MAMMALIAN PHENOTYPE - ANNOTATIONS
The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term: abnormal kidney morphology
Accession: MP:0002135
browse the term
Definition: any structural anomaly of either of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine
Synonyms: exact_synonym: Abnormal renal morphology
narrow_synonym: Reduced renal corticomedullary differentiation; Renal dysplasia; kidney dysplasia; kidney/renal system: dysmorphology; renal malformation
alt_id: MP:0000518; MP:0003650
xref: Fyler:4512; HP:0000110; HP:0005565; HP:0012210; MGI:2173595
G
Fh
fumarate hydratase
IMP
RGD
PMID:27556703
RGD:13792708
NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
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Fhem1
fumarate hydratase; TALEN induced mutant 1
IMP
RGD
PMID:27556703
RGD:13792708
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Ren
renin
exacerbates
IMP
compared to wild type
RGD
PMID:21242461
RGD:7771614
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Renem1Mcwi
renin; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
exacerbates
IMP
compared to wild type
RGD
PMID:21242461
RGD:7771614
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Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
IMP
RGD
PMID:26077568
RGD:13800514
NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
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Hsd11b2em1Jmul
hydroxysteroid 11-beta dehydrogenase 2; ZFN induced mutant1, Jmul
IMP
RGD
PMID:26077568
RGD:13800514
G
Lepr
leptin receptor
IMP
RGD
PMID:27465994
RGD:12911217
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Leprem2Mcwi
leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:27465994
RGD:12911217
G
Ahr
aryl hydrocarbon receptor
IMP
compared to Hsd:SD
RGD
PMID:23859880
RGD:13204753
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
G
Ahrem2Sage
aryl hydrocarbon receptor; ZFN induced mutant2, Sage
IMP
compared to Hsd:SD
RGD
PMID:23859880
RGD:13204753
G
Ctns
cystinosin, lysosomal cystine transporter
IMP
RGD
PMID:35695380
RGD:155630629
NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120
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Gla
galactosidase, alpha
IMP
RGD
PMID:29979634
RGD:401976416
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
G
Glaem2Mcwi
galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:29979634
RGD:401976416
G
Add3
adducin 3
IMP
RGD
PMID:32029431
RGD:150340736
NCBI chr 1:252,147,341...252,255,126
Ensembl chr 1:252,147,386...252,255,124
G
Col4a5
collagen type IV alpha 5 chain
IMP
RGD
PMID:34675305
RGD:329845598
NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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Ctns
cystinosin, lysosomal cystine transporter
IMP
RGD
PMID:35695380
RGD:155630629
NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120
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P2ry2
purinergic receptor P2Y2
IMP
RGD
PMID:19155635
RGD:2316657
NCBI chr 1:155,352,050...155,367,423
Ensembl chr 1:155,351,165...155,367,632
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Atp7b
ATPase copper transporting beta
IAGP
RGD
PMID:11509115
RGD:1302456
NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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Atp7bhts
ATPase copper transporting beta; hepatitis
IAGP
RGD
PMID:11509115
RGD:1302456
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Ctns
cystinosin, lysosomal cystine transporter
IMP
RGD
PMID:35695380
RGD:155630629
NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120
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Mmp2
matrix metallopeptidase 2
IMP
associated Experimental Diabetes Mellitus, hypertension; compared to wild type SS
RGD
PMID:37643020
RGD:401827835
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp2em2Mcwi
matrix metallopeptidase 2; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
associated Experimental Diabetes Mellitus, hypertension; compared to wild type SS
RGD
PMID:37643020
RGD:401827835
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Nppc
natriuretic peptide C
IMP
compared to wild type
RGD
PMID:29566041
RGD:127284867
NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
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Nppcem3Kyo
natriuretic peptide C; ZFN induced mutant 3, Kyo
IMP
compared to wild type
RGD
PMID:29566041
RGD:127284867
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Ahr
aryl hydrocarbon receptor
IMP
compared to Hsd:SD
RGD
PMID:23859880
RGD:13204753
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
G
Ahrem2Sage
aryl hydrocarbon receptor; ZFN induced mutant2, Sage
IMP
compared to Hsd:SD
RGD
PMID:23859880
RGD:13204753
G
Lepr
leptin receptor
IAGP
DNA:mutations:cds: : (rat)
RGD
PMID:10901178
RGD:401965414
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Abcb1a
ATP binding cassette subfamily B member 1A
IAGP
RGD
PMID:23569176
RGD:8657335
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
G
Anks6
ankyrin repeat and sterile alpha motif domain containing 6
IAGP
RGD
PMID:7933831
RGD:1300446
NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
G
Anks6PKD
ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease
IAGP
RGD
PMID:7933831
RGD:1300446
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Odc1
ornithine decarboxylase 1
TAS
RGD
PMID:12716758
RGD:1578327
NCBI chr 6:40,329,831...40,336,444
Ensembl chr 6:40,329,964...40,336,440
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Lepr
leptin receptor
IMP IAGP
DNA:mutations:cds: : (rat)
RGD
PMID:26537785 PMID:30278832
RGD:12911216 , RGD:401960095
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Leprem4Lizh
leptin receptor; CRISPR/Cas9 induced mutant 4, Lizh
IMP
RGD
PMID:26537785
RGD:12911216
G
P2ry2
purinergic receptor P2Y2
IMP
RGD
PMID:19155635
RGD:2316657
NCBI chr 1:155,352,050...155,367,423
Ensembl chr 1:155,351,165...155,367,632
G
Ednra
endothelin receptor type A
IDA
RGD
PMID:16157796
RGD:1581830
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
G
Lepr
leptin receptor
disease_progression
IMP IAGP
DNA:mutations:cds: : (rat)
RGD
PMID:27465994 PMID:28746409
RGD:12911217 , RGD:401965413
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Leprem2Mcwi
leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
disease_progression
IMP
RGD
PMID:27465994
RGD:12911217
G
Mmp2
matrix metallopeptidase 2
ameliorates
IMP
compared to wild type SS
RGD
PMID:37643020
RGD:401827835
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mmp2em2Mcwi
matrix metallopeptidase 2; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
ameliorates
IMP
compared to wild type SS
RGD
PMID:37643020
RGD:401827835
G
Shc1
SHC adaptor protein 1
ameliorates
IMP
RGD
PMID:27270176
RGD:12792230
NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
G
Shc1em4Mcwi
SHC adaptor protein 1; ZFN induced mutant 4, Medical College of Wisconsin
ameliorates
IMP
RGD
PMID:27270176
RGD:12792230
G
Sod3
superoxide dismutase 3
onset
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
G
Sod3m1Mcwi
superoxide dismutase 3; mutation 1, Medical College of Wisconsin
onset
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
G
Trpc6
transient receptor potential cation channel, subfamily C, member 6
induces
IMP
compared to wild type vehicle-treated control
RGD
PMID:29923767
RGD:149735534
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
G
Trpc6em1Mcwi
transient receptor potential cation channel, subfamily C, member 6; CRISPR/Cas9 induced mutant 1, Medical College of Wisconsin
induces
IMP
compared to wild type vehicle-treated control
RGD
PMID:29923767
RGD:149735534
G
Ahr
aryl hydrocarbon receptor
IMP
compared to Hsd:SD
RGD
PMID:23859880
RGD:13204753
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
G
Ahrem2Sage
aryl hydrocarbon receptor; ZFN induced mutant2, Sage
IMP
compared to Hsd:SD
RGD
PMID:23859880
RGD:13204753
G
Nek8
NIMA-related kinase 8
IAGP
compared to control Lewis
RGD
PMID:22899815
RGD:40924667
NCBI chr10:63,060,868...63,073,546
Ensembl chr10:63,061,253...63,072,416
G
Nek8lpkArc
NIMA-related kinase 8; lpk mutant, Arc
IAGP
compared to control Lewis
RGD
PMID:22899815
RGD:40924667
G
Tmem67
transmembrane protein 67
IAGP
RGD
PMID:19515853
RGD:8554306
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
G
Ahr
aryl hydrocarbon receptor
sexual_dimorphism
IMP
females compared to Hsd:SD females
RGD
PMID:23859880
RGD:13204753
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
G
Ahrem2Sage
aryl hydrocarbon receptor; ZFN induced mutant2, Sage
sexual_dimorphism
IMP
females compared to Hsd:SD females
RGD
PMID:23859880
RGD:13204753
G
Anks6
ankyrin repeat and sterile alpha motif domain containing 6
IAGP
compared to PKD
RGD
PMID:7933831
RGD:1300446
NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
G
Anks6PKD
ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease
IAGP
compared to PKD
RGD
PMID:7933831
RGD:1300446
G
Ctns
cystinosin, lysosomal cystine transporter
IMP
RGD
PMID:35695380
RGD:155630629
NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120
G
Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
IMP
compared to wild type
RGD
PMID:26077568
RGD:13800514
NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
G
Hsd11b2em1Jmul
hydroxysteroid 11-beta dehydrogenase 2; ZFN induced mutant1, Jmul
IMP
compared to wild type
RGD
PMID:26077568
RGD:13800514
G
Mc4r
melanocortin 4 receptor
IMP
RGD
PMID:24400148
RGD:13825242
NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
G
Mc4rm1Hubr
melanocortin 4 receptor; ENU induced mutation 1, Hubr
IMP
RGD
PMID:24400148
RGD:13825242
G
Nr4a1
nuclear receptor subfamily 4, group A, member 1
IMP
compared to FHH
RGD
PMID:24722447
RGD:12910103
NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297
G
Nr4a1m1Mcwi
nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin
IMP
compared to FHH
RGD
PMID:24722447
RGD:12910103
G
Tmem67
transmembrane protein 67
IAGP
RGD
PMID:30705305 PMID:11095650 PMID:15052665
RGD:14995942 , RGD:1300514 , RGD:15014788
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
G
Tmem67wpk
transmembrane protein 67; wpk mutant
IAGP
RGD
PMID:30705305 PMID:15052665
RGD:14995942 , RGD:15014788
G
Col4a5
collagen type IV alpha 5 chain
IMP
RGD
PMID:34675305
RGD:329845598
NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
G
Lepr
leptin receptor
IAGP
DNA:mutations:cds: : (rat)
RGD
PMID:30278832
RGD:401960095
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Ednra
endothelin receptor type A
IMP
RGD
PMID:12538737
RGD:1581844
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
G
Ednrb
endothelin receptor type B
IMP
RGD
PMID:12538737
RGD:1581844
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
G
Vdr
vitamin D receptor
IMP
RGD
PMID:32231239
RGD:32716373
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
G
Vdrem2Thka
vitamin D receptor; CRISPR/Cas9 induced mutant 2, Thka
IMP
RGD
PMID:32231239
RGD:32716373
G
Lepr
leptin receptor
IMP
RGD
PMID:27465994
RGD:12911217
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Leprem2Mcwi
leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:27465994
RGD:12911217
G
Add3
adducin 3
IMP
RGD
PMID:32029431
RGD:150340736
NCBI chr 1:252,147,341...252,255,126
Ensembl chr 1:252,147,386...252,255,124
G
Lepr
leptin receptor
IAGP
DNA:mutations:cds: : (rat)
RGD
PMID:30278832 PMID:10901178 PMID:28746409
RGD:401960095 , RGD:401965414 , RGD:401965413
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Sod3
superoxide dismutase 3
onset
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
G
Sod3m1Mcwi
superoxide dismutase 3; mutation 1, Medical College of Wisconsin
onset
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
G
Add3
adducin 3
IMP
RGD
PMID:32029431
RGD:150340736
NCBI chr 1:252,147,341...252,255,126
Ensembl chr 1:252,147,386...252,255,124
G
Egfr
epidermal growth factor receptor
IDA
RGD
PMID:15033924
RGD:1581909
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
G
Mir146b
microRNA 146b
sexual_dimorphism
IMP
RGD
PMID:31668631
RGD:127285407
NCBI chr 1:245,203,438...245,203,525
Ensembl chr 1:245,203,438...245,203,525
G
Mir146bem1Mcwi
microRNA 146b; CRISPR/Cas9 induced mutant 1, Mcwi
sexual_dimorphism
IMP
RGD
PMID:31668631
RGD:127285407
G
Sod3
superoxide dismutase 3
onset
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
G
Sod3m1Mcwi
superoxide dismutase 3; mutation 1, Medical College of Wisconsin
onset
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
G
Gla
galactosidase, alpha
onset
IMP
RGD
PMID:29979634
RGD:401976416
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
G
Glaem2Mcwi
galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin
onset
IMP
RGD
PMID:29979634
RGD:401976416
G
Col4a5
collagen type IV alpha 5 chain
IMP
RGD
PMID:34675305
RGD:329845598
NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
G
Lepr
leptin receptor
treatment
IAGP
compared to ad lib fed rats; increased desmin, fibronectin and collagenase
RGD
PMID:11500530
RGD:628581
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Leprfa
leptin receptor; fa mutant
treatment
IAGP
compared to ad lib fed rats; increased desmin, fibronectin and collagenase
RGD
PMID:11500530
RGD:628581
G
Sod3
superoxide dismutase 3
onset
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
G
Sod3m1Mcwi
superoxide dismutase 3; mutation 1, Medical College of Wisconsin
onset
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
G
Lepr
leptin receptor
IAGP
DNA:mutations:cds: : (rat)
RGD
PMID:30278832
RGD:401960095
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Ednra
endothelin receptor type A
IMP
RGD
PMID:12538737
RGD:1581844
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
G
Ednrb
endothelin receptor type B
IMP
RGD
PMID:12538737
RGD:1581844
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
G
Lepr
leptin receptor
disease_progression
IMP IAGP
compared to SS/JrHsdMcwi DNA:mutations:cds: : (rat)
RGD
PMID:27465994 PMID:10901178 PMID:30278832
RGD:12911217 , RGD:401965414 , RGD:401960095
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Leprem2Mcwi
leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
disease_progression
IMP
compared to SS/JrHsdMcwi
RGD
PMID:27465994
RGD:12911217
G
Mmp2
matrix metallopeptidase 2
ameliorates
IMP
compared to wild type SS
RGD
PMID:37643020
RGD:401827835
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mmp2em2Mcwi
matrix metallopeptidase 2; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
ameliorates
IMP
compared to wild type SS
RGD
PMID:37643020
RGD:401827835
G
Nr4a1
nuclear receptor subfamily 4, group A, member 1
IMP
compared to FHH
RGD
PMID:24722447
RGD:12910103
NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297
G
Nr4a1m1Mcwi
nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin
IMP
compared to FHH
RGD
PMID:24722447
RGD:12910103
G
Sod3
superoxide dismutase 3
onset
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
G
Sod3m1Mcwi
superoxide dismutase 3; mutation 1, Medical College of Wisconsin
onset
IMP
compared to SS/JrHsdMcwi
RGD
PMID:31972339
RGD:150573712
G
Ctns
cystinosin, lysosomal cystine transporter
IMP
RGD
PMID:35695380
RGD:155630629
NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120
G
Lepr
leptin receptor
IAGP
DNA:mutations:cds: : (rat)
RGD
PMID:10901178
RGD:401965414
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Mir542
microRNA 542
ameliorates
IMP
RGD
PMID:32470449
RGD:401900731
NCBI chr X:132,802,623...132,802,701
Ensembl chr X:132,802,623...132,802,701
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