MCOLN1 (mucolipin TRP cation channel 1)

Gene

• Entrez ID: 57192
• Gene name: Mucolipin TRP cation channel 1
• Gene symbol: MCOLN1
• Synonyms (NCBI Gene): LECD, MG-2, ML1, ML4, MLIV, MST080, MSTP080, TRP-ML1, TRPM-L1, TRPML1
• Chromosome: 19
• Chromosome location: 19p13.2
• Summary: This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs73003348	C>T	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs121908371	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs121908372	G>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121908374	C>T	Pathogenic	Coding sequence variant, missense variant
rs200484869	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201232288	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs376777270	C>G,T	Likely-benign, likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs566285864	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs754097561	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs755042147	T>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs767122713	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs767950930	G>A	Pathogenic-likely-pathogenic	Splice donor variant
rs779141908	CTGCTGCAGAACGTGAGGCTTC>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs797044817	TTC>-	Pathogenic	Coding sequence variant, inframe deletion
rs797044818	A>G	Pathogenic	Missense variant, coding sequence variant
rs797044822	->T	Pathogenic	Frameshift variant, coding sequence variant
rs797044823	->GGCCGCAGCAG	Pathogenic	Frameshift variant, coding sequence variant
rs797044827	T>C	Pathogenic	Missense variant, coding sequence variant
rs797044828	C>G	Pathogenic	Missense variant, coding sequence variant
rs797044829	G>A	Pathogenic	Missense variant, coding sequence variant
rs886041533	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1057516458	G>A,C	Likely-pathogenic	Splice acceptor variant
rs1057516531	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1057516904	->A	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517040	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517335	A>G	Likely-pathogenic	Splice acceptor variant
rs1057517453	A>G	Likely-pathogenic	Splice acceptor variant
rs1057518781	G>A,C	Likely-pathogenic	Splice donor variant
rs1555742120	ACGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555742162	T>C	Likely-pathogenic	Splice donor variant
rs1599254152	G>A	Pathogenic	Splice donor variant
rs1599255682	C>G	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2568446	hsa-miR-1283	CLIP-seq
MIRT2568447	hsa-miR-3178	CLIP-seq
MIRT2568448	hsa-miR-3180	CLIP-seq
MIRT2568449	hsa-miR-3180-3p	CLIP-seq
MIRT2568450	hsa-miR-3196	CLIP-seq
MIRT2568451	hsa-miR-4270	CLIP-seq
MIRT2568452	hsa-miR-4290	CLIP-seq
MIRT2568453	hsa-miR-4441	CLIP-seq
MIRT2568454	hsa-miR-4488	CLIP-seq
MIRT2568455	hsa-miR-4537	CLIP-seq
MIRT2568456	hsa-miR-4634	CLIP-seq
MIRT2568457	hsa-miR-4645-5p	CLIP-seq
MIRT2568458	hsa-miR-4667-3p	CLIP-seq
MIRT2568459	hsa-miR-4673	CLIP-seq
MIRT2568460	hsa-miR-4697-5p	CLIP-seq
MIRT2568461	hsa-miR-4750	CLIP-seq
MIRT2568462	hsa-miR-4781-5p	CLIP-seq
MIRT2568463	hsa-miR-4787-5p	CLIP-seq
MIRT2568446	hsa-miR-1283	CLIP-seq
MIRT2568447	hsa-miR-3178	CLIP-seq
MIRT2568451	hsa-miR-4270	CLIP-seq
MIRT2568452	hsa-miR-4290	CLIP-seq
MIRT2568453	hsa-miR-4441	CLIP-seq
MIRT2568455	hsa-miR-4537	CLIP-seq
MIRT2568456	hsa-miR-4634	CLIP-seq
MIRT2568457	hsa-miR-4645-5p	CLIP-seq
MIRT2568458	hsa-miR-4667-3p	CLIP-seq
MIRT2568459	hsa-miR-4673	CLIP-seq
MIRT2568461	hsa-miR-4750	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001891	Component	Phagocytic cup	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0005253	Function	Monoatomic anion channel activity	IEA
GO:0005253	Function	Monoatomic anion channel activity	ISS
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005261	Function	Monoatomic cation channel activity	NAS	11030752
GO:0005262	Function	Calcium channel activity	IDA	25720963, 29019983
GO:0005262	Function	Calcium channel activity	IEA
GO:0005262	Function	Calcium channel activity	TAS
GO:0005267	Function	Potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	ISS
GO:0005272	Function	Sodium channel activity	IEA
GO:0005272	Function	Sodium channel activity	ISS
GO:0005381	Function	Iron ion transmembrane transporter activity	IDA	18794901
GO:0005381	Function	Iron ion transmembrane transporter activity	IEA
GO:0005381	Function	Iron ion transmembrane transporter activity	TAS
GO:0005515	Function	Protein binding	IPI	21224396, 25130899, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005764	Component	Lysosome	IDA	21224396
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005765	Component	Lysosomal membrane	IDA	25720963
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IDA	21224396
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	11013137
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	NAS	11030752
GO:0006816	Process	Calcium ion transport	IEA
GO:0007040	Process	Lysosome organization	IDA	32753672, 35662396
GO:0008289	Function	Lipid binding	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0016020	Component	Membrane	IDA	29019983
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11030752
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0033572	Process	Transferrin transport	TAS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034755	Process	Iron ion transmembrane transport	IEA
GO:0034755	Process	Iron ion transmembrane transport	IMP	18794901
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0042802	Function	Identical protein binding	IPI	29019983, 30305615
GO:0042995	Component	Cell projection	IEA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0045824	Process	Negative regulation of innate immune response	IDA	35662396
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IEA
GO:0051289	Process	Protein homotetramerization	IDA	29019983
GO:0051289	Process	Protein homotetramerization	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IDA	29019983
GO:0070588	Process	Calcium ion transmembrane transport	TAS
GO:0071277	Process	Cellular response to calcium ion	IEA
GO:0071277	Process	Cellular response to calcium ion	ISS
GO:0071467	Process	Cellular response to pH	IEA
GO:0071467	Process	Cellular response to pH	ISS
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0072345	Function	NAADP-sensitive calcium-release channel activity	IBA
GO:0072345	Function	NAADP-sensitive calcium-release channel activity	IEA
GO:0090382	Process	Phagosome maturation	IDA	27623384
GO:0090382	Process	Phagosome maturation	IEA
GO:0097352	Process	Autophagosome maturation	IEA
GO:0097682	Function	Intracellularly phosphatidylinositol-3,5-bisphosphate-gated monatomic cation channel activity	IEA
GO:0097682	Function	Intracellularly phosphatidylinositol-3,5-bisphosphate-gated monatomic cation channel activity	ISS
GO:0098655	Process	Monoatomic cation transmembrane transport	IEA
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:0099604	Function	Ligand-gated calcium channel activity	IDA	25720963, 29019983
GO:0140367	Process	Antibacterial innate immune response	IDA	32753672, 35662396
GO:1900181	Process	Negative regulation of protein localization to nucleus	IDA	35662396
GO:1900182	Process	Positive regulation of protein localization to nucleus	IDA	25720963, 32753672
GO:1901660	Process	Calcium ion export	IDA	25720963
GO:1905673	Process	Positive regulation of lysosome organization	IDA	32753672
GO:1905673	Process	Positive regulation of lysosome organization	IDA	25720963

Other IDs

• MIM: 605248
• HGNC: 13356
• e!Ensembl: ENSG00000090674

Protein

• UniProt ID: Q9GZU1
• Protein name: Mucolipin-1 (ML1) (MG-2) (Mucolipidin) (Transient receptor potential channel mucolipin 1) (TRPML1)
• Protein function: Nonselective cation channel probably playing a role in the regulation of membrane trafficking events and of metal homeostasis (PubMed:11013137, PubMed:12459486, PubMed:14749347, PubMed:15336987, PubMed:18794901, PubMed:25720963, PubMed:27623384,
• PDB: 5TJA, 5TJB, 5TJC, 5WJ5, 5WJ9, 6E7P, 6E7Y, 6E7Z, 7MGL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08016	PKD_channel	378 → 524	Polycystin cation channel	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed in adult and fetal tissues. {ECO:0000269|PubMed:10973263, ECO:0000269|PubMed:11013137, ECO:0000269|PubMed:11030752}.
• Sequence:

  MTAPAGPRGSETERLLTPNPGYGTQAGPSPAPPTPPEEEDLRRRLKYFFMSPCDKFRAKG
  RKPCKLMLQVVKILVVTVQLILFGLSNQLAVTFREENTIAFRHLFLLGYSDGADDTFAAY
  TREQLYQAIFHAVDQYLALPDVSLGRYAYVRGGGDPWTNGSGLALCQRYYHRGHVDPAND
  TFDIDPMVVTDCIQVDPPERPPPPPSDDLTLLESSSSYKNLTLKFHKLVNVTIHFRLKTI
  NLQSLINNEIPDCYTFSVLITFDNKAHSGRIPISLETQAHIQECKHPSVFQHGDNSFRLL
  FDVVVILTCSLSFLLCARSLLRGFLLQNEFVGFMWRQRGRVISLWERLEFVNGWYILLVT
  SDVLTISGTIMKIGIEAKNLASYDVCSILLGTSTLLVWVGVIRYLTFFHNYNILIATLRV
  ALPSVMRFCCCVAVIYLGYCFCGWIVLGPYHVKFRSLSMVSECLFSLINGDDMFVTFAAM
  QAQQGRSSLVWLFSQLYLYSFISLFIYMVLSLFIALITGAYDTIKHPGGAGAEESELQAY
  IAQCQDSPTSGKFRRGSGSACSLLCCCGRDPSEEHSLLVN

• Sequence length: 580

Pathways

KEGG:

Calcium signaling pathway
Lysosome

Reactome:

TRP channels
Transferrin endocytosis and recycling

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
Abnormality of the nervous system	Likely pathogenic	rs2146024743	RCV001814447	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Pathogenic	rs104886461	RCV005887308	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lisch epithelial corneal dystrophy	Likely pathogenic; Pathogenic	rs765577483, rs1056159821, rs1368027694, rs104886461, rs121908372, rs797044824, rs767122713, rs755042147, rs797044822, rs797044823, rs2512472276, rs2022588840, rs767950930, rs1555741822	RCV005023146 RCV005014542 RCV005016942 RCV005003336 RCV005016242 RCV003985298 RCV005016546 RCV005003546 RCV005025308 RCV005016547 RCV005027972 RCV003985715 RCV005027463 RCV005027804	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MCOLN1-related disorder	Likely pathogenic; Pathogenic	rs2512468099, rs121908372, rs797044818, rs148748724	RCV003903669 RCV003894792 RCV004757154 RCV004757235	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucolipidosis	Pathogenic	rs104886461	RCV000825567	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucolipidosis type IV	Pathogenic; Likely pathogenic	rs148748724, rs2146023425, rs2146025414, rs776845391, rs765577483, rs1056159821, rs1349755445, rs2146023956, rs2146022423, rs2146022784, rs2146024554, rs2146021332, rs2146022577, rs757685298, rs2146022877, rs2146021402, rs2146025416, rs2022547761, rs2146024231, rs1368027694, rs2146021205, rs2146022798, rs2146021137, rs896210352, rs2512468209, rs2512468099, rs2512470634, rs2512472704, rs2512470541, rs2512468178, rs2512471532, rs2512466186, rs2512469807, rs2512469840, rs1294526096, rs2512471493, rs104886461, rs121908371, rs121908372, rs121908373, rs121908374, rs797044824, rs767122713, rs755042147, rs797044822, rs797044817, rs797044818, rs797044823, rs1555742780, rs2512472276, rs2512474534, rs2512474273, rs2512472667, rs1324976737, rs2512469342, rs2512474348, rs1267681596, rs886041533, rs2512469706, rs2512472317, rs2512472676, rs2512469818, rs2512473619, rs2512477841, rs2512474342, rs2512470983, rs1246174371, rs1568397939, rs2022588840, rs746077436, rs1057516246, rs1057516602, rs1057517453, rs1057517040, rs767950930, rs1057516904, rs1057517335, rs1057516458, rs1057516531, rs1057518781, rs768736321, rs1555742162, rs1555741545, rs1555741822, rs1555741548, rs779141908, rs1568398702, rs1599254152, rs376777270, rs1599255682, rs2022550603, rs2022607233, rs2022549661, rs2022601213	RCV001378286 RCV001379502 RCV001378954 RCV001384670 RCV001385399 RCV001388005 RCV001380641 RCV001385590 RCV001783636 RCV001959318 RCV001875299 RCV001928601 RCV001993694 RCV002037683 RCV001994819 RCV002035280 RCV002022065 RCV002007621 RCV001962958 RCV001939516 RCV001939774 RCV001880821 RCV001995040 RCV001963290 RCV002306598 RCV002309586 RCV002307980 RCV002309031 RCV002306886 RCV002306970 RCV002307026 RCV002307065 RCV002310128 RCV002308389 RCV002624890 RCV002654679 RCV000005438 RCV000005440 RCV000005442 RCV000005443 RCV000005444 RCV000195067 RCV000192300 RCV000194725 RCV000192307 RCV000192301 RCV000192302 RCV000193040 RCV000192304 RCV002791902 RCV002825468 RCV002913936 RCV002947310 RCV003037718 RCV003029265 RCV003017136 RCV003147189 RCV001855065 RCV003484212 RCV003505845 RCV003506146 RCV003505955 RCV003506283 RCV003504730 RCV003613618 RCV003613797 RCV003614562 RCV003615464 RCV005015109 RCV004576148 RCV000410923 RCV000410945 RCV000409750 RCV000410830 RCV000411895 RCV000411871 RCV000412239 RCV000409544 RCV000412404 RCV000412421 RCV003766164 RCV001273277 RCV000673766 RCV000671408 RCV000671073 RCV000669577 RCV000664931 RCV000671858 RCV000818854 RCV001004612 RCV001004613 RCV001004614 RCV001037343 RCV001066766 RCV001223600 RCV001246653	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs104886461	RCV005887309	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs104886461	RCV005887310	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATROPHY/DEGENERATION AFFECTING THE BRAINSTEM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY, LISCH EPITHELIAL	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia 5A	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOLIPIDOSES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOLIPIDOSIS IV	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	31578829	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36825945	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	31341250		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31481985		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	33094427	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	28839241	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy/Degeneration affecting the brainstem	Brainstem Atrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blindness	Blindness	Pubtator	28112729	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35274126	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	30662583		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	38188686	Associate	★☆☆☆☆ Found in Text Mining only
Congenital genu recurvatum	Congenital genu recurvatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy Lisch Epithelial	Corneal dystrophy	Pubtator	37972748	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	31341250		★☆☆☆☆ Found in Text Mining only
Dysgenesis of corpus callosum	Dysplastic corpus callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11317355, 11461186, 11845410, 11874766, 12182165, 24332805, 25668017, 27357649, 9448310, 9680151, 9710036		★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	18326692	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31013784		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35887088	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31013784		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34878954	Inhibit	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	21224396, 28112729	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	31827137	Associate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	28364616		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10470116		★☆☆☆☆ Found in Text Mining only
Leukomalacia, Periventricular	Periventricular Leukomalacia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	25933391	Associate	★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	29453205		★☆☆☆☆ Found in Text Mining only
Lipomucopolysaccharidosis	Lipomucopolysaccharidosis	CTD_human_DG	20864526, 21613607		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30787043		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31461647		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	34878954	Inhibit	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucolipidoses	Mucolipidosis	CLINVAR_DG	10973263, 11845410, 16645217, 19815695, 23555759		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucolipidoses	Mucolipidosis	LHGDN	11845410, 12125810, 15336987		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucolipidoses	Mucolipidosis	Pubtator	11845410, 16361256, 16497227, 16645217, 17056595, 17662026, 18258208, 18326692, 18504305, 19638346, 19864416, 20159435, 20736310, 21224396, 21613607, 22262857, 22268962, 22281206, 23535491, 24332805, 25119295, 25445271, 27248469, 28112729, 31578829, 33965501, 35131932, 37972748	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucolipidoses	Mucolipidosis	CTD_human_DG	20864526, 21613607		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucolipidoses	Mucolipidosis	BEFREE	21118102, 26009188		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucolipidosis Type IV	Mucolipidosis	BEFREE	10973263, 11013137, 11030752, 11317355, 11318610, 11326278, 11551108, 11845410, 12125810, 12182165, 12459486, 14749347, 15523648, 16133264, 16287144, 16645217, 16978393, 17988215, 18635948, 18794901, 19006653, 19041749, 19117012, 19158345, 19247216, 19557826, 19864416, 20540742, 20864526, 21224396, 21621258, 22262857, 22281206, 23535491, 23585356, 24192042, 25119295, 25130899, 25156245, 25216637, 26195823, 26336837, 28112729, 28449103, 28486130, 28610891, 28689729, 28936784, 29770442, 31317194, 31578829, 31822666		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mucolipidosis Type IV	Mucolipidosis	UNIPROT_DG	10973263, 11013137, 11030752, 11317355, 12182165, 14749347, 15178326, 15523648, 16978393, 18794901, 21256127, 28112729		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mucolipidosis Type IV	Mucolipidosis	CLINVAR_DG	10973263, 11013137, 11030752, 11317355, 11845410, 12182165, 14749347, 16287144, 16645217, 17239335, 17384215, 18326692, 18794901, 19815695, 21763169, 22268962, 25119295, 25525159		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mucolipidosis Type IV	Mucolipidosis	GENOMICS_ENGLAND_DG	11030752, 24357685, 26597493, 27604308, 29449188		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mucolipidosis Type IV	Mucolipidosis	CTD_human_DG	20864526, 21613607		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mucolipidosis Type IV	Mucolipidosis	ORPHANET_DG	21224396, 21763169		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mucolipidosis type IV	Mucolipidosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular Dystrophy	Muscular dystrophy	BEFREE	25216637		★☆☆☆☆ Found in Text Mining only
Myopathies, Nemaline	Myopathy	BEFREE	22281206		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31576167		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	12125810		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	11845410, 19638346, 20736310, 27248469, 28112729, 36825945	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	19041749, 25216637, 27248469		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31576167		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	BEFREE	27398910		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	27589205		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31481985		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	23535491		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34250953	Associate	★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	31341250		★☆☆☆☆ Found in Text Mining only
Pseudo-Hurler Polydystrophy	Pseudo-Hurler Polydystrophy	CTD_human_DG	20864526, 21613607		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sialidosis, type 2	Sialidosis	BEFREE	7282783		★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30889511		★☆☆☆☆ Found in Text Mining only
Type I Mucolipidosis	Mucolipidosis	CTD_human_DG	20864526, 21613607		★☆☆☆☆ Found in Text Mining only
Type II Mucolipidosis	Mucolipidosis	CTD_human_DG	20864526, 21613607		★☆☆☆☆ Found in Text Mining only
Yunis Varon syndrome	Yunis Varon Syndrome	BEFREE	28635952		★☆☆☆☆ Found in Text Mining only