MYO1A

Summary

MYO1A (myosin IA, HGNC:7595) is a protein-coding gene on chromosome 12q13.3, encoding Unconventional myosin-Ia (Q9UBC5). Involved in directing the movement of organelles along actin filaments.

This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic domains characteristic of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with autosomal dominant deafness. Alternatively spliced variants have been found for this gene.

Source: NCBI Gene 4640 — RefSeq curated summary.

At a glance

• Gene–disease (curated): nonsyndromic genetic hearing loss (Refuted, ClinGen)
• GWAS associations: 10
• Clinical variants (ClinVar): 232 total — 1 likely-pathogenic
• Phenotypes (HPO): 6
• MANE Select transcript: NM_005379

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7595
Approved symbol	MYO1A
Name	myosin IA
Location	12q13.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000166866
Ensembl biotype	protein_coding
OMIM	601478
Entrez	4640

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 9 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000300119, ENST00000433964, ENST00000442789, ENST00000471791, ENST00000476795, ENST00000477864, ENST00000487083, ENST00000492945, ENST00000554234, ENST00000907118, ENST00000907119, ENST00000907120, ENST00000907121, ENST00000966311

RefSeq mRNA: 2 — MANE Select: NM_005379 NM_001256041, NM_005379

CCDS: CCDS8929

Canonical transcript exons

ENST00000300119 — 28 exons

Exon	Start	End
ENSE00001107310	57028517	57028881
ENSE00001107312	57046552	57046650
ENSE00001107317	57037548	57037641
ENSE00001107321	57036307	57036381
ENSE00001107324	57038412	57038638
ENSE00001107325	57041432	57041497
ENSE00001107340	57039212	57039274
ENSE00001107344	57031040	57031174
ENSE00001107347	57043856	57044003
ENSE00001107351	57041184	57041288
ENSE00001107361	57047061	57047107
ENSE00001107364	57044106	57044209
ENSE00001107367	57047989	57048104
ENSE00001107371	57037869	57038069
ENSE00001107375	57036942	57037091
ENSE00001107376	57047627	57047721
ENSE00001107379	57036772	57036840
ENSE00001107382	57043072	57043158
ENSE00001351806	57049887	57050129
ENSE00003483758	57048210	57048343
ENSE00003484493	57038809	57039009
ENSE00003492783	57029435	57029587
ENSE00003604676	57047303	57047407
ENSE00003632270	57046863	57046926
ENSE00003659922	57030210	57030316
ENSE00003667780	57029740	57029872
ENSE00003678172	57043240	57043358
ENSE00003686323	57029132	57029259

Expression profiles

Bgee: expression breadth ubiquitous, 165 present calls, max score 98.99.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.8782 / max 651.0835, expressed in 45 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
131617	0.5652	41
131619	0.1357	8
131615	0.1039	18
131620	0.0396	7
131616	0.0233	5
131618	0.0104	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
jejunal mucosa	UBERON:0000399	98.99	gold quality
mucosa of transverse colon	UBERON:0004991	98.71	gold quality
ileal mucosa	UBERON:0000331	98.58	gold quality
rectum	UBERON:0001052	97.83	gold quality
duodenum	UBERON:0002114	96.33	gold quality
small intestine Peyer’s patch	UBERON:0003454	94.53	gold quality
small intestine	UBERON:0002108	94.07	gold quality
colonic mucosa	UBERON:0000317	92.61	gold quality
mucosa of sigmoid colon	UBERON:0004993	92.17	gold quality
transverse colon	UBERON:0001157	91.08	gold quality
intestine	UBERON:0000160	85.71	gold quality
colonic epithelium	UBERON:0000397	83.77	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	83.06	gold quality
large intestine	UBERON:0000059	82.84	gold quality
jejunum	UBERON:0002115	82.56	gold quality
colon	UBERON:0001155	82.37	gold quality
spinal cord	UBERON:0002240	80.60	gold quality
body of stomach	UBERON:0001161	78.57	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.02	gold quality
gall bladder	UBERON:0002110	76.50	gold quality
stomach	UBERON:0000945	76.33	gold quality
vermiform appendix	UBERON:0001154	76.24	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	75.38	silver quality
pancreatic ductal cell	CL:0002079	75.35	silver quality
caecum	UBERON:0001153	74.90	gold quality
mucosa of stomach	UBERON:0001199	72.53	gold quality
sigmoid colon	UBERON:0001159	71.39	gold quality
fundus of stomach	UBERON:0001160	69.51	gold quality
paraflocculus	UBERON:0005351	69.35	gold quality
granulocyte	CL:0000094	69.27	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	66.45
E-ANND-3	yes	14.27

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting MYO1A, 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-4525	99.94	64.38	675
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-3913-5P	99.78	67.26	968
HSA-MIR-6794-5P	99.76	66.38	1048
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-4716-3P	99.69	66.73	1022
HSA-MIR-3122	99.50	66.33	821
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-877-3P	99.09	68.10	1637
HSA-MIR-4473	98.89	69.10	652
HSA-MIR-648	98.64	66.13	553
HSA-MIR-4443	98.02	66.25	1928
HSA-MIR-1302	97.92	67.27	844

Literature-anchored findings (GeneRIF, showing 13)

• MYO1A (brush border myosin I) dynamics in the brush border of LLC-PK1-CL4 cells (PMID:11916846)
• mapping of a novel autosomal dominant non-syndromic deafness locus, DFNA48, to chromosome 12q13-q14 in an Italian family (PMID:12596055)
• Multiple mutations of MYO1A, a cochlear-expressed gene, were studied in sensorineural hearing loss. (PMID:12736868)
• This movement is based on an active and directed process that is facilitated by an acto-NMI complex, establishing for the first time a functional role for a motor complex consisting of actin and a myosin in the nucleus. (PMID:16936815)
• These data are the first to suggest that mechanical activity is essential for proper localization of Myo1a in microvilli. (PMID:17981900)
• Sensing molecular tension is crucial for a wide array of cellular processes. Myosin I dramatically alters its motile properties in response to tension. (PMID:18599791)
• results identify MYO1A as a unique tumor-suppressor gene in colorectal cancer and demonstrate that the loss of structural brush border proteins involved in cell polarity are important for tumor development (PMID:22307608)
• Myo1a targeting to microvilli is driven by membrane binding potential that is distributed throughout TH1 rather than localized to a single motif. (PMID:22367206)
• findings suggest that MYO1A has tumor suppressor activity in the normal gastric epithelium but not in the normal endometrium and inactivation of MYO1A either genetically or epigenetically may confer gastric epithelial cells a growth ad (PMID:23002058)
• Most of the altogether 10 MYO1A mutations are annotated in dbSNP, and population frequencies (dbSNP, 1000 Genomes, Exome Sequencing Project) above 0.1% contradict pathogenicity under a dominant model (PMID:24616153)
• One missense variant, p.R544W, was found in the MYO1A gene, and in silico analysis suggested that this variant has deleterious effects on protein function. (PMID:25080041)
• This is the first time a haplotype on chromosome 12 containing sequence variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A has been linked to an inherited neuropathy in humans. (PMID:26517670)
• These data do not support a causal relationship of variants in MYO1A to sensorineural hearing loss. We suggest that the genotypic ascertainment method is useful to objectively evaluate gene-phenotype associations. (PMID:27759032)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Myo1a	ENSMUSG00000025401
rattus_norvegicus	Myo1a	ENSRNOG00000004177

Paralogs (44): MYH13 (ENSG00000006788), MYO16 (ENSG00000041515), MYO9A (ENSG00000066933), MYO3B (ENSG00000071909), MYH7B (ENSG00000078814), MYO15A (ENSG00000091536), MYH7 (ENSG00000092054), MYO3A (ENSG00000095777), MYO9B (ENSG00000099331), MYH9 (ENSG00000100345), MYH14 (ENSG00000105357), MYH1 (ENSG00000109061), MYH3 (ENSG00000109063), MYH2 (ENSG00000125414), MYO1B (ENSG00000128641), MYO5C (ENSG00000128833), CGNL1 (ENSG00000128849), MYH8 (ENSG00000133020), MYH10 (ENSG00000133026), MYH11 (ENSG00000133392), MYO18B (ENSG00000133454), CCDC102A (ENSG00000135736), MYO1G (ENSG00000136286), MYO7A (ENSG00000137474), MYO1F (ENSG00000142347), CGN (ENSG00000143375), TMF1 (ENSG00000144747), MYH15 (ENSG00000144821), MYO10 (ENSG00000145555), CCDC102B (ENSG00000150636), MYO1E (ENSG00000157483), CCDC158 (ENSG00000163749), MYO5B (ENSG00000167306), MYO7B (ENSG00000169994), MYO1H (ENSG00000174527), MYO1D (ENSG00000176658), MYO18A (ENSG00000196535), MYO6 (ENSG00000196586), MYO5A (ENSG00000197535), MYH6 (ENSG00000197616)

Protein

Protein identifiers

Unconventional myosin-Ia — Q9UBC5 (reviewed: Q9UBC5)

Alternative names: Brush border myosin I, Myosin I heavy chain

All UniProt accessions (4): Q9UBC5, C9JU63, G3V342, G3V587

UniProt curated annotations — full annotation on UniProt →

Function. Involved in directing the movement of organelles along actin filaments.

Subcellular location. Cell projection. Microvillus.

Tissue specificity. Expressed in the enterocytes.

Post-translational modifications. Phosphorylated by ALPK1.

Disease relevance. Diarrhea 15, congenital (DIAR15) [MIM:621179] An autosomal recessive disorder characterized by severe diarrhea manifesting in infancy and resolving by the second year of life. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.

RefSeq proteins (2): NP_001242970, NP_005370* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000048	IQ_motif_EF-hand-BS	Binding_site
IPR001609	Myosin_head_motor_dom-like	Domain
IPR010926	Myosin_TH1	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036072	MYSc_Myo1	Domain
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily

Pfam: PF00063, PF00612, PF06017

UniProt features (23 total): sequence variant 13, domain 5, sequence conflict 2, chain 1, region of interest 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UBC5-F1	85.11	0.36

Functional residue map

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

Ligand- & substrate-binding residues (1): 101–108

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 126 (showing top): GOBP_VESICLE_LOCALIZATION, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, RODRIGUES_NTN1_TARGETS_DN, PUJANA_CHEK2_PCC_NETWORK, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, GOCC_APICAL_PLASMA_MEMBRANE, GOBP_SENSORY_PERCEPTION, GOMF_ACTIN_BINDING

GO Biological Process (7): endocytosis (GO:0006897), actin filament organization (GO:0007015), sensory perception of sound (GO:0007605), microvillus assembly (GO:0030033), actin filament-based movement (GO:0030048), vesicle localization (GO:0051648), cell projection organization (GO:0030030)

GO Molecular Function (8): microfilament motor activity (GO:0000146), calmodulin binding (GO:0005516), ATP binding (GO:0005524), actin filament binding (GO:0051015), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (15): cytoplasm (GO:0005737), plasma membrane (GO:0005886), microvillus (GO:0005902), brush border (GO:0005903), actin cytoskeleton (GO:0015629), basolateral plasma membrane (GO:0016323), apical plasma membrane (GO:0016324), lateral plasma membrane (GO:0016328), myosin complex (GO:0016459), cortical actin cytoskeleton (GO:0030864), filamentous actin (GO:0031941), plasma membrane raft (GO:0044853), actin filament (GO:0005884), basal plasma membrane (GO:0009925), plasma membrane bounded cell projection (GO:0120025)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
plasma membrane region	5
actin cytoskeleton	3
cellular anatomical structure	2
apical part of cell	2
plasma membrane	2
protein-containing complex	2
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
actin cytoskeleton organization	1
supramolecular fiber organization	1
sensory perception of mechanical stimulus	1
microvillus organization	1
plasma membrane bounded cell projection assembly	1
actin filament-based process	1
organelle localization	1
cellular component organization	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
ATP-dependent activity	1
protein binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
actin binding	1
protein-containing complex binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
cytoskeletal protein binding	1
binding	1
intracellular anatomical structure	1
membrane	1
cell periphery	1
actin filament bundle	1
actin-based cell projection	1
microvillus	1
cluster of actin-based cell projections	1
cytoskeleton	1
basal plasma membrane	1

Protein interactions and networks

STRING

942 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYO1A	CALML6	Q8TD86	778
MYO1A	CALML3	P27482	778
MYO1A	CALML5	Q9NZT1	778
MYO1A	CALML4	Q96GE6	778
MYO1A	CALM1	P02593	774
MYO1A	ACTG1	P02571	758
MYO1A	ACTR1B	P42025	715
MYO1A	ACTR1A	P42024	673
MYO1A	ACTR2	P61160	667
MYO1A	EMP1	P54849	633
MYO1A	LGALS4	P56470	585
MYO1A	ESPN	B1AK53	584
MYO1A	MGP	P08493	496
MYO1A	ALPK1	Q96QP1	481
MYO1A	OTOA	Q7RTW8	479

IntAct

18 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
KIF1C	HSPA8	psi-mi:“MI:0914”(association)	0.350
FOXQ1	DDX39A	psi-mi:“MI:0914”(association)	0.350
CUL1	LGALS8	psi-mi:“MI:0914”(association)	0.350
USP20		psi-mi:“MI:0914”(association)	0.350
GRB2	MYO1C	psi-mi:“MI:0914”(association)	0.350
CFTR	MYH7B	psi-mi:“MI:0914”(association)	0.350
	SDCBP	psi-mi:“MI:0914”(association)	0.350
CALM2	MYO1C	psi-mi:“MI:0914”(association)	0.350
PHLDA3	MYO1A	psi-mi:“MI:0915”(physical association)	0.000
NEK6	MYO1A	psi-mi:“MI:0915”(physical association)	0.000
MAP3K3	MYO1A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (29): MYO1A (Affinity Capture-MS), MYO1A (Affinity Capture-MS), MYO1A (Affinity Capture-MS), MYO1A (Affinity Capture-MS), MYO1A (Affinity Capture-MS), MYO1A (Affinity Capture-MS), MYO1A (Affinity Capture-MS), MYO1A (Affinity Capture-MS), MYO1A (Affinity Capture-MS), MYO1A (Affinity Capture-MS), MYO1A (Affinity Capture-MS), MYO1A (Affinity Capture-MS), MYO1A (Reconstituted Complex), MYO1A (Affinity Capture-MS), MYO1A (Proximity Label-MS)

ESM2 similar proteins: A0MP03, A3LYL7, A5DKH0, A5PF48, A6ZMG6, E7F9L8, E9Q634, F1PRN2, F4I460, F4JM19, O00159, O00160, O08638, O88329, O94832, P10568, P10587, P11055, P35748, P35749, P70248, P97479, Q01989, Q04439, Q076A3, Q12965, Q13402, Q17LW0, Q17R14, Q23979, Q27966, Q29P71, Q5SYD0, Q5ZLA6, Q62774, Q62812, Q63355, Q63356, Q63357, Q6BUQ2

Diamond homologs: A0MP03, A1C4A5, A1DBH2, A2R5J1, A3LYL7, A4RE77, A5DKH0, A5E4A8, A5PF48, A6SED8, A6ZMG6, A6ZZJ1, A7EK16, A7TDZ8, A8N2Y6, A8PWF6, B0CRJ3, B0I1T2, B0Y9Q4, D3ZJP6, E7F9L8, E9Q634, F1PRN2, F4HWY6, F4I5Q6, F4IUG9, F4IVR7, F4JM19, F4K5J1, K7U9N8, O00159, O00160, O43795, O88329, O94832, P0CP00, P0CP01, P10568, P10569, P19706

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	138
Likely benign	43
Benign	27

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3252074	NM_005379.4(MYO1A):c.718G>A (p.Asp240Asn)	Likely pathogenic

SpliceAI

3980 predictions. Top by Δscore:

Variant	Effect	Δscore
12:57028880:ACCT:A	acceptor_loss	1.0000
12:57029126:CCTCA:C	donor_loss	1.0000
12:57029127:CTCA:C	donor_loss	1.0000
12:57029129:CACTT:C	donor_loss	1.0000
12:57029130:A:AC	donor_gain	1.0000
12:57029131:C:CC	donor_gain	1.0000
12:57029131:CTT:C	donor_gain	1.0000
12:57029131:CTTCT:C	donor_gain	1.0000
12:57029133:T:TA	donor_gain	1.0000
12:57029257:CAT:C	acceptor_gain	1.0000
12:57029257:CATCT:C	acceptor_gain	1.0000
12:57029261:T:C	acceptor_gain	1.0000
12:57029261:T:TC	acceptor_gain	1.0000
12:57029438:A:AC	donor_gain	1.0000
12:57029439:C:CC	donor_gain	1.0000
12:57029463:T:TA	donor_gain	1.0000
12:57029734:CCTTA:C	donor_loss	1.0000
12:57029735:CTTAC:C	donor_loss	1.0000
12:57029736:TTAC:T	donor_loss	1.0000
12:57029737:TAC:T	donor_loss	1.0000
12:57029738:A:AT	donor_loss	1.0000
12:57029739:C:CA	donor_loss	1.0000
12:57029853:C:CT	acceptor_gain	1.0000
12:57029853:C:T	acceptor_gain	1.0000
12:57029855:C:CT	acceptor_gain	1.0000
12:57029871:CA:C	acceptor_gain	1.0000
12:57029873:C:CC	acceptor_gain	1.0000
12:57029978:AT:A	donor_gain	1.0000
12:57031036:TTGC:T	donor_loss	1.0000
12:57031037:TGC:T	donor_loss	1.0000

AlphaMissense

6831 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:57038066:G:C	C588W	0.998
12:57041242:A:G	L404P	0.998
12:57041248:T:A	E402V	0.998
12:57041259:G:C	N398K	0.998
12:57041259:G:T	N398K	0.998
12:57041457:T:G	D380A	0.998
12:57041460:A:G	L379P	0.998
12:57047061:A:C	F159L	0.998
12:57047061:A:T	F159L	0.998
12:57047063:A:G	F159L	0.998
12:57047643:A:C	S103R	0.998
12:57047643:A:T	S103R	0.998
12:57047645:T:G	S103R	0.998
12:57041247:C:A	E402D	0.997
12:57041247:C:G	E402D	0.997
12:57041444:A:C	F384L	0.997
12:57041444:A:T	F384L	0.997
12:57041446:A:G	F384L	0.997
12:57041456:A:C	D380E	0.997
12:57041456:A:T	D380E	0.997
12:57041457:T:A	D380V	0.997
12:57041458:C:G	D380H	0.997
12:57047400:G:C	S111R	0.997
12:57047400:G:T	S111R	0.997
12:57047402:T:G	S111R	0.997
12:57047405:C:G	A110P	0.997
12:57041248:T:G	E402A	0.996
12:57041457:T:C	D380G	0.996
12:57041460:A:T	L379H	0.996
12:57047101:C:T	G146D	0.996

dbSNP variants (sampled 300 via entrez): RS1000051058 (12:57030589 A>G), RS1000060441 (12:57032626 T>C), RS1000121527 (12:57041344 G>C,T), RS1000466534 (12:57034653 C>A,T), RS1000972068 (12:57043783 A>G), RS1001394823 (12:57042701 T>C), RS1001684792 (12:57030496 C>G,T), RS1002050510 (12:57052987 G>A), RS1002204616 (12:57048976 T>C), RS1002232471 (12:57035116 A>T), RS1002418632 (12:57031847 C>A), RS1002429419 (12:57048279 G>A), RS1002569318 (12:57036623 A>C), RS1002635386 (12:57043216 C>T), RS1002708318 (12:57041709 A>G)

Disease associations

OMIM: gene MIM:601478 | disease phenotypes: MIM:214700, MIM:621179, MIM:607841

GenCC curated gene-disease

Disease	Classification	Inheritance
nonsyndromic genetic hearing loss	Refuted Evidence	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
nonsyndromic genetic hearing loss	Refuted	AD

Mondo (5): prostate cancer (MONDO:0008315), congenital diarrhea (MONDO:0000824), diarrhea 15, congenital (MONDO:0976268), autosomal dominant nonsyndromic hearing loss 48 (MONDO:0011920), nonsyndromic genetic hearing loss (MONDO:0019497)

Orphanet (2): Familial prostate cancer (Orphanet:1331), Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635)

HPO phenotypes

6 total (6 of 6 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000407	Sensorineural hearing impairment
HP:0002014	Diarrhea
HP:0003593	Infantile onset
HP:0033994	Dependency on parenteral nutrition

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST002539_15	Schizophrenia	2.000000e-12
GCST006979_1061	Heel bone mineral density	3.000000e-10
GCST007563_7	Allergic disease (asthma, hay fever or eczema)	1.000000e-09
GCST007564_27	Asthma or allergic disease (pleiotropy)	8.000000e-13
GCST008103_173	Bipolar disorder	7.000000e-06
GCST008916_110	Asthma	1.000000e-27
GCST008916_18	Asthma	8.000000e-18
GCST008916_2	Asthma	2.000000e-08
GCST009798_10	Asthma	3.000000e-29
GCST90002404_138	Red cell distribution width	8.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density
EFO:0009188	Red cell distribution width

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
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
C564322	Deafness, Autosomal Dominant 48 (supp.)
C580334	Nonsyndromic Deafness (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases expression, increases methylation	3
aristolochic acid I	increases expression	1
fluorene-9-bisphenol	decreases expression	1
propionaldehyde	decreases expression	1
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
theaflavin-3,3’-digallate	affects expression	1
Air Pollutants	decreases expression	1
Aldehydes	decreases expression	1
Arsenic	affects methylation	1
Ascorbic Acid	affects cotreatment, decreases expression	1
Catechin	affects cotreatment, increases expression	1
Ethyl Methanesulfonate	increases expression	1
Hydrogen Peroxide	affects expression	1
Methyl Methanesulfonate	increases expression	1
Quercetin	affects cotreatment, decreases expression	1
Silicon Dioxide	decreases expression	1
Aflatoxin B1	increases methylation	1
S-Nitrosoglutathione	increases expression	1

Clinical trials (associated diseases)

301 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