RABGAP1L

Summary

RABGAP1L (RAB GTPase activating protein 1 like, HGNC:24663) is a protein-coding gene on chromosome 1q25.1, encoding Rab GTPase-activating protein 1-like, isoform 10 (B7ZAP0).

Enables GTPase activator activity and small GTPase binding activity. Acts upstream of or within regulation of protein localization. Located in several cellular components, including Golgi apparatus; cilium; and early endosome.

Source: NCBI Gene 9910 — RefSeq curated summary.

At a glance

• GWAS associations: 15
• Clinical variants (ClinVar): 142 total — 1 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_001366446

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24663
Approved symbol	RABGAP1L
Name	RAB GTPase activating protein 1 like
Location	1q25.1
Locus type	gene with protein product
Status	Approved
Aliases	HHL, TBC1D18, KIAA0471, FLJ38519
Ensembl gene	ENSG00000152061
Ensembl biotype	protein_coding
OMIM	609238
Entrez	9910

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 17 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000251507, ENST00000325589, ENST00000347255, ENST00000357444, ENST00000367687, ENST00000367688, ENST00000367690, ENST00000392064, ENST00000457696, ENST00000461613, ENST00000465412, ENST00000469553, ENST00000474375, ENST00000478442, ENST00000485114, ENST00000486220, ENST00000487987, ENST00000489615, ENST00000526253, ENST00000529145, ENST00000529474, ENST00000635248, ENST00000681986

RefSeq mRNA: 17 — MANE Select: NM_001366446 NM_001035230, NM_001243763, NM_001243764, NM_001243765, NM_001330989, NM_001366445, NM_001366446, NM_001366447, NM_001366448, NM_001366449, NM_001366450, NM_001366451, NM_001366452, NM_001366454, NM_001366456, NM_001366457, NM_014857

CCDS: CCDS1314, CCDS41437, CCDS55662, CCDS58046, CCDS81407, CCDS91110, CCDS91111, CCDS91112, CCDS91113, CCDS91115

Canonical transcript exons

ENST00000681986 — 26 exons

Exon	Start	End
ENSE00001445393	174219125	174219295
ENSE00001927832	174989849	174995308
ENSE00003477945	174250475	174250632
ENSE00003487654	174683522	174683596
ENSE00003495956	174220972	174221164
ENSE00003502216	174272414	174272480
ENSE00003532016	174976078	174976182
ENSE00003542894	174752313	174752354
ENSE00003553381	174988641	174988838
ENSE00003562668	174699525	174699650
ENSE00003566647	174370979	174371072
ENSE00003567059	174241483	174241657
ENSE00003582404	174304986	174305127
ENSE00003582551	174811832	174811960
ENSE00003608364	174278613	174278779
ENSE00003614706	174231145	174231355
ENSE00003615177	174969277	174969387
ENSE00003632172	174978807	174978890
ENSE00003633493	174637375	174637488
ENSE00003648182	174252480	174252590
ENSE00003661227	174957457	174957549
ENSE00003666099	174702113	174702256
ENSE00003674723	174275833	174275935
ENSE00003677231	174982834	174982905
ENSE00003784619	174393995	174394145
ENSE00003922403	174159520	174159657

Expression profiles

Bgee: expression breadth ubiquitous, 291 present calls, max score 98.02.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 56.5760 / max 3549.7246, expressed in 1810 samples.

FANTOM5 promoters (40 alternative TSS)

Promoter ID	TPM avg	Samples expressed
6758	17.3798	1782
6805	8.0234	311
6791	7.0129	489
6783	5.7506	795
6786	4.1005	537
6785	3.1579	473
6757	1.7628	863
6760	1.4948	526
6793	1.0829	196
6804	0.9422	104

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	98.02	gold quality
Brodmann (1909) area 10	UBERON:0013541	97.74	gold quality
vena cava	UBERON:0004087	97.58	gold quality
epithelium of nasopharynx	UBERON:0001951	97.46	gold quality
right atrium auricular region	UBERON:0006631	97.42	gold quality
paraflocculus	UBERON:0005351	97.07	gold quality
monocyte	CL:0000576	96.98	gold quality
mononuclear cell	CL:0000842	96.93	gold quality
substantia nigra pars compacta	UBERON:0001965	96.90	gold quality
apex of heart	UBERON:0002098	96.87	gold quality
cardiac atrium	UBERON:0002081	96.85	gold quality
leukocyte	CL:0000738	96.77	gold quality
frontal pole	UBERON:0002795	96.75	gold quality
mucosa of paranasal sinus	UBERON:0005030	96.61	gold quality
colonic epithelium	UBERON:0000397	96.41	gold quality
bronchial epithelial cell	CL:0002328	96.30	gold quality
substantia nigra pars reticulata	UBERON:0001966	96.27	gold quality
jejunal mucosa	UBERON:0000399	96.20	gold quality
heart right ventricle	UBERON:0002080	96.10	gold quality
choroid plexus epithelium	UBERON:0003911	96.00	gold quality
pigmented layer of retina	UBERON:0001782	95.97	gold quality
orbitofrontal cortex	UBERON:0004167	95.96	gold quality
Brodmann (1909) area 46	UBERON:0006483	95.88	gold quality
postcentral gyrus	UBERON:0002581	95.80	gold quality
palpebral conjunctiva	UBERON:0001812	95.64	gold quality
epithelium of bronchus	UBERON:0002031	95.50	gold quality
sural nerve	UBERON:0015488	95.38	gold quality
germinal epithelium of ovary	UBERON:0001304	95.32	gold quality
Brodmann (1909) area 23	UBERON:0013554	95.31	gold quality
parietal lobe	UBERON:0001872	95.28	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	17.50
E-MTAB-9388	yes	13.22
E-MTAB-9067	yes	4.26
E-ENAD-17	no	383.92
E-CURD-120	no	6.41

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

270 targeting RABGAP1L, 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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775

Literature-anchored findings (GeneRIF, showing 2)

• KIAA0471 mRNA expression is reduced in Alzheimer patients. (PMID:15367492)
• Deletion variants of RABGAP1L were found to be significantly associated with SLE in Korean women. (PMID:23335107)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rabgap1l2	ENSDARG00000060315
danio_rerio	rabgap1l	ENSDARG00000061757
mus_musculus	Rabgap1l	ENSMUSG00000026721
rattus_norvegicus	Rabgap1l	ENSRNOG00000002736

Paralogs (45): RABGAP1 (ENSG00000011454), TBC1D22A (ENSG00000054611), TBC1D22B (ENSG00000065491), TBC1D1 (ENSG00000065882), EVI5 (ENSG00000067208), TBC1D25 (ENSG00000068354), TBC1D2 (ENSG00000095383), TBC1D10A (ENSG00000099992), SGSM3 (ENSG00000100359), TBC1D17 (ENSG00000104946), TBC1D13 (ENSG00000107021), TBC1D12 (ENSG00000108239), TBC1D9 (ENSG00000109436), TBC1D30 (ENSG00000111490), TBC1D15 (ENSG00000121749), TBC1D5 (ENSG00000131374), TBC1D14 (ENSG00000132405), TBC1D8B (ENSG00000133138), TBC1D4 (ENSG00000136111), GRTP1 (ENSG00000139835), SGSM2 (ENSG00000141258), EVI5L (ENSG00000142459), TBCK (ENSG00000145348), USP6NL (ENSG00000148429), SGSM1 (ENSG00000167037), TBC1D21 (ENSG00000167139), TBC1D2B (ENSG00000167202), TBC1D16 (ENSG00000167291), TBC1D10B (ENSG00000169221), TBC1D10C (ENSG00000175463), TBC1D28 (ENSG00000189375), TBC1D9B (ENSG00000197226), TBC1D8 (ENSG00000204634), TBC1D26 (ENSG00000214946), TBC1D3G (ENSG00000260287), TBC1D3K (ENSG00000273513), TBC1D3H (ENSG00000274226), TBC1D3D (ENSG00000274419), TBC1D3L (ENSG00000274512), TBC1D3 (ENSG00000274611)

Protein

Protein identifiers

Rab GTPase-activating protein 1-like, isoform 10 — B7ZAP0 (reviewed: B7ZAP0, Q5R372)

All UniProt accessions (13): A0A0C4DG54, A0A0U1RQT5, A0A0U1RQV7, A0A0U1RQX4, A0A0U1RQY6, A0A0U1RRM5, A0A804HKD7, B7ZAP0, Q5R372, E9PNV2, E9PS63, F1LJ00, F5H8L0

Isoforms (10)

UniProt ID	Names	Canonical?
B7ZAP0-1	10, D	yes
Q5R372-1	1
Q5R372-2	2
Q5R372-3	3
Q5R372-4	4
Q5R372-5	5
Q5R372-6	6
Q5R372-7	7
Q5R372-8	8
Q5R372-9	9

RefSeq proteins (17): NP_001030307, NP_001230692, NP_001230693, NP_001230694, NP_001317918, NP_001353374, NP_001353375, NP_001353376, NP_001353377, NP_001353378, NP_001353379, NP_001353380, NP_001353381, NP_001353383, NP_001353385, NP_001353386, NP_055672 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000195	Rab-GAP-TBC_dom	Domain
IPR006020	PTB/PI_dom	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR022164	Kinesin-like	Domain
IPR035969	Rab-GAP_TBC_sf	Homologous_superfamily
IPR050302	Rab_GAP_TBC_domain	Family

Pfam: PF00566, PF00640, PF12473

UniProt features (57 total): helix 21, splice variant 14, region of interest 3, modified residue 3, turn 3, compositionally biased region 3, chain 2, sequence conflict 2, domain 2, site 2, coiled-coil region 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3HZJ	X-RAY DIFFRACTION	2.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-B7ZAP0-F1	86.35	0.68
AF-Q5R372-F1	76.67	0.50

Functional residue map

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

Catalytic / active sites (2): 580 (arginine finger); 621 (glutamine finger)

Post-translational modifications (3): 471, 480, 490

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 335 (showing top): BROWNE_HCMV_INFECTION_30MIN_DN, AP1_01, FREAC2_01, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GCM_ZNF198, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, RACCACAR_AML_Q6, GOBP_VESICLE_MEDIATED_TRANSPORT, GOMF_GTPASE_BINDING, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_3, ONKEN_UVEAL_MELANOMA_UP, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, KREPPEL_CD99_TARGETS_DN

GO Biological Process (3): endocytosis (GO:0006897), protein transport (GO:0015031), regulation of protein localization (GO:0032880)

GO Molecular Function (3): GTPase activator activity (GO:0005096), small GTPase binding (GO:0031267), protein binding (GO:0005515)

GO Cellular Component (8): nucleus (GO:0005634), early endosome (GO:0005769), Golgi apparatus (GO:0005794), cytoplasm (GO:0005737), endosome (GO:0005768), cilium (GO:0005929), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular protein localization	2
intracellular membrane-bounded organelle	2
cytoplasm	2
endomembrane system	2
cellular anatomical structure	2
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
transport	1
establishment of protein localization	1
regulation of localization	1
GTPase activity	1
enzyme activator activity	1
GTPase regulator activity	1
GTPase binding	1
binding	1
endosome	1
intracellular anatomical structure	1
cytoplasmic vesicle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
intracellular vesicle	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

28 interactions, top by confidence:

A	B	Type	Score
	SHTN1	psi-mi:“MI:0914”(association)	0.350
HIDE1	TMEM120B	psi-mi:“MI:0914”(association)	0.350
GYPA	HYKK	psi-mi:“MI:0914”(association)	0.350
TACSTD2	RIMOC1	psi-mi:“MI:0914”(association)	0.350
INSYN1	CCDC85C	psi-mi:“MI:0914”(association)	0.350
KRT37	ANKRD36	psi-mi:“MI:0914”(association)	0.350
CYB5A	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
LSM4	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
TRIM11	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
DLK2	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
HOXC4	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
SGF29	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
TUFT1	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
CORO1A	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
VIPR2	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
GGA1	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
RFTN2	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
SYCE1	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
BFSP1	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
RFTN1	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
ECSCR	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
EXOC1	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
ZNF365	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
HOXA4	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
NUF2	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
RABGAP1L	HOXD13	psi-mi:“MI:0914”(association)	0.350

BioGRID (169): RABGAP1L (Affinity Capture-RNA), RABGAP1L (Affinity Capture-RNA), RABGAP1L (Affinity Capture-MS), RABGAP1L (Affinity Capture-MS), RABGAP1L (Affinity Capture-MS), RABGAP1L (Affinity Capture-MS), ARFGAP1 (Two-hybrid), UQCC2 (Two-hybrid), C9orf43 (Two-hybrid), TSPAN2 (Two-hybrid), WDFY3 (Two-hybrid), ACAP1 (Two-hybrid), DBN1 (Two-hybrid), MECOM (Two-hybrid), RB1 (Two-hybrid)

ESM2 similar proteins: A4IGK3, B7ZAP0, O08609, O54941, O55047, O60519, P18847, P26801, P28574, P29596, P37285, P52161, P52162, P52164, P60762, P61244, P61245, P97875, Q07016, Q07866, Q08CW1, Q08DJ0, Q0VCP9, Q0VD32, Q13330, Q28772, Q2KII1, Q32KT0, Q32M00, Q3T0B9, Q56A18, Q5BJU6, Q5R581, Q5ZIL4, Q60765, Q62599, Q642H2, Q6PH81, Q78E65, Q7TMY4

Diamond homologs: A0A087WVF3, A0A087WXS9, A0A087X179, A0A087X1G2, A2AWA9, A3KGB4, A6H6A9, A6NDS4, A6NER0, A6QP29, B0R0W9, B7ZAP0, B9A6J9, H2KZZ6, O60343, O60447, O95759, O97790, P0C7X1, P35125, P58802, P97366, Q0IIM8, Q10496, Q12317, Q12344, Q28CB1, Q3UYK3, Q4KMP7, Q5R372, Q5RAN1, Q5RCW6, Q5SVR0, Q5TC63, Q5ZJ17, Q60949, Q66K14, Q6DHY5, Q6IPX1, Q6ZT07

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	98
Likely benign	1
Benign	4

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1322005	NM_001366446.1(RABGAP1L):c.-34+24490G>A	Likely pathogenic

SpliceAI

7542 predictions. Top by Δscore:

Variant	Effect	Δscore
1:174159654:AGAGG:A	donor_loss	1.0000
1:174159655:GAG:G	donor_gain	1.0000
1:174159657:GGTGA:G	donor_loss	1.0000
1:174159658:G:GA	donor_loss	1.0000
1:174219114:T:TA	acceptor_gain	1.0000
1:174219122:CAGGT:C	acceptor_loss	1.0000
1:174219123:A:AG	acceptor_gain	1.0000
1:174219123:AG:A	acceptor_gain	1.0000
1:174219123:AGGT:A	acceptor_gain	1.0000
1:174219123:AGGTG:A	acceptor_gain	1.0000
1:174219124:G:GA	acceptor_gain	1.0000
1:174219124:GG:G	acceptor_gain	1.0000
1:174219124:GGT:G	acceptor_gain	1.0000
1:174219124:GGTG:G	acceptor_gain	1.0000
1:174219124:GGTGG:G	acceptor_gain	1.0000
1:174219293:AAGG:A	donor_loss	1.0000
1:174219295:GG:G	donor_loss	1.0000
1:174219296:G:T	donor_loss	1.0000
1:174220968:GTAGA:G	acceptor_loss	1.0000
1:174220969:TA:T	acceptor_loss	1.0000
1:174220971:GAT:G	acceptor_gain	1.0000
1:174220971:GATA:G	acceptor_gain	1.0000
1:174221160:CACAG:C	donor_loss	1.0000
1:174221164:GGTA:G	donor_loss	1.0000
1:174221165:GTACT:G	donor_loss	1.0000
1:174221166:T:G	donor_loss	1.0000
1:174231143:A:AG	acceptor_gain	1.0000
1:174231144:G:GG	acceptor_gain	1.0000
1:174231144:GAA:G	acceptor_gain	1.0000
1:174241473:T:A	acceptor_gain	1.0000

AlphaMissense

6989 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:174272418:T:C	F331L	1.000
1:174272420:T:A	F331L	1.000
1:174272420:T:G	F331L	1.000
1:174275884:T:A	W369R	1.000
1:174275884:T:C	W369R	1.000
1:174370999:A:C	S496R	1.000
1:174371001:T:A	S496R	1.000
1:174371001:T:G	S496R	1.000
1:174371002:G:A	G497R	1.000
1:174371002:G:C	G497R	1.000
1:174371003:G:A	G497E	1.000
1:174371050:T:A	W513R	1.000
1:174371050:T:C	W513R	1.000
1:174394066:G:T	R544M	1.000
1:174394077:T:A	W548R	1.000
1:174394077:T:C	W548R	1.000
1:174637406:A:C	D581A	1.000
1:174637414:C:A	R584S	1.000
1:174637415:G:C	R584P	1.000
1:174637420:T:C	F586L	1.000
1:174637422:T:A	F586L	1.000
1:174637422:T:G	F586L	1.000
1:174637439:T:C	F592S	1.000
1:174683561:G:A	G622R	1.000
1:174683561:G:C	G622R	1.000
1:174683570:T:C	F625L	1.000
1:174683572:T:A	F625L	1.000
1:174683572:T:G	F625L	1.000
1:174683580:C:A	A628D	1.000
1:174699613:T:C	L663P	1.000

dbSNP variants (sampled 300 via entrez): RS1000004396 (1:174528035 T>C), RS1000009470 (1:174293943 A>G), RS1000013708 (1:174833152 A>G), RS1000015150 (1:174609797 T>C), RS1000015983 (1:174776761 A>G), RS1000019003 (1:174272062 A>C,G,T), RS1000019176 (1:174871029 A>G), RS1000026242 (1:174440102 A>G), RS1000029336 (1:174638312 A>T), RS1000033715 (1:174927025 A>T), RS1000034359 (1:174648283 T>G), RS1000034691 (1:174909222 GTTTT>G,GTTT,GTTTTT), RS1000044231 (1:174882323 C>G,T), RS1000044374 (1:174676500 C>T), RS1000049134 (1:174167424 A>G)

Disease associations

OMIM: gene MIM:609238 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): cholesteatoma (MONDO:0006530)

Orphanet (0):

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0009797	Cholesteatoma

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST003079_2	Cerebrospinal fluid t-tau:AB1-42 ratio	9.000000e-07
GCST003252_21	Systemic lupus erythematosus	8.000000e-06
GCST007576_5	Chronotype	4.000000e-12
GCST007938_7	Medication use (anilides)	1.000000e-09
GCST008529_13	Tea consumption	2.000000e-08
GCST010988_260	Adult body size	5.000000e-09
GCST011096_26	Systemic lupus erythematosus	5.000000e-08
GCST011124_14	Caffeine consumption from tea	2.000000e-13
GCST011126_2	Caffeine consumption from coffee or tea	1.000000e-11
GCST011494_89	Daytime nap	2.000000e-18
GCST012490_219	Femur bone mineral density x serum urate levels interaction	1.000000e-10
GCST90002398_502	Neutrophil count	2.000000e-09
GCST90002398_503	Neutrophil count	8.000000e-12
GCST90002407_14	White blood cell count	6.000000e-10
GCST90002407_15	White blood cell count	1.000000e-09

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0007708	t-tau:beta-amyloid 1-42 ratio measurement
EFO:0008328	chronotype measurement
EFO:0009938	Anilide use measurement
EFO:0010091	tea consumption measurement
EFO:0006781	coffee consumption measurement
EFO:0007828	daytime rest measurement
EFO:0004531	urate measurement
EFO:0004833	neutrophil count

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D002781	Cholesteatoma	C17.800.428.260

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs61826952	Toxicity	3	ethanol	Alcohol abuse

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs61826952	RABGAP1L	3	1.75	1	ethanol

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects expression, affects methylation, decreases expression	9
Aflatoxin B1	affects expression, affects methylation, decreases expression, increases methylation	6
Valproic Acid	affects expression, decreases expression, affects cotreatment, increases expression	4
trichostatin A	affects cotreatment, increases expression	3
sodium arsenite	increases abundance, increases expression, decreases expression	3
bisphenol A	affects cotreatment, decreases methylation, decreases expression	2
entinostat	affects cotreatment, increases expression	2
belinostat	increases expression, affects cotreatment	2
Zoledronic Acid	affects cotreatment, increases expression, decreases expression	2
Panobinostat	affects cotreatment, increases expression	2
Arsenic	affects methylation, decreases expression, increases abundance	2
Estradiol	affects expression, decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	affects expression, decreases expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
methyleugenol	decreases expression	1
pyrimidin-2-one beta-ribofuranoside	decreases expression	1
beta-lapachone	increases expression, decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	increases methylation	1
hydroquinone	decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
perfluorooctane sulfonic acid	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	decreases expression, affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01638052	PHASE2	COMPLETED	Great Auricular Nerve Block for Children Undergoing Tympanomastoid Surgery
NCT00270660	Not specified	UNKNOWN	A Study of the Clinicopathologic Behaviour of the Different Types of Unsafe Chronic Otitis Media
NCT00682409	Not specified	COMPLETED	Magnetic Resonance (MR) Imaging in the Post Operative Follow-up of Cholesteatoma in Children
NCT01855425	Not specified	COMPLETED	Cone Beam CT for Diagnosis of Select Otorhinolaryngology (ENT) Indications at Lower Dose
NCT02019888	Not specified	COMPLETED	Wide Frequency Band Test of Hearing in Veterans
NCT02903550	Not specified	UNKNOWN	Usefulness of Non EPI-DWI-MRI / CT 3D Static Co-registration Prior to Surgery of Cholesteatomas
NCT03294421	Not specified	UNKNOWN	Combined Access Closed Tympanomastoidectomy: Microsurgery Allied to Endoscopy
NCT03305796	Not specified	UNKNOWN	Detection of Cholesteatoma Using Diffusion Magnetic Resonance Imaging
NCT03915392	Not specified	UNKNOWN	Diffusion Weighted MRI Accuracy in Cholesteatoma Localization
NCT03954288	Not specified	UNKNOWN	The Serum Sclerostin Levels in Cholesteatoma Patients
NCT04959539	Not specified	COMPLETED	Endoscopic Transcanal Tympanoplasty With Attico-antrostomy Versus Endoscopic-assisted Canal Wall up Mastoidectomy in Management of Localized Cholesteatoma: A Randomized Clinical Trial
NCT05921643	Not specified	RECRUITING	Short- and Medium-term Evaluation of Mastoid Filling Using Bioactive Glass
NCT06016335	Not specified	COMPLETED	MRI-based Synthetic CT Images of the Head and Neck
NCT06268938	Not specified	ACTIVE_NOT_RECRUITING	Outcomes of Mastoid Obliteration Canal Wall Down Tympanomastoidectomy in Cholesteatoma Surgery
NCT06424704	Not specified	NOT_YET_RECRUITING	Chronic Suppurative Otitis Media Microbiology
NCT06738927	Not specified	NOT_YET_RECRUITING	Otological Study of Facial Cleft Patients Over 10 Years of Age (Excluding Isolated Cleft Lip) (EFEOF)