NBEAL1

Summary

NBEAL1 (neurobeachin like 1, HGNC:20681) is a protein-coding gene on chromosome 2q33.2, encoding Neurobeachin-like protein 1 (Q6ZS30).

Predicted to enable protein kinase binding activity. Predicted to be involved in protein localization. Predicted to be active in cytosol and membrane.

Source: NCBI Gene 65065 — RefSeq curated summary.

At a glance

• GWAS associations: 32
• Clinical variants (ClinVar): 406 total
• MANE Select transcript: NM_001378026

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20681
Approved symbol	NBEAL1
Name	neurobeachin like 1
Location	2q33.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC164581
Ensembl gene	ENSG00000144426
Ensembl biotype	protein_coding
OMIM	609816
Entrez	65065

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 8 protein_coding, 8 retained_intron, 4 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay

ENST00000414576, ENST00000434469, ENST00000449802, ENST00000460355, ENST00000460416, ENST00000463830, ENST00000478884, ENST00000483147, ENST00000492870, ENST00000497505, ENST00000681967, ENST00000682077, ENST00000682108, ENST00000682333, ENST00000682630, ENST00000682787, ENST00000683001, ENST00000683091, ENST00000683338, ENST00000683650, ENST00000683927, ENST00000683969, ENST00000684091, ENST00000684709

RefSeq mRNA: 2 — MANE Select: NM_001378026 NM_001114132, NM_001378026

CCDS: CCDS46495, CCDS92930

Canonical transcript exons

ENST00000683969 — 56 exons

Exon	Start	End
ENSE00001333887	203190292	203190389
ENSE00001333892	203183279	203183388
ENSE00001333895	203180382	203180512
ENSE00001333898	203175147	203175287
ENSE00001333904	203171928	203172023
ENSE00001333910	203167227	203167360
ENSE00001333914	203166149	203166297
ENSE00001333916	203151465	203151589
ENSE00001333920	203148991	203149148
ENSE00001333921	203145011	203145160
ENSE00001333924	203144600	203144905
ENSE00001333926	203138162	203138315
ENSE00001333928	203136599	203136774
ENSE00001371491	203157699	203157825
ENSE00001384936	203138620	203138748
ENSE00001463745	203197302	203197391
ENSE00001463746	203193795	203193911
ENSE00001833013	203097547	203097633
ENSE00002206568	203169747	203169851
ENSE00002207261	203122254	203122343
ENSE00002208676	203135677	203136252
ENSE00002213757	203099629	203099712
ENSE00002220041	203172729	203172853
ENSE00002233100	203130318	203130476
ENSE00002234428	203126824	203126926
ENSE00002235744	203202687	203202781
ENSE00002237033	203110150	203110282
ENSE00002238831	203131973	203132132
ENSE00002241658	203107608	203108188
ENSE00002251991	203213518	203213653
ENSE00002252461	203125352	203125520
ENSE00002257897	203111979	203112098
ENSE00002283824	203210958	203211106
ENSE00002285606	203115985	203116070
ENSE00002291371	203113015	203113318
ENSE00002295183	203126557	203126716
ENSE00002301628	203127781	203127937
ENSE00002301936	203107420	203107518
ENSE00002303782	203208637	203208753
ENSE00002307696	203199338	203199447
ENSE00002316189	203125960	203126093
ENSE00002318888	203201543	203201715
ENSE00002319087	203133058	203133146
ENSE00002320798	203209161	203209322
ENSE00003467861	203049814	203049975
ENSE00003479507	203016156	203016435
ENSE00003494024	203068393	203068475
ENSE00003515927	203083219	203083525
ENSE00003555821	203056427	203056508
ENSE00003578053	203041765	203041856
ENSE00003580418	203084463	203084569
ENSE00003582717	203077752	203077837
ENSE00003596600	203057326	203057453
ENSE00003654468	203188472	203188589
ENSE00003921189	203217253	203225194
ENSE00003921521	203014875	203014982

Expression profiles

Bgee: expression breadth ubiquitous, 238 present calls, max score 93.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.9706 / max 236.3705, expressed in 1797 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
24740	11.6213	1787
24741	2.5501	1285
24739	0.8334	284
24738	0.4886	173
202538	0.2834	80
24742	0.1938	58

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	93.78	gold quality
calcaneal tendon	UBERON:0003701	93.17	gold quality
cauda epididymis	UBERON:0004360	91.49	gold quality
adrenal tissue	UBERON:0018303	91.36	gold quality
jejunal mucosa	UBERON:0000399	91.28	gold quality
pylorus	UBERON:0001166	90.42	gold quality
bone marrow cell	CL:0002092	90.13	gold quality
caput epididymis	UBERON:0004358	89.88	gold quality
corpus epididymis	UBERON:0004359	89.71	gold quality
saphenous vein	UBERON:0007318	89.16	gold quality
cardia of stomach	UBERON:0001162	88.69	gold quality
mucosa of paranasal sinus	UBERON:0005030	88.18	gold quality
pericardium	UBERON:0002407	87.20	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.00	gold quality
tendon	UBERON:0000043	86.92	gold quality
renal medulla	UBERON:0000362	86.02	gold quality
mucosa of sigmoid colon	UBERON:0004993	85.86	gold quality
adult organism	UBERON:0007023	85.70	gold quality
pigmented layer of retina	UBERON:0001782	85.43	gold quality
layer of synovial tissue	UBERON:0007616	84.11	gold quality
nipple	UBERON:0002030	84.06	gold quality
ganglionic eminence	UBERON:0004023	83.76	gold quality
colonic mucosa	UBERON:0000317	83.56	gold quality
jejunum	UBERON:0002115	83.53	gold quality
cortical plate	UBERON:0005343	82.63	gold quality
trachea	UBERON:0003126	82.60	gold quality
mucosa of transverse colon	UBERON:0004991	82.38	gold quality
oral cavity	UBERON:0000167	82.19	gold quality
sural nerve	UBERON:0015488	82.19	gold quality
corpus callosum	UBERON:0002336	82.02	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	13.61
E-HCAD-35	yes	8.15
E-CURD-135	no	1101.71
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

45 targeting NBEAL1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-8080	99.82	67.52	1342
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-4645-3P	99.76	69.33	993
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-372-5P	99.41	69.11	2299
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-3678-3P	99.31	67.10	1432
HSA-MIR-16-2-3P	99.29	70.60	1954
HSA-MIR-195-3P	99.29	70.61	1954

Literature-anchored findings (GeneRIF, showing 1)

• isolation of human neurobeachin-like 1 (NBEAL1); highly expressed in the brain, kidney, prostate, and testis, and in biopsies of different grade glioma [NBEAL1] (PMID:15193433)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	nbeal1	ENSDARG00000099547
mus_musculus	Nbeal1	ENSMUSG00000073664
rattus_norvegicus	Nbeal1	ENSRNOG00000021525
caenorhabditis_elegans		WBGENE00004760
caenorhabditis_elegans		WBGENE00007752

Paralogs (7): NSMAF (ENSG00000035681), WDFY4 (ENSG00000128815), LYST (ENSG00000143669), NBEAL2 (ENSG00000160796), WDFY3 (ENSG00000163625), NBEA (ENSG00000172915), LRBA (ENSG00000198589)

Protein

Protein identifiers

Neurobeachin-like protein 1 — Q6ZS30 (reviewed: Q6ZS30)

Alternative names: Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 16 protein, Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 17 protein

All UniProt accessions (12): Q6ZS30, A0A804HHU0, A0A804HI87, A0A804HIR8, A0A804HJ72, A0A804HJM0, A0A804HJX4, A0A804HKB6, A0A804HKC1, A0A804HKS6, H7BZA0, H7C3C8

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Highly expressed in brain, kidney, prostate and testis. Weakly expressed in ovary, small intestine, colon and peripheral blood leukocytes. May be correlative to several tumors, such as ovary serous adenocarcinoma and metastasis mammary gland carcinoma breast.

Similarity. Belongs to the WD repeat neurobeachin family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6ZS30-2	2	yes
Q6ZS30-1	1

RefSeq proteins (2): NP_001107604, NP_001364955* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000409	BEACH_dom	Domain
IPR001680	WD40_rpt	Repeat
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR023362	PH-BEACH_dom	Domain
IPR031570	NBEA/BDCP_DUF4704	Domain
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR036372	BEACH_dom_sf	Homologous_superfamily
IPR046851	NBCH_WD40	Domain
IPR050865	BEACH_Domain	Family

Pfam: PF02138, PF14844, PF15787, PF16057, PF20426

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZS30-F1	75.20	0.13

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 99 (showing top): GCANCTGNY_MYOD_Q6, MILI_PSEUDOPODIA_CHEMOTAXIS_UP, CUI_TCF21_TARGETS_2_DN, AACTGGA_MIR145, THUM_SYSTOLIC_HEART_FAILURE_DN, COULOUARN_TEMPORAL_TGFB1_SIGNATURE_UP, WANG_RESPONSE_TO_GSK3_INHIBITOR_SB216763_UP, DUTERTRE_ESTRADIOL_RESPONSE_24HR_DN, JOHNSTONE_PARVB_TARGETS_3_DN, GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_DN, MYC_UP.V1_DN, SRC_UP.V1_DN, STK33_SKM_UP, STK33_UP, GSE14699_NAIVE_VS_ACT_CD8_TCELL_DN

GO Biological Process (1): intracellular protein localization (GO:0008104)

GO Molecular Function (2): protein kinase binding (GO:0019901), protein binding (GO:0005515)

GO Cellular Component (2): cytosol (GO:0005829), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
macromolecule localization	1
kinase binding	1
binding	1
cytoplasm	1

Protein interactions and networks

STRING

580 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NBEAL1	ICA1L	Q8NDH6	693
NBEAL1	FAM117B	Q6P1L5	652
NBEAL1	WDR12	Q9GZL7	518
NBEAL1	ZBTB44	Q8NCP5	472
NBEAL1	CARF	Q8N187	456
NBEAL1	A0A087WT04	A0A087WT04	448
NBEAL1	C1QL1	O75973	447
NBEAL1	SERTAD4	Q9NUC0	446
NBEAL1	TRIM65	Q6PJ69	437
NBEAL1	SLC25A44	Q96H78	430
NBEAL1	MRPL38	Q96DV4	423
NBEAL1	SACS	Q9NZJ4	422
NBEAL1	TRIM47	Q96LD4	419
NBEAL1	C16orf95	Q9H693	418
NBEAL1	SH3PXD2A	Q5TCZ1	405

IntAct

30 interactions, top by confidence:

A	B	Type	Score
SDC2	PDPK1	psi-mi:“MI:0914”(association)	0.640
ANKRD22	ESYT2	psi-mi:“MI:0914”(association)	0.530
ILVBL	SLC33A1	psi-mi:“MI:0914”(association)	0.530
Nek9	EML1	psi-mi:“MI:0914”(association)	0.350
AP1S2	SLC43A3	psi-mi:“MI:0914”(association)	0.350
RGMA	BDP1	psi-mi:“MI:0914”(association)	0.350
HNRNPA1	MATR3	psi-mi:“MI:0914”(association)	0.350
HNRNPU		psi-mi:“MI:0914”(association)	0.350
Klc2	KLC1	psi-mi:“MI:0914”(association)	0.350
Smc1a	PDS5B	psi-mi:“MI:0914”(association)	0.350
HIF1A	PIAS1	psi-mi:“MI:0914”(association)	0.350
KIF1C	HSPA8	psi-mi:“MI:0914”(association)	0.350
Spire2	KLF4	psi-mi:“MI:0914”(association)	0.350
CHMP4B		psi-mi:“MI:0914”(association)	0.350
CNTROB	CENPX	psi-mi:“MI:0914”(association)	0.350
SDC2	METTL8	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
VPS35	ILVBL	psi-mi:“MI:0914”(association)	0.350
NPTN	RTL8C	psi-mi:“MI:0914”(association)	0.350
KCNE3	TMEM131L	psi-mi:“MI:0914”(association)	0.350
CD40	IPO5	psi-mi:“MI:0914”(association)	0.350
DHCR24	PDE2A	psi-mi:“MI:0914”(association)	0.350
NPTN	RIMOC1	psi-mi:“MI:0914”(association)	0.350
S1PR3	STXBP3	psi-mi:“MI:0914”(association)	0.350
VSIG1	RIMOC1	psi-mi:“MI:0914”(association)	0.350
MFSD14A	FAM171A2	psi-mi:“MI:0914”(association)	0.350
NBEAL1	hflK	psi-mi:“MI:0915”(physical association)	0.000
	NBEAL1	psi-mi:“MI:0915”(physical association)	0.000
NBEAL1	cobB	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (35): NBEAL1 (Affinity Capture-MS), NBEAL1 (Affinity Capture-MS), NBEAL1 (Affinity Capture-MS), NBEAL1 (Affinity Capture-MS), NBEAL1 (Affinity Capture-MS), NBEAL1 (Affinity Capture-MS), NBEAL1 (Affinity Capture-MS), NBEAL1 (Affinity Capture-MS), NBEAL1 (Affinity Capture-MS), NBEAL1 (Affinity Capture-MS), NBEAL1 (Affinity Capture-MS), NBEAL1 (Affinity Capture-MS), NBEAL1 (Affinity Capture-MS), NBEAL1 (Affinity Capture-RNA), NBEAL1 (Proximity Label-MS)

ESM2 similar proteins: A0JM23, A0M8T3, A1X154, A6H7D1, A7MBF6, A8Y5U1, B1WC10, E9Q9R9, F1M649, F1MHT9, O00750, O88480, O95876, P0CI65, P50851, Q008S8, Q00PJ3, Q07E17, Q07E30, Q07E43, Q09YN0, Q108U1, Q15052, Q2IBF5, Q2IBG0, Q2QLA4, Q2QLB5, Q32NR4, Q32NR9, Q3UP24, Q3V129, Q4V7F0, Q5XXR3, Q5ZLR6, Q692V3, Q6AZT7, Q6P2S7, Q6P3V7, Q6PIY5, Q6ZS30

Diamond homologs: A1C7E4, A5D7H2, D5GBI7, G4MQX3, O43815, O54927, O55106, P47025, P49026, P58404, P58405, P70483, P93340, P97499, Q00659, Q05040, Q13033, Q499N3, Q4VBE8, Q54J37, Q54TD8, Q5U2W5, Q68FJ6, Q6ZS30, Q7T2F6, Q8C4J7, Q99973, Q9C270, Q9ERG2, Q9NRL3, Q9Y6I7, A8XSV3, D4A929, E7FAW3, E9Q2M9, F4HZB2, F4IG73, F4JD14, F4JHT3, O35242

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	336
Likely benign	19
Benign	8

Top pathogenic / likely-pathogenic (0)

SpliceAI

9340 predictions. Top by Δscore:

Variant	Effect	Δscore
2:203014983:G:GG	donor_gain	1.0000
2:203016151:CACA:C	acceptor_loss	1.0000
2:203016153:CA:C	acceptor_loss	1.0000
2:203016154:A:C	acceptor_loss	1.0000
2:203016155:GATTT:G	acceptor_gain	1.0000
2:203041759:TTTCA:T	acceptor_loss	1.0000
2:203041761:TCA:T	acceptor_loss	1.0000
2:203041762:CAG:C	acceptor_loss	1.0000
2:203041763:A:AG	acceptor_gain	1.0000
2:203041763:AG:A	acceptor_loss	1.0000
2:203041764:G:A	acceptor_loss	1.0000
2:203041764:G:GG	acceptor_gain	1.0000
2:203041764:GAA:G	acceptor_gain	1.0000
2:203041764:GAAA:G	acceptor_gain	1.0000
2:203041852:ACCAG:A	donor_loss	1.0000
2:203041853:CCAG:C	donor_loss	1.0000
2:203041854:CAGGT:C	donor_loss	1.0000
2:203041855:AGGT:A	donor_loss	1.0000
2:203041856:GGTA:G	donor_loss	1.0000
2:203041857:G:A	donor_loss	1.0000
2:203041858:T:A	donor_loss	1.0000
2:203049951:TC:T	donor_gain	1.0000
2:203056505:GCAA:G	donor_gain	1.0000
2:203056509:G:GG	donor_gain	1.0000
2:203057324:A:AG	acceptor_gain	1.0000
2:203057325:G:GA	acceptor_gain	1.0000
2:203057325:GTT:G	acceptor_gain	1.0000
2:203057325:GTTA:G	acceptor_gain	1.0000
2:203057325:GTTAA:G	acceptor_gain	1.0000
2:203057452:GG:G	donor_gain	1.0000

AlphaMissense

18009 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:203171931:T:A	W2007R	1.000
2:203171931:T:C	W2007R	1.000
2:203016415:T:A	W11R	0.999
2:203016415:T:C	W11R	0.999
2:203041789:T:A	W26R	0.999
2:203041789:T:C	W26R	0.999
2:203057434:T:A	W166R	0.999
2:203057434:T:C	W166R	0.999
2:203108085:T:A	W587R	0.999
2:203108085:T:C	W587R	0.999
2:203108174:G:C	R616S	0.999
2:203108174:G:T	R616S	0.999
2:203110181:G:C	A632P	0.999
2:203113222:T:A	W775R	0.999
2:203113222:T:C	W775R	0.999
2:203171933:G:C	W2007C	0.999
2:203171933:G:T	W2007C	0.999
2:203171965:T:C	L2018P	0.999
2:203171992:G:C	R2027P	0.999
2:203172735:T:A	W2040R	0.999
2:203172735:T:C	W2040R	0.999
2:203183341:T:A	W2191R	0.999
2:203183341:T:C	W2191R	0.999
2:203188505:T:A	W2218R	0.999
2:203188505:T:C	W2218R	0.999
2:203199377:T:A	W2361R	0.999
2:203199377:T:C	W2361R	0.999
2:203077809:T:C	L219P	0.998
2:203077815:G:A	G221E	0.998
2:203084505:T:C	L345P	0.998

dbSNP variants (sampled 300 via entrez): RS1000003364 (2:203218113 C>A,T), RS1000015097 (2:203169953 C>T), RS1000029369 (2:203191129 G>A), RS1000057771 (2:203090546 A>G), RS1000061903 (2:203043949 C>G,T), RS1000062484 (2:203122158 A>G), RS1000081882 (2:203116440 A>T), RS1000119670 (2:203203180 T>C), RS1000143143 (2:203069978 A>G), RS1000172274 (2:203203480 CTG>C), RS1000175928 (2:203163296 G>T), RS1000186357 (2:203083966 T>C), RS1000200635 (2:203014428 T>G), RS1000229634 (2:203145533 C>T), RS1000270192 (2:203155697 C>T)

Disease associations

OMIM: gene MIM:609816 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

32 associations (top):

Study	Trait	p-value
GCST001762_197	Obesity-related traits	3.000000e-06
GCST001762_242	Obesity-related traits	4.000000e-07
GCST001762_762	Obesity-related traits	2.000000e-07
GCST001762_782	Obesity-related traits	2.000000e-07
GCST003013_22	White matter hyperintensity burden	5.000000e-08
GCST003013_8	White matter hyperintensity burden	6.000000e-08
GCST005194_24	Coronary artery disease	2.000000e-32
GCST005195_132	Coronary artery disease	1.000000e-32
GCST005196_213	Coronary artery disease	2.000000e-32
GCST007269_79	Pulse pressure	4.000000e-13
GCST008876_38	Non-lobar intracerebral hemorrhage (MTAG)	2.000000e-07
GCST008876_39	Non-lobar intracerebral hemorrhage (MTAG)	2.000000e-07
GCST010101_5	White matter hyperintensities	4.000000e-13
GCST010102_1	White matter integrity (fractional anisotropy)	7.000000e-08
GCST010102_2	White matter integrity (fractional anisotropy)	6.000000e-09
GCST010396_12	Gut microbiota (bacterial taxa, hurdle binary method)	9.000000e-06
GCST010698_18	Subcortical volume (min-P)	1.000000e-08
GCST010699_69	Brain morphology (min-P)	9.000000e-20
GCST010700_6	Cortical thickness (MOSTest)	2.000000e-14
GCST010701_36	Cortical surface area (MOSTest)	2.000000e-24
GCST010702_146	Subcortical volume (MOSTest)	2.000000e-13
GCST010703_42	Brain morphology (MOSTest)	1.000000e-08
GCST010726_17	Periventricular white matter hyperintensities	1.000000e-09
GCST011946_34	White matter hyperintensity volume	7.000000e-13
GCST011949_4	White matter hyperintensity volume (adjusted for hypertension)	1.000000e-12
GCST011952_7	White matter hyperintensity volume x hypertension interaction (2df)	5.000000e-12
GCST012580_2	White matter hyperintensities	6.000000e-09
GCST90000582_10	Spontaneous coronary artery dissection	2.000000e-06
GCST90000582_11	Spontaneous coronary artery dissection	9.000000e-06
GCST90002397_458	Mean spheric corpuscular volume	1.000000e-12

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004338	body weight
EFO:0005106	body composition measurement
EFO:0005665	white matter hyperintensity measurement
EFO:0005763	pulse pressure measurement
EFO:0010178	non-lobar intracerebral hemorrhage
EFO:0004641	white matter integrity
EFO:0007874	gut microbiome measurement
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	3
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	2
Arsenic	affects cotreatment, decreases expression, increases abundance, increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	increases expression	1
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
arsenite	decreases reaction, affects binding	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Air Pollutants	decreases expression	1
Caffeine	affects phosphorylation	1
Cisplatin	affects cotreatment, decreases expression	1
Coumestrol	affects cotreatment, decreases expression	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	increases expression	1
Hydralazine	affects cotreatment, increases expression	1
Hydrogen Peroxide	affects cotreatment, decreases expression	1
Manganese	decreases expression, increases abundance, affects cotreatment	1
Methyl Methanesulfonate	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Dronabinol	increases expression	1
Theophylline	affects cotreatment, decreases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	decreases expression	1
Antirheumatic Agents	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TA03	HAP1 NBEAL1 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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