principal component model)	4.000000e-09
GCST007325_312	General risk tolerance (MTAG)	5.000000e-14
GCST007326_97	Number of sexual partners	3.000000e-12
GCST008156_146	Hip circumference adjusted for BMI	9.000000e-06
GCST008367_18	Plasma anti-thyroglobulin and anti-thyroid peroxidase levels (bivariate analysis)	3.000000e-06
GCST008489_22	Celiac disease	2.000000e-08

EFO canonical traits (17, from GWAS)

EFO ID	Trait name
EFO:0007760	eicosapentaenoic acid measurement
EFO:0004730	hormone measurement
EFO:0005054	QRS complex
EFO:0004682	QT interval
EFO:0007922	response to sulfonylurea
EFO:0007885	JT interval
EFO:0004327	electrocardiography
EFO:0009592	social interaction measurement
EFO:0009597	feeling nervous measurement
EFO:0009270	heel bone mineral density
EFO:0003924	hair color
EFO:0008579	risk-taking behaviour
EFO:0008039	BMI-adjusted hip circumference
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004530	triglyceride measurement
EFO:0004462	PR interval
EFO:0004501	HOMA-IR

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390
D002972	Cleft Palate	C05.500.460.185; C05.660.207.540.460.185; C07.320.440.185; C07.465.525.185; C07.650.500.460.185; C07.650.525.185; C16.131.621.207.540.460.185; C16.131.850.500.460.185; C16.131.850.525.185
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, increases methylation	8
Benzo(a)pyrene	decreases expression, affects methylation	5
Tobacco Smoke Pollution	decreases expression	3
Aflatoxin B1	affects expression, decreases expression, decreases methylation	3
sodium arsenite	decreases expression, increases abundance, increases expression	2
potassium chromate(VI)	affects cotreatment, decreases expression	2
Arsenic Trioxide	decreases expression, increases expression	2
Acetaminophen	decreases expression	2
Air Pollutants	decreases expression, increases abundance	2
Estradiol	increases expression	2
Tretinoin	affects binding, decreases reaction, increases expression	2
Cyclosporine	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
butyraldehyde	decreases expression	1
manganese chloride	increases expression, increases abundance	1
coumarin	affects phosphorylation	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects response to substance	1
epigallocatechin gallate	increases expression, affects cotreatment, decreases expression	1
pentanal	decreases expression	1
chromium hexavalent ion	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
2,2’,4,4’,5-brominated diphenyl ether	decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
incobotulinumtoxinA	increases expression	1
NSC 689534	affects binding, decreases expression	1

Cellosaurus cell lines

4 cell lines: 3 embryonic stem cell, 1 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A4M7	SEES3-1V human NFIA, clone1	Embryonic stem cell	Male
CVCL_A4M8	SEES3-1V human NFIA, clone2	Embryonic stem cell	Male
CVCL_A4M9	SEES3-1V human NFIA, clone3	Embryonic stem cell	Male
CVCL_E3UE	DPNJMUi003-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02422056	PHASE4	COMPLETED	Acid Tranexamic Effectiveness in Reducing the Intraoperative Bleeding in Palatoplasty
NCT02915042	PHASE4	WITHDRAWN	Dexmedetomidine vs Placebo for Pediatric Cleft Palate Repair
NCT02953145	PHASE4	WITHDRAWN	The Use of Fibrin Sealant to Reduce Post Operative Pain in Cleft Palate Surgery
NCT03632044	PHASE4	ACTIVE_NOT_RECRUITING	Evaluation of Trigeminal Nerve Blockade
NCT06962306	PHASE4	RECRUITING	Optimizing Perioperative Analgesia to Lower Pain Following Cleft Palate Surgery
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00098319	PHASE3	COMPLETED	Oral Cleft Prevention Trial in Brazil
NCT00397917	PHASE3	COMPLETED	Oral Cleft Prevention Program
NCT04928352	PHASE3	RECRUITING	Nebulized Bupivacaine Analgesia for Cleft Palate Repair
NCT04928391	PHASE3	COMPLETED	A Single Bolus of Dexmedetomidine Versus Normal Saline in Postoperative Agitation
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT00004639	PHASE2	COMPLETED	Cleft Palate Surgery and Speech Development
NCT00760006	PHASE2	COMPLETED	Preventing Complications in Cleft Palate Repair With Antibiotics
NCT01760330	PHASE2	WITHDRAWN	IV Acetaminophen in Children Undergoing Palatoplasty
NCT02350803	PHASE2	COMPLETED	Does Use of Rigid Fixation After Removing Distraction Osteogenesis Device Reduce the Relapse?
NCT03412474	PHASE2	COMPLETED	Suprazygomatic Block in Cleft Palate Surgery in Children
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders