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Gene: Panx1 (pannexin 1) Chinchilla lanigera

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Symbol:

Panx1

Name:

pannexin 1

RGD ID:

8837597

Description:

ENCODES a protein that exhibits actin binding (ortholog); actin filament binding (ortholog); ATP transmembrane transporter activity (ortholog); INVOLVED IN ATP transport (ortholog); calcium ion transport (ortholog); cell-cell signaling (ortholog); PARTICIPATES IN neuron-to-neuron signaling pathway via the electrical synapse; ASSOCIATED WITH Acute Liver Failure (ortholog); autosomal recessive polycystic kidney disease (ortholog); Chemical and Drug Induced Liver Injury (ortholog); FOUND IN bleb (ortholog); endoplasmic reticulum (ortholog); gap junction (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

pannexin-1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Homo sapiens (human):	PANX1 (pannexin 1)	NCBI	Ortholog
Mus musculus (house mouse):	Panx1 (pannexin 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Rattus norvegicus (Norway rat):	Panx1 (Pannexin 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Pan paniscus (bonobo/pygmy chimpanzee):	PANX1 (pannexin 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Canis lupus familiaris (dog):	PANX1 (pannexin 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Panx1 (pannexin 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Sus scrofa (pig):	PANX1 (pannexin 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Chlorocebus sabaeus (green monkey):	PANX1 (pannexin 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Heterocephalus glaber (naked mole-rat):	Panx1 (pannexin 1)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline

Latest Assembly:

ChiLan1.0 - Chinchilla ChiLan1.0 Assembly

NCBI Annotation Information:

Annotation category: partial on reference assembly

Position:

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955414	401,188 - 448,470 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955414	405,483 - 448,470 (-)	NCBI	ChiLan1.0	ChiLan1.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Acute Liver Failure (ISO)

autosomal recessive polycystic kidney disease (ISO)

Chemical and Drug Induced Liver Injury (ISO)

depressive disorder (ISO)

intellectual disability (ISO)

Massive Hepatic Necrosis (ISO)

Oocyte/Zygote/Embryo Maturation Arrest 7 (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

ATP transport (ISO)

calcium ion transport (ISO)

cell-cell signaling (ISO)

monoatomic anion transmembrane transport (ISO)

monoatomic cation transport (ISO)

positive regulation of interleukin-1 alpha production (ISO)

positive regulation of interleukin-1 beta production (ISO)

positive regulation of macrophage cytokine production (ISO)

response to ATP (ISO)

response to ischemia (ISO)

Cellular Component

bleb (ISO)

endoplasmic reticulum (ISO)

gap junction (ISO)

plasma membrane (ISO)

protein-containing complex (ISO)

Molecular Function

actin binding (ISO)

actin filament binding (ISO)

ATP transmembrane transporter activity (ISO)

calcium channel activity (ISO)

gap junction channel activity (ISO)

gap junction hemi-channel activity (ISO)

identical protein binding (ISO)

leak channel activity (ISO)

monoatomic anion channel activity (ISO)

protease binding (ISO)

protein binding (ISO)

protein-containing complex binding (ISO)

scaffold protein binding (ISO)

signaling receptor binding (ISO)

structural molecule activity (ISO)

transmembrane transporter binding (ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

neuron-to-neuron signaling pathway via the electrical synapse (ISO)

References

References - curated

#	Reference Title	Reference Citation
1.	Transitive Annotation Pipeline	Automated assignment of GO, PW and RDO ISO annotations across species

Additional References at PubMed

PMID:30032202

Genomics

Comparative Map Data

Panx1
(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_004955414	401,188 - 448,470 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955414	405,483 - 448,470 (-)	NCBI	ChiLan1.0	ChiLan1.0

PANX1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	94,128,841 - 94,181,968 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	94,128,841 - 94,181,968 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	93,862,007 - 93,915,134 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	93,501,742 - 93,554,786 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	93,501,741 - 93,554,783	NCBI
Celera	11	91,149,894 - 91,202,958 (+)	NCBI		Celera
Cytogenetic Map	11	q21	NCBI
HuRef	11	89,937,250 - 89,990,295 (+)	NCBI		HuRef
CHM1_1	11	93,745,100 - 93,798,158 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	94,045,617 - 94,098,852 (+)	NCBI		T2T-CHM13v2.0

Panx1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	14,917,081 - 14,956,774 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	9	14,913,424 - 14,956,774 (-)	Ensembl		GRCm39 Ensembl
GRCm38	9	15,005,785 - 15,045,478 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	15,002,128 - 15,045,478 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	9	14,810,229 - 14,849,922 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	9	14,756,178 - 14,795,871 (-)	NCBI		MGSCv36	mm8
Celera	9	12,286,408 - 12,326,356 (-)	NCBI		Celera
Cytogenetic Map	9	A2	NCBI
cM Map	9	4.52	NCBI

Panx1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	8	20,128,783 - 20,171,200 (-)	NCBI		GRCr8
mRatBN7.2	8	11,851,176 - 11,889,774 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	8	11,850,730 - 11,889,774 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	8	15,835,505 - 15,873,902 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	8	14,133,250 - 14,171,653 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	8	12,114,170 - 12,153,042 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	8	13,567,185 - 13,606,040 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	8	13,566,739 - 13,606,040 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	8	13,508,401 - 13,547,151 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	8	11,809,752 - 11,849,392 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	8	11,809,751 - 11,849,392 (-)	NCBI
Celera	8	13,320,676 - 13,358,794 (-)	NCBI		Celera
Cytogenetic Map	8	q12	NCBI

PANX1
(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	9	94,981,323 - 95,136,371 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	96,074,806 - 96,126,726 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	89,142,686 - 89,295,972 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	92,628,760 - 92,685,118 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	92,628,760 - 92,685,109 (+)	Ensembl	panpan1.1		panPan2

PANX1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	21	6,665,730 - 6,715,272 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	21	6,668,269 - 6,715,858 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	21	6,675,643 - 6,724,808 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	21	6,846,046 - 6,895,302 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	21	6,846,046 - 6,895,402 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	21	6,626,593 - 6,676,016 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	21	6,695,903 - 6,745,264 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	21	6,746,177 - 6,795,582 (-)	NCBI		UU_Cfam_GSD_1.0

Panx1
(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_024404947	79,118,039 - 79,154,514 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936674	736,905 - 773,412 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936674	736,911 - 773,406 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PANX1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	9	26,443,815 - 26,491,002 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	9	26,443,425 - 26,491,010 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	9	30,047,789 - 30,182,476 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PANX1
(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	1	85,356,507 - 85,413,146 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	85,356,610 - 85,409,275 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666043	40,394,937 - 40,454,501 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Panx1
(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_004624735	38,766,981 - 38,819,092 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624735	38,766,973 - 38,823,284 (+)	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.

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_005379682	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AGCD01014726	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GBCB01075360	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GBDJ01421893	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSCLAT00000021539 ⟹ ENSCLAP00000021337

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0 Ensembl	NW_004955414	401,188 - 448,470 (-)	Ensembl

Ensembl Acc Id:

ENSCLAT00000021540 ⟹ ENSCLAP00000021338

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0 Ensembl	NW_004955414	401,188 - 433,648 (-)	Ensembl

RefSeq Acc Id:

XM_005379682 ⟹ XP_005379739

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0	NW_004955414	405,483 - 448,470 (-)	NCBI

Sequence:

show sequence

GCGCGGCGCGGGGCGGTGGCGAGGCGCGCGCAGGCGCGGCGCGCGCGGGAAGCTTTTTGTTCCC
GGCCGGCTGTCTGCCTCCCGGCGCGCGGGGAACGCGGAGCTCTGGTGGCCAGCCTGCGGGCCCG
GTCTGCACCCAGCCTCCTGCACACCGGCGGGCGGGGAGTCTTGCGCCTGGCGCAGAGCGAAGGC
CGCCGCGGGGGCCGGGCGCGCTGGGAGGACGGGCGGGCGGGATGCGCGCGCGGCGGGGCCGCCC
TCGAGGGGACCGCGGGAGCCGAGCGCCCGGCCGCTGACCGCGGGAGGGCCCCGCGCAGTGCGCA
CCAGCGGTGCCCGGTCGCCCTCTGGGCCTTCGGGCCGCAGCCATGGCCATCGCCCACCTGGCCA
CGGAGTACGTGTTCTCGGACTTCCTGCTGAAGGAGCCCGGCGAGCCCAAGTTCAAGGGGCTGCG
GCTGGAGCTGGCCGTGGACAAGATGGCCACGTGCATCGCCGTGGGGCTGCCGCTGCTGCTCATC
TCGCTGGCCTTCGCGCAGGAGATCTCCATGGGTACCCAAATAAGTTGCTTCTCCCCAAGTTCTT
TCTCCTGGCGTCAGGCTGCCTTTGTGGATTCTTATTGCTGGGCAGCTGTGCAGCAGAAGGGCTC
CCTGCAGAGCGAGTCTGGAAACCTCCCACTGTGGCTGCATAAGTTTTTCCCCTACATCCTGTTA
CTATTTGCCATCCTCCTGTACCTGCCACCCCTTTTCTGGCGTCTAGCAGCCGCTCCTCATATTT
GTTCCGACTTGAAGTTTATCATGGAAGAACTTGACAAAGTTTACAACCGTGCAATTAAGGCTGC
AAAGAGTGCCCGTGACCTTGACCTGAGAGATGGTGCCTACGCAGTTCCAGGTGTCAGCGAGAAT
GCAGGGCAGAGTTTGTGGGAGATATCTGAAAGCCATTTCAAGTACCCAATTGTAGAACAGTATT
TGAAGACAAAGAAGAACTCCAATAATTTAATCCTCAAGTACATTGGCTGCCGGCTGGCAACACT
CACCATCATAGTGTTAGCGTGTGTCTATCTGTGCTATTACTTTAGCCTGTCTTCACTCTCGGAT
GAATTTGTCTGCAGCATCAAATCGGGGATCTTGAGAAATGACAGCACTGTTCCTGATCGGTTTC
AGTGCAAACTCATTGCTGTTGGCATCTTCCAATTGCTCAGCTTCATTAACCTTGTGGTGTATGT
TCTGCTGACACCTGTGGTCATCTACACACTGTTTGTTCCATTCCGACAGAAGACAGATGTTCTC
ACAGTATATGAAATCCTGCCTACTTTTGATGTTCTGCATTTCAAATCCGAAGGGTACAATGACT
TGAGCCTCTATAACCTTTTCTTGGAAGAAAATATAAGTGAACTCAAGTCATACAAGTGTCTTAA
AGTACTGGAGAATATTAAAAGCAGTGGTCAGGGGATCGATCCAATGCTGCTCCTGACTAACCTG
GGCATGATCAAAATGGATATGATTGATGGCAAAACTCCCCTGTCTGCCATGACCAAGGGAGAGG
ATCAGGGGAGTCGGATGGCAGAGCTCAAAGATTTGAACATACACAGTGAAATGAAAGCAAATAA
TGAAGAGAAGAATGCTCGACAGAGACTTCTGAATTCTTCTTGCTGATGATTTTGTTCTTGAACT
TTGAGTCTCTGACTTCCAAGACACAGGATTCATTTCAACTAAAGCACTCCATTGGATTCACAGT
TGGTTTGCAGTAAATGGTTTTTGGTAGTGAAAGTGAGCATGTCTTATTGAGCTCCTAATGAACA
TAATGGTATACAAAATGTTATGAAGCTTAACTTCCTACAAGAAACACATGGAAATAAGTAAAAT
ATAGCAACTATCTATGTAGAAGTCCACACTGATGAAAAGTGGAACTCTTAAGAACAGTGCAGAG
CCTGTTAGAGCCTCAGAGACAATTTGTACCGTGCCCACGTGTGATGTGACCCAGGGCTTGCAGA
GAGCGAGTTTCAGGAGATCTTTCTTCAGGAGATTTGTTTTATTTGGTGAAATAAACATATCAGG
ATATAATTTAA

hide sequence

Protein Sequences


Protein RefSeqs	XP_005379739	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCLAP00000021337
	ENSCLAP00000021337.1
	ENSCLAP00000021338.1

RefSeq Acc Id:

XP_005379739 ⟸ XM_005379682

- UniProtKB:

A0A8C2W0S6 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MAIAHLATEYVFSDFLLKEPGEPKFKGLRLELAVDKMATCIAVGLPLLLISLAFAQEISMGTQI
SCFSPSSFSWRQAAFVDSYCWAAVQQKGSLQSESGNLPLWLHKFFPYILLLFAILLYLPPLFWR
LAAAPHICSDLKFIMEELDKVYNRAIKAAKSARDLDLRDGAYAVPGVSENAGQSLWEISESHFK
YPIVEQYLKTKKNSNNLILKYIGCRLATLTIIVLACVYLCYYFSLSSLSDEFVCSIKSGILRND
STVPDRFQCKLIAVGIFQLLSFINLVVYVLLTPVVIYTLFVPFRQKTDVLTVYEILPTFDVLHF
KSEGYNDLSLYNLFLEENISELKSYKCLKVLENIKSSGQGIDPMLLLTNLGMIKMDMIDGKTPL
SAMTKGEDQGSRMAELKDLNIHSEMKANNEEKNARQRLLNSSC

hide sequence

Ensembl Acc Id:

ENSCLAP00000021337 ⟸ ENSCLAT00000021539

Ensembl Acc Id:

ENSCLAP00000021338 ⟸ ENSCLAT00000021540

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSCLAG00000014612	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSCLAT00000021539	ENTREZGENE
	ENSCLAT00000021539.1	UniProtKB/TrEMBL
	ENSCLAT00000021540.1	UniProtKB/TrEMBL
InterPro	Innexin	UniProtKB/TrEMBL
	Pannexin	UniProtKB/TrEMBL
NCBI Gene	Panx1	ENTREZGENE
PANTHER	PANNEXIN-1	UniProtKB/TrEMBL
	PTHR15759	UniProtKB/TrEMBL
Pfam	Innexin	UniProtKB/TrEMBL
PROSITE	PANNEXIN	UniProtKB/TrEMBL
UniProt	A0A8C2VVM8_CHILA	UniProtKB/TrEMBL
	A0A8C2W0S6	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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