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CRIP3

gene
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Also known as TLP-AbA480N24.2TLP

Summary

CRIP3 (cysteine rich protein 3, HGNC:17751) is a protein-coding gene on chromosome 6p21.1, encoding Cysteine-rich protein 3 (Q6Q6R5).

Predicted to enable metal ion binding activity. Predicted to act upstream of or within T cell proliferation. Predicted to be located in cytoplasm.

Source: NCBI Gene 401262 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

  • GWAS associations: 20
  • Clinical variants (ClinVar): 37 total
  • GTEx eGene: eQTL in 13 tissues, sQTL in 2 (q < 0.05)
  • Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.04 (unconstrained)
  • MANE Select transcript: NM_206922

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:17751
Approved symbolCRIP3
Namecysteine rich protein 3
Location6p21.1
Locus typegene with protein product
StatusApproved
AliasesTLP-A, bA480N24.2, TLP
Ensembl geneENSG00000146215
Ensembl biotypeprotein_coding
Entrez401262

Gene structure

Transcript identifiers

Ensembl transcripts: 34 — 24 protein_coding, 7 nonsense_mediated_decay, 3 retained_intron

MANE Select: ENST00000372569

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 2, TSL 3: 3

ENST00000372569, ENST00000274990, ENST00000416431, ENST00000451294, ENST00000477866, ENST00000485819, ENST00000487744, ENST00000875330, ENST00000875331, ENST00000875332, ENST00000875333, ENST00000917954, ENST00000917955, ENST00000917956, ENST00000917957, ENST00000917958, ENST00000917959, ENST00000917960, ENST00000917961, ENST00000917962, ENST00000917963, ENST00000996765, ENST00000996766, ENST00001027280, ENST00001027281, ENST00001077667, ENST00001077668, ENST00001077669, ENST00001077670, ENST00001077672, ENST00001077673, ENST00001077674, ENST00001077676, ENST00001140165

RefSeq mRNA: 2 — MANE Select: NM_206922 NM_001366068, NM_206922

CCDS: CCDS4894

Canonical transcript exons

ENST00000372569 — 8 exons

ExonStartEnd
ENSE000009744994330831543308409
ENSE000009745014330761243307743
ENSE000009745024330644643306517
ENSE000009745034330621943306313
ENSE000014581184330547243305875
ENSE000035453604330783943307896
ENSE000035707124330606743306124
ENSE000039020204330875043308826

Expression profiles

Bgee: expression breadth ubiquitous, 165 present calls, max score 95.03.

FANTOM5 (CAGE): breadth broad, TPM avg 1.1956 / max 53.0668, expressed in 275 samples.

Highest expression (Bgee): apex of heart, testis, cerebellar hemisphere, hemisphere of cerebellum, cerebellar cortex.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CRIP3 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 13 tissues and its splicing (sQTL) in 2 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

15 significant tissue × QTL associations:

TissueQTLq-valueSlopeLead variant
Heart Left Ventricleeqtl5.9e-14-0.326:43305866:A:G
Testissqtl3.8e-10-0.536:43305866:A:G
Livereqtl3.1e-09-0.396:43301291:A:C
Heart Atrial Appendageeqtl2.0e-07+0.286:43292274:A:C
Testiseqtl1.8e-04-0.116:43292274:A:C
Skin Sun Exposed Lower legeqtl4.8e-03-0.156:43336269:C:A
Cells EBV-transformed lymphocytessqtl1.0e-02-0.426:43396756:G:A
Brain Anterior cingulate cortex BA24eqtl1.0e-02-1.776:43025564:A:G
Artery Tibialeqtl1.4e-02-0.326:43168060:G:A
Skin Not Sun Exposed Suprapubiceqtl2.7e-02-0.316:43465542:G:A
Brain Hippocampuseqtl2.7e-02-2.646:43025564:A:G
Brain Spinal cord cervical c-1eqtl3.9e-02-2.286:43239300:T:C
Muscle Skeletaleqtl4.4e-02-0.356:43785985:G:A
Adipose Subcutaneouseqtl4.5e-02-0.466:42623491:G:A
Ovaryeqtl5.0e-02-0.976:43884123:G:A

FANTOM5 promoters

2 alternative TSS:

Promoter IDTPM avgSamples expressed
736751.0381246
736760.157490

Top tissues by expression

showing 100 of 241 tissues by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
apex of heartUBERON:000209895.03gold quality
right testisUBERON:000453492.37gold quality
left testisUBERON:000453392.14gold quality
cerebellar hemisphereUBERON:000224590.09gold quality
right hemisphere of cerebellumUBERON:001489090.00gold quality
cerebellar cortexUBERON:000212989.98gold quality
testisUBERON:000047388.30gold quality
cerebellumUBERON:000203788.29gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047387.70gold quality
right lobe of liverUBERON:000111485.23gold quality
granulocyteCL:000009485.16gold quality
heart left ventricleUBERON:000208484.88gold quality
cardiac ventricleUBERON:000208284.43gold quality
nucleus accumbensUBERON:000188283.88gold quality
right frontal lobeUBERON:000281081.96gold quality
putamenUBERON:000187481.85gold quality
caudate nucleusUBERON:000187381.47gold quality
Brodmann (1909) area 9UBERON:001354081.34gold quality
amygdalaUBERON:000187681.14gold quality
spleenUBERON:000210680.55gold quality
anterior cingulate cortexUBERON:000983579.51gold quality
hypothalamusUBERON:000189879.40gold quality
dorsolateral prefrontal cortexUBERON:000983477.06gold quality
lymph nodeUBERON:000002977.05gold quality
heartUBERON:000094876.87gold quality
spermCL:000001976.36silver quality
cortical plateUBERON:000534376.34gold quality
brainUBERON:000095576.09gold quality
liverUBERON:000210775.49gold quality
C1 segment of cervical spinal cordUBERON:000646975.18gold quality
forebrainUBERON:000189074.96gold quality
vena cavaUBERON:000408774.54gold quality
monocyteCL:000057674.27gold quality
spinal cordUBERON:000224074.25gold quality
leukocyteCL:000073874.22gold quality
neocortexUBERON:000195074.22gold quality
substantia nigraUBERON:000203873.60gold quality
cerebral cortexUBERON:000095673.39gold quality
Ammon’s hornUBERON:000195473.26gold quality
frontal cortexUBERON:000187073.11gold quality
adult mammalian kidneyUBERON:000008273.07gold quality
kidney epitheliumUBERON:000481972.93gold quality
upper arm skinUBERON:000426372.83gold quality
midbrainUBERON:000189172.66gold quality
cortex of kidneyUBERON:000122572.48gold quality
prostate glandUBERON:000236772.40gold quality
right atrium auricular regionUBERON:000663172.23gold quality
prefrontal cortexUBERON:000045172.15gold quality
temporal lobeUBERON:000187171.98gold quality
small intestine Peyer’s patchUBERON:000345471.98gold quality
lower esophagus mucosaUBERON:003583471.82gold quality
mucosa of transverse colonUBERON:000499171.77gold quality
cardiac atriumUBERON:000208171.36gold quality
ventricular zoneUBERON:000305371.34gold quality
right ovaryUBERON:000211871.12gold quality
bloodUBERON:000017870.68gold quality
vermiform appendixUBERON:000115470.62gold quality
small intestineUBERON:000210870.57gold quality
pancreatic ductal cellCL:000207970.41silver quality
primary visual cortexUBERON:000243670.35gold quality
endocervixUBERON:000045870.05gold quality
tibial nerveUBERON:000132369.94gold quality
ganglionic eminenceUBERON:000402369.92gold quality
right lobe of thyroid glandUBERON:000111969.49gold quality
caecumUBERON:000115369.49gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099169.46gold quality
metanephros cortexUBERON:001053369.46gold quality
pituitary glandUBERON:000000769.25gold quality
adenohypophysisUBERON:000219669.20gold quality
left ovaryUBERON:000211969.05gold quality
occipital lobeUBERON:000202168.91gold quality
kidneyUBERON:000211368.77gold quality
right uterine tubeUBERON:000130268.73gold quality
bone marrow cellCL:000209267.83gold quality
left uterine tubeUBERON:000130367.76gold quality
layer of synovial tissueUBERON:000761667.76gold quality
body of uterusUBERON:000985367.76gold quality
epithelial cell of pancreasCL:000008367.74gold quality
bone marrowUBERON:000237167.31gold quality
left lobe of thyroid glandUBERON:000112066.96gold quality
anatomical systemUBERON:000046766.79gold quality
body of pancreasUBERON:000115066.77gold quality
material anatomical entityUBERON:000046566.54gold quality
multicellular organismUBERON:000046866.54gold quality
body of tongueUBERON:001187666.47gold quality
thyroid glandUBERON:000204666.13gold quality
tongueUBERON:000172366.10silver quality
superior surface of tongueUBERON:000737165.99gold quality
pharyngeal mucosaUBERON:000035565.98gold quality
ectocervixUBERON:001224965.97gold quality
saphenous veinUBERON:000731865.95gold quality
tracheaUBERON:000312665.65gold quality
thymusUBERON:000237065.64silver quality
ventral tegmental areaUBERON:000269165.62gold quality
lateral globus pallidusUBERON:000247665.53gold quality
pancreasUBERON:000126465.51gold quality
subthalamic nucleusUBERON:000190665.50gold quality
islet of LangerhansUBERON:000000665.45gold quality
pericardiumUBERON:000240765.39gold quality
skin of abdomenUBERON:000141665.37gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no1.54

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 75 HPA tissues / cells by nTPM:

Tissue / cellAxisnTPM
Heart muscletissue22.8
Testistissue7.9
Seminal vesicletissue7.6
Nucleus accumbenstissue5.5
Tonsiltissue5.5
Lymph nodetissue5.1
Hippocampustissue4.5
Livertissue3.8
Prostatetissue3.3
Postcentral gyrustissue3.2
Spleentissue2.6
Locus coeruleustissue2.5
Bone marrowtissue2.4
Pituitary glandtissue2.3
Retinatissue2.3
Kidneytissue2.0
Parathyroid glandtissue1.9
Duodenumtissue1.9
Small intestinetissue1.8
Skin 1tissue1.7
Appendixtissue1.6
Epididymistissue1.5
Thymustissue1.5
Vaginatissue1.4
Choroid plexustissue1.4
Cerebral cortextissue1.2
Temporal cortextissue1.2
Basal gangliatissue1.1
Retrosplenial cortextissue1.1
Occipital cortextissue1.1
Amygdalatissue1.0
Prefrontal cortextissue0.9
Insular cortextissue0.9
Ovarytissue0.8
Motor cortextissue0.8
Putamentissue0.8
Hippocampal formationtissue0.8
Entorhinal cortextissue0.8
Periaqueductal graytissue0.8
Endometrium 1tissue0.7
Hypothalamustissue0.7
Ventral forebraintissue0.7
Retrosplenial and cingulate cortextissue0.7
Olfactory bulbtissue0.7
Fallopian tubetissue0.7
Smooth muscletissue0.6
Cerebellumtissue0.6
Gallbladdertissue0.6
Septumtissue0.6
Somatosensory cortextissue0.6
Salivary glandtissue0.5
Colontissue0.5
Medulla oblongatatissue0.5
Breasttissue0.4
Rectumtissue0.4
Skeletal muscletissue0.4
Midbraintissue0.4
Superior colliculitissue0.4
Spinal cordtissue0.4
Adrenal glandtissue0.4

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Flocculonodular lobe (8.1), Vermis (7.9), Cerebellar cortex (7.2), Paraventricular nucleus (6.6), Supramarginal gyrus (6.3).

Regulation

Is transcription factor: no

Functional genomics

gnomAD constraint: pLI 1.71e-06, LOEUF 1.04, missense Z -0.0122 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000372569 — one region, missense o/e 1.01.

Literature-anchored findings (GeneRIF, showing 1)

  • TLP-mediated global transcriptional repression after double-strand DNA breaks slows down DNA repair and induces apoptosis. (PMID:30890736)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriocrip3ENSDARG00000043395
mus_musculusCrip3ENSMUSG00000023968
rattus_norvegicusCrip3ENSRNOG00000018613

Paralogs (20): FHL1 (ENSG00000022267), LMO3 (ENSG00000048540), LHX5 (ENSG00000089116), ZFHX4 (ENSG00000091656), LHX2 (ENSG00000106689), LHX6 (ENSG00000106852), LHX3 (ENSG00000107187), LHX4 (ENSG00000121454), LMO2 (ENSG00000135363), ZFHX2 (ENSG00000136367), LMX1B (ENSG00000136944), ZFHX3 (ENSG00000140836), LMO4 (ENSG00000143013), LHX9 (ENSG00000143355), LHX8 (ENSG00000162624), LMX1A (ENSG00000162761), LMO1 (ENSG00000166407), CRIP2 (ENSG00000182809), CRIP1 (ENSG00000213145), LHX1 (ENSG00000273706)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:2152434) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 4 distinct phenotype terms.

Mouse phenotype (MP)Records
small thymus1
decreased thymocyte number1
decreased exploration in new environment1
thymus hypoplasia1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

OrganismUniProtIdentityMethod
Gallus gallusP67966100.0%Diamond
Coturnix japonicaP67967100.0%Diamond
Bos taurusQ32LE9100.0%Diamond
Pongo abeliiQ5RCT499.5%Diamond
Drosophila melanogasterQ2440076.7%Diamond
Helianthus annuusP2967572.0%Diamond
Dictyostelium discoideumQ9BIW545.2%Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

SymbolTypeEntrez
SLC22A7protein-coding10864
ZNF318protein-coding24149
DNPH1protein-coding10591
TTBK1protein-coding84630
CUL9protein-coding23113

Protein

Protein identifiers

Cysteine-rich protein 3 — Q6Q6R5 (reviewed: Q6Q6R5)

Alternative names: Chromosome 6 LIM domain only protein

All UniProt accessions (3): Q6Q6R5, H0Y7Q9, Q5T045

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm.

Tissue specificity. Expressed in most tissues, but not in skeletal muscle.

Isoforms (4)

UniProt IDNamesCanonical?
Q6Q6R5-11, Cyes
Q6Q6R5-22, B
Q6Q6R5-33, A
Q6Q6R5-44, D

RefSeq proteins (2): NP_001352997, NP_996805* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001781Znf_LIMDomain

Pfam: PF00412

UniProt features (9 total): splice variant 3, domain 2, sequence conflict 2, chain 1, region of interest 1

Structure

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q6Q6R5-F174.810.42

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nuclear speckles

Antibody reliability (HPA): IH uncertain · IF approved

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 44 (showing top): GSE13762_CTRL_VS_125_VITAMIND_DAY12_DC_DN, STK33_SKM_DN, ZNF322_TARGET_GENES, MIR4731_5P, GSE11057_EFF_MEM_VS_CENT_MEM_CD4_TCELL_DN, MIR423_5P, MIR3184_5P, MIR6759_3P, GSE12366_NAIVE_VS_MEMORY_BCELL_UP, MIR1911_5P, BLANCO_MELO_RESPIRATORY_SYNCYTIAL_VIRUS_INFECTION_A594_CELLS_DN, GSE15750_WT_VS_TRAF6KO_DAY10_EFF_CD8_TCELL_UP, HAY_BONE_MARROW_DENDRITIC_CELL, GSE17721_POLYIC_VS_CPG_16H_BMDC_UP, WRNIP1_TARGET_GENES

GO Molecular Function (2): metal ion binding (GO:0046872), protein binding (GO:0005515)

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

4 GO namespaces:

CategoryTerms
cation binding1
binding1
intracellular anatomical structure1
cellular anatomical structure1

Protein interactions and networks

STRING

showing 16 of 234 interactions by confidence (×1000):

Protein AProtein BPartner UniProtScore
CRIP3HOXD8P13378390
CRIP3CLRN2A0PK11380
CRIP3SCO1O75880378
CRIP3SMIM12Q96EX1366
CRIP3BEND7Q8N7W2339
CRIP3TCAIMQ8N3R3330
CRIP3H0YIS7H0YIS7315
CRIP3LRRC40Q9H9A6314
CRIP3HOXD3P31249314
CRIP3MNMIP1A4FU49307
CRIP3COA6Q5JTJ3306
CRIP3TMEM128Q5BJH2295
CRIP3BTBD8Q5XKL5286
CRIP3BAIAP2L2Q6UXY1286
CRIP3TMEM179Q6ZVK1286
CRIP3KLHDC7BQ96G42286

IntAct

BioGRID (2 interactions; top human partners by supporting records): FHL3 (Two-hybrid), PLOD3 (Two-hybrid)

Disease & clinical

Genetic variants

Variant evidence for CRIP3: 37 ClinVar records (0 pathogenic / likely pathogenic); 20 GWAS associations.

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance29
Likely benign1
Benign0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 31 predictions of 758):

Position(s)EffectΔscoreSites
6:43306125–43306126acceptor_loss0.99006
6:43306134acceptor_gain0.9900
6:43306217–43306218donor_loss0.99004
6:43306314–43306315acceptor_loss0.99006
6:43306317acceptor_gain0.9900
6:43306320acceptor_gain0.9900
6:43306122acceptor_gain0.9800
6:43306218donor_loss0.9800
6:43306444–43306445donor_loss0.98005
6:43306518–43306519acceptor_loss0.98005

AlphaMissense

477 missense substitutions predicted likely pathogenic (of 1,340 scored), across 106 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

ResidueLikely-pathogenic substitutionsMean am_pathogenicityMax am_pathogenicity
H14580.9730.991
H2680.9710.990
H4480.8930.979
H16380.8750.978
W14470.9850.995
W2570.9830.993
C15170.9830.994
C17270.9830.991
C12470.9820.994
C2970.9810.990
C15470.9810.992
C17670.9810.991
C5370.9790.987
C3270.9780.991
C14870.9740.984
C5770.9730.987
C3570.9710.984
F6270.9680.993
C570.9670.988
F18170.9660.992

HPA cancer prognostics

RNA cancer specificity: Cancer enhanced (Kidney Chromophobe, Liver Hepatocellular Carcinoma)

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

1 prognostic cancer types:

CancerPrognosticp-value
Kidney Renal Papillary Cell Carcinoma (TCGA)favorable0.000197

Disease associations

OMIM: gene `` | disease phenotypes:

GWAS associations

20 associations:

StudyTraitp-value
GCST005962_28Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)3e-31
GCST005956_15Waist-to-hip ratio adjusted for BMI7e-26
GCST008899_1Adult hearing difficulty6e-21
GCST006188_41Systolic blood pressure (cigarette smoking interaction)8e-21
GCST008058_65Estimated glomerular filtration rate1e-20
GCST008059_76Estimated glomerular filtration rate2e-20
GCST005958_10Waist-to-hip ratio adjusted for BMI (age >50)2e-19
GCST012442_45Age-related hearing impairment1e-17
GCST005957_3Waist-to-hip ratio adjusted for BMI (age <50)2e-14
GCST006187_17Diastolic blood pressure (cigarette smoking interaction)1e-10
GCST007703_114Systolic blood pressure4e-10
GCST007099_139Systolic blood pressure1e-9
GCST007706_67Mean arterial pressure4e-9
GCST012227_928Hip circumference adjusted for BMI2e-8
GCST004521_115Autism spectrum disorder or schizophrenia3e-8
GCST008839_556Height4e-8
GCST007704_30Diastolic blood pressure1e-6
GCST007707_27Hypertension1e-6
GCST007096_130Pulse pressure3e-6
GCST007705_94Pulse pressure4e-6

EFO canonical traits (from GWAS)

9 canonical traits:

EFO IDTrait name
EFO:0007788BMI-adjusted waist-hip ratio
EFO:0008007age at assessment
EFO:0008343sex interaction measurement
EFO:0006336diastolic blood pressure
EFO:0006527smoking status measurement
EFO:0006335systolic blood pressure
EFO:0005763pulse pressure measurement
EFO:0006340mean arterial pressure
EFO:0008039BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyrenedecreases expression, decreases methylation2
Aflatoxin B1decreases expression2
propionaldehydeincreases expression1
tris(1,3-dichloro-2-propyl)phosphatedecreases expression1
pentanalincreases expression1
di-n-butylphosphoric acidaffects expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
abrinedecreases expression1
dorsomorphinaffects cotreatment, decreases expression1
jinfukangincreases expression, affects cotreatment1
Resveratroldecreases expression, affects cotreatment1
Sunitinibincreases expression1
Leflunomidedecreases expression1
Acetaminophendecreases expression1
Cisplatinaffects cotreatment, increases expression1
Copperaffects cotreatment, decreases expression1
Diethylhexyl Phthalatedecreases expression1
N-Nitrosopyrrolidinedecreases expression1
Phenylmercuric Acetateaffects cotreatment, decreases expression1
Silicon Dioxidedecreases expression1
Tobacco Smoke Pollutiondecreases expression1
Urethanedecreases expression1
Valproic Acidaffects expression1
Cyclosporinedecreases methylation1
Okadaic Aciddecreases expression1
Copper Sulfatedecreases expression1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): hypertensive disorder, presbycusis