MLC1 (modulator of VRAC current 1)

Gene

• Entrez ID: 23209
• Gene name: Modulator of VRAC current 1
• Gene symbol: MLC1
• Synonyms (NCBI Gene): LVM, MLC, VL
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 605908
• HGNC: 17082
• e!Ensembl: ENSG00000100427

Protein

• UniProt ID: 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
• 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cerebellar ataxia	Likely pathogenic; Pathogenic	rs80358243	RCV000626926	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CNS demyelination	Likely pathogenic; Pathogenic	rs80358243	RCV000626926	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrocephaly	Likely pathogenic; Pathogenic	rs80358243	RCV000626926	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Megalencephalic leukoencephalopathy with subcortical cysts	Likely pathogenic; Pathogenic	rs752428321, rs1289520784, rs1425784992, rs1050220787, rs80358245, rs121908345, rs267607236, rs80358242, rs80358241, rs766231298, rs1057516465, rs1057516766, rs281875309, rs281875317, rs1569242061, rs1602049346, rs281875311, rs281875313, rs781004589	RCV001831368 RCV003317503 RCV001806844 RCV002307813 RCV003155016 RCV001844006 RCV001826417 RCV001826418 RCV001274276 RCV005419658 RCV004017600 RCV001833490 RCV001826507 RCV004768531 RCV005606707 RCV002298788 RCV001831812 RCV003235028 RCV004689442 RCV001274272	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Megalencephalic leukoencephalopathy with subcortical cysts 1	Likely pathogenic; Pathogenic	rs1425964299, rs752428321, rs1289520784, rs1425784992, rs769089143, rs1449444164, rs1050220787, rs2146830385, rs1219458189, rs2146772952, rs2518333804, rs2518295645, rs2518487678, rs2518488096, rs2061993910, rs774184754, rs1569248367, rs761620701, rs786204747, rs80358245, rs1183818307, rs121908343, rs121908344, rs121908345, rs267607236, rs80358242, rs80358241, rs794729233, rs762436724, rs2518488079, rs1114167286, rs777790290, rs2518317355, rs2518358218, rs2518317021, rs2518502222, rs2518369951, rs780903222, rs981411860, rs1555963392, rs1216099725, rs2062186534, rs2518313444, rs2518488607, rs2518359086, rs2518334330, rs2518460852, rs2518334179, rs2518334579, rs2518488789, rs1223992285, rs2518434727, rs2518370885, rs2518316990, rs80358243, rs1057516465, rs755271052, rs1057517375, rs769135961, rs1057517090, rs1057516336, rs1057516766, rs1057516286, rs1057517228, rs281875309, rs1555962581, rs281875317, rs1555967668, rs765879182, rs1555968785, rs764754702, rs764669598, rs1555967227, rs1569242061, rs1602063709, rs281875311, rs281875315, rs281875313, rs281875316, rs1436214826, rs757250956, rs2062079566, rs121908341, rs761502278, rs766461175, rs2062076867, rs2062077684, rs2062078281, rs1458824689	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of the nervous system	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM DEMYELINATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR AFFECTIVE DISORDER 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MLC1-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALIVARY GLAND NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA, CATATONIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	33519		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	24439168	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	12515719, 21315556, 31364359	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30816241		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	30469477, 31683977		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29035613		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	12562401, 2022732	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	12562401, 8218839	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	22328087, 26908604, 31209783		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	32521795, 36078064	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29035613		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	15992519		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	15992519, 17210142		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Edema	Brain edema	Pubtator	36078064	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	37722850	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30771534		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	11259089, 27773611	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27941322, 29035613		★☆☆☆☆ Found in Text Mining only
Catatonia	Catatonia	BEFREE	12497630		★☆☆☆☆ Found in Text Mining only
Catatonia	Catatonia	Pubtator	32620087	Associate	★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	BEFREE	27941322		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30988249		★☆☆☆☆ Found in Text Mining only
Chronic schizophrenia	Schizophrenia	BEFREE	17210142		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic schizophrenia	Schizophrenia	PSYGENET_DG	17210142		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	27322623, 34982449	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	29483826		★☆☆☆☆ Found in Text Mining only
Complement component 5 deficiency	Complement component deficiency	Pubtator	12649134	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	Pubtator	19617849	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27941322, 31319598		★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	27322623	Associate	★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	LHGDN	11935341, 16652334		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	20926452		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	32620087	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27322623	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	2951844		★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	34982449	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34982449	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	27590835		★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy With Febrile Seizures Plus Type 1	Generalized epilepsy with febrile seizures plus	Pubtator	34982449	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	17628813, 37722850	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	3905427		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	29846751		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	27941322, 31319598		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	24309928		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	10916115, 16822233, 29035613, 30884768, 30988249		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30949903		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30001637		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	10916115, 25927456, 27590835, 29650237, 29785961, 30001637		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	24309928		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	21907926, 6446429		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	15037685, 26033718, 29908077		★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	26033718, 35468122, 36078064	Associate	★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	12497630, 20517947, 21555057, 27748972, 28398517, 28695146, 29920672		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	16001658		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18648664		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	28079260		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	9764614	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	21419380, 23622383, 25382142, 28695146		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrocephaly	Macrocephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	15992519		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	15992519		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	PSYGENET_DG	15992519		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	15992519		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	15992519		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	29846751		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30771534		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27908453		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	12605034		★☆☆☆☆ Found in Text Mining only
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	Megalencephalic Leukoencephalopathy With Subcortical Cysts	BEFREE	11254442, 11935341, 12477442, 12497630, 12850517, 12973664, 15037685, 16470554, 16652334, 18757878, 18821826, 19931615, 20517947, 21160490, 21419380, 21555057, 21624973, 22328087, 22416245, 22552818, 23079554, 23793458, 23851226, 24202401, 24647135, 24824219, 25044933, 25497041, 28398517, 28840990, 28929580, 29079544, 29661901, 29920672, 30076890, 31209783, 31372844		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	Megalencephalic Leukoencephalopathy With Subcortical Cysts	CLINVAR_DG	11254442, 11935341, 12189496, 12939431, 14572144, 14615938, 15367490, 16470554, 16652334, 18757878, 19168821, 21145992, 21160490, 21555057, 22006981, 22405205, 22416245, 23793458, 23851226, 25497041, 25767710, 26349194, 27081509, 27322623, 28588848		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	Megalencephalic Leukoencephalopathy With Subcortical Cysts	UNIPROT_DG	11254442, 11935341, 12189496, 16652334, 22328087		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	Megalencephalic Leukoencephalopathy With Subcortical Cysts	CTD_human_DG	11254442		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Megalencephalic leukoencephalopathy with subcortical cysts	Megalencephalic Leukoencephalopathy With Subcortical Cysts	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	Megalencephalic Leukoencephalopathy With Subcortical Cysts	GENOMICS_ENGLAND_DG	21624973, 29466841		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melanoma	Melanoma	Pubtator	8692806	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly with Mental Retardation and Digital Anomalies	Microcephaly	Pubtator	32209057	Associate	★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	8978295	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	29908077	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis Chronic Progressive	Multiple sclerosis	Pubtator	29908077	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	28087666	Associate	★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	21907926		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	27941322		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	30683112	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11351266, 16397230, 24309928, 28079260, 31252423		★☆☆☆☆ Found in Text Mining only
Nodular Sclerosis Classical Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	144365		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23571382		★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic Neuritis	BEFREE	129540		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	33519		★☆☆☆☆ Found in Text Mining only
Prion Diseases	Prion disease	Pubtator	19617849	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27908453		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20053773, 29188305	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	9493673	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	CTD_human_DG	16762588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	11857589, 11986987, 12111645, 12477442, 12497630, 14755440, 15992519, 17210142, 26619916		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	12111645, 14755440, 15992519, 17210142		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	12497630		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia, Catatonic	Schizophrenia	BEFREE	11935341, 12111645, 14755440, 15992519		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia, Catatonic	Schizophrenia	PSYGENET_DG	12111645, 14603469, 14755440, 15992519		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	27322623, 35468122	Associate	★☆☆☆☆ Found in Text Mining only
Severe Aplastic Anemia	Anemia	BEFREE	2820089, 3518419		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	12106503, 25535746	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	29908077		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	29043437	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27904131	Associate	★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	30875393	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	8222331	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	GENOMICS_ENGLAND_DG	29466841		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	31302377		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	140831		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	35348598	Associate	★☆☆☆☆ Found in Text Mining only