SRD5A2 (steroid 5 alpha-reductase 2)

Gene: SRD5A2 (steroid 5 alpha-reductase 2) Pan paniscus

Analyze

Symbol:

SRD5A2

Name:

steroid 5 alpha-reductase 2

RGD ID:

11750152

Description:

ENCODES a protein that exhibits 3-oxo-5-alpha-steroid 4-dehydrogenase activity (ortholog); amide binding (ortholog); INVOLVED IN androgen biosynthetic process (ortholog); androgen metabolic process (ortholog); biphenyl metabolic process (ortholog); PARTICIPATES IN testosterone biosynthetic pathway; ASSOCIATED WITH alopecia (ortholog); autism spectrum disorder (ortholog); Autoinflammation with Infantile Enterocolitis (ortholog); FOUND IN cell body fiber (ortholog); neuronal cell body (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

3-oxo-5-alpha-steroid 4-dehydrogenase 2

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	12	94,913,580 - 94,967,170 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	2A	94,917,555 - 94,971,145 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	2A	31,542,646 - 31,597,394 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	2A	31,610,487 - 31,665,718 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	2A	31,610,487 - 31,665,718 (-)	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

alopecia (ISO)

autism spectrum disorder (ISO)

Autoinflammation with Infantile Enterocolitis (ISO)

breast carcinoma (ISO)

diabetes mellitus (ISO)

Endometrial Neoplasms (ISO)

endometriosis (ISO)

familial cold autoinflammatory syndrome 4 (ISO)

genetic disease (ISO)

hereditary spastic paraplegia 4 (ISO)

hyperprolactinemia (ISO)

hypogonadism (ISO)

hypospadias (ISO)

Penis Agenesis (ISO)

prostate cancer (ISO)

prostatic hypertrophy (ISO)

Prostatic Neoplasms (ISO)

Pseudovaginal Perineoscrotal Hypospadias (ISO)

xanthinuria (ISO)

xanthinuria type II (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

androgen biosynthetic process (IEA,ISO)

androgen metabolic process (IEA,ISO)

biphenyl metabolic process (ISO)

bone development (ISO)

brassinosteroid biosynthetic process (IEA)

dibenzo-p-dioxin metabolic process (ISO)

female genitalia development (ISO)

hippocampus development (ISO)

hypothalamus development (ISO)

male genitalia development (IEA,ISO)

male gonad development (IEA,ISO)

phthalate metabolic process (ISO)

response to biphenyl (ISO)

response to follicle-stimulating hormone (ISO)

response to nutrient levels (ISO)

response to organic cyclic compound (ISO)

response to peptide hormone (ISO)

response to steroid hormone (ISO)

response to testosterone (ISO)

response to xenobiotic stimulus (ISO)

sex differentiation (IEA)

steroid biosynthetic process (IEA,ISO)

steroid catabolic process (ISO)

steroid metabolic process (IEA)

testosterone biosynthetic process (IEA)

Cellular Component

cell body fiber (ISO)

intracellular membrane-bounded organelle (IEA)

membrane (IEA)

neuronal cell body (ISO)

Molecular Function

3-oxo-5-alpha-steroid 4-dehydrogenase activity (IEA,ISO)

3-oxo-5alpha-steroid 4-dehydrogenase (NADP+) activity (IEA)

amide binding (ISO)

oxidoreductase activity (IEA)

protein binding (ISO)

steroid dehydrogenase activity (IEA)

testosterone dehydrogenase [NAD(P)] activity (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

testosterone biosynthetic pathway (ISO)

References

Additional References at PubMed

PMID:22301074

Genomics

Comparative Map Data

SRD5A2
(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	12	94,913,580 - 94,967,170 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	2A	94,917,555 - 94,971,145 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	2A	31,542,646 - 31,597,394 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	2A	31,610,487 - 31,665,718 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	2A	31,610,487 - 31,665,718 (-)	Ensembl	panpan1.1		panPan2

SRD5A2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	31,522,480 - 31,663,009 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	31,522,480 - 31,580,938 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	31,747,550 - 31,806,007 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	31,603,160 - 31,659,544 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	31,661,306 - 31,717,691	NCBI
Celera	2	31,590,884 - 31,647,296 (-)	NCBI		Celera
Cytogenetic Map	2	p23.1	NCBI
HuRef	2	31,485,637 - 31,542,001 (-)	NCBI		HuRef
CHM1_1	2	31,678,089 - 31,734,473 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	2	31,567,195 - 31,707,768 (-)	NCBI		T2T-CHM13v2.0

Srd5a2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	74,321,886 - 74,354,855 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	74,323,950 - 74,354,911 (-)	Ensembl		GRCm39 Ensembl
GRCm38	17	74,014,891 - 74,047,860 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	74,016,955 - 74,047,916 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	74,367,046 - 74,397,256 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	73,922,606 - 73,952,814 (-)	NCBI		MGSCv36	mm8
Celera	17	78,309,438 - 78,339,442 (-)	NCBI		Celera
Cytogenetic Map	17	E2	NCBI
cM Map	17	45.39	NCBI

Srd5a2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	6	27,178,089 - 27,217,588 (+)	NCBI		GRCr8
mRatBN7.2	6	21,426,225 - 21,465,727 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	6	21,426,215 - 21,462,112 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	6	21,755,011 - 21,794,514 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	6	22,070,851 - 22,110,348 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	6	21,551,287 - 21,590,788 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	6	25,279,635 - 25,315,501 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	6	25,279,626 - 25,315,511 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	6	35,127,532 - 35,163,398 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	6	21,453,521 - 21,489,408 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	6	21,456,473 - 21,492,397 (+)	NCBI
Celera	6	20,976,906 - 21,012,848 (+)	NCBI		Celera
Cytogenetic Map	6	q13	NCBI

Srd5a2
(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_004955441	10,443 - 95,743 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955441	12,149 - 95,733 (-)	NCBI	ChiLan1.0	ChiLan1.0

SRD5A2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	17	25,017,113 - 25,056,156 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	17	25,017,113 - 25,056,544 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	17	24,811,155 - 24,850,233 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	17	25,580,015 - 25,620,097 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	17	25,580,843 - 25,620,171 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	17	24,887,475 - 24,926,628 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	17	24,946,476 - 24,985,654 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	17	25,049,043 - 25,087,911 (-)	NCBI		UU_Cfam_GSD_1.0

Srd5a2
(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_024406292	69,130,023 - 69,175,570 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936493	1,663,911 - 1,708,502 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936493	1,663,999 - 1,708,530 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SRD5A2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	3	107,840,200 - 107,918,350 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	3	107,840,200 - 107,918,351 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	3	114,644,279 - 114,657,350 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SRD5A2
(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	14	75,915,495 - 75,971,280 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	14	75,917,260 - 75,970,365 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666045	36,088,943 - 36,288,753 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Srd5a2
(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_004624738	13,253,729 - 13,321,448 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624738	13,254,998 - 13,321,360 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_003827163	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JARIFH020000012	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSPPAT00000041740 ⟹ ENSPPAP00000018992

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
PanPan1.1 Ensembl	2A	31,610,487 - 31,665,718 (-)	Ensembl

RefSeq Acc Id:

XM_003827163 ⟹ XP_003827211

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
NHGRI_mPanPan1-v2	12	94,913,580 - 94,967,170 (+)	NCBI
NHGRI_mPanPan1	2A	94,917,555 - 94,971,145 (+)	NCBI
Mhudiblu_PPA_v0	2A	31,542,646 - 31,597,394 (-)	NCBI
PanPan1.1	2A	31,610,487 - 31,665,718 (-)	NCBI

Sequence:

show sequence

GGAGGGCAGCGGCCACCGGCGAGGAACACGGCGCGATGCAGGTTCAGTGCCAGCAGAGCCCAGT
GCTGGCAGGCAGCGCCACTTTGGTCGCCCTTGGGGCACTGGCCTTGTACGTCGCGAAGCCCTCC
GGCTACGGGAAGCACACGGAGAGCTTGAAGCCGGCGGCTACCCGCCTGCCAGCCCGCGCCGCCT
GGTTCCTGCAGGAGCTGCCTTCCTTCGCGGTGCCCGCGGGGATCCTCGCCCGGCAGCCCCTCTC
CCTCTTCGGGCCACCTGGGACGGTACTTCTGGGCCTCTTCTGCGTACATTACTTCCACAGGACA
TTTGTGTACTCACTGCTCAATCGAGGGAGGCCTTATCCAGCTATACTCATTCTCAGAGGCATTG
CCTTCTGCACTGGAAATGGAGTCCTTCAAGGCTACTATCTGATTTACTGTGCTGAATACCCTGA
TGGGTGGTACACAGACATACGGTTTAGCTTGGGTGTCTTCTTATTTATTTTGGGAATGGGAATA
AACATTCATAGTGACTATATATTGCGCCAGCTCAGGAAGCCTGGAGAAATCAGCTACAGGATTC
CACAAGGTGGCTTGTTTACGTATGTTTCTGGAGCCAATTTCCTCGGTGAGATCATTGAATGGAT
CGGCTATGCCCTGGCCACTTGGTCCCTCCCAGCACTTGCATTTGCATTTTTCTCACTTTGTTTC
CTTGGGCTGCGAGCTTTTCACCACCATAGGTTCTACCTCAAGATGTTTGAGGACTACCCCAAAT
CTCGGAAAGCCCTTATTCCATTCATCTTTTAAAGAAACCAAATTAAAAAGGAGCAGAGCTCCCA
CAATGCTGATGAAAACTGTCAAGCTGCTGAAACTGTAATTTTCATGATATAATAGTCCTTCATA
TATATATATATATATATATATATATGTATATATATAATAGTAGGTCTCCTGGCATTCTGCCAGC
TGGCCTGGGGATTCTGAGTGGTGTCTGCTTAGAGTTTACTCCTACCCTTCCAGGGACCCCTATC
CTGATCCCCAACTGAAGCTTCAAAAAGCCACTTTTCCAAATGGCGACAGTTGCTTCTTAGCTAT
TGCTCTGAGAAAGTACAAACTTCTCCTGTGTCTTTCACCGGGCAATCCAAGTACATGTGGCTTC
ATACCCACTCCCTGTCAATGCAGGACGACTCTGTAATCAAGAATTTTTTGACTTGAAGGCAGTG
CTTATAGACCTTATTAAAGGTATGCATTTTATACATGTAACAGAGTAGCAGAAATTTAAACTCT
GAAGCCACAAAGACCCAGAGCAAACCCACTCCCAAATGAAAACCCCAGTCATGGCTTCCTTTTT
TCTTGGTTAATTAGGAAAGATGAGAAATTATTAGGTAGACCTTGAATACAGGAGCCCTCTCCTC
ATAGTGCTGAAAAGATACTGATGCATTGACCTCATTTCAAATTTGTGCAGTGTCTTAGTTGATG
AGTGCCTCTGTTTTCCAGAAGATTTCACAATCCCTGGAAAACTGGTATGGCTATTCTTGAAGGC
CAGGTTTTAATAACCACAAACAAAAAGGCATGACCCTGGATGGCTACTGAGAGAGTAGAGAACA
ACATGACCCTGGATGGCTACTAAGAGGATAGAGAACAGTTTTACAATAGACATTGCAAACTCTC
ATGTTTTTGGAAACTAGTGGCAATATCCAAATAATGAGTAGTGTAAAACAAAGAGAATTAATGA
TGAGGTTACATGCTGCTTGCCTCCACCAGATGTCCACAACAATATGAAGTACAGCAGAAGCCCC
AAGCAACTTTCCTTTCCTGGAGCTTCTTCCTTGTAGTTCTCAGGACCTGTTCAAGAAGGTATCT
CCTAGGGGCAGCTTGAATGCCTCCCTCAAACGACCTGCAGGCAGAGACTGAAAATTGCAGACAG
AGGGGCACATCTGGGCAGAAAACCTGTTTTGTTTGGCTCAGACATATAGTTTTTTTTTTTTTAC
AAAGTTTCAAAAACTTAAAAATCAGGAGATTCCTTCATAAAACTCTGGCATTCTAGTTTCATTT
AAAAAGTTGGAGGATCTGAGCATACAGAGCCCACATTTCCACACCAGAACTGGAACTACGTAGC
TAGTAAGCATTTGAGTTTGCAAACTCTTGTGAAGCGGTCACCCCAGCATGAGTGCTGAGATATG
GACTCTCTAAGGAAGGGGCCGAACGCTTGTAATTGGAATACATGGAAATATTTGTCTTCTCAGG
CCTATGTTTGCGGAATGCATTGTCAATATTTAGCAAACTGTTTTGAGAAATGAGCACCAGTGGT
ACTAAGTACAGAAACTCACTATATAAGTCACATAGGAAACTTGAAAGGTCTGAGGATGATGTAG
ATTACTGAAAAATACAAATTGCAATCATATAAATAAGTGTTTTTGTTGTTCATTAAATACCTTT
AAATCATGGATGTTAAGCAGTTTTGTTTGAATTAAAATATCCTGGGACTTCTGGA

hide sequence

Protein Sequences


Protein RefSeqs	XP_003827211	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSPPAP00000018992
	ENSPPAP00000018992.1

RefSeq Acc Id:

XP_003827211 ⟸ XM_003827163

- UniProtKB:

A0A2R9ANP5 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MQVQCQQSPVLAGSATLVALGALALYVAKPSGYGKHTESLKPAATRLPARAAWFLQELPSFAVP
AGILARQPLSLFGPPGTVLLGLFCVHYFHRTFVYSLLNRGRPYPAILILRGIAFCTGNGVLQGY
YLIYCAEYPDGWYTDIRFSLGVFLFILGMGINIHSDYILRQLRKPGEISYRIPQGGLFTYVSGA
NFLGEIIEWIGYALATWSLPALAFAFFSLCFLGLRAFHHHRFYLKMFEDYPKSRKALIPFIF

hide sequence

RefSeq Acc Id:

ENSPPAP00000018992 ⟸ ENSPPAT00000041740

Protein Domains

Steroid 5-alpha reductase C-terminal

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSPPAG00000032664	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSPPAT00000041740.1	UniProtKB/TrEMBL
Gene3D-CATH	1.20.120.1630	UniProtKB/TrEMBL
InterPro	3-oxo-5-alpha-steroid_4-DH	UniProtKB/TrEMBL
	3-oxo-5_a-steroid_4-DH_C	UniProtKB/TrEMBL
	SRD5A/TECR	UniProtKB/TrEMBL
KEGG Report	pps:100986960	UniProtKB/TrEMBL
NCBI Gene	SRD5A2	ENTREZGENE
PANTHER	3-OXO-5-ALPHA-STEROID 4-DEHYDROGENASE 2	UniProtKB/TrEMBL
	PTHR10556	UniProtKB/TrEMBL
Pfam	Steroid_dh	UniProtKB/TrEMBL
PIRSF	5_alpha-SR2	UniProtKB/TrEMBL
PROSITE	S5A_REDUCTASE	UniProtKB/TrEMBL
UniProt	A0A2R9ANP5	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 Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

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