Aph1b (aph-1 homolog B, gamma-secretase subunit)

Gene: Aph1b (aph-1 homolog B, gamma-secretase subunit) Chinchilla lanigera

Analyze

Symbol:

Aph1b

Name:

aph-1 homolog B, gamma-secretase subunit

RGD ID:

8840490

Description:

ENCODES a protein that exhibits endopeptidase activator activity (ortholog); protein-macromolecule adaptor activity (ortholog); INVOLVED IN amyloid precursor protein catabolic process (ortholog); amyloid-beta formation (ortholog); locomotory behavior (ortholog); PARTICIPATES IN Notch signaling pathway; syndecan signaling pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Bloom syndrome (ortholog); colorectal cancer (ortholog); FOUND IN gamma-secretase complex (ortholog); membrane (ortholog); transport vesicle (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

APH1B gamma secretase subunit; gamma-secretase subunit APH-1B

RGD Orthologs

Alliance Genes

More Info

more info ...

Latest Assembly:

ChiLan1.0 - Chinchilla ChiLan1.0 Assembly

Position:

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955450	12,000,424 - 12,022,071 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955450	12,000,682 - 12,022,183 (-)	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

Alzheimer's disease (ISO)

Bloom syndrome (ISO)

colorectal cancer (ISO)

coronary artery disease (ISO)

genetic disease (ISO)

HIV Seropositivity (ISO)

hypertrophic cardiomyopathy (ISO)

nemaline myopathy 6 (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

amyloid precursor protein catabolic process (ISO)

amyloid-beta formation (ISO)

locomotory behavior (ISO)

membrane protein ectodomain proteolysis (ISO)

Notch receptor processing (ISO)

prepulse inhibition (ISO)

protein processing (ISO)

short-term memory (ISO)

synaptic transmission, dopaminergic (ISO)

synaptic transmission, glutamatergic (ISO)

Cellular Component

gamma-secretase complex (ISO)

membrane (ISO)

transport vesicle (ISO)

Molecular Function

endopeptidase activator activity (ISO)

protein binding (ISO)

protein-macromolecule adaptor activity (ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

Notch signaling pathway (ISO)

syndecan signaling pathway (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:22301074	PMID:30032202

Genomics

Comparative Map Data

Aph1b
(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_004955450	12,000,424 - 12,022,071 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955450	12,000,682 - 12,022,183 (-)	NCBI	ChiLan1.0	ChiLan1.0

APH1B
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	15	63,277,605 - 63,309,126 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	15	63,276,018 - 63,309,126 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	15	63,569,804 - 63,601,325 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	61,356,844 - 61,385,166 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	15	61,356,843 - 61,385,166	NCBI
Celera	15	40,448,497 - 40,480,071 (+)	NCBI		Celera
Cytogenetic Map	15	q22.2	NCBI
HuRef	15	40,392,589 - 40,424,164 (+)	NCBI		HuRef
CHM1_1	15	63,688,803 - 63,720,382 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	15	61,082,385 - 61,113,909 (+)	NCBI		T2T-CHM13v2.0

Aph1b
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	66,682,484 - 66,704,671 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	9	66,682,484 - 66,702,772 (-)	Ensembl		GRCm39 Ensembl
GRCm38	9	66,775,202 - 66,797,345 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	66,775,202 - 66,795,490 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	9	66,623,294 - 66,643,230 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	9	66,574,631 - 66,594,567 (-)	NCBI		MGSCv36	mm8
Celera	9	64,009,856 - 64,029,635 (-)	NCBI		Celera
Cytogenetic Map	9	C	NCBI
cM Map	9	36.12	NCBI

Aph1b
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	8	76,310,380 - 76,334,146 (-)	NCBI		GRCr8
mRatBN7.2	8	67,429,198 - 67,454,735 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	8	67,429,198 - 67,450,243 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	8	72,962,644 - 72,984,343 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	8	71,235,477 - 71,257,176 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	8	69,070,986 - 69,092,038 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	8	72,508,008 - 72,598,921 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	8	72,476,425 - 72,629,265 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	8	76,942,439 - 76,963,484 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	8	71,122,681 - 71,143,726 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	8	74,251,130 - 74,264,693 (+)	NCBI		Celera
Cytogenetic Map	8	q24	NCBI

APH1B
(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	16	52,526,034 - 52,554,488 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	15	56,702,155 - 56,733,766 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	15	42,224,593 - 42,256,202 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	15	60,520,031 - 60,551,599 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	15	60,520,031 - 60,551,599 (+)	Ensembl	panpan1.1		panPan2

APH1B
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	30	27,852,784 - 27,887,618 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	30	27,855,249 - 27,887,601 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	30	27,772,768 - 27,806,586 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	30	28,025,424 - 28,059,260 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	30	28,025,285 - 28,058,138 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	30	27,962,895 - 27,996,685 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	30	28,024,979 - 28,058,785 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	30	28,268,502 - 28,298,404 (+)	NCBI		UU_Cfam_GSD_1.0

Aph1b
(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_024408640	105,991,875 - 106,021,729 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936471	23,839,907 - 23,869,935 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936471	23,839,962 - 23,869,788 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

APH1B
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	108,730,298 - 108,763,401 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	108,549,297 - 108,763,279 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	119,981,006 - 119,988,547 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

APH1B
(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	26	20,236,666 - 20,265,167 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	26	20,240,015 - 20,265,151 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666048	121,135,804 - 121,164,327 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Aph1b
(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_004624781	9,217,741 - 9,249,477 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624781	9,152,359 - 9,249,467 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_005393791	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_013518982	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_013518983	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AGCD01042686	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GBDF01044997	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSCLAT00000021943 ⟹ ENSCLAP00000021740

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0 Ensembl	NW_004955450	12,000,424 - 12,022,071 (-)	Ensembl

RefSeq Acc Id:

XM_005393791 ⟹ XP_005393848

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0	NW_004955450	12,000,719 - 12,022,183 (-)	NCBI

Sequence:

show sequence

CCCGCCCTGTTCTGACCGCGCCGGGCGACCGCGCGGCTCCTCCCCGTCCCTCCGCGCCCGCCCG
GGCCCCTCGCGTCCAGTCCGCGTCCCTGCGCTGGCTTCCGCGGTCGCCATGACGGCGGCCGTGT
TTTTCGGCTGCGCCTTCATTGCCTTCGGGCCGGCGCTCGCCCTCTACGTCTTCACCATCGCCAC
AGAGCCGCTGCGTATCATCTTCCTCATCGCCGGAGCTTTCTTCTGGTTGGTGTCTCTACTGATT
TCCTCACTTTTTTGGTTCCTAGCAAGACTCATTATTGAAAACAAAGATGGGCCAACACAAAAAT
ATCTGCTAGTCTTTGGGGTGTTGCTCTCCGTCTTTATCCAAGAAATGTTCCGGTTTGCATATTA
TAGACTTCTAAAGAAAGCCAGTGAGGGTTTGAAGACCATAAATCCAGATGAGGCAGCACCCTCT
ATGCAATTGCTGGCCTATGTTTCTGGCTTGGGCTTTGGAATCATGAGTGGAGTGTTTTCCTTTG
TGAATACCTTGTCTAACTCCTTGGGGCCAGGGACGGTGGGCATCCATGGAGATTCCCCTCAGTT
CTTCCTCAACTCAGCTTTCATGACGCTGGTGATCATTTTGCTGCACGTGTTCTGGGGGATTGTA
TTTTTTGATGCCTGTGAGAAGAAGAAGTGGTACGTCCTCCTCATCGTTCTCCTAACGCATCTGC
TGGTGTCTGCCCAGGTGAGCATTGGTGCTGTGCGCACACTGAGTTTTGGAACTCAAGTCTGTGT
CTGAAATGGTATCTTCCAC

hide sequence

RefSeq Acc Id:

XM_013518982 ⟹ XP_013374436

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0	NW_004955450	12,000,689 - 12,021,791 (-)	NCBI

Sequence:

show sequence

GAGGACCTCTTGTGGCCCGGATGAGCAGCGGGTGGCGGAGTTCGCCCGGGCGCCCTTCCCGTTT
CTGCCGATGGAGACCTAGTTTGCCCCGTTCCCGCGGCGCCTGCAGTCTCCAGGCTGGAGGCCCT
CAGCGTCGGGACAGCAGAGCTTTCTTCTGGTTGGTGTCTCTACTGATTTCCTCACTTTTTTGGT
TCCTAGCAAGACTCATTATTGAAAACAAAGATGGGCCAACACAAAAATATCTGCTAGTCTTTGG
GGTGTTGCTCTCCGTCTTTATCCAAGAAATGTTCCGGTTTGCATATTATAGACTTCTAAAGAAA
GCCAGTGAGGGTTTGAAGACCATAAATCCAGATGAGGCAGCACCCTCTATGCAATTGCTGGCCT
ATGTTTCTGGCTTGGGCTTTGGAATCATGAGTGGAGTGTTTTCCTTTGTGAATACCTTGTCTAA
CTCCTTGGGGCCAGGGACGGTGGGCATCCATGGAGATTCCCCTCAGTTCTTCCTCAACTCAGCT
TTCATGACGCTGGTGATCATTTTGCTGCACGTGTTCTGGGGGATTGTATTTTTTGATGCCTGTG
AGAAGAAGAAGTGGTACGTCCTCCTCATCGTTCTCCTAACGCATCTGCTGGTGTCTGCCCAGGT
GAGCATTGGTGCTGTGCGCACACTGAGTTTTGGAACTCAAGTCTGTGTCTGAAATGGTATCTTC
CACTCCAAATGGAGCACGTGGAGGGTCAGGAAA

hide sequence

RefSeq Acc Id:

XM_013518983 ⟹ XP_013374437

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0	NW_004955450	12,000,682 - 12,021,792 (-)	NCBI

Sequence:

show sequence

TGAGGACCTCTTGTGGCCCGGATGAGCAGCGGGTGGCGGAGTTCGCCCGGGCGCCCTTCCCGTT
TCTGCCGATGGAGACCTAGTTTGCCCCGTTCCCGCGGCGCCTGCAGTCTCCAGGCTGGAGGCCC
TCAGCGTCGGGACAGCAGGTCTCCCCTGTCCCCGCGGACAAGACTCATTATTGAAAACAAAGAT
GGGCCAACACAAAAATATCTGCTAGTCTTTGGGGTGTTGCTCTCCGTCTTTATCCAAGAAATGT
TCCGGTTTGCATATTATAGACTTCTAAAGAAAGCCAGTGAGGGTTTGAAGACCATAAATCCAGA
TGAGGCAGCACCCTCTATGCAATTGCTGGCCTATGTTTCTGGCTTGGGCTTTGGAATCATGAGT
GGAGTGTTTTCCTTTGTGAATACCTTGTCTAACTCCTTGGGGCCAGGGACGGTGGGCATCCATG
GAGATTCCCCTCAGTTCTTCCTCAACTCAGCTTTCATGACGCTGGTGATCATTTTGCTGCACGT
GTTCTGGGGGATTGTATTTTTTGATGCCTGTGAGAAGAAGAAGTGGTACGTCCTCCTCATCGTT
CTCCTAACGCATCTGCTGGTGTCTGCCCAGGTGAGCATTGGTGCTGTGCGCACACTGAGTTTTG
GAACTCAAGTCTGTGTCTGAAATGGTATCTTCCACTCCAAATGGAGCACGTGGAGGGTCAGGAA
AGGGGTAA

hide sequence

Protein Sequences


Protein RefSeqs	XP_005393848	(Get FASTA)	NCBI Sequence Viewer
	XP_013374436	(Get FASTA)	NCBI Sequence Viewer
	XP_013374437	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCLAP00000021740
	ENSCLAP00000021740.1

RefSeq Acc Id:	XP_005393848 ⟸ XM_005393791
- Peptide Label:	isoform X2
- UniProtKB:	A0A8C2W4C2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTAAVFFGCAFIAFGPALALYVFTIATEPLRIIFLIAGAFFWLVSLLISSLFWFLARLIIENKD GPTQKYLLVFGVLLSVFIQEMFRFAYYRLLKKASEGLKTINPDEAAPSMQLLAYVSGLGFGIMS GVFSFVNTLSNSLGPGTVGIHGDSPQFFLNSAFMTLVIILLHVFWGIVFFDACEKKKWYVLLIV LLTHLLVSAQVSIGAVRTLSFGTQVCV hide sequence

RefSeq Acc Id:

XP_013374437 ⟸ XM_013518983

- Peptide Label:

isoform X3

- Sequence:

show sequence

MSSGWRSSPGRPSRFCRWRPSLPRSRGACSLQAGGPQRRDSRSPLSPRTRLIIENKDGPTQKYL
LVFGVLLSVFIQEMFRFAYYRLLKKASEGLKTINPDEAAPSMQLLAYVSGLGFGIMSGVFSFVN
TLSNSLGPGTVGIHGDSPQFFLNSAFMTLVIILLHVFWGIVFFDACEKKKWYVLLIVLLTHLLV
SAQVSIGAVRTLSFGTQVCV

hide sequence

RefSeq Acc Id:

XP_013374436 ⟸ XM_013518982

- Peptide Label:

isoform X1

- Sequence:

show sequence

MSSGWRSSPGRPSRFCRWRPSLPRSRGACSLQAGGPQRRDSRAFFWLVSLLISSLFWFLARLII
ENKDGPTQKYLLVFGVLLSVFIQEMFRFAYYRLLKKASEGLKTINPDEAAPSMQLLAYVSGLGF
GIMSGVFSFVNTLSNSLGPGTVGIHGDSPQFFLNSAFMTLVIILLHVFWGIVFFDACEKKKWYV
LLIVLLTHLLVSAQVSIGAVRTLSFGTQVCV

hide sequence

RefSeq Acc Id:

ENSCLAP00000021740 ⟸ ENSCLAT00000021943

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSCLAG00000014885	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSCLAT00000021943	ENTREZGENE
	ENSCLAT00000021943.1	UniProtKB/TrEMBL
InterPro	Aph-1	UniProtKB/TrEMBL
NCBI Gene	Aph1b	ENTREZGENE
PANTHER	GAMMA-SECRETASE SUBUNIT APH-1B	UniProtKB/TrEMBL
	PTHR12889	UniProtKB/TrEMBL
Pfam	Aph-1	UniProtKB/TrEMBL
UniProt	A0A8C2W4C2	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-08-03	Aph1b	aph-1 homolog B, gamma-secretase subunit		APH1B gamma secretase subunit	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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

RGD Manual Annotations

Imported Annotations - PID (archival)

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

RGD Manual Annotations

Imported Annotations - PID (archival)