MCOLN1 (mucolipin TRP cation channel 1)

Gene: MCOLN1 (mucolipin TRP cation channel 1) Pan paniscus

Analyze

Symbol:

MCOLN1

Name:

mucolipin TRP cation channel 1

RGD ID:

11673368

Description:

ENCODES a protein that exhibits calcium channel activity (ortholog); iron ion transmembrane transporter activity (ortholog); NAADP-sensitive calcium-release channel activity (ortholog); INVOLVED IN autophagosome maturation (ortholog); iron ion transmembrane transport (ortholog); release of sequestered calcium ion into cytosol (ortholog); PARTICIPATES IN calcium transport pathway; calcium/calcium-mediated signaling pathway; ASSOCIATED WITH Boucher-Neuhauser syndrome (ortholog); Corneal Opacity (ortholog); familial hemophagocytic lymphohistiocytosis 5 (ortholog); FOUND IN intracellular vesicle (ortholog); lysosomal membrane (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

mucolipin 1; mucolipin-1

RGD Orthologs

Alliance Genes

More Info

more info ...

Latest Assembly:

Mhudiblu_PPA_v0 - Bonobo Mhudiblu_PPA_v0 Assembly

Position:

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	20	12,193,834 - 12,205,855 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	11,312,270 - 11,323,883 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	6,813,498 - 6,825,153 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	7,671,704 - 7,683,093 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	7,671,704 - 7,683,093 (+)	Ensembl	panpan1.1		panPan2

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Boucher-Neuhauser syndrome (ISO)

Corneal Opacity (ISO)

familial hemophagocytic lymphohistiocytosis 5 (ISO)

genetic disease (ISO)

glycoproteinosis (ISO)

Growth Disorders (ISO)

hereditary spastic paraplegia (ISO)

hereditary spastic paraplegia 39 (ISO)

hereditary spastic paraplegia 5A (ISO)

intellectual disability (ISO)

Lisch epithelial corneal dystrophy (ISO)

mucolipidosis (ISO)

mucolipidosis type IV (ISO)

Nervous System Malformations (ISO)

periventricular leukomalacia (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

autophagosome maturation (IEA,ISO)

calcium ion export (IEA)

calcium ion transmembrane transport (IEA)

calcium-mediated signaling (IEA)

cellular response to calcium ion (IEA)

cellular response to pH (IEA)

iron ion transmembrane transport (ISO)

monoatomic cation transmembrane transport (IEA)

monoatomic ion transmembrane transport (IEA)

phagosome maturation (IEA)

positive regulation of lysosome organization (IEA)

protein homotetramerization (IEA)

release of sequestered calcium ion into cytosol (ISO)

Cellular Component

endosome (IEA)

Golgi apparatus (IEA)

intracellular membrane-bounded organelle (IEA)

intracellular vesicle (ISO)

late endosome (IEA)

late endosome membrane (IEA)

lysosomal membrane (IEA,ISO)

lysosome (IEA)

membrane (IEA)

nucleoplasm (IEA)

plasma membrane (IEA)

receptor complex (IEA)

Molecular Function

calcium channel activity (ISO)

identical protein binding (IEA)

intracellularly phosphatidylinositol-3,5-bisphosphate-gated monatomic cation channel activity (IEA)

iron ion transmembrane transporter activity (ISO)

ligand-gated calcium channel activity (IEA)

monoatomic cation channel activity (IEA)

NAADP-sensitive calcium-release channel activity (IEA,ISO)

protein binding (ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

calcium transport pathway (ISO)

calcium/calcium-mediated signaling pathway (ISO)

References

Additional References at PubMed

PMID:30032202

Genomics

Comparative Map Data

MCOLN1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	20	12,193,834 - 12,205,855 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	11,312,270 - 11,323,883 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	6,813,498 - 6,825,153 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	7,671,704 - 7,683,093 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	7,671,704 - 7,683,093 (+)	Ensembl	panpan1.1		panPan2

MCOLN1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	7,522,624 - 7,534,009 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	7,522,624 - 7,534,009 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	7,587,510 - 7,598,895 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	7,493,512 - 7,504,864 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	7,493,511 - 7,504,864	NCBI
Celera	19	7,460,019 - 7,471,418 (+)	NCBI		Celera
Cytogenetic Map	19	p13.2	NCBI
HuRef	19	7,258,672 - 7,270,051 (+)	NCBI		HuRef
CHM1_1	19	7,587,414 - 7,598,813 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	7,523,360 - 7,534,743 (+)	NCBI		T2T-CHM13v2.0

Mcoln1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	3,550,458 - 3,565,232 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	3,550,457 - 3,565,232 (+)	Ensembl		GRCm39 Ensembl
GRCm38	8	3,500,519 - 3,515,232 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	3,500,457 - 3,515,232 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	3,500,519 - 3,515,232 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	3,500,519 - 3,515,232 (+)	NCBI		MGSCv36	mm8
Celera	8	3,726,493 - 3,741,206 (+)	NCBI		Celera
Cytogenetic Map	8	A1.1	NCBI
cM Map	8	1.92	NCBI

Mcoln1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	12	6,357,851 - 6,372,151 (+)	NCBI		GRCr8
mRatBN7.2	12	1,560,341 - 1,574,252 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	12	1,560,359 - 1,574,252 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	12	2,224,512 - 2,238,389 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	12	2,848,082 - 2,861,959 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	12	1,620,097 - 1,633,967 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	12	2,054,629 - 2,068,682 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	12	2,054,680 - 2,068,682 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	12	4,216,866 - 4,230,870 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	12	2,640,030 - 2,653,923 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	12	2,640,054 - 2,653,874 (-)	NCBI
Celera	12	3,416,808 - 3,430,691 (+)	NCBI		Celera
Cytogenetic Map	12	p12	NCBI

Mcoln1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955563	1,703,416 - 1,745,996 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955563	1,703,408 - 1,712,908 (-)	NCBI	ChiLan1.0	ChiLan1.0

MCOLN1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	20	52,318,411 - 52,327,389 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	20	52,318,408 - 52,348,963 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	52,122,621 - 52,131,450 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	20	52,847,692 - 52,856,522 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	20	52,847,619 - 52,856,453 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	20	52,051,554 - 52,060,343 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	20	52,495,158 - 52,503,986 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	20	52,726,054 - 52,734,883 (+)	NCBI		UU_Cfam_GSD_1.0

Mcoln1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405118	213,225,990 - 213,234,438 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936588	4,600,344 - 4,608,787 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936588	4,600,344 - 4,608,793 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MCOLN1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	71,602,770 - 71,613,312 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	71,602,888 - 71,613,331 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	72,056,664 - 72,151,756 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MCOLN1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	6	7,019,132 - 7,030,675 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	7,019,277 - 7,030,474 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666081	837,403 - 849,809 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Mcoln1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624828	634,214 - 643,633 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624828	634,318 - 643,406 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_003810017	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JARIFH020000020	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSPPAT00000047666 ⟹ ENSPPAP00000024840

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
PanPan1.1 Ensembl	19	7,671,704 - 7,683,093 (+)	Ensembl

RefSeq Acc Id:

XM_003810017 ⟹ XP_003810065

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
NHGRI_mPanPan1-v2	20	12,193,834 - 12,205,855 (+)	NCBI
NHGRI_mPanPan1	19	11,312,270 - 11,323,883 (+)	NCBI
Mhudiblu_PPA_v0	19	6,813,498 - 6,825,153 (+)	NCBI
PanPan1.1	19	7,671,704 - 7,683,093 (+)	NCBI

Sequence:

show sequence

CACGTGACCGAGGCACAGATCAGCTGATGCCGGAGGGTTTGAAGCCGCGCCGCGAGGGAGCGAG
GTCGCAGTGACAGCGGCGGGCGATCGGACCCAGGCTGCCCCGCCGTACCCACCTGCGTCCCGCG
CTCCCGCCCCAGCATGACAGCCCCGGCGGGTCCGCGCGGCTCAGAGACCGAGCGGCTTCTGACC
CCCAACCCCGGGTATGGGACCCAGGCGGGGCCTTCGCCGGCCCCTCCGACACCCCCAGAAGAGG
AAGACCTTCGCCGTCGTCTCAAATACTTTTTCATGAGTCCCTGCGACAAGTTTCGAGCCAAGGG
CCGCAAGCCCTGCAAGCTGATGCTTCAAGTGGTCAAGATCCTGGTGGTCACGGTGCAGCTCATC
CTGTTTGGGCTCAGTAATCAGCTGGCTGTGACATTCCGGGAAGAGAACACCATCGCCTTCCGAC
ACCTCTTCCTGCTGGGCTACTCGGACGGAGCGGATGACACCTTCGCAGCCTACACGCGGGAGCA
GCTGTACCAGGCCATCTTCCATGCTGTGGATCAGTACCTGGCGTTGCCTGACGTGTCACTGGGC
CGGTATGCGTATGTCCGTGGTGGGGGTGACCCTTGGACCAATGGCTCAGGGCTTGCTCTCTGCC
AGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGACACATTTGACATTGATCCGATGGT
GGTTACTGACTGCATCCAGGTGGATCCCCCCGAGCGGCCCCCTCCGCCCCCCAGCGACGATCTC
ACCCTCTTGGAAAGCAGCTCCAGTTACAAGAACCTCACGCTCAAATTCCACAAGCTGGTCAATG
TCACCATCCACTTCCGGCTGAAGACCATTAACCTCCAGAGCCTCATCAATAATGAGATCCCGGA
CTGCTATACCTTCAGCGTCCTGATCACGTTTGACAACAAAGCACACAGTGGGCGGATCCCCATC
AGCCTGGAGACCCAGGCCCACATCCAGGAGTGTAAGCACCCCAGTGTCTTCCAGCACGGAGACA
ACAGCTTCCGGCTCCTGTTTGATGTGGTGGTCATCCTCACCTGCTCCCTGTCCTTCCTCCTCTG
CGCCCGCTCACTCCTTCGAGGCTTCCTGCTGCAGAACGAGTTTGTGGGGTTCATGTGGCGGCAG
CGGGGACGGGTCATCAGCCTGTGGGAGCGGCTGGAATTTGTCAATGGCTGGTACATCCTGCTCG
TCACCAGCGATGTGCTCACCATCTCGGGCACCATCATGAAGATCGGCATCGAGGCCAAGAACTT
GGCGAGCTACGACGTCTGCAGCATCCTCCTGGGCACCTCGACGCTGCTGGTGTGGGTGGGCGTG
ATCCGCTACCTGACCTTCTTCCACAACTACAATATCCTCATCGCCACACTGCGGGTGGCCCTGC
CCAGCGTCATGCGCTTCTGCTGCTGTGTGGCTGTCATCTACCTGGGCTACTGCTTCTGTGGCTG
GATCGTGCTGGGGCCCTATCATGTGAAGTTCCGCTCGCTCTCCATGGTGTCTGAGTGCCTGTTC
TCGCTCATCAACGGGGACGACATGTTCGTGACGTTCGCCGCCATGCAGGCGCAGCAGGGCCGCA
GCAGCCTGGTGTGGCTCTTCTCCCAGCTCTACCTGTACTCCTTCATCAGCCTCTTCATCTACAT
GGTGCTCAGCCTCTTCATCGCGCTCATCACCGGCGCCTACGACACCATCAAGCATCCCGGCGGC
GCAGGCGCAGAGGAGAGCGAGCTGCAGGCCTACATCGCACAGTGCCAGGACAGCCCCACCTCCG
GCAAGTTCCGCCGCGGGAGCGGCTCGGCCTGCAGCCTTCTCTGCTGTTGCGGAAGGGACCCCTC
GGAGGAGCATTCGCTGCTGGTGAATTGATTCGACCTGACTGCCGTTGGACCGTAGGCCCTGGAC
TGCAGAGACCCCCGCCCCCGACCCCGCTTATTTATTTTTAGGGTTTGCTTTTAAGGATCGGCTC
CCTGTCGCGCCCGAGGAGGGCCTGGACCTTTCGTGTCGGACCCTTGGGGGCGGGGAGACTGGGT
GGGGAGGGTGTTGAATAAAAGGGAAAATAAATGTGTCGTTTTCATTTTTA

hide sequence

Protein Sequences


Protein RefSeqs	XP_003810065	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSPPAP00000024840
	ENSPPAP00000024840.1

RefSeq Acc Id:

XP_003810065 ⟸ XM_003810017

- UniProtKB:

A0A2R9B983 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MTAPAGPRGSETERLLTPNPGYGTQAGPSPAPPTPPEEEDLRRRLKYFFMSPCDKFRAKGRKPC
KLMLQVVKILVVTVQLILFGLSNQLAVTFREENTIAFRHLFLLGYSDGADDTFAAYTREQLYQA
IFHAVDQYLALPDVSLGRYAYVRGGGDPWTNGSGLALCQRYYHRGHVDPANDTFDIDPMVVTDC
IQVDPPERPPPPPSDDLTLLESSSSYKNLTLKFHKLVNVTIHFRLKTINLQSLINNEIPDCYTF
SVLITFDNKAHSGRIPISLETQAHIQECKHPSVFQHGDNSFRLLFDVVVILTCSLSFLLCARSL
LRGFLLQNEFVGFMWRQRGRVISLWERLEFVNGWYILLVTSDVLTISGTIMKIGIEAKNLASYD
VCSILLGTSTLLVWVGVIRYLTFFHNYNILIATLRVALPSVMRFCCCVAVIYLGYCFCGWIVLG
PYHVKFRSLSMVSECLFSLINGDDMFVTFAAMQAQQGRSSLVWLFSQLYLYSFISLFIYMVLSL
FIALITGAYDTIKHPGGAGAEESELQAYIAQCQDSPTSGKFRRGSGSACSLLCCCGRDPSEEHS
LLVN

hide sequence

RefSeq Acc Id:

ENSPPAP00000024840 ⟸ ENSPPAT00000047666

Protein Domains

Mucolipin extracytosolic Polycystin cation channel PKD1/PKD2

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSPPAG00000035546	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSPPAT00000047666.1	UniProtKB/TrEMBL
Gene3D-CATH	1.10.287.70	UniProtKB/TrEMBL
InterPro	MCLN_ECD	UniProtKB/TrEMBL
	ML1_ELD	UniProtKB/TrEMBL
	Mucolipin	UniProtKB/TrEMBL
	PKD1_2_channel	UniProtKB/TrEMBL
KEGG Report	pps:100985054	UniProtKB/TrEMBL
NCBI Gene	MCOLN1	ENTREZGENE
PANTHER	MUCOLIPIN-1	UniProtKB/TrEMBL
	PTHR12127	UniProtKB/TrEMBL
Pfam	MCLN_ECD	UniProtKB/TrEMBL
	PKD_channel	UniProtKB/TrEMBL
UniProt	A0A2R9B983	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2020-11-03	MCOLN1	mucolipin TRP cation channel 1	MCOLN1	mucolipin 1	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - OMIM

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

RGD Manual Annotations