NOP53 (NOP53 ribosome biogenesis factor)

Gene: NOP53 (NOP53 ribosome biogenesis factor) Sus scrofa

Analyze

Symbol:

NOP53

Name:

NOP53 ribosome biogenesis factor (Ensembl:NOP53 ribosome biosis factor)

RGD ID:

14271410

Description:

ENCODES a protein that exhibits 5S rRNA binding (inferred); identical protein binding (inferred); p53 binding (inferred); INVOLVED IN ribosomal large subunit assembly (ortholog); ASSOCIATED WITH polycystic ovary syndrome (ortholog); FOUND IN rDNA heterochromatin (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

glioma tumor suppressor candidate region gene 2; GLTSCR2

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

Sscrofa11.1 - Pig Sscrofa11.1 Assembly

Position:

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	53,443,385 - 53,452,017 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	53,443,453 - 53,451,707 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	48,973,573 - 48,982,147 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

polycystic ovary syndrome (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cellular response to hypoxia (IEA)

DNA damage response (IEA)

DNA repair (IEA)

mitotic G2 DNA damage checkpoint signaling (IEA)

negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (IEA)

negative regulation of proteasomal ubiquitin-dependent protein catabolic process (IEA)

negative regulation of protein-containing complex assembly (IEA)

negative regulation of signal transduction by p53 class mediator (IEA)

negative regulation of transcription by RNA polymerase II (IEA)

negative regulation of transcription of nucleolar large rRNA by RNA polymerase I (IEA)

positive regulation of proteasomal ubiquitin-dependent protein catabolic process (IEA)

positive regulation of protein K63-linked deubiquitination (IEA)

protein localization to nucleolus (IEA)

protein localization to nucleoplasm (IEA)

protein stabilization (IEA)

regulation of aerobic respiration (IEA)

regulation of apoptotic process (IEA)

regulation of cell cycle (IEA)

regulation of protein phosphorylation (IEA)

regulation of RIG-I signaling pathway (IEA)

regulation of signal transduction by p53 class mediator (IEA)

ribosomal large subunit assembly (ISO)

ribosome biogenesis (IEA)

rRNA processing (IBA,IEA)

Cellular Component

cytosol (IEA)

fibrillar center (IEA)

intracellular membrane-bounded organelle (IEA)

nucleolus (IBA,IEA)

nucleoplasm (IEA)

nucleus (IEA)

rDNA heterochromatin (IEA,ISO)

Molecular Function

5S rRNA binding (IBA,IEA)

identical protein binding (IEA)

p53 binding (IEA)

protein binding (ISO)

References

Additional References at PubMed

PMID:14681463	PMID:17145712	PMID:30032202

Genomics

Comparative Map Data

NOP53
(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	53,443,385 - 53,452,017 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	53,443,453 - 53,451,707 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	48,973,573 - 48,982,147 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

NOP53
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	47,745,546 - 47,757,058 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	47,745,546 - 47,757,058 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	48,248,803 - 48,260,315 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	52,940,620 - 52,952,127 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	52,940,619 - 52,952,126	NCBI
Celera	19	45,054,495 - 45,066,024 (+)	NCBI		Celera
Cytogenetic Map	19	q13.33	NCBI
HuRef	19	44,675,424 - 44,686,829 (+)	NCBI		HuRef
CHM1_1	19	48,251,102 - 48,262,632 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	50,576,356 - 50,587,868 (+)	NCBI		T2T-CHM13v2.0

Nop53
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	15,671,760 - 15,680,033 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	15,670,108 - 15,679,999 (-)	Ensembl		GRCm39 Ensembl
GRCm38	7	15,937,835 - 15,946,108 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	15,936,183 - 15,946,074 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	16,523,184 - 16,531,457 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	15,096,357 - 15,104,578 (-)	NCBI		MGSCv36	mm8
Celera	7	13,136,540 - 13,144,813 (-)	NCBI		Celera
Cytogenetic Map	7	A2	NCBI
cM Map	7	8.64	NCBI

Nop53
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	85,757,271 - 85,765,089 (-)	NCBI		GRCr8
mRatBN7.2	1	76,629,084 - 76,636,902 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	76,629,069 - 76,636,902 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	82,004,061 - 82,011,895 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	90,568,120 - 90,575,954 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	83,759,201 - 83,767,035 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	77,836,522 - 77,843,991 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	77,836,196 - 77,844,189 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	79,101,202 - 79,108,671 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	76,281,104 - 76,288,571 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	76,359,212 - 76,366,682 (-)	NCBI
Celera	1	71,119,638 - 71,127,111 (-)	NCBI		Celera
Cytogenetic Map	1	q21	NCBI

Nop53
(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_004955574	1,506,022 - 1,517,130 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955574	1,505,997 - 1,514,680 (+)	NCBI	ChiLan1.0	ChiLan1.0

NOP53
(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	53,897,649 - 53,911,514 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	55,768,753 - 55,780,320 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	44,739,739 - 44,751,303 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	53,393,238 - 53,404,708 (+)	NCBI	panpan1.1	PanPan1.1	panPan2

NOP53
(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	108,307,039 - 108,315,732 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	108,307,042 - 108,316,495 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	107,789,230 - 107,797,912 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	108,833,077 - 108,841,767 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	108,829,885 - 108,842,457 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	108,501,211 - 108,509,476 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	108,145,336 - 108,154,020 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	109,013,492 - 109,022,181 (-)	NCBI		UU_Cfam_GSD_1.0

Nop53
(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	19,716,350 - 19,725,739 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936664	1,334,510 - 1,342,321 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936664	1,334,487 - 1,343,867 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NOP53
(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	41,058,199 - 41,070,220 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	41,057,906 - 41,071,202 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666073	20,811,521 - 20,823,571 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Nop53
(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	6,145,749 - 6,154,411 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624832	6,144,260 - 6,154,172 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in NOP53
135 total Variants

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

	alimentary part of gastrointestinal system	circulatory system	endocrine system	hemolymphoid system	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system
High
Medium	10	4	3	5	2	6	2	3	3
Low						17
Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_021094646	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AEMK02000041	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK232459	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK345797	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK351862	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK399375	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FP565353	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GFLN01116674	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSSSCT00000025029 ⟹ ENSSSCP00000028183

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1 Ensembl	6	53,443,480 - 53,452,017 (+)	Ensembl

RefSeq Acc Id:

ENSSSCT00000091841 ⟹ ENSSSCP00000078114

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1 Ensembl	6	53,443,385 - 53,452,017 (+)	Ensembl

RefSeq Acc Id:

ENSSSCT00000106912 ⟹ ENSSSCP00000078311

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1 Ensembl	6	53,443,480 - 53,452,017 (+)	Ensembl

RefSeq Acc Id:

XM_021094646 ⟹ XP_020950305

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1	6	53,443,453 - 53,451,707 (+)	NCBI

Sequence:

show sequence

TTCAGGGTGCTGGCGGCCAAGTGCTTCCTTTAACAAGATGGCGGCGGGAAGTAGTGCCGCTGGC
GGTGCGCGCTGCTCAAAAAGCGAGGCCGACTCTGGCTTCCTGGGGCTGCGGCCCACTTCGGTGG
ACCCAGCCTTGAGGCGGCGGCGGCGAGGCCCAAGAAATAAGAAGCGGGGGTGGCGGCGGCTCGC
TCAGGAGCCGCTGGGACTGGAGGTCGACCAGTTCCTGGAGGACGTGCGGCTGCAGGAGCGCACG
AGCGGTGGCTTGATATCAGAGGCCCCGGATGAAAAACTCTTCTTCGTGGACACTGGCTCCAAGA
ATAAAGAGCTGAACAGGAAGAGGACCAGAAGCCAGAAGAGGTCCCTGCTTCTCAAGAAACCCCT
TCGGATCGACCTCGTCCTAGAGAACACATCCAAGGTCCCTGCCCCCAAAGACGTCCTTGCCCAC
CAGGTCCCCAATGCCAAGAAGCTCCGGCGGAAGGAGCAGCTATGGGAGAAGCTGGCCAAGCAGG
GCGAGCTGCCCCGGGAGGTGCGCAGGGCGCAGGCCCGGCTCCTCAACCCTCCTGCGGCCAGAGC
CAAGCCTGGGCCCCAGGATGCCGCCGGGCGTCCCTTCTATGACCTCTGGGCCAAAGACAACCCG
CTGGATGGGCCCCTGGAAGGCCAGGACGCGTTCTTCCTGGAGCAGACCAAGAAGAAGGGGTGAA
GGTGGGTGGGACGGCCTCAGCATCTCCACACCAAGCCCTCCCAGGCGCCTGCTGTGGAGGTGAC
CCCCGCGGGAGCCTCCTACAACCCGTCCTTTGAGGACCACCAGACTCTGCTCCGTGCGGCCCAT
GAGGTAGAGCTGCAGCGGCAGAAAGAGGTGGAGAAGCTGGAGCGGCAGCTGGCCCTGCCCCCAG
CCGAGCAGGCCGCCACCCAGGAGTCCGCCTTCCAGGAGATGTGCCAGGGGCTGCTGGAGGAGTC
GGACGGGGAGGGGGAGCTGGCCGAGGGCCAGGACCGGGGGCTGGAGGCTGGAGGAGACCAGGCC
GAAGGAGCAGAGGCCTCGCCAGCCGTCCGCCTGGCCTCCTTGGAGAAGAAGACGGAGCAGCAGC
GGCGGCGGGAAAAGGCCGCCCGGATGCTGAGAGCACAGCAGGCCGCGGTGCGGGCCGCCCGGCT
CCGGCACCAGGAGCTCTTCAGGCTGCGTGGGATCAAGGCGCAGGTGGCACGGCGGCTGGCGGAG
TTGGCACGGCGCCGGGAGCGGCGGCAGGCGCAGAGGCTGGTGGAGGCCGACAAGCCCCGCCGGC
TGGGGCGGCTCAAGTATCAGGACCCCGACATTGACGTGCAGCTCAGCTCCGAGCTGTCTGACTC
GCTCCGGACCCTGAAGCCCGAGGGCAACATCCTCCGGGACCGGTTCAAGAGCTTCCAGCGGAGA
AACATGATCGAGCCTCGCGAGCGCGCCAAGTTCAAGCGCAAGTACAAAGTGAAGCTGGTGGAGA
AGCGGGCCTTCCGGGAGATCCAGTGA

hide sequence

Protein Sequences


Protein RefSeqs	XP_020950305	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSSSCP00000028183
	ENSSSCP00000028183.3
	ENSSSCP00000078114.1
	ENSSSCP00000078311.1
	ENSSSCP00015001272.1
	ENSSSCP00025008282.1
	ENSSSCP00045015717.1
	ENSSSCP00055040354.1
	ENSSSCP00065035755.1

RefSeq Acc Id:

XP_020950305 ⟸ XM_021094646

- UniProtKB:

A0A480VI14 (UniProtKB/TrEMBL), A0A8D0MC18 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MAAGSSAAGGARCSKSEADSGFLGLRPTSVDPALRRRRRGPRNKKRGWRRLAQEPLGLEVDQFL
EDVRLQERTSGGLISEAPDEKLFFVDTGSKNKELNRKRTRSQKRSLLLKKPLRIDLVLENTSKV
PAPKDVLAHQVPNAKKLRRKEQLWEKLAKQGELPREVRRAQARLLNPPAARAKPGPQDAAGRPF
YDLWAKDNPLDGPLEGQDAFFLEQTKKKGXRWVGRPQHLHTKPSQAPAVEVTPAGASYNPSFED
HQTLLRAAHEVELQRQKEVEKLERQLALPPAEQAATQESAFQEMCQGLLEESDGEGELAEGQDR
GLEAGGDQAEGAEASPAVRLASLEKKTEQQRRREKAARMLRAQQAAVRAARLRHQELFRLRGIK
AQVARRLAELARRRERRQAQRLVEADKPRRLGRLKYQDPDIDVQLSSELSDSLRTLKPEGNILR
DRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFREIQ

hide sequence

RefSeq Acc Id:

ENSSSCP00000028183 ⟸ ENSSSCT00000025029

RefSeq Acc Id:

ENSSSCP00000078114 ⟸ ENSSSCT00000091841

RefSeq Acc Id:

ENSSSCP00000078311 ⟸ ENSSSCT00000106912

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSSSCG00000022774	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
	ENSSSCG00015002934	UniProtKB/TrEMBL
	ENSSSCG00025015097	UniProtKB/TrEMBL
	ENSSSCG00045013343	UniProtKB/TrEMBL
	ENSSSCG00055025505	UniProtKB/TrEMBL
	ENSSSCG00065059947	UniProtKB/TrEMBL
Ensembl Transcript	ENSSSCT00000025029	ENTREZGENE
	ENSSSCT00000025029.4	UniProtKB/TrEMBL
	ENSSSCT00000091841.1	UniProtKB/TrEMBL
	ENSSSCT00000106912.1	UniProtKB/TrEMBL
	ENSSSCT00015003713.1	UniProtKB/TrEMBL
	ENSSSCT00025020231.1	UniProtKB/TrEMBL
	ENSSSCT00045022780.1	UniProtKB/TrEMBL
	ENSSSCT00055050474.1	UniProtKB/TrEMBL
	ENSSSCT00065082102.1	UniProtKB/TrEMBL
InterPro	Nop53/GLTSCR2	UniProtKB/TrEMBL
NCBI Gene	NOP53	ENTREZGENE
PANTHER	PTHR14211	UniProtKB/TrEMBL
	RIBOSOME BIOGENESIS PROTEIN NOP53	UniProtKB/TrEMBL
Pfam	Nop53	UniProtKB/TrEMBL
PIRSF	Gltscr2	UniProtKB/TrEMBL
UniProt	A0A480VI14	ENTREZGENE, UniProtKB/TrEMBL
	A0A8D0MC18	ENTREZGENE, UniProtKB/TrEMBL
	A0A8W4FFA9_PIG	UniProtKB/TrEMBL
	A0A8W4FHG1_PIG	UniProtKB/TrEMBL
	I3LVN1_PIG	UniProtKB/TrEMBL
VGNC ID	VGNC:90821	ENTREZGENE

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