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: | Urogenital Abnormalities |
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Accession: | DOID:9001611
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browse the term
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Definition: | Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female. |
Synonyms: | exact_synonym: | Genitourinary Abnormalities; Genitourinary Abnormality; genitourinary tract anomalies; urogenital abnormality |
| primary_id: | MESH:D014564 |
| alt_id: | MESH:C564424 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Agtr2 |
angiotensin II receptor, type 2 |
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ISO |
DNA:transition:intron DNA:transition:intron:-1332A>G (human) |
RGD |
PMID:16133060 PMID:15470205 |
RGD:6903850, RGD:6903853 |
NCBI chr X:112,119,673...112,124,060
Ensembl chr X:112,120,228...112,124,057
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Fgd1 |
FYVE, RhoGEF and PH domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7954831 PMID:10930571 PMID:11093277 |
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NCBI chr X:20,023,746...20,066,730
Ensembl chr X:20,023,746...20,066,566
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Hoxa13 |
homeo box A13 |
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ISO |
hand-foot-genital syndrome, OMIM:140000 |
RGD |
PMID:9020844 |
RGD:1599526 |
NCBI chr 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091
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Irf6 |
interferon regulatory factor 6 |
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ISO |
popliteal pterygium syndrome, OMIM:119500 |
RGD |
PMID:12219090 |
RGD:1600214 |
NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
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Samd9 |
sterile alpha motif domain containing 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27182967 |
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NCBI chr 4:31,164,639...31,184,325
Ensembl chr 4:31,164,510...31,184,322
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Tgfb2 |
transforming growth factor, beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9217007 |
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NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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Wnt4 |
Wnt family member 4 |
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ISO |
utero-vaginal atresia (MRKH), OMIM:277000 |
RGD |
PMID:15317892 |
RGD:1599857 |
NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
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Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency | ClinVar Annotator: match by term: Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency | ClinVar Annotator: match by term: Isolated 17,20-lyase deficiency |
ClinVar |
PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2335573 PMID:2786493 PMID:2843762 PMID:6976525 PMID:7629254 PMID:8550762 PMID:9177409 PMID:9326943 PMID:9435441 PMID:9601054 PMID:9892022 PMID:10720067 PMID:11422109 PMID:11549685 PMID:11836339 PMID:12466376 PMID:14671162 PMID:14715826 PMID:14715827 PMID:14747197 PMID:15713706 PMID:15811924 PMID:15844475 PMID:16121340 PMID:16569739 PMID:16772352 PMID:16849412 PMID:17192295 PMID:17379008 PMID:20197673 PMID:21340157 PMID:21340163 PMID:21846181 PMID:22309630 PMID:22954317 PMID:23291414 PMID:23466679 PMID:24033266 PMID:24140098 PMID:25741868 PMID:26543560 PMID:26845730 PMID:27426448 PMID:28008861 PMID:28492532 PMID:28870780 PMID:29595516 PMID:29858860 PMID:33753170 More...
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NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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Hsd17b3 |
hydroxysteroid (17-beta) dehydrogenase 3 |
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ISO |
ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:598011 PMID:2918056 PMID:8075637 PMID:8550739 PMID:8626842 PMID:9467575 PMID:9536098 PMID:9709959 PMID:9758445 PMID:10599740 PMID:11158067 PMID:17509588 PMID:17576681 PMID:19498320 PMID:21214500 PMID:22212252 PMID:23295294 PMID:24025597 PMID:24033266 PMID:25525159 PMID:25526675 PMID:25740850 PMID:25741868 PMID:28492532 PMID:30668521 PMID:32297288 More...
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NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554
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Colec11 |
collectin sub-family member 11 |
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ISO |
ClinVar Annotator: match by term: 3MC syndrome 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 |
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NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
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Masp1 |
MBL associated serine protease 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258343 |
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NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
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Slc26a2 |
solute carrier family 26 member 2 |
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ISO |
ClinVar Annotator: match by term: OSA syndrome |
ClinVar |
PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11565064 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:18708426 PMID:18925670 PMID:19344236 PMID:20219950 PMID:20301524 PMID:20525296 PMID:20592910 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 More...
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NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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Fancl |
FA complementation group L |
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ISS |
OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324 |
MouseDO |
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NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
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Fshr |
follicle stimulating hormone receptor |
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ISO |
DNA:point mutation:exon:A189V ClinVar Annotator: match by term: Ovarian dysgenesis |
ClinVar RGD |
PMID:7553856 |
RGD:1601232 |
NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785
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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:28492532 PMID:29566152 |
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NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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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 chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11932321 |
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NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Amhr2 |
anti-Mullerian hormone receptor type 2 |
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ISO |
ClinVar Annotator: match by term: Male pseudohermaphroditism |
ClinVar |
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NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258
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Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11502818 |
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NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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Lhcgr |
luteinizing hormone/choriogonadotropin receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7719343 PMID:19887492 |
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NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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Nr5a1 |
nuclear receptor subfamily 5, group A, member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 46,XY disorder of sex development |
CTD ClinVar |
PMID:28492532 |
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NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Sry |
sex determining region Y |
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ISO |
ClinVar Annotator: match by term: 46,XY disorder of sex development |
ClinVar |
PMID:8353496 PMID:25741868 PMID:29378242 |
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Sry |
sex determining region Y |
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ISO |
ClinVar Annotator: match by term: 46,XX sex reversal 1 |
OMIM ClinVar |
PMID:25741868 |
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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 |
OMIM ClinVar |
PMID:21208124 PMID:22051515 |
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NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
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Nr5a1 |
nuclear receptor subfamily 5, group A, member 1 |
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ISO |
ClinVar Annotator: match by term: 46,XX sex reversal 4 |
OMIM ClinVar |
PMID:11932325 PMID:22549935 PMID:25741868 PMID:26523528 PMID:27378692 PMID:27490115 PMID:27610946 PMID:27855412 PMID:28033660 PMID:28492532 More...
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NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Nr2f2 |
nuclear receptor subfamily 2, group F, member 2 |
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ISO |
ClinVar Annotator: match by term: 46,xx sex reversal 5 |
OMIM ClinVar |
PMID:27363585 PMID:29478779 |
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NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031
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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:28492532 PMID:29566152 |
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NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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Wnt4 |
Wnt family member 4 |
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ISO |
ClinVar Annotator: match by term: SERKAL syndrome |
OMIM ClinVar |
PMID:18179883 PMID:25741868 |
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NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
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Dhh |
desert hedgehog signaling molecule |
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ISO |
ClinVar Annotator: match by term: 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy |
OMIM ClinVar |
PMID:11017805 PMID:11891836 PMID:25927242 PMID:28589169 PMID:28708305 PMID:29471294 More...
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NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406
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Ar |
androgen receptor |
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ISO |
ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY |
ClinVar |
PMID:11549642 PMID:25741868 PMID:27899157 |
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NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Chd7 |
chromodomain helicase DNA binding protein 7 |
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ISO |
ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY |
ClinVar |
PMID:25741868 PMID:33189935 |
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NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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Dhh |
desert hedgehog signaling molecule |
susceptibility |
ISO ISS |
DNA:missense mutation:exon OMIM:154230 | OMIM:233420 | OMIM:300018 | OMIM:400044 | OMIM:607080 | OMIM:612965 | OMIM:613080 | OMIM:613762 | OMIM:614279 | OMIM:616067 ClinVar Annotator: match by term: 46,XY DSD/46,XY CGD |
MouseDO ClinVar RGD |
PMID:11017805 |
RGD:1601053 |
NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406
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Dmrt1 |
doublesex and mab-3 related transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY |
ClinVar |
PMID:25741868 |
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NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333
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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:10369247 PMID:11932325 PMID:15070943 |
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NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Sry |
sex determining region Y |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:27576690 PMID:2247151 PMID:8257986 |
RGD:1599179, RGD:1598780 |
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Sry |
sex determining region Y |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 1 |
OMIM ClinVar |
PMID:1339396 PMID:1415266 PMID:1438307 PMID:1483689 PMID:1570829 PMID:1619028 PMID:1639410 PMID:1734522 PMID:1956279 PMID:2247149 PMID:2247151 PMID:2401216 PMID:7718558 PMID:7985018 PMID:7987333 PMID:8019555 PMID:8105086 PMID:8257986 PMID:8353496 PMID:9150734 PMID:9443877 PMID:9450909 PMID:9521592 PMID:10843173 PMID:10852465 PMID:12107262 PMID:12409269 PMID:12793612 PMID:20528776 PMID:25741868 PMID:28492532 PMID:28787711 More...
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Sox9 |
SRY-box transcription factor 9 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 10 |
OMIM ClinVar |
PMID:567843 PMID:6620326 PMID:22051515 PMID:25604083 |
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NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
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Nr0b1 |
nuclear receptor subfamily 0, group B, member 1 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 2 |
OMIM ClinVar |
PMID:9486644 |
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NCBI chr X:50,756,886...50,761,014
Ensembl chr X:50,756,886...50,761,011
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Gata4 |
GATA binding protein 4 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED |
ClinVar |
PMID:17643447 PMID:18672102 PMID:19302747 PMID:19678963 PMID:21110066 PMID:21519287 PMID:22011241 PMID:24033266 PMID:25741868 PMID:26014430 PMID:26490186 PMID:26997702 PMID:27899157 PMID:28492532 PMID:29368431 More...
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NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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Nr5a1 |
nuclear receptor subfamily 5, group A, member 1 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 3 |
OMIM ClinVar |
PMID:11932325 PMID:15070943 PMID:15472171 PMID:15579739 PMID:17200175 PMID:17694559 PMID:18414213 PMID:19246354 PMID:22028768 PMID:22907560 PMID:23154282 PMID:25122490 PMID:25326637 PMID:25383892 PMID:25741868 PMID:26523528 PMID:27169744 PMID:27378692 PMID:27490115 PMID:27610946 PMID:27855412 PMID:27899157 PMID:28033660 PMID:28492532 More...
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NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Zfpm2 |
zinc finger protein, multitype 2 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 3 |
ClinVar |
PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24033266 PMID:24549039 PMID:24702427 PMID:25741868 PMID:28492532 More...
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NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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Dmrt1 |
doublesex and mab-3 related transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 4 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333
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Cbx2 |
chromobox 2 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 5 |
OMIM ClinVar |
PMID:19361780 PMID:25741868 |
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NCBI chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383
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Map3k1 |
mitogen-activated protein kinase kinase kinase 1 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 6 |
OMIM ClinVar |
PMID:5419329 PMID:11242112 PMID:12476449 PMID:21129722 PMID:25326637 PMID:25741868 PMID:28492532 PMID:28504475 More...
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NCBI chr 2:43,348,572...43,414,706
Ensembl chr 2:43,350,098...43,414,463
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Dhh |
desert hedgehog signaling molecule |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 7 |
OMIM ClinVar |
PMID:15356051 PMID:25741868 PMID:28492532 PMID:30298535 |
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NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406
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Akr1c2 |
aldo-keto reductase family 1, member C2 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 8 |
OMIM ClinVar |
PMID:4352099 PMID:21802064 PMID:25741868 |
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NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764
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Zfpm2 |
zinc finger protein, multitype 2 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 9 |
OMIM ClinVar |
PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24033266 PMID:24549039 PMID:24702427 PMID:25741868 PMID:28166811 PMID:28492532 PMID:34008892 More...
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NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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Sry |
sex determining region Y |
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ISO |
ClinVar Annotator: match by term: 46,XY true hermaphroditism, SRY-related |
ClinVar |
PMID:1483689 PMID:1570829 PMID:1734522 PMID:1956279 PMID:2247149 PMID:8257986 PMID:9450909 PMID:12793612 More...
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Hsd3b2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
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ISO |
ClinVar Annotator: match by term: 3 beta-Hydroxysteroid dehydrogenase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:295036 PMID:1196451 PMID:1363812 PMID:1825279 PMID:2755580 PMID:4539073 PMID:7633460 PMID:8060486 PMID:8185809 PMID:8316254 PMID:9719627 PMID:10486704 PMID:10599696 PMID:10651755 PMID:10656999 PMID:10770215 PMID:10843183 PMID:10973654 PMID:11196452 PMID:11287026 PMID:12050213 PMID:12050224 PMID:14966389 PMID:16648810 PMID:17689071 PMID:18252794 PMID:22343390 PMID:24033266 PMID:25526675 PMID:25741868 PMID:26021573 PMID:26288759 PMID:26467025 PMID:27626911 PMID:27796263 PMID:27899157 PMID:28207417 PMID:28492532 PMID:28870780 PMID:30668521 PMID:31006099 PMID:31611844 PMID:34055358 More...
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NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
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Ap4m1 |
adaptor related protein complex 4 subunit mu 1 |
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ISO |
ClinVar Annotator: match by term: Alazami-Yuan syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
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Taf6 |
TATA-box binding protein associated factor 6 |
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ISO |
ClinVar Annotator: match by term: Alazami-Yuan syndrome |
OMIM ClinVar |
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532 |
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NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247
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Cldn14 |
claudin 14 |
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ISO |
ClinVar Annotator: match by term: Alport syndrome |
ClinVar |
PMID:30311386 |
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NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171
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Col4a3 |
collagen type IV alpha 3 chain |
susceptibility |
ISO |
DNA:deletion, nonsense mutations ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:1400291 PMID:7780062 PMID:7987301 PMID:7987396 PMID:8956999 PMID:9195222 PMID:9269635 PMID:11044206 PMID:11134255 PMID:11961012 PMID:12028435 PMID:12631109 PMID:14582039 PMID:14871398 PMID:15880327 PMID:15954103 PMID:16199547 PMID:17216251 PMID:18385178 PMID:18436078 PMID:19525337 PMID:20847057 PMID:21157337 PMID:21862460 PMID:21897443 PMID:22887978 PMID:23325022 PMID:23927549 PMID:23967202 PMID:24033266 PMID:24052634 PMID:24130771 PMID:24633401 PMID:24854265 PMID:24944784 PMID:25229338 PMID:25307543 PMID:25407002 PMID:25450602 PMID:25514610 PMID:25575550 PMID:25596306 PMID:25741868 PMID:25888712 PMID:26277931 PMID:26346198 PMID:26467025 PMID:26795916 PMID:26809805 PMID:26934356 PMID:27281700 PMID:27391953 PMID:27485810 PMID:27627812 PMID:27859054 PMID:27932480 PMID:28117080 PMID:28492532 PMID:28542346 PMID:28570636 PMID:28632965 PMID:28658201 PMID:28780565 PMID:29098738 PMID:29127259 PMID:29204651 PMID:29270492 PMID:29271581 PMID:29854973 PMID:29924831 PMID:29946535 PMID:30245029 PMID:30295827 PMID:30311386 PMID:30406062 PMID:30476138 PMID:30487145 PMID:30661074 PMID:30773290 PMID:30819905 PMID:30881523 PMID:30883042 PMID:31027891 PMID:31256874 PMID:31477057 PMID:31865346 PMID:32860008 PMID:33369211 PMID:33532864 PMID:7987301 More...
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RGD:1600924 |
NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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Col4a4 |
collagen type IV alpha 4 chain |
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ISO |
ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane |
ClinVar |
PMID:1721625 PMID:9536098 PMID:9792860 PMID:11134255 PMID:11685592 PMID:11961012 PMID:12028435 PMID:12325029 PMID:12631110 PMID:14582039 PMID:14871398 PMID:15618242 PMID:15880327 PMID:16199547 PMID:17216251 PMID:17396119 PMID:17576681 PMID:19129241 PMID:19675380 PMID:20029656 PMID:21196518 PMID:22887978 PMID:23349334 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24052634 PMID:24130771 PMID:24472419 PMID:24522496 PMID:24854265 PMID:25229338 PMID:25307543 PMID:25381091 PMID:25514610 PMID:25525159 PMID:25575550 PMID:25741868 PMID:25755845 PMID:26467025 PMID:26809805 PMID:26934356 PMID:27281700 PMID:27365461 PMID:27884173 PMID:28059119 PMID:28492532 PMID:28632965 PMID:28780565 PMID:28844315 PMID:28968992 PMID:29098738 PMID:29496980 PMID:29742505 PMID:29924831 PMID:30406062 PMID:30647093 PMID:30745910 PMID:31049720 PMID:31408864 PMID:31922066 PMID:33048202 PMID:33532864 PMID:33838161 More...
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NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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Col4a5 |
collagen type IV alpha 5 chain |
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ISO |
Alport Syndrome, OMIM:301050, DNA:deletion:exons ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane |
ClinVar RGD |
PMID:2349482 PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651292 PMID:8651296 PMID:8940267 PMID:9195222 PMID:9848783 PMID:10563487 PMID:10752524 PMID:11223851 PMID:14514738 PMID:15044104 PMID:15780079 PMID:15954103 PMID:17396119 PMID:18083113 PMID:19344236 PMID:19728970 PMID:19919694 PMID:19965530 PMID:20378821 PMID:21332469 PMID:23572034 PMID:23720012 PMID:24130771 PMID:24304881 PMID:24470729 PMID:24854265 PMID:25525159 PMID:25741868 PMID:26467025 PMID:26809805 PMID:26934356 PMID:27627812 PMID:28492532 PMID:28542346 PMID:28844315 PMID:29127259 PMID:29142990 PMID:29526710 PMID:29854973 PMID:30577881 PMID:30655312 PMID:30691124 PMID:30773290 PMID:31850286 PMID:31922066 PMID:32405592 PMID:33532864 PMID:34008892 PMID:2349482 More...
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RGD:1600687 |
NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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Il1b |
interleukin 1 beta |
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ISO |
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RGD |
PMID:22937108 |
RGD:7175090 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Mmp12 |
matrix metallopeptidase 12 |
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ISO |
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RGD |
PMID:16816359 |
RGD:7241212 |
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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G |
Mmp3 |
matrix metallopeptidase 3 |
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ISO |
protein:increased expression:kidney |
RGD |
PMID:16509766 |
RGD:7241252 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Myh9 |
myosin, heavy chain 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10973259 |
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NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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G |
Myo15a |
myosin XVA |
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ISO |
ClinVar Annotator: match by term: Alport syndrome |
ClinVar |
PMID:30311386 |
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NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
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RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:polymorphism: :HLA-DRB1*16 (human) |
RGD |
PMID:15182324 |
RGD:7365078 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Col4a6 |
collagen type IV alpha 6 chain |
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ISO |
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OMIM |
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NCBI chr X:104,766,463...105,117,499
Ensembl chr X:104,766,957...105,117,500
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G |
Abcc4 |
ATP binding cassette subfamily C member 4 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:95,541,186...95,774,898
Ensembl chr15:95,542,315...95,774,283
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G |
Abhd13 |
abhydrolase domain containing 13 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr16:79,501,879...79,516,712
Ensembl chr16:79,501,727...79,516,748
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G |
Ankrd10 |
ankyrin repeat domain 10 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr16:77,866,489...77,889,745
Ensembl chr16:77,864,261...77,889,745
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G |
Arglu1 |
arginine and glutamate rich 1 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr16:80,753,300...80,777,350
Ensembl chr16:80,753,315...80,777,349
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G |
Bivm |
basic, immunoglobulin-like variable motif containing |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr 9:46,268,758...46,305,038
Ensembl chr 9:46,269,252...46,305,024
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G |
Cars2 |
cysteinyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr16:77,945,468...77,987,163
Ensembl chr16:77,950,008...77,987,772
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G |
Ccdc168 |
coiled-coil domain containing 168 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr 9:46,198,234...46,236,325
Ensembl chr 9:46,198,635...46,235,936
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G |
Cldn10 |
claudin 10 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:95,862,785...95,954,526
Ensembl chr15:95,862,760...95,954,526
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G |
Clybl |
citramalyl-CoA lyase |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:99,283,644...99,505,697
Ensembl chr15:99,283,650...99,505,695
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G |
Col4a1 |
collagen type IV alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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G |
Col4a2 |
collagen type IV alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
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G |
Dct |
dopachrome tautomerase |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:95,062,006...95,100,863
Ensembl chr15:95,062,003...95,100,836
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G |
Dnajc3 |
DnaJ heat shock protein family (Hsp40) member C3 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:96,025,729...96,065,114
Ensembl chr15:96,025,624...96,065,181
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Dock9 |
dedicator of cytokinesis 9 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:98,611,518...98,883,306
Ensembl chr15:98,618,084...98,883,153
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Dzip1 |
DAZ interacting zinc finger protein 1 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:95,956,329...96,009,994
Ensembl chr15:95,956,398...96,010,066
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G |
Efnb2 |
ephrin B2 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr16:80,783,389...80,827,420
Ensembl chr16:80,783,417...80,824,391
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G |
Ercc5 |
ERCC excision repair 5, endonuclease |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
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G |
Farp1 |
FERM, ARH/RhoGEF and pleckstrin domain protein 1 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:98,124,304...98,363,299
Ensembl chr15:98,182,329...98,363,299
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G |
Fgf14 |
fibroblast growth factor 14 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:101,045,038...101,679,888
Ensembl chr15:101,045,036...101,679,900
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Ggact |
gamma-glutamylamine cyclotransferase |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:99,969,246...99,998,343
Ensembl chr15:99,968,282...99,993,455
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Gpc6 |
glypican 6 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:94,030,218...95,027,883
Ensembl chr15:94,029,884...95,024,006
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G |
Gpr18 |
G protein-coupled receptor 18 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:98,997,427...99,001,177
Ensembl chr15:98,997,259...99,001,470
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Gpr180 |
G protein-coupled receptor 180 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:95,195,782...95,224,955
Ensembl chr15:95,199,777...95,228,373
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Gpr183 |
G protein-coupled receptor 183 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:99,037,764...99,050,550
Ensembl chr15:99,036,367...99,050,559
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G |
Hs6st3 |
heparan sulfate 6-O-sulfotransferase 3 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:96,281,502...97,000,804
Ensembl chr15:96,281,646...97,000,462
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Ing1 |
inhibitor of growth family, member 1 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr16:77,937,276...77,945,320
Ensembl chr16:77,937,279...77,946,264
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Ipo5 |
importin 5 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:97,990,755...98,041,074
Ensembl chr15:98,005,299...98,041,126
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G |
Irs2 |
insulin receptor substrate 2 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
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G |
Itgbl1 |
integrin subunit beta like 1 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:100,780,184...101,041,734
Ensembl chr15:100,780,184...101,041,733
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Lig4 |
DNA ligase 4 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040
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G |
Mbnl2 |
muscleblind-like splicing regulator 2 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:97,385,238...97,542,924
Ensembl chr15:97,385,244...97,542,937
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G |
Mettl21c |
methyltransferase like 21C |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr 9:46,130,451...46,145,128
Ensembl chr 9:46,134,001...46,145,112
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G |
Myo16 |
myosin XVI |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr16:78,884,405...79,364,445
Ensembl chr16:78,884,406...79,248,388
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G |
Nalcn |
sodium leak channel, non-selective |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001
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G |
Nalf1 |
NALCN channel auxiliary factor 1 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr16:79,713,577...80,236,424
Ensembl chr16:79,713,724...80,235,120
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G |
Naxd |
NAD(P)HX dehydratase |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr16:77,986,148...78,004,200
Ensembl chr16:77,987,726...78,004,192
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G |
Oxgr1 |
oxoglutarate receptor 1 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:97,145,947...97,146,960
Ensembl chr15:97,144,293...97,166,612
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G |
Pcca |
propionyl-CoA carboxylase subunit alpha |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266
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G |
Poglut2 |
protein O-glucosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr 9:46,256,388...46,268,714
Ensembl chr 9:46,256,390...46,268,532
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G |
Rab20 |
RAB20, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr16:78,019,337...78,043,529
Ensembl chr16:78,019,337...78,043,529
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G |
Rap2a |
RAP2A, member of RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:97,596,848...97,597,338
Ensembl chr15:97,596,020...97,624,138
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G |
Slc10a2 |
solute carrier family 10 member 2 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr16:84,386,528...84,409,475
Ensembl chr16:84,374,862...84,409,475
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G |
Slc15a1 |
solute carrier family 15 member 1 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:98,537,641...98,582,544
Ensembl chr15:98,537,641...98,582,545
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G |
Sox21 |
SRY-box transcription factor 21 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:95,292,272...95,295,316
Ensembl chr15:95,292,265...95,296,091
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G |
Stk24 |
serine/threonine kinase 24 |
|
ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:98,363,707...98,458,940
Ensembl chr15:98,365,791...98,460,553
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G |
Tex30 |
testis expressed 30 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr 9:46,242,748...46,252,273
Ensembl chr 9:46,242,748...46,252,249
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G |
Tgds |
TDP-glucose 4,6-dehydratase |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:95,174,607...95,195,577
Ensembl chr15:95,174,608...95,195,554
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G |
Tm9sf2 |
transmembrane 9 superfamily member 2 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:99,201,556...99,254,054
Ensembl chr15:99,201,489...99,254,049
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G |
Tmtc4 |
transmembrane O-mannosyltransferase targeting cadherins 4 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:100,000,157...100,056,573
Ensembl chr15:100,000,152...100,056,543
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G |
Tnfsf13b |
TNF superfamily member 13b |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr16:79,462,406...79,492,888
Ensembl chr16:79,462,402...79,492,693
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G |
Tpp2 |
tripeptidyl peptidase 2 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157
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G |
Ubac2 |
UBA domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:98,960,139...99,107,795
Ensembl chr15:98,960,139...99,107,787
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G |
Uggt2 |
UDP-glucose glycoprotein glucosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:96,074,557...96,239,365
Ensembl chr15:96,074,564...96,237,806
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G |
Zic2 |
Zic family member 2 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:99,576,697...99,581,522
Ensembl chr15:99,576,697...99,581,522
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G |
Zic5 |
Zic family member 5 |
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ISO |
ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion |
ClinVar |
PMID:31690835 |
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NCBI chr15:99,558,229...99,567,035
Ensembl chr15:99,560,323...99,567,035
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G |
Ar |
androgen receptor |
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ISO IEP |
ClinVar Annotator: match by term: Androgen resistance syndrome DNA:missense mutation:exon:p.M749V (human) DNA:missense mutations, repeats:exon:p.V866L, p.R607Y (human) DNA:missense mutation:exon:p.R615S (human) DNA:point mutation, repeats:exon DNA:deletion protein:altered localization:spinal cord, motor neuron, cytoplasm CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:1158706 PMID:1303262 PMID:1307250 PMID:1430233 PMID:1458719 PMID:1480178 PMID:1508223 PMID:1569163 PMID:1598912 PMID:1609793 PMID:1720929 PMID:1750490 PMID:1775137 PMID:2082179 PMID:2293020 PMID:2332504 PMID:2339702 PMID:2594783 PMID:3174628 PMID:3186717 PMID:3216866 PMID:4061484 PMID:7537149 PMID:7581399 PMID:7626493 PMID:7641413 PMID:7671849 PMID:7723794 PMID:7910529 PMID:7970939 PMID:7981687 PMID:7981689 PMID:8033918 PMID:8040309 PMID:8096390 PMID:8097257 PMID:8126121 PMID:8162033 PMID:8281139 PMID:8325932 PMID:8339746 PMID:8413310 PMID:8450040 PMID:8450042 PMID:8626869 PMID:8647313 PMID:8723113 PMID:8809734 PMID:8823308 PMID:8824883 PMID:8990010 PMID:9007482 PMID:9039340 PMID:9196614 PMID:9328206 PMID:9360511 PMID:9536098 PMID:9543136 PMID:9544375 PMID:9576916 PMID:9627582 PMID:9698822 PMID:9768671 PMID:9788719 PMID:9851768 PMID:9856504 PMID:10022458 PMID:10092153 PMID:10221770 PMID:10323251 PMID:10323385 PMID:10359561 PMID:10425033 PMID:10458483 PMID:10571951 PMID:10690872 PMID:10834333 PMID:10840043 PMID:11181525 PMID:11225909 PMID:11376111 PMID:11397856 PMID:11549642 PMID:11579211 PMID:11587068 PMID:11744994 PMID:11788616 PMID:11788645 PMID:11788673 PMID:11889162 PMID:12068007 PMID:12213902 PMID:12466388 PMID:12705360 PMID:12843171 PMID:14974091 PMID:15266301 PMID:15531547 PMID:15541764 PMID:15925895 PMID:15963062 PMID:16083860 PMID:16199547 PMID:16283146 PMID:16365032 PMID:16373394 PMID:16450583 PMID:17054461 PMID:17161333 PMID:17576681 PMID:17937062 PMID:18710728 PMID:19463997 PMID:20007693 PMID:20011049 PMID:20150575 PMID:20493947 PMID:20671138 PMID:21520333 PMID:21730179 PMID:21962961 PMID:22334387 PMID:22412043 PMID:22995991 PMID:23106833 PMID:23774508 PMID:24033266 PMID:24186138 PMID:24321103 PMID:24737579 PMID:24790346 PMID:25241384 PMID:25248670 PMID:25326637 PMID:25433660 PMID:25613104 PMID:25674389 PMID:25741868 PMID:26303084 PMID:26688387 PMID:26778393 PMID:26806084 PMID:26813233 PMID:26980296 PMID:27267075 PMID:27403927 PMID:27583472 PMID:27854360 PMID:27899157 PMID:28186600 PMID:28261839 PMID:28456808 PMID:28492532 PMID:28624954 PMID:28857053 PMID:29051026 PMID:29785970 PMID:30064134 PMID:30316867 PMID:30599484 PMID:30668521 PMID:31012339 PMID:31373714 PMID:31429517 PMID:31499074 PMID:1487249 PMID:8325950 PMID:1424203 PMID:20888558 PMID:7970939 PMID:3186717 PMID:7643075 More...
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RGD:11576240, RGD:11576235, RGD:11576233, RGD:11576232, RGD:11571628, RGD:11571627, RGD:11571622 |
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Fkbp4 |
FKBP prolyl isomerase 4 |
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ISS |
OMIM:300068 |
MouseDO |
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NCBI chr 4:161,703,379...161,711,833
Ensembl chr 4:161,703,379...161,711,833
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G |
Kat7 |
lysine acetyltransferase 7 |
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ISO |
protein:decreased expression:testes (human) |
RGD |
PMID:23707616 |
RGD:9681005 |
NCBI chr10:80,221,519...80,255,590
Ensembl chr10:80,221,524...80,255,567
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G |
Dhx37 |
DEAH-box helicase 37 |
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ISO |
ClinVar Annotator: match by term: Testicular regression syndrome |
OMIM ClinVar |
PMID:25741868 PMID:31287541 PMID:31337883 |
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NCBI chr12:31,194,782...31,214,890
Ensembl chr12:31,194,859...31,216,802
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G |
Por |
cytochrome p450 oxidoreductase |
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ISO |
ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis |
OMIM ClinVar |
PMID:9360545 PMID:12116245 PMID:14513299 PMID:14758361 PMID:15220035 PMID:15483095 PMID:15793702 PMID:16470797 PMID:18551037 PMID:18559916 PMID:20124576 PMID:20188793 PMID:20940534 PMID:21070833 PMID:21741353 PMID:22162478 PMID:24847272 PMID:25741868 PMID:27068427 PMID:28492532 PMID:28841001 PMID:31837199 PMID:33666875 More...
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NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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G |
Ar |
androgen receptor |
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ISO |
ClinVar Annotator: match by term: Gynecomastia, familial |
ClinVar |
PMID:16804045 |
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NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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G |
Cyp19a1 |
cytochrome P450, family 19, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Aromatase deficiency | ClinVar Annotator: match by term: Aromatase excess syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1496995 PMID:1825497 PMID:2973313 PMID:8265607 PMID:8530621 PMID:9177373 PMID:9211678 PMID:9536098 PMID:9718379 PMID:10566648 PMID:12466340 PMID:14602738 PMID:14715828 PMID:16199547 PMID:16882736 PMID:17164303 PMID:17576681 PMID:20048079 PMID:20186154 PMID:23329769 PMID:25088806 PMID:25301327 PMID:25415177 PMID:25741868 PMID:27086564 PMID:27256151 PMID:27693882 PMID:28492532 More...
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NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
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G |
Col4a3 |
collagen type IV alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome |
OMIM ClinVar |
PMID:1400291 PMID:7987301 PMID:7987396 PMID:8956999 PMID:9195222 PMID:9269635 PMID:9536098 PMID:11044206 PMID:11134255 PMID:11961012 PMID:12028435 PMID:14582039 PMID:14871398 PMID:15954103 PMID:16199547 PMID:17216251 PMID:17576681 PMID:20847057 PMID:21157337 PMID:21897443 PMID:22887978 PMID:23325022 PMID:23927549 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24052634 PMID:24130771 PMID:24633401 PMID:24854265 PMID:25229338 PMID:25307543 PMID:25407002 PMID:25450602 PMID:25525159 PMID:25575550 PMID:25596306 PMID:25741868 PMID:26277931 PMID:26346198 PMID:26467025 PMID:26795916 PMID:26809805 PMID:26934356 PMID:27281700 PMID:27391953 PMID:27485810 PMID:27859054 PMID:27932480 PMID:28117080 PMID:28492532 PMID:28542346 PMID:28570636 PMID:28600779 PMID:28658201 PMID:28780565 PMID:28844315 PMID:29098738 PMID:29204651 PMID:29271581 PMID:29801666 PMID:29854973 PMID:29946535 PMID:30295827 PMID:30311386 PMID:30406062 PMID:30476138 PMID:30487145 PMID:30773290 PMID:30819905 PMID:30828794 PMID:31027891 PMID:31256874 PMID:31306228 PMID:31477057 PMID:31625567 PMID:31865346 PMID:32860008 PMID:33369211 PMID:33532864 PMID:33854215 PMID:34113375 PMID:34906502 More...
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NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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G |
Col4a4 |
collagen type IV alpha 4 chain |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Alport syndrome | ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss |
ClinVar |
PMID:9536098 PMID:9792860 PMID:11961012 PMID:12631110 PMID:12748344 PMID:14582039 PMID:15618242 PMID:15954103 PMID:17576681 PMID:19129241 PMID:20301386 PMID:21196518 PMID:21897443 PMID:24033266 PMID:24052634 PMID:24522496 PMID:24633401 PMID:24854265 PMID:25307543 PMID:25525159 PMID:25596306 PMID:25741868 PMID:26467025 PMID:26809805 PMID:27281700 PMID:28492532 PMID:28632965 PMID:28844315 PMID:29801666 PMID:29854973 PMID:30745910 PMID:33369211 PMID:33532864 PMID:33772369 More...
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NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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G |
Col4a5 |
collagen type IV alpha 5 chain |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Alport syndrome |
ClinVar |
PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 PMID:9848783 PMID:19344236 PMID:23720012 PMID:25741868 PMID:27627812 PMID:28492532 PMID:30577881 PMID:30773290 More...
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NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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G |
Myh9 |
myosin, heavy chain 9 |
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ISO |
DNA:missense mutation:exon:4270G>C,D1424H (human) |
RGD |
PMID:12500226 |
RGD:6902925 |
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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G |
Dvl1 |
dishevelled segment polarity protein 1 |
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ISS ISO |
OMIM:180700 ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 |
MouseDO ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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G |
Dvl3 |
dishevelled segment polarity protein 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 |
ClinVar |
PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 |
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NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
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G |
Fzd2 |
frizzled class receptor 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 |
ClinVar |
PMID:25759469 PMID:29276006 |
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NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
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G |
Ror2 |
receptor tyrosine kinase-like orphan receptor 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
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G |
Wnt5a |
Wnt family member 5A |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 |
OMIM ClinVar |
PMID:5771504 PMID:16602827 PMID:18414213 PMID:19918918 PMID:24716670 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29276006 PMID:30760477 More...
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NCBI chr16:3,695,667...3,718,234
Ensembl chr16:3,697,032...3,718,234
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G |
Chn1 |
chimerin 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 |
ClinVar |
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NCBI chr 3:58,509,822...58,676,774
Ensembl chr 3:58,510,536...58,676,490
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G |
Dvl1 |
dishevelled segment polarity protein 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 |
OMIM ClinVar |
PMID:10319206 PMID:23806086 PMID:24088041 PMID:25045061 PMID:25741868 PMID:25817014 PMID:25817016 PMID:26924530 PMID:28492532 PMID:29276006 More...
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NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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G |
Dvl3 |
dishevelled segment polarity protein 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 |
ClinVar |
PMID:29276006 |
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NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
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G |
Fzd2 |
frizzled class receptor 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 |
ClinVar |
PMID:25759469 PMID:29276006 |
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NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
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G |
Dvl3 |
dishevelled segment polarity protein 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 |
OMIM ClinVar |
PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 |
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NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
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G |
Fzd2 |
frizzled class receptor 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 |
ClinVar |
PMID:29276006 |
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NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
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G |
Ccr1 |
C-C motif chemokine receptor 1 |
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ISO |
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RGD |
PMID:15716328 |
RGD:5688157 |
NCBI chr 8:123,556,286...123,561,841
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G |
Col4a3 |
collagen type IV alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome |
OMIM ClinVar |
PMID:1400291 PMID:7633417 PMID:7780062 PMID:7987301 PMID:7987396 PMID:8956999 PMID:9195222 PMID:9269635 PMID:9536098 PMID:9647515 PMID:11044206 PMID:11134255 PMID:11961012 PMID:12028435 PMID:14582039 PMID:14871398 PMID:15954103 PMID:16199547 PMID:17216251 PMID:17396119 PMID:17576681 PMID:18385178 PMID:18436078 PMID:20847057 PMID:21157337 PMID:21897443 PMID:22887978 PMID:23297803 PMID:23927549 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24052634 PMID:24130771 PMID:24633401 PMID:24854265 PMID:24944784 PMID:25229338 PMID:25307543 PMID:25381091 PMID:25407002 PMID:25450602 PMID:25514610 PMID:25525159 PMID:25575550 PMID:25596306 PMID:25741868 PMID:25888712 PMID:26277931 PMID:26346198 PMID:26467025 PMID:26594346 PMID:26795916 PMID:26809805 PMID:26934356 PMID:27281700 PMID:27485810 PMID:27627812 PMID:27796712 PMID:27859054 PMID:27932480 PMID:28117080 PMID:28492532 PMID:28542346 PMID:28570636 PMID:28632965 PMID:28658201 PMID:28780565 PMID:29127259 PMID:29204651 PMID:29270492 PMID:29271581 PMID:29801666 PMID:29854973 PMID:29946535 PMID:30311386 PMID:30406062 PMID:30487145 PMID:30773290 PMID:30819905 PMID:30881523 PMID:31027891 PMID:31256874 PMID:31306228 PMID:31477057 PMID:31807928 PMID:31865346 PMID:32860008 PMID:33369211 PMID:33532864 PMID:33854215 PMID:34400539 More...
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NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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G |
Col4a4 |
collagen type IV alpha 4 chain |
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ISO |
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Alport syndrome type 2 | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome |
OMIM ClinVar |
PMID:7987396 PMID:8787673 PMID:9195222 PMID:9792860 PMID:11961012 PMID:12028435 PMID:12325029 PMID:12631110 PMID:12748344 PMID:14582039 PMID:15618242 PMID:15954103 PMID:16199547 PMID:16338941 PMID:17216251 PMID:17396119 PMID:19129241 PMID:19675380 PMID:20029656 PMID:20301386 PMID:21196518 PMID:21897443 PMID:22887978 PMID:23349334 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24052634 PMID:24522496 PMID:24633401 PMID:24854265 PMID:25229338 PMID:25307543 PMID:25381091 PMID:25514610 PMID:25525159 PMID:25596306 PMID:25741868 PMID:25755845 PMID:26467025 PMID:26628290 PMID:26809805 PMID:26934356 PMID:27281700 PMID:28117080 PMID:28492532 PMID:28542346 PMID:28632965 PMID:28844315 PMID:28968992 PMID:29098738 PMID:29496980 PMID:29801666 PMID:30406062 PMID:30647093 PMID:30745910 PMID:30883042 PMID:31408864 PMID:33048202 PMID:33369211 PMID:33532864 PMID:33838161 More...
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NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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G |
Mpv17 |
mitochondrial inner membrane protein MPV17 |
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ISS |
OMIM:203780 |
MouseDO |
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NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244
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G |
Prickle1 |
prickle planar cell polarity protein 1 |
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ISS |
OMIM:268310 |
MouseDO |
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NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
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G |
Ror2 |
receptor tyrosine kinase-like orphan receptor 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive Robinow syndrome | ClinVar Annotator: match by term: COVESDEM SYNDROME | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly CTD Direct Evidence: marker/mechanism DNA:missense mutations:exons: c.545G>A (p.C182Y),c.227G>A (p.G76D), c.668G>A (p.C223Y)(human) DNA:nonsense mutation:cds:p.W749X(mouse) |
OMIM ClinVar CTD RGD |
PMID:10932186 PMID:10932187 PMID:10986040 PMID:12815588 PMID:15952209 PMID:16049033 PMID:17665217 PMID:18252861 PMID:18414213 PMID:18831060 PMID:19640924 PMID:25741868 PMID:26284319 PMID:28492532 PMID:24932600 PMID:14745966 PMID:18353862 More...
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RGD:11537348, RGD:11537347, RGD:11535948 |
NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
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G |
Nxn |
nucleoredoxin |
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ISO |
ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive 2 |
OMIM ClinVar |
PMID:25741868 PMID:29276006 |
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NCBI chr10:61,109,323...61,247,576
Ensembl chr10:61,110,020...61,248,251
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G |
Fbln1 |
fibulin 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects |
ClinVar |
PMID:24084572 |
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NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
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G |
Top2b |
DNA topoisomerase II beta |
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ISO |
ClinVar Annotator: match by term: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations |
OMIM ClinVar |
PMID:11152140 PMID:11476068 PMID:15521984 PMID:21204224 PMID:22002929 PMID:31409799 PMID:32128574 PMID:33459963 More...
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NCBI chr15:9,051,661...9,111,220
Ensembl chr15:9,051,341...9,112,085
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Ripk4 |
receptor-interacting serine-threonine kinase 4 |
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ISO |
ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE |
OMIM ClinVar |
PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 PMID:23610050 PMID:25326635 PMID:25741868 PMID:26752647 PMID:28492532 PMID:28940926 More...
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NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
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Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
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ISO |
ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 2 |
OMIM ClinVar |
PMID:25691407 |
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NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations |
ClinVar |
PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 PMID:19293843 PMID:19349279 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Thoc6 |
THO complex 6 |
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ISO |
ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome | ClinVar Annotator: match by term: Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations |
OMIM ClinVar |
PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 PMID:27102954 PMID:27295358 PMID:30238602 PMID:30476144 PMID:32790266 More...
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NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925
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Npnt |
nephronectin |
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ISS |
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MouseDO |
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NCBI chr 2:221,391,151...221,459,527
Ensembl chr 2:221,391,153...221,459,401
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Lztr1 |
leucine-zipper-like transcription regulator 1 |
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ISO |
ClinVar Annotator: match by term: Bladder exstrophy |
ClinVar |
PMID:28492532 |
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NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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Tp63 |
tumor protein p63 |
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ISS |
OMIM:600057 |
MouseDO |
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NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Fzd5 |
frizzled class receptor 5 |
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ISO |
ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex |
ClinVar |
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NCBI chr 9:66,117,370...66,119,127
Ensembl chr 9:66,113,112...66,121,457
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Isl1 |
ISL LIM homeobox 1 |
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ISO |
ClinVar Annotator: match by term: BLADDER EXSTROPHY AND EPISPADIAS COMPLEX | ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex |
ClinVar |
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NCBI chr 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584
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Lrp10 |
LDL receptor related protein 10 |
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ISO |
ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex |
ClinVar |
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NCBI chr15:27,921,105...27,927,507
Ensembl chr15:27,920,259...27,927,505
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Tp63 |
tumor protein p63 |
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ISO |
DNA:deletion, insertion, SNPs: :multiple |
RGD |
PMID:23284286 |
RGD:11568641 |
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Wnt10a |
Wnt family member 10A |
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ISO |
ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex |
ClinVar |
PMID:22581971 PMID:23401279 PMID:24398796 PMID:28492532 PMID:30426266 |
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NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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Wnt11 |
Wnt family member 11 |
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ISO |
ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex |
ClinVar |
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NCBI chr 1:153,134,503...153,154,294
Ensembl chr 1:153,138,197...153,154,294
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Wnt3 |
Wnt family member 3 |
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ISO |
ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex |
ClinVar |
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NCBI chr10:88,680,248...88,724,170
Ensembl chr10:88,680,248...88,724,099
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Wnt6 |
Wnt family member 6 |
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ISO |
ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex |
ClinVar |
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NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523
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Wnt7a |
Wnt family member 7A |
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ISO |
ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex |
ClinVar |
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NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981
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Foxl2 |
forkhead box L2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1 |
CTD ClinVar |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12567411 PMID:12630957 PMID:12938087 PMID:16219626 PMID:17089161 PMID:18372316 PMID:20429427 PMID:21889601 PMID:25741868 More...
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NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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Foxl2 |
forkhead box L2 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure |
ClinVar |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:18372316 PMID:21325395 PMID:25741868 More...
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NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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Copb2 |
COPI coat complex subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome |
ClinVar |
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NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197
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Foxl2 |
forkhead box L2 |
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ISO |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:19429596 PMID:25741868 PMID:28492532 PMID:11175783 More...
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RGD:1598958 |
NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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Mrps22 |
mitochondrial ribosomal protein S22 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome |
ClinVar |
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NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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Bmp4 |
bone morphogenetic protein 4 |
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ISO |
DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) |
RGD |
PMID:21927809 |
RGD:13446406 |
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Mmp9 |
matrix metallopeptidase 9 |
treatment |
ISO |
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RGD |
PMID:27448803 |
RGD:13204792 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Tbx18 |
T-box transcription factor 18 |
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ISO |
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction |
OMIM ClinVar |
PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 |
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NCBI chr 8:88,652,054...88,680,081
Ensembl chr 8:88,652,054...88,680,058
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Timp1 |
TIMP metallopeptidase inhibitor 1 |
treatment |
ISO |
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RGD |
PMID:27448803 |
RGD:13204792 |
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Sox9 |
SRY-box transcription factor 9 |
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ISO |
ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal |
ClinVar |
PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 PMID:9002675 PMID:11076045 PMID:11323423 PMID:15806394 PMID:25741868 PMID:26633542 PMID:28492532 More...
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NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
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Myrf |
myelin regulatory factor |
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ISO |
ClinVar Annotator: match by term: Cardiac-urogenital syndrome |
OMIM ClinVar |
PMID:25741868 PMID:29446546 PMID:30070761 PMID:30532227 PMID:34782754 |
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NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
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Hhat |
hedgehog acyltransferase |
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ISO |
ClinVar Annotator: match by term: Chondrodysplasia-pseudohermaphroditism syndrome |
OMIM ClinVar |
PMID:24784881 PMID:30912300 |
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NCBI chr13:104,024,507...104,283,581
Ensembl chr13:104,010,916...104,282,893
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Elp4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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Pax6 |
paired box 6 |
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ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Wt1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
PMID:23349334 PMID:25741868 PMID:28492532 |
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NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Avpr1a |
arginine vasopressin receptor 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17218722 |
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NCBI chr 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215
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Avpr2 |
arginine vasopressin receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17218722 |
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NCBI chr X:151,633,501...151,636,000
Ensembl chr X:151,633,522...151,635,989
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Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
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ISO |
DNA:splice-site mutation |
RGD |
PMID:12161514 |
RGD:1599693 |
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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Cyp11b1 |
cytochrome P450, family 11, subfamily b, polypeptide 1 |
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ISO |
11-beta-hydroxylase deficiency, OMIM:202010; DNA:mutations:multiple (human) DNA:frameshift mutation:cds:p.394fsX469 (human) |
RGD |
PMID:8964882 PMID:1430088 |
RGD:1600799, RGD:734864 |
NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278
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Cyp11b2 |
cytochrome P450, family 11, subfamily b, polypeptide 2 |
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ISS ISO |
OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110 ClinVar Annotator: match by term: Congenital adrenal hyperplasia |
MouseDO ClinVar |
PMID:8506298 PMID:9302260 PMID:9546661 PMID:12452430 PMID:15026188 PMID:15062555 PMID:16046588 PMID:16670167 PMID:17371482 PMID:20089618 PMID:25525159 PMID:25741868 PMID:25911436 PMID:25913739 PMID:26053152 PMID:26467025 PMID:26476331 PMID:26956189 PMID:27316665 PMID:28492532 PMID:29626607 PMID:33785438 PMID:33830237 More...
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NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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Cyp11b3 |
cytochrome P450, family 11, subfamily b, polypeptide 3 |
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ISS |
OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110 |
MouseDO |
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NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
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Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
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ISO |
DNA:mutations:cds:multiple (human) ClinVar Annotator: match by term: Congenital adrenal hyperplasia CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:8396144 PMID:9326943 PMID:9601054 PMID:11549685 PMID:12466376 PMID:14715827 PMID:14747197 PMID:18645707 PMID:19636199 PMID:25741868 PMID:28492532 PMID:31636948 PMID:33864926 PMID:2026124 More...
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RGD:4889141 |
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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Cyp21a1 |
cytochrome P450, family 21, subfamily a, polypeptide 1 |
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ISO |
DNA:mutations:cds:multiple (human) |
RGD |
PMID:12930931 |
RGD:4889127 |
NCBI chr20:4,020,217...4,026,923
Ensembl chr20:4,023,767...4,026,923
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Hsd3b2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital adrenal hyperplasia |
CTD ClinVar |
PMID:7633460 PMID:8060486 PMID:10599696 PMID:10651755 PMID:10656999 PMID:10770215 PMID:10973654 PMID:11196452 PMID:12050224 PMID:18252794 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30668521 PMID:34055358 More...
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NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
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Htr4 |
5-hydroxytryptamine receptor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17218722 |
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NCBI chr18:55,765,981...55,949,921
Ensembl chr18:55,766,725...55,949,321
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Pde8b |
phosphodiesterase 8B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18272904 |
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NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209
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Por |
cytochrome p450 oxidoreductase |
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ISO |
DNA:missense mutations:cds:p.A287P, p.H628P (human) ClinVar Annotator: match by term: Congenital adrenal hyperplasia CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:14758361 PMID:15220035 PMID:15350602 PMID:15793702 PMID:17635179 PMID:18551037 PMID:18559916 PMID:18930113 PMID:19837910 PMID:22162478 PMID:22462747 PMID:23365120 PMID:27068427 PMID:17505056 More...
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RGD:4889128 |
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15521956 |
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NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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Ren |
renin |
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ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:31505456 |
RGD:125097501 |
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Star |
steroidogenic acute regulatory protein |
susceptibility |
ISO ISS |
DNA:transversion:intron:g.IVS4-11T>A (human) ClinVar Annotator: match by term: Congenital adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid CAH OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110 |
ClinVar MouseDO RGD |
PMID:7892608 PMID:8634702 PMID:8943003 PMID:8948562 PMID:9077535 PMID:9097960 PMID:9141542 PMID:9215316 PMID:10215405 PMID:10323391 PMID:10486704 PMID:10566637 PMID:10700722 PMID:11061515 PMID:11279152 PMID:11509019 PMID:12725533 PMID:14764819 PMID:15347444 PMID:15546900 PMID:15666846 PMID:15985476 PMID:16103714 PMID:16118340 PMID:16199547 PMID:16968793 PMID:17301050 PMID:18729825 PMID:19245813 PMID:19773404 PMID:20444910 PMID:21164258 PMID:21647419 PMID:21846663 PMID:22028173 PMID:22083155 PMID:22903695 PMID:23211570 PMID:23748066 PMID:23859637 PMID:23920000 PMID:24790358 PMID:24904850 PMID:24953586 PMID:25525159 PMID:25741868 PMID:25883920 PMID:26467025 PMID:26523528 PMID:26650942 PMID:26827627 PMID:27047663 PMID:28467518 PMID:28492532 PMID:28546232 PMID:28637490 PMID:29576868 PMID:30400872 PMID:30476142 PMID:31286101 PMID:8634702 PMID:9326645 More...
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RGD:1600070, RGD:4145592 |
NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
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Tnxb |
tenascin XB |
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ISO |
ClinVar Annotator: match by term: Congenital adrenal hyperplasia |
ClinVar |
PMID:1864962 PMID:3038528 PMID:3267225 PMID:8034294 PMID:8741909 PMID:9378109 PMID:10408786 PMID:10908170 PMID:11220701 PMID:12220458 PMID:12384784 PMID:14715874 PMID:15858147 PMID:17164306 PMID:19773403 PMID:20301350 PMID:21532487 PMID:23269230 PMID:23359698 PMID:23769969 PMID:24033266 PMID:25481255 PMID:25525159 PMID:25538881 PMID:25741868 PMID:26209023 PMID:26467025 PMID:26804566 PMID:28392195 PMID:28401898 PMID:28644547 PMID:28819757 PMID:29386111 PMID:29715434 PMID:30048636 PMID:30833958 PMID:30889569 PMID:30995443 PMID:31159521 PMID:31446012 PMID:31571129 PMID:31586465 PMID:31637888 PMID:31980526 PMID:32185686 PMID:32272826 PMID:32358738 PMID:32367404 PMID:32647925 PMID:32714392 PMID:32903448 PMID:33083013 PMID:33240318 PMID:33710594 PMID:33715135 PMID:34540367 More...
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Cyp11b2 |
cytochrome P450, family 11, subfamily b, polypeptide 2 |
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ISO |
ClinVar Annotator: match by term: 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: P450c11b1 deficiency |
OMIM ClinVar |
PMID:1430088 PMID:2022736 PMID:3295546 PMID:7049883 PMID:7903314 PMID:8506298 PMID:8768848 PMID:8964882 PMID:8989319 PMID:9302260 PMID:9435454 PMID:9536098 PMID:9546661 PMID:10487675 PMID:11095433 PMID:11549691 PMID:12452430 PMID:12966519 PMID:15026188 PMID:15062555 PMID:15324322 PMID:15751602 PMID:15755848 PMID:15807871 PMID:16030166 PMID:16046588 PMID:16199547 PMID:16670167 PMID:16984984 PMID:17121536 PMID:17296872 PMID:17371482 PMID:17576681 PMID:17692261 PMID:17726333 PMID:18663314 PMID:19204079 PMID:19820005 PMID:20024693 PMID:20089618 PMID:22465514 PMID:22964742 PMID:23345044 PMID:23940125 PMID:23940126 PMID:24022297 PMID:24033266 PMID:24334966 PMID:24536089 PMID:24987415 PMID:25525159 PMID:25741868 PMID:25911436 PMID:25913739 PMID:26053152 PMID:26066897 PMID:26265915 PMID:26280318 PMID:26300845 PMID:26467025 PMID:26476331 PMID:26525354 PMID:26806323 PMID:26956189 PMID:27376426 PMID:27376433 PMID:27821898 PMID:28228528 PMID:28492532 PMID:28962970 PMID:29626607 PMID:29858860 PMID:31006099 More...
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NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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Cyp19a1 |
cytochrome P450, family 19, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
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Igfals |
insulin-like growth factor binding protein, acid labile subunit |
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ISO |
protein:decreased expression:serum |
RGD |
PMID:21636299 |
RGD:12910854 |
NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
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Igfbp3 |
insulin-like growth factor binding protein 3 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:21636299 |
RGD:12910854 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Por |
cytochrome p450 oxidoreductase |
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ISO |
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
ClinVar |
PMID:21070833 PMID:24847272 PMID:25741868 PMID:27068427 PMID:28492532 PMID:33666875 More...
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NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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Tnxb |
tenascin XB |
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ISO |
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
ClinVar |
PMID:1496017 PMID:1644925 PMID:1864962 PMID:2303461 PMID:3038528 PMID:3267225 PMID:8034294 PMID:8741909 PMID:9215318 PMID:9378109 PMID:10408786 PMID:10496074 PMID:10720040 PMID:10908170 PMID:11220701 PMID:12220458 PMID:12384784 PMID:14513879 PMID:14715874 PMID:15110320 PMID:15858147 PMID:16788163 PMID:17119906 PMID:17164306 PMID:19204079 PMID:19505723 PMID:19773403 PMID:20301350 PMID:21134444 PMID:21169732 PMID:21228398 PMID:21329531 PMID:21532487 PMID:21534945 PMID:22841790 PMID:23166432 PMID:23241443 PMID:23269230 PMID:23359698 PMID:23359706 PMID:23769969 PMID:24033266 PMID:24077358 PMID:24904866 PMID:25227725 PMID:25481255 PMID:25525159 PMID:25538881 PMID:25630015 PMID:25741868 PMID:26206692 PMID:26209023 PMID:26467025 PMID:26804566 PMID:28392195 PMID:28401898 PMID:28644547 PMID:28741757 PMID:28819757 PMID:29386111 PMID:29715434 PMID:29996815 PMID:30048636 PMID:30833958 PMID:30889569 PMID:30968594 PMID:30995443 PMID:31159521 PMID:31446012 PMID:31571129 PMID:31586465 PMID:31637888 PMID:31980526 PMID:32185686 PMID:32272826 PMID:32289882 PMID:32358738 PMID:32367404 PMID:32647925 PMID:32714392 PMID:32903448 PMID:33083013 PMID:33240318 PMID:33710594 PMID:33715135 PMID:34540367 More...
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Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: ADRENAL HYPERPLASIA V | ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5 |
OMIM ClinVar |
PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2786493 PMID:2843762 PMID:8245018 PMID:8287576 PMID:8550762 PMID:9326943 PMID:9601054 PMID:9892022 PMID:10720067 PMID:10877510 PMID:11243732 PMID:11549685 PMID:11549876 PMID:12466376 PMID:12706306 PMID:14671162 PMID:14715827 PMID:14747197 PMID:15844475 PMID:16121340 PMID:16199547 PMID:16477341 PMID:16569739 PMID:16772352 PMID:16849412 PMID:17192295 PMID:17379008 PMID:18422032 PMID:19470621 PMID:19636199 PMID:19728179 PMID:20170344 PMID:20197673 PMID:21340157 PMID:21340163 PMID:21846181 PMID:21966534 PMID:22087567 PMID:22309630 PMID:22954317 PMID:23291414 PMID:23466679 PMID:24033266 PMID:24140098 PMID:25741868 PMID:26467025 PMID:26543560 PMID:26770544 PMID:26845730 PMID:26980296 PMID:27426448 PMID:27959413 PMID:28008861 PMID:28492532 PMID:29278670 PMID:29595516 PMID:29858860 PMID:30229581 PMID:33753170 More...
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NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | ClinVar Annotator: match by term: Congenital Adrenal Insufficiency | ClinVar Annotator: match by term: P450scc DEFICIENCY |
OMIM ClinVar |
PMID:11502818 PMID:12161514 PMID:15507506 PMID:16705068 PMID:18182448 PMID:19116240 PMID:21159840 PMID:21880796 PMID:24033266 PMID:25741868 PMID:26300845 PMID:27008691 PMID:28492532 More...
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NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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Arx |
aristaless related homeobox |
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ISO |
ClinVar Annotator: match by term: Corpus callosum agenesis-abnormal genitalia syndrome | ClinVar Annotator: match by term: Proud syndrome |
OMIM ClinVar |
PMID:1605226 PMID:14722918 PMID:18414213 PMID:22252899 PMID:25741868 PMID:28492532 PMID:34298581 More...
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NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
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H6pd |
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) |
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ISO |
DNA:point mutation:CDS:p.R453Q (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12858176 |
RGD:1625067 |
NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
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G |
Hsd11b1 |
hydroxysteroid 11-beta dehydrogenase 1 |
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ISO |
DNA:insertion,transversion:intron:86557insA, 83597T>G (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:25526675 PMID:12858176 |
RGD:1625067 |
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
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G |
H6pd |
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) |
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ISO |
ClinVar Annotator: match by term: Cortisone reductase deficiency 1 |
OMIM ClinVar |
PMID:10522997 PMID:11150889 PMID:12858176 PMID:15827106 PMID:16091483 PMID:16817821 PMID:17062770 PMID:18628520 PMID:25741868 PMID:28492532 More...
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NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
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G |
Hsd11b1 |
hydroxysteroid 11-beta dehydrogenase 1 |
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ISO |
ClinVar Annotator: match by term: Cortisone reductase deficiency 2 |
OMIM ClinVar |
PMID:21325058 PMID:25741868 |
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NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
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G |
Adamts16 |
ADAM metallopeptidase with thrombospondin type 1 motif, 16 |
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IMP |
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RGD |
PMID:32037220 PMID:24983376 |
RGD:38548917, RGD:13434925 |
NCBI chr 1:32,430,436...32,562,481
Ensembl chr 1:32,430,436...32,560,494
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G |
Adamts16em1Bj |
ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj |
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IMP |
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RGD |
PMID:24983376 PMID:32037220 |
RGD:13434925, RGD:38548917 |
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G |
Anxa5 |
annexin A5 |
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IEP |
protein:increased expression: seminiferous tubulle |
RGD |
PMID:19376566 |
RGD:10053693 |
NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
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Ar |
androgen receptor |
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ISO |
DNA:repeats:exon |
RGD |
PMID:15472213 PMID:15757859 |
RGD:1578685, RGD:11576231 |
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Atrx |
ATRX, chromatin remodeler |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cryptorchidism |
CTD ClinVar |
PMID:7697714 PMID:19291773 PMID:24690944 PMID:25741868 PMID:28371217 PMID:28492532 More...
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NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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G |
Bcl2l1 |
Bcl2-like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26050606 |
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NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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Btd |
biotinidase |
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ISO |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
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NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
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G |
Casp3 |
caspase 3 |
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ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:26050606 PMID:29606031 |
RGD:13792609 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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G |
Cbl |
Cbl proto-oncogene |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20694012 |
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NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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G |
Cftr |
CF transmembrane conductance regulator |
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ISO |
mRNA, protein:decreased expression:testis |
RGD |
PMID:22777528 |
RGD:11567213 |
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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G |
Chrm3 |
cholinergic receptor, muscarinic 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22077972 |
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NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278
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G |
Esr1 |
estrogen receptor 1 |
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IEP |
mRNA:decreased expression:testis |
RGD |
PMID:20951417 |
RGD:8553220 |
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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G |
Fas |
Fas cell surface death receptor |
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IEP |
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RGD |
PMID:29606031 |
RGD:13792609 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Gfer |
growth factor, augmenter of liver regeneration |
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IEP |
protein:decreased expression:male germ cell: |
RGD |
PMID:17918708 |
RGD:9685739 |
NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
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G |
Gpx4 |
glutathione peroxidase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26050606 |
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NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
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G |
Hoxd13 |
homeo box D13 |
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ISO |
DNA:splice-site mutation:exon:180A>G (human) |
RGD |
PMID:17216618 |
RGD:12743597 |
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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G |
Hsd3b2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26050606 |
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NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
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G |
Hsf1 |
heat shock transcription factor 1 |
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IEP |
protein:increased expression:testis, spermatocyte, nucleus (rat) |
RGD |
PMID:21480429 |
RGD:10402945 |
NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
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G |
Htra2 |
HtrA serine peptidase 2 |
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IEP |
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RGD |
PMID:16563141 |
RGD:10402928 |
NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
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G |
Igf1r |
insulin-like growth factor 1 receptor |
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IEP |
protein:decreased expression:testis (rat) |
RGD |
PMID:7473418 |
RGD:12904727 |
NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
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G |
Insl3 |
insulin-like 3 |
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ISO |
idiopathic cryptorchidism, OMIM:219050 ClinVar Annotator: match by term: Cryptorchidism CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:11095425 PMID:11746019 PMID:12601553 PMID:12970298 PMID:14687758 PMID:16102138 PMID:25741868 PMID:12601553 More...
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RGD:1600162 |
NCBI chr16:18,398,682...18,400,566
Ensembl chr16:18,384,829...18,400,560
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G |
Kat6b |
lysine acetyltransferase 6B |
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ISO |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
PMID:25741868 |
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NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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G |
Kdm5a |
lysine demethylase 5A |
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IEP |
mRNA:increased expression:testes (rat) |
RGD |
PMID:24679876 |
RGD:9588526 |
NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422
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G |
Kiss1r |
KISS1 receptor |
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ISO |
ClinVar Annotator: match by term: Bilateral cryptorchidism |
ClinVar |
PMID:15598687 PMID:28492532 PMID:29452377 |
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NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
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G |
Lsm1 |
LSM1 homolog, mRNA degradation associated |
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ISO |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
PMID:25741868 PMID:31010896 |
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NCBI chr16:66,277,345...66,288,852
Ensembl chr16:66,277,345...66,288,852
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G |
Mefv |
MEFV innate immuity regulator, pyrin |
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ISO |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 PMID:11464248 PMID:14612366 PMID:15643295 PMID:15942916 PMID:16498449 PMID:16785446 PMID:16889173 PMID:18353061 PMID:19790133 PMID:20008920 PMID:20041150 PMID:20828792 PMID:21290976 PMID:22037353 PMID:22337722 PMID:22903357 PMID:23010357 PMID:23070486 PMID:23164758 PMID:23325590 PMID:23334425 PMID:23867542 PMID:23907647 PMID:24117178 PMID:24318677 PMID:24369413 PMID:25203624 PMID:25741868 PMID:26247045 PMID:26554556 PMID:26620106 PMID:27030597 PMID:27838405 PMID:28421071 PMID:28492532 PMID:29178647 PMID:29260407 PMID:29599418 PMID:29927949 PMID:30171907 PMID:31411330 PMID:33223529 More...
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NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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G |
Mfsd2a |
major facilitator superfamily domain containing 2A |
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ISO |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
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NCBI chr 5:135,225,801...135,240,744
Ensembl chr 5:135,225,816...135,240,690
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G |
Msx1 |
msh homeobox 1 |
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IEP |
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RGD |
PMID:18222913 |
RGD:5132606 |
NCBI chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966
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G |
Nfkbia |
NFKB inhibitor alpha |
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ISO |
protein:decreased expression:testis |
RGD |
PMID:22777528 |
RGD:11567213 |
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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G |
Nipbl |
NIPBL, cohesin loading factor |
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ISO |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
PMID:25741868 |
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NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899
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G |
Plod1 |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 |
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ISO |
ClinVar Annotator: match by term: Bilateral cryptorchidism |
ClinVar |
PMID:25741868 |
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NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
mRNA, protein:increased expression:testis |
RGD |
PMID:22777528 |
RGD:11567213 |
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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G |
Rab3gap1 |
RAB3 GTPase activating protein catalytic subunit 1 |
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ISO |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
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NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
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Rela |
RELA proto-oncogene, NF-kB subunit |
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ISO |
protein:increased expression:testis |
RGD |
PMID:22777528 |
RGD:11567213 |
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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G |
Rxfp2 |
relaxin family peptide receptor 2 |
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ISO ISS |
bilateral cryptorchidism, OMIM:219050 ClinVar Annotator: match by term: Cryptorchidism |
MouseDO ClinVar RGD |
PMID:12217959 PMID:12970298 PMID:20636340 PMID:12217959 |
RGD:1600187 |
NCBI chr12:4,925,722...4,986,596
Ensembl chr12:4,925,722...4,986,596
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G |
Smchd1 |
structural maintenance of chromosomes flexible hinge domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
PMID:28067909 |
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NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665
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G |
Sts |
steroid sulfatase |
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IEP |
protein:increased expression:scrotum, testis |
RGD |
PMID:2576297 |
RGD:1601402 |
NCBI chr X:42,225,131...42,233,403
Ensembl chr X:42,225,372...42,233,402
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G |
Syne2 |
spectrin repeat containing nuclear envelope protein 2 |
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IAGP |
DNA:deletion:exon: |
RGD |
PMID:26502805 |
RGD:12911229 |
NCBI chr 6:94,537,088...94,848,085
Ensembl chr 6:94,537,088...94,848,064
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G |
Szt2 |
SZT2 subunit of KICSTOR complex |
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ISO |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30564332 |
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NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904
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G |
Tuba1a |
tubulin, alpha 1A |
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ISO |
ClinVar Annotator: match by term: Cryptorchidism |
ClinVar |
PMID:18954413 PMID:25741868 PMID:28492532 PMID:30744660 PMID:32581362 |
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NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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G |
Brat1 |
BRCA1-associated ATM activator 1 |
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ISO |
ClinVar Annotator: match by term: DBP deficiency |
ClinVar |
PMID:16385454 PMID:22279524 PMID:23035047 PMID:28492532 |
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NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
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G |
Hsd17b4 |
hydroxysteroid (17-beta) dehydrogenase 4 |
severity |
ISO |
ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: DBP deficiency DNA:mutations:multiple (human) |
ClinVar OMIM RGD |
PMID:2868085 PMID:2882519 PMID:2921319 PMID:8279468 PMID:9345094 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10400999 PMID:10419023 PMID:10497229 PMID:10671535 PMID:10748062 PMID:11330053 PMID:11743515 PMID:11810648 PMID:11992265 PMID:12562856 PMID:16199547 PMID:16385454 PMID:17576681 PMID:20673864 PMID:22507161 PMID:22864515 PMID:23100014 PMID:23181892 PMID:23308274 PMID:23332201 PMID:24033266 PMID:24108619 PMID:24553428 PMID:24602372 PMID:25741868 PMID:25882080 PMID:25967389 PMID:26243799 PMID:26467025 PMID:26970254 PMID:27243974 PMID:27290639 PMID:27528516 PMID:27650058 PMID:27790638 PMID:28017249 PMID:28492532 PMID:28649525 PMID:28830375 PMID:28973083 PMID:30396834 PMID:31455392 PMID:9345094 PMID:16385454 More...
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RGD:1599968, RGD:10411884 |
NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
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G |
Ar |
androgen receptor |
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ISO |
protein:decreased expression:sertoli cell |
RGD |
PMID:16245160 |
RGD:1643343 |
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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G |
Dcdc1-ps1 |
doublecortin domain containing 1, pseudogene 1 |
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ISO |
ClinVar Annotator: match by term: Drash syndrome |
ClinVar |
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
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NCBI chr 3:92,718,047...92,896,696
Ensembl chr 3:92,718,047...92,896,542
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Dnajc24 |
DnaJ heat shock protein family (Hsp40) member C24 |
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ISO |
ClinVar Annotator: match by term: Drash syndrome |
ClinVar |
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
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NCBI chr 3:92,450,631...92,486,004
Ensembl chr 3:92,450,639...92,485,901
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Elp4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Drash syndrome |
ClinVar |
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
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NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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Immp1l |
inner mitochondrial membrane peptidase subunit 1 |
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ISO |
ClinVar Annotator: match by term: Drash syndrome |
ClinVar |
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
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NCBI chr 3:92,385,329...92,450,557
Ensembl chr 3:92,385,379...92,452,313
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Pax6 |
paired box 6 |
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ISO |
ClinVar Annotator: match by term: Drash syndrome |
ClinVar |
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
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NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Rcn1 |
reticulocalbin 1 |
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ISO |
ClinVar Annotator: match by term: Drash syndrome |
ClinVar |
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
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NCBI chr 3:91,841,052...91,855,295
Ensembl chr 3:91,841,052...91,855,295
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Wt1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Drash syndrome |
ClinVar OMIM RGD |
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1350671 PMID:1655284 PMID:1658787 PMID:1671709 PMID:5665984 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8388765 PMID:8621495 PMID:8810912 PMID:8956030 PMID:8975729 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9531607 PMID:9536098 PMID:9607189 PMID:9817285 PMID:10094551 PMID:10470095 PMID:10505700 PMID:10571943 PMID:10603123 PMID:10762296 PMID:11182928 PMID:11241055 PMID:11278460 PMID:11322369 PMID:11738793 PMID:12024052 PMID:12050205 PMID:12471221 PMID:12640141 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:15957141 PMID:16199547 PMID:16717397 PMID:16932893 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17630404 PMID:17694336 PMID:17853480 PMID:18203154 PMID:18385267 PMID:18559874 PMID:18591546 PMID:18618575 PMID:19171881 PMID:19205749 PMID:19221039 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:20595692 PMID:21125408 PMID:21384108 PMID:21499692 PMID:21504297 PMID:21508141 PMID:21851196 PMID:22099579 PMID:22465478 PMID:22703879 PMID:22876585 PMID:23117548 PMID:23295293 PMID:23349334 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24138039 PMID:24161391 PMID:24379226 PMID:24402088 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25145932 PMID:25349199 PMID:25383892 PMID:25451826 PMID:25501161 PMID:25720465 PMID:25741868 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26358501 PMID:26467025 PMID:26661695 PMID:26725263 PMID:27013732 PMID:27124303 PMID:27241786 PMID:27300205 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28334862 PMID:28492532 PMID:28780565 PMID:28811308 PMID:29668062 PMID:30406062 PMID:30655312 PMID:30963316 PMID:31937884 PMID:32352694 PMID:32581362 PMID:12161615 More...
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RGD:1580624 |
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Lmna |
lamin A/C |
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ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome |
OMIM ClinVar |
PMID:2007407 PMID:10587585 PMID:10612827 PMID:10655060 PMID:10739751 PMID:10810087 PMID:10868844 PMID:10999791 PMID:10999845 PMID:11015599 PMID:11078466 PMID:11136544 PMID:11792809 PMID:12524233 PMID:12647844 PMID:12927424 PMID:12927431 PMID:16181372 PMID:16364671 PMID:16415042 PMID:17150192 PMID:17893350 PMID:18414213 PMID:18728124 PMID:19011997 PMID:19201734 PMID:19283854 PMID:19418082 PMID:19427440 PMID:19859838 PMID:20130076 PMID:20625965 PMID:20709679 PMID:22224630 PMID:22266370 PMID:22464770 PMID:22700598 PMID:23183350 PMID:23313286 PMID:23427149 PMID:23853504 PMID:23977161 PMID:24033266 PMID:24375749 PMID:24503780 PMID:24623722 PMID:24846508 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26662654 PMID:27532257 PMID:27585670 PMID:27723096 PMID:28492532 PMID:28641778 PMID:28663758 PMID:28679633 PMID:29149195 PMID:29237675 PMID:30165862 PMID:30402260 PMID:30528549 PMID:30847666 PMID:30871747 PMID:31194872 PMID:31303467 PMID:31383942 PMID:31447099 PMID:31829210 PMID:31836692 PMID:32041611 More...
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NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Akr1c1 |
aldo-keto reductase family 1, member C1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25304492 |
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NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326
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Akr1c2 |
aldo-keto reductase family 1, member C2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25304492 |
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NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764
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Akr1c3 |
aldo-keto reductase family 1, member C3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25304492 |
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NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
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Amh |
anti-Mullerian hormone |
susceptibility |
ISO |
Persistent Mullerian Duct Syndrome type I, OMIM:261550;DNA:deletion, nonsense mutation:exon |
RGD |
PMID:1483695 |
RGD:1601180 |
NCBI chr 7:8,906,776...8,909,184
Ensembl chr 7:8,906,836...8,909,282
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
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NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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Cbx2 |
chromobox 2 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar RGD |
PMID:9641679 |
RGD:9586734 |
NCBI chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383
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Ccdc141 |
coiled-coil domain containing 141 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
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NCBI chr 3:61,948,614...62,109,968
Ensembl chr 3:61,948,646...62,110,079
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Dhh |
desert hedgehog signaling molecule |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
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NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
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NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Flrt3 |
fibronectin leucine rich transmembrane protein 3 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
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NCBI chr 3:127,994,491...128,008,137
Ensembl chr 3:127,994,226...128,007,841
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Foxp1 |
forkhead box P1 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
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NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
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G |
Frem2 |
FRAS1 related extracellular matrix 2 |
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ISO |
ClinVar Annotator: match by term: Ambiguous genitalia |
ClinVar |
PMID:25741868 |
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NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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Ghrhr |
growth hormone releasing hormone receptor |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
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NCBI chr 4:84,498,159...84,532,847
Ensembl chr 4:84,500,212...84,532,776
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Gli2 |
GLI family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
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NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
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Gli3 |
GLI family zinc finger 3 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
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NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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Gprc6a |
G protein-coupled receptor, class C, group 6, member A |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
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NCBI chr20:30,922,106...30,943,412
Ensembl chr20:30,922,106...30,943,412
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G |
Hsd17b3 |
hydroxysteroid (17-beta) dehydrogenase 3 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:17071532 PMID:8075637 |
RGD:1599964 |
NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554
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G |
Lhcgr |
luteinizing hormone/choriogonadotropin receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22615892 |
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NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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G |
Macrod2 |
mono-ADP ribosylhydrolase 2 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
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NCBI chr 3:127,720,066...129,737,511
Ensembl chr 3:127,720,181...129,734,492
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Magel2 |
MAGE family member L2 |
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ISO |
ClinVar Annotator: match by term: Ambiguous genitalia |
ClinVar |
PMID:24076603 PMID:25741868 PMID:26365340 PMID:27195816 PMID:28492532 PMID:30302899 PMID:31152388 PMID:31680349 More...
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NCBI chr 1:115,880,137...115,884,680
Ensembl chr 1:115,880,474...115,884,250
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G |
Map3k1 |
mitogen-activated protein kinase kinase kinase 1 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
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NCBI chr 2:43,348,572...43,414,706
Ensembl chr 2:43,350,098...43,414,463
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Myrf |
myelin regulatory factor |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
PMID:25741868 |
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NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
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G |
Nr5a1 |
nuclear receptor subfamily 5, group A, member 1 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
PMID:28492532 |
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NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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G |
Plxna3 |
plexin A3 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
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NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
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Por |
cytochrome p450 oxidoreductase |
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ISO |
ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
PMID:25741868 |
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NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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G |
Prok2 |
prokineticin 2 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
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NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385
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G |
Prop1 |
PROP paired-like homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
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NCBI chr10:35,271,959...35,274,434
Ensembl chr10:35,271,973...35,274,434
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G |
Rxfp2 |
relaxin family peptide receptor 2 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
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NCBI chr12:4,925,722...4,986,596
Ensembl chr12:4,925,722...4,986,596
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G |
Sox4 |
SRY-box transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
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NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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G |
Spry4 |
sprouty RTK signaling antagonist 4 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
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NCBI chr18:30,436,513...30,451,426
Ensembl chr18:30,436,443...30,453,004
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G |
Tbce |
tubulin folding cofactor E |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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G |
Tgif1 |
TGFB-induced factor homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
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NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802
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G |
Wt1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Disorder of sex development |
ClinVar |
PMID:23349334 PMID:25741868 PMID:28492532 |
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NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cryptophthalmos with other malformations |
CTD ClinVar |
PMID:17163535 PMID:18671281 PMID:25741868 |
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NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
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G |
Frem1 |
Fras1 related extracellular matrix 1 |
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ISS |
OMIM:219000 |
MouseDO |
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NCBI chr 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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G |
Frem2 |
FRAS1 related extracellular matrix 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17163535 |
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NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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G |
Grip1 |
glutamate receptor interacting protein 1 |
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ISS |
OMIM:219000 |
MouseDO |
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NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
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G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
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ISO |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Fraser syndrome 1 |
ClinVar OMIM RGD |
PMID:12766769 PMID:16894541 PMID:17163535 PMID:18671281 PMID:21900877 PMID:22029163 PMID:23532946 PMID:24476948 PMID:24551978 PMID:24583203 PMID:24700879 PMID:25353622 PMID:25741868 PMID:26893459 PMID:27280866 PMID:27859469 PMID:28492532 PMID:29261186 PMID:30639323 PMID:31319225 PMID:31738409 PMID:31999076 PMID:33726816 PMID:35005812 PMID:12766769 More...
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RGD:1598960 |
NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
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G |
Frem2 |
FRAS1 related extracellular matrix 2 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 1 |
ClinVar |
PMID:25741868 PMID:26275891 PMID:28492532 |
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NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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G |
Grip1 |
glutamate receptor interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
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G |
Frem2 |
FRAS1 related extracellular matrix 2 |
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IAGP ISO |
ClinVar Annotator: match by term: Fraser syndrome 2 |
ClinVar OMIM RGD |
PMID:15838507 PMID:18203166 PMID:18671281 PMID:24115501 PMID:25741868 PMID:26275891 PMID:28492532 PMID:29688405 PMID:30143558 PMID:30773290 PMID:30802441 PMID:21756877 More...
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RGD:13464328 |
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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G |
Frem2fpl |
Fras1 related extracellular matrix protein 2;fpl mutant |
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IAGP |
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RGD |
PMID:21756877 |
RGD:13464328 |
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G |
Adamts14 |
ADAM metallopeptidase with thrombospondin type 1 motif, 14 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr20:29,143,029...29,219,846
Ensembl chr20:29,144,354...29,219,866
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G |
Aipl1 |
aryl hydrocarbon receptor-interacting protein-like 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922
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G |
Aspa |
aspartoacylase |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272
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G |
Borcs6 |
BLOC-1 related complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632
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G |
Gnb5 |
G protein subunit beta 5 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr 8:76,076,227...76,104,151
Ensembl chr 8:76,073,306...76,105,069
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G |
Grip1 |
glutamate receptor interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
OMIM ClinVar |
PMID:21383172 PMID:22510445 PMID:24033266 PMID:25741868 PMID:26539891 PMID:28492532 More...
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NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
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G |
Lsm10 |
LSM10, U7 small nuclear RNA associated |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr 5:138,365,983...138,375,856
Ensembl chr 5:138,373,119...138,377,505
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G |
Med23 |
mediator complex subunit 23 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr 1:20,490,315...20,558,461
Ensembl chr 1:20,490,315...20,537,463
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G |
Mpc1 |
mitochondrial pyruvate carrier 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr 1:52,437,745...52,449,369
Ensembl chr 1:52,437,741...52,449,400
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G |
Myo18b |
myosin XVIIIb |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr12:43,747,003...43,953,694
Ensembl chr12:43,747,010...43,953,695
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Odad1 |
outer dynein arm docking complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
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G |
Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Spata22 |
spermatogenesis associated 22 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr10:57,945,272...57,963,081
Ensembl chr10:57,932,187...57,963,081
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G |
Tlcd3a |
TLC domain containing 3A |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr10:61,057,470...61,065,293
Ensembl chr10:61,058,042...61,065,283
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G |
Wdr81 |
WD repeat domain 81 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296
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G |
Wt1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Frasier syndrome |
OMIM ClinVar |
PMID:1302008 PMID:1658787 PMID:7795587 PMID:8388765 PMID:9108089 PMID:9398852 PMID:9499425 PMID:9529364 PMID:9531607 PMID:9536098 PMID:10094551 PMID:10571943 PMID:10762296 PMID:11241055 PMID:11738793 PMID:12050205 PMID:12471221 PMID:15150775 PMID:15483024 PMID:17576681 PMID:17694336 PMID:18618575 PMID:19205749 PMID:19221039 PMID:19484379 PMID:20442690 PMID:20595692 PMID:21499692 PMID:21504297 PMID:21508141 PMID:21851196 PMID:22099579 PMID:23117548 PMID:23295293 PMID:23349334 PMID:23515051 PMID:24033266 PMID:24161391 PMID:24856380 PMID:25741868 PMID:25818337 PMID:26467025 PMID:27719739 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29668062 PMID:30406062 PMID:30655312 PMID:32352694 PMID:32581362 More...
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NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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G |
Alx4 |
ALX homeobox 4 |
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ISO |
ClinVar Annotator: match by term: Frontonasal dysplasia 2 |
OMIM ClinVar |
PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 PMID:28492532 |
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NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
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G |
Pacs1 |
phosphofurin acidic cluster sorting protein 1 |
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ISO |
ClinVar Annotator: match by term: Horseshoe kidney |
ClinVar |
PMID:23159249 PMID:25326635 PMID:25356970 PMID:25522177 PMID:25533962 PMID:25741868 PMID:25741881 PMID:26795593 PMID:26842493 PMID:26944241 PMID:27681385 PMID:28111752 PMID:28135719 PMID:28471432 PMID:28492532 PMID:28554332 PMID:28628100 PMID:29550517 PMID:30113927 PMID:30588754 PMID:30690871 PMID:32963807 More...
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NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473
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G |
Kat6b |
lysine acetyltransferase 6B |
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ISO |
ClinVar Annotator: match by term: Genitopatellar syndrome | ClinVar Annotator: match by term: KAT6B-Related Spectrum Disorders DNA:mutations:cds:multiple (human) |
OMIM ClinVar RGD |
PMID:9536098 PMID:12210329 PMID:12210330 PMID:16761293 PMID:17576681 PMID:21344633 PMID:22077973 PMID:22265014 PMID:22265017 PMID:23236640 PMID:23436491 PMID:24033266 PMID:25326635 PMID:25424711 PMID:25473036 PMID:25741868 PMID:25937001 PMID:28166811 PMID:28492532 PMID:28696035 PMID:29226580 PMID:32424177 PMID:22265017 More...
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RGD:9588485 |
NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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Lgi1 |
leucine-rich, glioma inactivated 1 |
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ISO |
ClinVar Annotator: match by term: Genitopatellar syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 1:236,043,376...236,084,270
Ensembl chr 1:236,042,954...236,084,616
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G |
Ppp1r12a |
protein phosphatase 1, regulatory subunit 12A |
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ISO |
ClinVar Annotator: match by term: Genitourinary and/or brain malformation syndrome |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31349857 PMID:31883643 |
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NCBI chr 7:43,482,808...43,593,689
Ensembl chr 7:43,482,803...43,593,425
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G |
Cbx2 |
chromobox 2 |
no_association |
ISO |
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RGD |
PMID:23219007 |
RGD:9586730 |
NCBI chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383
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G |
Dmrt2 |
doublesex and mab-3 related transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Gonadal agenesis |
ClinVar |
PMID:25741868 |
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NCBI chr 1:223,317,543...223,324,131
Ensembl chr 1:223,317,642...223,324,131
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G |
Fmr1 |
fragile X messenger ribonucleoprotein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22043169 |
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NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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G |
Nr5a1 |
nuclear receptor subfamily 5, group A, member 1 |
treatment |
IMP |
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RGD |
PMID:16467257 |
RGD:12904919 |
NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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G |
Tspyl1 |
TSPY-like 1 |
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ISO |
sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800 |
RGD |
PMID:15273283 |
RGD:1599672 |
NCBI chr20:38,082,003...38,084,562
Ensembl chr20:38,081,951...38,084,554 Ensembl chr20:38,081,951...38,084,554
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G |
Ppp2r3c |
protein phosphatase 2, regulatory subunit B'', gamma |
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ISO |
ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy |
OMIM ClinVar |
PMID:25741868 PMID:30893644 |
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NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491
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G |
Prorp |
protein only RNase P catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy |
ClinVar |
PMID:25741868 |
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NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
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G |
Ltbp3 |
latent transforming growth factor beta binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease |
ClinVar |
PMID:25741868 PMID:29625025 |
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NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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G |
Smad4 |
SMAD family member 4 |
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ISO |
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Myhre syndrome DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M (human) CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:8898652 PMID:9536098 PMID:9582123 PMID:9679244 PMID:9811934 PMID:10398437 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10790223 PMID:10797267 PMID:11274206 PMID:11782434 PMID:11920286 PMID:11977156 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:15288293 PMID:16152648 PMID:16436638 PMID:16613914 PMID:17576681 PMID:17873119 PMID:17994767 PMID:18355998 PMID:18823382 PMID:20101697 PMID:21153778 PMID:21515830 PMID:21835029 PMID:22158539 PMID:22243968 PMID:22316667 PMID:22331366 PMID:22585601 PMID:22683461 PMID:22703879 PMID:22748914 PMID:22810475 PMID:22843233 PMID:22875147 PMID:23239472 PMID:23399955 PMID:24033266 PMID:24398790 PMID:24424121 PMID:24465802 PMID:24465805 PMID:24580733 PMID:24715504 PMID:24728327 PMID:24841914 PMID:25148578 PMID:25186627 PMID:25318351 PMID:25559809 PMID:25589618 PMID:25637381 PMID:25695693 PMID:25741868 PMID:25980754 PMID:26253951 PMID:26467025 PMID:26619011 PMID:26633542 PMID:26636501 PMID:26681312 PMID:26976419 PMID:27146957 PMID:27153395 PMID:27302097 PMID:27375208 PMID:27443514 PMID:27562837 PMID:27595937 PMID:27613157 PMID:27978560 PMID:28135145 PMID:28196074 PMID:28406602 PMID:28492532 PMID:28528518 PMID:28628100 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29684080 PMID:30426508 PMID:30719162 PMID:30809044 PMID:30842500 PMID:30968316 PMID:31159747 PMID:31474762 PMID:31595668 PMID:31654632 PMID:31758407 PMID:31837202 PMID:32066632 PMID:32300199 PMID:32573726 PMID:22158539 More...
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RGD:12880042 |
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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G |
Hoxa13 |
homeo box A13 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Guttmacher syndrome |
OMIM CTD ClinVar |
PMID:8484413 PMID:11968094 PMID:24239177 |
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NCBI chr 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091
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G |
Prl |
prolactin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7878608 PMID:9334596 |
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NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
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G |
Hoxa13 |
homeo box A13 |
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ISO |
hand-foot-genital syndrome, OMIM:140000 ClinVar Annotator: match by term: Hand-foot-genital syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:1442892 PMID:2774004 PMID:5450271 PMID:8673126 PMID:9020844 PMID:10839976 PMID:12073020 PMID:12414828 PMID:17935235 PMID:24239177 PMID:9020844 More...
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RGD:1599526 |
NCBI chr 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091
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G |
Bmpr2 |
bone morphogenetic protein receptor type 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22825968 |
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NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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G |
Il6st |
interleukin 6 cytokine family signal transducer |
resistance |
ISO |
DNA:polymorphism:cds:p148G>R |
RGD |
PMID:12917504 |
RGD:1625428 |
NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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G |
Pparg |
peroxisome proliferator-activated receptor gamma |
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IEP |
mRNA, protein:increased expression:ovary follicle (rat) |
RGD |
PMID:20813360 |
RGD:8553031 |
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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G |
Anos1 |
anosmin 1 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 1 with or without anosmia |
OMIM ClinVar |
PMID:1518845 PMID:1594017 PMID:1639422 PMID:1904396 PMID:8504298 PMID:9536098 PMID:9589672 PMID:9713559 PMID:11044805 PMID:11297579 PMID:12050219 PMID:12727945 PMID:15001591 PMID:15605412 PMID:16199547 PMID:16882753 PMID:17054399 PMID:17576681 PMID:21681106 PMID:21717404 PMID:22035731 PMID:23100014 PMID:23410897 PMID:23533228 PMID:23643382 PMID:23849776 PMID:25064402 PMID:25077900 PMID:25339597 PMID:25636053 PMID:25741868 PMID:26467025 PMID:26708526 PMID:26862482 PMID:27657687 PMID:28295047 PMID:28492532 PMID:28566479 PMID:28708303 PMID:32870266 More...
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NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
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G |
Adam9 |
ADAM metallopeptidase domain 9 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:28492532 |
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NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
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G |
Adgra2 |
adhesion G protein-coupled receptor A2 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:28492532 |
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NCBI chr16:64,932,964...64,971,433
Ensembl chr16:64,933,315...64,971,483
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G |
Adrb3 |
adrenoceptor beta 3 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:28492532 |
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NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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G |
Ash2l |
ASH2 like histone lysine methyltransferase complex subunit |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,242,205...66,264,064
Ensembl chr16:66,242,212...66,264,061
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G |
Bag4 |
BAG cochaperone 4 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,288,678...66,305,893
Ensembl chr16:66,288,678...66,308,663
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G |
Brf2 |
BRF2, RNA polymerase III transcription initiation factor subunit |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:28492532 |
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NCBI chr16:64,928,334...64,933,057
Ensembl chr16:64,928,300...64,933,059
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G |
Ddhd2 |
DDHD domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,319,469...66,349,025
Ensembl chr16:66,319,466...66,349,023
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G |
Eif4ebp1 |
eukaryotic translation initiation factor 4E binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:28492532 |
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NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984
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G |
Erlin2 |
ER lipid raft associated 2 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:28492532 |
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NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
OMIM ClinVar |
PMID:6881209 PMID:7795583 PMID:7874169 PMID:9536098 PMID:10629055 PMID:10690855 PMID:10861678 PMID:10942429 PMID:11173846 PMID:12627230 PMID:14513299 PMID:14564217 PMID:14613973 PMID:15365636 PMID:15605412 PMID:15793702 PMID:16199547 PMID:16418210 PMID:16606836 PMID:16757108 PMID:16764984 PMID:16882753 PMID:16957473 PMID:17154279 PMID:17200176 PMID:17235395 PMID:17360555 PMID:17576681 PMID:17963255 PMID:18160472 PMID:18596921 PMID:18985070 PMID:19707180 PMID:19820032 PMID:20696889 PMID:21247312 PMID:21700882 PMID:22319038 PMID:22378383 PMID:23329143 PMID:23348397 PMID:23533228 PMID:23643382 PMID:23657145 PMID:24031091 PMID:24127277 PMID:24204987 PMID:24497711 PMID:24759409 PMID:25064402 PMID:25251565 PMID:25383892 PMID:25394172 PMID:25425165 PMID:25636053 PMID:25741868 PMID:25759380 PMID:26467025 PMID:26708526 PMID:26931467 PMID:27502037 PMID:27596331 PMID:27884173 PMID:28008864 PMID:28166811 PMID:28492532 PMID:28754744 PMID:29168297 PMID:33337535 PMID:33532864 More...
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NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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G |
Got1l1 |
glutamic-oxaloacetic transaminase 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:28492532 |
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NCBI chr16:64,860,308...64,873,656
Ensembl chr16:64,860,704...64,866,162
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G |
Htra4 |
HtrA serine peptidase 4 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:28492532 |
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NCBI chr16:67,001,605...67,015,074
Ensembl chr16:67,001,605...67,015,074
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G |
Letm2 |
leucine zipper and EF-hand containing transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,464,958...66,489,640
Ensembl chr16:66,469,111...66,489,704
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G |
Lsm1 |
LSM1 homolog, mRNA degradation associated |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,277,345...66,288,852
Ensembl chr16:66,277,345...66,288,852
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G |
Nsd3 |
nuclear receptor binding SET domain protein 3 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,354,030...66,466,202
Ensembl chr16:66,358,973...66,465,423
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G |
Plekha2 |
pleckstrin homology domain containing A2 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,938,684...67,000,661
Ensembl chr16:66,939,109...66,999,395
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G |
Plpbp |
pyridoxal phosphate binding protein |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:28492532 |
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NCBI chr16:65,003,292...65,014,886
Ensembl chr16:65,002,223...65,014,886
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G |
Plpp5 |
phospholipid phosphatase 5 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,349,483...66,353,887
Ensembl chr16:66,349,502...66,464,797
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G |
Rab11fip1 |
RAB11 family interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:28492532 |
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NCBI chr16:64,886,902...64,917,491
Ensembl chr16:64,884,676...64,917,491
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G |
Star |
steroidogenic acute regulatory protein |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
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G |
Tacc1 |
transforming, acidic coiled-coil containing protein 1 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,812,232...66,895,736
Ensembl chr16:66,812,295...66,895,733
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G |
Tm2d2 |
TM2 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:28492532 |
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NCBI chr16:67,016,683...67,022,206
Ensembl chr16:67,012,675...67,022,226
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G |
Prokr2 |
prokineticin receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 without anosmia |
OMIM ClinVar |
PMID:1855992 PMID:4276467 PMID:8954047 PMID:11259612 PMID:16537498 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18723471 PMID:18826963 PMID:18985070 PMID:20022991 PMID:20696889 PMID:20981092 PMID:21209029 PMID:21247312 PMID:21858136 PMID:22035731 PMID:22319038 PMID:22399515 PMID:22466334 PMID:22745195 PMID:22773735 PMID:22927827 PMID:22995991 PMID:23082007 PMID:23200691 PMID:23386640 PMID:23533228 PMID:23596439 PMID:23643382 PMID:24031091 PMID:24276467 PMID:24753254 PMID:24830383 PMID:25678757 PMID:25741868 PMID:25759380 PMID:26031747 PMID:26467025 PMID:28492532 PMID:29161432 PMID:30311386 PMID:30773290 PMID:32870266 More...
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NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
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Prok2 |
prokineticin 2 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 4 with or without anosmia |
OMIM ClinVar |
PMID:17054399 PMID:17959774 PMID:18285834 PMID:18559922 PMID:18682503 PMID:23643382 PMID:24423319 PMID:25741868 PMID:26141714 PMID:26467025 PMID:28492532 More...
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NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385
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Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
DNA:frameshift mutation, missense mutations: :multiple DNA:missense mutations, nonsense mutations:exon:multiple DNA:missense mutation, nonsense mutation:exon:p.S107X (320C>A), p.G687R (2059G>A) (human) |
RGD |
PMID:16882753 PMID:16764984 PMID:15845591 |
RGD:11567239, RGD:11567241, RGD:11567240 |
NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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Ar |
androgen receptor |
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ISO ISS |
OMIM:146450 | OMIM:300633 | OMIM:300758 | OMIM:300856 mRNA:decreased expression:mucosa of urethra |
MouseDO RGD |
PMID:15472213 PMID:23386417 |
RGD:1578685, RGD:11576230 |
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Atf3 |
activating transcription factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18001166 |
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NCBI chr13:102,751,278...102,800,520
Ensembl chr13:102,751,321...102,764,631
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Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
no_association |
ISO |
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RGD |
PMID:15579657 PMID:21300689 |
RGD:11576312, RGD:11576313 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Dgkk |
diacylglycerol kinase kappa |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21113153 PMID:27098078 |
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NCBI chr X:15,581,991...15,713,814
Ensembl chr X:15,583,572...15,712,987
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Esr2 |
estrogen receptor 2 |
susceptibility |
ISO |
DNA:snps, repeat:promoter, 3' utr:rs2987983, rs10483774, g.dupCA (rs1256062) (human) |
RGD |
PMID:17579196 PMID:17579196 |
RGD:1626506, RGD:1626506 |
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Fgf10 |
fibroblast growth factor 10 |
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IEP |
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RGD |
PMID:19464577 |
RGD:2314151 |
NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
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Fgf8 |
fibroblast growth factor 8 |
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IEP |
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RGD |
PMID:19464577 |
RGD:2314151 |
NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
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Fgfr2 |
fibroblast growth factor receptor 2 |
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IEP |
mRNA:decreased expression:male genital tubercle (rat) |
RGD |
PMID:19464577 |
RGD:2314151 |
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Fscn3 |
fascin actin-bundling protein 3 |
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ISO |
ClinVar Annotator: match by term: Hypospadias |
ClinVar |
PMID:25741868 |
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NCBI chr 4:57,042,797...57,052,224
Ensembl chr 4:57,042,797...57,052,404
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Gli3 |
GLI family zinc finger 3 |
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IEP |
mRNA:decreased expression:male genital tubercle |
RGD |
PMID:27079746 |
RGD:12743602 |
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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Gstm1 |
glutathione S-transferase mu 1 |
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ISO |
DNA:deletion, haplotype: : (human) |
RGD |
PMID:21300689 |
RGD:11576313 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstt1 |
glutathione S-transferase theta 1 |
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ISO |
DNA:deletion, haplotype: : (human) |
RGD |
PMID:21300689 |
RGD:11576313 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Hhip |
Hedgehog-interacting protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31568847 |
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NCBI chr19:27,863,684...27,952,528
Ensembl chr19:27,863,213...27,952,528
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Hoxa13 |
homeo box A13 |
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IEP |
mRNA:decreased expression:male genital tubercle |
RGD |
PMID:27079746 |
RGD:12743602 |
NCBI chr 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091
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Hoxd13 |
homeo box D13 |
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IEP |
mRNA:decreased expression:male genital tubercle |
RGD |
PMID:27079746 |
RGD:12743602 |
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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Hsd3b1 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 |
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ISO |
DNA:point mutation:CDS:heterozygous S213T or S284R, result in decreased enzyme activity |
RGD |
PMID:14764821 |
RGD:1625114 |
NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999
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Hsd3b2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14764821 |
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NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
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Kat6b |
lysine acetyltransferase 6B |
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ISO |
ClinVar Annotator: match by term: Hypospadias |
ClinVar |
PMID:25741868 |
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NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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Pacs1 |
phosphofurin acidic cluster sorting protein 1 |
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ISO |
ClinVar Annotator: match by term: Hypospadias |
ClinVar |
PMID:25741868 |
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NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473
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Snd1 |
staphylococcal nuclease and tudor domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Hypospadias |
ClinVar |
PMID:25741868 |
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NCBI chr 4:57,095,205...57,494,501
Ensembl chr 4:57,095,208...57,530,843
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Srd5a2 |
steroid 5 alpha-reductase 2 |
susceptibility |
ISO |
protein:missense mutations:cds:p.R227Q, p.F186L (human) |
RGD |
PMID:10514539 |
RGD:1600059 |
NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112
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Wnt11 |
Wnt family member 11 |
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ISO |
ClinVar Annotator: match by term: Hypospadias |
ClinVar |
PMID:25741868 |
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NCBI chr 1:153,134,503...153,154,294
Ensembl chr 1:153,138,197...153,154,294
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Wnt8a |
Wnt family member 8A |
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ISO |
ClinVar Annotator: match by term: Hypospadias |
ClinVar |
PMID:25741868 |
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NCBI chr18:26,137,690...26,143,283
Ensembl chr18:26,137,690...26,143,283
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Ar |
androgen receptor |
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ISO |
ClinVar Annotator: match by term: Hypospadias 1, X-linked |
OMIM ClinVar |
PMID:8097257 PMID:8683794 PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Cdkn1c |
cyclin-dependent kinase inhibitor 1C |
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ISO |
ClinVar Annotator: match by term: IMAGe syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24098681 PMID:24313804 PMID:24624461 PMID:25057881 PMID:25262539 PMID:25614875 PMID:25741868 PMID:28492532 PMID:30374176 PMID:33076988 More...
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NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048
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Pole |
DNA polymerase epsilon, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency |
OMIM ClinVar |
PMID:14760276 PMID:16835919 PMID:20091185 PMID:21129811 PMID:23263490 PMID:23447401 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 PMID:30503519 More...
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NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939
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Nr0b1 |
nuclear receptor subfamily 0, group B, member 1 |
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ISO |
ClinVar Annotator: match by term: Mineralocorticoid deficiency, isolated |
ClinVar |
PMID:17164309 |
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NCBI chr X:50,756,886...50,761,014
Ensembl chr X:50,756,886...50,761,011
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Anos1 |
anosmin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
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Chd7 |
chromodomain helicase DNA binding protein 7 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypogonadism with anosmia |
CTD ClinVar |
PMID:18414213 PMID:18445044 PMID:21158681 PMID:22461308 PMID:24033266 PMID:25077900 PMID:25741868 PMID:26467025 PMID:28475860 PMID:28492532 PMID:29304373 More...
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NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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Fgf8 |
fibroblast growth factor 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
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Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypogonadism with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism and anosmia |
CTD ClinVar |
PMID:25741868 |
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NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Hypogonadism with anosmia |
ClinVar |
PMID:25741868 |
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NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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Polr2f |
RNA polymerase II, I and III subunit F |
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ISO |
ClinVar Annotator: match by term: Hypogonadism with anosmia |
ClinVar |
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NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
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Prok2 |
prokineticin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385
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Prokr2 |
prokineticin receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
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Sox10 |
SRY-box transcription factor 10 |
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ISO ISS |
DNA:mutations:cds: ClinVar Annotator: match by term: Hypogonadism with anosmia |
ClinVar MouseDO RGD |
PMID:23643381 |
RGD:12832748 |
NCBI chr 7:110,725,274...110,735,544
Ensembl chr 7:110,725,274...110,735,544
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Sra1 |
steroid receptor RNA activator 1 |
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ISO |
ClinVar Annotator: match by term: Hypogonadism with anosmia |
ClinVar |
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NCBI chr18:28,269,192...28,273,023
Ensembl chr18:28,269,311...28,272,538
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Wdr11 |
WD repeat domain 11 |
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ISS |
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MouseDO |
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NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846
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Chd7 |
chromodomain helicase DNA binding protein 7 |
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ISO |
ClinVar Annotator: match by term: Kallmann syndrome 5 |
ClinVar |
PMID:9536098 PMID:16763960 PMID:17576681 PMID:18073582 PMID:18414213 PMID:18445044 PMID:18834967 PMID:21158681 PMID:21995344 PMID:22033296 PMID:22461308 PMID:22539353 PMID:23378218 PMID:23533228 PMID:24033266 PMID:24862881 PMID:25077900 PMID:25107291 PMID:25741868 PMID:25931334 PMID:26467025 PMID:28166811 PMID:28492532 PMID:29255181 PMID:29419413 PMID:30311386 PMID:31042289 PMID:32870266 More...
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NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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Ccdc141 |
coiled-coil domain containing 141 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
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NCBI chr 3:61,948,614...62,109,968
Ensembl chr 3:61,948,646...62,110,079
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Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:12627230 PMID:17200176 PMID:25636053 PMID:25741868 |
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NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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Plxna3 |
plexin A3 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
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Polr3b |
RNA polymerase III subunit B |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 PMID:25741868 PMID:26045207 PMID:26204956 PMID:27512013 PMID:28492532 PMID:28589944 PMID:32319736 More...
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NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
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Sema3f |
semaphorin 3F |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
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NCBI chr 8:108,357,629...108,387,083
Ensembl chr 8:108,357,629...108,387,083
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Spry4 |
sprouty RTK signaling antagonist 4 |
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ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
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NCBI chr18:30,436,513...30,451,426
Ensembl chr18:30,436,443...30,453,004
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Lhcgr |
luteinizing hormone/choriogonadotropin receptor |
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ISO |
ClinVar Annotator: match by term: HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT | ClinVar Annotator: match by term: Leydig cell agenesis | ClinVar Annotator: match by term: Luteinizing hormone resistance, female CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7527413 PMID:7562970 PMID:7581384 PMID:7692306 PMID:7714085 PMID:7719343 PMID:7757065 PMID:7892197 PMID:8559204 PMID:8855841 PMID:8923827 PMID:8943222 PMID:9514160 PMID:9626144 PMID:9703386 PMID:9817592 PMID:11849253 PMID:12050206 PMID:15372531 PMID:15472221 PMID:16123233 PMID:21490077 PMID:23861372 PMID:25741868 PMID:25741869 PMID:26040673 PMID:26467025 PMID:28492532 PMID:30283825 More...
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NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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Lhcgr |
luteinizing hormone/choriogonadotropin receptor |
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ISS ISO |
OMIM:238320 ClinVar Annotator: match by term: Leydig cell hypoplasia, type 1 | ClinVar Annotator: match by term: Leydig hypoplasia, type I |
MouseDO ClinVar |
PMID:7527413 PMID:7562970 PMID:7692306 PMID:7714085 PMID:7757065 PMID:7892197 PMID:8559204 PMID:8855841 PMID:8943222 PMID:9703386 PMID:21490077 PMID:23861372 PMID:25741868 PMID:26040673 PMID:26467025 PMID:28492532 PMID:30283825 More...
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NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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Lhcgr |
luteinizing hormone/choriogonadotropin receptor |
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ISO |
ClinVar Annotator: match by term: Leydig cell hypoplasia, type II |
ClinVar |
PMID:9215288 PMID:9626653 PMID:10852464 |
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NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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