NOTCH2NLC

Summary

NOTCH2NLC (notch 2 N-terminal like C, HGNC:53924) is a protein-coding gene on chromosome 1q21.2, encoding Notch homolog 2 N-terminal-like protein C (P0DPK4). Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway.

Enables Notch binding activity. Involved in cerebral cortex development and positive regulation of Notch signaling pathway. Located in extracellular region. Implicated in essential tremor 6; neuronal intranuclear inclusion disease; and oculopharyngodistal myopathy 3.

Source: NCBI Gene 100996717 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 1 total — 1 pathogenic
• Phenotypes (HPO): 99
• MANE Select transcript: NM_001364013

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53924
Approved symbol	NOTCH2NLC
Name	notch 2 N-terminal like C
Location	1q21.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000286219
Ensembl biotype	protein_coding
OMIM	618025
Entrez	100996717

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000578189, ENST00000650865, ENST00000652191

RefSeq mRNA: 2 — MANE Select: NM_001364013 NM_001364012, NM_001364013

CCDS: CCDS86015, CCDS91047

Canonical transcript exons

ENST00000650865 — 5 exons

Exon	Start	End
ENSE00003539993	149463491	149463826
ENSE00003667718	149455318	149455577
ENSE00003841640	149430942	149431015
ENSE00003844965	149390621	149390922
ENSE00003936961	149464077	149471833

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 92.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.3343 / max 96.5141, expressed in 1609 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
201712	4.0547	1495
201711	0.9030	557
201713	0.3765	84

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	92.09	gold quality
left testis	UBERON:0004533	91.63	gold quality
stromal cell of endometrium	CL:0002255	90.78	gold quality
testis	UBERON:0000473	90.67	gold quality
right testis	UBERON:0004534	89.95	gold quality
colonic epithelium	UBERON:0000397	89.62	gold quality
skin of leg	UBERON:0001511	89.35	gold quality
zone of skin	UBERON:0000014	89.03	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.79	gold quality
skin of abdomen	UBERON:0001416	88.61	gold quality
granulocyte	CL:0000094	88.57	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.53	gold quality
blood	UBERON:0000178	87.34	gold quality
monocyte	CL:0000576	87.28	gold quality
leukocyte	CL:0000738	87.12	gold quality
sural nerve	UBERON:0015488	86.80	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	86.71	gold quality
calcaneal tendon	UBERON:0003701	86.55	gold quality
bone marrow cell	CL:0002092	86.24	gold quality
vagina	UBERON:0000996	85.72	gold quality
uterine cervix	UBERON:0000002	85.53	gold quality
esophagus mucosa	UBERON:0002469	84.75	gold quality
bone marrow	UBERON:0002371	84.72	gold quality
ectocervix	UBERON:0012249	84.38	gold quality
prostate gland	UBERON:0002367	84.37	gold quality
right lobe of liver	UBERON:0001114	84.28	gold quality
tonsil	UBERON:0002372	84.13	gold quality
popliteal artery	UBERON:0002250	83.60	gold quality
tibial artery	UBERON:0007610	83.60	gold quality
liver	UBERON:0002107	83.49	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-MTAB-6075	yes	3712.09
E-GEOD-125970	yes	833.92
E-HCAD-13	yes	283.97
E-MTAB-6678	yes	22.65
E-GEOD-93593	yes	17.31
E-ANND-3	yes	7.06
E-CURD-10	no	1503.08
E-GEOD-124858	no	1243.79
E-CURD-135	no	595.26

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 24)

• the emergence of human-specific NOTCH2NL genes may have contributed to the rapid evolution of the larger human neocortex, accompanied by loss of genomic stability at the 1q21.1 locus and resulting recurrent neurodevelopmental disorders (PMID:29856954)
• Expansion of NOTCH2NLC GGC Repeat is associated with Neuronal Intranuclear Inclusion Disease-Related Disorders. (PMID:31178126)
• GGC repeat expansions in NOTCH2NLC gene is associated with neuronal intranuclear inclusion disease. (PMID:31332381)
• Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor. (PMID:31819945)
• Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy. (PMID:32039647)
• Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy. (PMID:32250060)
• Evolution of Human Brain Size-Associated NOTCH2NL Genes Proceeds toward Reduced Protein Levels. (PMID:32330268)
• NOTCH2NLC GGC Repeat Expansions Are Associated with Sporadic Essential Tremor: Variable Disease Expressivity on Long-Term Follow-up. (PMID:32495371)
• Phenotypic bases of NOTCH2NLC GGC expansion positive neuronal intranuclear inclusion disease in a Southeast Asian cohort. (PMID:32602554)
• No genetic evidence for the involvement of GGC repeat expansions of the NOTCH2NLC gene in Chinese patients with multiple system atrophy. (PMID:32768149)
• Identification of GGC repeat expansion in the NOTCH2NLC gene in amyotrophic lateral sclerosis. (PMID:32989102)
• CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations. (PMID:33239111)
• The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3. (PMID:33693509)
• Analysis of NOTCH2NLC GGC repeat expansion in Taiwanese patients with amyotrophic lateral sclerosis. (PMID:34392981)
• GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies. (PMID:34675106)
• NOTCH2NLC-related disorders: the widening spectrum and genotype-phenotype correlation. (PMID:34675123)
• Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing. (PMID:34774111)
• Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson’s Disease in the European Population. (PMID:35866887)
• Muscle and skin fibroblast TDP-43 expression, dynamic mutation analysis of NOTCH2NLC and C9orf72 in patients with FOSMN. (PMID:35974122)
• NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy. (PMID:36942588)
• Clinical phenotypic diversity of NOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan. (PMID:36948577)
• Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort. (PMID:37237429)
• GGC expansions in NOTCH2NLC contribute to Parkinson disease and dopaminergic neuron degeneration. (PMID:37975799)
• Investigating Repeat Expansions in NIPA1, NOP56, and NOTCH2NLC Genes: A Closer Look at Amyotrophic Lateral Sclerosis Patients from Southern Italy. (PMID:38667292)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	notchl	ENSDARG00000088308
drosophila_melanogaster	N	FBGN0004647
caenorhabditis_elegans		WBGENE00003001

Paralogs (7): NOTCH3 (ENSG00000074181), NOTCH2 (ENSG00000134250), NOTCH1 (ENSG00000148400), SNED1 (ENSG00000162804), NOTCH2NLA (ENSG00000264343), NOTCH2NLB (ENSG00000286019), NOTCH2NLR (ENSG00000286106)

Protein

Protein identifiers

Notch homolog 2 N-terminal-like protein C — P0DPK4 (reviewed: P0DPK4)

All UniProt accessions (1): P0DPK4

UniProt curated annotations — full annotation on UniProt →

Function. Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway. Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production. Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect. Enhances Notch signaling pathway in a non-cell-autonomous manner via direct interaction with NOTCH2. Also promotes Notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions, which promotes neuronal differentiation.

Subunit / interactions. Interacts with NOTCH2. Interacts with DLL1; the interaction is direct.

Subcellular location. Secreted.

Tissue specificity. Expressed in radial glia neural stem cells during cortical development.

Disease relevance. Neuronal intranuclear inclusion disease (NIID) [MIM:603472] An autosomal dominant, slowly progressive, neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in the central and peripheral nervous system, and also in the visceral organs. Clinical manifestations are variable and include pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction. The disease is caused by variants affecting the gene represented in this entry. The molecular defect in NOTCH2NLC is a CGG repeat expansion in the 5-prime untranslated region of the gene. The expansion can be greater than one hundred repeat units in patients, while healthy individuals have 5 to 43 repeats. Defects in NOTCH2NLC may be a cause of chromosome 1q21.1 deletion/duplication syndrome. Deletions of NOTCH2NL (NOTCH2NLA, NOTCH2NLB and/or NOTCH2NLC) are present in patients affected by microcephaly, whereas macrocephaly is observed in patients with NOTCH2NL duplications. Tremor, hereditary essential 6 (ETM6) [MIM:618866] A form of essential tremor, a common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles may also be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. ETM6 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. Oculopharyngodistal myopathy 3 (OPDM3) [MIM:619473] A form of oculopharyngodistal myopathy, a rare hereditary muscle disease characterized by progressive distal limb weakness, ptosis, ophthalmoplegia, bulbar muscle weakness and rimmed vacuoles on muscle biopsy. In addition to muscular features, OPDM3 patients may develop pigmentary retinopathy, peripheral neuropathy, or hearing loss. Cognition is usually not affected, but there may be deficits or psychiatric manifestations. Brain imaging tends to show a leukoencephalopathy, often with a characteristic linear signal along the corticomedullary junction on brain imaging. OPDM3 is a slowly progressive form with an autosomal dominant transmission pattern, and variable age at onset ranging from childhood to late adulthood. The disease is caused by variants affecting the gene represented in this entry. The causative mutation is a heterozygous trinucleotide repeat expansion (CGG) that results in expanded polyglycine (polyG) tract in isoform 1. Mutant proteins may form aggregates that contribute to toxicity and induce cell death.

Miscellaneous. NOTCH2NLA, NOTCH2NLB and NOTCH2NLC paralogs arose between 4 and 3 million years ago, after the separation of hominids from the chimpanzee and during the early stages of the expansion of the human cortex.

Similarity. Belongs to the NOTCH family.

Isoforms (2)

UniProt ID	Names	Canonical?
P0DPK4-1	1	yes
P0DPK4-2	2

RefSeq proteins (2): NP_001350941, NP_001350942* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000152	EGF-type_Asp/Asn_hydroxyl_site	PTM
IPR000742	EGF	Domain
IPR001881	EGF-like_Ca-bd_dom	Domain
IPR018097	EGF_Ca-bd_CS	Conserved_site
IPR049883	NOTCH1_EGF-like	Domain

Pfam: PF00008, PF07645

UniProt features (27 total): disulfide bond 17, domain 6, glycosylation site 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DPK4-F1	80.67	0.61

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (17): 53–69, 71–80, 86–97, 91–108, 110–119, 127–139, 133–149, 151–160, 166–177, 171–186, 188–197, 204–216, 210–225, 227–236, 243–254, 248–264, 46–59

Glycosylation sites (2): 64, 173

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-2979096	NOTCH2 Activation and Transmission of Signal to the Nucleus
R-HSA-9911233	Expression of NOTCH2NL genes

MSigDB gene sets: 196 (showing top): REACTOME_SIGNALING_BY_NOTCH, GOBP_POSITIVE_REGULATION_OF_NOTCH_SIGNALING_PATHWAY, GOBP_FOREBRAIN_DEVELOPMENT, GOBP_CEREBRAL_CORTEX_DEVELOPMENT, GOBP_PALLIUM_DEVELOPMENT, GOBP_REGULATION_OF_NOTCH_SIGNALING_PATHWAY, GOBP_HEAD_DEVELOPMENT, GOBP_TELENCEPHALON_DEVELOPMENT, chr1q21, REACTOME_NOTCH2_ACTIVATION_AND_TRANSMISSION_OF_SIGNAL_TO_THE_NUCLEUS, HP_ABNORMALITY_OF_THE_BLADDER, HP_ABNORMALITY_OF_THE_TONGUE, HP_ABNORMAL_PALATE_MORPHOLOGY, HP_MOVEMENT_ABNORMALITY_OF_THE_TONGUE, HP_TONGUE_MUSCLE_WEAKNESS

GO Biological Process (3): Notch signaling pathway (GO:0007219), cerebral cortex development (GO:0021987), positive regulation of Notch signaling pathway (GO:0045747)

GO Molecular Function (2): calcium ion binding (GO:0005509), protein binding (GO:0005515)

GO Cellular Component (1): extracellular region (GO:0005576)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Signaling by NOTCH2	1
Pre-NOTCH Transcription and Translation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell surface receptor signaling pathway	1
pallium development	1
anatomical structure development	1
Notch signaling pathway	1
regulation of Notch signaling pathway	1
positive regulation of signal transduction	1
metal ion binding	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

668 interactions, top by confidence:

A	B	Type	Score
ATG9A	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
NOTCH2NLC	DAGLB	psi-mi:“MI:0915”(physical association)	0.000
SMCP	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
ZNF672	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
SLC23A1	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
ZNF497	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
KRTAP13-3	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
MRGBP	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
COL8A1	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
PVR	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
CCER1	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
LCE2B	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
WDR25	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
SEMA3B	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
KRTAP26-1	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
LCE1A	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
ZNF417	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
KRTAP9-2	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
LNX1	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
LYVE1	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
FZD10	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
NECTIN2	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
PHLDA1	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
FRS3	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
DMRT3	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
TCAF1	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
PTK7	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
ZNF414	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
RAB3IL1	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000

ESM2 similar proteins: A0A096LNW5, B8JI71, D3ZHH1, G3I6Z6, O00548, O35516, O57409, P0DPK3, P0DPK4, P35442, P46531, P78504, P97677, Q01705, Q04721, Q05793, Q07008, Q08E66, Q2QI47, Q5G872, Q5ZQU0, Q61483, Q63722, Q66PY1, Q6DI48, Q6NZL8, Q70E20, Q7TQN3, Q7Z3S9, Q8IWY4, Q8IX30, Q8JZM4, Q8K3K1, Q8NFT8, Q8TER0, Q8TEU8, Q8UWJ4, Q8VHS2, Q90Y54, Q90Y57

Diamond homologs: A0A096LNW5, A2RUV0, B4DH59, B8JI71, G3I6Z6, O35516, O75882, P07207, P0DPK3, P0DPK4, P10040, P21783, P46530, P46531, P98160, Q01705, Q04721, Q04756, Q07008, Q20911, Q7Z3S9, Q99466, Q99J86, Q9QW30, Q9UM47, Q9WU60, O35474, O75095, O89019, P13508, P20749, P31695, P82279, Q499M5, Q502K3, Q5RBP1, Q61982, Q6UXI9, Q6UY11, Q810B6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 160 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
Keratinization	29	16.3×	3e-25
Formation of the cornified envelope	11	9.8×	1e-06

GO biological processes:

GO term	Partners	Fold	FDR
hair cycle	5	36.0×	8e-05
keratinization	10	18.0×	2e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
691867	NM_001364012.2:c.-164GGC[(66_517)]	Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1910 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:149455463:T:A	C62S	0.998
1:149455464:G:C	C62S	0.998
1:149455577:G:T	G100C	0.998
1:149463631:T:A	C147S	0.998
1:149463632:G:C	C147S	0.998
1:149455448:T:C	F57L	0.997
1:149455450:T:A	F57L	0.997
1:149455450:T:G	F57L	0.997
1:149463499:T:A	C103S	0.997
1:149463500:G:C	C103S	0.997
1:149463595:T:C	F135L	0.997
1:149463597:C:A	F135L	0.997
1:149463597:C:G	F135L	0.997
1:149455379:T:A	C34S	0.996
1:149455380:G:C	C34S	0.996
1:149455465:C:G	C62W	0.996
1:149455523:T:A	C82S	0.996
1:149455524:G:C	C82S	0.996
1:149455553:T:A	C92S	0.996
1:149455554:G:C	C92S	0.996
1:149455571:T:C	F98L	0.996
1:149455573:T:A	F98L	0.996
1:149455573:T:G	F98L	0.996
1:149463550:T:A	C120S	0.996
1:149463551:G:C	C120S	0.996
1:149463610:T:A	C140S	0.996
1:149463611:G:C	C140S	0.996
1:149463727:T:A	C179S	0.996
1:149463728:G:A	C179Y	0.996
1:149463728:G:C	C179S	0.996

dbSNP variants (sampled 300 via entrez): RS1156236466 (1:149422059 C>A,G), RS1156256488 (1:149464523 A>G), RS1156283396 (1:149450802 G>A), RS1156323971 (1:149392846 C>A,T), RS1156361458 (1:149435522 G>C), RS1156399941 (1:149407215 G>A,C,T), RS1156401280 (1:149449652 A>G,T), RS1156418102 (1:149419931 A>G), RS1156465155 (1:149434199 G>T), RS1156468242 (1:149420858 A>G,T), RS1156472594 (1:149391687 G>C), RS1156481947 (1:149448899 TGA>T), RS1156493920 (1:149408655 A>G), RS1156503205 (1:149462712 G>A), RS1156541701 (1:149423996 G>A,C)

Disease associations

OMIM: gene MIM:618025 | disease phenotypes: MIM:603472, MIM:619473, MIM:618866

GenCC curated gene-disease

Mondo (3): neuronal intranuclear inclusion disease (MONDO:0011327), oculopharyngodistal myopathy 3 (MONDO:0023671), tremor, hereditary essential, 6 (MONDO:0030027)

Orphanet (1): Neuronal intranuclear inclusion disease (Orphanet:2289)

HPO phenotypes

99 total (30 of 99 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000020	Urinary incontinence
HP:0000183	Tongue muscle weakness
HP:0000218	High palate
HP:0000301	Abnormality of facial musculature
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000408	Progressive sensorineural hearing impairment
HP:0000467	Neck muscle weakness
HP:0000508	Ptosis
HP:0000580	Pigmentary retinopathy
HP:0000590	Progressive external ophthalmoplegia
HP:0000597	Ophthalmoparesis
HP:0000600	Abnormality of the pharynx
HP:0000602	Ophthalmoplegia
HP:0000613	Photophobia
HP:0000616	Miosis
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000708	Atypical behavior
HP:0000726	Dementia
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001260	Dysarthria
HP:0001265	Hyporeflexia
HP:0001272	Cerebellar atrophy
HP:0001276	Hypertonia
HP:0001279	Syncope
HP:0001284	Areflexia
HP:0001288	Gait disturbance

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C537395	Neuronal intranuclear inclusion disease (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
methacrylaldehyde	increases abundance, affects cotreatment, increases expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Air Pollutants	increases abundance, increases expression, affects cotreatment	1
Vehicle Emissions	increases abundance, decreases expression	1
Ozone	increases abundance, affects cotreatment, increases expression	1
Cadmium Chloride	increases expression	1
Okadaic Acid	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1
Volatile Organic Compounds	affects cotreatment, increases expression	1

Cellosaurus cell lines

4 cell lines: 4 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A0JP	JTUi005-A	Induced pluripotent stem cell	Male
CVCL_A3ZH	ZZUi020-A	Induced pluripotent stem cell	Female
CVCL_C0IH	ZZUi036-A	Induced pluripotent stem cell	Female
CVCL_E8TR	PNUYHi003-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04055857	Not specified	UNKNOWN	Structural and Functional Changes in Neuronal Intranuclear Inclusion Disease(NIID)