Krt9 (keratin 9) - Rat Genome Database

Name: Krt9
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: Krt9 (keratin 9) Rattus norvegicus

Analyze

Symbol:

Krt9

Name:

keratin 9

RGD ID:

628785

Description:

Predicted to enable structural molecule activity. Involved in spermatogenesis. Located in keratin filament and perinuclear region of cytoplasm. Orthologous to human KRT9 (keratin 9); INTERACTS WITH ammonium chloride; bisphenol A; cadmium dichloride.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

CK-9; cytokeratin-9; K9; keratin 9 (epidermolytic palmoplantar keratoderma); keratin 9, type I; keratin complex 1, acidic, gene 9; keratin, type I cytoskeletal 9; keratin-9; Krt1-9; spermatid perinuclear ring manchette protein K9

RGD Orthologs

Alliance Genes

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):	KRT9 (keratin 9)	HGNC	Ensembl, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Mus musculus (house mouse):	Krt9 (keratin 9)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Chinchilla lanigera (long-tailed chinchilla):	Krt9 (keratin 9)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Pan paniscus (bonobo/pygmy chimpanzee):	KRT9 (keratin 9)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Canis lupus familiaris (dog):	KRT9 (keratin 9)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Krt9 (keratin 9)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Chlorocebus sabaeus (green monkey):	KRT9 (keratin 9)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Other homologs ²
Homo sapiens (human):	OR5H15 (olfactory receptor family 5 subfamily H member 15)	HGNC	OMA
Homo sapiens (human):	OR5H8 (olfactory receptor family 5 subfamily H member 8 (gene/pseudogene))	HGNC	OMA
Homo sapiens (human):	OR5H14 (olfactory receptor family 5 subfamily H member 14)	HGNC	OMA
Homo sapiens (human):	OR5H1 (olfactory receptor family 5 subfamily H member 1)	HGNC	OMA
Alliance orthologs ³
Homo sapiens (human):	KRT9 (keratin 9)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Krt9 (keratin 9)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	krt99 (keratin 99)	Alliance	DIOPT (OrthoFinder\|PANTHER)
Danio rerio (zebrafish):	krt98	Alliance	DIOPT (OrthoFinder\|PANTHER)

Latest Assembly:

mRatBN7.2 - mRatBN7.2 Assembly

Position:

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	85,621,360 - 85,627,626 (-)	NCBI		GRCr8
mRatBN7.2	10	85,120,962 - 85,127,228 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	85,122,424 - 85,127,228 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	90,139,178 - 90,145,464 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	89,637,325 - 89,643,589 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	85,029,265 - 85,035,527 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	88,102,519 - 88,107,232 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	88,102,519 - 88,107,232 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	87,895,194 - 87,899,956 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	89,111,494 - 89,133,655 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	89,142,531 - 89,148,025 (-)	NCBI
Celera	10	83,841,984 - 83,846,587 (-)	NCBI		Celera
Cytogenetic Map	10	q31	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Diffuse Palmoplantar Keratoderma (ISO)

epidermolytic palmoplantar keratoderma (ISO)

Epidermolytic Palmoplantar Keratoderma 1 (ISO)

genetic disease (ISO)

Palmoplantar Keratoderma, Vorner Type (ISO)

palmoplantar keratosis (ISO)

prostate cancer (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

17beta-estradiol (ISO)

aflatoxin B1 (ISO)

ammonium chloride (EXP)

benzo[a]pyrene (ISO)

bis(2-chloroethyl) sulfide (ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

cadmium atom (ISO)

cadmium dichloride (EXP)

copper atom (ISO)

copper(0) (ISO)

doxorubicin (ISO)

enzyme inhibitor (ISO)

ivermectin (ISO)

lead(0) (ISO)

nickel atom (ISO)

ozone (ISO)

phenyl isocyanate (ISO)

silicon dioxide (ISO)

sodium dodecyl sulfate (ISO)

testosterone (ISO)

trichloroethene (EXP)

triptonide (ISO)

valproic acid (ISO)

zinc atom (ISO)

zinc(0) (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

epithelial cell differentiation (IBA,IEA)

intermediate filament organization (IBA,IEA,ISO,ISS)

skin development (IEA,ISO,ISS)

spermatogenesis (IDA,ISO)

Cellular Component

cytoskeleton (IBA)

keratin filament (IBA,IDA,IEA)

perinuclear region of cytoplasm (IDA)

Molecular Function

structural constituent of cytoskeleton (NAS)

structural molecule activity (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.	Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
2.	Rat ISS GO annotations from GOA human gene data--August 2006	GOA data from the GO Consortium
3.	Keratin 9 is a component of the perinuclear ring of the manchette of rat spermatids.	Mochida K, etal., Dev Biol 2000 Nov 15;227(2):510-9.
4.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
5.	Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).	Reis A, etal., Nat Genet. 1994 Feb;6(2):174-9.
6.	GOA pipeline	RGD automated data pipeline
7.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
9.	Comprehensive gene review and curation	RGD comprehensive gene curation

Additional References at PubMed

PMID:7507869	PMID:10218578	PMID:11487543	PMID:16015579	PMID:19199708	PMID:19946888	PMID:21630459	PMID:22664934	PMID:23376485	PMID:23533145	PMID:23580065

Genomics

Comparative Map Data

Krt9
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	85,621,360 - 85,627,626 (-)	NCBI		GRCr8
mRatBN7.2	10	85,120,962 - 85,127,228 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	85,122,424 - 85,127,228 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	90,139,178 - 90,145,464 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	89,637,325 - 89,643,589 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	85,029,265 - 85,035,527 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	88,102,519 - 88,107,232 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	88,102,519 - 88,107,232 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	87,895,194 - 87,899,956 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	89,111,494 - 89,133,655 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	89,142,531 - 89,148,025 (-)	NCBI
Celera	10	83,841,984 - 83,846,587 (-)	NCBI		Celera
Cytogenetic Map	10	q31	NCBI

KRT9
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	41,565,836 - 41,572,059 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	41,565,836 - 41,572,059 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	39,722,088 - 39,728,311 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	36,975,622 - 36,981,836 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	36,975,621 - 36,981,836	NCBI
Celera	17	36,375,050 - 36,381,264 (-)	NCBI		Celera
Cytogenetic Map	17	q21.2	NCBI
HuRef	17	35,485,212 - 35,491,427 (-)	NCBI		HuRef
CHM1_1	17	39,957,400 - 39,963,617 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	42,421,421 - 42,427,646 (-)	NCBI		T2T-CHM13v2.0

Krt9
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	100,077,607 - 100,084,072 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	100,077,607 - 100,084,072 (-)	Ensembl		GRCm39 Ensembl
GRCm38	11	100,186,781 - 100,193,246 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	100,186,781 - 100,193,246 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	100,048,095 - 100,054,560 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	100,002,871 - 100,009,336 (-)	NCBI		MGSCv36	mm8
Celera	11	110,803,228 - 110,809,694 (-)	NCBI		Celera
Cytogenetic Map	11	D	NCBI
cM Map	11	63.43	NCBI

Krt9
(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_004955451	15,890,343 - 15,896,282 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955451	15,890,101 - 15,896,282 (-)	NCBI	ChiLan1.0	ChiLan1.0

KRT9
(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	19	23,412,919 - 23,419,349 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	25,303,052 - 25,309,482 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	15,744,879 - 15,751,055 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	15,963,459 - 15,967,870 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	15,963,459 - 15,967,939 (+)	Ensembl	panpan1.1		panPan2

KRT9
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	21,204,213 - 21,210,793 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	21,203,618 - 21,209,421 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	20,665,652 - 20,672,542 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	21,924,803 - 21,931,693 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	21,924,803 - 21,930,341 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	20,710,820 - 20,717,710 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	20,976,833 - 20,983,723 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	21,080,626 - 21,087,518 (+)	NCBI		UU_Cfam_GSD_1.0

Krt9
(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_024405602	20,593,342 - 20,597,148 (+)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936490	16,477,991 - 16,481,797 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

KRT9
(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	16	64,669,805 - 64,677,091 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	64,670,844 - 64,677,001 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666077	35,515,646 - 35,521,802 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in Krt9
34 total Variants

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	43
Count of miRNA genes:	35
Interacting mature miRNAs:	43
Transcripts:	ENSRNOT00000019330
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (mRatBN7.2)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
2312662	Slep8	Serum leptin concentration QTL 8		0.05	blood leptin amount (VT:0005667)	serum leptin level (CMO:0000780)	10	57134272	102134272	Rat
2312668	Scl65	Serum cholesterol level QTL 65		0.001	blood cholesterol amount (VT:0000180)	serum total cholesterol level (CMO:0000363)	10	57134272	102134272	Rat
2312672	Insul15	Insulin level QTL 15		0.01	blood insulin amount (VT:0001560)	serum insulin level (CMO:0000358)	10	57134272	102134272	Rat
2306970	Anxrr22	Anxiety related response QTL 22	5.95		fear/anxiety-related behavior trait (VT:1000241)	number of periods of voluntary immobility (CMO:0001045)	10	61345276	98211570	Rat
2316949	Gluco60	Glucose level QTL 60	3.7		blood glucose amount (VT:0000188)	blood glucose level (CMO:0000046)	10	14487011	107057807	Rat
2317029	Aia19	Adjuvant induced arthritis QTL 19	2.98		joint integrity trait (VT:0010548)	left rear ankle joint diameter (CMO:0002149)	10	66978955	107211142	Rat
2317039	Aia6	Adjuvant induced arthritis QTL 6	4.31		joint integrity trait (VT:0010548)	right rear ankle joint diameter (CMO:0002150)	10	66978955	107211142	Rat
1298069	Bp168	Blood pressure QTL 168	5.5		blood pressure trait (VT:0000183)	systolic blood pressure (CMO:0000004)	10	26521957	98003205	Rat
1298078	Stresp5	Stress response QTL 5	2.99	0.00025	blood corticosterone amount (VT:0005345)	plasma corticosterone level (CMO:0001173)	10	42045676	104670812	Rat
2317754	Glom25	Glomerulus QTL 25	3.5		urine protein amount (VT:0005160)	urine protein level (CMO:0000591)	10	82685200	107211142	Rat
4889948	Bss91	Bone structure and strength QTL 91	4		tibia area (VT:1000281)	tibia midshaft total cross-sectional area (CMO:0001715)	10	82564856	92369470	Rat
6893336	Cm75	Cardiac mass QTL 75	0.1	0.87	heart mass (VT:0007028)	heart weight to body weight ratio (CMO:0000074)	10	61345276	99703528	Rat
6893357	Bw102	Body weight QTL 102	0.5	0.36	body mass (VT:0001259)	body weight (CMO:0000012)	10	80515287	101325465	Rat
6893366	Bw106	Body weight QTL 106	0.3	0.47	body mass (VT:0001259)	body weight (CMO:0000012)	10	70199100	107211142	Rat
631269	Cia22	Collagen induced arthritis QTL 22	8.9		joint integrity trait (VT:0010548)	joint inflammation composite score (CMO:0000919)	10	40035094	104060283	Rat
631270	Cia23	Collagen induced arthritis QTL 23	3.9		joint integrity trait (VT:0010548)	joint inflammation composite score (CMO:0000919)	10	40035094	104060283	Rat
631530	Tls3	T-lymphoma susceptibility QTL 3	0	0.0001	thymus integrity trait (VT:0010555)	percentage of study population developing T-cell lymphomas during a period of time (CMO:0001911)	10	51774612	95600334	Rat
631537	Oia4	Oil induced arthritis QTL 4			joint integrity trait (VT:0010548)	joint inflammation composite score (CMO:0000919)	10	75631887	87055282	Rat
631542	Bp82	Blood pressure QTL 82	6.8		arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	10	26521957	98952741	Rat
631547	Bp87	Blood pressure QTL 87	4.5		arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	10	47369470	92369470	Rat
631552	Vetf2	Vascular elastic tissue fragility QTL 2	4.5	0.0002	aorta elastic tissue integrity trait (VT:0010556)	artery internal elastic lamina non-tumorous lesion count (CMO:0001913)	10	41142633	86142633	Rat
631555	Bp134	Blood pressure QTL 134		0.001	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	10	80515287	91230079	Rat
9589030	Epfw9	Epididymal fat weight QTL 9	19.24	0.001	epididymal fat pad mass (VT:0010421)	epididymal fat pad weight to body weight ratio (CMO:0000658)	10	44441699	89441699	Rat
7411614	Foco18	Food consumption QTL 18		0.001	eating behavior trait (VT:0001431)	feed conversion ratio (CMO:0001312)	10	44441699	89441699	Rat
8694173	Bw149	Body weight QTL 149	4.38	0.001	body mass (VT:0001259)	body weight gain (CMO:0000420)	10	44441699	89441699	Rat
634354	Rends3	Renal damage susceptibility QTL 3		0.05	kidney blood vessel morphology trait (VT:0000530)	organ lesion measurement (CMO:0000677)	10	79813789	85160854	Rat
1300107	Rf18	Renal function QTL 18	3.41		urine output (VT:0003620)	timed urine volume (CMO:0000260)	10	78775516	98279596	Rat
1302404	Cia27	Collagen induced arthritis QTL 27	2.6	0.0045	joint integrity trait (VT:0010548)	experimental arthritis severity measurement (CMO:0001459)	10	76452683	107211142	Rat
1354608	Cm33	Cardiac mass QTL 33	2.8		heart left ventricle mass (VT:0007031)	heart left ventricle wet weight (CMO:0000071)	10	54809292	99809292	Rat
1359017	Hrtrt21	Heart rate QTL 21	2.4		heart pumping trait (VT:2000009)	heart rate (CMO:0000002)	10	51772940	96772940	Rat
1558643	Cm44	Cardiac mass QTL 44	4.8	0.0000368	heart mass (VT:0007028)	heart wet weight (CMO:0000069)	10	61345276	99703528	Rat
1549846	Scl47	Serum cholesterol level QTL 47	3.6		blood cholesterol amount (VT:0000180)	serum total cholesterol level (CMO:0000363)	10	50574707	95574707	Rat
1554317	Bmd4	Bone mineral density QTL 4	9.4	0.0001	lumbar vertebra mineral mass (VT:0010511)	volumetric bone mineral density (CMO:0001553)	10	19816042	99406971	Rat
1358188	Ept9	Estrogen-induced pituitary tumorigenesis QTL 9	3.9		pituitary gland mass (VT:0010496)	pituitary gland wet weight (CMO:0000853)	10	73453136	96120911	Rat
1358915	Stresp7	Stress response QTL 7	3.52		blood norepinephrine amount (VT:0005663)	plasma norepinephrine level (CMO:0001010)	10	78899655	87307728	Rat
1549831	Bss6	Bone structure and strength QTL 6	4		lumbar vertebra strength trait (VT:0010574)	vertebra ultimate force (CMO:0001678)	10	57576521	102576521	Rat
1579919	Bp281	Blood pressure QTL 281		0.01	arterial blood pressure trait (VT:2000000)	mean arterial blood pressure (CMO:0000009)	10	74372084	94965338	Rat
1576308	Schws1	Schwannoma susceptibility QTL 1		0.0041	nervous system integrity trait (VT:0010566)	percentage of study population developing trigeminal nerve neurilemmomas during a period of time (CMO:0002017)	10	40035094	102359817	Rat
61354	Pia10	Pristane induced arthritis QTL 10		0.01	joint integrity trait (VT:0010548)	joint inflammation composite score (CMO:0000919)	10	23444813	104060283	Rat
61396	Bp9	Blood pressure QTL 9	4.8	0.0001	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	10	68420376	107211142	Rat
61427	Cia16	Collagen induced arthritis QTL 16	3.2		joint integrity trait (VT:0010548)	joint inflammation composite score (CMO:0000919)	10	6357896	96121100	Rat
2292438	Bp311	Blood pressure QTL 311			arterial blood pressure trait (VT:2000000)	mean arterial blood pressure (CMO:0000009)	10	76246085	107211142	Rat
2292617	Ept18	Estrogen-induced pituitary tumorigenesis QTL 18	3.9		pituitary gland mass (VT:0010496)	pituitary gland wet weight (CMO:0000853)	10	73453136	96120911	Rat
631267	Cia20	Collagen induced arthritis QTL 20	3.2		joint integrity trait (VT:0010548)	joint inflammation composite score (CMO:0000919)	10	23444813	104060283	Rat
631268	Cia21	Collagen induced arthritis QTL 21	3.1		joint integrity trait (VT:0010548)	joint inflammation composite score (CMO:0000919)	10	14487011	104060283	Rat
61449	Ciaa2	CIA Autoantibody QTL 2	7.1		blood autoantibody amount (VT:0003725)	calculated serum anti-type 2 collagen antibody titer (CMO:0001279)	10	63221094	107211142	Rat
61463	Bp12	Blood pressure QTL 12	6.3	0.0001	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	10	41333258	86333258	Rat
70164	Bw21	Body weight QTL 21	4.36	0.00005	body mass (VT:0001259)	body weight (CMO:0000012)	10	53797494	98952626	Rat
70171	Cari1	Carrageenan-induced inflammation QTL 1	4.9	0.0005	hypodermis integrity trait (VT:0010550)	inflammatory exudate volume (CMO:0001429)	10	53797385	107211142	Rat
61325	Aia5	Adjuvant induced arthritis QTL 5		0.01	joint integrity trait (VT:0010548)	joint inflammation composite score (CMO:0000919)	10	23444813	104060283	Rat
724516	Uae17	Urinary albumin excretion QTL 17	3.6		urine albumin amount (VT:0002871)	urine albumin excretion rate (CMO:0000757)	10	78210622	85220348	Rat
2298548	Neuinf7	Neuroinflammation QTL 7	3.4		nervous system integrity trait (VT:0010566)	spinal cord RT1-B protein level (CMO:0002132)	10	72224939	107211142	Rat
2300218	Hpcl2	Hepatic cholesterol level QTL 2			liver cholesterol amount (VT:0010498)	liver cholesterol level (CMO:0001597)	10	45029650	95600334	Rat
2301967	Cm73	Cardiac mass QTL 73	4.55		heart left ventricle mass (VT:0007031)	heart left ventricle weight to body weight ratio (CMO:0000530)	10	14487011	89062041	Rat
2306792	Ean4	Experimental allergic neuritis QTL 4	4		nervous system integrity trait (VT:0010566)	IFNG-secreting splenocyte count (CMO:0002122)	10	84022321	93995963	Rat
2306793	Ean5	Experimental allergic neuritis QTL 5	4.7		nervous system integrity trait (VT:0010566)	IFNG-secreting splenocyte count (CMO:0002122)	10	72552416	93995749	Rat
2313105	Bss79	Bone structure and strength QTL 79	1.8	0.0001	tibia size trait (VT:0100001)	tibia midshaft cross-sectional area (CMO:0001717)	10	62057807	107057807	Rat
1642980	Bp300	Blood pressure QTL 300			arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	10	68383129	107211142	Rat
1331791	Cm31	Cardiac mass QTL 31	3.84606		heart mass (VT:0007028)	heart wet weight (CMO:0000069)	10	29299504	107211142	Rat
1357344	Bp249	Blood pressure QTL 249		0.0001	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	10	66743655	98003205	Rat
70193	Mcs7	Mammary carcinoma susceptibility QTL 7	2.38		mammary gland integrity trait (VT:0010552)	mammary tumor number (CMO:0000343)	10	72224939	107211142	Rat
4889492	Pancm2	Pancreatic morphology QTL 2	3.2		pancreatic beta cell morphology trait (VT:0005217)	ratio of insulin-positive cell area to total area of splenic region of pancreas (CMO:0001814)	10	76748906	107211142	Rat
2301398	Kidm38	Kidney mass QTL 38		0.002	kidney mass (VT:0002707)	both kidneys wet weight to body weight ratio (CMO:0000340)	10	84007272	95933025	Rat
2303589	Bw87	Body weight QTL 87	2		body mass (VT:0001259)	body weight (CMO:0000012)	10	81285008	107211142	Rat
10450498	Bp384	Blood pressure QTL 384		0.002	arterial blood pressure trait (VT:2000000)	mean arterial blood pressure (CMO:0000009)	10	67750049	107211142	Rat
2300172	Bmd57	Bone mineral density QTL 57	9.8	0.0001	femur mineral mass (VT:0010011)	volumetric bone mineral density (CMO:0001553)	10	69738412	107211142	Rat
2303118	Mamtr7	Mammary tumor resistance QTL 7		0.003	mammary gland integrity trait (VT:0010552)	mammary tumor growth rate (CMO:0000344)	10	9658275	104670812	Rat
2293646	Bss25	Bone structure and strength QTL 25	10.96	0.0001	femur morphology trait (VT:0000559)	femur cross-sectional area (CMO:0001661)	10	69738412	107211142	Rat
2293663	Bss33	Bone structure and strength QTL 33	9.34	0.0001	femur strength trait (VT:0010010)	femur midshaft polar moment of inertia (CMO:0001669)	10	69738412	107211142	Rat
70188	BpQTLcluster1	Blood pressure QTL cluster 1	4.864		arterial blood pressure trait (VT:2000000)	diastolic blood pressure (CMO:0000005)	1	42323132	87323132	Rat
70188	BpQTLcluster1	Blood pressure QTL cluster 1	4.864		arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	1	42323132	87323132	Rat
70188	BpQTLcluster1	Blood pressure QTL cluster 1	4.864		arterial blood pressure trait (VT:2000000)	mean arterial blood pressure (CMO:0000009)	1	42323132	87323132	Rat
70188	BpQTLcluster1	Blood pressure QTL cluster 1	4.864		arterial blood pressure trait (VT:2000000)	pulse pressure (CMO:0000292)	1	42323132	87323132	Rat
10450495	Bp383	Blood pressure QTL 383		0.002	arterial blood pressure trait (VT:2000000)	mean arterial blood pressure (CMO:0000009)	10	76246085	94965338	Rat
61387	Bp1	Blood pressure QTL 1	5.1		arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	10	51770177	107211142	Rat
61387	Bp1	Blood pressure QTL 1	5.1		arterial blood pressure trait (VT:2000000)	diastolic blood pressure (CMO:0000005)	10	51770177	107211142	Rat
631535	Cm51	Cardiac mass QTL 51	3		heart mass (VT:0007028)	calculated heart weight (CMO:0000073)	10	51786282	91669536	Rat
70364	Bp72	Blood pressure QTL 72			arterial blood pressure trait (VT:2000000)	mean arterial blood pressure (CMO:0000009)	10	51121100	96121100	Rat
12880055	Am11	Aortic mass QTL 11		0.004	aorta mass (VT:0002845)	aorta weight to aorta length to body weight ratio (CMO:0002722)	10	84007272	95933025	Rat
2293698	Bss43	Bone structure and strength QTL 43	5.33	0.0001	lumbar vertebra size trait (VT:0010518)	lumbar vertebra cross-sectional area (CMO:0001689)	10	59209888	104209888	Rat
2313103	Bss80	Bone structure and strength QTL 80	2	0.0001	tibia strength trait (VT:1000284)	tibia midshaft endosteal cross-sectional area (CMO:0001716)	10	62057807	107057807	Rat
724556	Pur2	Proteinuria QTL 2	5.5		urine protein amount (VT:0005160)	urine protein level (CMO:0000591)	10	22427500	90627625	Rat
70198	BpQTLcluster9	Blood pressure QTL cluster 9	2.94		arterial blood pressure trait (VT:2000000)	mean arterial blood pressure (CMO:0000009)	10	42323132	87323132	Rat

Markers in Region

BI294088

Rat Assembly	Chr	Position (strand)	Source	JBrowse
mRatBN7.2	10	85,110,856 - 85,110,966 (+)	MAPPER	mRatBN7.2
Rnor_6.0	10	88,090,865 - 88,090,974	NCBI	Rnor6.0
Rnor_5.0	10	87,883,540 - 87,883,649	UniSTS	Rnor5.0
RGSC_v3.4	10	89,116,502 - 89,116,611	UniSTS	RGSC3.4
Celera	10	83,830,331 - 83,830,440	UniSTS
RH 3.4 Map	10	859.3	UniSTS
Cytogenetic Map	10	q32.1	UniSTS

AU049096

Rat Assembly	Chr	Position (strand)	Source	JBrowse
mRatBN7.2	10	85,116,089 - 85,117,213 (+)	MAPPER	mRatBN7.2
Rnor_6.0	10	88,096,096 - 88,097,217	NCBI	Rnor6.0
Rnor_5.0	10	87,888,771 - 87,889,892	UniSTS	Rnor5.0
RGSC_v3.4	17	69,029,828 - 69,030,313	UniSTS	RGSC3.4
RGSC_v3.4	10	89,121,733 - 89,122,854	UniSTS	RGSC3.4
Celera	17	62,083,834 - 62,084,319	UniSTS
Celera	10	83,835,564 - 83,836,678	UniSTS
Cytogenetic Map	17	q12.1	UniSTS
Cytogenetic Map	10	q32.1	UniSTS

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

	circulatory system	endocrine system	exocrine system	hemolymphoid system	hepatobiliary system	nervous system	reproductive system
High
Medium
Low		4	4		4	2	6
Below cutoff	8	5	3	2	3	16	10

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_153476	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC096895	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY128946	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JAXUCZ010000010	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSRNOT00000019330 ⟹ ENSRNOP00000019330

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
mRatBN7.2 Ensembl	10	85,122,424 - 85,127,228 (-)	Ensembl
Rnor_6.0 Ensembl	10	88,102,519 - 88,107,232 (-)	Ensembl

RefSeq Acc Id:

ENSRNOT00000076770 ⟹ ENSRNOP00000067946

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
Rnor_6.0 Ensembl	10	88,103,036 - 88,107,232 (-)	Ensembl

RefSeq Acc Id:

NM_153476 ⟹ NP_703206

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Rat Assembly	Chr	Position (strand)	Source
GRCr8	10	85,621,360 - 85,627,626 (-)	NCBI
mRatBN7.2	10	85,120,962 - 85,127,228 (-)	NCBI
Rnor_6.0	10	88,102,519 - 88,107,232 (-)	NCBI
Rnor_5.0	10	87,895,194 - 87,899,956 (-)	NCBI
RGSC_v3.4	10	89,111,494 - 89,133,655 (-)	RGD
Celera	10	83,841,984 - 83,846,587 (-)	NCBI

Sequence:

show sequence

GAGACCGCTTCCTGCCTACAGACTCCGGCAGGCAGCACCATGAGTTTCAGACAGATCTCCTCAT
CTTTCCGGAGCAGCAGCGGCAGCAGCTGTGGAGGAGGAGGAGGCAGAGGGGCCAGCAGAGGCAG
CATGCGGTCTTCTTTCGGTCGCTCCTCCAGGGCTGGTGGAGAGAGCCGCTTTGGCTCTTCCAGT
GGTTTTGGTGGAGGTGGCTTTTCAGCCTGTGGCACTGGAGGTGGTGGCAGTTTTGGCTCTAGCT
ATGGTGGAGGATATGGAAGGGGTTTTAGCGCAGGTAGTTCCAGCGGTATGTTTGGTGGAAGTTC
TAGAGGTTGCTTTGGTGGAGGTTCTGGAGGTGGCTTTGGTGGAGGTTCTGGAGGTGGCTTTGGT
GGGGGTTTTGGAGGTGGCTTTGGTGGTGGCTCTGGAGGTGGCGAAGGTAGTATTCTGAACACCA
ATGAGAAAGTCGTCATGCAGAACCTCAATTCCCGTCTGGCCTCTTACATGGATAAAGTGCAGGA
ACTGGAGGAGGACAACGCCAACCTGGAGAAGCAGATCCAGGAATGGTATTCAAGGAAGGGGAAC
AGAGTCTTCCAGAAGGACTACTCTCATTATTATAACACTATCGAAGACCTGAAGGACAGAATTG
TGGATCTCACAGCGAGGAACAACAAAGCACTCATAGACATGGACAATACTCGCATGACTCTGGG
TGACTTCAGGGTTAAGCTTGAGATGGAGCAGAGCCTACCCCAAGGGGTGGATGCTGATATTAAT
GGCCTGCAGAAGGTTTTGGATGACATAAATATGGAGAAATCTGATCTGGAGATACAGTTTGATA
GTCTGGACGATGAGCTGAAGGCCCTTAAGAAGAGCCACAAGGAGGAGATGAACCAGCTGACGGG
CCTGAATGATGGAGATGTTAATGTGGAGATAAATGTTGCTCCTAGCACAGACCTCACCCAGGTC
CTCAATGACATGCGTGAGGAATATGAACACCTCATTTCTAAGAACCGCCAGGACATTGAGCAAC
ACTATGAGTCCCAGATGACCCAGATTGAGCACCAGTTGACAAATAGTGGCCCAGAGATGGAGAC
CAACATGAAGCAAGTTTCCCAGCTCCAGCACAGTGTCCAGGAGTTGAACATTGAGCTGCAGACT
CAGCTTACCACGAAATCAGCCCTGGAGAAGGCTTTGGAAGACACAAAGAACCGCTACTGTGGCC
AGCTGCAGCAGATTCGGGAACAGATCAGTGAGATGGAGGCCCAGCTTGCTCAGGTCCGGGCAGA
AACTGAGTGCCAGAACCAGGAATATGGCCTTCTGCTCAGCATCAAGACACGGCTGGAGAAAGAA
ATTGAGACTTACCGAAAGCTCCTTGAAGGCGGCCAGCAAGACTTTGAATCTTCTGGAGCTGGAC
AAATTGGCTTTGGAAGTGGCAAAGGAGGACAAAGAGGAAGTGGCGGCAGCTATGGAGGAGGAAG
TGGGGACAGCTATGAAGGAGAAAGTGGGGGCAGCTATGGAGGAGGAAGTGGGGGCAGCCACGGT
GGAAAAAGTGGAGGTAGTTATGGAGGAGGAAGCAGCTCTGGGGGAGGAAGTGGAGGCAGCTATG
GAGGAGGAAGTGGGGGCAGCCATGGTGGAAAAAGTGGGGGTAGCCATGGAGGAGGAAGTGGGGG
CAGCTATGGTGGAGGAAGTGGTTCTGGAGGAGAAAGTGGAGGCAGCTATGGAGGAGGAAGTGGA
GGCAGCCACGGTGGACAAAAAGGAGGAAGTGGGGGCAGCTATGAAGGAGGAAGTGGAGGGAGCT
ATGGAGGAGGAAGTGGTTCTGGAGGAGGAAGTGGGGGTAGCTACGGTGGAGGAAATACAAGGCC
ATCTCAGTCCCAGTCCTCACAAATCCCCCGACTGCGATGACCCATGATTCTGACAGGCCCACCC
ACCTGCGCACCT

hide sequence

Protein Sequences


Protein RefSeqs	NP_703206	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAN05455	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSRNOP00000019330
	ENSRNOP00000019330.4
GenBank Protein	Q8CIS9	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_703206 ⟸ NM_153476

- Sequence:

show sequence

MSFRQISSSFRSSSGSSCGGGGGRGASRGSMRSSFGRSSRAGGESRFGSSSGFGGGGFSACGTG
GGGSFGSSYGGGYGRGFSAGSSSGMFGGSSRGCFGGGSGGGFGGGSGGGFGGGFGGGFGGGSGG
GEGSILNTNEKVVMQNLNSRLASYMDKVQELEEDNANLEKQIQEWYSRKGNRVFQKDYSHYYNT
IEDLKDRIVDLTARNNKALIDMDNTRMTLGDFRVKLEMEQSLPQGVDADINGLQKVLDDINMEK
SDLEIQFDSLDDELKALKKSHKEEMNQLTGLNDGDVNVEINVAPSTDLTQVLNDMREEYEHLIS
KNRQDIEQHYESQMTQIEHQLTNSGPEMETNMKQVSQLQHSVQELNIELQTQLTTKSALEKALE
DTKNRYCGQLQQIREQISEMEAQLAQVRAETECQNQEYGLLLSIKTRLEKEIETYRKLLEGGQQ
DFESSGAGQIGFGSGKGGQRGSGGSYGGGSGDSYEGESGGSYGGGSGGSHGGKSGGSYGGGSSS
GGGSGGSYGGGSGGSHGGKSGGSHGGGSGGSYGGGSGSGGESGGSYGGGSGGSHGGQKGGSGGS
YEGGSGGSYGGGSGSGGGSGGSYGGGNTRPSQSQSSQIPRLR

hide sequence

RefSeq Acc Id:

ENSRNOP00000019330 ⟸ ENSRNOT00000019330

RefSeq Acc Id:

ENSRNOP00000067946 ⟸ ENSRNOT00000076770

Protein Domains

IF rod

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8CIS9-F1-model_v2	AlphaFold	Q8CIS9	1-618	view protein structure

Transcriptome

eQTL		View at Phenogen
WGCNA		View at Phenogen
Tissue/Strain Expression		View at Phenogen

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	RGD:628785	AgrOrtholog
BioCyc Gene	G2FUF-23249	BioCyc
Ensembl Genes	ENSRNOG00000014370	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSRNOT00000019330	ENTREZGENE
	ENSRNOT00000019330.6	UniProtKB/TrEMBL
Gene3D-CATH	1.20.5.170	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Single helix bin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Vasodilator-stimulated phosphoprotein	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro	IF_conserved	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	IF_rod_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Keratin_I	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	rno:266717	UniProtKB/Swiss-Prot
NCBI Gene	266717	ENTREZGENE
PANTHER	KERATIN, TYPE I CYTOSKELETAL 9	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR23239	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Filament	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen	Krt9	PhenoGen
PRINTS	TYPE1KERATIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	IF_ROD_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	IF_ROD_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RatGTEx	ENSRNOG00000014370	RatGTEx
SMART	Filament	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	Intermediate filament protein, coiled coil region	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	F1M7K4_RAT	UniProtKB/TrEMBL
	K1C9_RAT	UniProtKB/Swiss-Prot, ENTREZGENE

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-03-16	Krt9	keratin 9	Krt9	keratin 9, type I	Nomenclature updated to reflect human and mouse nomenclature	1299863	APPROVED
2015-01-28	Krt9	keratin 9, type I	Krt9	keratin 9	Nomenclature updated to reflect human and mouse nomenclature	1299863	APPROVED
2008-02-25	Krt9	keratin 9	Krt1-9	keratin complex 1, acidic, gene 9	Nomenclature updated to reflect human and mouse nomenclature	1299863	APPROVED
2004-02-11	Krt1-9	keratin complex 1, acidic, gene 9	Krt9	keratin 9 (epidermolytic palmoplantar keratoderma)	Symbol and Name updated to reflect Human and Mouse nomenclature	625702	APPROVED
2003-02-27	Krt9	keratin 9 (epidermolytic palmoplantar keratoderma)			Symbol and Name status set to provisional	70820	PROVISIONAL

RGD Curation Notes

Note Type	Note	Reference
gene_protein	618 amino acids with an estimated molecular mass of 63,020 Da	633128

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

Send us a Message

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM