Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	23209
Gene name	Modulator of VRAC current 1
Gene symbol	MLC1
Synonyms (NCBI Gene)	LVMMLCVL
Chromosome	22
Chromosome location	22q13.33
Summary	The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an aut

Show/Hide all (40)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80358241	->G	Pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs80358242	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs80358243	A>G,T	Likely-pathogenic	Intron variant
rs80358245	G>A	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs121908343	G>A,T	Pathogenic	Intron variant, synonymous variant, non coding transcript variant, missense variant, coding sequence variant
rs121908344	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs121908345	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs184241759	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs200463656	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs267607236	GAGT>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs281875309	G>A	Pathogenic, not-provided	Intron variant, 5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs281875313	G>A,T	Not-provided, likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs281875317	C>G,T	Not-provided, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs755271052	C>G,T	Likely-pathogenic	Splice acceptor variant, intron variant
rs761620701	C>T	Likely-pathogenic	Splice donor variant
rs764669598	G>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs764754702	G>A,C	Likely-pathogenic, likely-benign	Non coding transcript variant, intron variant, synonymous variant, stop gained, coding sequence variant
rs765879182	C>A,T	Likely-pathogenic	Splice donor variant, intron variant
rs769135961	C>T	Likely-pathogenic	Splice donor variant
rs779971307	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs786204747	A>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs794729233	C>-	Pathogenic	Non coding transcript variant, intron variant, 5 prime UTR variant, frameshift variant, coding sequence variant
rs1057516286	->T	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1057516336	AT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1057516465	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1057516766	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1057517090	AGCAGGA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1057517228	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1057517375	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1114167286	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1183818307	T>C	Pathogenic	Intron variant, splice acceptor variant
rs1555962581	A>G,T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, stop lost, terminator codon variant
rs1555963392	C>T	Likely-pathogenic	Intron variant, splice donor variant
rs1555967227	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555967644	TGAATAACATTTACCACCTATTTCCAGCTCAACAAACATTTGCTGACACCATTCGTGGGAGTGGGGCTGTGGGTGTCAGGCGTCTGCGCGAAGCTCGTGTGAACTCACGTTTATTGCTGATGGGTTCAGGACTAGTTTGCATCCAAACCAAATTAAACACGTAGTGGTCACAGCAAACGTGGAAACAAACAATATCTGAAAGTTGGGAATCTGAAAAACAAGGCAGGAGGGGTTTTCCTTCTTTGAATAATAAAA	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, splice acceptor variant, splice donor variant
rs1555967668	->A	Likely-pathogenic	Intron variant, splice donor variant
rs1555968785	C>-	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, frameshift variant
rs1569242061	G>A	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, stop gained
rs1602049346	TGAATAACATTTACCACCTATTTCCAGCTCAACAAACATTTGCTGACACCATTCGTGGGAGTGGGGCTGTGGGTGTCAGGCGTCTGCGCGAAGCTCGTGTGAACTCACGTTTATTGCTGATGGGTTCAGGACTAGTTTGCATCCAAACCAAATTAAACACGTAGTGGTCACAGCAAACGTGGAAACAAACAATATCTGAAAGTTGGGAATCTGAAAAACAAGGCAGGAGGGGTTTTCCTTCTTTGAATAATAAAA	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, splice acceptor variant, splice donor variant
rs1602063709	C>T	Pathogenic	5 prime UTR variant, intron variant, non coding transcript variant, coding sequence variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017034	hsa-miR-335-5p	Microarray	18185580
MIRT1150585	hsa-miR-1184	CLIP-seq
MIRT1150586	hsa-miR-150	CLIP-seq
MIRT1150587	hsa-miR-3157-3p	CLIP-seq
MIRT1150588	hsa-miR-342-3p	CLIP-seq
MIRT1150589	hsa-miR-3665	CLIP-seq
MIRT1150590	hsa-miR-4290	CLIP-seq
MIRT1150591	hsa-miR-4293	CLIP-seq
MIRT1150592	hsa-miR-4713-5p	CLIP-seq
MIRT1150593	hsa-miR-4736	CLIP-seq
MIRT1150594	hsa-miR-486-3p	CLIP-seq
MIRT1150595	hsa-miR-532-3p	CLIP-seq
MIRT1150596	hsa-miR-661	CLIP-seq
MIRT1150597	hsa-miR-662	CLIP-seq
MIRT1150598	hsa-miR-764	CLIP-seq
MIRT1150599	hsa-miR-874	CLIP-seq
MIRT1150600	hsa-miR-1203	CLIP-seq
MIRT1150601	hsa-miR-1288	CLIP-seq
MIRT1150602	hsa-miR-194	CLIP-seq
MIRT1150603	hsa-miR-22	CLIP-seq
MIRT1150604	hsa-miR-2467-3p	CLIP-seq
MIRT1150605	hsa-miR-2861	CLIP-seq
MIRT1150606	hsa-miR-3131	CLIP-seq
MIRT1150607	hsa-miR-3158-5p	CLIP-seq
MIRT1150608	hsa-miR-3169	CLIP-seq
MIRT1150609	hsa-miR-3657	CLIP-seq
MIRT1150610	hsa-miR-3667-3p	CLIP-seq
MIRT1150611	hsa-miR-3678-3p	CLIP-seq
MIRT1150612	hsa-miR-3973	CLIP-seq
MIRT1150613	hsa-miR-3978	CLIP-seq
MIRT1150614	hsa-miR-4418	CLIP-seq
MIRT1150615	hsa-miR-4512	CLIP-seq
MIRT1150616	hsa-miR-4669	CLIP-seq
MIRT1150617	hsa-miR-509-3-5p	CLIP-seq
MIRT1150618	hsa-miR-509-5p	CLIP-seq
MIRT1150619	hsa-miR-520g	CLIP-seq
MIRT1150620	hsa-miR-520h	CLIP-seq
MIRT1150621	hsa-miR-548a-5p	CLIP-seq
MIRT1150622	hsa-miR-548ab	CLIP-seq
MIRT1150623	hsa-miR-548ak	CLIP-seq
MIRT1150624	hsa-miR-548b-5p	CLIP-seq
MIRT1150625	hsa-miR-548c-5p	CLIP-seq
MIRT1150626	hsa-miR-548d-5p	CLIP-seq
MIRT1150627	hsa-miR-548h	CLIP-seq
MIRT1150628	hsa-miR-548i	CLIP-seq
MIRT1150629	hsa-miR-548j	CLIP-seq
MIRT1150630	hsa-miR-548w	CLIP-seq
MIRT1150631	hsa-miR-548y	CLIP-seq
MIRT1150632	hsa-miR-558	CLIP-seq
MIRT1150633	hsa-miR-559	CLIP-seq
MIRT1150634	hsa-miR-611	CLIP-seq
MIRT1150635	hsa-miR-802	CLIP-seq
MIRT1150636	hsa-miR-892a	CLIP-seq
MIRT1150637	hsa-miR-943	CLIP-seq
MIRT1150638	hsa-miR-944	CLIP-seq
MIRT2042873	hsa-miR-1205	CLIP-seq
MIRT2042874	hsa-miR-1909	CLIP-seq
MIRT2042875	hsa-miR-320a	CLIP-seq
MIRT2042876	hsa-miR-320b	CLIP-seq
MIRT2042877	hsa-miR-320c	CLIP-seq
MIRT2042878	hsa-miR-320d	CLIP-seq
MIRT2042879	hsa-miR-330-3p	CLIP-seq
MIRT2042880	hsa-miR-4270	CLIP-seq
MIRT2042881	hsa-miR-4429	CLIP-seq
MIRT2042882	hsa-miR-4441	CLIP-seq
MIRT2272514	hsa-miR-1208	CLIP-seq
MIRT2272515	hsa-miR-198	CLIP-seq
MIRT2272516	hsa-miR-665	CLIP-seq
MIRT2454163	hsa-miR-3155	CLIP-seq
MIRT2454164	hsa-miR-3155b	CLIP-seq
MIRT2454165	hsa-miR-3184	CLIP-seq
MIRT2454166	hsa-miR-423-5p	CLIP-seq
MIRT2454167	hsa-miR-4779	CLIP-seq
MIRT2454168	hsa-miR-484	CLIP-seq
MIRT2454169	hsa-miR-516b	CLIP-seq
MIRT2454170	hsa-miR-760	CLIP-seq
MIRT2454171	hsa-miR-765	CLIP-seq
MIRT2571428	hsa-miR-1207-3p	CLIP-seq
MIRT2571429	hsa-miR-296-5p	CLIP-seq
MIRT2454163	hsa-miR-3155	CLIP-seq
MIRT2454164	hsa-miR-3155b	CLIP-seq
MIRT2454165	hsa-miR-3184	CLIP-seq
MIRT2454166	hsa-miR-423-5p	CLIP-seq
MIRT2571430	hsa-miR-431	CLIP-seq
MIRT2571431	hsa-miR-4646-5p	CLIP-seq
MIRT2571432	hsa-miR-4711-3p	CLIP-seq
MIRT2571433	hsa-miR-4747-5p	CLIP-seq
MIRT2571434	hsa-miR-4763-5p	CLIP-seq
MIRT2454167	hsa-miR-4779	CLIP-seq
MIRT2454168	hsa-miR-484	CLIP-seq
MIRT2454169	hsa-miR-516b	CLIP-seq
MIRT2571435	hsa-miR-646	CLIP-seq
MIRT2454170	hsa-miR-760	CLIP-seq
MIRT2454171	hsa-miR-765	CLIP-seq
MIRT2571428	hsa-miR-1207-3p	CLIP-seq
MIRT2571430	hsa-miR-431	CLIP-seq
MIRT2571431	hsa-miR-4646-5p	CLIP-seq
MIRT2571432	hsa-miR-4711-3p	CLIP-seq
MIRT2571433	hsa-miR-4747-5p	CLIP-seq
MIRT2571434	hsa-miR-4763-5p	CLIP-seq
MIRT2571435	hsa-miR-646	CLIP-seq

Show/Hide all (46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17628813, 19931615, 22328087, 32814053
GO:0005737	Component	Cytoplasm	IDA	15892299
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	ISS
GO:0005768	Component	Endosome	IDA	18165104
GO:0005769	Component	Early endosome	IEA
GO:0005769	Component	Early endosome	ISS
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	15367490, 22328087
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15367490, 15892299, 21419380, 22328087
GO:0005886	Component	Plasma membrane	IEA
GO:0005901	Component	Caveola	IEA
GO:0005901	Component	Caveola	ISS
GO:0005911	Component	Cell-cell junction	IDA	21419380
GO:0005911	Component	Cell-cell junction	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IDA	17628813
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016192	Process	Vesicle-mediated transport	ISS
GO:0016323	Component	Basolateral plasma membrane	IDA	18165104
GO:0016324	Component	Apical plasma membrane	IEA
GO:0030136	Component	Clathrin-coated vesicle	ISS
GO:0031410	Component	Cytoplasmic vesicle	IBA
GO:0031410	Component	Cytoplasmic vesicle	IDA	15892299, 19931615
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032388	Process	Positive regulation of intracellular transport	IDA	19931615
GO:0042802	Function	Identical protein binding	IPI	15367490
GO:0044877	Function	Protein-containing complex binding	IDA	17628813
GO:0045121	Component	Membrane raft	IEA
GO:0045121	Component	Membrane raft	ISS
GO:0047484	Process	Regulation of response to osmotic stress	IBA
GO:0047484	Process	Regulation of response to osmotic stress	IMP	22328087
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	19931615, 22328087
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0055037	Component	Recycling endosome	IEA
GO:0055037	Component	Recycling endosome	ISS
GO:0071397	Process	Cellular response to cholesterol	IEA
GO:0071397	Process	Cellular response to cholesterol	ISS
GO:0072584	Process	Caveolin-mediated endocytosis	IEA
GO:0072584	Process	Caveolin-mediated endocytosis	ISS
GO:0097450	Component	Astrocyte end-foot	IEA

MIM	HGNC	e!Ensembl
605908	17082	ENSG00000100427

Q15049

Protein name

Membrane protein MLC1 (Megalencephalic leukoencephalopathy with subcortical cysts protein 1)

Protein function

Transmembrane protein mainly expressed in brain astrocytes that may play a role in transport across the blood-brain and brain-cerebrospinal fluid barriers (PubMed:22328087). Regulates the response of astrocytes to hypo-osmosis by promoting calci

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Expressed in the brain, with highest levels found in the amygdala, nucleus caudatus, thalamus and hippocampus. {ECO:0000269|PubMed:11326298}.

Sequence

MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLPPCFSHKTWVFSVLMGS
CLLVTSGFSLYLGNVFPAEMDYLRCAAGSCIPSAIVSFTVSRRNANVIPNFQILFVSTFA
VTTTCLIWFGCKLVLNPSAININFNLILLLLLELLMAATVIIAARSSEEDCKKKKGSMSD
SANILDEVPFPARVLKSYSVVEVIAGISAVLGGIIALNVDDSVSGPHLSVTFFWILVACF
PSAIASHVAAECPSKCLVEVLIAISSLTSPLLFTASGYLSFSIMRIVEMFKDYPPAIKPS
YDVLLLLLLLVLLLQAGLNTGTAIQCVRFKVSARLQGASWDTQNGPQERLAGEVARSPLK
EFDKEKAWRAVVVQMAQ

Sequence length

377

Interactions

View interactions

420

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebellar ataxia	Likely pathogenic; Pathogenic	rs80358243	RCV000626926
CNS demyelination	Likely pathogenic; Pathogenic	rs80358243	RCV000626926
Macrocephaly	Likely pathogenic; Pathogenic	rs80358243	RCV000626926
Megalencephalic leukoencephalopathy with subcortical cysts	Likely pathogenic; Pathogenic	rs752428321, rs1289520784, rs1425784992, rs1050220787, rs80358245, rs121908345, rs267607236, rs80358242, rs80358241, rs766231298, rs1057516465, rs1057516766, rs281875309, rs281875317, rs1569242061 View all (4 more)	RCV001831368 RCV003317503 RCV001806844 RCV002307813 RCV003155016 RCV001844006 RCV001826417 RCV001826418 RCV001274276 RCV005419658 RCV004017600 RCV001833490 RCV001826507 RCV004768531 RCV005606707 RCV002298788 RCV001831812 RCV003235028 RCV004689442 RCV001274272
Megalencephalic leukoencephalopathy with subcortical cysts 1	Likely pathogenic; Pathogenic	rs1425964299, rs752428321, rs1289520784, rs1425784992, rs769089143, rs1449444164, rs1050220787, rs2146830385, rs1219458189, rs2146772952, rs2518333804, rs2518295645, rs2518487678, rs2518488096, rs2061993910 View all (74 more)	RCV004570925 RCV003473919 RCV001506968 RCV003475099 RCV001806385 RCV003475101 RCV003475224 RCV002254417 RCV003475321 RCV002279181 RCV002306638 RCV002309793 RCV002309875 RCV002309150 RCV002309430 RCV002307178 RCV003475500 RCV000169359 RCV000169597 RCV000004979 RCV000004981 RCV000004982 RCV000004983 RCV000004984 RCV000004985 RCV000004986 RCV000004987 RCV000184054 RCV003475418 RCV003475451 RCV003147247 RCV000491615 RCV003227569 RCV003229535 RCV003476490 RCV003476491 RCV003476492 RCV003476493 RCV003476494 RCV003476495 RCV003476496 RCV003476497 RCV003476498 RCV003476499 RCV003476500 RCV003476501 RCV003476502 RCV003476503 RCV003476504 RCV003476505 RCV003476506 RCV003988741 RCV004574870 RCV004574871 RCV004574872 RCV000020712 RCV000409034 RCV000410606 RCV000410276 RCV000410268 RCV000412051 RCV000409108 RCV000410132 RCV000411151 RCV000410294 RCV000024319 RCV000674690 RCV000667614 RCV000668812 RCV000674916 RCV000674600 RCV000667245 RCV000667290 RCV000669743 RCV000672410 RCV000665173 RCV004569426 RCV003472364 RCV003474653 RCV000412227 RCV005025112 RCV000411937 RCV002497450 RCV001196731 RCV001258387 RCV001780141 RCV002287898 RCV001263680 RCV001263681 RCV001263682 RCV001263683 RCV001263684 RCV001263685 RCV001263686

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormality of the nervous system	Conflicting classifications of pathogenicity	rs1374593138	RCV001814208
Acute myeloid leukemia	Benign	rs80312581, rs41283489, rs141840641	RCV005897564 RCV005897565 RCV005913896
Familial cancer of breast	Uncertain significance	rs766524233	RCV005924077
Gastric cancer	Benign; Likely benign	rs745656804	RCV005871010
MLC1-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	rs201819346, rs761096481, rs200463656, rs199625892, rs2062011519, rs41302601, rs11568172, rs148532625, rs11568178, rs147572634, rs201522059, rs537457768, rs200163312, rs756589485	RCV003928890 RCV003916585 RCV003930098 RCV003949941 RCV003412245 RCV003924851 RCV003932380 RCV003912442 RCV003945698 RCV003912907 RCV003958148 RCV003960378 RCV003928602 RCV003897994

Show/Hide Text Mining Associations (68)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
AA amyloidosis	Associate	21315556
Adenocarcinoma	Associate	32509861
Alzheimer Disease	Associate	24439168
Amyloidosis	Associate	12515719, 21315556, 31364359
Arthritis Juvenile	Associate	12562401, 2022732
Arthritis Rheumatoid	Associate	12562401, 8218839
Astrocytoma	Associate	32521795, 36078064
Brain Edema	Associate	36078064
Brain Neoplasms	Associate	37722850
Breast Neoplasms	Associate	11259089, 27773611
Carcinoma Non Small Cell Lung	Associate	23571382
Catatonia	Associate	32620087
Cognition Disorders	Associate	27322623, 34982449
Complement component 5 deficiency	Associate	12649134
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	Associate	19617849
Craniocerebral Trauma	Associate	27322623
Cryoglobulinemia Familial Mixed	Associate	20170491
Cysts	Associate	29908077, 32521795, 35468122, 36078064
Depressive Disorder	Associate	32620087
Developmental Disabilities	Associate	27322623
Disease	Associate	24909383
Epilepsies Myoclonic	Associate	34982449
Epilepsy	Associate	34982449
Fever	Associate	27322623
Fibrocartilaginous embolism	Associate	33415745
Generalized Epilepsy With Febrile Seizures Plus Type 1	Associate	34982449
Glioblastoma	Associate	17628813, 37722850
Glut1 Deficiency Syndrome	Associate	23671580, 34539242
HIV Infections	Associate	22312424
Hypomagnesemia 5 Renal with Ocular Involvement	Stimulate	12515719
Immunoglobulin Light chain Amyloidosis	Associate	32151314
Leukemia Lymphocytic Chronic B Cell	Associate	10477712, 1402653, 17380195, 7681468, 8364211
Leukemia Prolymphocytic T Cell	Associate	8222331
Leukodystrophy Metachromatic	Associate	26033718, 35468122, 36078064
Lupus Erythematosus Systemic	Associate	9764614
Lymphoma B Cell	Associate	11159532
Lymphoma B Cell Marginal Zone	Associate	9129040
Lymphoma Non Hodgkin	Associate	20170491
Megalencephalic leukoencephalopathy with subcortical cysts	Associate	11254442, 17628813, 22382567, 22416245, 26392452, 28840990, 29661901, 29908077, 32521795, 32620087, 35468122
Megalencephaly	Associate	36078064
Melanoma	Associate	8692806
Microcephaly with Mental Retardation and Digital Anomalies	Associate	32209057
Monosomy	Associate	35348598
Motor Disorders	Associate	27322623
Multiple Myeloma	Associate	8978295
Multiple Sclerosis	Associate	29908077
Multiple Sclerosis Chronic Progressive	Associate	29908077
Muscular Diseases	Associate	27453230
Myasthenia Gravis	Associate	28087666
Myocardial Infarction	Associate	30683112
Neoplasms	Associate	11259089, 29886758, 35348598, 8978295
Neurologic Manifestations	Associate	29908077
Neuromyelitis Optica	Associate	25626447
Post Acute COVID 19 Syndrome	Associate	38259488
Prion Diseases	Associate	19617849
Prostatic Neoplasms	Associate	20053773, 29188305
Pulmonary Disease Chronic Obstructive	Associate	9493673
Renal Insufficiency	Associate	31257432
Seizures	Associate	27322623, 35468122
Sjogren's Syndrome	Associate	12106503, 25535746
Squamous Cell Carcinoma of Head and Neck	Associate	29043437
Stomach Neoplasms	Associate	27904131
Telomeric 22q13 Monosomy Syndrome	Associate	30875393
Thrombosis	Associate	8222331
Trisomy 22 mosaicism syndrome	Associate	28840990
Unconsciousness	Associate	27322623
Uniparental Disomy	Associate	28840990
Uveal melanoma	Associate	35348598

MLC1 (modulator of VRAC current 1)