RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | Female Urogenital Diseases |
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Accession: | DOID:9002739
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browse the term
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Definition: | Pathological processes of the female URINARY TRACT and the reproductive system (GENITALIA, FEMALE). |
Synonyms: | exact_synonym: | Female Genitourinary Disease; Female Genitourinary Diseases; Female Urogenital Disease |
| primary_id: | MESH:D052776; RDO:0005654 |
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GViewer not supported for the selected species.
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Amh |
anti-Mullerian hormone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chrNW_004624828:6,635,192...6,638,104
Ensembl chrNW_004624828:6,631,420...6,637,732
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Amhr2 |
anti-Mullerian hormone receptor type 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chrNW_004624904:1,520,450...1,535,291
Ensembl chrNW_004624904:1,520,572...1,530,908
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Bmpr1a |
bone morphogenetic protein receptor type 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chrNW_004624841:218,642...304,744
Ensembl chrNW_004624841:219,133...265,397
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Emx2 |
empty spiracles homeobox 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chrNW_004624737:29,103,378...29,110,356
Ensembl chrNW_004624737:29,103,279...29,110,344
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Esr1 |
estrogen receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chrNW_004624785:6,164,507...6,601,302
Ensembl chrNW_004624785:6,164,379...6,601,326
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Hoxa10 |
homeobox A10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chrNW_004624739:3,425,468...3,435,218
Ensembl chrNW_004624739:3,425,468...3,433,967
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Hoxa11 |
homeobox A11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chrNW_004624739:3,420,501...3,424,151
Ensembl chrNW_004624739:3,418,723...3,423,950
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Hoxa13 |
homeobox A13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chrNW_004624739:3,405,860...3,410,426
Ensembl chrNW_004624739:3,406,436...3,410,851
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Igf1 |
insulin like growth factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300
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Lhx1 |
LIM homeobox 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chrNW_004624871:3,954,490...3,961,861
Ensembl chrNW_004624871:3,954,504...3,963,033
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Lif |
LIF interleukin 6 family cytokine |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chrNW_004624747:6,558,872...6,565,207
Ensembl chrNW_004624747:6,558,817...6,565,281
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Msx2 |
msh homeobox 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16513791 |
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NCBI chrNW_004624733:15,288,417...15,294,481
Ensembl chrNW_004624733:15,288,326...15,294,568
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Pax2 |
paired box 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chrNW_004624831:375,851...453,968
Ensembl chrNW_004624831:375,866...453,930
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Timp1 |
TIMP metallopeptidase inhibitor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chrNW_004624978:120,723...125,006
Ensembl chrNW_004624978:121,803...124,912
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Tp63 |
tumor protein p63 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chrNW_004624730:67,283,444...67,489,808
Ensembl chrNW_004624730:67,286,160...67,489,670
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Wnt4 |
Wnt family member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chrNW_004624764:6,913,027...6,934,650
Ensembl chrNW_004624764:6,921,811...6,933,392
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Wnt5a |
Wnt family member 5A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chrNW_004624822:1,824,378...1,843,599
Ensembl chrNW_004624822:1,825,238...1,841,288
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Wnt7a |
Wnt family member 7A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002989 |
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NCBI chrNW_004624796:12,431,310...12,472,303
Ensembl chrNW_004624796:12,431,959...12,472,303
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Fancl |
FA complementation group L |
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ISO |
OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324 |
MouseDO |
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NCBI chrNW_004624833:3,603,712...3,692,540
Ensembl chrNW_004624833:3,603,383...3,663,572
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Fshr |
follicle stimulating hormone receptor |
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ISO |
ClinVar Annotator: match by term: Gonadal dysgenesis, XX type | ClinVar Annotator: match by term: Ovarian dysgenesis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004624738:30,170,514...30,369,250
Ensembl chrNW_004624738:30,176,817...30,369,166
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Mrps22 |
mitochondrial ribosomal protein S22 |
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ISO |
ClinVar Annotator: match by term: 46 XX gonadal dysgenesis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29566152 |
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NCBI chrNW_004624730:15,894,624...15,908,069
Ensembl chrNW_004624730:15,894,676...15,907,892
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Nr5a1 |
nuclear receptor subfamily 5 group A member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19246354 |
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NCBI chrNW_004624760:10,603,504...10,626,259
Ensembl chrNW_004624760:10,605,877...10,626,386
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Sox9 |
SRY-box transcription factor 9 |
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ISO |
ClinVar Annotator: match by term: 46,XX sex reversal 2 |
ClinVar |
PMID:21208124 PMID:22051515 |
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NCBI chrNW_004624801:2,296,353...2,300,853
Ensembl chrNW_004624801:2,296,168...2,301,596
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Arhgap44 |
Rho GTPase activating protein 44 |
disease_progression |
ISO |
DNA:SNPs, haplotype:intron, exon: (rs2072255, rs2072254) (human) DNA:SNP:intron: (rs2072255) (human) |
RGD |
PMID:21107268 PMID:28069446 |
RGD:401901288 RGD:401901289 |
NCBI chrNW_004624877:662,595...851,762
Ensembl chrNW_004624877:661,998...850,431
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Bst2 |
bone marrow stromal cell antigen 2 |
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ISO |
DNA:SNPs: : |
RGD |
PMID:26885809 |
RGD:14398494 |
NCBI chrNW_004624908:588,925...591,033
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Cd4 |
CD4 molecule |
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ISO |
associated with drug dependence; protein:increased expression:temporal lobe (human) |
RGD |
PMID:16873198 |
RGD:407420271 |
NCBI chrNW_004624860:3,470,886...3,492,247
Ensembl chrNW_004624860:3,470,631...3,492,846
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Cd40lg |
CD40 ligand |
treatment |
ISO |
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RGD |
PMID:9499800 |
RGD:11344976 |
NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338
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Cd68 |
CD68 molecule |
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ISO |
associated with drug dependence; protein:increased expression:temporal lobe (human) |
RGD |
PMID:16873198 |
RGD:407420271 |
NCBI chrNW_004624786:10,195,337...10,197,963
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Cd8a |
CD8 subunit alpha |
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ISO |
associated with drug dependence; protein:increased expression:temporal lobe (human) |
RGD |
PMID:16873198 |
RGD:407420271 |
NCBI chrNW_004624749:16,564,944...16,569,890
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Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
susceptibility |
ISO |
DNA:polymorphism:exon:p.K751Q(human) |
RGD |
PMID:20127180 |
RGD:5688740 |
NCBI chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947
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Ido1 |
indoleamine 2,3-dioxygenase 1 |
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ISO |
associated with pulmonary tuberculosis;protein:increased expression:blood (human) |
RGD |
PMID:32369456 |
RGD:39939073 |
NCBI chrNW_004624780:3,684,941...3,697,506
Ensembl chrNW_004624780:3,685,069...3,697,474
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Ifng |
interferon gamma |
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ISO |
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to |
ClinVar |
PMID:12854077 |
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NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
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Igf2 |
insulin like growth factor 2 |
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ISO |
protein:decreased expression:plasma |
RGD |
PMID:11232005 |
RGD:5509969 |
NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026
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Il2 |
interleukin 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9861562 |
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NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453
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Ncr3 |
natural cytotoxicity triggering receptor 3 |
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ISO |
protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) |
RGD |
PMID:27382604 |
RGD:40818276 |
NCBI chrNW_004624754:24,607,623...24,612,716
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Tnf |
tumor necrosis factor |
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ISO |
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RGD |
PMID:8548330 |
RGD:12904035 |
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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Tnfrsf1a |
TNF receptor superfamily member 1A |
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ISO |
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RGD |
PMID:8548330 |
RGD:12904035 |
NCBI chrNW_004624860:3,111,244...3,123,041
Ensembl chrNW_004624860:3,111,630...3,122,711
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Tnfrsf1b |
TNF receptor superfamily member 1B |
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ISO |
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RGD |
PMID:8548330 |
RGD:12904035 |
NCBI chrNW_004624818:894,470...922,806
Ensembl chrNW_004624818:896,150...922,710
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Bmpr1b |
bone morphogenetic protein receptor type 1B |
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ISO |
ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type | ClinVar Annotator: match by term: CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES |
OMIM ClinVar |
PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 PMID:26105076 PMID:28492532 PMID:35034853 More...
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NCBI chrNW_004624757:22,697,639...23,142,209
Ensembl chrNW_004624757:22,955,666...23,142,499
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Kdr |
kinase insert domain receptor |
severity treatment |
ISO |
mRNA, protein:increased expression:endometrium |
RGD |
PMID:31596310 |
RGD:126925216 |
NCBI chrNW_004624761:14,330,224...14,380,680
Ensembl chrNW_004624761:14,330,489...14,379,051
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Vegfa |
vascular endothelial growth factor A |
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ISO |
mRNA, protein:increased expression:endometrium |
RGD |
PMID:31596310 |
RGD:126925216 |
NCBI chrNW_004624754:15,929,414...15,943,637
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Adrb2 |
adrenoceptor beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27400929 |
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NCBI chrNW_004624774:8,211,723...8,215,962
Ensembl chrNW_004624774:8,211,984...8,213,240
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Gc |
GC vitamin D binding protein |
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ISO |
associated with HIV Infections;protein:increased expression:cerebrospinal fluid: |
RGD |
PMID:17929958 |
RGD:5509882 |
NCBI chrNW_004624890:3,274,239...3,318,281
Ensembl chrNW_004624890:3,226,900...3,318,316
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Il1b |
interleukin 1 beta |
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ISO |
protein:increased expression:neocortex |
RGD |
PMID:17678975 |
RGD:1626641 |
NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
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Insr |
insulin receptor |
severity |
ISO |
protein:increased expression:cerebrospinal fluid, plasma |
RGD |
PMID:22629383 |
RGD:10403033 |
NCBI chrNW_004624828:345,135...485,856
Ensembl chrNW_004624828:345,135...486,184
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Irs1 |
insulin receptor substrate 1 |
severity |
ISO |
protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte |
RGD |
PMID:22629383 |
RGD:10403033 |
NCBI chrNW_004624843:1,113,075...1,178,859
Ensembl chrNW_004624843:1,120,974...1,178,859
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Nefl |
neurofilament light chain |
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ISO |
protein:increased expression:CSF (human) associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human) |
RGD |
PMID:27400930 PMID:30105502 |
RGD:127284876 RGD:127284885 |
NCBI chrNW_004624758:20,063,109...20,068,459
Ensembl chrNW_004624758:20,062,685...20,068,609
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Npy |
neuropeptide Y |
severity |
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:8815163 |
RGD:10431910 |
NCBI chrNW_004624739:6,277,704...6,285,454
Ensembl chrNW_004624739:6,277,612...6,285,397
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Oprm1 |
opioid receptor mu 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27400929 |
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NCBI chrNW_004624785:4,147,079...4,195,712
Ensembl chrNW_004624785:4,032,689...4,196,186
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Pdgfb |
platelet derived growth factor subunit B |
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ISO |
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RGD |
PMID:21368226 |
RGD:6482787 |
NCBI chrNW_004624752:9,072,471...9,088,289
Ensembl chrNW_004624752:9,072,512...9,088,593
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Slc6a4 |
solute carrier family 6 member 4 |
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ISO |
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RGD |
PMID:25404050 |
RGD:38676266 |
NCBI chrNW_004624786:2,673,285...2,711,432
Ensembl chrNW_004624786:2,672,552...2,710,914
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Agtr1 |
angiotensin II receptor type 1 |
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ISO |
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RGD |
PMID:2 |
RGD:1303381 |
NCBI chrNW_004624730:25,964,848...26,006,468
Ensembl chrNW_004624730:25,964,811...26,006,463
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Agtr2 |
angiotensin II receptor type 2 |
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ISO |
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RGD |
PMID:2 |
RGD:1303381 |
NCBI chrNW_004624967:327,627...332,000
Ensembl chrNW_004624967:329,284...330,372
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Mtor |
mechanistic target of rapamycin kinase |
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ISO |
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RGD |
PMID:23678040 |
RGD:7245474 |
NCBI chrNW_004624818:1,570,155...1,698,264
Ensembl chrNW_004624818:1,570,276...1,698,259
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Myh9 |
myosin heavy chain 9 |
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ISO |
protein:decreased expression:glomerulus |
RGD |
PMID:22313957 |
RGD:6903274 |
NCBI chrNW_004624752:11,327,881...11,414,037
Ensembl chrNW_004624752:11,327,877...11,413,669
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Notch4 |
notch receptor 4 |
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ISO |
protein: increased expression: kidney |
RGD |
PMID:20706108 |
RGD:6480788 |
NCBI chrNW_004624754:24,108,661...24,128,053
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Nphs1 |
NPHS1 adhesion molecule, nephrin |
treatment |
ISO |
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RGD |
PMID:17229913 PMID:19188342 |
RGD:38596324 RGD:38599164 |
NCBI chrNW_004624794:10,117,464...10,138,511
Ensembl chrNW_004624794:10,116,777...10,135,963
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Bcl2 |
BCL2 apoptosis regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10861090 |
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NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344
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Cd4 |
CD4 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9546790 |
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NCBI chrNW_004624860:3,470,886...3,492,247
Ensembl chrNW_004624860:3,470,631...3,492,846
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Tnfrsf8 |
TNF receptor superfamily member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9379333 |
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NCBI chrNW_004624818:957,597...996,565
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Abhd2 |
abhydrolase domain containing 2, acylglycerol lipase |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624768:16,283,369...16,404,476
Ensembl chrNW_004624768:16,297,464...16,402,624
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Adamtsl3 |
ADAMTS like 3 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624768:19,337,770...19,692,425
Ensembl chrNW_004624768:19,339,106...19,691,905
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Adarb2 |
adenosine deaminase RNA specific B2 (inactive) |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624775:9,089,839...9,646,985
Ensembl chrNW_004624775:9,090,545...9,643,355
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Ahctf1 |
AT-hook containing transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624771:12,785,656...12,863,797
Ensembl chrNW_004624771:12,795,243...12,863,813
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Amelx |
amelogenin X-linked |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624882:3,072,970...3,083,832
Ensembl chrNW_004624882:3,072,313...3,082,505
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Amfr |
autocrine motility factor receptor |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624757:136,289...179,743
Ensembl chrNW_004624757:136,283...179,138
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Ankrd24 |
ankyrin repeat domain 24 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624828:5,410,032...5,441,824
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Anos1 |
anosmin 1 |
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ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:25741868 PMID:27657687 PMID:28492532 PMID:32870266 |
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NCBI chrNW_004624834:6,125,737...6,303,205
Ensembl chrNW_004624834:6,127,371...6,303,174
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Ap3b2 |
adaptor related protein complex 3 subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624768:18,476,562...18,507,933
Ensembl chrNW_004624768:18,476,447...18,507,998
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Apba3 |
amyloid beta precursor protein binding family A member 3 |
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ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624828:6,398,541...6,405,904
Ensembl chrNW_004624828:6,398,622...6,403,984
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G |
Apc |
APC regulator of WNT signaling pathway |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624743:30,517,034...30,635,740
Ensembl chrNW_004624743:30,546,323...30,635,737
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G |
Arhgap6 |
Rho GTPase activating protein 6 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624882:2,706,827...3,211,600
Ensembl chrNW_004624882:2,708,089...3,211,766
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G |
Arsa |
arylsulfatase A |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624752:149,248...153,625
Ensembl chrNW_004624752:149,187...153,746
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G |
Asmtl |
acetylserotonin O-methyltransferase like |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624834:660,932...675,471
Ensembl chrNW_004624834:660,803...675,505
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G |
Atcay |
ATCAY kinesin light chain interacting caytaxin |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624828:6,471,452...6,495,142
Ensembl chrNW_004624828:6,471,460...6,495,142
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G |
Atp10b |
ATPase phospholipid transporting 10B (putative) |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624733:28,618,696...28,944,804
Ensembl chrNW_004624733:28,841,329...28,946,717
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G |
Aven |
apoptosis and caspase activation inhibitor |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624804:267,128...468,544
Ensembl chrNW_004624804:305,668...465,998
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G |
Axl |
AXL receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32870266 |
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NCBI chrNW_004624907:76,236...106,765
Ensembl chrNW_004624907:77,806...106,228
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G |
Bcap29 |
B cell receptor associated protein 29 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624739:22,122,859...22,171,621
Ensembl chrNW_004624739:22,121,480...22,171,589
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G |
Bmp15 |
bone morphogenetic protein 15 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624893:3,014,535...3,020,862
Ensembl chrNW_004624893:3,014,989...3,021,746
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G |
Bmp4 |
bone morphogenetic protein 4 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743
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G |
Bnc1 |
basonuclin zinc finger protein 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624768:19,011,971...19,035,717
Ensembl chrNW_004624768:19,013,480...19,024,025
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G |
Btbd1 |
BTB domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624768:18,796,734...18,833,477
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G |
Capza1 |
capping actin protein of muscle Z-line subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624772:8,407,883...8,455,734
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G |
Ccdc148 |
coiled-coil domain containing 148 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624732:7,209,179...7,622,950
Ensembl chrNW_004624732:7,314,517...7,557,047
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G |
Ccser1 |
coiled-coil serine rich protein 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624757:17,926,351...19,299,575
Ensembl chrNW_004624757:17,926,909...18,705,413
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G |
Cdk13 |
cyclin dependent kinase 13 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624740:21,100,780...21,202,147
Ensembl chrNW_004624740:21,105,212...21,202,111
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G |
Chaf1a |
chromatin assembly factor 1 subunit A |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624828:5,266,676...5,302,061
Ensembl chrNW_004624828:5,266,932...5,302,067
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|
G |
Chd7 |
chromodomain helicase DNA binding protein 7 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:18414213 PMID:21158681 PMID:22539353 PMID:24033266 PMID:25077900 PMID:25741868 PMID:28492532 PMID:32870266 More...
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NCBI chrNW_004624744:31,103,053...31,302,314
Ensembl chrNW_004624744:31,103,059...31,235,623
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|
G |
Cntln |
centlein |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624736:21,163,787...21,500,649
Ensembl chrNW_004624736:21,163,845...21,499,031
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G |
Cpb2 |
carboxypeptidase B2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16167916 |
|
NCBI chrNW_004624748:8,850,128...8,927,986
Ensembl chrNW_004624748:8,849,900...8,928,853
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|
G |
Cpeb1 |
cytoplasmic polyadenylation element binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624768:18,386,415...18,468,879
|
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G |
Creb3l3 |
cAMP responsive element binding protein 3 like 3 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624828:5,450,265...5,468,079
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G |
CUNH15orf40 |
chromosome unknown C15orf40 homolog |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624768:18,762,266...18,782,591
Ensembl chrNW_004624768:18,777,797...18,782,227
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G |
Dapk3 |
death associated protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624828:5,616,839...5,626,849
Ensembl chrNW_004624828:5,621,696...5,625,601
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G |
Dcc |
DCC netrin 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:24808016 PMID:25741868 PMID:32870266 |
|
NCBI chrNW_004624778:15,979,350...17,225,263
Ensembl chrNW_004624778:15,979,467...17,222,039
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G |
Ddx1 |
DEAD-box helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624865:898,850...927,375
Ensembl chrNW_004624865:898,850...928,091
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|
G |
Dennd6a |
DENN domain containing 6A |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624821:374,615...446,656
Ensembl chrNW_004624821:376,525...446,583
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G |
Diaph2 |
diaphanous related formin 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624851:3,291,888...4,329,285
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|
G |
Dlc1 |
DLC1 Rho GTPase activating protein |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624839:3,495,580...3,899,009
Ensembl chrNW_004624839:3,509,441...3,899,162
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G |
Dmxl2 |
Dmx like 2 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:28492532 PMID:32870266 |
|
NCBI chrNW_004624731:8,702,288...8,843,807
Ensembl chrNW_004624731:8,702,137...8,842,653
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G |
Dusp19 |
dual specificity phosphatase 19 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624844:4,798,542...4,822,739
Ensembl chrNW_004624844:4,798,455...4,818,818
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|
G |
Dusp22 |
dual specificity phosphatase 22 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624756:23,968,148...24,017,340
Ensembl chrNW_004624756:23,968,017...24,017,332
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G |
Ebi3 |
Epstein-Barr virus induced 3 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624828:5,402,589...5,409,914
Ensembl chrNW_004624828:5,402,961...5,407,891
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G |
Eef2 |
eukaryotic translation elongation factor 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624828:5,601,906...5,609,978
Ensembl chrNW_004624828:5,601,444...5,611,405
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G |
Eri1 |
exoribonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624839:5,090,187...5,119,985
Ensembl chrNW_004624839:5,090,369...5,118,775
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G |
Fam120b |
family with sequence similarity 120 member B |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624850:6,156,155...6,253,609
Ensembl chrNW_004624850:6,165,175...6,253,695
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|
G |
Fezf1 |
FEZ family zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:32870266 |
|
NCBI chrNW_004624783:13,715,987...13,719,287
Ensembl chrNW_004624783:13,713,422...13,718,604
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|
G |
Fgfr1 |
fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:32870266 |
|
NCBI chrNW_004624780:5,161,245...5,212,641
Ensembl chrNW_004624780:5,161,073...5,213,870
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|
G |
Fhit |
fragile histidine triad diadenosine triphosphatase |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624822:6,621,609...8,069,590
Ensembl chrNW_004624822:6,621,909...7,380,047
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|
G |
Flrt3 |
fibronectin leucine rich transmembrane protein 3 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:32870266 |
|
NCBI chrNW_004624741:15,343,304...15,355,742
Ensembl chrNW_004624741:15,343,653...15,355,727
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|
G |
Fsd1 |
fibronectin type III and SPRY domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624828:5,347,861...5,359,825
Ensembl chrNW_004624828:5,344,068...5,359,906
|
|
G |
Fsd2 |
fibronectin type III and SPRY domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624768:18,533,159...18,601,139
Ensembl chrNW_004624768:18,535,062...18,586,449
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G |
Fshb |
follicle stimulating hormone subunit beta |
|
ISO |
follicle-stimulating hormone deficiency,OMIM:229070;DNA:frameshift CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:8220432 |
RGD:1601221 |
NCBI chrNW_004624766:19,328,730...19,332,385
Ensembl chrNW_004624766:19,329,371...19,331,267
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G |
Fshr |
follicle stimulating hormone receptor |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624738:30,170,514...30,369,250
Ensembl chrNW_004624738:30,176,817...30,369,166
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|
G |
Fzd6 |
frizzled class receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624763:19,861,837...19,888,626
|
|
G |
Gabrb2 |
gamma-aminobutyric acid type A receptor subunit beta2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624733:28,022,632...28,236,211
Ensembl chrNW_004624733:28,022,635...28,230,865
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G |
Gadl1 |
glutamate decarboxylase like 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624788:8,577,832...8,753,989
Ensembl chrNW_004624788:8,577,761...8,754,206
|
|
G |
Gnrh1 |
gonadotropin releasing hormone 1 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:32870266 |
|
NCBI chrNW_004624758:20,447,413...20,451,059
Ensembl chrNW_004624758:20,447,583...20,450,968
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|
G |
Gnrhr |
gonadotropin releasing hormone receptor |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 PMID:10523035 PMID:10690855 PMID:12364481 PMID:12574221 PMID:16968799 PMID:22724017 PMID:22745237 PMID:23155690 PMID:24732674 PMID:25741868 PMID:26207952 PMID:28492532 PMID:28611058 PMID:29182666 PMID:32870266 PMID:33223529 More...
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NCBI chrNW_004624761:1,216,501...1,231,229
Ensembl chrNW_004624761:1,216,556...1,225,994
|
|
G |
Gpbp1l1 |
GC-rich promoter binding protein 1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624906:1,526,619...1,577,229
|
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G |
Gpr37l1 |
G protein-coupled receptor 37 like 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624807:8,605,488...8,611,760
Ensembl chrNW_004624807:8,605,488...8,611,669
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G |
Gtf2h2 |
general transcription factor IIH subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624905:395,922...421,203
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G |
Gxylt1 |
glucoside xylosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624917:1,904,987...1,968,657
Ensembl chrNW_004624917:1,909,156...1,968,608
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G |
Hesx1 |
HESX homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:21325470 PMID:23465708 PMID:24703149 PMID:25741868 PMID:28492532 PMID:32870266 More...
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NCBI chrNW_004624822:74,344...102,484
Ensembl chrNW_004624822:74,373...101,828
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G |
Homer2 |
homer scaffold protein 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624768:18,626,353...18,751,279
Ensembl chrNW_004624768:18,635,283...18,721,984
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G |
Ipp |
intracisternal A particle-promoted polypeptide |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624906:1,585,741...1,628,375
Ensembl chrNW_004624906:1,588,909...1,628,301
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G |
Kbtbd12 |
kelch repeat and BTB domain containing 12 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624974:263,569...317,211
Ensembl chrNW_004624974:262,913...317,308
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G |
Kl |
klotho |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:25741868 PMID:32870266 |
|
NCBI chrNW_004624915:95,155...110,834
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|
G |
Klb |
klotho beta |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:32870266 |
|
NCBI chrNW_004624870:4,835,943...4,901,965
Ensembl chrNW_004624870:4,836,473...4,885,950
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G |
Lhx3 |
LIM homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:32870266 |
|
NCBI chrNW_004624760:1,428,496...1,435,414
Ensembl chrNW_004624760:1,429,384...1,435,414
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G |
LOC101702005 |
aromatase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8265607 |
|
NCBI chrNW_004624731:9,053,644...9,100,212
Ensembl chrNW_004624731:9,053,803...9,100,212
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G |
LOC101712555 |
NADPH--cytochrome P450 reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14758361 |
|
NCBI chrNW_004624740:14,739,458...14,790,736
Ensembl chrNW_004624740:14,733,427...14,791,065
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G |
LOC101722366 |
cytochrome P450 2E1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624737:12,335,733...12,345,278
Ensembl chrNW_004624737:12,335,681...12,345,514
|
|
G |
LOC101726496 |
steroid 17-alpha-hydroxylase/17,20 lyase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18645707 |
|
NCBI chrNW_004624831:2,155,851...2,166,621
Ensembl chrNW_004624831:2,157,048...2,166,539
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|
G |
Lrg1 |
leucine rich alpha-2-glycoprotein 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624828:5,204,031...5,207,097
Ensembl chrNW_004624828:5,203,969...5,207,387
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|
G |
Lrig2 |
leucine rich repeats and immunoglobulin like domains 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624772:8,809,226...8,873,614
Ensembl chrNW_004624772:8,809,443...8,868,282
|
|
G |
Macrod2 |
mono-ADP ribosylhydrolase 2 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:32870266 |
|
NCBI chrNW_004624741:14,998,007...17,256,372
Ensembl chrNW_004624741:14,998,305...17,252,759
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|
G |
Map2k2 |
mitogen-activated protein kinase kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624828:5,489,085...5,511,166
Ensembl chrNW_004624828:5,488,814...5,511,445
|
|
G |
Mast2 |
microtubule associated serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624906:1,668,877...1,949,466
Ensembl chrNW_004624906:1,668,923...1,949,466
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G |
Matk |
megakaryocyte-associated tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624828:6,414,859...6,420,924
Ensembl chrNW_004624828:6,415,120...6,419,822
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G |
Mgll |
monoglyceride lipase |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624974:85,513...169,904
Ensembl chrNW_004624974:87,600...170,228
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G |
Mov10 |
Mov10 RNA helicase |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624772:8,458,470...8,481,462
Ensembl chrNW_004624772:8,459,517...8,484,972
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G |
Mpnd |
MPN domain containing |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624828:5,330,536...5,337,973
Ensembl chrNW_004624828:5,328,783...5,337,946
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G |
Mrpl54 |
mitochondrial ribosomal protein L54 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624828:6,405,998...6,409,721
Ensembl chrNW_004624828:6,406,083...6,409,326
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G |
Msl3 |
MSL complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624882:2,594,453...2,614,076
Ensembl chrNW_004624882:2,591,308...2,613,049
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G |
Mycn |
MYCN proto-oncogene, bHLH transcription factor |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624865:780,163...785,776
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G |
Naip |
NLR family apoptosis inhibitory protein |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624905:437,799...485,774
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G |
Nbas |
NBAS subunit of NRZ tethering complex |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624865:937,495...1,208,663
Ensembl chrNW_004624865:961,587...1,212,950
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G |
Ncam2 |
neural cell adhesion molecule 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624745:9,327,125...9,826,922
Ensembl chrNW_004624745:9,327,345...9,822,852
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G |
Nckap5 |
NCK associated protein 5 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624732:32,075,335...32,992,428
Ensembl chrNW_004624732:32,072,125...32,730,105
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G |
Nkx2-6 |
NK2 homeobox 6 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624758:18,908,988...18,914,794
Ensembl chrNW_004624758:18,911,010...18,914,001
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G |
Nkx3-1 |
NK3 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624758:18,874,399...18,876,982
Ensembl chrNW_004624758:18,875,475...18,876,971
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G |
Nmrk2 |
nicotinamide riboside kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624828:6,501,057...6,506,182
Ensembl chrNW_004624828:6,501,212...6,506,339
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G |
Nup35 |
nucleoporin 35 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624844:4,824,240...4,854,814
Ensembl chrNW_004624844:4,824,344...4,854,808
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G |
Ocln |
occludin |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624905:333,853...388,990
Ensembl chrNW_004624905:333,864...388,880
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G |
Otud4 |
OTU deubiquitinase 4 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:25741868 PMID:32870266 |
|
NCBI chrNW_004624853:4,091,591...4,145,344
Ensembl chrNW_004624853:4,091,316...4,140,201
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G |
P2ry8 |
P2Y receptor family member 8 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624834:686,801...708,251
|
|
G |
Pcsk5 |
proprotein convertase subtilisin/kexin type 5 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624811:3,453,218...3,862,970
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|
G |
Pias4 |
protein inhibitor of activated STAT 4 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624828:5,551,538...5,572,647
Ensembl chrNW_004624828:5,551,749...5,572,570
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|
G |
Plin5 |
perilipin 5 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624828:5,208,060...5,218,553
Ensembl chrNW_004624828:5,207,937...5,218,901
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|
G |
Pnpla4 |
patatin like phospholipase domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624834:5,497,109...5,529,912
Ensembl chrNW_004624834:5,496,617...5,528,555
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|
G |
Pnpla6 |
patatin like phospholipase domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:28492532 PMID:32870266 |
|
NCBI chrNW_004624828:643,552...664,665
Ensembl chrNW_004624828:643,471...664,665
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G |
Polr3b |
RNA polymerase III subunit B |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:22855961 PMID:25133958 PMID:25741868 PMID:27029625 PMID:27512013 PMID:28492532 PMID:32345981 PMID:32870266 PMID:33726816 PMID:34440436 PMID:35316923 More...
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NCBI chrNW_004624750:2,906,041...3,004,241
Ensembl chrNW_004624750:2,905,747...3,004,237
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|
G |
Ppm1j |
protein phosphatase, Mg2+/Mn2+ dependent 1J |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624772:8,491,020...8,496,183
Ensembl chrNW_004624772:8,491,030...8,496,156
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|
G |
Prkaa1 |
protein kinase AMP-activated catalytic subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624759:14,143,439...14,174,971
Ensembl chrNW_004624759:14,142,956...14,171,718
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G |
Prl |
prolactin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6777091 |
|
NCBI chrNW_004624756:4,585,542...4,593,285
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G |
Prok2 |
prokineticin 2 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:32870266 |
|
NCBI chrNW_004624773:6,310,025...6,323,245
Ensembl chrNW_004624773:6,307,653...6,323,208
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|
G |
Prokr2 |
prokineticin receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:17054399 PMID:18682503 PMID:18826963 PMID:20022991 PMID:22466334 PMID:22745195 PMID:24830383 PMID:25741868 PMID:28492532 PMID:29161432 PMID:30773290 PMID:31093944 PMID:32870266 More...
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|
NCBI chrNW_004624741:6,270,098...6,281,147
Ensembl chrNW_004624741:6,270,002...6,281,182
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|
G |
Prop1 |
PROP paired-like homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:28492532 PMID:32870266 PMID:36407308 PMID:38096238 |
|
NCBI chrNW_004624733:41,852,638...41,856,493
Ensembl chrNW_004624733:41,850,474...41,856,459
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G |
Psmb1 |
proteasome 20S subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624850:6,339,918...6,357,925
Ensembl chrNW_004624850:6,337,094...6,357,997
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G |
Ptchd1 |
patched domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624829:8,458,430...8,513,011
Ensembl chrNW_004624829:8,458,628...8,512,511
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|
G |
Pudp |
pseudouridine 5'-phosphatase |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624834:4,742,359...4,806,432
Ensembl chrNW_004624834:4,743,541...4,801,896
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G |
Rab3gap1 |
RAB3 GTPase activating protein catalytic subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:32870266 |
|
NCBI chrNW_004624732:34,450,616...34,593,675
Ensembl chrNW_004624732:34,450,630...34,593,675
|
|
G |
Rab3gap2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32870266 |
|
NCBI chrNW_004624835:3,764,480...3,826,271
Ensembl chrNW_004624835:3,765,114...3,826,155
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G |
Ramac |
RNA guanine-7 methyltransferase activating subunit |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624768:18,760,597...18,765,389
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G |
Rhoc |
ras homolog family member C |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624772:8,481,826...8,487,530
Ensembl chrNW_004624772:8,479,015...8,486,171
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G |
Rreb1 |
ras responsive element binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624756:18,259,884...18,383,344
Ensembl chrNW_004624756:18,259,884...18,382,648
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|
G |
Ryr3 |
ryanodine receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624804:467,207...1,030,873
Ensembl chrNW_004624804:467,295...1,030,212
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G |
Sema3a |
semaphorin 3A |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:22927827 PMID:25741868 PMID:28492532 PMID:32870266 |
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NCBI chrNW_004624739:32,104,014...32,426,980
Ensembl chrNW_004624739:32,105,824...32,309,271
|
|
G |
Sema3e |
semaphorin 3E |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32870266 |
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NCBI chrNW_004624739:31,606,128...31,851,624
Ensembl chrNW_004624739:31,608,501...31,716,640
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G |
Sema6b |
semaphorin 6B |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624828:5,170,745...5,193,568
Ensembl chrNW_004624828:5,182,812...5,192,486
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|
G |
Sh3gl1 |
SH3 domain containing GRB2 like 1, endophilin A2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624828:5,304,887...5,330,440
Ensembl chrNW_004624828:5,305,070...5,330,440
|
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G |
Sh3gl3 |
SH3 domain containing GRB2 like 3, endophilin A3 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624768:19,168,922...19,320,366
Ensembl chrNW_004624768:19,168,951...19,321,184
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G |
Shank3 |
SH3 and multiple ankyrin repeat domains 3 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624752:72,545...127,321
Ensembl chrNW_004624752:72,615...127,325
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G |
Shd |
Src homology 2 domain containing transforming protein D |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624828:5,368,153...5,376,086
Ensembl chrNW_004624828:5,368,029...5,375,702
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G |
Sirt6 |
sirtuin 6 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624828:5,441,973...5,449,549
Ensembl chrNW_004624828:5,442,057...5,451,520
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G |
Slc5a5 |
solute carrier family 5 member 5 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624908:1,401,812...1,410,471
Ensembl chrNW_004624908:1,401,829...1,409,538
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G |
Slmap |
sarcolemma associated protein |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624821:493,902...638,553
Ensembl chrNW_004624821:493,735...639,801
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G |
Smyd3 |
SET and MYND domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624771:13,149,547...13,943,352
Ensembl chrNW_004624771:13,149,649...13,943,137
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G |
Sox2 |
SRY-box transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:28492532 PMID:32870266 |
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NCBI chrNW_004624730:59,570,879...59,573,001
Ensembl chrNW_004624730:59,570,915...59,571,871
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G |
Spry4 |
sprouty RTK signaling antagonist 4 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:23643382 PMID:24033266 PMID:28492532 PMID:32870266 |
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NCBI chrNW_004624774:1,508,315...1,523,456
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G |
Stap2 |
signal transducing adaptor family member 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624828:5,339,041...5,347,631
Ensembl chrNW_004624828:5,340,130...5,347,551
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G |
Sts |
steroid sulfatase |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624834:4,805,556...4,975,264
Ensembl chrNW_004624834:4,853,045...4,978,111
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G |
Syce1 |
synaptonemal complex central element protein 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624737:12,290,317...12,297,823
Ensembl chrNW_004624737:12,290,276...12,297,924
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G |
Tacr3 |
tachykinin receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:32870266 |
|
NCBI chrNW_004624830:4,635,987...4,704,251
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G |
Tafa3 |
TAFA chemokine like family member 3 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624772:8,495,509...8,505,585
Ensembl chrNW_004624772:8,502,094...8,505,469
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G |
Tbp |
TATA-box binding protein |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624850:6,359,382...6,375,391
Ensembl chrNW_004624850:6,359,418...6,375,391
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G |
Tjp3 |
tight junction protein 3 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624828:6,374,678...6,398,483
Ensembl chrNW_004624828:6,383,767...6,398,359
|
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G |
Tm6sf1 |
transmembrane 6 superfamily member 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624768:18,870,074...18,899,859
Ensembl chrNW_004624768:18,870,076...18,895,623
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G |
Tmem69 |
transmembrane protein 69 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624906:1,577,993...1,583,380
Ensembl chrNW_004624906:1,581,018...1,584,166
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G |
Tmigd2 |
transmembrane and immunoglobulin domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624828:5,363,038...5,367,301
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G |
Tp63 |
tumor protein p63 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624730:67,283,444...67,489,808
Ensembl chrNW_004624730:67,286,160...67,489,670
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G |
Tshz2 |
teashirt zinc finger homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624790:2,701,417...3,134,721
Ensembl chrNW_004624790:2,709,320...3,134,203
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G |
Ubxn6 |
UBX domain protein 6 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624828:5,257,960...5,265,371
Ensembl chrNW_004624828:5,258,023...5,264,989
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G |
Vldlr |
very low density lipoprotein receptor |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624736:7,280,478...7,316,897
Ensembl chrNW_004624736:7,280,490...7,316,946
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G |
Wdr11 |
WD repeat domain 11 |
|
ISO |
ClinVar Annotator: match by term: Amenorrhea |
ClinVar |
PMID:32870266 |
|
NCBI chrNW_004624737:25,762,289...25,818,161
Ensembl chrNW_004624737:25,763,023...25,818,199
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G |
Wdr37 |
WD repeat domain 37 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624775:9,768,568...9,858,085
Ensembl chrNW_004624775:9,768,397...9,857,837
|
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G |
Whamm |
WASP homolog associated with actin, golgi membranes and microtubules |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624768:18,600,592...18,623,942
Ensembl chrNW_004624768:18,600,675...18,621,693
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G |
Xpo1 |
exportin 1 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624833:375,817...424,499
Ensembl chrNW_004624833:375,820...424,499
|
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G |
Yaf2 |
YY1 associated factor 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624917:1,975,472...2,074,305
Ensembl chrNW_004624917:1,978,168...2,074,149
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G |
Yju2 |
YJU2 splicing factor homolog |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624828:5,381,387...5,397,893
Ensembl chrNW_004624828:5,381,617...5,397,782
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G |
Zbtb7a |
zinc finger and BTB domain containing 7A |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624828:5,529,351...5,548,481
Ensembl chrNW_004624828:5,530,543...5,545,902
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G |
Zfr2 |
zinc finger RNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
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NCBI chrNW_004624828:6,432,167...6,464,781
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G |
Znf217 |
zinc finger protein 217 |
|
ISO |
ClinVar Annotator: match by term: Primary amenorrhea |
ClinVar |
PMID:21681106 |
|
NCBI chrNW_004624790:2,634,571...2,668,191
Ensembl chrNW_004624790:2,655,806...2,668,499
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G |
Ccl20 |
C-C motif chemokine ligand 20 |
|
ISO |
protein:decreased expression:skin |
RGD |
PMID:17545018 |
RGD:7483603 |
NCBI chrNW_004624843:2,017,738...2,021,153
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G |
Cd8a |
CD8 subunit alpha |
|
ISO |
mRNA:decreased expression:zone of skin (human) |
RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chrNW_004624749:16,564,944...16,569,890
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G |
Ctla4 |
cytotoxic T-lymphocyte associated protein 4 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324
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G |
Foxp3 |
forkhead box P3 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679
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G |
Il10 |
interleukin 10 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
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G |
Il12b |
interleukin 12B |
treatment |
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:16114559 PMID:23754510 |
RGD:40400714 RGD:7829774 |
NCBI chrNW_004624733:30,146,050...30,156,144
Ensembl chrNW_004624733:30,146,050...30,154,589
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G |
Il2 |
interleukin 2 |
|
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453
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G |
Il21 |
interleukin 21 |
|
ISO |
protein:decreased expression:blood serum (human) |
RGD |
PMID:31414711 |
RGD:127285371 |
NCBI chrNW_004624777:3,054,368...3,061,304
Ensembl chrNW_004624777:3,054,368...3,061,304
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G |
Il4 |
interleukin 4 |
treatment |
ISO |
protein:increased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:16114559 PMID:23754510 |
RGD:40400714 RGD:7829774 |
NCBI chrNW_004624733:39,412,800...39,420,079
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G |
Il6 |
interleukin 6 |
|
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
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G |
Mapk8 |
mitogen-activated protein kinase 8 |
treatment |
ISO |
mRNA:increased expression:zone of skin (human) |
RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chrNW_004624928:1,442,216...1,494,275
Ensembl chrNW_004624928:1,439,146...1,494,266
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G |
Myd88 |
MYD88 innate immune signal transduction adaptor |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489
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G |
Pdcd1 |
programmed cell death 1 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chrNW_004624847:5,732,922...5,741,908
Ensembl chrNW_004624847:5,732,767...5,742,269
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G |
Ptpn11 |
protein tyrosine phosphatase non-receptor type 11 |
|
ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670
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G |
Ptpn6 |
protein tyrosine phosphatase non-receptor type 6 |
|
ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chrNW_004624860:3,580,225...3,595,403
Ensembl chrNW_004624860:3,580,560...3,595,090
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G |
Serpinf1 |
serpin family F member 1 |
disease_progression |
ISO |
mRNA, protein:decreased expression:skin of body (human) |
RGD |
PMID:23569025 |
RGD:27226706 |
NCBI chrNW_004624786:4,487,005...4,497,706
Ensembl chrNW_004624786:4,486,978...4,497,585
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G |
Tgfb1 |
transforming growth factor beta 1 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605
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G |
Tlr2 |
toll like receptor 2 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
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G |
Tlr3 |
toll like receptor 3 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chrNW_004624769:16,925,969...16,945,250
Ensembl chrNW_004624769:16,925,984...16,941,196
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G |
Tlr4 |
toll like receptor 4 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120
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G |
Tlr7 |
toll like receptor 7 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chrNW_004624882:1,375,216...1,379,705
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G |
Tlr8 |
toll like receptor 8 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chrNW_004624882:1,240,519...1,247,311
Ensembl chrNW_004624882:1,240,626...1,312,468
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G |
Tnf |
tumor necrosis factor |
|
ISO |
protein:increased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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G |
Tnfrsf18 |
TNF receptor superfamily member 18 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chrNW_004624818:8,376,204...8,380,266
Ensembl chrNW_004624818:8,378,131...8,379,974
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G |
Nr5a2 |
nuclear receptor subfamily 5 group A member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18628394 |
|
NCBI chrNW_004624798:356,953...494,877
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G |
Pls3 |
plastin 3 |
|
ISO |
ClinVar Annotator: match by term: Hernia, anterior diaphragmatic |
OMIM ClinVar |
PMID:25741868 PMID:37751738 |
|
NCBI chrNW_004624940:120,073...216,522
Ensembl chrNW_004624940:120,073...216,622
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G |
Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26181198 |
|
NCBI chrNW_004624926:1,189,990...1,197,220
Ensembl chrNW_004624926:1,190,072...1,196,076
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G |
Cfap251 |
cilia and flagella associated protein 251 |
|
ISO |
ClinVar Annotator: match by term: asthenozoospermia |
ClinVar |
PMID:30122541 |
|
NCBI chrNW_004624747:22,248,676...22,295,733
Ensembl chrNW_004624747:22,249,655...22,299,955
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G |
Fam83f |
family with sequence similarity 83 member F |
|
ISO |
ClinVar Annotator: match by term: asthenozoospermia |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624752:8,403,619...8,438,975
Ensembl chrNW_004624752:8,406,436...8,438,950
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G |
Plau |
plasminogen activator, urokinase |
|
ISO |
CTD Direct Evidence: marker/mechanism mRNA, protein:decreased expression:testes, epididymis (rat) |
CTD RGD |
PMID:18998460 |
RGD:7241809 |
NCBI chrNW_004624754:7,405,637...7,415,870
Ensembl chrNW_004624754:7,408,983...7,416,559
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G |
Adgrg2 |
adhesion G protein-coupled receptor G2 |
|
ISO |
ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation |
ClinVar |
PMID:25741868 PMID:27476656 |
|
NCBI chrNW_004624829:3,785,682...3,916,595
Ensembl chrNW_004624829:3,787,207...3,867,846
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G |
Cftr |
CF transmembrane conductance regulator |
|
ISO |
ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation |
OMIM ClinVar |
PMID:754013 PMID:1282016 PMID:1283148 PMID:1283149 PMID:1284466 PMID:1284477 PMID:1284534 PMID:1284538 PMID:1284540 PMID:1284639 PMID:1347644 PMID:1370365 PMID:1370875 PMID:1371265 PMID:1373935 PMID:1376016 PMID:1377276 PMID:1379210 PMID:1379413 PMID:1380673 PMID:1380689 PMID:1380943 PMID:1381146 PMID:1381442 PMID:1381723 PMID:1382316 PMID:1384321 PMID:1384328 PMID:1518030 PMID:1536179 PMID:1537190 PMID:1545465 PMID:1673094 PMID:1678049 PMID:1682496 PMID:1695717 PMID:1709778 PMID:1710599 PMID:1710600 PMID:1712898 PMID:1715308 PMID:1721624 PMID:1723032 PMID:1723056 PMID:1756602 PMID:1757965 PMID:1757966 PMID:1903761 PMID:1937486 PMID:1997384 PMID:1998343 PMID:1999830 PMID:2045102 PMID:2135388 PMID:2210767 PMID:2210768 PMID:2210769 PMID:2220803 PMID:2233932 PMID:2233965 PMID:2236053 PMID:2267887 PMID:2300168 PMID:2344617 PMID:2349952 PMID:2378364 PMID:2397487 PMID:2441227 PMID:2475911 PMID:2565038 PMID:2570460 PMID:3716676 PMID:5371902 PMID:6840743 PMID:7472820 PMID:7475569 PMID:7493947 PMID:7504969 PMID:7505690 PMID:7505694 PMID:7505767 PMID:7506096 PMID:7506605 PMID:7508414 PMID:7509310 PMID:7509564 PMID:7509683 PMID:7509684 PMID:7512860 PMID:7512993 PMID:7513293 PMID:7513889 PMID:7515303 PMID:7516234 PMID:7517264 PMID:7517267 PMID:7517268 PMID:7518829 PMID:7520798 PMID:7521710 PMID:7521937 PMID:7522211 PMID:7522329 PMID:7522901 PMID:7525450 PMID:7525963 PMID:7526685 PMID:7526928 PMID:7529319 PMID:7529962 PMID:7532150 PMID:7533604 PMID:7534040 PMID:7534226 PMID:7534748 PMID:7535742 PMID:7536669 PMID:7537147 PMID:7537148 PMID:7537150 PMID:7538127 PMID:7539080 PMID:7539342 PMID:7540133 PMID:7541274 PMID:7541510 PMID:7542347 PMID:7542778 PMID:7543317 PMID:7543385 PMID:7544319 PMID:7544320 PMID:7544788 PMID:7545856 PMID:7545869 PMID:7550227 PMID:7550243 PMID:7551394 PMID:7560099 PMID:7573058 PMID:7581407 PMID:7586569 PMID:7599637 PMID:7668304 PMID:7680378 PMID:7680525 PMID:7680769 PMID:7681034 PMID:7681035 PMID:7682196 PMID:7683628 PMID:7683952 PMID:7684641 PMID:7684644 PMID:7684646 PMID:7686423 PMID:7686577 PMID:7686820 PMID:7687986 PMID:7689008 PMID:7689009 PMID:7689013 PMID:7689897 PMID:7689902 PMID:7691344 PMID:7691345 PMID:7691356 PMID:7691813 PMID:7692051 PMID:7693946 PMID:7739684 PMID:7789957 PMID:7868128 PMID:8092189 PMID:8100293 PMID:8163293 PMID:8213163 PMID:8343799 PMID:8406518 PMID:8421472 PMID:8477260 PMID:8522333 PMID:8528204 PMID:8530001 PMID:8533846 PMID:8535440 PMID:8556303 PMID:8605891 PMID:8644755 PMID:8659542 PMID:8662892 PMID:8663008 PMID:8680406 PMID:8698344 PMID:8702904 PMID:8707304 PMID:8707306 PMID:8723695 PMID:8740923 PMID:8741733 PMID:8825494 PMID:8825927 PMID:8829633 PMID:8829643 PMID:8834261 PMID:8844211 PMID:8844213 PMID:8863168 PMID:8880589 PMID:8886242 PMID:8889582 PMID:8910333 PMID:8947061 PMID:8956039 PMID:9003498 PMID:9003508 PMID:9039981 PMID:9043501 PMID:9056552 PMID:9067754 PMID:9067761 PMID:9084934 PMID:9099843 PMID:9101293 PMID:9135274 PMID:9150159 PMID:9164051 PMID:9235853 PMID:9239681 PMID:9254853 PMID:9254864 PMID:9259194 PMID:9259197 PMID:9271620 PMID:9272157 PMID:9272738 PMID:9305991 PMID:9321772 PMID:9374552 PMID:9375855 PMID:9383031 PMID:9401006 PMID:9401110 PMID:9435322 PMID:9439669 PMID:9452048 PMID:9452054 PMID:9475107 PMID:9482579 PMID:9493456 PMID:9499426 PMID:9507391 PMID:9512029 PMID:9521595 PMID:9536098 PMID:9550361 PMID:9550362 PMID:9557894 PMID:9598638 PMID:9618063 PMID:9620832 PMID:9630075 PMID:9683582 PMID:9719631 PMID:9725922 PMID:9736775 PMID:9736778 PMID:9788722 PMID:9799593 PMID:9804160 PMID:9806422 PMID:9822639 PMID:9881185 PMID:9915972 PMID:9920885 PMID:9921909 PMID:9950364 PMID:9950763 PMID:10077727 PMID:10094564 PMID:10103316 PMID:10200050 PMID:10204861 PMID:10206682 PMID:10225950 PMID:10341008 PMID:10351951 PMID:10362539 PMID:10376575 PMID:10386624 PMID:10388469 PMID:10401194 PMID:10425036 PMID:10439967 PMID:10445602 PMID:10453741 PMID:10480369 PMID:10556281 PMID:10562297 PMID:10571949 PMID:10571955 PMID:10601093 PMID:10612827 PMID:10636451 PMID:10639207 PMID:10652351 PMID:10653141 PMID:10653145 PMID:10668931 PMID:10671057 PMID:10719683 PMID:10746558 PMID:10755189 PMID:10762539 PMID:10764788 PMID:10777364 PMID:10782933 PMID:10790220 PMID:10790222 PMID:10794365 PMID:10798368 PMID:10801389 PMID:10812063 PMID:10819640 PMID:10834512 PMID:10836331 PMID:10875853 PMID:10875876 PMID:10909845 PMID:10913957 PMID:10922395 PMID:10923036 PMID:10925568 PMID:10950058 PMID:10963013 PMID:10970190 PMID:10993719 PMID:11005149 PMID:11038458 PMID:11055897 PMID:11069835 PMID:11101688 PMID:11118444 PMID:11137998 PMID:11158459 PMID:11168024 PMID:11180668 PMID:11186891 PMID:11242048 PMID:11278813 PMID:11280952 PMID:11303517 PMID:11336401 PMID:11354633 PMID:11379874 PMID:11388756 PMID:11427889 PMID:11446424 PMID:11448786 PMID:11466205 PMID:11484207 PMID:11491162 PMID:11491164 PMID:11504857 PMID:11523757 PMID:11547256 PMID:11597353 PMID:11668613 PMID:11729110 PMID:11732487 PMID:11733566 PMID:11737931 PMID:11746017 PMID:11781704 PMID:11788090 PMID:11788611 PMID:11796434 PMID:11796591 PMID:11810271 PMID:11883825 PMID:11888281 PMID:11924117 PMID:11933191 PMID:11938353 PMID:11938439 PMID:12000363 PMID:12007216 PMID:12070257 PMID:12070264 PMID:12080183 PMID:12120234 PMID:12124706 PMID:12127423 PMID:12133923 PMID:12167682 PMID:12172395 PMID:12200467 PMID:12357328 PMID:12394343 PMID:12397022 PMID:12400067 PMID:12414835 PMID:12437773 PMID:12439892 PMID:12452372 PMID:12454843 PMID:12503104 PMID:12544470 PMID:12578973 PMID:12624947 PMID:12651858 PMID:12719375 PMID:12732620 PMID:12752573 PMID:12759680 PMID:12767731 PMID:12815607 PMID:12825076 PMID:12843327 PMID:12843337 PMID:12865275 PMID:12874665 PMID:12900515 PMID:12919146 PMID:12938099 PMID:12940920 PMID:12955726 PMID:14526128 PMID:14551163 PMID:14586256 PMID:14618962 PMID:14623323 PMID:14685259 PMID:14685937 PMID:14963811 PMID:14993601 PMID:14998948 PMID:15017334 PMID:15024729 PMID:15025720 PMID:15040442 PMID:15070876 PMID:15074370 PMID:15084222 PMID:15084988 PMID:15088804 PMID:15097853 PMID:15121783 PMID:15126740 PMID:15141088 PMID:15151509 PMID:15176679 PMID:15181619 PMID:15241793 PMID:15246977 PMID:15287992 PMID:15300780 PMID:15333598 PMID:15354332 PMID:15357566 PMID:15357568 PMID:15365999 PMID:15367919 PMID:15367921 PMID:15371902 PMID:15371903 PMID:15371907 PMID:15371908 PMID:15463888 PMID:15463898 PMID:15463907 PMID:15480987 PMID:15482777 PMID:15486385 PMID:15502086 PMID:15504721 PMID:15509635 PMID:15520400 PMID:15536480 PMID:15537723 PMID:15614862 PMID:15638824 PMID:15640323 PMID:15666307 PMID:15698945 PMID:15698946 PMID:15705292 PMID:15727251 PMID:15738290 PMID:15744523 PMID:15758663 PMID:15775704 PMID:15775760 PMID:15776432 PMID:15784035 PMID:15858154 PMID:15880796 PMID:15905293 PMID:15948195 PMID:15952991 PMID:15987793 PMID:15994263 PMID:16020494 PMID:16049310 PMID:16051530 PMID:16075239 PMID:16126774 PMID:16128988 PMID:16132229 PMID:16134171 PMID:16137181 PMID:16189704 PMID:16196493 PMID:16199547 PMID:16202790 PMID:16240056 PMID:16251901 PMID:16263954 PMID:16266832 PMID:16272798 PMID:16275171 PMID:16283068 PMID:16283887 PMID:16339147 PMID:16362824 PMID:16417523 PMID:16429425 PMID:16436643 PMID:16436646 PMID:16442101 PMID:16443646 PMID:16478680 PMID:16488363 PMID:16499810 PMID:16596947 PMID:16617247 PMID:16778407 PMID:16778595 PMID:16784904 PMID:16786510 PMID:16801189 PMID:16840743 PMID:16931591 PMID:16963320 PMID:16980811 PMID:17003641 PMID:17015492 PMID:17035430 PMID:17048214 PMID:17076271 PMID:17098482 PMID:17098864 PMID:17127107 PMID:17175965 PMID:17206681 PMID:17234733 PMID:17244607 PMID:17272608 PMID:17314234 PMID:17329263 PMID:17331079 PMID:17347447 PMID:17348320 PMID:17353351 PMID:17380060 PMID:17407485 PMID:17407489 PMID:17413420 PMID:17440499 PMID:17449517 PMID:17475917 PMID:17481968 PMID:17489851 PMID:17495464 PMID:17507277 PMID:17516627 PMID:17560176 PMID:17572159 PMID:17576681 PMID:17594398 PMID:17617039 PMID:17627383 PMID:17662673 PMID:17663888 PMID:17719933 PMID:17850636 PMID:17890437 PMID:17901983 PMID:17949679 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PMID:19885835 PMID:19897426 PMID:19910374 PMID:19910674 PMID:19914431 PMID:19914443 PMID:19925455 PMID:20021716 PMID:20052365 PMID:20059485 PMID:20100616 PMID:20116881 PMID:20163773 PMID:20167849 PMID:20186691 PMID:20217271 PMID:20233062 PMID:20301295 PMID:20301428 PMID:20381036 PMID:20416310 PMID:20435887 PMID:20448091 PMID:20460946 PMID:20510657 PMID:20522854 PMID:20538955 PMID:20551465 PMID:20580320 PMID:20595578 PMID:20619026 PMID:20628052 PMID:20651897 PMID:20659818 PMID:20667826 PMID:20687163 PMID:20691141 PMID:20696241 PMID:20705837 PMID:20706124 PMID:20717170 PMID:20722470 PMID:20797923 PMID:20837875 PMID:20846557 PMID:20849526 PMID:20865572 PMID:20880762 PMID:20923678 PMID:20932301 PMID:20932506 PMID:20949073 PMID:20974851 PMID:20976528 PMID:20977904 PMID:21083385 PMID:21097845 PMID:21111762 PMID:21131649 PMID:21152102 PMID:21184098 PMID:21198395 PMID:21228398 PMID:21296036 PMID:21354377 PMID:21411740 PMID:21416780 PMID:21429822 PMID:21474639 PMID:21483833 PMID:21486785 PMID:21507732 PMID:21514289 PMID:21520337 PMID:21538969 PMID:21594800 PMID:21636331 PMID:21642448 PMID:21658649 PMID:21679131 PMID:21708286 PMID:21716075 PMID:21779199 PMID:21783433 PMID:21796730 PMID:21811577 PMID:21858268 PMID:21907281 PMID:21909392 PMID:21931512 PMID:21965669 PMID:21976147 PMID:21983488 PMID:21996038 PMID:21998193 PMID:22020151 PMID:22043142 PMID:22047557 PMID:22094894 PMID:22103471 PMID:22138447 PMID:22148899 PMID:22156145 PMID:22293084 PMID:22299590 PMID:22310382 PMID:22318583 PMID:22324837 PMID:22326559 PMID:22332135 PMID:22366207 PMID:22369017 PMID:22390181 PMID:22395041 PMID:22423042 PMID:22427236 PMID:22442927 PMID:22449949 PMID:22468138 PMID:22483971 PMID:22504961 PMID:22545782 PMID:22569626 PMID:22572128 PMID:22573477 PMID:22591852 PMID:22627569 PMID:22658665 PMID:22664493 PMID:22678879 PMID:22680785 PMID:22698459 PMID:22724884 PMID:22768251 PMID:22842702 PMID:22892530 PMID:22942289 PMID:22973227 PMID:22975760 PMID:22981120 PMID:22992668 PMID:22995991 PMID:22999299 PMID:23000902 PMID:23017188 PMID:23027855 PMID:23065710 PMID:23067305 PMID:23076339 PMID:23082198 PMID:23089694 PMID:23104983 PMID:23168765 PMID:23206872 PMID:23240968 PMID:23261175 PMID:23276700 PMID:23286748 PMID:23302613 PMID:23313410 PMID:23343000 PMID:23361109 PMID:23378603 PMID:23379606 PMID:23381846 PMID:23405520 PMID:23420618 PMID:23436935 PMID:23466340 PMID:23503723 PMID:23514810 PMID:23523379 PMID:23590265 PMID:23613805 PMID:23620589 PMID:23628510 PMID:23656801 PMID:23666117 PMID:23670503 PMID:23687349 PMID:23688510 PMID:23709221 PMID:23751316 PMID:23757359 PMID:23757361 PMID:23765052 PMID:23775370 PMID:23781395 PMID:23810505 PMID:23820649 PMID:23837941 PMID:23857699 PMID:23883480 PMID:23891399 PMID:23907436 PMID:23924900 PMID:23933162 PMID:23951356 PMID:23953609 PMID:23974870 PMID:24019231 PMID:24033266 PMID:24066763 PMID:24081349 PMID:24082139 PMID:24106596 PMID:24129438 PMID:24204751 PMID:24225052 PMID:24243928 PMID:24269240 PMID:24375076 PMID:24388274 PMID:24412276 PMID:24418186 PMID:24419263 PMID:24433235 PMID:24435787 PMID:24440181 PMID:24440239 PMID:24451227 PMID:24461666 PMID:24525081 PMID:24559724 PMID:24586523 PMID:24631642 PMID:24633926 PMID:24696795 PMID:24697796 PMID:24727426 PMID:24762087 PMID:24784896 PMID:24813944 PMID:24816901 PMID:24958810 PMID:24973281 PMID:25024266 PMID:25033378 PMID:25042876 PMID:25049054 PMID:25060775 PMID:25066652 PMID:25077647 PMID:25087612 PMID:25122143 PMID:25133958 PMID:25145599 PMID:25148434 PMID:25171465 PMID:25192979 PMID:25203624 PMID:25251442 PMID:25266159 PMID:25274949 PMID:25287046 PMID:25304080 PMID:25311995 PMID:25326635 PMID:25330774 PMID:25333069 PMID:25363320 PMID:25383785 PMID:25443471 PMID:25452595 PMID:25473543 PMID:25489051 PMID:25492507 PMID:25525159 PMID:25553309 PMID:25580864 PMID:25583415 PMID:25608981 PMID:25636364 PMID:25651269 PMID:25667564 PMID:25674778 PMID:25682022 PMID:25688174 PMID:25697318 PMID:25697321 PMID:25698453 PMID:25704068 PMID:25732475 PMID:25735457 PMID:25741868 PMID:25741869 PMID:25755212 PMID:25763566 PMID:25781545 PMID:25797027 PMID:25799511 PMID:25824995 PMID:25826586 PMID:25867140 PMID:25869325 PMID:25880441 PMID:25900089 PMID:25905921 PMID:25910067 PMID:25940043 PMID:25963003 PMID:25981758 PMID:26003066 PMID:26006199 PMID:26014425 PMID:26070913 PMID:26075213 PMID:26087176 PMID:26095523 PMID:26098992 PMID:26135562 PMID:26146130 PMID:26149808 PMID:26160248 PMID:26182300 PMID:26199320 PMID:26208274 PMID:26277102 PMID:26282188 PMID:26324139 PMID:26348465 PMID:26354092 PMID:26364555 PMID:26429520 PMID:26436105 PMID:26437683 PMID:26467025 PMID:26471113 PMID:26474553 PMID:26493493 PMID:26494713 PMID:26500004 PMID:26526220 PMID:26553470 PMID:26568242 PMID:26574590 PMID:26581802 PMID:26618866 PMID:26627831 PMID:26631874 PMID:26648081 PMID:26651825 PMID:26683699 PMID:26708955 PMID:26755536 PMID:26795017 PMID:26800689 PMID:26823392 PMID:26826884 PMID:26846474 PMID:26847993 PMID:26856987 PMID:26900683 PMID:26911355 PMID:26946416 PMID:26948992 PMID:26976279 PMID:26989879 PMID:26990548 PMID:27022295 PMID:27026144 PMID:27081564 PMID:27086061 PMID:27131402 PMID:27143075 PMID:27145507 PMID:27158673 PMID:27171515 PMID:27174726 PMID:27209008 PMID:27214204 PMID:27222777 PMID:27264265 PMID:27298017 PMID:27334259 PMID:27347467 PMID:27364092 PMID:27447098 PMID:27449771 PMID:27469177 PMID:27577878 PMID:27625827 PMID:27659740 PMID:27660821 PMID:27665964 PMID:27673710 PMID:27707539 PMID:27728908 PMID:27738188 PMID:27745802 PMID:27773592 PMID:27805836 PMID:27812499 PMID:27837951 PMID:27870577 PMID:27895116 PMID:27898234 PMID:27917292 PMID:28027573 PMID:28040058 PMID:28129809 PMID:28152038 PMID:28163942 PMID:28185838 PMID:28194692 PMID:28196530 PMID:28261631 PMID:28325531 PMID:28366727 PMID:28371569 PMID:28392015 PMID:28408918 PMID:28419121 PMID:28440306 PMID:28456595 PMID:28465863 PMID:28492530 PMID:28492532 PMID:28502372 PMID:28544683 PMID:28546993 PMID:28603918 PMID:28606620 PMID:28608624 PMID:28611235 PMID:28617084 PMID:28646244 PMID:28651844 PMID:28655774 PMID:28711222 PMID:28736296 PMID:28771972 PMID:28785019 PMID:28800122 PMID:28801929 PMID:28830496 PMID:28863137 PMID:28930490 PMID:28944235 PMID:28947035 PMID:28968805 PMID:29040544 PMID:29099333 PMID:29099344 PMID:29126871 PMID:29133775 PMID:29168366 PMID:29173301 PMID:29174009 PMID:29178639 PMID:29208182 PMID:29216686 PMID:29261177 PMID:29271547 PMID:29279204 PMID:29292091 PMID:29298718 PMID:29318594 PMID:29327948 PMID:29360847 PMID:29431110 PMID:29451946 PMID:29484681 PMID:29497617 PMID:29503250 PMID:29504914 PMID:29520692 PMID:29581173 PMID:29589582 PMID:29590070 PMID:29614238 PMID:29668297 PMID:29669919 PMID:29685811 PMID:29750258 PMID:29754320 PMID:29779145 PMID:29805046 PMID:29807875 PMID:29859674 PMID:29884450 PMID:29924856 PMID:29936070 PMID:29944384 PMID:29983195 PMID:29997923 PMID:30019023 PMID:30022950 PMID:30030066 PMID:30046002 PMID:30081288 PMID:30089726 PMID:30134826 PMID:30146269 PMID:30230364 PMID:30232781 PMID:30244528 PMID:30279124 PMID:30293248 PMID:30297908 PMID:30348612 PMID:30389601 PMID:30420730 PMID:30444886 PMID:30487145 PMID:30488522 PMID:30540547 PMID:30548586 PMID:30561903 PMID:30592194 PMID:30600599 PMID:30602999 PMID:30606298 PMID:30609409 PMID:30698611 PMID:30726326 PMID:30758641 PMID:30760291 PMID:30763667 PMID:30811104 PMID:30842938 PMID:30845638 PMID:30851139 PMID:30873022 PMID:30888834 PMID:30930780 PMID:30938940 PMID:30992994 PMID:30993151 PMID:30996306 PMID:31005549 PMID:31016917 PMID:31019283 PMID:31028937 PMID:31029283 PMID:31036917 PMID:31118044 PMID:31126253 PMID:31130284 PMID:31180159 PMID:31187952 PMID:31199594 PMID:31213628 PMID:31245908 PMID:31268981 PMID:31310009 PMID:31328366 PMID:31331863 PMID:31350925 PMID:31447099 PMID:31450232 PMID:31508243 PMID:31523618 PMID:31589614 PMID:31655510 PMID:31665830 PMID:31672438 PMID:31674704 PMID:31682332 PMID:31740593 PMID:31759907 PMID:31776420 PMID:31788264 PMID:31788424 PMID:31808782 PMID:31845523 PMID:31872980 PMID:31883651 PMID:31900120 PMID:31916691 PMID:31978131 PMID:31980526 PMID:31990467 PMID:32003480 PMID:32020786 PMID:32113160 PMID:32126153 PMID:32150665 PMID:32172930 PMID:32204475 PMID:32220772 PMID:32265312 PMID:32281737 PMID:32357917 PMID:32414100 PMID:32429104 PMID:32483343 PMID:32484936 PMID:32512765 PMID:32539862 PMID:32628927 PMID:32630527 PMID:32662942 PMID:32674983 PMID:32687833 PMID:32734384 PMID:32761997 PMID:32773111 PMID:32777524 PMID:32784480 PMID:32819855 PMID:32906206 PMID:32934006 PMID:32935393 PMID:33020115 PMID:33083013 PMID:33097431 PMID:33118704 PMID:33144682 PMID:33195651 PMID:33260873 PMID:33270637 PMID:33296276 PMID:33322690 PMID:33341408 PMID:33365035 PMID:33374015 PMID:33375403 PMID:33393655 PMID:33424627 PMID:33468668 PMID:33470563 PMID:33495079 PMID:33512069 PMID:33567498 PMID:33572515 PMID:33574797 PMID:33613790 PMID:33686728 PMID:33713579 PMID:33771570 PMID:33781744 PMID:33836782 PMID:33855558 PMID:33883100 PMID:33922413 PMID:33946859 PMID:33972190 PMID:34086689 PMID:34099697 PMID:34134972 PMID:34140271 PMID:34145097 PMID:34163370 PMID:34190021 PMID:34196078 PMID:34405919 PMID:34426522 PMID:34442373 PMID:34525262 PMID:34583889 PMID:34740355 PMID:34764021 PMID:34782259 PMID:34814176 PMID:34860163 PMID:34888852 PMID:34949556 PMID:34974990 PMID:34996830 PMID:35008443 PMID:35109852 PMID:35273129 PMID:35313924 PMID:35418593 PMID:35451201 PMID:35527187 PMID:35585144 PMID:35626323 PMID:35652053 PMID:35698092 PMID:35816621 PMID:35858753 PMID:35913788 PMID:35934641 PMID:35997436 PMID:36207272 PMID:36249513 PMID:36264955 PMID:36272381 PMID:36319933 PMID:36372909 PMID:36409994 PMID:36437957 PMID:36458240 PMID:36567205 PMID:36604502 PMID:36670555 PMID:36717774 PMID:36751320 PMID:36828084 PMID:36969284 PMID:37006619 PMID:37274793 PMID:38388235 PMID:63921865 More...
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NCBI chrNW_004624827:1,704,733...1,893,579
|
|
|
G |
Alpk1 |
alpha kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624838:6,273,398...6,288,363
Ensembl chrNW_004624838:6,229,899...6,287,920
|
|
G |
Ank2 |
ankyrin 2 |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624838:6,490,434...7,023,945
Ensembl chrNW_004624838:6,548,159...7,023,945
|
|
G |
Ap1ar |
adaptor related protein complex 1 associated regulatory protein |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624838:6,129,073...6,157,971
Ensembl chrNW_004624838:6,129,771...6,157,962
|
|
G |
Fam241a |
family with sequence similarity 241 member A |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624838:6,036,474...6,068,772
|
|
G |
Hmgn2 |
high mobility group nucleosomal binding domain 2 |
|
ISO |
OMIM:180500 |
MouseDO |
|
|
NCBI chrNW_004624764:10,477,276...10,480,980
|
|
G |
Larp7 |
La ribonucleoprotein 7, transcriptional regulator |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624838:6,331,393...6,426,151
Ensembl chrNW_004624838:6,413,494...6,425,939
|
|
G |
Neurog2 |
neurogenin 2 |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624838:6,324,036...6,325,511
|
|
G |
Pitx2 |
paired like homeodomain 2 |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
OMIM ClinVar |
PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:11301317 PMID:11487566 PMID:12130547 PMID:12381896 PMID:12612071 PMID:15378534 PMID:15591271 PMID:15728254 PMID:15895993 PMID:16389592 PMID:16498627 PMID:16936096 PMID:17167399 PMID:17576681 PMID:18045789 PMID:18723525 PMID:19052653 PMID:19218601 PMID:19513095 PMID:20881294 PMID:22224469 PMID:22569110 PMID:24604414 PMID:25741868 PMID:26220699 PMID:28492532 PMID:28611552 PMID:28730073 PMID:29100920 PMID:29506241 PMID:29664915 PMID:30457409 PMID:31185933 PMID:31529555 PMID:32499604 PMID:33304895 PMID:33492563 PMID:35882526 More...
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|
NCBI chrNW_004624838:4,872,279...4,889,780
Ensembl chrNW_004624838:4,871,511...4,886,384
|
|
G |
Prdm5 |
PR/SET domain 5 |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:26489929 |
|
NCBI chrNW_004624777:675,215...893,125
Ensembl chrNW_004624777:676,965...893,047
|
|
G |
Tifa |
TRAF interacting protein with forkhead associated domain |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624838:6,160,712...6,167,408
|
|
|
G |
Alb |
albumin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:27289041 |
|
NCBI chrNW_004624735:34,105,237...34,123,479
Ensembl chrNW_004624735:34,104,537...34,123,624
|
|
G |
Bcl2 |
BCL2 apoptosis regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20610805 |
|
NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344
|
|
G |
Brdt |
bromodomain testis associated |
susceptibility |
ISO |
DNA:SNP: :rs3088232(human) protein:decreased expression:testis: |
RGD |
PMID:22016351 PMID:22035730 |
RGD:9586359 RGD:9586360 |
NCBI chrNW_004624742:5,730,805...5,798,731
Ensembl chrNW_004624742:5,727,939...5,798,809
|
|
G |
Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
|
ISO |
|
RGD |
PMID:25934999 |
RGD:11085488 |
NCBI chrNW_004624926:1,189,990...1,197,220
Ensembl chrNW_004624926:1,190,072...1,196,076
|
|
G |
Cftr |
CF transmembrane conductance regulator |
|
ISO |
ClinVar Annotator: match by term: Obstructive azoospermia |
ClinVar |
PMID:1283148 PMID:1284534 PMID:1284535 PMID:1284639 PMID:1370875 PMID:1377276 PMID:1379210 PMID:1379413 PMID:1380673 PMID:1381146 PMID:1381723 PMID:1384321 PMID:1384326 PMID:1536179 PMID:1673094 PMID:1695717 PMID:1715308 PMID:1723032 PMID:1756602 PMID:1937486 PMID:1977306 PMID:1997384 PMID:2210767 PMID:2220803 PMID:2233932 PMID:2236053 PMID:2300168 PMID:2344617 PMID:2349952 PMID:2378364 PMID:2475911 PMID:2570460 PMID:7506096 PMID:7508183 PMID:7508414 PMID:7509564 PMID:7509683 PMID:7512860 PMID:7517267 PMID:7522329 PMID:7524913 PMID:7529319 PMID:7533604 PMID:7537148 PMID:7539342 PMID:7540133 PMID:7544320 PMID:7544788 PMID:7560099 PMID:7573058 PMID:7586569 PMID:7599637 PMID:7680769 PMID:7682884 PMID:7683628 PMID:7684641 PMID:7684646 PMID:7686336 PMID:7689013 PMID:7691345 PMID:7691356 PMID:7691813 PMID:7692051 PMID:7739684 PMID:7789957 PMID:8092189 PMID:8421472 PMID:8556303 PMID:8605891 PMID:8659542 PMID:8662892 PMID:8698344 PMID:8702904 PMID:8740923 PMID:8825927 PMID:8844211 PMID:8886242 PMID:8956039 PMID:8968585 PMID:9108869 PMID:9135274 PMID:9235853 PMID:9259194 PMID:9259197 PMID:9272157 PMID:9272738 PMID:9435322 PMID:9439669 PMID:9459534 PMID:9493456 PMID:9536098 PMID:9550361 PMID:9557894 PMID:9618063 PMID:9725922 PMID:9788722 PMID:9804160 PMID:9921909 PMID:9950763 PMID:10103316 PMID:10341008 PMID:10425036 PMID:10556281 PMID:10571949 PMID:10601093 PMID:10653141 PMID:10668931 PMID:10746558 PMID:10782933 PMID:10801389 PMID:10812063 PMID:10869121 PMID:10875853 PMID:10909845 PMID:10923036 PMID:10950058 PMID:10963013 PMID:11069835 PMID:11168024 PMID:11180668 PMID:11186891 PMID:11242048 PMID:11280952 PMID:11303517 PMID:11354633 PMID:11484207 PMID:11491164 PMID:11504857 PMID:11547256 PMID:11729110 PMID:11733566 PMID:11737931 PMID:11746017 PMID:11788090 PMID:11883825 PMID:11924117 PMID:12007216 PMID:12014388 PMID:12124706 PMID:12133923 PMID:12167682 PMID:12400067 PMID:12767731 PMID:12955726 PMID:14618962 PMID:14685937 PMID:14963811 PMID:14993601 PMID:15070876 PMID:15097853 PMID:15141088 PMID:15246977 PMID:15365999 PMID:15367919 PMID:15371902 PMID:15482777 PMID:15486385 PMID:15536480 PMID:15618592 PMID:15619635 PMID:15640323 PMID:15727251 PMID:15775704 PMID:15857421 PMID:15858154 PMID:15880796 PMID:15905293 PMID:15952991 PMID:15987793 PMID:16020494 PMID:16049310 PMID:16075239 PMID:16126774 PMID:16134171 PMID:16189704 PMID:16263954 PMID:16266832 PMID:16283887 PMID:16429425 PMID:16436643 PMID:16478680 PMID:16481891 PMID:16484308 PMID:16778595 PMID:16801189 PMID:16840743 PMID:17003641 PMID:17015492 PMID:17035430 PMID:17048214 PMID:17175965 PMID:17206681 PMID:17314234 PMID:17329263 PMID:17407485 PMID:17413420 PMID:17489851 PMID:17572159 PMID:17576681 PMID:17594397 PMID:17594398 PMID:17617039 PMID:17627383 PMID:17662673 PMID:17681820 PMID:17719933 PMID:18078365 PMID:18178635 PMID:18180206 PMID:18234567 PMID:18301294 PMID:18394117 PMID:18456578 PMID:18467194 PMID:18501000 PMID:18507830 PMID:18567645 PMID:18685558 PMID:18687795 PMID:18778819 PMID:18796364 PMID:18951463 PMID:19014055 PMID:19092437 PMID:19092444 PMID:19176844 PMID:19202204 PMID:19212293 PMID:19227414 PMID:19318035 PMID:19406970 PMID:19459534 PMID:19707853 PMID:19812525 PMID:19833837 PMID:19837664 PMID:19843100 PMID:19878303 PMID:19880712 PMID:19885835 PMID:19897426 PMID:19925455 PMID:20021716 PMID:20059485 PMID:20116881 PMID:20301295 PMID:20301428 PMID:20460946 PMID:20580320 PMID:20595578 PMID:20619026 PMID:20628052 PMID:20667826 PMID:20687163 PMID:20691141 PMID:20696241 PMID:20705837 PMID:20706124 PMID:20717170 PMID:20797923 PMID:20837875 PMID:20849526 PMID:20923678 PMID:20977904 PMID:21097845 PMID:21111762 PMID:21131649 PMID:21152102 PMID:21198395 PMID:21228398 PMID:21296036 PMID:21411740 PMID:21416780 PMID:21486785 PMID:21507732 PMID:21520337 PMID:21538969 PMID:21594800 PMID:21658649 PMID:21679131 PMID:21804385 PMID:21907281 PMID:21965669 PMID:21976147 PMID:21983488 PMID:22020151 PMID:22156145 PMID:22310382 PMID:22332135 PMID:22366207 PMID:22369017 PMID:22390181 PMID:22427236 PMID:22449949 PMID:22569626 PMID:22572128 PMID:22591852 PMID:22658665 PMID:22664493 PMID:22680785 PMID:22842702 PMID:22975760 PMID:22981120 PMID:22992668 PMID:22999299 PMID:23067305 PMID:23082198 PMID:23104983 PMID:23168765 PMID:23361109 PMID:23378603 PMID:23379606 PMID:23381846 PMID:23420618 PMID:23436935 PMID:23613805 PMID:23656801 PMID:23716676 PMID:23721890 PMID:23751316 PMID:23781395 PMID:23810505 PMID:23846440 PMID:23857699 PMID:23883480 PMID:23891399 PMID:23907436 PMID:23951356 PMID:23974870 PMID:24033266 PMID:24082139 PMID:24106596 PMID:24375076 PMID:24418186 PMID:24419263 PMID:24433235 PMID:24435787 PMID:24440181 PMID:24451227 PMID:24559724 PMID:24586523 PMID:24631642 PMID:24696795 PMID:24727426 PMID:24958810 PMID:24973281 PMID:25033378 PMID:25042876 PMID:25087612 PMID:25148434 PMID:25251442 PMID:25287046 PMID:25304080 PMID:25330774 PMID:25583415 PMID:25608981 PMID:25636364 PMID:25697321 PMID:25698453 PMID:25735457 PMID:25741868 PMID:25741869 PMID:25763566 PMID:25797027 PMID:25799511 PMID:25824995 PMID:25826586 PMID:25910067 PMID:25981758 PMID:26006199 PMID:26014425 PMID:26070913 PMID:26095523 PMID:26149808 PMID:26277102 PMID:26324139 PMID:26467025 PMID:26526220 PMID:26538069 PMID:26574590 PMID:26581802 PMID:26618866 PMID:26627831 PMID:26648081 PMID:26708955 PMID:26755536 PMID:26800689 PMID:26846474 PMID:26900683 PMID:26911355 PMID:26976279 PMID:26989879 PMID:26990548 PMID:27022295 PMID:27086061 PMID:27171515 PMID:27209008 PMID:27214204 PMID:27298017 PMID:27334259 PMID:27364092 PMID:27447098 PMID:27469177 PMID:27577878 PMID:27659740 PMID:27660821 PMID:27673710 PMID:27738188 PMID:27805836 PMID:27898234 PMID:28129809 PMID:28325531 PMID:28419121 PMID:28456595 PMID:28492530 PMID:28492532 PMID:28544683 PMID:28546993 PMID:28603918 PMID:28606620 PMID:28617084 PMID:28655774 PMID:28736296 PMID:28801929 PMID:28930490 PMID:28968805 PMID:29099333 PMID:29099344 PMID:29126871 PMID:29261177 PMID:29327948 PMID:29431110 PMID:29451946 PMID:29504914 PMID:29589582 PMID:29614238 PMID:29668297 PMID:29805046 PMID:29936070 PMID:29944384 PMID:30030066 PMID:30046002 PMID:30089726 PMID:30279124 PMID:30487145 PMID:30561903 PMID:30600599 PMID:30602999 PMID:30609409 PMID:30888834 PMID:30930780 PMID:30938940 PMID:31019283 PMID:31028937 PMID:31036917 PMID:31126253 PMID:31130284 PMID:31187952 PMID:31199594 PMID:31213628 PMID:31310009 PMID:31447099 PMID:31523618 PMID:31589614 PMID:31655510 PMID:31776420 PMID:31788424 PMID:31808782 PMID:31980526 PMID:32414100 PMID:32429104 PMID:32761997 PMID:32935393 PMID:33020115 PMID:33083013 PMID:33118704 PMID:33144682 PMID:33270637 PMID:33365035 PMID:33374015 PMID:33572515 PMID:33574797 PMID:33713579 PMID:33972190 PMID:34190021 PMID:34196078 PMID:34405919 PMID:34426522 PMID:34782259 PMID:34996830 PMID:35690514 PMID:36272381 More...
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NCBI chrNW_004624827:1,704,733...1,893,579
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G |
CUNH14orf39 |
chromosome unknown C14orf39 homolog |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
PMID:33508233 |
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NCBI chrNW_004624734:40,656,054...40,701,404
Ensembl chrNW_004624734:40,656,132...40,702,148
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G |
Ddx25 |
DEAD-box helicase 25 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chrNW_004624812:53,129...74,073
Ensembl chrNW_004624812:52,368...74,149
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G |
Dmc1 |
DNA meiotic recombinase 1 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chrNW_004624752:9,547,327...9,585,549
Ensembl chrNW_004624752:9,548,015...9,585,958
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G |
Epas1 |
endothelial PAS domain protein 1 |
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ISO |
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RGD |
PMID:14608355 |
RGD:734934 |
NCBI chrNW_004624738:27,747,770...27,831,213
Ensembl chrNW_004624738:27,747,696...27,834,054
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G |
Ercc1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
susceptibility |
ISO |
DNA:snp:3' utr:c.8092C>A (human) |
RGD |
PMID:18616887 |
RGD:13207429 |
NCBI chrNW_004624907:2,288,380...2,298,909
Ensembl chrNW_004624907:2,288,423...2,298,373
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G |
Fahd1 |
fumarylacetoacetate hydrolase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chrNW_004624913:432,780...434,359
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G |
Fancm |
FA complementation group M |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
PMID:17289582 PMID:18174376 PMID:19379763 PMID:23409019 PMID:23932590 PMID:24003026 PMID:25741868 PMID:26130695 PMID:26467025 PMID:28492532 PMID:28591191 PMID:28702895 PMID:28837162 PMID:29287190 PMID:30075111 PMID:30426508 PMID:30927251 PMID:31700994 PMID:31991861 PMID:32235514 PMID:33036707 PMID:33118316 PMID:33471991 PMID:34117267 More...
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NCBI chrNW_004624731:23,342,313...23,391,877
Ensembl chrNW_004624731:23,340,460...23,392,040
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G |
Gcna |
germ cell nuclear acidic peptidase |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
PMID:35172124 |
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NCBI chrNW_004624903:1,914,124...1,954,710
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G |
Gopc |
golgi associated PDZ and coiled-coil motif containing |
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ISO |
OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842 |
MouseDO |
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NCBI chrNW_004624798:12,188,460...12,216,542
Ensembl chrNW_004624798:12,188,635...12,218,305
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G |
Henmt1 |
HEN methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chrNW_004624772:4,452,320...4,470,097
Ensembl chrNW_004624772:4,456,917...4,470,558
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G |
Hfm1 |
helicase for meiosis 1 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chrNW_004624742:6,394,790...6,513,601
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G |
Hsd17b10 |
hydroxysteroid 17-beta dehydrogenase 10 |
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ISO |
mRNA:increased expression:testis |
RGD |
PMID:9851691 |
RGD:13792783 |
NCBI chrNW_004624909:681,731...684,130
Ensembl chrNW_004624909:681,731...684,237
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G |
Kash5 |
KASH domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chrNW_004624832:4,783,593...4,806,025
Ensembl chrNW_004624832:4,783,766...4,803,325
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G |
Mcm8 |
minichromosome maintenance 8 homologous recombination repair factor |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chrNW_004624741:6,787,555...6,826,033
Ensembl chrNW_004624741:6,787,578...6,827,188
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G |
Mcmdc2 |
minichromosome maintenance domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chrNW_004624744:24,422,656...24,483,365
Ensembl chrNW_004624744:24,425,515...24,471,470
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G |
Meiob |
meiosis specific with OB-fold |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chrNW_004624913:389,772...426,196
Ensembl chrNW_004624913:394,154...426,196
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G |
Mov10l1 |
Mov10 like RNA helicase 1 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chrNW_004624752:580,580...651,209
Ensembl chrNW_004624752:580,155...651,000
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G |
Msh5 |
mutS homolog 5 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chrNW_004624754:24,453,750...24,477,574
Ensembl chrNW_004624754:24,453,902...24,473,051
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G |
Pdha2 |
pyruvate dehydrogenase E1 subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
PMID:29581481 PMID:35172124 |
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NCBI chrNW_004624757:23,806,964...23,808,605
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G |
Rec8 |
REC8 meiotic recombination protein |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chrNW_004624820:8,361,345...8,369,356
Ensembl chrNW_004624820:8,361,400...8,368,347
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G |
Sycp3 |
synaptonemal complex protein 3 |
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ISO |
OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842 CTD Direct Evidence: marker/mechanism |
MouseDO CTD |
PMID:14643120 |
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NCBI chrNW_004624750:6,345,112...6,358,724
Ensembl chrNW_004624750:6,349,400...6,358,180
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G |
Tdrd9 |
tudor domain containing 9 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chrNW_004624734:971,174...1,067,178
Ensembl chrNW_004624734:971,695...1,067,121
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G |
Tdrkh |
tudor and KH domain containing |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chrNW_004624772:19,447,092...19,463,796
Ensembl chrNW_004624772:19,444,049...19,463,788
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G |
Terb1 |
telomere repeat binding bouquet formation protein 1 |
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ISO |
ClinVar Annotator: match by term: Azoospermia |
ClinVar |
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NCBI chrNW_004624746:19,689,127...19,726,972
Ensembl chrNW_004624746:19,697,909...19,720,724
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G |
Cldn2 |
claudin 2 |
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ISO |
ClinVar Annotator: match by term: Azoospermia, obstructive, with nephrolithiasis |
OMIM ClinVar |
PMID:31320686 |
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NCBI chrNW_004624803:9,839,916...9,849,891
Ensembl chrNW_004624803:9,839,911...9,846,367
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G |
Mbl2 |
mannose binding lectin 2 |
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ISO |
DNA:SNP:cds: |
RGD |
PMID:17470593 |
RGD:8693700 |
NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
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G |
Foxl2 |
forkhead box L2 |
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ISO |
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1 |
ClinVar |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12567411 PMID:12630957 PMID:12938087 PMID:16219626 PMID:17089161 PMID:17277738 PMID:18372316 PMID:21325395 PMID:25741868 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:33538981 More...
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NCBI chrNW_004624730:15,489,261...15,492,645
Ensembl chrNW_004624730:15,490,664...15,491,800
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G |
Birc2 |
baculoviral IAP repeat containing 2 |
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ISO |
mRNA:increased expression:perianal skin (human) |
RGD |
PMID:20346172 |
RGD:152998971 |
NCBI chrNW_004624878:476,460...514,637
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G |
Birc3 |
baculoviral IAP repeat containing 3 |
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ISO |
mRNA:increased expression:perianal skin (human) |
RGD |
PMID:20346172 |
RGD:152998971 |
NCBI chrNW_004624878:516,750...541,475
Ensembl chrNW_004624878:523,300...536,062
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G |
Casq2 |
calsequestrin 2 |
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ISO |
ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532 |
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NCBI chrNW_004624772:11,458,994...11,521,809
Ensembl chrNW_004624772:11,456,554...11,521,939
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G |
Cdx2 |
caudal type homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Sirenomelia |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004624776:10,551,503...10,556,987
Ensembl chrNW_004624776:10,551,503...10,556,845
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G |
Pcsk5 |
proprotein convertase subtilisin/kexin type 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18519639 |
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NCBI chrNW_004624811:3,453,218...3,862,970
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G |
Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Agenesis of sacrum |
ClinVar |
PMID:18564 PMID:9497245 PMID:10484775 PMID:11575529 PMID:12059893 PMID:12220451 PMID:12434264 PMID:15731587 PMID:16084090 PMID:16163667 PMID:16244001 PMID:16835904 PMID:16917943 PMID:17081152 PMID:18505122 PMID:19648156 PMID:19919814 PMID:21118704 PMID:21514828 PMID:22696611 PMID:23558838 PMID:23919265 PMID:24033266 PMID:24433488 PMID:25268394 PMID:25558065 PMID:25735680 PMID:25741868 PMID:25960145 PMID:27586648 PMID:28492532 PMID:30236257 PMID:31206373 PMID:31559918 More...
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NCBI chrNW_004624794:11,888,211...12,004,457
Ensembl chrNW_004624794:11,888,289...12,004,314
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Vangl1 |
VANGL planar cell polarity protein 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele |
OMIM ClinVar |
PMID:17409324 PMID:19319979 PMID:22892949 PMID:24033266 PMID:24307374 PMID:24407469 PMID:24452931 PMID:24838524 PMID:25068569 PMID:25208524 PMID:25741868 PMID:26196381 PMID:28492532 More...
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NCBI chrNW_004624772:11,401,277...11,453,870
Ensembl chrNW_004624772:11,401,660...11,448,569
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Zbtb16 |
zinc finger and BTB domain containing 16 |
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ISO |
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RGD |
PMID:27727328 |
RGD:40924666 |
NCBI chrNW_004624784:9,545,529...9,726,960
Ensembl chrNW_004624784:9,546,509...9,726,960
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G |
Spink1 |
serine peptidase inhibitor Kazal type 1 |
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ISO |
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RGD |
PMID:2258083 |
RGD:2300391 |
NCBI chrNW_004624774:7,281,298...7,287,735
Ensembl chrNW_004624774:7,281,227...7,287,791
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G |
Tfrc |
transferrin receptor |
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ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:9739406 |
RGD:2292022 |
NCBI chrNW_004624730:61,282,650...61,313,487
Ensembl chrNW_004624730:61,285,334...61,313,550
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Tp53 |
tumor protein p53 |
disease_progression |
ISO |
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RGD |
PMID:17354237 |
RGD:2298527 |
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
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G |
Apex1 |
apurinic/apyrimidinic endodeoxyribonuclease 1 |
|
ISO |
DNA:polymorphism: :p.D148E (human) |
RGD |
PMID:18503157 PMID:19292061 |
RGD:2315657 RGD:2315662 |
NCBI chrNW_004624825:4,711,921...4,714,926
Ensembl chrNW_004624825:4,708,093...4,714,921
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Api5 |
apoptosis inhibitor 5 |
disease_progression |
ISO |
mRNA:increased expression |
RGD |
PMID:10780674 |
RGD:1643340 |
NCBI chrNW_004624767:4,591,562...4,614,365
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G |
Bcl2l1 |
BCL2 like 1 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:17311011 |
RGD:1643476 |
NCBI chrNW_004624741:788,445...838,513
Ensembl chrNW_004624741:789,355...839,507
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G |
Birc2 |
baculoviral IAP repeat containing 2 |
|
ISO |
mRNA:decreased expression:uterine cervix |
RGD |
PMID:16504151 |
RGD:1643527 |
NCBI chrNW_004624878:476,460...514,637
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G |
Brca1 |
BRCA1 DNA repair associated |
disease_progression |
ISO |
DNA:hypermethylation:promoter |
RGD |
PMID:12773202 |
RGD:2298941 |
NCBI chrNW_004624795:1,186,043...1,238,986
Ensembl chrNW_004624795:1,188,136...1,241,964
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Brip1 |
BRCA1 interacting DNA helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Cervical cancer |
ClinVar |
PMID:18483852 PMID:25741868 PMID:26467025 PMID:26790966 PMID:28492532 PMID:31214711 PMID:32566746 More...
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NCBI chrNW_004624871:2,051,044...2,195,364
Ensembl chrNW_004624871:2,052,863...2,198,165
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G |
Bsg |
basigin (Ok blood group) |
disease_progression |
ISO |
|
RGD |
PMID:18223224 |
RGD:2296028 |
NCBI chrNW_004624828:7,913,297...7,920,891
Ensembl chrNW_004624828:7,913,099...7,920,804
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G |
Cd55 |
CD55 molecule (Cromer blood group) |
|
ISO |
|
RGD |
PMID:9358772 |
RGD:2293549 |
NCBI chrNW_004624807:4,252,676...4,274,828
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G |
Cdc25a |
cell division cycle 25A |
|
ISO |
|
RGD |
PMID:18299147 |
RGD:2296067 |
NCBI chrNW_004624730:73,443,895...73,463,979
Ensembl chrNW_004624730:73,443,731...73,464,486
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G |
Cdc25c |
cell division cycle 25C |
|
ISO |
|
RGD |
PMID:15289842 |
RGD:4105450 |
NCBI chrNW_004624743:31,099,320...31,123,808
Ensembl chrNW_004624743:31,099,268...31,124,262
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G |
Cdh13 |
cadherin 13 |
|
ISO |
DNA:hypermethylation:promoter |
RGD |
PMID:17548682 |
RGD:2293543 |
NCBI chrNW_004624746:3,696,608...4,759,693
Ensembl chrNW_004624746:3,698,196...4,759,442
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G |
Cdk1 |
cyclin dependent kinase 1 |
|
ISO |
|
RGD |
PMID:18299147 |
RGD:2296067 |
NCBI chrNW_004624791:2,891,239...2,915,001
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G |
Ebag9 |
estrogen receptor binding site associated antigen 9 |
disease_progression |
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:16112176 |
RGD:2289851 |
NCBI chrNW_004624763:8,621,666...8,649,109
Ensembl chrNW_004624763:8,621,638...8,650,016
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G |
Erbb4 |
erb-b2 receptor tyrosine kinase 4 |
|
ISO |
protein:increased expression: uterine cervix, cytoplasm |
RGD |
PMID:28042953 |
RGD:126790468 |
NCBI chrNW_004624765:3,612,781...4,742,219
Ensembl chrNW_004624765:3,613,379...4,734,585
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G |
Fanca |
FA complementation group A |
no_association |
ISO |
DNA:SNP: :rs11649196 (human) DNA:SNPs, haplotypes: :[rs2239359, rs7190823, rs7195066 (human) |
RGD |
PMID:19012493 PMID:21543111 |
RGD:11344886 RGD:11344901 |
NCBI chrNW_004624746:206,069...253,473
Ensembl chrNW_004624746:215,193...252,569
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Cancer of cervix | ClinVar Annotator: match by term: Cervical cancer | ClinVar Annotator: match by term: Cervix cancer |
ClinVar |
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:36135330 PMID:36474027 More...
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NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932
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G |
Hnrnpc |
heterogeneous nuclear ribonucleoprotein C |
|
ISO |
protein:increased expression:cervical epithelium (human) |
RGD |
PMID:19319956 |
RGD:10054394 |
NCBI chrNW_004624825:7,198,387...7,276,936
Ensembl chrNW_004624825:7,205,292...7,276,889
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G |
Hoxb13 |
homeobox B13 |
|
ISO |
mRNA:increased expression:uterine cervix |
RGD |
PMID:16803519 |
RGD:2314728 |
NCBI chrNW_004624795:5,198,805...5,201,079
Ensembl chrNW_004624795:5,198,751...5,200,961
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G |
Hspa8 |
heat shock protein family A (Hsp70) member 8 |
|
ISO |
Protein: increased expression |
RGD |
PMID:21137014 |
RGD:6218976 |
NCBI chrNW_004624880:2,070,410...2,075,069
Ensembl chrNW_004624880:2,070,523...2,079,421
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G |
Il10 |
interleukin 10 |
disease_progression |
ISO |
protein:increased expression:serum |
RGD |
PMID:9541628 |
RGD:2317658 |
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
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G |
Il1b |
interleukin 1 beta |
susceptibility |
ISO |
associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) |
RGD |
PMID:25893807 |
RGD:36174015 |
NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
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G |
Kdm3a |
lysine demethylase 3A |
severity |
ISO |
human gene in a mouse model |
RGD |
PMID:23492365 |
RGD:9590219 |
NCBI chrNW_004624749:16,784,538...16,829,784
Ensembl chrNW_004624749:16,784,538...16,829,365
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G |
Kmt2a |
lysine methyltransferase 2A |
|
ISO |
human gene in a mouse model |
RGD |
PMID:22926525 |
RGD:9588221 |
NCBI chrNW_004624784:13,824,507...13,912,672
Ensembl chrNW_004624784:13,824,541...13,908,077
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G |
Kmt2e |
lysine methyltransferase 2E (inactive) |
|
ISO |
human gene in a mouse model |
RGD |
PMID:25172963 |
RGD:9588553 |
NCBI chrNW_004624739:24,371,415...24,476,245
Ensembl chrNW_004624739:24,372,237...24,476,137
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G |
LOC101697345 |
HLA class II histocompatibility antigen, DP beta 1 chain |
susceptibility |
ISO |
DNA:polymorphism: :HLA-DPB1*1301 (human) |
RGD |
PMID:17349874 |
RGD:150429811 |
NCBI chrNW_004624754:23,661,031...23,672,549
Ensembl chrNW_004624754:23,658,339...23,672,663
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G |
LOC101703821 |
HLA class II histocompatibility antigen, DQ beta 1 chain |
susceptibility |
ISO |
associated with Papillomavirus Infections;DNA:polymorphism: :HLA-DQB1 G > A (rs6457617)(human) DNA:polymorphisms::HLA-DQB1*050201, DQB1*060101, DQB1*0602(human) |
RGD |
PMID:16425277 PMID:25893807 |
RGD:36174015 RGD:36174023 |
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
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G |
Macc1 |
MET transcriptional regulator MACC1 |
|
ISO |
mRNA:increased expression:cervical region (human) |
RGD |
PMID:33603486 |
RGD:152999025 |
NCBI chrNW_004624739:10,387,745...10,467,384
Ensembl chrNW_004624739:10,435,761...10,467,543
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G |
Map2k3 |
mitogen-activated protein kinase kinase 3 |
treatment |
ISO |
|
RGD |
PMID:20980434 |
RGD:7495806 |
NCBI chrNW_004624849:5,007,185...5,034,488
Ensembl chrNW_004624849:5,006,513...5,035,747
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G |
Map2k6 |
mitogen-activated protein kinase kinase 6 |
|
ISO |
|
RGD |
PMID:20980434 |
RGD:7495806 |
NCBI chrNW_004624870:4,224,108...4,420,217
Ensembl chrNW_004624870:4,287,835...4,416,559
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G |
Mdc1 |
mediator of DNA damage checkpoint 1 |
|
ISO |
mRNA, protein:increased expression:uterine cervix (human) |
RGD |
PMID:21853275 |
RGD:9589052 |
NCBI chrNW_004624754:25,007,866...25,020,950
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G |
Med4 |
mediator complex subunit 4 |
severity |
ISO |
mRNA:decreased expression:uterine cervix (human) |
RGD |
PMID:19911042 |
RGD:12880436 |
NCBI chrNW_004624748:6,770,231...6,790,385
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G |
Mmp1 |
matrix metallopeptidase 1 |
disease_progression |
ISO |
DNA:insertion:promoter:g.-1607insG (human) |
RGD |
PMID:14550952 |
RGD:7207024 |
NCBI chrNW_004624878:71,642...79,660
Ensembl chrNW_004624878:71,642...79,602
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G |
Mmp13 |
matrix metallopeptidase 13 |
|
ISO |
mRNA:increased expression:uterine cervix |
RGD |
PMID:17243165 |
RGD:2306082 |
NCBI chrNW_004624918:2,228,688...2,239,852
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G |
Mthfr |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
DNA:missense mutation:cds:g.1298A>C (human) |
RGD |
PMID:27771518 |
RGD:38501051 |
NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168
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G |
Ndufs6 |
NADH:ubiquinone oxidoreductase subunit S6 |
disease_progression |
ISO |
DNA, mRNA:amplification, increased expression:uterine cervix |
RGD |
PMID:18559093 |
RGD:2302384 |
NCBI chrNW_004624751:873,575...880,266
Ensembl chrNW_004624751:873,599...880,266
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G |
Nras |
NRAS proto-oncogene, GTPase |
|
ISO |
mRNA:increased expression:uterine cervix |
RGD |
PMID:14984964 |
RGD:2314838 |
NCBI chrNW_004624772:10,358,554...10,369,371
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G |
Pgm3 |
phosphoglucomutase 3 |
|
ISO |
|
RGD |
PMID:508567 |
RGD:2299870 |
NCBI chrNW_004624799:11,395,465...11,423,878
Ensembl chrNW_004624799:11,395,615...11,423,876
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G |
Prkn |
parkin RBR E3 ubiquitin protein ligase |
disease_progression |
ISO |
protein:decreased expression:uterine cervix (human) |
RGD |
PMID:28631565 |
RGD:13432557 |
NCBI chrNW_004624855:430,148...1,992,121
Ensembl chrNW_004624855:430,260...1,989,747
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G |
Ptk2 |
protein tyrosine kinase 2 |
disease_progression |
ISO |
|
RGD |
PMID:16638855 |
RGD:2292556 |
NCBI chrNW_004624735:15,356,911...15,713,219
Ensembl chrNW_004624735:15,461,178...15,714,071
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G |
Ptpn11 |
protein tyrosine phosphatase non-receptor type 11 |
|
ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670
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G |
Ptpn6 |
protein tyrosine phosphatase non-receptor type 6 |
|
ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chrNW_004624860:3,580,225...3,595,403
Ensembl chrNW_004624860:3,580,560...3,595,090
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G |
Rassf1 |
Ras association domain family member 1 |
|
ISO |
associated with Papillomavirus Infections;DNA:hypermethylation:promoter |
RGD |
PMID:18608185 |
RGD:2299861 |
NCBI chrNW_004624730:4,181,207...4,190,603
Ensembl chrNW_004624730:4,181,462...4,190,431
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G |
Sf3b4 |
splicing factor 3b subunit 4 |
severity |
ISO |
mRNA, protein:increased expression:cervix (human) human cells in mouse model |
RGD |
PMID:35853859 |
RGD:155882439 |
NCBI chrNW_004624772:17,701,930...17,706,613
Ensembl chrNW_004624772:17,701,341...17,706,550
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G |
Smad2 |
SMAD family member 2 |
|
ISO |
DNA, mRNA:insertion, deletion, decreased expression:uterine cervix |
RGD |
PMID:12894231 |
RGD:2299968 |
NCBI chrNW_004624778:11,380,656...11,460,566
Ensembl chrNW_004624778:11,384,769...11,501,078
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G |
Smad4 |
SMAD family member 4 |
|
ISO |
mRNA:decreased expression:uterine cervix |
RGD |
PMID:12894231 |
RGD:2299968 |
NCBI chrNW_004624778:14,570,025...14,629,950
Ensembl chrNW_004624778:14,570,348...14,630,325
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G |
Sos1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
|
ISO |
mRNA:increased expression:cervix epithelium (human) |
RGD |
PMID:27581326 |
RGD:13441596 |
NCBI chrNW_004624738:20,466,120...20,591,966
Ensembl chrNW_004624738:20,466,117...20,591,910
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G |
Spag5 |
sperm associated antigen 5 |
severity |
ISO |
mRNA, protein:increased expression:cervix (human) |
RGD |
PMID:35853859 |
RGD:155882439 |
NCBI chrNW_004624786:1,163,350...1,183,071
Ensembl chrNW_004624786:1,163,606...1,182,764
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G |
Tap1 |
transporter 1, ATP binding cassette subfamily B member |
susceptibility |
ISO |
DNA:SNPs: : |
RGD |
PMID:12648582 PMID:18248301 |
RGD:6482260 RGD:6482272 |
NCBI chrNW_004624754:23,815,464...23,822,480
Ensembl chrNW_004624754:23,815,915...23,822,827
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G |
Tap2 |
transporter 2, ATP binding cassette subfamily B member |
susceptibility |
ISO |
DNA:SNPs: : |
RGD |
PMID:12648582 PMID:18248301 |
RGD:6482260 RGD:6482272 |
NCBI chrNW_004624754:23,827,782...23,845,690
Ensembl chrNW_004624754:23,827,706...23,837,356
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G |
Timp4 |
TIMP metallopeptidase inhibitor 4 |
disease_progression |
ISO |
mRNA:increased expression:uterine cervix |
RGD |
PMID:15816637 |
RGD:2290434 |
NCBI chrNW_004624956:331,275...341,561
Ensembl chrNW_004624956:330,327...337,299
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G |
Tnf |
tumor necrosis factor |
susceptibility |
ISO |
DNA:polymorphism:promoter:-308G>A (human) |
RGD |
PMID:19823053 |
RGD:2315116 |
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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G |
Tp53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Cervical cancer |
ClinVar |
PMID:1349102 PMID:1849234 PMID:8001119 PMID:8843196 PMID:9407971 PMID:12509279 PMID:12826609 PMID:15982667 PMID:16754663 PMID:19913028 PMID:20516128 PMID:20538734 PMID:22110706 PMID:25131192 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644 PMID:30374176 PMID:30816478 More...
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NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
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G |
Tp73 |
tumor protein p73 |
susceptibility |
ISO |
DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human) |
RGD |
PMID:30420492 |
RGD:151347580 |
NCBI chrNW_004624818:6,775,588...6,817,187
Ensembl chrNW_004624818:6,775,599...6,809,289
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G |
Xrcc1 |
X-ray repair cross complementing 1 |
|
ISO |
DNA:polymorphism: :p.R194W |
RGD |
PMID:18851872 |
RGD:2302567 |
NCBI chrNW_004624907:1,087,611...1,113,275
Ensembl chrNW_004624907:1,087,611...1,113,266
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G |
Zfhx3 |
zinc finger homeobox 3 |
|
ISO |
mRNA:increased expression:uterine cervix |
RGD |
PMID:11812077 |
RGD:2315697 |
NCBI chrNW_004624746:15,094,890...15,330,653
Ensembl chrNW_004624746:15,098,960...15,254,127
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G |
Stk11 |
serine/threonine kinase 11 |
disease_progression |
ISO |
DNA:mutations |
RGD |
PMID:12533684 |
RGD:2291947 |
NCBI chrNW_004624828:7,444,339...7,466,926
Ensembl chrNW_004624828:7,445,069...7,467,298
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G |
Adar |
adenosine deaminase RNA specific |
disease_progression |
ISO |
protein:increased expression:cervix squamous epithelium (human) |
RGD |
PMID:28109322 |
RGD:125097518 |
NCBI chrNW_004624885:2,783,058...2,839,688
Ensembl chrNW_004624885:2,812,448...2,839,693
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G |
Bax |
BCL2 associated X, apoptosis regulator |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:17694953 |
RGD:1643352 |
NCBI chrNW_004624832:5,050,222...5,068,565
Ensembl chrNW_004624832:5,050,222...5,055,506
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G |
Birc2 |
baculoviral IAP repeat containing 2 |
disease_progression |
ISO |
DNA, protein:amplification, increased expression:uterine cervix, nucleus |
RGD |
PMID:12208731 |
RGD:1643529 |
NCBI chrNW_004624878:476,460...514,637
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G |
Brip1 |
BRCA1 interacting DNA helicase 1 |
severity |
ISO |
mRNA, protein:increased expression:uterine cervix, nucleus (human) |
RGD |
PMID:24708616 |
RGD:11252104 |
NCBI chrNW_004624871:2,051,044...2,195,364
Ensembl chrNW_004624871:2,052,863...2,198,165
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G |
Ccl22 |
C-C motif chemokine ligand 22 |
severity |
ISO |
|
RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chrNW_004624746:28,694,879...28,700,711
Ensembl chrNW_004624746:28,694,735...28,700,827
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G |
Ccr4 |
C-C motif chemokine receptor 4 |
severity |
ISO |
|
RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chrNW_004624788:10,965,226...10,974,215
Ensembl chrNW_004624788:10,966,207...10,971,180
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G |
Cd82 |
CD82 molecule |
|
ISO |
protein:decreased expression:uterine cervix |
RGD |
PMID:15642213 |
RGD:2289399 |
NCBI chrNW_004624767:3,556,128...3,589,956
|
|
G |
Csf1r |
colony stimulating factor 1 receptor |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:18565574 |
RGD:2299119 |
NCBI chrNW_004624774:9,363,156...9,391,939
Ensembl chrNW_004624774:9,363,908...9,391,986
|
|
G |
Fgf7 |
fibroblast growth factor 7 |
|
ISO |
cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells |
RGD |
PMID:17306351 |
RGD:2289084 |
NCBI chrNW_004624731:10,413,715...10,468,660
Ensembl chrNW_004624731:10,413,645...10,468,690
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
no_association |
ISO |
DNA:missense mutation:cds: p.S249G (human) |
RGD |
PMID:11605053 |
RGD:38500202 |
NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932
|
|
G |
Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
disease_progression |
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:15514944 |
RGD:2293757 |
NCBI chrNW_004624734:26,424,053...26,427,431
Ensembl chrNW_004624734:26,423,079...26,427,732
|
|
G |
Fosl1 |
FOS like 1, AP-1 transcription factor subunit |
|
ISO |
protein:decreased expression:uterine cervix |
RGD |
PMID:15514944 |
RGD:2293757 |
NCBI chrNW_004624767:20,519,054...20,525,311
Ensembl chrNW_004624767:20,519,313...20,524,554
|
|
G |
Foxp3 |
forkhead box P3 |
severity |
ISO |
|
RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679
|
|
G |
Pdpn |
podoplanin |
disease_progression |
ISO |
|
RGD |
PMID:16528371 |
RGD:2292237 |
NCBI chrNW_004624764:163,370...192,770
|
|
G |
Smad3 |
SMAD family member 3 |
severity |
ISO |
|
RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chrNW_004624781:5,795,652...5,890,047
Ensembl chrNW_004624781:5,795,652...5,890,371
|
|
G |
Timp2 |
TIMP metallopeptidase inhibitor 2 |
|
ISO |
protein:decreased expression:uterine cervix |
RGD |
PMID:16619570 |
RGD:2290402 |
NCBI chrNW_004624801:8,228,618...8,270,606
Ensembl chrNW_004624801:8,228,357...8,270,982
|
|
G |
Tmbim6 |
transmembrane BAX inhibitor motif containing 6 |
disease_progression |
ISO |
mRNA:increased expression:uterine cervix |
RGD |
PMID:15337562 |
RGD:2291959 |
NCBI chrNW_004624816:2,519,839...2,540,766
|
|
G |
Tnfrsf4 |
TNF receptor superfamily member 4 |
severity |
ISO |
|
RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chrNW_004624818:8,372,092...8,376,108
Ensembl chrNW_004624818:8,373,810...8,376,204
|
|
G |
Tnfsf4 |
TNF superfamily member 4 |
severity |
ISO |
|
RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chrNW_004624771:8,580,489...8,599,735
|
|
G |
Tp53 |
tumor protein p53 |
disease_progression |
ISO |
|
RGD |
PMID:17969407 |
RGD:2298526 |
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
|
|
G |
Tymp |
thymidine phosphorylase |
disease_progression |
ISO |
|
RGD |
PMID:16803522 |
RGD:2293719 |
NCBI chrNW_004624752:251,670...256,243
Ensembl chrNW_004624752:252,937...256,244
|
|
|
G |
Apex1 |
apurinic/apyrimidinic endodeoxyribonuclease 1 |
|
ISO |
DNA:SNPs (human) |
RGD |
PMID:19202550 |
RGD:2315691 |
NCBI chrNW_004624825:4,711,921...4,714,926
Ensembl chrNW_004624825:4,708,093...4,714,921
|
|
G |
Bag1 |
BAG cochaperone 1 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:10047462 |
RGD:2293889 |
NCBI chrNW_004624736:38,015,150...38,025,079
Ensembl chrNW_004624736:38,015,044...38,025,079
|
|
G |
Bak1 |
BCL2 antagonist/killer 1 |
|
ISO |
DNA:missense mutations:exon:multiple (human) |
RGD |
PMID:12771926 |
RGD:2315701 |
NCBI chrNW_004624754:23,297,077...23,302,366
Ensembl chrNW_004624754:23,296,800...23,301,223
|
|
G |
Ccnd3 |
cyclin D3 |
|
ISO |
|
RGD |
PMID:14751136 |
RGD:2316013 |
NCBI chrNW_004624754:17,148,108...17,194,626
Ensembl chrNW_004624754:17,148,076...17,194,000
|
|
G |
Cd9 |
CD9 molecule |
disease_progression |
ISO |
|
RGD |
PMID:14695144 |
RGD:2326206 |
NCBI chrNW_004624860:3,027,126...3,055,974
Ensembl chrNW_004624860:3,027,029...3,056,798
|
|
G |
Efemp2 |
EGF containing fibulin extracellular matrix protein 2 |
exacerbates |
ISO |
mRNA, protein:increased expression:cervix epithelium (human) |
RGD |
PMID:24737201 |
RGD:42722607 |
NCBI chrNW_004624767:20,559,801...20,566,326
Ensembl chrNW_004624767:20,559,795...20,566,341
|
|
G |
Erap1 |
endoplasmic reticulum aminopeptidase 1 |
|
ISO |
DNA:SNPs (human) |
RGD |
PMID:19202550 |
RGD:2315691 |
NCBI chrNW_004624743:15,407,217...15,442,610
Ensembl chrNW_004624743:15,408,485...15,431,967
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
DNA:missense mutations:CDS:somatic mutations found in 3/12 (25%) of cervix carcinomas, all mutations are equivalent to activating germline mutations which cause thanatophoric dysplasia DNA:missense mutation:CDS:amino acid S249C, only found in 1/51 primary tumors and no cell lines tested implying that mutation frequency is much lower than previously reported |
RGD |
PMID:10471491 PMID:11114733 |
RGD:2289864 RGD:2289865 |
NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932
|
|
G |
Mgmt |
O-6-methylguanine-DNA methyltransferase |
|
ISO |
DNA:polymorphisms:cds:p.I143V, p.K178R (human) |
RGD |
PMID:17234722 |
RGD:2317690 |
NCBI chrNW_004624737:17,271,881...17,619,123
Ensembl chrNW_004624737:17,271,992...17,528,889
|
|
G |
Ptgs1 |
prostaglandin-endoperoxide synthase 1 |
disease_progression |
ISO |
|
RGD |
PMID:16803521 |
RGD:2300207 |
NCBI chrNW_004624760:12,917,244...12,937,858
Ensembl chrNW_004624760:12,915,206...12,937,824
|
|
G |
Ptk2 |
protein tyrosine kinase 2 |
|
ISO |
protein:increased tyrosine phosphorylation:cervix |
RGD |
PMID:14675348 |
RGD:2292568 |
NCBI chrNW_004624735:15,356,911...15,713,219
Ensembl chrNW_004624735:15,461,178...15,714,071
|
|
G |
Sparc |
secreted protein acidic and cysteine rich |
|
ISO |
DNA:hypermethylation |
RGD |
PMID:16434596 |
RGD:2300022 |
NCBI chrNW_004624733:37,348,993...37,369,804
Ensembl chrNW_004624733:37,338,284...37,369,804
|
|
G |
Tap2 |
transporter 2, ATP binding cassette subfamily B member |
susceptibility |
ISO |
DNA:SNP: :(rs4148876)(human) |
RGD |
PMID:17366619 |
RGD:6482264 |
NCBI chrNW_004624754:23,827,782...23,845,690
Ensembl chrNW_004624754:23,827,706...23,837,356
|
|
G |
Tk1 |
thymidine kinase 1 |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:11474248 |
RGD:2317243 |
NCBI chrNW_004624801:7,685,003...7,692,949
Ensembl chrNW_004624801:7,685,017...7,692,872
|
|
G |
Tsg101 |
tumor susceptibility 101 |
|
ISO |
mRNA:alternative form:uterine cervix mRNA:alternative forms:uterine cervix:multiple |
RGD |
PMID:10505033 PMID:10600297 |
RGD:2291851 RGD:2291852 |
NCBI chrNW_004624766:9,932,190...9,977,725
Ensembl chrNW_004624766:9,934,228...9,977,697
|
|
|
G |
Adam9 |
ADAM metallopeptidase domain 9 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:19473694 |
RGD:2325246 |
NCBI chrNW_004624780:4,482,696...4,612,475
Ensembl chrNW_004624780:4,480,647...4,612,477
|
|
G |
Bcl2 |
BCL2 apoptosis regulator |
disease_progression |
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:18561741 |
RGD:2298889 |
NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344
|
|
G |
Brca1 |
BRCA1 DNA repair associated |
|
ISO |
DNA:deletions:exon |
RGD |
PMID:10442317 |
RGD:2298942 |
NCBI chrNW_004624795:1,186,043...1,238,986
Ensembl chrNW_004624795:1,188,136...1,241,964
|
|
G |
Cadm1 |
cell adhesion molecule 1 |
severity |
ISO |
|
RGD |
PMID:17009984 |
RGD:2289089 |
NCBI chrNW_004624784:10,595,876...10,933,024
Ensembl chrNW_004624784:10,591,824...10,932,981
|
|
G |
Ccnd1 |
cyclin D1 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:18301453 |
RGD:2293574 |
NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191
|
|
G |
Ccne1 |
cyclin E1 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:18301453 |
RGD:2293574 |
NCBI chrNW_004624794:4,957,156...4,967,058
Ensembl chrNW_004624794:4,957,178...4,967,140
|
|
G |
Ccng1 |
cyclin G1 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:16845792 |
RGD:2316022 |
NCBI chrNW_004624733:26,366,448...26,378,062
Ensembl chrNW_004624733:26,367,200...26,376,664
|
|
G |
Cd274 |
CD274 molecule |
severity |
ISO |
associated with Papillomavirus Infections; protein:increased expression:dendritic cell |
RGD |
PMID:23521696 |
RGD:40822817 |
NCBI chrNW_004624736:9,991,851...10,017,047
Ensembl chrNW_004624736:9,996,156...10,013,814
|
|
G |
Cd46 |
CD46 molecule |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:9358772 |
RGD:2293549 |
NCBI chrNW_004624807:4,040,639...4,074,631
|
|
G |
Cdh1 |
cadherin 1 |
|
ISO |
DNA:hypermethylation:uterine cervix |
RGD |
PMID:17894941 |
RGD:2289490 |
NCBI chrNW_004624746:17,480,472...17,557,722
Ensembl chrNW_004624746:17,483,469...17,557,581
|
|
G |
Cdk4 |
cyclin dependent kinase 4 |
disease_progression |
ISO |
associated with Papillomavirus Infections;protein:increased expression:cervix epithelium |
RGD |
PMID:18301453 |
RGD:2293574 |
NCBI chrNW_004624802:10,191,679...10,194,585
Ensembl chrNW_004624802:10,191,014...10,194,275
|
|
G |
Cdkn1a |
cyclin dependent kinase inhibitor 1A |
|
ISO |
protein:increased expression:epithelial cell: |
RGD |
PMID:9546362 |
RGD:8662446 |
NCBI chrNW_004624754:21,109,074...21,115,869
Ensembl chrNW_004624754:21,108,874...21,115,885
|
|
G |
Cdkn1b |
cyclin dependent kinase inhibitor 1B |
disease_progression |
ISO |
associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium |
RGD |
PMID:18301453 |
RGD:2293574 |
NCBI chrNW_004624752:25,202,474...25,207,107
Ensembl chrNW_004624752:25,203,474...25,207,114
|
|
G |
Cdkn2b |
cyclin dependent kinase inhibitor 2B |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:17632454 |
RGD:2289695 |
NCBI chrNW_004624736:25,929,314...25,933,318
Ensembl chrNW_004624736:25,926,668...25,933,440
|
|
G |
Csf1r |
colony stimulating factor 1 receptor |
disease_progression |
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:18565574 |
RGD:2299119 |
NCBI chrNW_004624774:9,363,156...9,391,939
Ensembl chrNW_004624774:9,363,908...9,391,986
|
|
G |
Ctnna1 |
catenin alpha 1 |
disease_progression |
ISO |
protein:decreased expression:uterine cervix |
RGD |
PMID:11161853 |
RGD:2289797 |
NCBI chrNW_004624743:31,512,481...31,700,340
|
|
G |
Dlg1 |
discs large MAGUK scaffold protein 1 |
|
ISO |
protein:decreased expression:cervical lesions:targetted by the HPV oncoprotein E6 for ubiquitin-mediated proteolysis |
RGD |
PMID:15221964 |
RGD:2306812 |
NCBI chrNW_004624730:62,001,547...62,223,098
Ensembl chrNW_004624730:62,002,280...62,223,319
|
|
G |
Faslg |
Fas ligand |
|
ISO |
associated with Papillomavirus Infections |
RGD |
PMID:17433060 |
RGD:2290052 |
NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825
|
|
G |
Hdac1 |
histone deacetylase 1 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:19147762 |
RGD:2306200 |
NCBI chrNW_004624764:15,510,655...15,552,020
Ensembl chrNW_004624764:15,510,866...15,552,025
|
|
G |
Hdac2 |
histone deacetylase 2 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:19147762 |
RGD:2306200 |
NCBI chrNW_004624856:4,834,197...4,861,546
Ensembl chrNW_004624856:4,834,217...4,861,592
|
|
G |
Hdac6 |
histone deacetylase 6 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:19147762 |
RGD:2306200 |
NCBI chrNW_004624893:608,744...627,600
Ensembl chrNW_004624893:608,540...628,580
|
|
G |
Igfbp3 |
insulin like growth factor binding protein 3 |
|
ISO |
mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03) protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01) |
RGD |
PMID:14675666 PMID:17709267 |
RGD:2290004 RGD:2290021 |
NCBI chrNW_004624740:6,878,818...6,886,512
Ensembl chrNW_004624740:6,877,348...6,886,512
|
|
G |
Il1b |
interleukin 1 beta |
susceptibility |
ISO |
associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) |
RGD |
PMID:25893807 |
RGD:36174015 |
NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
|
|
G |
Mgp |
matrix Gla protein |
|
ISO |
|
RGD |
PMID:17960611 |
RGD:2293584 |
NCBI chrNW_004624752:23,146,025...23,149,266
Ensembl chrNW_004624752:23,146,166...23,149,048
|
|
G |
Mlh1 |
mutL homolog 1 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:15807307 |
RGD:2293515 |
NCBI chrNW_004624788:15,110,436...15,160,462
Ensembl chrNW_004624788:15,110,658...15,160,535
|
|
G |
Mmp2 |
matrix metallopeptidase 2 |
disease_progression |
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:16619570 |
RGD:2290402 |
NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255
|
|
G |
Msh2 |
mutS homolog 2 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:15807307 |
RGD:2293515 |
NCBI chrNW_004624738:28,780,596...28,861,523
Ensembl chrNW_004624738:28,780,614...28,861,704
|
|
G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17303386 |
|
NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168
|
|
G |
Pdcd1 |
programmed cell death 1 |
severity |
ISO |
associated with Papillomavirus Infections; protein:increased expression:T cell |
RGD |
PMID:23521696 |
RGD:40822817 |
NCBI chrNW_004624847:5,732,922...5,741,908
Ensembl chrNW_004624847:5,732,767...5,742,269
|
|
G |
Phb1 |
prohibitin 1 |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:16426920 |
RGD:2292398 |
NCBI chrNW_004624795:5,556,728...5,565,969
Ensembl chrNW_004624795:5,556,450...5,565,988
|
|
G |
Pou4f1 |
POU class 4 homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20190800 |
|
NCBI chrNW_004624751:21,812,567...21,817,837
Ensembl chrNW_004624751:21,812,850...21,814,747
|
|
G |
Pten |
phosphatase and tensin homolog |
|
ISO |
protein:decreased expression:uterine cervix |
RGD |
PMID:17672936 |
RGD:2298701 |
NCBI chrNW_004624791:13,975,235...14,056,900
|
|
G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
disease_progression |
ISO |
protein:increased expression:uterine cervix, epithelial cell |
RGD |
PMID:18565574 |
RGD:2299119 |
NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728
|
|
G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
associated with Adenocarcinoma |
RGD |
PMID:18234283 |
RGD:2299896 |
NCBI chrNW_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249
|
|
G |
Rela |
RELA proto-oncogene, NF-kB subunit |
disease_progression |
ISO |
protein:altered localization, increased expression:nucleus, uterine cervix |
RGD |
PMID:16850495 |
RGD:2298759 |
NCBI chrNW_004624767:20,732,813...20,742,016
Ensembl chrNW_004624767:20,732,938...20,741,272
|
|
G |
Skp2 |
S-phase kinase associated protein 2 |
severity |
ISO |
associated with Papillomavirus Infections |
RGD |
PMID:19094580 |
RGD:2315036 |
NCBI chrNW_004624759:18,796,055...18,858,692
Ensembl chrNW_004624759:18,830,323...18,858,712
|
|
G |
Stat3 |
signal transducer and activator of transcription 3 |
disease_progression |
ISO |
protein:increased expression:nucleus protein:increased serine phosphorylation:cervix epithelium |
RGD |
PMID:16005944 PMID:17110342 |
RGD:2291916 RGD:2298536 |
NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
|
|
G |
Tert |
telomerase reverse transcriptase |
disease_progression |
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:17644806 |
RGD:2291985 |
NCBI chrNW_004624751:624,569...647,198
|
|
G |
Thrb |
thyroid hormone receptor beta |
|
ISO |
DNA:loss of heterozygosity (human) |
RGD |
PMID:11483913 |
RGD:2315099 |
NCBI chrNW_004624788:1,950,888...2,348,895
Ensembl chrNW_004624788:1,950,890...2,349,343
|
|
G |
Tp63 |
tumor protein p63 |
disease_progression |
ISO |
|
RGD |
PMID:16804722 |
RGD:2315435 |
NCBI chrNW_004624730:67,283,444...67,489,808
Ensembl chrNW_004624730:67,286,160...67,489,670
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G |
Tp73 |
tumor protein p73 |
disease_progression |
ISO |
mRNA:increased expression:uterine cervix |
RGD |
PMID:11870517 |
RGD:2290589 |
NCBI chrNW_004624818:6,775,588...6,817,187
Ensembl chrNW_004624818:6,775,599...6,809,289
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:19723043 |
RGD:2315456 |
NCBI chrNW_004624754:15,929,414...15,943,637
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G |
Cd40 |
CD40 molecule |
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ISO |
|
RGD |
PMID:20102413 |
RGD:5132268 |
NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856
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G |
Foxp3 |
forkhead box P3 |
treatment |
ISO |
|
RGD |
PMID:30832593 |
RGD:38455984 |
NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
mRNA:increased expression:lung (mouse) |
RGD |
PMID:19728926 |
RGD:4145507 |
NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071
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G |
Ido1 |
indoleamine 2,3-dioxygenase 1 |
treatment |
ISO |
mRNA:increased expression:lung (mouse) |
RGD |
PMID:30832593 PMID:31249813 |
RGD:38455984 RGD:39938856 |
NCBI chrNW_004624780:3,684,941...3,697,506
Ensembl chrNW_004624780:3,685,069...3,697,474
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G |
Ifng |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19203382 |
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NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
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G |
Il13 |
interleukin 13 |
|
ISO |
|
RGD |
PMID:21573182 |
RGD:5684365 |
NCBI chrNW_004624733:39,427,189...39,430,019
Ensembl chrNW_004624733:39,428,095...39,429,843
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G |
Il17a |
interleukin 17A |
|
ISO |
associated with Bronchial Hyprractivity; mRNA:increased expression:lung |
RGD |
PMID:19812198 PMID:20228193 |
RGD:4888528 RGD:4889101 |
NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136
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G |
Tgfb1 |
transforming growth factor beta 1 |
treatment |
ISO |
|
RGD |
PMID:30832593 |
RGD:38455984 |
NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605
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G |
Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19203382 |
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NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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G |
Cd274 |
CD274 molecule |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:26378990 |
RGD:41412180 |
NCBI chrNW_004624736:9,991,851...10,017,047
Ensembl chrNW_004624736:9,996,156...10,013,814
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G |
Pdcd1 |
programmed cell death 1 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:26378990 |
RGD:41412180 |
NCBI chrNW_004624847:5,732,922...5,741,908
Ensembl chrNW_004624847:5,732,767...5,742,269
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G |
Pik3cd |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta |
severity |
ISO |
|
RGD |
PMID:29893841 |
RGD:40890270 |
NCBI chrNW_004624818:2,751,724...2,789,145
Ensembl chrNW_004624818:2,751,724...2,779,999
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G |
Ager |
advanced glycosylation end-product specific receptor |
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ISO |
|
RGD |
PMID:22578261 |
RGD:6767308 |
NCBI chrNW_004624754:24,138,086...24,140,900
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G |
Fas |
Fas cell surface death receptor |
|
ISO |
protein:increased expression:villous trophoblast |
RGD |
PMID:12700199 |
RGD:12904022 |
NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
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G |
Il1a |
interleukin 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21493953 |
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NCBI chrNW_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154
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G |
Il6 |
interleukin 6 |
|
ISO |
protein:increased expression: cervicovaginal fluid : protein:increased expression:plasma associated with Premature Birth;protein:increased expression:tracheal aspirate fluid: |
RGD |
PMID:15547537 PMID:25011638 PMID:25687566 |
RGD:12791291 RGD:12792243 RGD:5128667 |
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
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G |
Lta |
lymphotoxin alpha |
severity |
ISO |
associated with Premature Birth;DNA:SNP:promoter:250G>A (human) |
RGD |
PMID:15128916 |
RGD:12904055 |
NCBI chrNW_004624754:24,626,930...24,628,412
Ensembl chrNW_004624754:24,627,318...24,628,182
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G |
Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
DNA:polymorphism:exon:p.G54D(human) |
RGD |
PMID:15723707 |
RGD:12910932 |
NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
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G |
Mmp9 |
matrix metallopeptidase 9 |
severity |
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:12712078 |
RGD:13204828 |
NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
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G |
Tgfb1 |
transforming growth factor beta 1 |
severity |
ISO |
protein:increased expression:amniotic fluid |
RGD |
PMID:19332995 |
RGD:4145137 |
NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605
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G |
Tnf |
tumor necrosis factor |
no_association severity |
ISO |
associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human) associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human) |
RGD |
PMID:15128916 |
RGD:12904055 |
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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G |
Fgf8 |
fibroblast growth factor 8 |
|
ISO |
protein:increased expression:testicular germ cell neoplasms |
RGD |
PMID:11764380 |
RGD:2289339 |
NCBI chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741
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G |
Igf2 |
insulin like growth factor 2 |
disease_progression |
ISO |
protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR |
RGD |
PMID:17556377 |
RGD:2290454 |
NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026
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G |
Insr |
insulin receptor |
disease_progression |
ISO |
protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR |
RGD |
PMID:17556377 |
RGD:2290454 |
NCBI chrNW_004624828:345,135...485,856
Ensembl chrNW_004624828:345,135...486,184
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G |
Pdgfb |
platelet derived growth factor subunit B |
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ISO |
mRNA:increased expression:mononuclear cytotrophoblast cell |
RGD |
PMID:8504434 |
RGD:2292200 |
NCBI chrNW_004624752:9,072,471...9,088,289
Ensembl chrNW_004624752:9,072,512...9,088,593
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
|
ISO |
mRNA:increased expression:mononuclear cytotrophoblast cell |
RGD |
PMID:8504434 |
RGD:2292200 |
NCBI chrNW_004624774:9,432,765...9,469,690
Ensembl chrNW_004624774:9,432,541...9,469,881
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G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
|
ISO |
DNA, protein:hypermethylation, decreased expression:promoter, placenta |
RGD |
PMID:15507671 |
RGD:2290418 |
NCBI chrNW_004624750:1,776,197...1,817,279
Ensembl chrNW_004624750:1,775,744...1,817,385
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G |
Adgrg2 |
adhesion G protein-coupled receptor G2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
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NCBI chrNW_004624829:3,785,682...3,916,595
Ensembl chrNW_004624829:3,787,207...3,867,846
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G |
Cftr |
CF transmembrane conductance regulator |
|
ISO |
ClinVar Annotator: match by term: Congenital bilateral absence of vas deferens |
ClinVar |
PMID:1381723 PMID:2344617 PMID:7506096 PMID:7539342 PMID:7573058 PMID:7684641 PMID:7684646 PMID:7691356 PMID:7739684 PMID:8530001 PMID:8556303 PMID:8662892 PMID:9435322 PMID:10103316 PMID:10556281 PMID:10668931 PMID:10762539 PMID:10923036 PMID:11069835 PMID:11101688 PMID:11354633 PMID:11491164 PMID:11729110 PMID:12167682 PMID:12815607 PMID:12955726 PMID:14685937 PMID:14993601 PMID:15070876 PMID:15371902 PMID:15905293 PMID:16020494 PMID:16189704 PMID:16263954 PMID:16778595 PMID:16840743 PMID:17314234 PMID:17329263 PMID:17331079 PMID:17489851 PMID:18456578 PMID:18507830 PMID:18567645 PMID:18685558 PMID:18951463 PMID:19092437 PMID:20301428 PMID:20460946 PMID:20667826 PMID:20691141 PMID:20837875 PMID:20880762 PMID:21228398 PMID:21520337 PMID:21658649 PMID:22842702 PMID:22992668 PMID:23810505 PMID:23891399 PMID:23974870 PMID:24033266 PMID:25087612 PMID:25251442 PMID:25741868 PMID:26014425 PMID:26467025 PMID:26708955 PMID:27171515 PMID:27447098 PMID:27469177 PMID:28492532 PMID:28603918 PMID:28800122 PMID:29318594 PMID:30022950 PMID:30873022 PMID:31036917 PMID:31268981 PMID:31328366 PMID:32628927 PMID:32630527 PMID:32934006 PMID:33374015 PMID:34196078 More...
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NCBI chrNW_004624827:1,704,733...1,893,579
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G |
Ace |
angiotensin I converting enzyme |
|
ISO |
protein:increased activity:lung (rat) |
RGD |
PMID:9498404 |
RGD:12859277 |
NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521
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G |
Agtr2 |
angiotensin II receptor type 2 |
|
ISO |
|
RGD |
PMID:22113494 |
RGD:6903875 |
NCBI chrNW_004624967:327,627...332,000
Ensembl chrNW_004624967:329,284...330,372
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G |
Atp7a |
ATPase copper transporting alpha |
|
ISO |
mRNA, protein:decreased expression:diaphragm (rat) |
RGD |
PMID:25319798 |
RGD:11341670 |
NCBI chrNW_004624836:2,804,349...3,058,125
Ensembl chrNW_004624836:2,808,681...2,993,452
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G |
Bmp4 |
bone morphogenetic protein 4 |
|
ISO |
mRNA:decreased expression:heart: |
RGD |
PMID:18280291 |
RGD:9068407 |
NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743
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G |
Cbl |
Cbl proto-oncogene |
|
ISO |
mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: |
RGD |
PMID:23143077 |
RGD:11038813 |
NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575
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G |
Ccn2 |
cellular communication network factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20939759 PMID:21258935 |
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NCBI chrNW_004624753:6,022,033...6,024,866
Ensembl chrNW_004624753:6,023,069...6,024,833
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G |
Des |
desmin |
|
ISO |
ClinVar Annotator: match by term: Congenital diaphragmatic hernia |
ClinVar |
PMID:14724127 PMID:15477095 PMID:16217025 PMID:16519886 PMID:16828798 PMID:16865695 PMID:17325244 PMID:17626518 PMID:20474083 PMID:21842594 PMID:22215463 PMID:23143191 PMID:23168288 PMID:23806086 PMID:23861362 PMID:24033266 PMID:24088041 PMID:25214167 PMID:25736269 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chrNW_004624823:5,624,958...5,632,234
Ensembl chrNW_004624823:5,622,283...5,632,283
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G |
Eln |
elastin |
|
ISO |
mRNA,protein:increased expression:lung: |
RGD |
PMID:12194112 |
RGD:9585688 |
NCBI chrNW_004624740:13,856,932...13,886,266
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G |
Fbn1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital diaphragmatic hernia |
ClinVar |
PMID:23806086 PMID:24088041 PMID:25736269 |
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NCBI chrNW_004624731:11,086,240...11,318,111
Ensembl chrNW_004624731:11,086,844...11,318,102
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G |
Fgfrl1 |
fibroblast growth factor receptor like 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital diaphragmatic hernia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33443296 |
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NCBI chrNW_004624755:26,134,957...26,145,746
Ensembl chrNW_004624755:26,135,505...26,144,325
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G |
Foxc2 |
forkhead box C2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27663689 |
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NCBI chrNW_004624746:2,632,547...2,634,867
Ensembl chrNW_004624746:2,632,619...2,634,085
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G |
Foxf1 |
forkhead box F1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27663689 |
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NCBI chrNW_004624746:2,599,211...2,603,031
Ensembl chrNW_004624746:2,599,106...2,603,336
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G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: Congenital diaphragmatic hernia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004624757:12,529,475...12,973,751
Ensembl chrNW_004624757:12,532,466...12,972,918
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G |
Frem1 |
FRAS1 related extracellular matrix 1 |
|
ISO |
ClinVar Annotator: match by term: Agenesis of hemidiaphragm |
ClinVar |
PMID:23806086 PMID:24088041 PMID:25736269 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004624736:18,975,104...19,346,159
Ensembl chrNW_004624736:18,989,320...19,132,416
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G |
Frem2 |
FRAS1 related extracellular matrix 2 |
|
ISO |
ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: Congenital diaphragmatic hernia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30143558 |
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NCBI chrNW_004624920:1,683,342...1,908,602
Ensembl chrNW_004624920:1,683,351...1,904,557
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G |
Gata4 |
GATA binding protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism OMIM:142340 | OMIM:222400 | OMIM:610187 |
CTD MouseDO |
PMID:23426975 |
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NCBI chrNW_004624758:25,278,878...25,319,317
Ensembl chrNW_004624758:25,278,874...25,319,318
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G |
Gata6 |
GATA binding protein 6 |
|
ISO |
ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: DIH |
ClinVar |
PMID:22158542 PMID:24385578 PMID:25741868 |
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NCBI chrNW_004624770:9,772,818...9,799,837
Ensembl chrNW_004624770:9,772,818...9,798,259
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G |
Gli3 |
GLI family zinc finger 3 |
|
ISO |
ClinVar Annotator: match by term: Congenital diaphragmatic hernia |
ClinVar |
|
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NCBI chrNW_004624740:18,961,395...19,238,760
Ensembl chrNW_004624740:18,975,596...19,235,900
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G |
Htr2a |
5-hydroxytryptamine receptor 2A |
|
ISO |
mRNA, protein:increased expression:lung |
RGD |
PMID:24888825 |
RGD:401901089 |
NCBI chrNW_004624748:8,154,288...8,223,226
Ensembl chrNW_004624748:8,155,107...8,223,259
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G |
Igf1 |
insulin like growth factor 1 |
|
ISO |
mRNA:decreased expression:heart (rat) |
RGD |
PMID:11409163 |
RGD:12904929 |
NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300
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G |
Igf1r |
insulin like growth factor 1 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20620343 PMID:21433279 |
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NCBI chrNW_004624768:5,396,027...5,688,435
Ensembl chrNW_004624768:5,396,156...5,681,809
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G |
Igf2 |
insulin like growth factor 2 |
treatment |
ISO |
|
RGD |
PMID:24352370 |
RGD:10402563 |
NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026
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G |
Igf2r |
insulin like growth factor 2 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20620343 PMID:21433279 |
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NCBI chrNW_004624855:2,752,676...2,887,327
Ensembl chrNW_004624855:2,753,994...2,887,151
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G |
Igfbp3 |
insulin like growth factor binding protein 3 |
|
ISO |
|
RGD |
PMID:19844724 |
RGD:10402761 |
NCBI chrNW_004624740:6,878,818...6,886,512
Ensembl chrNW_004624740:6,877,348...6,886,512
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G |
Igfbp5 |
insulin like growth factor binding protein 5 |
|
ISO |
|
RGD |
PMID:19844724 |
RGD:10402761 |
NCBI chrNW_004624823:8,434,614...8,454,879
Ensembl chrNW_004624823:8,434,635...8,454,747
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G |
Insr |
insulin receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21433279 |
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NCBI chrNW_004624828:345,135...485,856
Ensembl chrNW_004624828:345,135...486,184
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G |
Kcnq5 |
potassium voltage-gated channel subfamily Q member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28189443 |
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NCBI chrNW_004624819:6,886,328...7,365,537
Ensembl chrNW_004624819:6,889,658...7,365,537
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G |
Kif7 |
kinesin family member 7 |
|
ISO |
mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme; OMIM:142340 | OMIM:222400 | OMIM:610187 |
RGD MouseDO |
PMID:25921351 |
RGD:11553839 |
NCBI chrNW_004624768:16,674,485...16,732,698
Ensembl chrNW_004624768:16,718,978...16,730,707
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G |
Lrp1 |
LDL receptor related protein 1 |
|
ISO |
OMIM:142340 | OMIM:222400 | OMIM:610187 |
MouseDO |
|
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NCBI chrNW_004624802:10,734,907...10,812,888
Ensembl chrNW_004624802:10,734,263...10,812,763
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G |
Lztr1 |
leucine zipper like post translational regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital diaphragmatic hernia |
ClinVar |
PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 PMID:28492532 PMID:29469822 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30859559 More...
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NCBI chrNW_004624945:691,063...709,599
Ensembl chrNW_004624945:691,059...709,564
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Agenesis of hemidiaphragm |
ClinVar |
PMID:1104268 PMID:14559814 PMID:17483355 PMID:21970370 PMID:22703879 PMID:23806086 PMID:24088041 PMID:24728327 PMID:25605252 PMID:25736269 PMID:25741868 PMID:25859546 PMID:26467025 PMID:28492532 PMID:32934698 More...
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NCBI chrNW_004624827:2,589,157...2,724,065
Ensembl chrNW_004624827:2,587,966...2,723,995
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Mn1 |
MN1 proto-oncogene, transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Agenesis of hemidiaphragm |
ClinVar |
PMID:25741868 PMID:31834374 |
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NCBI chrNW_004624747:4,090,664...4,135,822
Ensembl chrNW_004624747:4,093,279...4,134,876
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G |
Myo15a |
myosin XVA |
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ISO |
ClinVar Annotator: match by term: Agenesis of hemidiaphragm |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532 |
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NCBI chrNW_004624849:3,283,180...3,345,456
Ensembl chrNW_004624849:3,284,085...3,344,759
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Myod1 |
myogenic differentiation 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258934 |
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NCBI chrNW_004624766:9,345,390...9,347,985
Ensembl chrNW_004624766:9,345,613...9,347,326
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G |
Myrf |
myelin regulatory factor |
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ISO |
ClinVar Annotator: match by term: Agenesis of hemidiaphragm |
ClinVar |
PMID:25741868 PMID:30532227 |
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NCBI chrNW_004624926:615,991...636,167
Ensembl chrNW_004624926:617,303...636,080
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G |
Ndst1 |
N-deacetylase and N-sulfotransferase 1 |
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ISO |
OMIM:142340 | OMIM:222400 | OMIM:610187 |
MouseDO |
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NCBI chrNW_004624774:9,758,459...9,821,309
Ensembl chrNW_004624774:9,758,809...9,821,309
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G |
Nos3 |
nitric oxide synthase 3 |
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ISO |
protein:decreased expression:pulmonary artery (rat) |
RGD |
PMID:29216632 |
RGD:13504720 |
NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004
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Nr2f2 |
nuclear receptor subfamily 2 group F member 2 |
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ISO |
OMIM:142340 | OMIM:222400 | OMIM:610187 |
MouseDO |
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NCBI chrNW_004624768:7,713,771...7,728,102
Ensembl chrNW_004624768:7,701,674...7,728,408
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G |
Pax3 |
paired box 3 |
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ISO |
ClinVar Annotator: match by term: Congenital diaphragmatic hernia |
ClinVar |
PMID:8589691 PMID:8863157 PMID:9584079 PMID:9856573 PMID:23806086 PMID:24033266 PMID:24088041 PMID:25736269 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29407415 More...
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NCBI chrNW_004624823:2,870,762...2,963,134
Ensembl chrNW_004624823:2,871,162...2,961,944
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G |
Pdgfra |
platelet derived growth factor receptor alpha |
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ISO |
OMIM:142340 | OMIM:222400 | OMIM:610187 |
MouseDO |
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NCBI chrNW_004624761:15,223,789...15,269,685
Ensembl chrNW_004624761:15,225,356...15,269,810
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G |
Pgap3 |
post-GPI attachment to proteins phospholipase 3 |
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ISO |
ClinVar Annotator: match by term: Agenesis of hemidiaphragm |
ClinVar |
PMID:25741868 PMID:30345601 |
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NCBI chrNW_004624795:3,399,648...3,408,277
Ensembl chrNW_004624795:3,399,699...3,408,277
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G |
Pim1 |
Pim-1 proto-oncogene, serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25812446 |
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NCBI chrNW_004624754:20,810,398...20,815,182
Ensembl chrNW_004624754:20,808,701...20,815,206
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G |
Pls3 |
plastin 3 |
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ISO |
ClinVar Annotator: match by term: Congenital diaphragmatic hernia |
ClinVar |
PMID:25741868 PMID:37751738 |
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NCBI chrNW_004624940:120,073...216,522
Ensembl chrNW_004624940:120,073...216,622
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G |
Rhoa |
ras homolog family member A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25783350 |
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NCBI chrNW_004624730:3,316,122...3,361,820
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G |
Robo4 |
roundabout guidance receptor 4 |
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ISO |
ClinVar Annotator: match by term: Congenital diaphragmatic hernia |
ClinVar |
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NCBI chrNW_004624927:888,421...903,657
Ensembl chrNW_004624927:888,141...903,659
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G |
Sftpb |
surfactant protein B |
treatment |
ISO |
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RGD |
PMID:11051153 |
RGD:151667435 |
NCBI chrNW_004624749:17,486,483...17,495,822
Ensembl chrNW_004624749:17,486,518...17,493,846
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G |
Slc6a4 |
solute carrier family 6 member 4 |
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ISO |
protein:increased expression:lung |
RGD |
PMID:24888825 |
RGD:401901089 |
NCBI chrNW_004624786:2,673,285...2,711,432
Ensembl chrNW_004624786:2,672,552...2,710,914
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G |
Slit2 |
slit guidance ligand 2 |
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ISO |
mRNA:increased expression:lung |
RGD |
PMID:19944214 |
RGD:243048459 |
NCBI chrNW_004624755:11,470,810...11,819,800
Ensembl chrNW_004624755:11,472,377...11,819,266
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G |
Slit3 |
slit guidance ligand 3 |
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ISO |
mRNA:increased expression:lung OMIM:142340 | OMIM:222400 | OMIM:610187 |
RGD MouseDO |
PMID:19944214 |
RGD:243048459 |
NCBI chrNW_004624733:20,683,680...21,293,663
Ensembl chrNW_004624733:20,683,814...21,291,088
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G |
Sod1 |
superoxide dismutase 1 |
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ISO |
mRNA:decreased expression:lung |
RGD |
PMID:26534761 |
RGD:11035301 |
NCBI chrNW_004624745:20,032,003...20,037,958
Ensembl chrNW_004624745:20,032,011...20,037,958
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
mRNA:decreased expression:lung |
RGD |
PMID:26534761 |
RGD:11035301 |
NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367
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G |
Sox7 |
SRY-box transcription factor 7 |
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ISO |
OMIM:142340 | OMIM:222400 | OMIM:610187 |
MouseDO |
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NCBI chrNW_004624758:24,556,436...24,562,204
Ensembl chrNW_004624758:24,556,010...24,562,213
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G |
Stat3 |
signal transducer and activator of transcription 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25812446 |
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NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
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G |
Tnf |
tumor necrosis factor |
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ISO |
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RGD |
PMID:10541330 |
RGD:12904053 |
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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Vegfa |
vascular endothelial growth factor A |
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ISO |
protein:decreased expression:lung: |
RGD |
PMID:15879288 |
RGD:7421593 |
NCBI chrNW_004624754:15,929,414...15,943,637
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G |
Wnt11 |
Wnt family member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25783350 |
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NCBI chrNW_004624817:931,686...952,474
Ensembl chrNW_004624817:932,970...952,326
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G |
Wt1 |
WT1 transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism OMIM:142340 | OMIM:222400 | OMIM:610187 |
CTD MouseDO |
PMID:21072664 |
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NCBI chrNW_004624766:20,899,546...20,937,084
Ensembl chrNW_004624766:20,900,676...20,937,202
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G |
Zfpm2 |
zinc finger protein, FOG family member 2 |
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ISO |
OMIM:142340 | OMIM:222400 | OMIM:610187 |
MouseDO |
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NCBI chrNW_004624763:21,388,060...21,708,969
Ensembl chrNW_004624763:21,388,244...21,707,953
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G |
M1ap |
meiosis 1 associated protein |
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ISO |
ClinVar Annotator: match by term: Cryptozoospermia |
ClinVar |
PMID:25741868 PMID:32673564 |
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NCBI chrNW_004624749:28,855,225...28,955,378
Ensembl chrNW_004624749:28,871,031...28,956,045
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G |
Sycp2 |
synaptonemal complex protein 2 |
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ISO |
ClinVar Annotator: match by term: Cryptozoospermia |
ClinVar |
PMID:25741868 PMID:31866047 |
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NCBI chrNW_004624741:26,108,446...26,208,184
Ensembl chrNW_004624741:26,122,385...26,203,154
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G |
Trim71 |
tripartite motif containing 71 |
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ISO |
ClinVar Annotator: match by term: Cryptozoospermia |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004624788:10,858,490...10,929,693
Ensembl chrNW_004624788:10,859,932...10,929,029
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G |
Catsper2 |
cation channel sperm associated 2 |
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ISO |
ClinVar Annotator: match by term: Deafness-infertility syndrome |
ClinVar |
PMID:19344877 PMID:24033266 PMID:25741868 |
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NCBI chrNW_004624731:9,707,912...9,721,239
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G |
Ckmt1a |
creatine kinase, mitochondrial 1A |
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ISO |
ClinVar Annotator: match by term: Deafness-infertility syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004624804:10,680,595...10,689,212
Ensembl chrNW_004624804:10,681,210...10,689,212
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G |
Pdia3 |
protein disulfide isomerase family A member 3 |
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ISO |
ClinVar Annotator: match by term: Deafness-infertility syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004624804:10,754,978...10,784,641
Ensembl chrNW_004624804:10,755,103...10,784,337
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G |
Ppip5k1 |
diphosphoinositol pentakisphosphate kinase 1 |
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ISO |
ClinVar Annotator: match by term: Deafness-infertility syndrome |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004624804:10,633,142...10,680,089
Ensembl chrNW_004624804:10,633,142...10,680,084
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G |
Strc |
stereocilin |
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ISO |
ClinVar Annotator: match by term: Deafness-infertility syndrome |
ClinVar |
PMID:18414213 PMID:21078986 PMID:22147502 PMID:24033266 PMID:25157971 PMID:25741868 PMID:26467025 PMID:29425068 More...
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NCBI chrNW_004624838:2,894,945...2,913,030
Ensembl chrNW_004624838:2,896,147...2,910,268
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G |
Foxo3 |
forkhead box O3 |
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ISO |
OMIM:166950 |
MouseDO |
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NCBI chrNW_004624780:13,621,733...13,740,399
Ensembl chrNW_004624780:13,622,948...13,740,374
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G |
Agt |
angiotensinogen |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16292651 |
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NCBI chrNW_004624775:18,846,222...18,856,093
Ensembl chrNW_004624775:18,849,118...18,855,577
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G |
Agtr1 |
angiotensin II receptor type 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16292651 |
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NCBI chrNW_004624730:25,964,848...26,006,468
Ensembl chrNW_004624730:25,964,811...26,006,463
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G |
Aqp5 |
aquaporin 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17245593 PMID:17270560 |
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NCBI chrNW_004624816:2,326,059...2,329,525
Ensembl chrNW_004624816:2,326,010...2,329,544
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G |
Bmp4 |
bone morphogenetic protein 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18280291 |
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NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743
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G |
Cftr |
CF transmembrane conductance regulator |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16473863 |
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NCBI chrNW_004624827:1,704,733...1,893,579
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G |
Edn1 |
endothelin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9473106 PMID:10693666 |
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NCBI chrNW_004624756:13,842,482...13,849,003
Ensembl chrNW_004624756:13,842,164...13,849,029
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G |
Ednra |
endothelin receptor type A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9473106 PMID:10693666 |
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NCBI chrNW_004624853:6,298,406...6,362,353
Ensembl chrNW_004624853:6,302,751...6,360,089
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G |
Ednrb |
endothelin receptor type B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10693666 |
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NCBI chrNW_004624751:22,459,613...22,491,409
Ensembl chrNW_004624751:22,459,584...22,491,606
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G |
Eln |
elastin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10359170 |
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NCBI chrNW_004624740:13,856,932...13,886,266
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G |
Fgf18 |
fibroblast growth factor 18 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17303798 |
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NCBI chrNW_004624733:18,599,186...18,633,065
Ensembl chrNW_004624733:18,599,557...18,633,016
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G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10646786 |
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NCBI chrNW_004624777:3,268,674...3,321,424
Ensembl chrNW_004624777:3,268,953...3,321,145
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G |
Foxa2 |
forkhead box A2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16863852 |
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NCBI chrNW_004624741:22,645,580...22,649,722
Ensembl chrNW_004624741:22,645,519...22,649,854
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G |
Gata4 |
GATA binding protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18280291 |
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NCBI chrNW_004624758:25,278,878...25,319,317
Ensembl chrNW_004624758:25,278,874...25,319,318
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G |
Gata6 |
GATA binding protein 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18280291 |
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NCBI chrNW_004624770:9,772,818...9,799,837
Ensembl chrNW_004624770:9,772,818...9,798,259
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G |
Gja1 |
gap junction protein alpha 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16292552 PMID:16720372 |
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NCBI chrNW_004624798:9,358,996...9,364,413
Ensembl chrNW_004624798:9,359,004...9,364,313
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G |
Hoxa5 |
homeobox A5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18351244 |
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NCBI chrNW_004624739:3,461,779...3,464,543
Ensembl chrNW_004624739:3,461,800...3,464,785
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G |
Hoxb3 |
homeobox B3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18351244 |
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NCBI chrNW_004624795:5,050,272...5,072,614
Ensembl chrNW_004624795:5,048,920...5,068,708
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G |
Icam1 |
intercellular adhesion molecule 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12759764 PMID:17245593 |
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NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071
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G |
Igf1 |
insulin like growth factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10370016 |
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NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300
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G |
Igf2 |
insulin like growth factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10370016 |
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NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026
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G |
Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18500730 |
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NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
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G |
Kcna2 |
potassium voltage-gated channel subfamily A member 2 |
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