FGGY

gene
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Also known as FLJ10986

Summary

FGGY (FGGY carbohydrate kinase domain containing, HGNC:25610) is a protein-coding gene on chromosome 1p32.1, encoding FGGY carbohydrate kinase domain-containing protein (Q96C11). Catalyzes ATP-dependent phosphorylation of D-ribulose at C-5 to form D-ribulose 5-phosphate.

This gene encodes a protein that phosphorylates carbohydrates such as ribulose, ribitol, and L-arabinitol. Genome-wide association studies in some populations have found an association between polymorphisms in this gene and sporadic amyotrophic lateral sclerosis, but studies of other populations have not been able to replicate this association. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 55277 — RefSeq curated summary.

At a glance

  • GWAS associations: 18
  • Clinical variants (ClinVar): 120 total
  • MANE Select transcript: NM_018291

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:25610
Approved symbolFGGY
NameFGGY carbohydrate kinase domain containing
Location1p32.1
Locus typegene with protein product
StatusApproved
AliasesFLJ10986
Ensembl geneENSG00000172456
Ensembl biotypeprotein_coding
OMIM611370
Entrez55277

Gene structure

Transcript identifiers

Ensembl transcripts: 60 — 41 protein_coding, 11 protein_coding_CDS_not_defined, 7 nonsense_mediated_decay, 1 retained_intron

ENST00000303721, ENST00000371210, ENST00000371212, ENST00000371218, ENST00000413489, ENST00000424725, ENST00000430447, ENST00000462744, ENST00000466791, ENST00000471169, ENST00000472783, ENST00000474476, ENST00000475949, ENST00000476939, ENST00000480847, ENST00000485720, ENST00000493891, ENST00000495718, ENST00000582567, ENST00000583635, ENST00000634364, ENST00000634399, ENST00000634606, ENST00000635156, ENST00000635297, ENST00000894270, ENST00000894271, ENST00000894272, ENST00000894273, ENST00000894274, ENST00000894275, ENST00000894276, ENST00000894277, ENST00000894278, ENST00000894279, ENST00000894280, ENST00000894281, ENST00000894282, ENST00000894283, ENST00000894284, ENST00000894285, ENST00000894286, ENST00000894287, ENST00000894288, ENST00000894289, ENST00000894290, ENST00000894291, ENST00000894292, ENST00000894293, ENST00000894294, ENST00000939057, ENST00000939058, ENST00000941446, ENST00000941447, ENST00000941448, ENST00000941449, ENST00000941450, ENST00000941451, ENST00000941452, ENST00000941453

RefSeq mRNA: 14 — MANE Select: NM_018291 NM_001113411, NM_001244714, NM_001278224, NM_001350790, NM_001350791, NM_001350792, NM_001350793, NM_001350794, NM_001350795, NM_001350796, NM_001350797, NM_001350798, NM_001350799, NM_018291

CCDS: CCDS44155, CCDS58003, CCDS60155, CCDS611

Canonical transcript exons

ENST00000303721 — 16 exons

ExonStartEnd
ENSE000034691765937874959378837
ENSE000034732095966728359667403
ENSE000034903525955412459554227
ENSE000034963545966021959660293
ENSE000035479135934624759346398
ENSE000035594105951231159512439
ENSE000035925585933995859340069
ENSE000036038475962598859626049
ENSE000036094605932153659321750
ENSE000036163185967403959674133
ENSE000036258375975793159757992
ENSE000036273475960780359607910
ENSE000036480445945696159457076
ENSE000036539805976250359762730
ENSE000036874185963822859638375
ENSE000039029845929709459297150

Expression profiles

Bgee: expression breadth ubiquitous, 213 present calls, max score 96.18.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.6521 / max 87.1634, expressed in 1746 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter IDTPM avgSamples expressed
30434.43051565
30411.1039573
30420.5612310
30520.344694
30490.047819
30510.033716
30440.030913
30500.029710
30460.02955
2015270.02386

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
right lobe of liverUBERON:000111496.18gold quality
hindlimb stylopod muscleUBERON:000425292.29gold quality
gastrocnemiusUBERON:000138892.12gold quality
muscle of legUBERON:000138391.98gold quality
liverUBERON:000210791.87gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099191.12gold quality
olfactory segment of nasal mucosaUBERON:000538689.58gold quality
calcaneal tendonUBERON:000370189.05gold quality
muscle organUBERON:000163088.81gold quality
right adrenal glandUBERON:000123388.64gold quality
right adrenal gland cortexUBERON:003582788.55gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451188.35gold quality
colonic epitheliumUBERON:000039788.08gold quality
minor salivary glandUBERON:000183088.05gold quality
corpus epididymisUBERON:000435987.92gold quality
gluteal muscleUBERON:000200087.77gold quality
left adrenal gland cortexUBERON:003582587.07gold quality
left adrenal glandUBERON:000123487.03gold quality
sural nerveUBERON:001548886.78gold quality
body of pancreasUBERON:000115086.70gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047386.42gold quality
right uterine tubeUBERON:000130286.15gold quality
ventricular zoneUBERON:000305386.04gold quality
adenohypophysisUBERON:000219685.96gold quality
adrenal glandUBERON:000236985.53gold quality
adrenal cortexUBERON:000123585.22gold quality
saliva-secreting glandUBERON:000104484.96gold quality
mouth mucosaUBERON:000372984.80gold quality
pituitary glandUBERON:000000784.51gold quality
adrenal tissueUBERON:001830384.28gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

ExperimentMarker?Max mean expression
E-HCAD-1yes87.04
E-CURD-119yes60.89
E-MTAB-10553yes24.89
E-ANND-3yes23.81
E-HCAD-9yes11.55

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

6 targeting FGGY, 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-806899.9873.852376
HSA-MIR-127299.3468.79878
HSA-MIR-5589-3P99.2968.301443
HSA-MIR-4777-3P99.1568.92626
HSA-MIR-875-5P96.7466.48579
HSA-MIR-193A-5P95.7065.33613

Literature-anchored findings (GeneRIF, showing 7)

  • Variants of FLJ10986 may confer susceptibility to sporadic ALS (amyotrophic lateral sclerosis). (PMID:17671248)
  • The result of this study suggested that FLJI0986 that do not modulate the risk for SALS in the German population. (PMID:19464757)
  • Results suggest that common genetic variation in FGGY is not associated with susceptibility to sporadic ALS in genetically homogeneous populations from northern Europe. (PMID:19922138)
  • This study indicated that mutations in fggy genes are unlikely to be a common cause of ALS in the French and French Canadian populations. (PMID:20001489)
  • Single-nucleotide polymorphism in FGGY is not associated with amyotrophic lateral sclerosis in a large Chinese cohort. (PMID:24439956)
  • S. cerevisiae Ydr109c and human FGGY could act as metabolite repair enzymes, serving to re-phosphorylate free d-ribulose generated by promiscuous phosphatases from d-ribulose 5-phosphate. In human cells, FGGY can additionally participate in ribitol metabolism. (PMID:27909055)
  • LINE-1-FGGY expression corresponded with smoke-induced LINE-1 promoter hypomethylation, lipid metabolism dysregulation, and immune microenvironment alteration in the lung squamous cell carcinoma. (PMID:31289132)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriofggyENSDARG00000038667
mus_musculusFggyENSMUSG00000028573
rattus_norvegicusFggyENSRNOG00000008907
drosophila_melanogasterCG11594FBGN0035484

Paralogs (6): XYLB (ENSG00000093217), GK5 (ENSG00000175066), GK2 (ENSG00000196475), SHPK (ENSG00000197417), GK (ENSG00000198814), GK3 (ENSG00000229894)

Protein

Protein identifiers

FGGY carbohydrate kinase domain-containing proteinQ96C11 (reviewed: Q96C11)

Alternative names: D-ribulokinase FGGY

All UniProt accessions (9): A0A0U1RQJ1, A0A0U1RQS3, A0A0U1RR53, A0A0U1RRB9, A0A0U1RRI8, C9J015, Q96C11, F2Z2V1, J3QKV9

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes ATP-dependent phosphorylation of D-ribulose at C-5 to form D-ribulose 5-phosphate. Postulated to function in a metabolite repair mechanism by preventing toxic accumulation of free D-ribulose formed by non-specific phosphatase activities. Alternatively, may play a role in regulating D-ribulose 5-phosphate recycling in the pentose phosphate pathway. Can phosphorylate ribitol with low efficiency.

Tissue specificity. Expressed in kidney, lung and small intestine and to a lower extent in liver and detected in cerebrospinal fluid (at protein level).

Disease relevance. Amyotrophic lateral sclerosis (ALS) [MIM:105400] A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Pathway. Carbohydrate metabolism; pentose and glucuronate interconversion.

Similarity. Belongs to the FGGY kinase family.

Isoforms (6)

UniProt IDNamesCanonical?
Q96C11-11yes
Q96C11-22
Q96C11-43
Q96C11-34
Q96C11-55
Q96C11-66

RefSeq proteins (14): NP_001106882, NP_001231643, NP_001265153, NP_001337719, NP_001337720, NP_001337721, NP_001337722, NP_001337723, NP_001337724, NP_001337725, NP_001337726, NP_001337727, NP_001337728, NP_060761* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000577Carb_kinase_FGGYFamily
IPR006003FGGY_RbtK-likeFamily
IPR018484FGGY_NDomain
IPR018485FGGY_CDomain
IPR043129ATPase_NBDHomologous_superfamily

Pfam: PF00370, PF02782

Enzyme classification (BRENDA):

  • EC 2.7.1.47 — D-ribulokinase (BRENDA: 3 organisms, 10 substrates, 3 inhibitors, 10 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.

SubstrateKm (mM)Measurements
D-RIBULOSE0.097–0.924
RIBITOL1.468–2202
ATP0.831
D-ARABITOL1401

Catalyzed reactions (Rhea), 1 shown:

  • D-ribulose + ATP = D-ribulose 5-phosphate + ADP + H(+) (RHEA:17601)

UniProt features (9 total): splice variant 5, sequence variant 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q96C11-F196.130.96

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 127 (showing top): ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_CARBOHYDRATE_PHOSPHORYLATION, TCF4_Q5, DAVICIONI_RHABDOMYOSARCOMA_PAX_FOXO1_FUSION_UP, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, DOUGLAS_BMI1_TARGETS_DN, GOBP_MONOSACCHARIDE_METABOLIC_PROCESS, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, GOBP_PENTOSE_METABOLIC_PROCESS, GRYDER_PAX3FOXO1_TOP_ENHANCERS, GOBP_HOMEOSTATIC_PROCESS, GOMF_KINASE_ACTIVITY, GOMF_CARBOHYDRATE_KINASE_ACTIVITY, YOSHIMURA_MAPK8_TARGETS_UP, DODD_NASOPHARYNGEAL_CARCINOMA_DN

GO Biological Process (4): pentose metabolic process (GO:0019321), carbohydrate phosphorylation (GO:0046835), neuron cellular homeostasis (GO:0070050), carbohydrate metabolic process (GO:0005975)

GO Molecular Function (4): D-ribulokinase activity (GO:0019150), kinase activity (GO:0016301), transferase activity (GO:0016740), phosphotransferase activity, alcohol group as acceptor (GO:0016773)

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

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
transferase activity, transferring phosphorus-containing groups2
monosaccharide metabolic process1
carbohydrate metabolic process1
phosphorylation1
cellular homeostasis1
primary metabolic process1
phosphotransferase activity, alcohol group as acceptor1
carbohydrate kinase activity1
catalytic activity1
intracellular anatomical structure1
cellular anatomical structure1

Protein interactions and networks

STRING

2107 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
FGGYSHPKQ9UHJ6878
FGGYCTNSO60931711
FGGYELP3Q9H9T3693
FGGYDPP6P42658629
FGGYDCTN1Q14203624
FGGYKIFAP3Q92845571
FGGYITPR2Q14571571
FGGYUNC13AQ9UPW8571
FGGYATXN2Q99700506
FGGYTM2D1Q9BX74493
FGGYVAPBO95292491
FGGYCHRNB4P30926490
FGGYCHRNA4P43681490
FGGYRBM33Q96EV2489
FGGYSMN1Q16637477

IntAct

4 interactions, top by confidence:

ABTypeScore
NSFL1CVCPpsi-mi:“MI:0914”(association)0.970
FGGYMRPS22psi-mi:“MI:0915”(physical association)0.400
FGGYEAF1psi-mi:“MI:0915”(physical association)0.400

BioGRID (10): EAF1 (Affinity Capture-MS), FGGY (Affinity Capture-MS), FGGY (Affinity Capture-MS), EAF1 (Affinity Capture-MS), FGGY (Affinity Capture-RNA), FGGY (Proximity Label-MS), EAF1 (Affinity Capture-MS), FGGY (Affinity Capture-MS), FGGY (Cross-Linking-MS (XL-MS)), FGGY (Affinity Capture-RNA)

ESM2 similar proteins: A2AJL3, A4IPA2, A6QM00, B2VEQ9, B7GGV9, O75191, P0CQ14, P0CQ15, P30646, P37677, P44399, P94524, Q0CH39, Q0P4K0, Q0TVK3, Q2GXN6, Q32LQ3, Q3MIF4, Q3SYZ6, Q3TNA1, Q49V87, Q4V7F3, Q58H57, Q5E9S4, Q5KYP6, Q5R5P3, Q5R830, Q5WL06, Q65GC1, Q6DCD1, Q6FLI1, Q6JQN1, Q6NUW9, Q6PEB4, Q758R9, Q87FK5, Q8BH55, Q8BWU8, Q8IYQ7, Q8K370

Diamond homologs: A1TGD7, A2AJL3, Q04585, Q4R4D5, Q65GC1, Q6DCD1, Q6NUW9, Q826J2, Q96C11, Q9LBQ3, Q9NJP9, Q9RJM2, P11553, P44399, Q8A1A3, Q8X6R3, Q8Z428, Q8ZMC5, P95907, A1A7B0, A4IPA2, A4W6G7, A5ISI2, A6QEK4, A6QGJ8, A6T4K1, A6U1B8, A7WYY2, A7X1U3, A7ZHF4, A7ZW13, A8ALN9, A8FQ89, A8GE05, A8Z1X0, A9MQF0, A9MYN9, B1IRB5, B1KKY8, B1LFZ7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance91
Likely benign5
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

6044 predictions. Top by Δscore:

VariantEffectΔscore
1:59321747:AAAGG:Adonor_loss1.0000
1:59321748:AAGGT:Adonor_loss1.0000
1:59321750:GGTA:Gdonor_loss1.0000
1:59321751:GTAT:Gdonor_loss1.0000
1:59321752:T:Adonor_loss1.0000
1:59339951:A:AGacceptor_gain1.0000
1:59339952:A:Gacceptor_gain1.0000
1:59339957:GAAA:Gacceptor_gain1.0000
1:59340065:GGAAG:Gdonor_gain1.0000
1:59340066:GAAGG:Gdonor_gain1.0000
1:59351297:C:Gdonor_gain1.0000
1:59512299:A:AGacceptor_gain1.0000
1:59512299:AT:Aacceptor_gain1.0000
1:59512300:T:Gacceptor_gain1.0000
1:59512300:T:TAacceptor_gain1.0000
1:59512305:A:AGacceptor_gain1.0000
1:59512306:C:Gacceptor_gain1.0000
1:59512306:CCCA:Cacceptor_loss1.0000
1:59512307:CCAG:Cacceptor_loss1.0000
1:59512308:CAGG:Cacceptor_loss1.0000
1:59512309:A:AGacceptor_gain1.0000
1:59512309:AG:Aacceptor_gain1.0000
1:59512310:G:GCacceptor_gain1.0000
1:59512310:GG:Gacceptor_gain1.0000
1:59512434:GAC:Gdonor_gain1.0000
1:59515433:GAAA:Gdonor_gain1.0000
1:59515436:A:AGdonor_gain1.0000
1:59515436:A:Gdonor_gain1.0000
1:59625982:TTTCA:Tacceptor_loss1.0000
1:59625983:TTCA:Tacceptor_loss1.0000

AlphaMissense

3613 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
1:59346273:T:AW114R0.998
1:59346273:T:CW114R0.998
1:59512419:A:TD260V0.998
1:59456970:C:GC188W0.997
1:59512419:A:CD260A0.997
1:59512420:T:AD260E0.997
1:59512420:T:GD260E0.997
1:59340009:G:CA85P0.996
1:59456986:T:AW194R0.996
1:59456986:T:CW194R0.996
1:59512419:A:GD260G0.996
1:59607836:T:AW313R0.996
1:59607836:T:CW313R0.996
1:59607839:G:AG314R0.996
1:59607839:G:CG314R0.996
1:59607876:T:CL326P0.996
1:59340017:T:GC87W0.995
1:59346280:A:TD116V0.995
1:59456968:T:CC188R0.995
1:59456982:T:GC192W0.995
1:59456985:G:CK193N0.995
1:59456985:G:TK193N0.995
1:59554218:T:GC298W0.995
1:59607840:G:AG314E0.995
1:59660285:G:CA430P0.995
1:59321726:G:CW59C0.994
1:59321726:G:TW59C0.994
1:59346286:G:CR118P0.994
1:59512401:T:AV254D0.994
1:59512418:G:CD260H0.994

dbSNP variants (sampled 300 via entrez): RS1000004708 (1:59706320 G>A), RS1000010106 (1:59488026 T>G), RS1000018536 (1:59339397 A>T), RS1000025677 (1:59640146 C>A), RS1000032875 (1:59630055 A>C), RS1000038847 (1:59554569 T>A), RS1000039562 (1:59668836 A>C,G), RS1000041871 (1:59450308 T>G), RS1000051155 (1:59371696 A>G), RS1000058475 (1:59587024 G>A), RS1000060352 (1:59497947 A>G), RS1000073044 (1:59450061 G>T), RS1000080700 (1:59598466 T>G), RS1000090049 (1:59756740 C>A,T), RS1000091816 (1:59673904 G>A)

Disease associations

OMIM: gene MIM:611370 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

18 associations (top):

StudyTraitp-value
GCST000514_5Response to antipsychotic therapy (extrapyramidal side effects)7.000000e-06
GCST001059_19Neutrophil count3.000000e-06
GCST001762_168Obesity-related traits5.000000e-06
GCST001762_741Obesity-related traits2.000000e-06
GCST002700_4Cervical artery dissection2.000000e-07
GCST003158_1Subjective response to lithium treatment6.000000e-07
GCST004278_51Pulse pressure2.000000e-24
GCST004651_5Aortic root size3.000000e-09
GCST004775_2Pulse pressure5.000000e-07
GCST004775_36Pulse pressure3.000000e-20
GCST007102_1Seasonality and depression3.000000e-06
GCST009615_1Triglyceride levels x loop diuretics use interaction6.000000e-08
GCST009615_2Triglyceride levels x loop diuretics use interaction4.000000e-06
GCST010796_1312Electrocardiogram morphology (amplitude at temporal datapoints)1.000000e-08
GCST010796_1313Electrocardiogram morphology (amplitude at temporal datapoints)2.000000e-09
GCST90002393_32Monocyte count6.000000e-10
GCST90002394_138Monocyte percentage of white cells5.000000e-15
GCST90011899_102Aspartate aminotransferase levels2.000000e-10

EFO canonical traits (9, from GWAS)

EFO IDTrait name
EFO:0004833neutrophil count
EFO:0004501HOMA-IR
EFO:0005763pulse pressure measurement
EFO:0006876seasonality measurement
EFO:0004530triglyceride measurement
EFO:0004327electrocardiography
EFO:0005091monocyte count
EFO:0007989monocyte percentage of leukocytes
EFO:0004736aspartate aminotransferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Benzo(a)pyrenedecreases expression, increases methylation6
Aflatoxin B1affects expression, decreases expression, increases methylation5
Arsenicaffects methylation, increases abundance, increases expression, affects cotreatment, decreases expression3
bisphenol Adecreases methylation, increases expression, affects cotreatment2
sodium arseniteaffects cotreatment, decreases expression, increases abundance, increases expression2
bufotalindecreases expression1
methylmercuric chloridedecreases expression1
methyleugenoldecreases expression1
alpha phellandreneincreases expression1
triphenyl phosphateaffects expression1
sodium arsenateincreases abundance, increases expression1
ethyl-p-hydroxybenzoatedecreases expression1
3,4,5,3’,4’-pentachlorobiphenyldecreases expression1
benzo(e)pyreneincreases methylation1
aflatoxin B2increases methylation1
di-n-butylphosphoric acidaffects expression1
quinocetoneincreases expression1
bisphenol Sincreases methylation1
jinfukangincreases expression1
Sunitinibincreases expression1
Fulvestrantaffects cotreatment, decreases methylation1
Acetaminophendecreases expression1
Air Pollutantsdecreases expression1
Atrazineincreases expression1
Cadmiumincreases expression, decreases reaction1
Cisplatindecreases expression1
Methapyrileneincreases methylation1
N-Nitrosopyrrolidinedecreases expression1
Nickeldecreases expression1
Seleniumdecreases reaction, increases expression1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

CellosaurusNameCategorySex
CVCL_SN55HAP1 FGGY (-) 1Cancer cell lineMale
CVCL_XN76HAP1 FGGY (-) 2Cancer cell lineMale

Clinical trials (associated diseases)

0 trials 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): cervical artery dissection