PCDH1

Summary

PCDH1 (protocadherin 1, HGNC:8655) is a protein-coding gene on chromosome 5q31.3, encoding Protocadherin-1 (Q08174). May be involved in cell-cell interaction processes and in cell adhesion.

This gene belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at cell-cell boundaries. It is involved in neural cell adhesion, suggesting a possible role in neuronal development. The protein includes an extracelllular region, containing 7 cadherin-like domains, a transmembrane region and a C-terminal cytoplasmic region. Cells expressing the protein showed cell aggregation activity. Alternative splicing occurs in this gene.

Source: NCBI Gene 5097 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 158 total — 1 likely-pathogenic
• MANE Select transcript: NM_032420

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8655
Approved symbol	PCDH1
Name	protocadherin 1
Location	5q31.3
Locus type	gene with protein product
Status	Approved
Aliases	pc42
Ensembl gene	ENSG00000156453
Ensembl biotype	protein_coding
OMIM	603626
Entrez	5097

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 5 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000287008, ENST00000357517, ENST00000394536, ENST00000503492, ENST00000505937, ENST00000511044, ENST00000514773, ENST00000515351

RefSeq mRNA: 4 — MANE Select: NM_032420 NM_001278613, NM_001278615, NM_002587, NM_032420

CCDS: CCDS4267, CCDS43375

Canonical transcript exons

ENST00000287008 — 5 exons

Exon	Start	End
ENSE00001026561	141863232	141865427
ENSE00001660689	141857252	141857471
ENSE00001805589	141853090	141854436
ENSE00002079876	141878223	141878410
ENSE00003485169	141868569	141869431

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 95.61.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.6167 / max 173.3679, expressed in 1030 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
63870	7.3822	972
63871	0.5678	361
63869	0.2271	121
63868	0.1775	71
63872	0.1443	69
63873	0.1130	27
63866	0.0049	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	95.61	gold quality
pharyngeal mucosa	UBERON:0000355	93.26	gold quality
type B pancreatic cell	CL:0000169	93.10	silver quality
mucosa of transverse colon	UBERON:0004991	92.48	gold quality
right lung	UBERON:0002167	92.08	gold quality
esophagus mucosa	UBERON:0002469	91.98	gold quality
minor salivary gland	UBERON:0001830	90.70	gold quality
tongue squamous epithelium	UBERON:0006919	90.60	gold quality
saliva-secreting gland	UBERON:0001044	90.51	gold quality
upper arm skin	UBERON:0004263	90.49	gold quality
apex of heart	UBERON:0002098	90.45	gold quality
olfactory bulb	UBERON:0002264	90.39	gold quality
upper lobe of left lung	UBERON:0008952	90.39	gold quality
islet of Langerhans	UBERON:0000006	90.33	gold quality
mouth mucosa	UBERON:0003729	90.20	gold quality
skin of leg	UBERON:0001511	90.13	gold quality
upper lobe of lung	UBERON:0008948	90.07	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	89.98	gold quality
body of tongue	UBERON:0011876	89.80	gold quality
nipple	UBERON:0002030	89.77	gold quality
body of stomach	UBERON:0001161	89.13	gold quality
skin of abdomen	UBERON:0001416	88.99	gold quality
vena cava	UBERON:0004087	88.85	silver quality
transverse colon	UBERON:0001157	88.71	gold quality
prefrontal cortex	UBERON:0000451	88.59	gold quality
stomach	UBERON:0000945	88.24	gold quality
zone of skin	UBERON:0000014	88.01	gold quality
rectum	UBERON:0001052	87.75	gold quality
triceps brachii	UBERON:0001509	87.52	silver quality
pylorus	UBERON:0001166	87.50	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.48
E-CURD-53	no	153.32
E-MTAB-6678	no	2.43

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

61 targeting PCDH1, 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-4692	100.00	67.32	2066
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-4802-3P	99.72	70.13	1273
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-3191-3P	99.45	63.94	356
HSA-MIR-128-1-5P	99.33	60.46	332
HSA-MIR-128-2-5P	99.33	60.83	311
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-6071	99.16	67.77	1780
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-625-5P	99.02	68.64	2031
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-4742-5P	98.89	68.41	1542
HSA-MIR-887-5P	98.82	65.90	1347
HSA-MIR-6846-5P	98.81	65.86	1121
HSA-MIR-6848-5P	98.81	65.49	1126
HSA-MIR-7113-3P	98.75	65.71	1120
HSA-MIR-3945	98.68	64.21	553
HSA-MIR-4725-5P	98.67	65.42	628
HSA-MIR-504-5P	98.67	65.40	631

Literature-anchored findings (GeneRIF, showing 11)

• PCDH1 is a novel gene for BHR in adults and children. Its identification as a BHR susceptibility gene may suggest that a structural defect in the integrity of the airway epithelium and contributes to the development of BHR. (PMID:19729670)
• PCDH1 gene variant IVS3-116 associates with eczema in two independent birth cohorts in Netherlands. (PMID:21929597)
• PCDH1 transcripts display remarkable variability in expression of conserved intracellular signaling domains; enhanced PCDH1 expression levels strongly correlate with differentiation of bronchial epithelial cells. (PMID:21982948)
• genetic polymorphism is associated with subphenotypes of asthma in German children (PMID:23050600)
• Common variations in PCDH1 increase the risk of developing both transient early asthma and atopic dermatitis in early childhood (PMID:23988763)
• PCDH1 and SMAD3 act in a single pathway in asthma susceptibility that affects sensitivity of the airway epithelium to TGF-beta. (PMID:26209277)
• PCDH1 is important for airway function as a physical barrier, and its dysfunction is involved in the pathogenesis of allergic airway inflammation. (PMID:26227965)
• Results show that PCDH1 is localized to the cell membrane of bronchial epithelial cells basolateral to the adherens junction. Its expression is not reduced nor delocalized in asthma even though PCDH1 contributes to homotypic adhesion, epithelial barrier formation and repair. (PMID:27701444)
• identification of the human asthma-associated gene protocadherin-1 as an essential determinant of entry and infection in pulmonary endothelial cells by two hantaviruses that cause hantavirus pulmonary syndrome, Andes virus and Sin Nombre virus; the surface glycoproteins of ANDV and SNV directly recognize the outermost extracellular repeat domain of PCDH1-a member of the cadherin superfamily–to exploit PCDH1 for entry (PMID:30464266)
• PCDH1 promotes progression of pancreatic ductal adenocarcinoma via activation of NF-kappaB signalling by interacting with KPNB1. (PMID:35864095)
• Insight into the Interplay of Gd-IgA1, HMGB1, RAGE and PCDH1 in IgA Vasculitis (IgAV). (PMID:38673968)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	pcdh1b	ENSDARG00000036175
danio_rerio	pcdh1a	ENSDARG00000062720
mus_musculus	Pcdh1	ENSMUSG00000051375
rattus_norvegicus	Pcdh1	ENSRNOG00000060410

Paralogs (33): CDH1 (ENSG00000039068), CDH10 (ENSG00000040731), CDH3 (ENSG00000062038), CDH19 (ENSG00000071991), CDHR2 (ENSG00000074276), CDH17 (ENSG00000079112), CDH7 (ENSG00000081138), PCDH11Y (ENSG00000099715), CDHR5 (ENSG00000099834), CDH20 (ENSG00000101542), PCDH11X (ENSG00000102290), CDH23 (ENSG00000107736), CDH9 (ENSG00000113100), CDH6 (ENSG00000113361), CDH26 (ENSG00000124215), CDHR3 (ENSG00000128536), CDH15 (ENSG00000129910), CDH24 (ENSG00000139880), CDH11 (ENSG00000140937), CDH13 (ENSG00000140945), CDH18 (ENSG00000145526), CDHR1 (ENSG00000148600), CDH22 (ENSG00000149654), CDH8 (ENSG00000150394), CDH12 (ENSG00000154162), DCHS1 (ENSG00000166341), PCDH7 (ENSG00000169851), CDH2 (ENSG00000170558), CDH4 (ENSG00000179242), CDH5 (ENSG00000179776), PCDH9 (ENSG00000184226), DCHS2 (ENSG00000197410), PCDH20 (ENSG00000280165)

Protein

Protein identifiers

Protocadherin-1 — Q08174 (reviewed: Q08174)

Alternative names: Cadherin-like protein 1, Protocadherin-42

All UniProt accessions (5): Q08174, D6RAX3, D6RBG2, H0Y9F5, H0Y9I5

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in cell-cell interaction processes and in cell adhesion.

Subcellular location. Cell junction. Cell membrane.

Tissue specificity. Highly expressed in the brain and neuro-glial cells.

Isoforms (2)

UniProt ID	Names	Canonical?
Q08174-1	1	yes
Q08174-2	2, PC42-8

RefSeq proteins (2): NP_002578, NP_115796* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002126	Cadherin-like_dom	Domain
IPR013164	Cadherin_N	Domain
IPR013585	Protocadherin	Domain
IPR015919	Cadherin-like_sf	Homologous_superfamily
IPR020894	Cadherin_CS	Conserved_site
IPR050174	Protocadherin/Cadherin-CA	Family

Pfam: PF00028, PF08266, PF08374

UniProt features (83 total): strand 33, domain 7, helix 7, turn 7, glycosylation site 6, compositionally biased region 5, modified residue 5, sequence variant 3, sequence conflict 3, topological domain 2, signal peptide 1, chain 1, region of interest 1, splice variant 1, transmembrane region 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
6BX7	X-RAY DIFFRACTION	2.85
6PIM	X-RAY DIFFRACTION	3.05
6MGA	X-RAY DIFFRACTION	3.15
6VFP	X-RAY DIFFRACTION	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q08174-F1	76.30	0.44

Functional residue map

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

Post-translational modifications (5): 918, 949, 962, 984, 1173

Glycosylation sites (6): 305, 403, 618, 662, 813, 818

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 141 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, AHRARNT_01, MODULE_92, MODULE_418, TAL1ALPHAE47_01, RODRIGUES_NTN1_TARGETS_DN, GOBP_CELL_CELL_SIGNALING, GOBP_CELL_CELL_ADHESION, BROWNE_HCMV_INFECTION_48HR_DN, TCF4_Q5, MYOD_01, MYOD_Q6, PETROVA_ENDOTHELIUM_LYMPHATIC_VS_BLOOD_DN, RYTTCCTG_ETS2_B, MEDINA_SMARCA4_TARGETS

GO Biological Process (4): cell adhesion (GO:0007155), homophilic cell-cell adhesion (GO:0007156), cell-cell signaling (GO:0007267), nervous system development (GO:0007399)

GO Molecular Function (2): calcium ion binding (GO:0005509), cell adhesion molecule binding (GO:0050839)

GO Cellular Component (7): nucleoplasm (GO:0005654), nucleolus (GO:0005730), plasma membrane (GO:0005886), cell-cell junction (GO:0005911), cell junction (GO:0030054), membrane (GO:0016020), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
nuclear lumen	2
cellular process	1
cell-cell adhesion	1
cell communication	1
signaling	1
system development	1
metal ion binding	1
protein binding	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1
anchoring junction	1
cell junction	1

Protein interactions and networks

STRING

756 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PCDH1	VEZT	Q9HBM0	563
PCDH1	LIN7A	O14910	550
PCDH1	CLDN4	O14493	498
PCDH1	CTNNA1	P35221	493
PCDH1	MPDZ	O75970	490
PCDH1	PCDH10	Q9P2E7	486
PCDH1	CLDN5	O00501	457
PCDH1	CDH19	Q9H159	453
PCDH1	CDH6	P55285	453
PCDH1	C1QBP	Q07021	450
PCDH1	GJA1	P17302	447
PCDH1	TJP1	Q07157	438
PCDH1	ORMDL3	Q8N138	437
PCDH1	MGAT5B	Q3V5L5	426
PCDH1	DCHS1	Q96JQ0	423

IntAct

74 interactions, top by confidence:

A	B	Type	Score
PRSS22	PPM1A	psi-mi:“MI:0914”(association)	0.560
CLEC4A	SEMA7A	psi-mi:“MI:0914”(association)	0.530
CD70	METTL15	psi-mi:“MI:0914”(association)	0.530
CDH8	ARVCF	psi-mi:“MI:0914”(association)	0.530
IL1R2	EXOC5	psi-mi:“MI:0914”(association)	0.530
SPSB2	ARHGEF10	psi-mi:“MI:0914”(association)	0.530
PVR	ORC4	psi-mi:“MI:0914”(association)	0.530
SPSB4	ARHGEF10	psi-mi:“MI:0914”(association)	0.530
CD4	PCDH1	psi-mi:“MI:0915”(physical association)	0.400
KIR3DL1	PCDH1	psi-mi:“MI:0915”(physical association)	0.400
PCDH1	bipA	psi-mi:“MI:0915”(physical association)	0.370
SMAD3	PCDH1	psi-mi:“MI:0915”(physical association)	0.370
ATF7IP	PCDH1	psi-mi:“MI:0915”(physical association)	0.370
PCDH1	DBI	psi-mi:“MI:0914”(association)	0.350
ALB	SH3BP5	psi-mi:“MI:0914”(association)	0.350
DCAF4	IGLL5	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
CACNA1C	DISP2	psi-mi:“MI:0914”(association)	0.350
SPSB4	CCDC85C	psi-mi:“MI:0914”(association)	0.350
GPM6A	KIF2A	psi-mi:“MI:0914”(association)	0.350
RYK	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
PCDHB7	TMEM131L	psi-mi:“MI:0914”(association)	0.350
UPK2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
LY86	TMEM131L	psi-mi:“MI:0914”(association)	0.350
SGCA	TMEM131L	psi-mi:“MI:0914”(association)	0.350
DKKL1	VWA8	psi-mi:“MI:0914”(association)	0.350
CD48	POTEF	psi-mi:“MI:0914”(association)	0.350
CLEC4A		psi-mi:“MI:0914”(association)	0.350

BioGRID (75): ABCA2 (Affinity Capture-MS), DBI (Affinity Capture-MS), SSFA2 (Affinity Capture-MS), GTF3C3 (Affinity Capture-MS), TRIB1 (Affinity Capture-MS), ZNFX1 (Affinity Capture-MS), CWF19L2 (Affinity Capture-MS), PCDH1 (Proximity Label-MS), PCDH1 (Affinity Capture-RNA), PCDH1 (Proximity Label-MS), PCDH1 (Proximity Label-MS), PCDH1 (Affinity Capture-RNA), PCDH1 (Affinity Capture-MS), PCDH1 (Affinity Capture-MS), PCDH1 (Affinity Capture-MS)

ESM2 similar proteins: B0KW95, B2KI42, B4USZ0, F1PAA9, O02840, O60330, P08641, P09803, P10287, P10288, P12830, P15116, P19022, P19534, P19535, P20310, P22223, P24503, P26009, P33145, P33147, P33148, P33150, P33151, P33152, P39038, P53708, P55283, P55284, P79883, Q08174, Q5DRB7, Q5DRB8, Q5DRC0, Q5DRC2, Q5R9X1, Q5RAX1, Q6R8F2, Q6URK6, Q90275

Diamond homologs: A0A8M2BIB6, B0KW95, B2KI42, B4USZ0, F1PAA9, H2EQR6, O18926, O35902, O55075, O55111, O88277, P08641, P09803, P10287, P10288, P12830, P15116, P19022, P19534, P19535, P20310, P22223, P24503, P30944, P32926, P33145, P33146, P33147, P33148, P33150, P33152, P33545, P39038, P55283, P55290, P55291, P55292, P55849, P55850, P79883

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 106 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
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	9	11.1×	5e-05

GO biological processes:

GO term	Partners	Fold	FDR
immune response	16	7.6×	2e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	143
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
916566	NM_032420.5(PCDH1):c.353A>G (p.Glu118Gly)	Likely pathogenic

SpliceAI

1142 predictions. Top by Δscore:

Variant	Effect	Δscore
5:141854432:AAGGT:A	acceptor_gain	1.0000
5:141854433:AGGT:A	acceptor_gain	1.0000
5:141854434:GGT:G	acceptor_gain	1.0000
5:141854435:GT:G	acceptor_gain	1.0000
5:141854436:TC:T	acceptor_loss	1.0000
5:141854437:C:CC	acceptor_gain	1.0000
5:141854437:CT:C	acceptor_loss	1.0000
5:141854439:G:C	acceptor_gain	1.0000
5:141857246:CCTCA:C	donor_loss	1.0000
5:141857247:CTCAC:C	donor_loss	1.0000
5:141857249:CACC:C	donor_loss	1.0000
5:141857250:ACCA:A	donor_loss	1.0000
5:141857251:CCATT:C	donor_gain	1.0000
5:141857470:AA:A	acceptor_gain	1.0000
5:141857470:AACTG:A	acceptor_loss	1.0000
5:141857471:AC:A	acceptor_loss	1.0000
5:141857472:C:CA	acceptor_loss	1.0000
5:141865423:TTCAC:T	acceptor_gain	1.0000
5:141865429:T:C	acceptor_loss	1.0000
5:141865437:A:T	acceptor_gain	1.0000
5:141854450:C:CT	acceptor_gain	0.9900
5:141856272:C:CT	acceptor_gain	0.9900
5:141856274:C:CT	acceptor_gain	0.9900
5:141856275:A:T	acceptor_gain	0.9900
5:141857215:ATT:A	donor_gain	0.9900
5:141857250:A:AC	donor_gain	0.9900
5:141857251:C:CC	donor_gain	0.9900
5:141857274:T:A	donor_gain	0.9900
5:141857467:GGTAA:G	acceptor_gain	0.9900
5:141857468:GTAA:G	acceptor_gain	0.9900

AlphaMissense

8048 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:141864331:A:T	I667N	1.000
5:141864496:A:G	F612S	1.000
5:141864893:C:G	D480H	1.000
5:141864898:G:T	A478D	1.000
5:141865012:A:G	F440S	1.000
5:141865088:C:G	A415P	1.000
5:141865177:G:T	P385H	1.000
5:141865321:C:T	G337E	1.000
5:141868639:G:T	P278H	1.000
5:141868675:A:G	L266P	1.000
5:141868729:A:G	L248P	1.000
5:141868777:A:G	L232P	1.000
5:141868777:A:T	L232H	1.000
5:141868885:T:G	D196A	1.000
5:141868975:G:T	P166H	1.000
5:141868984:T:A	D163V	1.000
5:141868984:T:G	D163A	1.000
5:141868986:A:C	N162K	1.000
5:141868986:A:T	N162K	1.000
5:141868987:T:A	N162I	1.000
5:141869155:C:A	G106V	1.000
5:141869155:C:T	G106D	1.000
5:141869176:A:G	L99P	1.000
5:141863962:A:G	L790P	0.999
5:141864037:A:G	F765S	0.999
5:141864103:T:G	D743A	0.999
5:141864104:C:G	D743H	0.999
5:141864193:G:T	P713H	0.999
5:141864202:T:G	D710A	0.999
5:141864223:A:T	I703N	0.999

dbSNP variants (sampled 300 via entrez): RS1000130420 (5:141871152 A>G), RS1000204620 (5:141866849 C>G,T), RS1000233559 (5:141857918 A>C), RS1000416037 (5:141877396 G>T), RS1000470118 (5:141877538 G>A), RS1000575122 (5:141878874 C>T), RS1000747889 (5:141876196 C>G), RS1000812155 (5:141860142 A>G), RS1001363799 (5:141870478 G>A,C), RS1001539641 (5:141876961 G>A), RS1001684588 (5:141853998 T>C), RS1001811713 (5:141870860 T>C), RS1001861184 (5:141879559 C>T), RS1001897679 (5:141873073 T>C), RS1001914111 (5:141876141 G>A,C)

Disease associations

OMIM: gene MIM:603626 | disease phenotypes: MIM:189960

GenCC curated gene-disease

Mondo (1): esophageal atresia/tracheoesophageal fistula (MONDO:0008586)

Orphanet (1): Esophageal atresia (Orphanet:1199)

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001850_44	Major depressive disorder	5.000000e-06
GCST001881_3	Myopia (pathological)	2.000000e-06
GCST003073_13	Cerebral amyloid deposition (PET imaging)	2.000000e-07
GCST003073_3	Cerebral amyloid deposition (PET imaging)	1.000000e-06
GCST004748_47	Lung cancer	3.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004207	pathological myopia
EFO:0007707	cerebral amyloid deposition measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C531835	Esophageal atresia with or without tracheoesophageal fistula (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	decreases methylation, increases expression, increases methylation	3
Particulate Matter	affects expression, increases reaction, increases abundance, increases expression	3
sodium arsenite	increases expression	2
Acetaminophen	increases expression	2
Air Pollutants	increases abundance, increases expression	2
Calcitriol	increases expression, affects cotreatment	2
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
beta-lapachone	increases expression	1
butyraldehyde	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
pentanal	increases expression	1
tamibarotene	affects expression	1
di-n-butylphosphoric acid	affects expression	1
perfluoro-n-nonanoic acid	increases expression	1
monomethylarsonous acid	decreases expression	1
oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine	increases reaction, affects expression	1
(E)-4-((2-N-(4-methoxybenzenesulfonyl)amino)stilbazole)1-oxide	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Vorinostat	increases expression, affects cotreatment	1
Leflunomide	increases expression	1
Ethanol	increases expression	1
Aldehydes	increases expression	1
Amiodarone	increases expression	1
Vehicle Emissions	affects expression, increases reaction	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Cacodylic Acid	decreases expression	1
Cisplatin	decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1

Cellosaurus cell lines

7 cell lines: 4 cancer cell line, 3 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A5F6	SEES3-1V human PCDH1, clone1	Embryonic stem cell	Male
CVCL_A5F7	SEES3-1V human PCDH1, clone2	Embryonic stem cell	Male
CVCL_A5F8	SEES3-1V human PCDH1, clone3	Embryonic stem cell	Male
CVCL_TC41	HAP1 PCDH1 (-) 1	Cancer cell line	Male
CVCL_TC42	HAP1 PCDH1 (-) 2	Cancer cell line	Male
CVCL_TC43	HAP1 PCDH1 (-) 3	Cancer cell line	Male
CVCL_TC44	HAP1 PCDH1 (-) 4	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03792360	PHASE1	WITHDRAWN	Adipose Derived SVF for Aero-digestive & Enterocutaneous Fistulae
NCT02033772	Not specified	COMPLETED	Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery
NCT02364843	Not specified	TERMINATED	A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 Months
NCT03455881	Not specified	UNKNOWN	Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients
NCT03730454	Not specified	ACTIVE_NOT_RECRUITING	Transanastomotic Tube for Proximal Esophageal Atresia With Distal Tracheoesophageal Fistula Repair