SLC27A5 (solute carrier family 27 member 5)

Gene: SLC27A5 (solute carrier family 27 member 5) Pan paniscus

Analyze

Symbol:

SLC27A5

Name:

solute carrier family 27 member 5

RGD ID:

11998257

Description:

ENCODES a protein that exhibits cholate-CoA ligase activity (ortholog); protein-containing complex binding (ortholog); INVOLVED IN bile acid metabolic process (ortholog); establishment of localization in cell (ortholog); fatty acid transport (ortholog); PARTICIPATES IN bile acid biosynthetic pathway; cerebrotendinous xanthomatosis pathway; congenital bile acid synthesis defect pathway; ASSOCIATED WITH genetic disease (ortholog); myoepithelioma (ortholog); FOUND IN protein-containing complex (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

bile acyl-CoA synthetase; long-chain fatty acid transport protein 5

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	64,768,032 - 64,788,131 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	66,555,906 - 66,576,003 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	55,507,455 - 55,520,448 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	64,329,567 - 64,342,630 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	64,329,567 - 64,342,630 (-)	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

genetic disease (ISO)

myoepithelioma (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

bile acid biosynthetic process (IEA)

bile acid metabolic process (IEA,ISO)

establishment of localization in cell (IEA,ISO)

fatty acid transport (IEA,ISO)

ketone body biosynthetic process (IEA,ISO)

lipid metabolic process (IEA)

long-chain fatty acid import across plasma membrane (IEA,ISO)

long-chain fatty acid metabolic process (IEA)

triglyceride mobilization (IEA,ISO)

very long-chain fatty acid metabolic process (IEA)

Cellular Component

basal plasma membrane (IEA)

endoplasmic reticulum (IEA)

endoplasmic reticulum membrane (IEA)

protein-containing complex (ISO)

Molecular Function

cholate-CoA ligase activity (IEA,ISO)

fatty acid transmembrane transporter activity (IEA)

ligase activity (IEA)

long-chain fatty acid transmembrane transporter activity (IEA)

long-chain fatty acid-CoA ligase activity (IEA)

protein binding (ISO)

protein-containing complex binding (ISO)

very long-chain fatty acid-CoA ligase activity (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

bile acid biosynthetic pathway (ISO)

cerebrotendinous xanthomatosis pathway (ISO)

congenital bile acid synthesis defect pathway (ISO)

familial hypercholanemia pathway (ISO)

Zellweger syndrome pathway (ISO)

References

Additional References at PubMed

PMID:30032202

Genomics

Comparative Map Data

SLC27A5
(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	64,768,032 - 64,788,131 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	66,555,906 - 66,576,003 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	55,507,455 - 55,520,448 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	64,329,567 - 64,342,630 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	64,329,567 - 64,342,630 (-)	Ensembl	panpan1.1		panPan2

SLC27A5
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	58,498,333 - 58,511,992 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	58,479,512 - 58,512,413 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	59,009,700 - 59,023,359 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	63,701,517 - 63,715,161 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	63,701,517 - 63,715,157	NCBI
Celera	19	56,053,816 - 56,067,542 (-)	NCBI		Celera
Cytogenetic Map	19	q13.43	NCBI
HuRef	19	55,319,377 - 55,333,864 (-)	NCBI		HuRef
CHM1_1	19	59,003,732 - 59,017,394 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	61,594,402 - 61,607,985 (-)	NCBI		T2T-CHM13v2.0

Slc27a5
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	12,722,273 - 12,732,119 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	12,722,273 - 12,732,119 (-)	Ensembl		GRCm39 Ensembl
GRCm38	7	12,988,346 - 12,998,192 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	12,988,346 - 12,998,192 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	13,573,695 - 13,583,541 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	11,888,532 - 11,898,329 (-)	NCBI		MGSCv36	mm8
Celera	7	10,613,981 - 10,626,137 (-)	NCBI		Celera
Cytogenetic Map	7	A1	NCBI
cM Map	7	7.71	NCBI

Slc27a5
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	82,688,742 - 82,699,335 (-)	NCBI		GRCr8
mRatBN7.2	1	73,616,556 - 73,627,149 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	73,616,564 - 73,627,172 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	78,996,966 - 79,007,611 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	87,561,304 - 87,571,949 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	80,752,046 - 80,762,691 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	65,576,599 - 65,587,192 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	65,576,535 - 65,587,186 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	66,387,832 - 66,398,425 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	72,924,630 - 72,935,223 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	73,002,740 - 73,013,332 (+)	NCBI
Celera	1	60,212,177 - 60,222,770 (+)	NCBI		Celera
Cytogenetic Map	1	q21	NCBI

Slc27a5
(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_004955584	1,112,117 - 1,121,323 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955584	1,112,387 - 1,121,500 (-)	NCBI	ChiLan1.0	ChiLan1.0

SLC27A5
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	99,435,140 - 99,438,388 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	99,833,542 - 99,842,039 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	100,048,410 - 100,056,905 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	100,041,887 - 100,056,901 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	99,693,751 - 99,702,249 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	99,406,581 - 99,415,077 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	100,161,220 - 100,169,717 (+)	NCBI		UU_Cfam_GSD_1.0

Slc27a5
(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	218,019,774 - 218,029,145 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004937062	89,664 - 98,113 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004937062	90,217 - 98,562 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SLC27A5
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	63,065,830 - 63,075,202 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	63,068,880 - 63,075,246 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

SLC27A5
(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	50,782,713 - 50,793,816 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	50,781,544 - 50,792,515 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666045	4,088,423 - 4,092,128 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Slc27a5
(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_004624832	84,552 - 92,556 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624832	84,456 - 92,706 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_003816626	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_003816627	(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:

ENSPPAT00000058904 ⟹ ENSPPAP00000036014

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
PanPan1.1 Ensembl	19	64,329,567 - 64,342,630 (-)	Ensembl

RefSeq Acc Id:

XM_003816626 ⟹ XP_003816674

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
NHGRI_mPanPan1-v2	20	64,768,032 - 64,788,131 (-)	NCBI
NHGRI_mPanPan1	19	66,555,906 - 66,576,003 (-)	NCBI
Mhudiblu_PPA_v0	19	55,507,455 - 55,520,448 (-)	NCBI
PanPan1.1	19	64,329,567 - 64,342,630 (-)	NCBI

Sequence:

show sequence

AGCAGTGCCAGGGCCACCACCCCTGGGGAGGAGCCACTGGGCTACTCTTGAGGGGCCAGAGGTG
AGCCTGAACACTCCACAGCTGCTGCTCCTAGGGAGGAGCTGGTACCATGGGTGTCAGGCAACAG
TTGGCCTTGCTGCTGCTGCTGCTGCTCCTGCTCTGGGGCCTGGGGCAGCCAGTGTGGCCAGTGG
CTGTGGCCTTGACCCTGCGCTGGCTCCTGGGGGATCCCACATGTTGCGTGCTACTTGGGCTGGC
CATGTTAGCACGGCCCTGGCTCAGCCCCTGGGTGCCCCATGGGCTGAGCCTGGCAGCTGCAGCC
CTGGCACTAACCCTCCTGCCAGCACGGCTGCCCCCAGGACTACGCTGGCTGCCGGCTGATGCGA
TCTTCTTGGCCAAGATCCTCCACCTGGGCCTGAAGATCAGGGGATGCTTGAGCCGGCAGCCGCC
TGACACCTTTGTAGATGCCTTCGAGCGGCGAACACGAGCGCAGCCTGGCAGGGCATTCTTGGTG
TGGACGGGGCCTGGGGCCGGCTCAGTCACCTTTGGTGAGCTGGATGCCCGGGCCTGCCAGGCGG
CATGGGCCCTGAAGGCTGAGCTGGGTGACCCTGCGAGCCTGTGTGCCGGGGAGCCTACTGCCCT
CCTTGTGCTGGCTTCCCAGGCCGTTCCAGCCCTGTGTATGTGGCTGGGGCTGGCCAAGCTGGGC
TGCCCAACAGCCTGGATCAACCCGCATGGCCGGGGGATGCCCCTGGCGCACTCTGTGCTGAGCT
CTGGGGCCCGGGTGCTGGTGGTGGACCCAGACCTCCGGGAGAGCCTGGAGGAGATCCTTCCCAA
GCTGCAGGCTGAGAACATCCGCTGCTTCTACCTCAGCCATACCTCCCCTACACCAGGGGTGGGG
GCTCTGGGGGCTGCCCTGGATGCGGCGCCCTCCCACCCAGTGCCTGCTGACCTGCGTGCTGGGA
TCACATGGAGAAGCCCTGCCCTCTTCATCTATACCTCGGGGACCACTGGCCTCCCGAAGCCAGC
CATCCTCACGCATGAGCGGGTACTGCAGATGAGCAAGATGCTGTCCTTATCTGGGGCCACAGCT
GATGATGTGGTTTACACGGTCCTGCCTCTGTACCACGTGATGGGACTTGTCGTTGGGATCCTCG
GCTGCTTAGATCTCGGAGCCACCTGTGTTCTGGCCCCCAAGTTCTCTACTTCCTGCTTCTGGGA
TGACTGTCAGCAGCATGGCGTGACAGTGATCCTGTATGTGGGCGAGCTCCTGCGGTACTTGTGT
AACATTCCCCAGCAACCAGAGGACCGGACACATACAGTCCGCCTGGCAATGGGCAATGGACTAC
GGGCTGATGTGTGGGAGACCTTCCAGCAGCGCTTCGGTCCTATTCGGATCTGGGAAGTCTACGG
CTCCACAGAAGGCAACATGGGCTTAGTCAACTATGTGGGGCGCTGCGGGGCCCTGGGCAAGATG
AGCTGCCTCCTCCGAATGCTGTCCCCGTTTGAGCTGGTGCAGTTCGACATGGAAGCGGCGGAGC
CTGTGAGGGACAATCAGGGCTTCTGCATCCCTGTAGGGCTAGGGGAGCCGGGGCTGCTGCTGAC
CAAGGTGGTAAGCCAGCAACCCTTCGTGGGCTACCGCGGCCCCCGAGAGCTGTCGGAACGGAAG
CTGGTGCGCAACGTGCGGCAATCGGGCGACGTTTACTACAACACCGGGGACGTACTGGCCATGG
ACCGCGAAGGCTTCCTCTACTTCCGCGACCGCCTCGGGGACACCTTCCGATGGAAGGGCGAGAA
CGTGTCCACGCACGAGGTGGAGGGCGTGTTGTCGCAGGTGGACTTCCTGCAACAGGTTAACGTG
TATGGCGTGTGCGTGCCAGGGTGTGAGGGTAAGGTGGGCATGGCTGCTGTGCAGCTAGCCCCCG
GCCAGACTTTCGACGGGGAGAAGTTGTACCAGCACGTTCGCGCTTGGCTCCCTGCCTACGCTAC
CCCCCATTTCATCCGCATCCAGGACGCCATGGAGGTCACCAGCACGTTCAAACTGATGAAGACC
CGGTTGGTGCGTGAGGGCTTCAATGTGGGGATCGTGGTTGACCCTCTGTTTGTACTGGACAACC
GGGCCCAGTCCTTCCGGCCCCTGACGGCAGAAATGTACCAGGCTGTGTGTGAGGGAACCTGGAG
GCTCTGACCACCTGGCCAACCCACTGGGGTAGGGATCAAAGCCAGCCACCCCCACCCCAACACA
CTCGGTGTCCCTTTCATCCTGGGCCTGCATGAATCCCAGCCTGGCCATACCCTCAACCTCAGTG
GGCTGGAAATGACAGTGGGCCCTGTAGCAGTGGCAGAATAAACTCAGATGTGTTCACAGAA

hide sequence

Protein Sequences


Protein RefSeqs	XP_003816674	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSPPAP00000036014
	ENSPPAP00000036014.1

RefSeq Acc Id:

XP_003816674 ⟸ XM_003816626

- UniProtKB:

A0A2R9C256 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MGVRQQLALLLLLLLLLWGLGQPVWPVAVALTLRWLLGDPTCCVLLGLAMLARPWLSPWVPHGL
SLAAAALALTLLPARLPPGLRWLPADAIFLAKILHLGLKIRGCLSRQPPDTFVDAFERRTRAQP
GRAFLVWTGPGAGSVTFGELDARACQAAWALKAELGDPASLCAGEPTALLVLASQAVPALCMWL
GLAKLGCPTAWINPHGRGMPLAHSVLSSGARVLVVDPDLRESLEEILPKLQAENIRCFYLSHTS
PTPGVGALGAALDAAPSHPVPADLRAGITWRSPALFIYTSGTTGLPKPAILTHERVLQMSKMLS
LSGATADDVVYTVLPLYHVMGLVVGILGCLDLGATCVLAPKFSTSCFWDDCQQHGVTVILYVGE
LLRYLCNIPQQPEDRTHTVRLAMGNGLRADVWETFQQRFGPIRIWEVYGSTEGNMGLVNYVGRC
GALGKMSCLLRMLSPFELVQFDMEAAEPVRDNQGFCIPVGLGEPGLLLTKVVSQQPFVGYRGPR
ELSERKLVRNVRQSGDVYYNTGDVLAMDREGFLYFRDRLGDTFRWKGENVSTHEVEGVLSQVDF
LQQVNVYGVCVPGCEGKVGMAAVQLAPGQTFDGEKLYQHVRAWLPAYATPHFIRIQDAMEVTST
FKLMKTRLVREGFNVGIVVDPLFVLDNRAQSFRPLTAEMYQAVCEGTWRL

hide sequence

RefSeq Acc Id:

ENSPPAP00000036014 ⟸ ENSPPAT00000058904

Protein Domains

AMP-binding enzyme C-terminal AMP-dependent synthetase/ligase

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSPPAG00000040789	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSPPAT00000058904.1	UniProtKB/TrEMBL
Gene3D-CATH	3.30.300.30	UniProtKB/TrEMBL
	3.40.50.12780	UniProtKB/TrEMBL
InterPro	AMP-bd_C	UniProtKB/TrEMBL
	AMP-bd_C_sf	UniProtKB/TrEMBL
	AMP-binding_CS	UniProtKB/TrEMBL
	AMP-dep_Synth/Lig	UniProtKB/TrEMBL
	ANL_N_sf	UniProtKB/TrEMBL
KEGG Report	pps:100973518	UniProtKB/TrEMBL
NCBI Gene	SLC27A5	ENTREZGENE
PANTHER	LONG-CHAIN FATTY ACID TRANSPORT PROTEIN	UniProtKB/TrEMBL
	PTHR43107:SF4	UniProtKB/TrEMBL
Pfam	AMP-binding	UniProtKB/TrEMBL
	AMP-binding_C	UniProtKB/TrEMBL
PROSITE	AMP_BINDING	UniProtKB/TrEMBL
Superfamily-SCOP	Acetyl-CoA synthetase-like	UniProtKB/TrEMBL
UniProt	A0A2R9C256	ENTREZGENE, UniProtKB/TrEMBL

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)

Imported Disease Annotations - ClinVar

Imported Annotations - SMPDB

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Imported Disease Annotations - ClinVar

Imported Annotations - SMPDB