ZNF626

gene
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Summary

ZNF626 (zinc finger protein 626, HGNC:30461) is a protein-coding gene on chromosome 19p12, encoding Zinc finger protein 626 (Q68DY1). May be involved in transcriptional regulation.

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleus.

Source: NCBI Gene 199777 — RefSeq curated summary.

At a glance

  • GWAS associations: 3
  • Clinical variants (ClinVar): 117 total
  • Cancer driver (intOGen): activating (oncogene-like) across 1 cancer types
  • MANE Select transcript: NM_001076675

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:30461
Approved symbolZNF626
Namezinc finger protein 626
Location19p12
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000188171
Ensembl biotypeprotein_coding
Entrez199777

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000291750, ENST00000595405, ENST00000601440

RefSeq mRNA: 2 — MANE Select: NM_001076675 NM_001076675, NM_145297

CCDS: CCDS32976, CCDS42535

Canonical transcript exons

ENST00000601440 — 4 exons

ExonStartEnd
ENSE000030338302061993920625650
ENSE000031429702066144420661571
ENSE000034896672064627920646405
ENSE000035026372064568420645779

Expression profiles

Bgee: expression breadth ubiquitous, 227 present calls, max score 98.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.3391 / max 309.0581, expressed in 1449 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
18020012.59421441
1801980.3995211
1801990.3454187

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
buccal mucosa cellCL:000233698.87gold quality
calcaneal tendonUBERON:000370191.16gold quality
tendonUBERON:000004388.07gold quality
adrenal tissueUBERON:001830386.93gold quality
tendon of biceps brachiiUBERON:000818884.27silver quality
smooth muscle tissueUBERON:000113582.16gold quality
left ovaryUBERON:000211981.89gold quality
oocyteCL:000002381.79gold quality
ganglionic eminenceUBERON:000402381.75gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047381.57gold quality
islet of LangerhansUBERON:000000681.42gold quality
ovaryUBERON:000099280.87gold quality
gall bladderUBERON:000211080.87gold quality
ventricular zoneUBERON:000305380.75gold quality
cortical plateUBERON:000534380.49gold quality
medial globus pallidusUBERON:000247780.42gold quality
right ovaryUBERON:000211880.33gold quality
secondary oocyteCL:000065580.29gold quality
endometriumUBERON:000129580.05gold quality
lymph nodeUBERON:000002979.87gold quality
corpus callosumUBERON:000233679.58gold quality
urinary bladderUBERON:000125579.31gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099178.91gold quality
spermCL:000001978.78silver quality
adrenal glandUBERON:000236978.76gold quality
left adrenal glandUBERON:000123478.58gold quality
right adrenal gland cortexUBERON:003582778.56gold quality
right adrenal glandUBERON:000123378.53gold quality
left adrenal gland cortexUBERON:003582578.51gold quality
thyroid glandUBERON:000204677.83gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes8.21

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

65 targeting ZNF626, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3163100.0077.238605
HSA-MIR-5692A100.0074.406850
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-428299.9975.366408
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-366299.9973.825684
HSA-MIR-548P99.9872.253784
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-MIR-485-3P99.9870.681585
HSA-MIR-539-3P99.9870.741616
HSA-MIR-480399.9871.993117
HSA-MIR-3688-3P99.9772.022834
HSA-MIR-302C-5P99.9772.563642
HSA-MIR-590-3P99.9674.346478
HSA-MIR-1468-3P99.9672.743797
HSA-MIR-548AA99.9670.643753
HSA-MIR-548AP-3P99.9670.643753
HSA-MIR-548T-3P99.9670.643753
HSA-MIR-146A-5P99.9668.93988
HSA-MIR-146B-5P99.9669.13977
HSA-MIR-570-3P99.9672.414910
HSA-MIR-651-3P99.9473.485177
HSA-MIR-101-3P99.9475.032230
HSA-MIR-7153-5P99.9468.891006
HSA-MIR-806399.9169.763146
HSA-MIR-95-5P99.8972.173973
HSA-MIR-1211999.8768.351653
HSA-MIR-612499.8769.783551
HSA-MIR-548D-3P99.8770.674362

Cross-species orthologs

1 orthologs

OrganismSymbolGene ID
danio_rerioENSDARG00000099025

Paralogs (18): ZNF430 (ENSG00000118620), ZNF92 (ENSG00000146757), ZNF66 (ENSG00000160229), ZNF22 (ENSG00000165512), ZNF680 (ENSG00000173041), ZNF114 (ENSG00000178150), ZFP41 (ENSG00000181638), ZNF730 (ENSG00000183850), ZNF479 (ENSG00000185177), ZNF431 (ENSG00000196705), ZNF100 (ENSG00000197020), ZNF257 (ENSG00000197134), ZNF98 (ENSG00000197360), ZNF675 (ENSG00000197372), ZNF273 (ENSG00000198039), ZNF737 (ENSG00000237440), ZNF253 (ENSG00000256771), ZNF723 (ENSG00000268696)

Protein

Protein identifiers

Zinc finger protein 626Q68DY1 (reviewed: Q68DY1)

All UniProt accessions (2): Q68DY1, M0QY39

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.

Isoforms (3)

UniProt IDNamesCanonical?
Q68DY1-11yes
Q68DY1-22
Q68DY1-33

RefSeq proteins (2): NP_001070143, NP_660340 (=MANE)

Domains & families (InterPro)

IDNameType
IPR001909KRABDomain
IPR013087Znf_C2H2_typeDomain
IPR036051KRAB_dom_sfHomologous_superfamily
IPR036236Znf_C2H2_sfHomologous_superfamily
IPR050636C2H2-ZF_domain-containingFamily

Pfam: PF00096, PF01352

UniProt features (23 total): zinc finger region 12, sequence variant 6, splice variant 3, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q68DY1-F171.500.14

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-212436Generic Transcription Pathway

MSigDB gene sets: 62 (showing top): chr19p12, BASAKI_YBX1_TARGETS_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, HATADA_METHYLATED_IN_LUNG_CANCER_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, ASH1L_TARGET_GENES, CEBPZ_TARGET_GENES, EBNA1BP2_TARGET_GENES, PRKDC_TARGET_GENES, TAF9B_TARGET_GENES, TRIP13_TARGET_GENES, ZNF184_TARGET_GENES, MIR616_5P, MIR371B_5P, MIR373_5P

GO Biological Process (2): regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357)

GO Molecular Function (5): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), DNA binding (GO:0003677), metal ion binding (GO:0046872)

GO Cellular Component (1): nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
RNA Polymerase II Transcription1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
RNA polymerase II transcription regulatory region sequence-specific DNA binding2
DNA-templated transcription1
regulation of gene expression1
regulation of RNA biosynthetic process1
regulation of DNA-templated transcription1
transcription by RNA polymerase II1
cis-regulatory region sequence-specific DNA binding1
chromatin1
DNA-binding transcription factor activity1
regulation of transcription by RNA polymerase II1
transition metal ion binding1
nucleic acid binding1
cation binding1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

376 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ZNF626ANKRD55Q3KP44593
ZNF626PRTFDC1Q9NRG1487
ZNF626GOLGA8JA6NMD2407
ZNF626OR2AE1Q8NHA4403
ZNF626CDCP2Q5VXM1392
ZNF626L3HYPDHQ96EM0365
ZNF626MRI1Q9BV20358
ZNF626DYNLT3P51808352
ZNF626CCDC73Q6ZRK6348
ZNF626MAMLD1Q13495338
ZNF626CSTL1Q9H114323
ZNF626LRCH2Q5VUJ6313
ZNF626NME4O00746306
ZNF626PCDHGA9Q9Y5G4304
ZNF626EAPPQ56P03302

IntAct

5 interactions, top by confidence:

ABTypeScore
ZNF626“espFpsi-mi:“MI:0915”(physical association)0.370
ECE1ZNF626psi-mi:“MI:0915”(physical association)0.370
FHL2ZNF626psi-mi:“MI:0915”(physical association)0.000
ZNF626ID3psi-mi:“MI:0915”(physical association)0.000

BioGRID (7): ZNF626 (Negative Genetic), ZNF626 (Negative Genetic), ZNF626 (Negative Genetic), ZNF626 (Affinity Capture-MS), ZNF626 (Affinity Capture-RNA), ZNF626 (Two-hybrid), ID3 (Two-hybrid)

ESM2 similar proteins: A6NK75, A6NNF4, A6NP11, A8MTY0, A8MUV8, B4DXR9, C9JN71, O75346, O75373, O95780, P0CJ79, P0DKX0, P0DPD5, P17019, P17035, P35789, Q03923, Q03938, Q08AN1, Q14593, Q15928, Q3SXZ3, Q3ZCX4, Q5MCW4, Q5R9S5, Q5RER9, Q68DY1, Q6JLC9, Q6ZMV8, Q6ZN06, Q6ZN08, Q6ZNA1, Q76KX8, Q86T29, Q86V71, Q8IYN0, Q8N4W9, Q8N7M2, Q8NEM1, Q8TD23

Diamond homologs: A0A1W2PQL4, A6NK75, A6NN14, A6NNF4, A6NP11, A8MQ14, A8MTY0, A8MUV8, A8MXY4, B4DX44, B4DXR9, E9PYI1, O14628, O43345, O75290, O75346, O75373, O75437, O95780, P0CB33, P0DKX0, P0DPD5, P16373, P17019, P17038, P21506, P35789, P52736, P52738, P52744, Q03923, Q03924, Q03936, Q03938, Q05481, Q14586, Q14593, Q14929, Q15928, Q3KNS6

SIGNOR signaling

0 interactions.

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 1 cancer types — NPC.

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance92
Likely benign5
Benign1

Top pathogenic / likely-pathogenic (0)

SpliceAI

961 predictions. Top by Δscore:

VariantEffectΔscore
19:20646266:A:ACdonor_gain1.0000
19:20646267:A:Cdonor_gain1.0000
19:20646318:T:Adonor_gain1.0000
19:20625646:CATTA:Cacceptor_gain0.9900
19:20625648:TTA:Tacceptor_gain0.9900
19:20625649:TA:Tacceptor_gain0.9900
19:20625651:C:CCacceptor_gain0.9900
19:20645278:CTCAG:Cdonor_gain0.9900
19:20645679:CCTA:Cdonor_loss0.9900
19:20645680:CTA:Cdonor_loss0.9900
19:20645682:A:Cdonor_loss0.9900
19:20645683:CCT:Cdonor_loss0.9900
19:20645777:TAC:Tacceptor_gain0.9900
19:20645777:TACC:Tacceptor_loss0.9900
19:20645779:CCTGT:Cacceptor_loss0.9900
19:20645780:C:Gacceptor_loss0.9900
19:20645781:T:Gacceptor_loss0.9900
19:20646262:A:ACdonor_gain0.9900
19:20646263:C:CCdonor_gain0.9900
19:20646274:CTCA:Cdonor_loss0.9900
19:20646275:TCA:Tdonor_loss0.9900
19:20646276:C:CGdonor_loss0.9900
19:20646277:ACC:Adonor_loss0.9900
19:20646278:C:Tdonor_loss0.9900
19:20646402:GTCC:Gacceptor_gain0.9900
19:20646404:CC:Cacceptor_gain0.9900
19:20646404:CCCT:Cacceptor_loss0.9900
19:20646405:CC:Cacceptor_gain0.9900
19:20646405:CCTGA:Cacceptor_loss0.9900
19:20646406:C:Aacceptor_loss0.9900

AlphaMissense

3512 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
19:20624995:G:CF294L0.983
19:20624995:G:TF294L0.983
19:20624997:A:GF294L0.983
19:20624575:G:CF434L0.981
19:20624575:G:TF434L0.981
19:20624577:A:GF434L0.981
19:20624659:A:CF406L0.977
19:20624659:A:TF406L0.977
19:20624661:A:GF406L0.977
19:20624726:A:GL384P0.976
19:20624743:G:CF378L0.976
19:20624743:G:TF378L0.976
19:20624745:A:GF378L0.976
19:20624911:A:CF322L0.976
19:20624911:A:TF322L0.976
19:20624913:A:GF322L0.976
19:20625163:A:CF238L0.973
19:20625163:A:TF238L0.973
19:20625165:A:GF238L0.973
19:20625079:A:CF266L0.972
19:20625079:A:TF266L0.972
19:20625081:A:GF266L0.972
19:20624827:A:CF350L0.969
19:20624827:A:TF350L0.969
19:20624829:A:GF350L0.969
19:20624990:C:GR296P0.969
19:20624491:A:CF462L0.967
19:20624491:A:TF462L0.967
19:20624493:A:GF462L0.967
19:20625247:A:CF210L0.952

dbSNP variants (sampled 300 via entrez): RS1000030527 (19:20651553 G>A), RS1000140112 (19:20645642 T>A), RS1000221820 (19:20657752 C>A), RS1000342226 (19:20663386 G>C), RS1000607368 (19:20626522 A>G,T), RS1000748233 (19:20620671 A>C,G), RS1000868328 (19:20647369 C>G,T), RS1000917051 (19:20640461 C>A), RS1001037430 (19:20652909 A>G), RS1001093812 (19:20646877 C>A,T), RS1001140467 (19:20634421 A>T), RS1001361008 (19:20646505 C>T), RS1001549770 (19:20647070 T>C), RS1001589151 (19:20639647 G>A), RS1001937386 (19:20621504 A>G)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:109730

GenCC curated gene-disease

Mondo (2): primary ovarian failure (MONDO:0005387), aortic valve disease 1 (MONDO:0024523)

Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

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

GWAS associations

3 associations (top):

StudyTraitp-value
GCST001859_51Thiazide-induced adverse metabolic effects in hypertensive patients7.000000e-06
GCST003542_60Night sleep phenotypes1.000000e-06
GCST003901_5Cognitive decline (age-related)7.000000e-07

MeSH disease descriptors (1)

DescriptorNameTree numbers
D016649Primary Ovarian InsufficiencyC12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Aciddecreases expression, decreases methylation, affects expression3
triphenyl phosphateaffects expression1
sodium arseniteaffects cotreatment, increases abundance, increases expression1
manganese chlorideincreases abundance, increases expression, affects cotreatment1
benzo(e)pyreneincreases methylation1
potassium chromate(VI)increases expression1
aflatoxin B2increases methylation1
cupric oxideincreases expression1
di-n-butylphosphoric acidaffects expression1
Resveratrolaffects cotreatment, increases expression1
Vorinostatincreases expression1
Leflunomideincreases expression1
Acetaminophenincreases expression1
Air Pollutantsincreases expression1
Arsenicaffects cotreatment, increases abundance, increases expression1
Benzo(a)pyreneaffects methylation1
Doxorubicindecreases expression1
Manganeseaffects cotreatment, increases abundance, increases expression1
Methapyrileneincreases methylation1
Plant Extractsaffects cotreatment, increases expression1
Tobacco Smoke Pollutiondecreases expression1
Okadaic Aciddecreases expression1
Copper Sulfateincreases expression1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

CellosaurusNameCategorySex
CVCL_XW69HEK293 eGFP-ZNF626Transformed cell lineFemale

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00417066PHASE4COMPLETEDFlexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693PHASE4COMPLETEDEvaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616PHASE4COMPLETEDEstrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501PHASE4UNKNOWNEffects of ADSC Therapy in Women With POF
NCT02783937PHASE4COMPLETEDFilgrastim for Premature Ovarian Insufficiency
NCT03535480PHASE4UNKNOWNAutologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT00140998PHASE3COMPLETEDEstrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT00001951PHASE2COMPLETEDHormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019PHASE2WITHDRAWNEffects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494PHASE2COMPLETEDGnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852PHASE2SUSPENDEDThe Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467PHASE2UNKNOWNPrevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982PHASE2COMPLETEDThe Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
NCT02912104PHASE1COMPLETEDA Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure
NCT03178695PHASE1COMPLETEDInovium Ovarian Rejuvenation Trials
NCT04815213PHASE1ACTIVE_NOT_RECRUITINGThe Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans
NCT05138367PHASE1COMPLETEDEffects of UCA-PSCs in Women With POF
NCT06132542PHASE1UNKNOWNAutologous ADMSC Transplantation in Patients With POI
NCT00948857PHASE2/PHASE3TERMINATEDDehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF)
NCT04031456PHASE2/PHASE3RECRUITINGAutologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients
NCT02043743PHASE1/PHASE2UNKNOWNAutologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure
NCT02062931PHASE1/PHASE2UNKNOWNAutologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure
NCT02151890PHASE1/PHASE2COMPLETEDPregnancy After Stem Cell Transplantation in Premature Ovarian Failure
NCT02372474PHASE1/PHASE2COMPLETEDIt is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure
NCT02603744PHASE1/PHASE2UNKNOWNAutologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF)
NCT02644447PHASE1/PHASE2COMPLETEDTransplantation of HUC-MSCs With Injectable Collagen Scaffold for POF
NCT03069209PHASE1/PHASE2UNKNOWNAutologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF)
NCT03985462PHASE1/PHASE2WITHDRAWNVery Small Embryonic-like Stem Cells for Ovary
NCT04009473PHASE1/PHASE2UNKNOWNStem Cell Therapy and Growth Factor Ovarian in Vitro Activation
NCT04071574PHASE1/PHASE2COMPLETEDComparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility
NCT04922398PHASE1/PHASE2UNKNOWNOvarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency
NCT05462379PHASE1/PHASE2ACTIVE_NOT_RECRUITINGAutologous Heterotopic Fresh Ovarian Graft in Woman With LACC Eligible for Pelvic Radiotherapy Treatment.
NCT06202547PHASE1/PHASE2UNKNOWNIntra-ovarian Injection of MSC-EVs in Idiopathic Premature Ovarian Failure
NCT01129947EARLY_PHASE1WITHDRAWNThe Use of DHEA in Women With Premature Ovarian Failure
NCT05522634EARLY_PHASE1UNKNOWNA Clinical Study of Chinese Herbal Compound TJAOA101 in the Treatment of Premature Ovarian Insufficiency
NCT07308327EARLY_PHASE1ACTIVE_NOT_RECRUITINGThe Influence of Gut Microbiota on Ovarian Function: A Single-center, Randomized,Double Blind, Parallel-controlled, Exploratory Clinical Trial
NCT00001275Not specifiedCOMPLETEDOvarian Follicle Function in Patients With Primary Ovarian Failure
NCT00001306Not specifiedCOMPLETEDSteroid Therapy in Autoimmune Premature Ovarian Failure
NCT00006156Not specifiedCOMPLETEDFeasibility Study for Development of an Early Test for Ovarian Failure
NCT00119925Not specifiedUNKNOWN‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): aortic valve disease 1