SDK1

Summary

SDK1 (sidekick cell adhesion molecule 1, HGNC:19307) is a protein-coding gene on chromosome 7p22.2, encoding Protein sidekick-1 (Q7Z5N4). Adhesion molecule that promotes lamina-specific synaptic connections in the retina.

The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 221935 — RefSeq curated summary.

At a glance

• GWAS associations: 36
• Clinical variants (ClinVar): 598 total
• MANE Select transcript: NM_152744

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19307
Approved symbol	SDK1
Name	sidekick cell adhesion molecule 1
Location	7p22.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ31425
Ensembl gene	ENSG00000146555
Ensembl biotype	protein_coding
OMIM	607216
Entrez	221935

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 4 retained_intron, 3 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000389531, ENST00000404826, ENST00000426596, ENST00000466611, ENST00000467827, ENST00000476701, ENST00000478527, ENST00000481856, ENST00000484011

RefSeq mRNA: 2 — MANE Select: NM_152744 NM_001079653, NM_152744

CCDS: CCDS34590

Canonical transcript exons

ENST00000404826 — 45 exons

Exon	Start	End
ENSE00001356191	3619080	3619239
ENSE00001526780	4265124	4269000
ENSE00001563366	3301252	3301884
ENSE00001594392	3974369	3974545
ENSE00001598594	4076998	4077189
ENSE00001607591	3639004	3639110
ENSE00001607932	4114037	4114274
ENSE00001611306	4049348	4049463
ENSE00001624716	4113289	4113439
ENSE00001625019	3967318	3967434
ENSE00001639369	4051638	4051830
ENSE00001641593	3821450	3821583
ENSE00001669806	4129908	4130097
ENSE00001670387	3987186	3987322
ENSE00001688566	3969257	3969424
ENSE00001690611	4110663	4110772
ENSE00001694968	4067838	4067936
ENSE00001724470	4012095	4012235
ENSE00001747520	3641958	3642105
ENSE00001751655	4127381	4127496
ENSE00001765002	4010966	4011113
ENSE00001765511	3951730	3951920
ENSE00001766367	3950923	3951034
ENSE00001785024	3958931	3959014
ENSE00001786618	4017171	4017352
ENSE00001787336	3962657	3962851
ENSE00001805913	4079463	4079584
ENSE00003459008	4175775	4175834
ENSE00003461766	4178485	4178586
ENSE00003506589	3971466	3971568
ENSE00003518260	4245676	4245805
ENSE00003521439	4174222	4174357
ENSE00003528551	4149262	4149463
ENSE00003533073	4241793	4241913
ENSE00003542575	4210025	4210162
ENSE00003551451	4205879	4205994
ENSE00003582434	4161786	4161856
ENSE00003590380	4221239	4221364
ENSE00003594439	4158448	4158551
ENSE00003598577	4220109	4220270
ENSE00003615977	4237647	4237784
ENSE00003616037	4145722	4145916
ENSE00003636223	4132325	4132423
ENSE00003654013	4233255	4233419
ENSE00003674540	4208099	4208285

Expression profiles

Bgee: expression breadth ubiquitous, 183 present calls, max score 84.30.

FANTOM5 (CAGE): breadth broad, TPM avg 4.5520 / max 149.4073, expressed in 842 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
77045	2.3825	681
77044	1.5165	519
77042	0.3072	188
77043	0.2024	100
77046	0.0933	40
77065	0.0218	9
77064	0.0192	7
77063	0.0089	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
popliteal artery	UBERON:0002250	84.30	gold quality
decidua	UBERON:0002450	84.27	gold quality
tibial artery	UBERON:0007610	84.27	gold quality
body of pancreas	UBERON:0001150	83.07	gold quality
aorta	UBERON:0000947	82.69	gold quality
sural nerve	UBERON:0015488	82.58	gold quality
islet of Langerhans	UBERON:0000006	81.97	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	81.88	gold quality
pancreas	UBERON:0001264	81.85	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.49	gold quality
descending thoracic aorta	UBERON:0002345	81.04	gold quality
thoracic aorta	UBERON:0001515	80.74	gold quality
ascending aorta	UBERON:0001496	80.68	gold quality
bronchial epithelial cell	CL:0002328	79.99	gold quality
oviduct epithelium	UBERON:0004804	79.87	gold quality
right coronary artery	UBERON:0001625	79.63	gold quality
bronchus	UBERON:0002185	78.93	gold quality
cortical plate	UBERON:0005343	78.69	gold quality
ventricular zone	UBERON:0003053	78.61	gold quality
endocervix	UBERON:0000458	78.44	gold quality
mucosa of stomach	UBERON:0001199	78.32	gold quality
right testis	UBERON:0004534	77.67	gold quality
left testis	UBERON:0004533	77.56	gold quality
left coronary artery	UBERON:0001626	77.38	gold quality
spleen	UBERON:0002106	77.31	gold quality
right lung	UBERON:0002167	76.84	gold quality
saphenous vein	UBERON:0007318	76.73	gold quality
synovial joint	UBERON:0002217	76.50	silver quality
coronary artery	UBERON:0001621	76.36	gold quality
endometrium	UBERON:0001295	76.27	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-119	yes	1938.75
E-HCAD-25	yes	42.20
E-ANND-3	yes	6.67
E-GEOD-83139	yes	3.79

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

237 targeting SDK1, 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-6758-5P	100.00	66.21	1470
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4673	100.00	66.64	1490
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-3667-3P	99.99	67.17	1636
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-12136	99.98	72.81	5713
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-6891-5P	99.98	66.53	1372

Literature-anchored findings (GeneRIF, showing 6)

• dysregulation of sdk-1 protein may play an important role in HIV-associated nephropathy pathogenesis (PMID:15213259)
• SDK1 may be a susceptibility gene for hypertension in Japanese individuals, although the functional relevance of the identified polymorphism was not determined. (PMID:19851296)
• Data conclude that the up-regulation of sdk-1 in podocytes is an important pathogenic factor in glomerulosclerosis and that the mechanism involves disruption of the actin cytoskeleton possibly via alterations in MAGI-1 function. (PMID:20562105)
• Case-control studies reveal malignant mesothelioma risk associated with variants in the SDK1, CRTAM and RASGRF2 genes. (PMID:23827383)
• SDK1 could possibly serve as a candidate gene for alterations associated with asbestos exposure. (PMID:26463840)
• Novel loci for ocular axial length identified through extreme-phenotype genome-wide association study in Chinese populations. (PMID:37524447)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	sdk1a	ENSDARG00000078866
mus_musculus	Sdk1	ENSMUSG00000039683
rattus_norvegicus	Sdk1	ENSRNOG00000001103

Paralogs (36): CNTN1 (ENSG00000018236), CDON (ENSG00000064309), NEO1 (ENSG00000067141), SDK2 (ENSG00000069188), IGSF9B (ENSG00000080854), IGSF9 (ENSG00000085552), NRCAM (ENSG00000091129), MXRA5 (ENSG00000101825), IGDCC4 (ENSG00000103742), CNTN3 (ENSG00000113805), IGSF21 (ENSG00000117154), CNTN6 (ENSG00000134115), CHL1 (ENSG00000134121), PTPRQ (ENSG00000139304), CNTN4 (ENSG00000144619), BOC (ENSG00000144857), HMCN2 (ENSG00000148357), NCAM1 (ENSG00000149294), CNTN5 (ENSG00000149972), IGSF10 (ENSG00000152580), ROBO4 (ENSG00000154133), ROBO3 (ENSG00000154134), NCAM2 (ENSG00000154654), VCAM1 (ENSG00000162692), NFASC (ENSG00000163531), PRTG (ENSG00000166450), ROBO1 (ENSG00000169855), DSCAM (ENSG00000171587), IGDCC3 (ENSG00000174498), VSIG10 (ENSG00000176834), DSCAML1 (ENSG00000177103), CNTN2 (ENSG00000184144), ROBO2 (ENSG00000185008), VSIG10L (ENSG00000186806), DCC (ENSG00000187323), L1CAM (ENSG00000198910)

Protein

Protein identifiers

Protein sidekick-1 — Q7Z5N4 (reviewed: Q7Z5N4)

All UniProt accessions (3): Q7Z5N4, F8W6X9, H7C255

UniProt curated annotations — full annotation on UniProt →

Function. Adhesion molecule that promotes lamina-specific synaptic connections in the retina. Expressed in specific subsets of interneurons and retinal ganglion cells (RGCs) and promotes synaptic connectivity via homophilic interactions.

Subunit / interactions. Homodimer; mediates homophilic interactions to promote cell adhesion.

Subcellular location. Cell membrane. Synapse.

Tissue specificity. Up-regulated in glomeruli in HIV-associated nephropathy. In diseased glomeruli, significantly overexpressed and the expression is no longer restricted to mesangial cells but includes podocytes and parietal epithelial cells.

Domain organisation. Ig-like C2-type domains 1 and 2 mediate homophilic interactions.

Miscellaneous. Dysregulation of this protein may play an important role in podocyte dysfunction in HIV-associated nephropathy.

Similarity. Belongs to the sidekick family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q7Z5N4-1	1	yes
Q7Z5N4-2	2
Q7Z5N4-3	3

RefSeq proteins (1): NP_689957* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR003961	FN3_dom	Domain
IPR007110	Ig-like_dom	Domain
IPR013098	Ig_I-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036116	FN3_sf	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR050964	Striated_Muscle_Regulatory	Family

Pfam: PF00041, PF07679, PF13927

UniProt features (61 total): domain 19, glycosylation site 19, disulfide bond 5, sequence conflict 4, splice variant 3, topological domain 2, region of interest 2, sequence variant 2, signal peptide 1, chain 1, short sequence motif 1, compositionally biased region 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z5N4-F1	72.92	0.09

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 (5): 126–169, 315–362, 408–458, 501–553, 595–647

Glycosylation sites (19): 271, 301, 550, 563, 572, 655, 679, 782, 821, 882, 1015, 1024, 1282, 1333, 1654, 1748, 1767, 1819, 1893

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-373756	SDK interactions
R-HSA-1500931	Cell-Cell communication
R-HSA-421270	Cell-cell junction organization
R-HSA-446728	Cell junction organization

MSigDB gene sets: 169 (showing top): GOBP_DENDRITE_DEVELOPMENT, AGGAAGC_MIR5163P, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_BEHAVIOR, GOBP_RESPONSE_TO_COCAINE, GOBP_SYNAPSE_ASSEMBLY, GOBP_ADULT_BEHAVIOR, GOZGIT_ESR1_TARGETS_DN, GOBP_DENDRITIC_SPINE_DEVELOPMENT, GOBP_NEUROGENESIS, TGACCTY_ERR1_Q2, GOBP_NEURAL_RETINA_DEVELOPMENT, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, chr7p22, GOBP_CELL_CELL_ADHESION

GO Biological Process (6): homophilic cell-cell adhesion (GO:0007156), synapse assembly (GO:0007416), retina layer formation (GO:0010842), behavioral response to cocaine (GO:0048148), regulation of dendritic spine development (GO:0060998), cell adhesion (GO:0007155)

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (3): plasma membrane (GO:0005886), synapse (GO:0045202), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Cell-cell junction organization	1
Cell junction organization	1
Cell-Cell communication	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell-cell adhesion	1
nervous system development	1
cell junction assembly	1
synapse organization	1
neural retina development	1
anatomical structure formation involved in morphogenesis	1
retina morphogenesis in camera-type eye	1
adult behavior	1
response to cocaine	1
regulation of developmental process	1
dendritic spine development	1
cellular process	1
protein binding	1
binding	1
membrane	1
cell periphery	1
cell junction	1
cellular anatomical structure	1

Protein interactions and networks

STRING

762 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SDK1	OR2V2	Q96R30	580
SDK1	INTS2	Q9H0H0	390
SDK1	DRICH1	Q6PGQ1	380
SDK1	CACHD1	Q5VU97	379
SDK1	SLC45A4	Q5BKX6	364
SDK1	KY	Q8NBH2	357
SDK1	SPATA31D1	Q6ZQQ2	356
SDK1	SLC35F1	Q5T1Q4	348
SDK1	BICC1	Q9H694	345
SDK1	PTPRN2	Q92932	324
SDK1	PMPCB	O75439	312
SDK1	ZSWIM4	Q9H7M6	310
SDK1	ZNF516	Q92618	303
SDK1	MOSPD1	Q9UJG1	302
SDK1	ZC2HC1A	Q96GY0	301

IntAct

16 interactions, top by confidence:

A	B	Type	Score
LGALS1	PODXL	psi-mi:“MI:0914”(association)	0.530
LGALS3	PODXL	psi-mi:“MI:0914”(association)	0.530
TMX1	NRP1	psi-mi:“MI:0914”(association)	0.530
PRPF40A	SDK1	psi-mi:“MI:0915”(physical association)	0.370
KIE-1	NCOA2	psi-mi:“MI:0914”(association)	0.350
MYC	PDZD2	psi-mi:“MI:0914”(association)	0.350
HCN1	USP27X	psi-mi:“MI:0914”(association)	0.350
LGALS8	SLC22A23	psi-mi:“MI:0914”(association)	0.350
KCNE3	PIK3R2	psi-mi:“MI:0914”(association)	0.350
RYK	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
MFSD10	NDUFS8	psi-mi:“MI:0914”(association)	0.350
MFSD14A	FAM171A2	psi-mi:“MI:0914”(association)	0.350
KCNK3	ESYT2	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (28): SDK1 (Affinity Capture-MS), SDK1 (Affinity Capture-MS), SDK1 (Affinity Capture-MS), SDK1 (Affinity Capture-MS), SDK1 (Affinity Capture-MS), SDK1 (Affinity Capture-RNA), SDK1 (Protein-RNA), SDK1 (Affinity Capture-RNA), SDK1 (Proximity Label-MS), SDK1 (Proximity Label-MS), SDK1 (Proximity Label-MS), SDK1 (Proximity Label-MS), SDK1 (Affinity Capture-MS), SDK1 (Affinity Capture-MS), SDK1 (Affinity Capture-MS)

ESM2 similar proteins: A0A6I8TCE0, B0X4T2, F1NY98, O00533, O35158, O55005, O60469, O89026, O97394, P12960, P14781, P16092, P17790, P18460, P18461, P21802, P21803, P28685, P29074, P35331, P35832, P57097, P70232, P97686, Q12860, Q12866, Q28106, Q32MD9, Q3UH53, Q4KMG0, Q60805, Q61851, Q63198, Q7Z5N4, Q7ZXX1, Q810U4, Q8AV58, Q8AXZ4, Q8JG38, Q8VHZ8

Diamond homologs: A2A863, A5Z1X6, B0FYY4, O08680, O54890, O70309, P05106, P05107, P05556, P07228, P09055, P11584, P11835, P12606, P12607, P16144, P18084, P18563, P18564, P26010, P26011, P26012, P29319, P29320, P32592, P49134, P53712, P53713, P53714, P80747, Q07409, Q07441, Q09062, Q0VBD0, Q1RPR6, Q27591, Q27874, Q2VJ42, Q3UH53, Q3UV74

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	471
Likely benign	50
Benign	15

Top pathogenic / likely-pathogenic (0)

SpliceAI

6011 predictions. Top by Δscore:

Variant	Effect	Δscore
7:3437079:T:G	acceptor_gain	1.0000
7:3619209:G:GG	donor_gain	1.0000
7:3619232:GAATA:G	donor_gain	1.0000
7:3619236:A:AG	donor_gain	1.0000
7:3619240:G:GG	donor_gain	1.0000
7:3639095:G:GT	donor_gain	1.0000
7:3639099:TTC:T	donor_gain	1.0000
7:3639105:TCGC:T	donor_gain	1.0000
7:3639107:GCAT:G	donor_gain	1.0000
7:3639111:G:GG	donor_gain	1.0000
7:3639117:GTACA:G	donor_gain	1.0000
7:3639122:G:GG	donor_gain	1.0000
7:3639163:G:GT	donor_gain	1.0000
7:3639163:G:T	donor_gain	1.0000
7:3641953:TGCAG:T	acceptor_loss	1.0000
7:3641954:GCAG:G	acceptor_loss	1.0000
7:3641955:CAG:C	acceptor_loss	1.0000
7:3641956:AGAT:A	acceptor_loss	1.0000
7:3642102:GAAT:G	donor_gain	1.0000
7:3642106:G:GG	donor_gain	1.0000
7:3734349:G:GT	donor_gain	1.0000
7:3821442:T:A	acceptor_gain	1.0000
7:3821448:A:AG	acceptor_gain	1.0000
7:3821449:G:GG	acceptor_gain	1.0000
7:3821449:GA:G	acceptor_gain	1.0000
7:3821449:GAGCC:G	acceptor_gain	1.0000
7:3821580:GCAA:G	donor_gain	1.0000
7:3821584:G:GG	donor_gain	1.0000
7:3301881:CAAG:C	donor_loss	0.9900
7:3301882:AAG:A	donor_loss	0.9900

AlphaMissense

14287 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:4012180:T:A	W789R	1.000
7:4012180:T:C	W789R	1.000
7:4012182:G:C	W789C	1.000
7:4012182:G:T	W789C	1.000
7:4113291:T:C	F1146S	1.000
7:4113294:G:C	R1147P	1.000
7:4132387:T:A	W1398R	1.000
7:4132387:T:C	W1398R	1.000
7:3619193:T:A	W138R	0.999
7:3619193:T:C	W138R	0.999
7:3619195:G:C	W138C	0.999
7:3619195:G:T	W138C	0.999
7:3639050:T:C	C169R	0.999
7:3642065:T:A	W225R	0.999
7:3642065:T:C	W225R	0.999
7:3951755:T:A	W329R	0.999
7:3951755:T:C	W329R	0.999
7:3951757:G:C	W329C	0.999
7:3951757:G:T	W329C	0.999
7:3962680:T:A	W420R	0.999
7:3962680:T:C	W420R	0.999
7:3967425:T:A	W513R	0.999
7:3967425:T:C	W513R	0.999
7:3974376:T:A	W609R	0.999
7:3974376:T:C	W609R	0.999
7:3974378:G:C	W609C	0.999
7:3974378:G:T	W609C	0.999
7:3987259:T:A	W690R	0.999
7:3987259:T:C	W690R	0.999
7:4011059:G:C	R742P	0.999

dbSNP variants (sampled 300 via entrez): RS1000000010 (7:3688041 T>TC), RS1000004644 (7:4016084 G>A), RS1000010863 (7:3574967 T>C), RS1000012256 (7:4080699 G>C), RS1000016186 (7:3682837 C>G), RS1000016191 (7:3915249 T>G), RS1000022109 (7:3713868 A>T), RS1000022931 (7:4113873 G>T), RS1000024899 (7:3621866 C>T), RS1000027945 (7:3552262 C>T), RS1000027971 (7:3331958 G>A), RS1000028946 (7:3948888 A>G), RS1000029947 (7:3648879 C>T), RS1000030555 (7:3452241 C>G), RS1000030580 (7:3377581 C>A,G,T)

Disease associations

OMIM: gene MIM:607216 | disease phenotypes:

GenCC curated gene-disease

Mondo (3): prostate cancer (MONDO:0008315), megacolon (MONDO:0001273), autism spectrum disorder (MONDO:0005258)

Orphanet (2): Familial prostate cancer (Orphanet:1331), NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

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

GWAS associations

36 associations (top):

Study	Trait	p-value
GCST000337_28	Quantitative traits	1.000000e-06
GCST001762_425	Obesity-related traits	4.000000e-06
GCST002759_19	Motion sickness	9.000000e-11
GCST002759_35	Motion sickness	3.000000e-08
GCST002984_2	Early childhood aggressive behavior	1.000000e-06
GCST003075_129	Cognitive decline rate in late mild cognitive impairment	1.000000e-06
GCST003075_20	Cognitive decline rate in late mild cognitive impairment	6.000000e-07
GCST003942_1	Acute graft versus host disease in bone marrow transplantation (donor effect)	2.000000e-08
GCST004858_1	Dupuytren’s disease	1.000000e-15
GCST004938_3	Liver fibrosis in pediatric non-alcoholic fatty acid liver disease	6.000000e-06
GCST005359_13	Disease progression in age-related macular degeneration	4.000000e-06
GCST005760_2	Dimensional psychopathology (Cognitive)	1.000000e-07
GCST006421_3	Cannabis use	3.000000e-08
GCST006484_21	Type 2 diabetes	9.000000e-07
GCST006665_9	Social science traits (pleiotropy) (HIPO component 1)	1.000000e-08
GCST007323_76	Risk-taking tendency (4-domain principal component model)	1.000000e-10
GCST007324_98	Adventurousness	7.000000e-09
GCST007327_106	Smoking status (ever vs never smokers)	5.000000e-10
GCST007327_216	Smoking status (ever vs never smokers)	6.000000e-14
GCST007603_40	Smoking initiation	9.000000e-11
GCST008176_2	Gestational age at birth (child effect)	2.000000e-06
GCST008179_20	Moderate-to-late spontaneous preterm birth	3.000000e-06
GCST008310_7	Cardiac Troponin-T levels	5.000000e-07
GCST008512_19	Multisite chronic pain	3.000000e-08
GCST008559_5	Anxiety and stress-related disorders	1.000000e-07
GCST008810_74	Smoking initiation (ever regular vs never regular)	6.000000e-11
GCST008832_8	Gastroesophageal reflux disease	5.000000e-09
GCST010121_6	Ceramide levels (C24:0)	1.000000e-06
GCST010122_4	Ceramide levels (C22:0)	7.000000e-08
GCST010397_79	Gut microbiota (bacterial taxa, rank normal transformation method)	7.000000e-06

EFO canonical traits (23, from GWAS)

EFO ID	Trait name
EFO:0004620	vitamin B12 measurement
EFO:0006928	motion sickness
EFO:0007710	cognitive decline measurement
EFO:0004599	acute graft vs. host disease
EFO:0007892	donor genotype effect measurement
EFO:0004229	Dupuytren Contracture
EFO:0008336	disease progression measurement
EFO:0009098	cognitive domain measurement
EFO:0007585	Cannabis use
EFO:0007006	depressive symptom measurement
EFO:0007660	neuroticism measurement
EFO:0007869	wellbeing measurement
EFO:0008579	risk-taking behaviour
EFO:0004318	smoking behavior
EFO:0005670	smoking initiation
EFO:0005112	gestational age
EFO:0006917	spontaneous preterm birth
EFO:0005043	cardiac troponin T measurement
EFO:0010100	multisite chronic pain
EFO:0010098	stress-related disorder
EFO:0007874	gut microbiome measurement
EFO:0009749	age at first sexual intercourse measurement
EFO:0009101	age at first birth measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008531	Megacolon	C06.405.469.158.701
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs34912216	SDK1		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	7
Benzo(a)pyrene	affects methylation, decreases expression, increases mutagenesis	6
Aflatoxin B1	affects methylation, decreases expression	4
lasiocarpine	decreases expression	2
methyleugenol	decreases expression	2
N-Nitrosopyrrolidine	decreases expression	2
Testosterone	affects cotreatment, increases expression	2
aristolochic acid I	decreases expression	1
bisphenol A	affects methylation, affects cotreatment	1
mono-(2-ethylhexyl)phthalate	increases abundance, increases methylation	1
benzo(e)pyrene	affects methylation, increases methylation	1
aflatoxin B2	increases methylation	1
CGP 52608	increases reaction, affects binding	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	decreases methylation	1
jinfukang	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, affects methylation, increases methylation	1
Acetaminophen	decreases expression	1
Arsenic	affects methylation	1
Calcitriol	increases expression, affects cotreatment	1
Cisplatin	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	increases abundance, increases methylation	1
Methapyrilene	affects methylation, increases methylation	1
Nickel	increases expression	1
Phenylmercuric Acetate	affects cotreatment, increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	PHASE4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer