MYRIP

gene
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Also known as DKFZp586F1018exophilin-8SLAC2-CSLAC2C

Summary

MYRIP (myosin VIIA and Rab interacting protein, HGNC:19156) is a protein-coding gene on chromosome 3p22.1, encoding Rab effector MyRIP (Q8NFW9). Rab effector protein involved in melanosome transport.

Predicted to enable actin binding activity; myosin binding activity; and protein kinase A binding activity. Predicted to be involved in positive regulation of insulin secretion. Predicted to be located in several cellular components, including cytoplasmic vesicle; perinuclear region of cytoplasm; and photoreceptor outer segment. Predicted to be part of exocyst. Predicted to be active in cortical actin cytoskeleton.

Source: NCBI Gene 25924 — RefSeq curated summary.

At a glance

  • GWAS associations: 5
  • Clinical variants (ClinVar): 52 total
  • MANE Select transcript: NM_015460

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:19156
Approved symbolMYRIP
Namemyosin VIIA and Rab interacting protein
Location3p22.1
Locus typegene with protein product
StatusApproved
AliasesDKFZp586F1018, exophilin-8, SLAC2-C, SLAC2C
Ensembl geneENSG00000170011
Ensembl biotypeprotein_coding
OMIM611790
Entrez25924

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 9 protein_coding, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000302541, ENST00000396217, ENST00000425621, ENST00000444716, ENST00000458292, ENST00000458441, ENST00000459828, ENST00000475082, ENST00000482033, ENST00000539167, ENST00000866103, ENST00000866104, ENST00000966123, ENST00000966124

RefSeq mRNA: 5 — MANE Select: NM_015460 NM_001284423, NM_001284424, NM_001284425, NM_001284426, NM_015460

CCDS: CCDS2689, CCDS68390, CCDS68391, CCDS68392

Canonical transcript exons

ENST00000302541 — 17 exons

ExonStartEnd
ENSE000018133964025813440260321
ENSE000018891273980960939809916
ENSE000034655444025043940250499
ENSE000035006394025022240250326
ENSE000035054074018222040182373
ENSE000035248874004405040044271
ENSE000035545584025188140251999
ENSE000035571544016715940167239
ENSE000035599204015104840151184
ENSE000035607103990078739900926
ENSE000035708644020985440210093
ENSE000035914574024444640244607
ENSE000036034944016273040162810
ENSE000036066084016684640166943
ENSE000036777984016995040170093
ENSE000036851364018982640190463
ENSE000036916664023385940234053

Expression profiles

Bgee: expression breadth ubiquitous, 261 present calls, max score 97.81.

FANTOM5 (CAGE): breadth broad, TPM avg 3.1187 / max 151.3854, expressed in 449 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter IDTPM avgSamples expressed
361651.7215378
361630.3309133
361670.3302158
361640.2821159
361690.270354
361660.094539
361680.077635
2027310.01175

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
pigmented layer of retinaUBERON:000178297.81gold quality
retinaUBERON:000096697.78gold quality
endothelial cellCL:000011597.41gold quality
substantia nigra pars compactaUBERON:000196595.42gold quality
choroid plexus epitheliumUBERON:000391195.22gold quality
Brodmann (1909) area 23UBERON:001355492.95gold quality
parotid glandUBERON:000183192.09gold quality
substantia nigra pars reticulataUBERON:000196692.08gold quality
entorhinal cortexUBERON:000272891.31gold quality
amygdalaUBERON:000187691.05gold quality
orbitofrontal cortexUBERON:000416791.04gold quality
temporal lobeUBERON:000187190.69gold quality
superior frontal gyrusUBERON:000266188.08gold quality
cingulate cortexUBERON:000302787.74gold quality
anterior cingulate cortexUBERON:000983587.74gold quality
dorsolateral prefrontal cortexUBERON:000983487.12gold quality
postcentral gyrusUBERON:000258186.56gold quality
prefrontal cortexUBERON:000045186.22gold quality
parietal lobeUBERON:000187286.05gold quality
frontal cortexUBERON:000187085.98gold quality
neocortexUBERON:000195085.96gold quality
cerebral cortexUBERON:000095685.92gold quality
Brodmann (1909) area 10UBERON:001354185.46gold quality
CA1 field of hippocampusUBERON:000388185.37gold quality
superior vestibular nucleusUBERON:000722785.14gold quality
primary visual cortexUBERON:000243684.89gold quality
Brodmann (1909) area 9UBERON:001354084.88gold quality
paraflocculusUBERON:000535184.60gold quality
right frontal lobeUBERON:000281084.51gold quality
frontal poleUBERON:000279584.37gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

ExperimentMarker?Max mean expression
E-HCAD-35yes69.95
E-CURD-119yes21.15
E-HCAD-25yes7.88
E-ANND-3no0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GATA3

miRNA regulators (miRDB)

146 targeting MYRIP, 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-340-5P100.0072.504437
HSA-MIR-3163100.0077.238605
HSA-MIR-6833-3P100.0070.633197
HSA-MIR-5692A100.0074.406850
HSA-MIR-4768-5P100.0069.492861
HSA-MIR-4789-3P99.9970.752484
HSA-MIR-428299.9975.366408
HSA-MIR-450099.9972.722367
HSA-MIR-34A-5P99.9971.211784
HSA-MIR-449A99.9971.051776
HSA-MIR-569699.9872.364487
HSA-MIR-806899.9873.852376
HSA-LET-7A-5P99.9872.291790
HSA-LET-7B-5P99.9872.311790
HSA-LET-7C-5P99.9872.291790
HSA-LET-7E-5P99.9872.291790
HSA-LET-7F-5P99.9872.561784
HSA-LET-7G-5P99.9872.371784
HSA-LET-7I-5P99.9872.371788
HSA-MIR-98-5P99.9872.331787
HSA-MIR-1250-3P99.9670.044038
HSA-MIR-570-3P99.9672.414910
HSA-MIR-1468-3P99.9672.743797
HSA-MIR-96-5P99.9572.802140
HSA-MIR-545-3P99.9570.742783
HSA-MIR-141-3P99.9472.792421
HSA-MIR-200A-3P99.9472.682420
HSA-MIR-101-3P99.9475.032230
HSA-MIR-9983-3P99.9471.483631
HSA-MIR-335-3P99.9373.364958

Literature-anchored findings (GeneRIF, showing 9)

  • a molecular complex composed of Rab27A, MyRIP and myosin VIIa bridges retinal melanosomes to the actin cytoskeleton and thereby mediates the local trafficking of these organelles (PMID:11964381)
  • Slac2-c/MyRIP contains an N-terminal Slp homology domain (SHD) and functions as a linker protein that interacts with myosin Rab27A/B, VIIa/Va, and actin. (PMID:12221080)
  • Slac2c/MyRIP is part of a complex mediating the interaction of secretory granules with cortical actin cytoskeleton (PMID:14517322)
  • During primate spermiogenesis, dynein, myosin Va, MyRIP and Rab27b that compose microtubule-based and actin-based vesicle transport systems are actually present in the manchette and might possibly be involved in intramanchette transport. (PMID:18478159)
  • Rab27a and MyRIP regulate the amount and multimeric state of VWF released from endothelial cells. (PMID:19270261)
  • A new potentially protective effect was identified at rs2679798 in MYRIP. (PMID:20861866)
  • A Rab27a/MyRIP/myosin Va complex is involved in linking von-Willebrand factor (Vwf) to the peripheral actin cytoskeleton of endothelial cells to allow full maturation and prevent premature secretion of vWF. (PMID:21740491)
  • Myrip couples the retention of secretory granules in the cell cortex, their transport to the plasma membrane, and their attachment to the plasma membrane, thus promoting secretion. (PMID:22396429)
  • The role of MyRIP in Ca(2+)-driven exocytosis requires both MyoVa- and actin-binding potential. (PMID:26675235)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriomyripbENSDARG00000038814
danio_reriomyripaENSDARG00000075706
mus_musculusMyripENSMUSG00000041794
rattus_norvegicusMyripENSRNOG00000018797

Paralogs (2): MLPH (ENSG00000115648), MOBP (ENSG00000168314)

Protein

Protein identifiers

Rab effector MyRIPQ8NFW9 (reviewed: Q8NFW9)

Alternative names: Exophilin-8, Myosin-VIIa- and Rab-interacting protein, Synaptotagmin-like protein lacking C2 domains C

All UniProt accessions (2): Q8NFW9, F8WFC5

UniProt curated annotations — full annotation on UniProt →

Function. Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor proteins MYO5A and MYO7A. May link RAB27A-containing vesicles to actin filaments. Functions as a protein kinase A-anchoring protein (AKAP). May act as a scaffolding protein that links PKA to components of the exocytosis machinery, thus facilitating exocytosis, including insulin release.

Subunit / interactions. Binds MYO5A, MYO7A and F-actin. Binds RAB27A that has been activated by GTP-binding via its N-terminus. Interacts with PRKAR2A. Interacts with components of the exocyst complex, including EXOC3 and EXOC4.

Subcellular location. Cytoplasm. Perinuclear region. Cytoplasmic vesicle. Secretory vesicle.

Tissue specificity. Detected in brain, skin, heart, adrenal medulla, pancreas, intestine, liver, kidney, muscle and testis.

Isoforms (6)

UniProt IDNamesCanonical?
Q8NFW9-11yes
Q8NFW9-22
Q8NFW9-33
Q8NFW9-44
Q8NFW9-55
Q8NFW9-66

RefSeq proteins (5): NP_001271352, NP_001271353, NP_001271354, NP_001271355, NP_056275* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR006788Myrip/MelanophilinDomain
IPR010911Rab_BDDomain
IPR011011Znf_FYVE_PHDHomologous_superfamily
IPR013083Znf_RING/FYVE/PHDHomologous_superfamily
IPR041282FYVE_2Domain
IPR051745Intracell_Transport_EffectorFamily

Pfam: PF02318, PF04698

UniProt features (35 total): region of interest 8, compositionally biased region 7, splice variant 7, sequence conflict 5, sequence variant 3, modified residue 2, chain 1, domain 1, zinc finger region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8NFW9-F158.100.22

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 (2): 298, 350

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

IDPathway
R-HSA-264876Insulin processing
R-HSA-9824585Regulation of MITF-M-dependent genes involved in pigmentation
R-HSA-1266738Developmental Biology
R-HSA-2980736Peptide hormone metabolism
R-HSA-392499Metabolism of proteins
R-HSA-9730414MITF-M-regulated melanocyte development
R-HSA-9856651MITF-M-dependent gene expression

MSigDB gene sets: 199 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOCC_SECRETORY_GRANULE, ATACCTC_MIR202, GOBP_INSULIN_SECRETION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, GOMF_GTPASE_BINDING, GOBP_CELL_CELL_SIGNALING, GTGCCTT_MIR506, CAIRO_HEPATOBLASTOMA_CLASSES_DN, GOBP_POSITIVE_REGULATION_OF_INSULIN_SECRETION, GOBP_REGULATION_OF_PROTEIN_SECRETION, MISSIAGLIA_REGULATED_BY_METHYLATION_UP

GO Biological Process (2): intracellular protein transport (GO:0006886), positive regulation of insulin secretion (GO:0032024)

GO Molecular Function (7): actin binding (GO:0003779), zinc ion binding (GO:0008270), myosin binding (GO:0017022), small GTPase binding (GO:0031267), protein kinase A binding (GO:0051018), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (12): exocyst (GO:0000145), photoreceptor outer segment (GO:0001750), cytosol (GO:0005829), transport vesicle (GO:0030133), cortical actin cytoskeleton (GO:0030864), dense core granule (GO:0031045), melanosome (GO:0042470), synapse (GO:0045202), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737), actin cytoskeleton (GO:0015629), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

Rollup of top-5 pathways:

CategoryPathways
Peptide hormone metabolism1
MITF-M-dependent gene expression1
Metabolism of proteins1
Developmental Biology1
MITF-M-regulated melanocyte development1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure4
cytoplasm3
cytoskeletal protein binding2
intracellular protein localization1
protein transport1
intracellular transport1
insulin secretion1
positive regulation of protein secretion1
regulation of insulin secretion1
positive regulation of peptide hormone secretion1
transition metal ion binding1
GTPase binding1
protein binding1
binding1
cation binding1
cell cortex1
vesicle tethering complex1
photoreceptor cell cilium1
endomembrane system1
cytoplasmic vesicle1
actin cytoskeleton1
cortical cytoskeleton1
secretory granule1
pigment granule1
cell junction1
intracellular anatomical structure1
cytoskeleton1
intracellular vesicle1

Protein interactions and networks

STRING

612 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
MYRIPRAB27AP51159997
MYRIPMYO5AQ9Y4I1988
MYRIPMYO7AP78427978
MYRIPRAB27BO00194957
MYRIPSYTL1Q8IYJ3903
MYRIPEXOC3O60645900
MYRIPEXOC4Q96A65890
MYRIPSYTL2Q9HCH5662
MYRIPPRKACBP22694594
MYRIPPRKACAP17612593
MYRIPPRKACGP22612591
MYRIPUNC13DQ70J99529
MYRIPRIMBP2O15034513
MYRIPSTX4Q12846479
MYRIPCAV1Q03135458

IntAct

22 interactions, top by confidence:

ABTypeScore
MYRIPC1orf216psi-mi:“MI:0915”(physical association)0.720
C1orf216MYRIPpsi-mi:“MI:0915”(physical association)0.720
RAB27BMYRIPpsi-mi:“MI:0915”(physical association)0.560
RAB27AMYRIPpsi-mi:“MI:0915”(physical association)0.560
OIP5MYRIPpsi-mi:“MI:0915”(physical association)0.560
MYRIPDlg4psi-mi:“MI:0407”(direct interaction)0.440
MYRIPCAV1psi-mi:“MI:0915”(physical association)0.400
GRB2MYRIPpsi-mi:“MI:0915”(physical association)0.400
MYRIPNCK1psi-mi:“MI:0915”(physical association)0.400
PIK3R1MYRIPpsi-mi:“MI:0915”(physical association)0.400
C1orf216MYRIPpsi-mi:“MI:0915”(physical association)0.000
RAB27BMYRIPpsi-mi:“MI:0915”(physical association)0.000
RAB27AMYRIPpsi-mi:“MI:0915”(physical association)0.000
MYRIPOIP5psi-mi:“MI:0915”(physical association)0.000
VPS26CMYRIPpsi-mi:“MI:0915”(physical association)0.000

BioGRID (10): C1orf216 (Two-hybrid), MYRIP (Affinity Capture-RNA), MYRIP (Affinity Capture-Western), MYRIP (Two-hybrid), MYRIP (Two-hybrid), MYRIP (Two-hybrid), MYRIP (Two-hybrid), MYRIP (Two-hybrid), MYRIP (Cross-Linking-MS (XL-MS)), PDCD11 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A1L8HBI7, A0A1L8HJK9, A0A1L8HTT5, A6NP61, A8T6P4, C0SPG1, C3VD30, F1N4E5, K7SGN7, O35144, O35253, O70240, O88406, O88566, Q15554, Q1XFL1, Q3ZC82, Q4KLH3, Q5HZN9, Q5JTV8, Q5PQX1, Q5R7A3, Q62315, Q68DK7, Q6P1H6, Q6PDM1, Q6PG95, Q6ZPF3, Q76N89, Q7T3T8, Q7T3T9, Q7T3U0, Q7TNY7, Q7TP65, Q7TSX9, Q80SU3, Q80VM8, Q86XL3, Q8IVF5, Q8K3I4

Diamond homologs: A8T6P4, M3WHG5, Q13875, Q63327, Q7TNY7, Q8K3I4, Q8NFW9, Q8VHQ7, Q91V27, Q96C24, Q9BV36, Q9D2P8, Q9R0Q1, A0FGR8, A0FGR9, A6QP06, A8KBH6, O00443, O00750, O54880, P97610, Q22366, Q3TZZ7, Q4VX76, Q58D79, Q5DTI8, Q5FWL4, Q5M7N9, Q5RAY1, Q61194, Q768S4, Q7ZWU7, Q80T23, Q812E4, Q86UR5, Q8IV01, Q8IYJ3, Q8TDW5, Q920N7, Q99N48

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance43
Likely benign2
Benign2

Top pathogenic / likely-pathogenic (0)

SpliceAI

4189 predictions. Top by Δscore:

VariantEffectΔscore
3:39813310:GC:Gdonor_gain1.0000
3:39813311:C:Gdonor_gain1.0000
3:39893264:G:GTdonor_gain1.0000
3:39900776:T:TAacceptor_gain1.0000
3:39900782:CCCA:Cacceptor_loss1.0000
3:39900784:CAGGT:Cacceptor_loss1.0000
3:39900785:A:ACacceptor_loss1.0000
3:39900786:G:GTacceptor_loss1.0000
3:39900922:CTAAG:Cdonor_loss1.0000
3:39900923:TAAG:Tdonor_loss1.0000
3:39900924:AAGGT:Adonor_loss1.0000
3:39900928:T:Adonor_loss1.0000
3:39923687:G:GTdonor_gain1.0000
3:40044026:A:AGacceptor_gain1.0000
3:40044027:T:Gacceptor_gain1.0000
3:40044035:A:AGacceptor_gain1.0000
3:40044035:ACCTT:Aacceptor_gain1.0000
3:40044036:C:Gacceptor_gain1.0000
3:40044039:T:TAacceptor_gain1.0000
3:40044040:G:Aacceptor_gain1.0000
3:40044047:CA:Cacceptor_loss1.0000
3:40044047:CAGTG:Cacceptor_gain1.0000
3:40044048:A:AGacceptor_gain1.0000
3:40044048:AGT:Aacceptor_gain1.0000
3:40044048:AGTG:Aacceptor_gain1.0000
3:40044049:G:GAacceptor_gain1.0000
3:40044049:GT:Gacceptor_gain1.0000
3:40044049:GTG:Gacceptor_gain1.0000
3:40044049:GTGA:Gacceptor_gain1.0000
3:40044049:GTGAG:Gacceptor_gain1.0000

AlphaMissense

5630 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
3:39900869:T:AV18D0.999
3:39900899:T:CL28P0.999
3:40167217:T:CL236P0.999
3:39900845:T:CL10S0.998
3:39900881:T:AV22D0.998
3:39900890:A:CD25A0.998
3:39900890:A:TD25V0.998
3:39900901:C:AR29S0.998
3:40044130:G:AC64Y0.998
3:40044131:C:GC64W0.998
3:40044249:T:CC104R0.998
3:40151073:T:AW120R0.998
3:40151073:T:CW120R0.998
3:40151100:T:CF129L0.998
3:40151102:C:AF129L0.998
3:40151102:C:GF129L0.998
3:40151109:T:CF132L0.998
3:40151111:T:AF132L0.998
3:40151111:T:GF132L0.998
3:40166887:G:CA198P0.998
3:40166888:C:AA198D0.998
3:40166908:G:CA205P0.998
3:40167184:T:CL225P0.998
3:39900890:A:GD25G0.997
3:39900891:C:AD25E0.997
3:39900891:C:GD25E0.997
3:39900902:G:CR29P0.997
3:39900920:G:CR35P0.997
3:40044129:T:CC64R0.997
3:40044180:T:CC81R0.997

dbSNP variants (sampled 300 via entrez): RS1000005579 (3:40145706 T>C), RS1000014941 (3:39935929 C>T), RS1000015530 (3:40059465 G>A), RS1000033379 (3:40192375 A>G,T), RS1000038786 (3:39836844 C>A), RS1000059526 (3:40068400 G>A), RS1000073976 (3:39943258 T>G), RS1000077708 (3:40209425 A>G), RS1000084825 (3:39959506 C>T), RS1000091523 (3:40133955 C>A,T), RS1000092137 (3:39837110 A>G), RS1000102501 (3:40259544 C>T), RS1000103866 (3:40112820 A>G), RS1000106457 (3:40192676 C>T), RS1000107369 (3:39934358 A>C)

Disease associations

OMIM: gene MIM:611790 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

StudyTraitp-value
GCST000081_1Sleep-related phenotypes1.000000e-07
GCST000905_1Information processing speed9.000000e-06
GCST001693_1Acute lymphoblastic leukemia (childhood)2.000000e-07
GCST007470_4Rapid automatized naming of letters8.000000e-06
GCST009200_3Whole brain grey matter density7.000000e-06

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0004363information processing speed
EFO:0005301reading and spelling ability
EFO:0010306Grey matter density measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneaffects methylation, decreases expression, increases methylation4
Valproic Acidincreases expression, decreases expression4
Aflatoxin B1decreases expression, decreases methylation4
Estradioldecreases expression, affects cotreatment, increases expression2
Nickeldecreases expression2
FR900359increases phosphorylation1
bisphenol Fdecreases methylation1
methyleugenoldecreases expression1
pirinixic acidaffects binding, decreases expression, increases activity1
bisphenol Aaffects cotreatment, increases methylation, decreases methylation1
methylselenic aciddecreases expression1
ethyl-p-hydroxybenzoateincreases expression1
terbufosincreases methylation1
trichostatin Aincreases expression1
arseniteincreases methylation1
sulforaphanedecreases expression1
ferrous chloridedecreases expression1
aflatoxin B2increases methylation1
perfluorooctane sulfonic aciddecreases expression1
CGP 52608affects binding, increases reaction1
prothioconazoleincreases expression1
Fulvestrantaffects cotreatment, increases methylation1
Acetaminophendecreases expression1
Arsenicaffects methylation1
Cadmiumincreases abundance, increases expression1
Fonofosincreases methylation1
Methapyrilenedecreases expression1
Parathionincreases methylation1
Phenobarbitalaffects expression1
Phthalic Acidsincreases methylation1

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): acute lymphoblastic leukemia