RGD DISEASE ONTOLOGY - ANNOTATIONS
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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Cbx2
chromobox 2
no_association
ISO
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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Dmrt2
doublesex and mab-3 related transcription factor 2
ISO
ClinVar Annotator: match by term: Gonadal agenesis
ClinVar
PMID:25741868
NCBI chr 1:223,317,543...223,324,131
Ensembl chr 1:223,317,642...223,324,131
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Fmr1
fragile X messenger ribonucleoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22043169
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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Nr5a1
nuclear receptor subfamily 5, group A, member 1
treatment
IMP
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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Tspyl1
TSPY-like 1
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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Fancl
FA complementation group L
ISS
OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324
MouseDO
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
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
ISO
ClinVar Annotator: match by term: 46 XX gonadal dysgenesis
ClinVar
PMID:28492532 PMID:29566152
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246354
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
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
ISO
ClinVar Annotator: match by term: 46,XX sex reversal 2
OMIM ClinVar
PMID:21208124 PMID:22051515
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
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...
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
ISO
ClinVar Annotator: match by term: 46,xx sex reversal 5
OMIM ClinVar
PMID:27363585 PMID:29478779
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
ISO
ClinVar Annotator: match by term: 46 XX gonadal dysgenesis
ClinVar
PMID:28492532 PMID:29566152
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
ISO
ClinVar Annotator: match by term: SERKAL syndrome
OMIM ClinVar
PMID:18179883 PMID:25741868
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
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...
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
ISO
ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY
ClinVar
PMID:11549642 PMID:25741868 PMID:27899157
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
ISO
ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY
ClinVar
PMID:25741868 PMID:33189935
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
ISO
ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY
ClinVar
PMID:25741868
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
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10369247 PMID:11932325 PMID:15070943
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
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
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
ISO
ClinVar Annotator: match by term: 46,XY sex reversal 10
OMIM ClinVar
PMID:567843 PMID:6620326 PMID:22051515 PMID:25604083
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
ISO
ClinVar Annotator: match by term: 46,XY sex reversal 2
OMIM ClinVar
PMID:9486644
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
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...
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
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...
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
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...
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
ISO
ClinVar Annotator: match by term: 46,XY sex reversal 4
ClinVar
PMID:25741868
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
ISO
ClinVar Annotator: match by term: 46,XY sex reversal 5
OMIM ClinVar
PMID:19361780 PMID:25741868
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
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...
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
ISO
ClinVar Annotator: match by term: 46,XY sex reversal 7
OMIM ClinVar
PMID:15356051 PMID:25741868 PMID:28492532 PMID:30298535
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
ISO
ClinVar Annotator: match by term: 46,XY sex reversal 8
OMIM ClinVar
PMID:4352099 PMID:21802064 PMID:25741868
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
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...
NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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Dhx37
DEAH-box helicase 37
ISO
ClinVar Annotator: match by term: Testicular regression syndrome
OMIM ClinVar
PMID:25741868 PMID:31287541 PMID:31337883
NCBI chr12:31,194,782...31,214,890
Ensembl chr12:31,194,859...31,216,802
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Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
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...
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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Lmna
lamin A/C
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...
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Ppp2r3c
protein phosphatase 2, regulatory subunit B'', gamma
ISO
ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
OMIM ClinVar
PMID:25741868 PMID:30893644
NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491
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Prorp
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
ClinVar
PMID:25741868
NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Meacham Winn Culler syndrome | ClinVar Annotator: match by term: Meacham syndrome
OMIM ClinVar
PMID:1302008 PMID:1317572 PMID:1327525 PMID:1338906 PMID:1655284 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8810912 PMID:9090524 PMID:9529364 PMID:9536098 PMID:9607189 PMID:9916932 PMID:10470095 PMID:10505700 PMID:10603123 PMID:11182928 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17853480 PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:22099579 PMID:22172722 PMID:23325811 PMID:23349334 PMID:23497137 PMID:23562652 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24728327 PMID:25110071 PMID:25501161 PMID:25741868 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26358501 PMID:26467025 PMID:26725263 PMID:27013732 PMID:27300205 PMID:27899157 PMID:28204945 PMID:28492532 PMID:29474669 PMID:30963316 PMID:31937884 PMID:32352694 PMID:32581362 More...
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Fshr
follicle stimulating hormone receptor
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 1
OMIM ClinVar
PMID:7553856 PMID:8178824 PMID:9020851 PMID:9769327 PMID:9851774 PMID:10022448 PMID:10551778 PMID:11036902 PMID:11213123 PMID:11754099 PMID:11889179 PMID:12571157 PMID:15249125 PMID:15579795 PMID:15886248 PMID:16084888 PMID:16864747 PMID:17826728 PMID:18159088 PMID:19172541 PMID:19400992 PMID:20087398 PMID:20237833 PMID:21752882 PMID:22401810 PMID:23419799 PMID:25741868 PMID:28492532 PMID:29157895 PMID:30691934 PMID:31830376 More...
NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785
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Zswim7
zinc finger, SWIM-type containing 7
ISO
ClinVar Annotator: match by term: OVARIAN DYSGENESIS 10
OMIM ClinVar
PMID:34402903
NCBI chr10:46,953,311...46,969,800
Ensembl chr10:46,957,525...46,969,671
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Bmp15
bone morphogenetic protein 15
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 2 | ClinVar Annotator: match by term: Premature ovarian failure 4
OMIM ClinVar
PMID:15136966 PMID:16464940 PMID:16508750 PMID:16645022 PMID:18614612 PMID:19263482 PMID:20364024 PMID:20547206 PMID:25741868 PMID:28492532 PMID:31957178 More...
NCBI chr X:16,169,123...16,174,187
Ensembl chr X:16,169,123...16,174,187
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Mlx
MAX dimerization protein MLX
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 3
ClinVar
PMID:31042289
NCBI chr10:86,019,216...86,024,326
Ensembl chr10:86,019,588...86,032,350
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Nrxn1
neurexin 1
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 3
ClinVar
NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710
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Psmc3ip
PSMC3 interacting protein
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 3
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:31042289
NCBI chr10:86,024,281...86,027,928
Ensembl chr10:86,023,950...86,027,423
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Mcm9
minichromosome maintenance 9 homologous recombination repair factor
ISO
ClinVar Annotator: match by term: OVARIAN DYSGENESIS 4
OMIM ClinVar
PMID:25480036 PMID:25741868 PMID:26771056 PMID:31042289
NCBI chr20:32,818,219...32,929,577
Ensembl chr20:32,844,951...32,929,600
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Sohlh1
spermatogenesis and oogenesis specific basic helix-loop-helix 1
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 5
OMIM ClinVar
PMID:17301727 PMID:25741868 PMID:25774885
NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
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Nup107
nucleoporin 107
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 6
ClinVar OMIM
PMID:26485283
NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
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Mrps22
mitochondrial ribosomal protein S22
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 7
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29566152 PMID:31042289
NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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Esr2
estrogen receptor 2
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 8
ClinVar OMIM
PMID:30113650
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Spidr
scaffold protein involved in DNA repair
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 9
OMIM ClinVar
PMID:27967308 PMID:34697795
NCBI chr11:84,766,593...85,007,597
Ensembl chr11:84,766,593...85,007,600
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Rspo1
R-spondin 1
ISO
ClinVar Annotator: match by term: Palmoplantar hyperkeratosis and true hermaphroditism
ClinVar
PMID:18085567
NCBI chr 5:137,251,629...137,273,273
Ensembl chr 5:137,251,659...137,272,933
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Rspo1
R-spondin 1
ISO
ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal
ClinVar OMIM
PMID:16158431 PMID:17041600
NCBI chr 5:137,251,629...137,273,273
Ensembl chr 5:137,251,659...137,272,933
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Clpp
caseinolytic mitochondrial matrix peptidase proteolytic subunit
ISS
OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300
MouseDO
NCBI chr 9:1,831,680...1,837,700
Ensembl chr 9:1,830,311...1,837,693
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Hars2
histidyl-tRNA synthetase 2, mitochondrial
ISS
OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300
MouseDO
NCBI chr18:28,398,790...28,408,075
Ensembl chr18:28,398,795...28,414,747
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Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4
ISS ISO
OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300 ClinVar Annotator: match by term: Perrault syndrome
MouseDO ClinVar
PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:16385454 PMID:22864515 PMID:23181892 PMID:24033266 PMID:24108619 PMID:25741868 PMID:25967389 PMID:26970254 PMID:27290639 PMID:28492532 More...
NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
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Lars2
leucyl-tRNA synthetase 2, mitochondrial
ISS ISO
OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300 ClinVar Annotator: match by term: Perrault syndrome
MouseDO ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 PMID:32747562 More...
NCBI chr 8:123,010,271...123,108,957
Ensembl chr 8:123,010,293...123,106,395
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Perrault syndrome 1
ClinVar
PMID:25741868
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4
ISO
ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Perrault syndrome 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:4061497 PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:15216544 PMID:16385454 PMID:20673864 PMID:22864515 PMID:23181892 PMID:23332201 PMID:24033266 PMID:24108619 PMID:24553428 PMID:25526675 PMID:25741868 PMID:25967389 PMID:26243799 PMID:26467025 PMID:26970254 PMID:27290639 PMID:27790638 PMID:28017249 PMID:28492532 PMID:28830375 PMID:31455392 PMID:32747562 PMID:33539324 PMID:34906502 More...
NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
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Prorp
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Perrault syndrome 1
ClinVar
NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
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Hars2
histidyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Perrault syndrome 2
OMIM ClinVar
PMID:517579 PMID:21464306 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31449985 PMID:31486067 More...
NCBI chr18:28,398,790...28,408,075
Ensembl chr18:28,398,795...28,414,747
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Clpp
caseinolytic mitochondrial matrix peptidase proteolytic subunit
ISO
ClinVar Annotator: match by term: Perrault syndrome 3
OMIM ClinVar
PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24033266 PMID:24824130 PMID:25741868 PMID:26467025 PMID:27087618 More...
NCBI chr 9:1,831,680...1,837,700
Ensembl chr 9:1,830,311...1,837,693
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Lars2
leucyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Perrault syndrome 4
OMIM ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 PMID:26657938 PMID:26970254 PMID:28492532 PMID:28708303 PMID:29205794 PMID:30311386 PMID:30737337 PMID:32399598 PMID:32442335 PMID:32747562 More...
NCBI chr 8:123,010,271...123,108,957
Ensembl chr 8:123,010,293...123,106,395
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Twnk
twinkle mtDNA helicase
ISO
ClinVar Annotator: match by term: Perrault syndrome 5
OMIM ClinVar
PMID:25355836 PMID:25741868 PMID:28492532
NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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Eral1
Era-like 12S mitochondrial rRNA chaperone 1
ISO
ClinVar Annotator: match by term: Perrault syndrome 6
OMIM ClinVar
PMID:25741868 PMID:28449065
NCBI chr10:62,961,729...62,968,766
Ensembl chr10:62,961,730...62,968,994
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8265607
NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25101153
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Gh1
growth hormone 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15151564
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Igf1
insulin-like growth factor 1
ISO
protein:decreased activity:serum:
RGD
PMID:17067837
RGD:12743588
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igfbp3
insulin-like growth factor binding protein 3
treatment
ISO
DNA:SNP: :¿¿¿202 A>C(rs2854744)(human)
RGD
PMID:17067837 PMID:22278433
RGD:12743588 , RGD:12743598
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25101153
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25101153
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25101153
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Vdr
vitamin D receptor
susceptibility
ISO
DNA:SNP: :rs7975232(human)
RGD
PMID:21823528
RGD:13432073
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
18032
disease of anatomical entity
17412
endocrine system disease
6220
gonadal disease
1072
disorder of sexual development
205
gonadal dysgenesis
54
46 XX gonadal dysgenesis +
19
46,XX sex reversal +
7
46,XY sex reversal +
18
Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis
0
Kennerknecht Sorgo Oberhoffer Syndrome
0
Perrault syndrome +
8
Sexual Infantilism
1
Turner syndrome +
8
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
1
mixed gonadal dysgenesis +
0
Path 2
disease
18032
Developmental Disease
12742
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
11402
Congenital Abnormalities
6483
Urogenital Abnormalities
376
disorder of sexual development
205
gonadal dysgenesis
54
46 XX gonadal dysgenesis +
19
46,XX sex reversal +
7
46,XY sex reversal +
18
Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis
0
Kennerknecht Sorgo Oberhoffer Syndrome
0
Perrault syndrome +
8
Sexual Infantilism
1
Turner syndrome +
8
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
1
mixed gonadal dysgenesis +
0