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Gene: HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2) Chlorocebus sabaeus

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Symbol:

HSD11B2

Name:

hydroxysteroid 11-beta dehydrogenase 2

RGD ID:

18751783

Description:

ENCODES a protein that exhibits NAD binding (ortholog); steroid binding (ortholog); INVOLVED IN female pregnancy (ortholog); glucocorticoid metabolic process (ortholog); regulation of blood volume by renal aldosterone (ortholog); PARTICIPATES IN 11-beta-hydroxylase deficiency pathway; 17-alpha-hydroxylase deficiency pathway; 21-alpha-hydroxylase deficiency pathway; ASSOCIATED WITH apparent mineralocorticoid excess syndrome (ortholog); asthma (ortholog); autosomal dominant dyskeratosis congenita 6 (ortholog); FOUND IN intracellular membrane-bounded organelle (inferred)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

corticosteroid 11-beta-dehydrogenase isozyme 2

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

ChlSab1.1 - Green Monkey 1.1 Assembly

Position:

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	5	60,017,967 - 60,040,959 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	5	60,019,434 - 60,025,353 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666047	22,768,265 - 22,774,736 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

apparent mineralocorticoid excess syndrome (ISO)

asthma (ISO)

autosomal dominant dyskeratosis congenita 6 (ISO)

Chromosome 16q12 Duplication Syndrome (ISO)

fetal alcohol spectrum disorder (ISO)

Fetal Growth Retardation (ISO)

genetic disease (ISO)

hypertension (ISO)

inherited metabolic disorder (ISO)

liver cirrhosis (ISO)

myocardial infarction (ISO)

nephrotic syndrome (ISO)

obesity (ISO)

Pregnancy Complications (ISO)

type 1 diabetes mellitus (ISO)

type 2 diabetes mellitus (ISO)

ureteral obstruction (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cortisol metabolic process (IEA)

female pregnancy (IEA,ISO)

glucocorticoid metabolic process (IEA,ISO)

regulation of blood volume by renal aldosterone (ISO)

response to food (ISO)

response to glucocorticoid (ISO)

response to hypoxia (ISO)

response to insulin (ISO)

response to steroid hormone (ISO)

response to xenobiotic stimulus (ISO)

steroid metabolic process (IEA)

Cellular Component

intracellular membrane-bounded organelle (IEA)

Molecular Function

11-beta-hydroxysteroid dehydrogenase (NAD+) activity (IEA)

NAD binding (ISO)

oxidoreductase activity (IEA)

oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (IEA)

steroid binding (ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

11-beta-hydroxylase deficiency pathway (ISO)

17-alpha-hydroxylase deficiency pathway (ISO)

21-alpha-hydroxylase deficiency pathway (ISO)

apparent mineralocorticoid excess syndrome pathway (ISO)

lipoid congenital adrenal hyperplasia pathway (ISO)

steroid hormone biosynthetic pathway (ISO)

References

Additional References at PubMed

PMID:22301074

Genomics

Comparative Map Data

HSD11B2
(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	5	60,017,967 - 60,040,959 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	5	60,019,434 - 60,025,353 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666047	22,768,265 - 22,774,736 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

HSD11B2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	67,429,801 - 67,437,553 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	67,430,652 - 67,437,553 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	67,465,024 - 67,471,456 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	66,022,537 - 66,028,957 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	66,022,536 - 66,028,953	NCBI
Celera	16	51,973,237 - 51,979,660 (+)	NCBI		Celera
Cytogenetic Map	16	q22.1	NCBI
HuRef	16	53,338,306 - 53,344,605 (+)	NCBI		HuRef
CHM1_1	16	68,872,417 - 68,878,837 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	16	73,225,897 - 73,232,329 (+)	NCBI		T2T-CHM13v2.0

Hsd11b2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	106,245,378 - 106,250,620 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	106,245,387 - 106,250,620 (+)	Ensembl		GRCm39 Ensembl
GRCm38	8	105,518,746 - 105,523,988 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	105,518,755 - 105,523,988 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	108,042,646 - 108,047,888 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	108,407,983 - 108,412,647 (+)	NCBI		MGSCv36	mm8
Celera	8	109,741,823 - 109,747,238 (+)	NCBI		Celera
Cytogenetic Map	8	D3	NCBI
cM Map	8	53.04	NCBI

Hsd11b2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	19	50,307,569 - 50,312,812 (+)	NCBI		GRCr8
mRatBN7.2	19	33,397,656 - 33,402,899 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	19	33,397,656 - 33,402,899 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	19	40,213,241 - 40,218,484 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	19	40,866,577 - 40,871,820 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	19	43,164,244 - 43,169,492 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	19	37,476,083 - 37,481,326 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	19	37,476,095 - 37,481,307 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	19	48,341,841 - 48,347,084 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	19	35,336,342 - 35,341,585 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	19	35,341,222 - 35,346,466 (+)	NCBI
Celera	19	32,826,007 - 32,831,250 (+)	NCBI		Celera
Cytogenetic Map	19	q12	NCBI

Hsd11b2
(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_004955484	9,206,681 - 9,212,356 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955484	9,206,681 - 9,212,356 (-)	NCBI	ChiLan1.0	ChiLan1.0

HSD11B2
(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	18	76,960,361 - 76,967,114 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	16	82,873,017 - 82,880,656 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	16	47,776,118 - 47,782,861 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	16	67,150,354 - 67,171,417 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	16	67,165,215 - 67,171,417 (+)	Ensembl	panpan1.1		panPan2

HSD11B2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	81,966,397 - 81,970,301 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	81,966,937 - 81,968,991 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	81,956,062 - 81,961,586 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	82,401,695 - 82,407,218 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	82,402,235 - 82,407,218 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	82,227,839 - 82,233,361 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	81,908,941 - 81,914,465 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	82,552,387 - 82,557,914 (-)	NCBI		UU_Cfam_GSD_1.0

Hsd11b2
(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_024409349	41,700,829 - 41,706,486 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936475	17,882,575 - 17,887,748 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936475	17,882,663 - 17,888,708 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HSD11B2
(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	28,083,955 - 28,089,671 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	28,084,087 - 28,089,256 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	25,351,178 - 25,356,346 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

Hsd11b2
(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_004624746	18,883,353 - 18,889,402 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624746	18,883,587 - 18,889,205 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

ectoderm	endocrine system	hemolymphoid system	mesenchyme	mesoderm	nervous system	reproductive system
75	36	19	35	35	59	20

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_007993965	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_007993966	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JACDXN010000015	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSCSAT00000001928 ⟹ ENSCSAP00000000263

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
ChlSab1.1 Ensembl	5	60,019,434 - 60,025,353 (-)	Ensembl

RefSeq Acc Id:

XM_007993965 ⟹ XP_007992156

Type:

CODING

Position:

Green Monkey Assembly	Chr	Position (strand)	Source
ChlSab1.1	5	60,017,971 - 60,025,343 (-)	NCBI
Vero_WHO_p1.0	NW_023666047	22,768,265 - 22,774,736 (-)	NCBI

Sequence:

show sequence

CAGAGGAAGCCTGTGTCCCTCCCGCGCCCGAGGCCGGTGTTCCCCCACACTCCGCGCCCGGGCC
CAGACTCTCTTTCTCCCCGATCCCCGGCCCGGCTCCCGCCCCGCCCAGCCCCAGCCCGCTGGGC
CGCCATGGAGCGCTGGCCTTGGCCGTCGGGCGGCGCCTGGCTGCTCGTGGCTGCCCGCGCGCTG
CTGCAGCTGCTGCGCTCAGACCTGCGTCTGGGCCGCCCGCTGCTGGCGGCGCTGGCGCTGCTGG
CCGCGCTCGACTGGCTGTGCCAGCGCCTGCTGCCCCCGCCGGCCGCACTCGCCGTGCTGGCCGC
CGCCGGCTGGATCGCGTTGTCCCGCCTGGCGCGCCCGCAGCGCCTGCCGGTGGCCACTCGCGCG
GTGCTCATCACCGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAGAAACTGGACTCCATGG
GCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGTGCCATCGAGCTGCGTACCTG
CTGCTCCCCTCGCCTAAGGCTGCTGCAGCTGGACCTGACCAAACCAGGAGACATTAGCCGCGTG
CTAGAGTTCACCAAGGCCCACACCACCAGCACTGGCCTGTGGGGCCTGGTCAACAACGCAGGCC
ACAATGAAGTAGTTGCTGATGCGGAGCTGTCTCCAGTGGCCACTTTCCGTAGCTGCATGGAGGT
GAATTTCTTTGGCACACTCCAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGC
CGTATCGTGACTGTGGGCAGCCCAGCGGGGGACATGCCATATCCATGCTTGGGGGCCTATGGAA
CCTCCAAGGCGGCTGTGGCACTACTCATGGACACATTCAGCTGTGAACTCCTTCCCTGGGGGGT
CAAGGTCAGCATCATCCAGCCTGGCTGCTTCAAGACAGAGTCAGTGAGAAATGTGGGTCAGTGG
GAAAAGCGCAAGCAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTATGGCAAGG
ACTACATCGAACACTTGCACGGGCAGTTCCTGCGCTCGCTACGCCTGGCCATGTCCGACCTCAG
CCCAGTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCCGCTATTACCCC
GGCCAGGGCCTGGGGCTCATGTACTTCATCCACTACTACCTGCCTGAGGGCCTGCGGCGCCGCT
TCCTGCAGACCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAGCCTGGCGC
TACCCCACCACAGGACGCAGCCCAGGACCCAAACCTGAGCCTCGGCCCTTCCCCAGCAGTGGCT
CGGTGAGCCCTGTGCACCTATGGCCCAGCCACTGCAGCACAGAAGGCTCTGTGAGCCCTTGGTT
CCTCCCCGAAAACCCCCAGCATTACCATCCCCCAAGTCTGTCCTGGACCCTAGCCTAAAGGATC
CTGCCCCCACTTCATGCCCACTGCCGATGCCCAATCCAGGCCCGGTGAGGCCAAGGTTTCCCAG
TGTGCCTCTGCACCTCTCCACTGCTTCATGAGCCCAAACAGACCCTCCTGGCACAACACTCTAC
CCTGCAGCTTGGAGAACTCTGCTGGATGGGGAGTCTCGTGAAAGACCTCACTGCAGTCTTTCAC
AGGACTCTGCAGATGGTGCCTCTGCAAACTAAGGAGTGACTGGGTGGGTTGGGGTCCCCCTCAG
GATTGTTTCTCAGCACCAGTGCCTCAGTGCTGCAATTGAGGGTTAAATCCCAAGTGTCTCTTGA
CTGGCTCAAGAATTAGGGCCCCAACTACACGCCCCCAAGCCACAGGGAAGGTTGTACTGTACTT
CCCAATTGCCACATGTTAAATAAAGACAAATTTTTATTTCTTCTAAAATGCGGCAAGTGCTGTT
TGGAGGGGGTGACTGGCTGGCTGGCTGAGTGACATGATGTGGCCATGTGACAGGGTGGCAACTC
CTGGGGCTCAGCGTGGAGGCTGGGGACTCCCCTGGTAGACTCTGTGATTCATACCTCCCCCTCC
TCCACTGACGTGGGGCAAATCATTTAAGACCATGGGTTTCCTCATAGTGAAATAGGGGTAATGA
CCCTGATCCCAATTGCTTGAAGCAACTGGAAAGGCCAGGGGGGCCTCCAGGGCCAACACCTAGC
TTCCCAGGCCTGTATGCATCTGAGCCTCCAGCAGAAGGAGCTATCTTCCAGGAACTCCCCAACC
CTGAAGAATGTGGGCTGCTGACTGAGGGAGGGAGGTGGAGGCTTAGGCAGGGTTGCTTAGCAAG
GTGGGGTCACAAGGGAAATTAGGGGTCATGGAGAGGTACTAAGGCCTAAAGGAGACAGCAGACA
GTTGGGCTTAGAGAGGGCAGTTTTATTGTCTCAGAGGGGCAGGGCTGAGGGAGGGAGCTGACAA
GCAACATCCCCCCAGGCCCCAAGGACACACACACTCTATCCTTCCCATGGGCCACGGCTCTGGG
AGTGACTCACAGAAGGGAGAGGAGGCTCGAACTACCCCCAGCCCCCAGGGTTCTCAGGTTAGGG
AGTTAGGGAGGAACATGAAAGTGACCACATGCTTCTTAGACACATCAGCGGCTGTAAACACAGG
GCTGAGGGGGCCTCCTTGCTCTGGAGGGGGTCTTGGTCCATCCTTGGTGGGGGGTGCCCAGCCC
CTTTTCAGGCCTAAGAACAGTCTCTAAGAGAGTCAGGAGAACTGGGCAGCCGCTAGGACAGTGT
ACTATACCCTGGGCAGGCAGGTGAGCCACAGGCTTGTCACAGACCACACACCACACACACA

hide sequence

Protein Sequences


Protein RefSeqs	XP_007992156	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCSAP00000000263
	ENSCSAP00000000263.1

RefSeq Acc Id:	XP_007992156 ⟸ XM_007993965
- UniProtKB:	A0A0D9QV74 (UniProtKB/TrEMBL)

Ensembl Acc Id:

ENSCSAP00000000263 ⟸ ENSCSAT00000001928

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSCSAG00000003897	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSCSAT00000001928.1	UniProtKB/TrEMBL
Gene3D-CATH	NAD(P)-binding Rossmann-like Domain	UniProtKB/TrEMBL
InterPro	NAD(P)-bd_dom_sf	UniProtKB/TrEMBL
	Sc_DH/Rdtase_CS	UniProtKB/TrEMBL
	SDR_fam	UniProtKB/TrEMBL
KEGG Report	csab:103233278	UniProtKB/TrEMBL
NCBI Gene	HSD11B2	ENTREZGENE
PANTHER	CORTICOSTEROID 11-BETA-DEHYDROGENASE ISOZYME 2	UniProtKB/TrEMBL
	SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY 9C	UniProtKB/TrEMBL
Pfam	adh_short	UniProtKB/TrEMBL
PRINTS	GDHRDH	UniProtKB/TrEMBL
PROSITE	ADH_SHORT	UniProtKB/TrEMBL
Superfamily-SCOP	SSF51735	UniProtKB/TrEMBL
UniProt	A0A0D9QV74	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)

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Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB

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Imported Disease Annotations - ClinVar

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Imported Disease Annotations - OMIM

Imported Annotations - SMPDB