|
G |
CKAP2L |
cytoskeleton associated protein 2 like |
|
ISO |
ClinVar Annotator: match by term: Hypogonadism |
ClinVar |
|
|
NCBI chr 3:43,736,526...43,772,995
Ensembl chr 3:43,736,744...43,772,974
|
|
G |
CYP11A1 |
cytochrome P450 family 11 subfamily A member 1 |
|
ISO |
mRNA:decreased expression:testis (rat) |
RGD |
PMID:17880366 |
RGD:4833436 |
NCBI chr 7:59,172,829...59,188,479
Ensembl chr 7:59,175,758...59,188,478
|
|
G |
CYP17A1 |
cytochrome P450 family 17 subfamily A member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18645707 |
|
NCBI chr14:113,805,616...113,820,445
Ensembl chr14:113,805,611...113,812,041
|
|
G |
CYP19A3 |
cytochrome P450 19A3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9177373 |
|
NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899
|
|
G |
EDN1 |
endothelin 1 |
|
ISO |
mRNA, protein:decreased expression:testis (rat) |
RGD |
PMID:17880366 |
RGD:4833436 |
NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
|
|
G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Hypergonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724
|
|
G |
FSHB |
follicle stimulating hormone subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:8263139 PMID:18449926 PMID:24739304 |
|
NCBI chr 2:30,395,769...30,399,282
Ensembl chr 2:30,395,018...30,399,274
|
|
G |
GNRH1 |
gonadotropin releasing hormone 1 |
treatment |
ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:3097822 PMID:20063086 |
RGD:9685135 |
NCBI chr14:9,442,971...9,447,521
Ensembl chr14:9,442,971...9,453,035
|
|
G |
HSD3B1 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 |
|
ISO |
mRNA:decreased expression:testis (rat) |
RGD |
PMID:17880366 |
RGD:4833436 |
NCBI chr 4:101,565,229...101,574,110
|
|
G |
IL17RD |
interleukin 17 receptor D |
|
ISO |
ClinVar Annotator: match by term: Hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr13:38,935,631...39,006,721
Ensembl chr13:38,939,316...39,006,690
|
|
G |
IL6 |
interleukin 6 |
|
ISO |
associated with Pancreatic Neoplasms |
RGD |
PMID:20221887 |
RGD:2317160 |
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
|
|
G |
KISS1R |
KISS1 receptor |
|
ISO |
Hypogonadotropic hypogonadism, OMIM:146110 DNA:deletion:exon:155-bp deletion of the intron4/exon5 splice acceptor site and part of exon 5 |
RGD |
PMID:12944565 |
RGD:1599279 |
NCBI chr 2:77,472,361...77,479,204
Ensembl chr 2:77,472,362...77,479,204
|
|
G |
LEP |
leptin |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:9500540 PMID:15070752 PMID:21790658 |
RGD:10053622 |
NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
|
|
G |
LEPR |
leptin receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17229951 |
|
NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
|
|
G |
LHB |
luteinizing hormone subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:1727547 PMID:8263139 PMID:15602022 PMID:18449926 |
|
NCBI chr 6:54,263,574...54,269,286
Ensembl chr 6:54,263,576...54,271,086
|
|
G |
LHCGR |
luteinizing hormone/choriogonadotropin receptor |
|
ISO |
ClinVar Annotator: match by term: Hypergonadotropic hypogonadism |
ClinVar |
PMID:2244890 PMID:7556872 PMID:9851790 PMID:12679452 PMID:25741868 PMID:26467025 PMID:28492532 More...
|
|
NCBI chr 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398
|
|
G |
NR0B1 |
nuclear receptor subfamily 0 group B member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7990958 |
|
NCBI chr X:26,117,874...26,122,951
Ensembl chr X:26,117,874...26,122,951
|
|
G |
POLD1 |
DNA polymerase delta 1, catalytic subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770608 |
|
NCBI chr 6:55,247,799...55,272,087
Ensembl chr 6:55,247,880...55,272,085
|
|
G |
POLR3B |
RNA polymerase III subunit B |
|
ISO |
ClinVar Annotator: match by term: Isolated 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...
|
|
NCBI chr 5:13,805,157...13,926,733
Ensembl chr 5:13,804,930...13,926,604
|
|
G |
POU6F2 |
POU class 6 homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Isolated hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr18:54,744,833...55,231,628
Ensembl chr18:54,748,790...55,231,511
|
|
G |
PRKG1 |
protein kinase cGMP-dependent 1 |
|
ISO |
mRNA, protein:decreased expression:Leydig cell |
RGD |
PMID:20463352 |
RGD:7775065 |
NCBI chr14:97,558,531...98,793,080
Ensembl chr14:97,558,533...98,793,010
|
|
G |
PRL |
prolactin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15829128 |
|
NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,710
|
|
G |
PROP1 |
PROP paired-like homeobox 1 |
|
ISO |
DNA:point mutation:exon:W194X |
RGD |
PMID:15941866 |
RGD:1601504 |
NCBI chr 2:79,627,466...79,631,270
Ensembl chr 2:79,627,603...79,631,270
|
|
G |
SLC29A3 |
solute carrier family 29 member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20140240 |
|
NCBI chr14:74,222,988...74,267,527
Ensembl chr14:74,223,115...74,274,646
|
|
G |
SNRPE |
small nuclear ribonucleoprotein polypeptide E |
|
ISO |
DNA:missense mutation:cds:p.E51D (mouse) |
RGD |
PMID:22258617 |
RGD:10768832 |
NCBI chr 9:64,560,544...64,567,007
Ensembl chr 9:64,560,523...64,567,007
|
|
G |
SOHLH1 |
spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic hypergonadotropic hypogonadism |
ClinVar |
PMID:17301727 PMID:25741868 PMID:25774885 |
|
|
|
G |
SRD5A2 |
steroid 5 alpha-reductase 2 |
|
ISO |
ClinVar Annotator: match by term: Hypergonadotropic hypogonadism |
ClinVar |
PMID:8110760 PMID:12699446 PMID:16181229 PMID:17609295 PMID:21147889 PMID:25266188 PMID:25741868 PMID:27070133 PMID:28492532 More...
|
|
NCBI chr 3:107,840,200...107,918,351
Ensembl chr 3:107,840,200...107,918,350
|
|
G |
STAG3 |
STAG3 cohesin complex component |
|
ISO |
ClinVar Annotator: match by term: Hypergonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:8,175,908...8,211,898
Ensembl chr 3:8,175,915...8,211,889
|
|
G |
STAR |
steroidogenic acute regulatory protein |
|
ISO |
mRNA:decreased expression:testis (rat) |
RGD |
PMID:17880366 |
RGD:4833436 |
NCBI chr15:48,377,597...48,385,398
Ensembl chr15:48,377,521...48,385,462
|
|
G |
TAC3 |
tachykinin precursor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19079066 |
|
NCBI chr 5:22,324,927...22,336,464
Ensembl chr 5:22,324,932...22,332,916
|
|
G |
TACR3 |
tachykinin receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19079066 |
|
NCBI chr 8:117,662,122...117,718,317
Ensembl chr 8:117,662,122...117,721,613
|
|
|
G |
FANCL |
FA complementation group L |
|
ISO |
OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324 |
MouseDO |
|
|
NCBI chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,253...83,436,942
|
|
G |
FSHR |
follicle stimulating hormone receptor |
|
ISO |
ClinVar Annotator: match by term: Gonadal dysgenesis, XX type | ClinVar Annotator: match by term: Ovarian dysgenesis |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683
|
|
G |
MRPS22 |
mitochondrial ribosomal protein S22 |
|
ISO |
ClinVar Annotator: match by term: 46 XX gonadal dysgenesis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29566152 |
|
NCBI chr13:80,006,656...80,232,107
Ensembl chr13:79,981,796...80,232,773
|
|
G |
NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19246354 |
|
NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
|
|
|
G |
SRY |
sex determining region Y |
|
ISO |
ClinVar Annotator: match by term: 46,XX sex reversal 1 |
OMIM ClinVar |
PMID:25741868 |
|
NCBI chr Y:40,484,990...40,485,700
Ensembl chr Y:40,484,990...40,485,700
|
|
|
G |
SOX9 |
SRY-box transcription factor 9 |
|
ISO |
ClinVar Annotator: match by term: 46,XX sex reversal 2 |
ClinVar |
PMID:21208124 PMID:22051515 |
|
NCBI chr12:8,642,154...8,647,315
Ensembl chr12:8,642,158...8,647,315
|
|
|
G |
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 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
|
|
|
G |
NR2F2 |
nuclear receptor subfamily 2 group F member 2 |
|
ISO |
ClinVar Annotator: match by term: 46,xx sex reversal 5 |
OMIM ClinVar |
PMID:25741868 PMID:27363585 PMID:29478779 |
|
NCBI chr 7:83,076,119...83,090,250
Ensembl chr 7:83,076,124...83,090,535
|
|
|
G |
MRPS22 |
mitochondrial ribosomal protein S22 |
|
ISO |
ClinVar Annotator: match by term: 46 XX gonadal dysgenesis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29566152 |
|
NCBI chr13:80,006,656...80,232,107
Ensembl chr13:79,981,796...80,232,773
|
|
G |
WNT4 |
Wnt family member 4 |
|
ISO |
ClinVar Annotator: match by term: SERKAL syndrome |
OMIM ClinVar |
PMID:18179883 PMID:25741868 |
|
NCBI chr 6:80,110,238...80,138,165
|
|
|
G |
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 5:15,114,524...15,119,610
Ensembl chr 5:15,114,527...15,119,577
|
|
|
G |
AR |
androgen receptor |
|
ISO |
ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY |
ClinVar |
PMID:25741868 |
|
NCBI chr X:53,609,113...53,806,778
Ensembl chr X:53,609,176...53,800,677
|
|
G |
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 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146
|
|
G |
DHH |
desert hedgehog signaling molecule |
susceptibility |
ISO |
DNA:missense mutation:exon ClinVar Annotator: match by term: 46,XY DSD/46,XY CGD |
RGD ClinVar |
PMID:11017805 |
RGD:1601053 |
NCBI chr 5:15,114,524...15,119,610
Ensembl chr 5:15,114,527...15,119,577
|
|
G |
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 1:220,841,485...220,953,442
Ensembl chr 1:220,841,488...220,953,442
|
|
G |
NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10369247 PMID:11932325 PMID:15070943 |
|
NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
|
|
G |
SRY |
sex determining region Y |
|
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:2247151 PMID:8257986 PMID:27576690 |
RGD:1598780 RGD:1599179 |
NCBI chr Y:40,484,990...40,485,700
Ensembl chr Y:40,484,990...40,485,700
|
|
|
G |
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:7717397 PMID:7718558 PMID:7981695 PMID:7985018 PMID:7987333 PMID:8019555 PMID:8105086 PMID:8257986 PMID:8353496 PMID:9150734 PMID:9443877 PMID:9450909 PMID:9521592 PMID:10670762 PMID:10843173 PMID:10852465 PMID:12107262 PMID:12409269 PMID:12793612 PMID:12919143 PMID:16510537 PMID:16675314 PMID:20528776 PMID:25741868 PMID:28492532 PMID:28787711 More...
|
|
NCBI chr Y:40,484,990...40,485,700
Ensembl chr Y:40,484,990...40,485,700
|
|
|
G |
SOX9 |
SRY-box transcription factor 9 |
|
ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 10 |
ClinVar |
PMID:6620326 PMID:22051515 PMID:25604083 |
|
NCBI chr12:8,642,154...8,647,315
Ensembl chr12:8,642,158...8,647,315
|
|
|
G |
NR0B1 |
nuclear receptor subfamily 0 group B member 1 |
|
ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 2 | ClinVar Annotator: match by term: 46XY sex reversal 2, dosage-sensitive |
OMIM ClinVar |
PMID:7990958 PMID:9195207 PMID:9486644 PMID:9529340 PMID:10599709 PMID:11748852 PMID:15841486 PMID:23512386 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr X:26,117,874...26,122,951
Ensembl chr X:26,117,874...26,122,951
|
|
|
G |
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 PMID:32992319 More...
|
|
NCBI chr14:14,858,470...14,938,156
Ensembl chr14:14,884,662...14,939,941
|
|
G |
NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
|
ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED |
OMIM ClinVar |
PMID:9536098 PMID:11932325 PMID:15070943 PMID:15472171 PMID:15579739 PMID:17200175 PMID:17576681 PMID:17694559 PMID:18414213 PMID:19246354 PMID:21691958 PMID:22028768 PMID:22474171 PMID:22549935 PMID:25122490 PMID:25326637 PMID:25741868 PMID:26523528 PMID:27169744 PMID:27378692 PMID:27490115 PMID:27610946 PMID:27855412 PMID:27899157 PMID:28033660 PMID:28492532 PMID:29095814 PMID:29935645 PMID:30425642 PMID:31513305 PMID:31745530 PMID:32738419 PMID:33202802 PMID:33351340 More...
|
|
NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
|
|
G |
ZFPM2 |
zinc finger protein, FOG family member 2 |
|
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:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24033266 PMID:24549039 PMID:24702427 PMID:25741868 PMID:27899157 PMID:28492532 PMID:31962012 More...
|
|
NCBI chr 4:31,607,968...31,996,226
Ensembl chr 4:31,606,773...32,094,287
|
|
|
G |
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 1:220,841,485...220,953,442
Ensembl chr 1:220,841,488...220,953,442
|
|
|
G |
CBX2 |
chromobox 2 |
|
ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 5 |
OMIM ClinVar |
PMID:19361780 PMID:25741868 |
|
NCBI chr12:2,570,841...2,580,336
Ensembl chr12:2,570,851...2,580,337
|
|
|
G |
MAP3K1 |
mitogen-activated protein kinase kinase kinase 1 |
|
ISO |
ClinVar Annotator: match by term: 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED | ClinVar Annotator: match by term: 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, MAP3K1-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 6 |
OMIM ClinVar |
PMID:5419329 PMID:11242112 PMID:12476449 PMID:20301714 PMID:21129722 PMID:24135036 PMID:24497709 PMID:25326637 PMID:25383892 PMID:25741868 PMID:27899157 PMID:28492532 PMID:28504475 PMID:30608580 PMID:30872814 PMID:32985417 More...
|
|
NCBI chr16:35,872,301...35,947,097
Ensembl chr16:35,872,131...35,946,987
|
|
|
G |
DHH |
desert hedgehog signaling molecule |
|
ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 7 | ClinVar Annotator: match by term: DHH-Related 46,XY complete gonadal dysgenesis |
OMIM ClinVar |
PMID:15356051 PMID:25741868 PMID:28492532 PMID:30298535 |
|
NCBI chr 5:15,114,524...15,119,610
Ensembl chr 5:15,114,527...15,119,577
|
|
|
G |
ZFPM2 |
zinc finger protein, FOG family member 2 |
|
ISO |
ClinVar Annotator: match by term: 46,XY SEX REVERSAL, ZFPM2-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 9 |
OMIM ClinVar |
PMID:9536098 PMID:14517948 PMID:17568391 PMID:17576681 PMID:20807224 PMID:21919901 PMID:24033266 PMID:24549039 PMID:24702427 PMID:25107291 PMID:25741868 PMID:27899157 PMID:28166811 PMID:28492532 PMID:31962012 PMID:34008892 More...
|
|
NCBI chr 4:31,607,968...31,996,226
Ensembl chr 4:31,606,773...32,094,287
|
|
|
G |
DCAF17 |
DDB1 and CUL4 associated factor 17 |
|
ISO |
ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr15:77,564,629...77,603,913
Ensembl chr15:77,564,646...77,603,620
|
|
|
G |
DHX37 |
DEAH-box helicase 37 |
|
ISO |
ClinVar Annotator: match by term: Congenital absence of testes | ClinVar Annotator: match by term: TESTICULAR REGRESSION, EMBRYONIC |
OMIM ClinVar |
PMID:25741868 PMID:26539891 PMID:28492532 PMID:31287541 PMID:31337883 |
|
NCBI chr14:28,206,152...28,242,436
Ensembl chr14:28,211,579...28,242,435
|
|
G |
LHCGR |
luteinizing hormone/choriogonadotropin receptor |
|
ISO |
ClinVar Annotator: match by term: Congenital absence of testes |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398
|
|
|
G |
CPE |
carboxypeptidase E |
|
ISO |
ClinVar Annotator: match by term: BDV syndrome | ClinVar Annotator: match by term: BLAKEMORE-DURMAZ-VASILEIOU SYNDROME | ClinVar Annotator: match by term: CPE-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26120850 PMID:28492532 PMID:34383079 |
|
NCBI chr 8:43,568,744...43,695,475
Ensembl chr 8:43,565,054...43,696,268
|
|
|
G |
PHF6 |
PHD finger protein 6 |
|
ISO |
ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS | ClinVar Annotator: match by term: Mental deficiency, epilepsy and endocrine disorders |
OMIM ClinVar |
PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15994862 PMID:18414213 PMID:23906836 PMID:24092917 PMID:24728327 PMID:25099957 PMID:25741868 PMID:25741869 PMID:26648834 PMID:27633282 PMID:27698851 PMID:28492532 PMID:28539120 PMID:28554332 PMID:30630810 PMID:35662002 More...
|
|
NCBI chr X:110,249,010...110,311,503
Ensembl chr X:110,249,010...110,303,017
|
|
|
G |
MCOLN1 |
mucolipin TRP cation channel 1 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 2:71,602,888...71,613,331
Ensembl chr 2:71,602,770...71,613,312
|
|
G |
PNPLA6 |
patatin like phospholipase domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism |
OMIM ClinVar |
PMID:3963113 PMID:8053762 PMID:9321767 PMID:18313024 PMID:20603202 PMID:23733235 PMID:24355708 PMID:25033069 PMID:25267340 PMID:25299038 PMID:25359264 PMID:25480986 PMID:25574898 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29248984 PMID:30555943 PMID:31135245 PMID:31780887 PMID:32623594 PMID:33141049 PMID:34234304 PMID:34445196 PMID:35069422 PMID:35872528 More...
|
|
NCBI chr 2:71,577,165...71,602,756
Ensembl chr 2:71,577,168...71,602,777
|
|
G |
PURA |
purine rich element binding protein A |
|
ISO |
ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:141,877,775...141,899,259
Ensembl chr 2:141,884,155...141,886,330
|
|
|
G |
CYP11A1 |
cytochrome P450 family 11 subfamily A member 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:9536098 PMID:11502818 PMID:12161514 PMID:15507506 PMID:16705068 PMID:17576681 PMID:18182448 PMID:19116240 PMID:21159840 PMID:21880796 PMID:23337730 PMID:24033266 PMID:25741868 PMID:26300845 PMID:27008691 PMID:28492532 PMID:29178636 PMID:30233493 PMID:30299480 PMID:30620006 PMID:31289154 PMID:34281122 More...
|
|
NCBI chr 7:59,172,829...59,188,479
Ensembl chr 7:59,175,758...59,188,478
|
|
|
G |
ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
|
ISO |
ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME |
ClinVar OMIM |
PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 PMID:9536098 PMID:10196384 PMID:10767341 PMID:11809892 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18628313 PMID:18784753 PMID:19894250 PMID:20122405 PMID:20456449 PMID:21143350 PMID:21228398 PMID:22661500 PMID:22904069 PMID:23311583 PMID:23422418 PMID:23428416 PMID:24033266 PMID:24154677 PMID:25136123 PMID:25326635 PMID:25356239 PMID:25463447 PMID:25677497 PMID:25741868 PMID:25820262 PMID:26206375 PMID:26218421 PMID:26620705 PMID:27004399 PMID:27186691 PMID:27356891 PMID:28170084 PMID:28440418 PMID:28492532 PMID:29203878 PMID:29572252 PMID:29915382 PMID:30111349 PMID:31130284 PMID:31501894 PMID:32453336 PMID:32496904 PMID:32504035 PMID:32557569 PMID:32853555 PMID:33904453 PMID:34005834 PMID:34052969 PMID:38177409 More...
|
|
NCBI chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898
|
|
|
G |
LMNA |
lamin A/C |
|
ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | ClinVar Annotator: match by term: Genital anomaly with cardiomyopathy |
OMIM ClinVar |
PMID:2007407 PMID:2270059 PMID:2526018 PMID:2733290 PMID:4684700 PMID:9500556 PMID:9536098 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10868844 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11015599 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11231979 PMID:11342468 PMID:11344241 PMID:11792809 PMID:11897440 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12647844 PMID:12669268 PMID:12716787 PMID:12920062 PMID:12927424 PMID:12927431 PMID:13129702 PMID:14510863 PMID:14607793 PMID:14659775 PMID:14749366 PMID:14985400 PMID:15060110 PMID:15219508 PMID:15298354 PMID:15531479 PMID:15539782 PMID:15678000 PMID:15770669 PMID:15965218 PMID:16181372 PMID:16199547 PMID:16364671 PMID:16415042 PMID:16459536 PMID:16585054 PMID:16630578 PMID:16671095 PMID:16715312 PMID:17150192 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17524034 PMID:17576681 PMID:17711925 PMID:17893350 PMID:17987279 PMID:18035086 PMID:18182166 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18551513 PMID:18585512 PMID:18728124 PMID:18795223 PMID:18926329 PMID:19011997 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19283854 PMID:19318026 PMID:19401371 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19446900 PMID:19574635 PMID:19622949 PMID:19638735 PMID:19842191 PMID:19859838 PMID:19875404 PMID:19882644 PMID:20074070 PMID:20130076 PMID:20155465 PMID:20160190 PMID:20307303 PMID:20497714 PMID:20625965 PMID:20662858 PMID:20848652 PMID:21479595 PMID:21520333 PMID:21831885 PMID:21840938 PMID:21875900 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22103509 PMID:22177269 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22355414 PMID:22464770 PMID:22526018 PMID:22570643 PMID:22700598 PMID:23183350 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23582089 PMID:23702046 PMID:23783098 PMID:23804595 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24033266 PMID:24058181 PMID:24080738 PMID:24108105 PMID:24375749 PMID:24503780 PMID:24623722 PMID:24846508 PMID:24943589 PMID:25025039 PMID:25163546 PMID:25448463 PMID:25524705 PMID:25525159 PMID:25617006 PMID:25637381 PMID:25741868 PMID:25741916 PMID:25793944 PMID:25873806 PMID:25885670 PMID:26027246 PMID:26084686 PMID:26383259 PMID:26467025 PMID:26468400 PMID:26498160 PMID:26662654 PMID:26724531 PMID:26733286 PMID:26756202 PMID:26899768 PMID:26976018 PMID:27000522 PMID:27153395 PMID:27332903 PMID:27405450 PMID:27421120 PMID:27447704 PMID:27504462 PMID:27506821 PMID:27532257 PMID:27585670 PMID:27633507 PMID:27650965 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27884249 PMID:27896284 PMID:28082330 PMID:28087566 PMID:28254189 PMID:28416588 PMID:28492532 PMID:28531892 PMID:28620495 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28790152 PMID:28807990 PMID:28878402 PMID:29095976 PMID:29149195 PMID:29237675 PMID:29255176 PMID:29438482 PMID:29620724 PMID:29693488 PMID:29773157 PMID:29892087 PMID:29943882 PMID:29952368 PMID:30007954 PMID:30012837 PMID:30165155 PMID:30165862 PMID:30287275 PMID:30326651 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30429050 PMID:30528549 PMID:30847666 PMID:30871747 PMID:30954027 PMID:31019283 PMID:31194872 PMID:31264968 PMID:31303467 PMID:31383942 PMID:31447099 PMID:31476771 PMID:31521807 PMID:31539150 PMID:31744510 PMID:31829210 PMID:31836692 PMID:31977013 PMID:31983221 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32193531 PMID:32376792 PMID:32413188 PMID:32571898 PMID:32818388 PMID:32880476 PMID:33407844 PMID:33502018 PMID:33803652 PMID:33963534 PMID:34011823 PMID:34340952 PMID:34495297 PMID:34768595 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34865644 PMID:35026164 PMID:35291351 PMID:35449878 PMID:35772917 PMID:36267857 PMID:36397776 PMID:36646731 PMID:37246508 PMID:37679847 More...
|
|
NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320
|
|
|
G |
CBX2 |
chromobox 2 |
no_association |
ISO |
|
RGD |
PMID:23219007 |
RGD:9586730 |
NCBI chr12:2,570,841...2,580,336
Ensembl chr12:2,570,851...2,580,337
|
|
G |
DMRT2 |
doublesex and mab-3 related transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Gonadal agenesis |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:220,745,493...220,799,779
Ensembl chr 1:220,745,502...220,757,324
|
|
G |
FMR1 |
Fragile X messenger ribonucleoprotein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22043169 |
|
NCBI chr X:120,361,232...120,400,282
Ensembl chr X:120,361,367...120,399,831
|
|
G |
NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
treatment |
ISO |
|
RGD |
PMID:16467257 |
RGD:12904919 |
NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
|
|
G |
TSPYL1 |
TSPY like 1 |
|
ISO |
sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800 |
RGD |
PMID:15273283 |
RGD:1599672 |
NCBI chr 1:81,906,168...81,909,461
Ensembl chr 1:81,908,075...81,909,249
|
|
G |
WT1 |
WT1 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Gonadal dysgenesis |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997
|
|
|
G |
RNF216 |
ring finger protein 216 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar ataxia and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome |
OMIM ClinVar |
PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 PMID:28492532 PMID:32982993 More...
|
|
NCBI chr 3:4,158,447...4,329,458
Ensembl chr 3:4,158,450...4,329,378
|
|
|
G |
PLEKHG5 |
pleckstrin homology and RhoGEF domain containing G5 |
|
ISO |
ClinVar Annotator: match by term: Testicular atrophy |
ClinVar |
PMID:25741868 PMID:26392352 PMID:28492532 |
|
NCBI chr 6:67,316,818...67,373,787
Ensembl chr 6:67,321,534...67,362,838
|
|
G |
SLC30A7 |
solute carrier family 30 member 7 |
|
ISO |
ClinVar Annotator: match by term: Testicular atrophy |
ClinVar |
PMID:25741868 PMID:36821639 |
|
NCBI chr 4:117,320,229...117,396,383
Ensembl chr 4:117,314,845...117,396,495
|
|
G |
TP53 |
tumor protein p53 |
|
ISO |
|
RGD |
PMID:28834365 |
RGD:14995504 |
NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
|
|
|
G |
ANOS1 |
anosmin 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr X:5,163,638...5,363,835 NCBI chr Y:3,807,032...4,014,112
|
|
G |
CCDC141 |
coiled-coil domain containing 141 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
|
|
NCBI chr15:84,534,725...84,745,296
Ensembl chr15:84,535,922...84,734,182
|
|
G |
CHD7 |
chromodomain helicase DNA binding protein 7 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:15300250 PMID:16155193 PMID:18073582 PMID:20884005 PMID:21158681 PMID:22539353 PMID:25472840 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146
|
|
G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:12627230 PMID:17200176 PMID:25636053 PMID:25741868 PMID:28492532 PMID:32853167 PMID:33548149 More...
|
|
NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724
|
|
G |
HS6ST1 |
heparan sulfate 6-O-sulfotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr15:59,066,448...59,108,780
Ensembl chr15:59,066,604...59,108,772
|
|
G |
KISS1R |
KISS1 receptor |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:77,472,361...77,479,204
Ensembl chr 2:77,472,362...77,479,204
|
|
G |
NHLH2 |
nescient helix-loop-helix 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 PMID:35066646 |
|
NCBI chr 4:104,852,287...104,858,042
Ensembl chr 4:104,857,635...104,858,042
|
|
G |
NLGN3 |
neuroligin 3 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
|
|
NCBI chr X:57,174,506...57,204,770
Ensembl chr X:57,176,103...57,201,461
|
|
G |
NR5A1 |
nuclear receptor subfamily 5 group A member 1 |
|
ISO |
|
MouseDO |
|
|
NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
|
|
G |
PLXNA3 |
plexin A3 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr X:124,982,307...124,997,098
Ensembl chr X:124,983,943...124,997,072
|
|
G |
POLR3B |
RNA polymerase III subunit B |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia |
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...
|
|
NCBI chr 5:13,805,157...13,926,733
Ensembl chr 5:13,804,930...13,926,604
|
|
G |
POU6F2 |
POU class 6 homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia |
ClinVar |
PMID:25741868 |
|
NCBI chr18:54,744,833...55,231,628
Ensembl chr18:54,748,790...55,231,511
|
|
G |
PROK2 |
prokineticin 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr13:53,169,040...53,184,695
Ensembl chr13:53,169,524...53,185,171
|
|
G |
SEMA3F |
semaphorin 3F |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr13:32,641,376...32,671,231
Ensembl chr13:32,641,424...32,671,223
|
|
G |
SPRY4 |
sprouty RTK signaling antagonist 4 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:143,877,334...143,891,280
Ensembl chr 2:143,875,355...143,892,292
|
|
G |
TACR3 |
tachykinin receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:117,662,122...117,718,317
Ensembl chr 8:117,662,122...117,721,613
|
|
G |
WDR11 |
WD repeat domain 11 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:20887964 PMID:25741868 PMID:28492532 |
|
NCBI chr14:130,618,924...130,674,536
Ensembl chr14:130,511,592...130,674,774
|
|
|
G |
ANOS1 |
anosmin 1 |
|
ISO |
ClinVar Annotator: match by term: ANOS1-related condition | 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:18259106 PMID:21681106 PMID:22035731 PMID:23100014 PMID:23410897 PMID:23533228 PMID:23643382 PMID:23721716 PMID:23849776 PMID:24031091 PMID:25064402 PMID:25077900 PMID:25339597 PMID:25636053 PMID:25640679 PMID:25741868 PMID:26467025 PMID:26708526 PMID:26862482 PMID:27657687 PMID:28122887 PMID:28295047 PMID:28492532 PMID:28566479 PMID:28708303 PMID:29211946 PMID:29758562 PMID:30098700 PMID:31200363 PMID:31602316 PMID:32870266 More...
|
|
NCBI chr X:5,163,638...5,363,835 NCBI chr Y:3,807,032...4,014,112
|
|
|
G |
TAC3 |
tachykinin precursor 3 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 10 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 10 without anosmia |
OMIM ClinVar |
PMID:19079066 PMID:20332248 |
|
NCBI chr 5:22,324,927...22,336,464
Ensembl chr 5:22,324,932...22,332,916
|
|
|
G |
TACR3 |
tachykinin receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 11 with or without anosmia |
OMIM ClinVar |
PMID:16199547 PMID:18422838 PMID:19079066 PMID:20194706 PMID:20332248 PMID:21300340 PMID:22031817 PMID:22035731 PMID:23329188 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32763379 PMID:33363893 More...
|
|
NCBI chr 8:117,662,122...117,718,317
Ensembl chr 8:117,662,122...117,721,613
|
|
|
G |
GNRH1 |
gonadotropin releasing hormone 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia | ClinVar Annotator: match by term: Isolated GnRH Deficiency |
OMIM ClinVar |
PMID:19535795 PMID:19567835 PMID:26467025 PMID:28492532 |
|
NCBI chr14:9,442,971...9,447,521
Ensembl chr14:9,442,971...9,453,035
|
|
G |
TACR3 |
tachykinin receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Isolated GnRH Deficiency |
ClinVar |
|
|
NCBI chr 8:117,662,122...117,718,317
Ensembl chr 8:117,662,122...117,721,613
|
|
|
G |
WDR11 |
WD repeat domain 11 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with or without anosmia |
OMIM ClinVar |
PMID:20887964 PMID:25741868 PMID:28492532 PMID:29263200 |
|
NCBI chr14:130,618,924...130,674,536
Ensembl chr14:130,511,592...130,674,774
|
|
|
G |
HS6ST1 |
heparan sulfate 6-O-sulfotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with or without anosmia |
OMIM ClinVar |
PMID:6881209 PMID:21700882 PMID:23643382 PMID:24033266 PMID:25077900 PMID:25636053 PMID:25741868 PMID:27535533 PMID:28492532 More...
|
|
NCBI chr15:59,066,448...59,108,780
Ensembl chr15:59,066,604...59,108,772
|
|
|
G |
SEMA3A |
semaphorin 3A |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia | ClinVar Annotator: match by term: SEMA3A-related condition |
OMIM ClinVar |
PMID:22416012 PMID:22927827 PMID:24033266 PMID:24728844 PMID:24963029 PMID:25636053 PMID:25741868 PMID:28492532 PMID:29419413 PMID:30098700 PMID:32060892 PMID:32870266 More...
|
|
NCBI chr 9:95,934,937...96,387,950
Ensembl chr 9:96,181,770...96,387,950
|
|
|
G |
SPRY4 |
sprouty RTK signaling antagonist 4 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 17 with or without anosmia |
OMIM ClinVar |
PMID:23643382 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32870266 |
|
NCBI chr 2:143,877,334...143,891,280
Ensembl chr 2:143,875,355...143,892,292
|
|
|
G |
IL17RD |
interleukin 17 receptor D |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with or without anosmia |
OMIM ClinVar |
PMID:23643382 PMID:25636053 PMID:25741868 PMID:28492532 |
|
NCBI chr13:38,935,631...39,006,721
Ensembl chr13:38,939,316...39,006,690
|
|
|
G |
DUSP6 |
dual specificity phosphatase 6 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 19 with or without anosmia |
OMIM ClinVar |
PMID:23643382 PMID:25741868 PMID:28492532 |
|
NCBI chr 5:93,303,058...93,307,510
Ensembl chr 5:93,302,975...93,307,504
|
|
|
G |
ADAM9 |
ADAM metallopeptidase domain 9 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
|
NCBI chr15:47,523,768...47,601,722
Ensembl chr15:47,523,771...47,601,710
|
|
G |
ADGRA2 |
adhesion G protein-coupled receptor A2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
|
NCBI chr15:48,572,953...48,611,034
Ensembl chr15:48,573,197...48,610,668
|
|
G |
ADRB3 |
adrenoceptor beta 3 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
|
NCBI chr15:48,468,803...48,478,370
Ensembl chr15:48,475,144...48,479,562
|
|
G |
ASH2L |
ASH2 like, histone lysine methyltransferase complex subunit |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
|
NCBI chr15:48,386,426...48,417,560
Ensembl chr15:48,386,425...48,417,547
|
|
G |
BAG4 |
BAG cochaperone 4 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
|
NCBI chr15:48,299,456...48,348,810
Ensembl chr15:48,299,666...48,348,527
|
|
G |
BRF2 |
BRF2 RNA polymerase III transcription initiation factor subunit |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
|
NCBI chr15:48,568,207...48,573,036
Ensembl chr15:48,568,202...48,573,029
|
|
G |
DDHD2 |
DDHD domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
|
NCBI chr15:48,239,932...48,292,413
Ensembl chr15:48,252,338...48,292,181
|
|
G |
EIF4EBP1 |
eukaryotic translation initiation factor 4E binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
|
NCBI chr15:48,423,001...48,443,373
Ensembl chr15:48,422,816...48,443,399
|
|
G |
ERLIN2 |
ER lipid raft associated 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
|
NCBI chr15:48,643,722...48,662,648
Ensembl chr15:48,643,724...48,662,536
|
|
G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia | ClinVar Annotator: match by term: Kallmann syndrome 2 |
OMIM ClinVar |
PMID:1456217 PMID:6881209 PMID:7795583 PMID:7874169 PMID:8948562 PMID:9536098 PMID:10629055 PMID:10690855 PMID:10861678 PMID:10942429 PMID:11173846 PMID:12627230 PMID:14513299 PMID:14564217 PMID:14613973 PMID:15001591 PMID:15365636 PMID:15605412 PMID:15625620 PMID:15793702 PMID:16199547 PMID:16418210 PMID:16470795 PMID:16606836 PMID:16757108 PMID:16764984 PMID:16882753 PMID:16957473 PMID:17154279 PMID:17200176 PMID:17235395 PMID:17360555 PMID:17530415 PMID:17576681 PMID:17963255 PMID:18034870 PMID:18160472 PMID:18596921 PMID:18985070 PMID:19489874 PMID:19707180 PMID:19820032 PMID:20079901 PMID:20536592 PMID:20696889 PMID:21209029 PMID:21247312 PMID:21700882 PMID:22035731 PMID:22249004 PMID:22319038 PMID:22378383 PMID:23154428 PMID:23329143 PMID:23348397 PMID:23533228 PMID:23643382 PMID:23657145 PMID:23812909 PMID:24031091 PMID:24127277 PMID:24204987 PMID:24497711 PMID:24759409 PMID:25064402 PMID:25077900 PMID:25157968 PMID:25251565 PMID:25383892 PMID:25394172 PMID:25425165 PMID:25501157 PMID:25636053 PMID:25741868 PMID:25759380 PMID:26467025 PMID:26708526 PMID:26931467 PMID:26942290 PMID:27170295 PMID:27246988 PMID:27363716 PMID:27502037 PMID:27596331 PMID:27884173 PMID:27884859 PMID:28008864 PMID:28492532 PMID:28754744 PMID:28833369 PMID:28915117 PMID:29168297 PMID:29419413 PMID:30098700 PMID:30143558 PMID:30921766 PMID:31200363 PMID:31475041 PMID:31605817 PMID:31748124 PMID:31837199 PMID:31996231 PMID:32666525 PMID:32724172 PMID:32853167 PMID:33337535 PMID:33442024 PMID:33448156 PMID:33532864 PMID:33548149 PMID:33983622 PMID:34342100 PMID:34348883 PMID:35738466 More...
|
|
NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724
|
|
G |
GOT1L1 |
glutamic-oxaloacetic transaminase 1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
|
NCBI chr15:48,500,156...48,506,992
Ensembl chr15:48,499,964...48,507,010
|
|
G |
HTRA4 |
HtrA serine peptidase 4 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
|
NCBI chr15:47,610,580...47,625,889
|
|
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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
|
NCBI chr15:48,110,645...48,132,429
Ensembl chr15:48,110,652...48,131,991
|
|
G |
LSM1 |
LSM1 homolog, mRNA degradation associated |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
|
NCBI chr15:48,348,653...48,360,004
Ensembl chr15:48,348,648...48,365,106
|
|
G |
NSD3 |
nuclear receptor binding SET domain protein 3 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
|
NCBI chr15:48,119,132...48,245,673
Ensembl chr15:48,136,363...48,241,815
|
|
G |
PLEKHA2 |
pleckstrin homology domain containing A2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
|
NCBI chr15:47,626,107...47,697,238
Ensembl chr15:47,626,110...47,697,603
|
|
G |
PLPBP |
pyridoxal phosphate binding protein |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
|
NCBI chr15:48,624,790...48,636,584
Ensembl chr15:48,624,837...48,636,589
|
|
G |
PLPP5 |
phospholipid phosphatase 5 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
|
NCBI chr15:48,246,054...48,251,839
Ensembl chr15:48,246,029...48,252,196
|
|
G |
PROKR2 |
prokineticin receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:4276467 PMID:8954047 PMID:11259612 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18826963 PMID:20022991 PMID:20696889 PMID:21858136 PMID:22466334 PMID:22927827 PMID:23386640 PMID:23533228 PMID:23596439 PMID:23643382 PMID:24031091 PMID:24276467 PMID:25741868 PMID:28492532 PMID:33227799 More...
|
|
NCBI chr17:14,243,738...14,257,346
Ensembl chr17:14,242,515...14,257,307
|
|
G |
RAB11FIP1 |
RAB11 family interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
|
NCBI chr15:48,527,379...48,561,408
|
|
G |
STAR |
steroidogenic acute regulatory protein |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
|
NCBI chr15:48,377,597...48,385,398
Ensembl chr15:48,377,521...48,385,462
|
|
G |
TACC1 |
transforming acidic coiled-coil containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
|
NCBI chr15:47,749,079...47,861,200
|
|
G |
TM2D2 |
TM2 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia |
ClinVar |
PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 |
|
NCBI chr15:47,601,940...47,611,802
Ensembl chr15:47,601,616...47,611,804
|
|
|
G |
FGF17 |
fibroblast growth factor 17 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 20 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 20 without anosmia |
OMIM ClinVar |
PMID:6881209 PMID:21700882 PMID:23643382 |
|
NCBI chr14:6,310,840...6,315,465
Ensembl chr14:6,309,735...6,315,882
|
|
|
G |
FLRT3 |
fibronectin leucine rich transmembrane protein 3 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia |
OMIM ClinVar |
PMID:23643382 PMID:25741868 PMID:28492532 |
|
NCBI chr17:22,940,491...22,955,277
Ensembl chr17:22,940,492...22,954,424
|
|
G |
MACROD2 |
mono-ADP ribosylhydrolase 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia |
ClinVar |
PMID:23643382 PMID:25741868 PMID:28492532 |
|
NCBI chr17:22,635,105...24,686,846
Ensembl chr17:22,635,284...24,683,549
|
|
|
G |
FEZF1 |
FEZ family zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 22 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 22 with or without anosmia |
OMIM ClinVar |
PMID:25192046 PMID:25741868 |
|
NCBI chr18:24,881,850...24,884,790
Ensembl chr18:24,879,031...24,884,917
|
|
|
G |
LHB |
luteinizing hormone subunit beta |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 23 with or without anosmia |
OMIM ClinVar |
PMID:429481 PMID:1727547 PMID:8979264 PMID:9457942 PMID:9694256 PMID:11384661 PMID:12189497 PMID:12620433 PMID:15602022 PMID:17761593 PMID:19126631 PMID:19890128 PMID:22723313 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 6:54,263,574...54,269,286
Ensembl chr 6:54,263,576...54,271,086
|
|
|
G |
FSHB |
follicle stimulating hormone subunit beta |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 24 without anosmia |
OMIM ClinVar |
PMID:4344039 PMID:8220432 PMID:9271483 PMID:9280841 PMID:9624193 PMID:9806482 PMID:12161499 PMID:20488225 PMID:22791757 PMID:25052309 PMID:25741868 PMID:28392474 PMID:28492532 PMID:32242295 More...
|
|
NCBI chr 2:30,395,769...30,399,282
Ensembl chr 2:30,395,018...30,399,274
|
|
|
G |
NDNF |
neuron derived neurotrophic factor |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 25 with anosmia |
OMIM ClinVar |
PMID:25741868 PMID:31883645 |
|
NCBI chr 8:103,047,783...103,094,800
Ensembl chr 8:102,996,281...103,088,230
|
|
|
G |
TCF12 |
transcription factor 12 |
|
ISO |
ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 26 with or without anosmia |
OMIM ClinVar |
PMID:23354436 PMID:25741868 PMID:28492532 PMID:32620954 |
|
NCBI chr 1:114,682,299...115,056,363
Ensembl chr 1:114,682,303...115,056,262
|
|
|
G |
MAN2C1 |
mannosidase alpha class 2C member 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 27 without anosmia |
ClinVar |
|
|
NCBI chr 7:58,247,264...58,261,204
Ensembl chr 7:58,248,384...58,261,203
|
|
G |
NHLH2 |
nescient helix-loop-helix 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 27 without anosmia |
OMIM ClinVar |
PMID:25741868 PMID:35066646 |
|
NCBI chr 4:104,852,287...104,858,042
Ensembl chr 4:104,857,635...104,858,042
|
|
|
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 | ClinVar Annotator: match by term: Kallmann syndrome 3 |
OMIM ClinVar |
PMID:1855992 PMID:2403109 PMID:4276467 PMID:8954047 PMID:11259612 PMID:16537498 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18723471 PMID:18826963 PMID:18985070 PMID:20022991 PMID:20502053 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:24204987 PMID:24276467 PMID:24753254 PMID:24830383 PMID:25531638 PMID:25636053 PMID:25678757 PMID:25741868 PMID:25759380 PMID:26031747 PMID:26467025 PMID:27899157 PMID:28209183 PMID:28492532 PMID:28754744 PMID:28858133 PMID:29161432 PMID:30311386 PMID:30430143 PMID:30576231 PMID:30669598 PMID:30773290 PMID:31093944 PMID:31781422 PMID:32400067 PMID:32763379 PMID:32870266 PMID:33227799 PMID:33411215 PMID:33468338 PMID:33587123 PMID:33729509 PMID:34348883 PMID:34539727 PMID:35090434 PMID:35173048 PMID:35669683 PMID:35922219 PMID:36694982 PMID:36843573 More...
|
|
NCBI chr17:14,243,738...14,257,346
Ensembl chr17:14,242,515...14,257,307
|
|
|
G |
PROK2 |
prokineticin 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 4 with or without anosmia | ClinVar Annotator: match by term: PROK2-related condition |
OMIM ClinVar |
PMID:17054399 PMID:17959774 PMID:18285834 PMID:18559922 PMID:18682503 PMID:20022991 PMID:23643382 PMID:24423319 PMID:25741868 PMID:26141714 PMID:26467025 PMID:28492532 PMID:31200363 More...
|
|
NCBI chr13:53,169,040...53,184,695
Ensembl chr13:53,169,524...53,185,171
|
|
|
G |
CHD7 |
chromodomain helicase DNA binding protein 7 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia |
OMIM ClinVar |
PMID:9536098 PMID:15300250 PMID:16155193 PMID:16400610 PMID:16615981 PMID:16763960 PMID:17576681 PMID:18073582 PMID:18074359 PMID:18414213 PMID:18445044 PMID:18834967 PMID:20884005 PMID:21158681 PMID:21931733 PMID:21995344 PMID:22033296 PMID:22461308 PMID:22539353 PMID:23378218 PMID:23533228 PMID:23885230 PMID:24033266 PMID:24862881 PMID:25077900 PMID:25472840 PMID:25741868 PMID:25931334 PMID:26467025 PMID:26538304 PMID:26544072 PMID:26929907 PMID:27884173 PMID:27899157 PMID:28492532 PMID:29255181 PMID:29255276 PMID:29304373 PMID:29419413 PMID:30311386 PMID:31042289 PMID:31965297 PMID:32870266 PMID:34837038 More...
|
|
NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146
|
|
|
G |
FGF8 |
fibroblast growth factor 8 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 6 with or without anosmia |
OMIM ClinVar |
PMID:17360555 PMID:18596921 PMID:20463092 PMID:21045958 PMID:21832120 PMID:22399515 PMID:23533228 PMID:25131394 PMID:25741868 PMID:26467025 PMID:26857713 PMID:26931467 PMID:28492532 PMID:29584859 More...
|
|
NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248
|
|
|
G |
ANOS1 |
anosmin 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:8504298 PMID:11297579 PMID:23643382 PMID:25636053 PMID:28492532 PMID:29758562 More...
|
|
NCBI chr X:5,163,638...5,363,835 NCBI chr Y:3,807,032...4,014,112
|
|
G |
AXL |
AXL receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32870266 |
|
NCBI chr 6:49,245,802...49,277,917
Ensembl chr 6:49,245,673...49,277,914
|
|
G |
BBIP1 |
BBSome interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
|
|
NCBI chr14:121,327,357...121,348,671
Ensembl chr14:121,334,760...121,348,543
|
|
G |
CCDC141 |
coiled-coil domain containing 141 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr15:84,534,725...84,745,296
Ensembl chr15:84,535,922...84,734,182
|
|
G |
DUSP6 |
dual specificity phosphatase 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 5:93,303,058...93,307,510
Ensembl chr 5:93,302,975...93,307,504
|
|
G |
FEZF1 |
FEZ family zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr18:24,881,850...24,884,790
Ensembl chr18:24,879,031...24,884,917
|
|
G |
FGF17 |
fibroblast growth factor 17 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr14:6,310,840...6,315,465
Ensembl chr14:6,309,735...6,315,882
|
|
G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:12627230 PMID:16882753 PMID:17200176 PMID:25636053 PMID:25741868 PMID:28492532 PMID:32853167 PMID:33548149 More...
|
|
NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724
|
|
G |
GNRH1 |
gonadotropin releasing hormone 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19535795 |
|
NCBI chr14:9,442,971...9,447,521
Ensembl chr14:9,442,971...9,453,035
|
|
G |
HS6ST1 |
heparan sulfate 6-O-sulfotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:21700882 PMID:23643382 PMID:24033266 PMID:25636053 PMID:25741868 PMID:27535533 PMID:28492532 More...
|
|
NCBI chr15:59,066,448...59,108,780
Ensembl chr15:59,066,604...59,108,772
|
|
G |
MMUT |
methylmalonyl-CoA mutase |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:16281286 PMID:16490061 PMID:17075691 PMID:17445044 PMID:22727635 PMID:25741868 PMID:26454439 PMID:27233228 PMID:27489777 PMID:28492532 More...
|
|
NCBI chr 7:43,597,313...43,624,603
Ensembl chr 7:43,597,246...43,624,671
|
|
G |
NSMF |
NMDA receptor synaptonuclear signaling and neuronal migration factor |
|
ISO |
DNA:deletion:intron:c.1159-14_-22del (human) |
RGD |
PMID:17235395 |
RGD:11567265 |
|
|
G |
PNPLA6 |
patatin like phospholipase domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:25033069 PMID:25359264 PMID:25741868 PMID:28492532 PMID:34234304 PMID:34445196 PMID:35069422 PMID:35872528 More...
|
|
NCBI chr 2:71,577,165...71,602,756
Ensembl chr 2:71,577,168...71,602,777
|
|
G |
POLR3B |
RNA polymerase III subunit B |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:16199547 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25133958 PMID:25339210 PMID:25741868 PMID:26045207 PMID:26204956 PMID:27029625 PMID:27512013 PMID:28492532 PMID:28589944 PMID:32319736 PMID:32345981 PMID:32870266 PMID:33726816 PMID:34440436 PMID:35316923 More...
|
|
NCBI chr 5:13,805,157...13,926,733
Ensembl chr 5:13,804,930...13,926,604
|
|
G |
PROKR2 |
prokineticin receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:18559922 PMID:24830383 PMID:25636053 PMID:25741868 PMID:26467025 PMID:27899157 PMID:28209183 PMID:28492532 PMID:28754744 PMID:29161432 PMID:31781422 PMID:33587123 PMID:34348883 PMID:36694982 More...
|
|
NCBI chr17:14,243,738...14,257,346
Ensembl chr17:14,242,515...14,257,307
|
|
G |
RNF216 |
ring finger protein 216 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:25558065 |
|
NCBI chr 3:4,158,447...4,329,458
Ensembl chr 3:4,158,450...4,329,378
|
|
G |
SEMA3E |
semaphorin 3E |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 9:96,682,178...96,941,074
Ensembl chr 9:96,682,246...96,941,072
|
|
G |
SPRY4 |
sprouty RTK signaling antagonist 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 2:143,877,334...143,891,280
Ensembl chr 2:143,875,355...143,892,292
|
|
G |
SRA1 |
steroid receptor RNA activator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 2:142,307,009...142,314,613
Ensembl chr 2:142,307,012...142,313,738
|
|
G |
TAC3 |
tachykinin precursor 3 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:25636053 |
|
NCBI chr 5:22,324,927...22,336,464
Ensembl chr 5:22,324,932...22,332,916
|
|
G |
TACR3 |
tachykinin receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:25636053 |
|
NCBI chr 8:117,662,122...117,718,317
Ensembl chr 8:117,662,122...117,721,613
|
|
G |
WDR11 |
WD repeat domain 11 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr14:130,618,924...130,674,536
Ensembl chr14:130,511,592...130,674,774
|
|
|
G |
KISS1R |
KISS1 receptor |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmia |
OMIM ClinVar |
PMID:12788881 PMID:12944565 PMID:14573733 PMID:17164310 PMID:18772143 PMID:20371656 PMID:23349759 PMID:23643382 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31073722 More...
|
|
NCBI chr 2:77,472,361...77,479,204
Ensembl chr 2:77,472,362...77,479,204
|
|
|
G |
NSMF |
NMDA receptor synaptonuclear signaling and neuronal migration factor |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 9 with or without anosmia | ClinVar Annotator: match by term: NSMF-related condition |
OMIM ClinVar |
PMID:15362570 PMID:17235395 PMID:21700882 PMID:25741868 PMID:28492532 |
|
|
|
|
G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
ISO |
DNA:missense mutations, nonsense mutations:exon:multiple DNA:missense mutation, nonsense mutation:exon:p.S107X (320C>A), p.G687R (2059G>A) (human) DNA:frameshift mutation, missense mutations: :multiple |
RGD |
PMID:15845591 PMID:16764984 PMID:16882753 |
RGD:11567239 RGD:11567240 RGD:11567241 |
NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724
|
|
|
G |
CDH1 |
cadherin 1 |
|
ISO |
ClinVar Annotator: match by term: 4h syndrome |
ClinVar |
PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311375 PMID:36436516 More...
|
|
NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
|
|
G |
CHEK2 |
checkpoint kinase 2 |
|
ISO |
ClinVar Annotator: match by term: 4h syndrome |
ClinVar |
PMID:15095295 PMID:21244692 PMID:22114986 PMID:22419737 PMID:22862163 PMID:23552953 PMID:24595525 PMID:25085752 PMID:25186627 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26483394 PMID:26681312 PMID:26787654 PMID:26845104 PMID:27443514 PMID:27621404 PMID:27751358 PMID:27779110 PMID:28008555 PMID:28135145 PMID:28492532 PMID:28495237 PMID:28944238 PMID:29368341 PMID:29520813 PMID:29922827 PMID:29945567 PMID:30128536 PMID:30269267 PMID:30287823 PMID:30303537 PMID:30322717 PMID:30426508 PMID:30613976 PMID:30680046 PMID:30851065 PMID:31050813 PMID:31159747 PMID:31263571 PMID:31341520 PMID:31398194 PMID:31447099 PMID:31784482 PMID:31948886 PMID:32227564 PMID:32658311 PMID:32805687 PMID:32830346 PMID:32881420 PMID:32885271 PMID:32906215 PMID:33030641 PMID:33193653 PMID:33471991 PMID:34072659 PMID:34271781 PMID:34637943 PMID:35128723 PMID:35245693 PMID:35643632 PMID:36136322 PMID:36315097 PMID:37449874 PMID:37628581 More...
|
|
NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290
|
|
G |
POLR3A |
RNA polymerase III subunit A |
|
ISO |
ClinVar Annotator: match by term: 4h syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 | ClinVar Annotator: match by term: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy |
OMIM ClinVar |
PMID:614258 PMID:9536098 PMID:12605447 PMID:16199547 PMID:17159124 PMID:17576681 PMID:20640464 PMID:21855841 PMID:22036171 PMID:22451160 PMID:22819058 PMID:22855961 PMID:23355746 PMID:23694757 PMID:23965854 PMID:25339210 PMID:25741868 PMID:26096995 PMID:26752647 PMID:27029625 PMID:27506977 PMID:27521716 PMID:27535217 PMID:27612211 PMID:27852030 PMID:28447407 PMID:28459997 PMID:28492532 PMID:29451896 PMID:29618326 PMID:29691679 PMID:30323018 PMID:30414627 PMID:30450527 PMID:30847471 PMID:30898877 PMID:31069529 PMID:31438894 PMID:31637490 PMID:31932101 PMID:31940116 PMID:32214227 PMID:32342562 PMID:32373668 PMID:32483275 PMID:32555393 PMID:32582862 PMID:32597037 PMID:32860008 PMID:33134517 PMID:33491183 PMID:33644862 PMID:34284285 PMID:34395528 PMID:34583988 PMID:34589056 PMID:36344503 PMID:37077564 More...
|
|
NCBI chr14:80,410,143...80,471,740
Ensembl chr14:80,413,099...80,471,697
|
|
G |
POLR3B |
RNA polymerase III subunit B |
|
ISO |
ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: Pol III-related leukodystrophy |
ClinVar |
PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25133958 PMID:25339210 PMID:25741868 PMID:26045207 PMID:26204956 PMID:27029625 PMID:27512013 PMID:28492532 PMID:28589944 PMID:32180488 PMID:32319736 PMID:32345981 PMID:32870266 PMID:33726816 PMID:34440436 PMID:35316923 More...
|
|
NCBI chr 5:13,805,157...13,926,733
Ensembl chr 5:13,804,930...13,926,604
|
|
G |
RPS24 |
ribosomal protein S24 |
|
ISO |
ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy |
ClinVar |
PMID:22855961 PMID:25741868 PMID:27029625 |
|
NCBI chr14:80,473,867...80,480,818
Ensembl chr14:80,473,928...80,480,815
|
|
|
G |
NR0B1 |
nuclear receptor subfamily 0 group B member 1 |
|
ISO |
ClinVar Annotator: match by term: Mineralocorticoid deficiency, isolated |
ClinVar |
PMID:17164309 PMID:25741868 PMID:28492532 |
|
NCBI chr X:26,117,874...26,122,951
Ensembl chr X:26,117,874...26,122,951
|
|
|
G |
ANOS1 |
anosmin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr X:5,163,638...5,363,835 NCBI chr Y:3,807,032...4,014,112
|
|
G |
CHD7 |
chromodomain helicase DNA binding protein 7 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadism with anosmia |
ClinVar |
PMID:18414213 PMID:18445044 PMID:21158681 PMID:22461308 PMID:24033266 PMID:25077900 PMID:25741868 PMID:26467025 PMID:28475860 PMID:28492532 PMID:29304373 More...
|
|
NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146
|
|
G |
FGF8 |
fibroblast growth factor 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248
|
|
G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Anosmic hypogonadism | ClinVar Annotator: match by term: Hypogonadism with anosmia |
ClinVar |
PMID:25741868 |
|
NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724
|
|
G |
PNPLA6 |
patatin like phospholipase domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadism with anosmia |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:71,577,165...71,602,756
Ensembl chr 2:71,577,168...71,602,777
|
|
G |
POLR2F |
RNA polymerase II, I and III subunit F |
|
ISO |
ClinVar Annotator: match by term: Hypogonadism with anosmia |
ClinVar |
|
|
NCBI chr 5:9,905,359...9,917,721
Ensembl chr 5:9,855,983...9,917,726
|
|
G |
PROK2 |
prokineticin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr13:53,169,040...53,184,695
Ensembl chr13:53,169,524...53,185,171
|
|
G |
PROKR2 |
prokineticin receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Anosmic hypogonadism |
ClinVar |
PMID:17054399 PMID:18682503 PMID:18826963 PMID:20022991 PMID:22466334 PMID:22745195 PMID:24830383 PMID:25741868 PMID:28492532 PMID:29161432 PMID:31093944 PMID:32870266 More...
|
|
NCBI chr17:14,243,738...14,257,346
Ensembl chr17:14,242,515...14,257,307
|
|
G |
SOX10 |
SRY-box transcription factor 10 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadism with anosmia |
ClinVar |
|
|
NCBI chr 5:9,890,439...9,901,746
Ensembl chr 5:9,891,525...9,901,743
|
|
G |
SRA1 |
steroid receptor RNA activator 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadism with anosmia |
ClinVar |
|
|
NCBI chr 2:142,307,009...142,314,613
Ensembl chr 2:142,307,012...142,313,738
|
|
G |
TCF12 |
transcription factor 12 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadism with anosmia |
ClinVar |
PMID:25741868 PMID:32629054 |
|
NCBI chr 1:114,682,299...115,056,363
Ensembl chr 1:114,682,303...115,056,262
|
|
G |
WDR11 |
WD repeat domain 11 |
|
ISO |
|
MouseDO |
|
|
NCBI chr14:130,618,924...130,674,536
Ensembl chr14:130,511,592...130,674,774
|
|
|
G |
CHD7 |
chromodomain helicase DNA binding protein 7 |
|
ISO |
ClinVar Annotator: match by term: Kallmann syndrome 5 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:18834967 PMID:22461308 PMID:25741868 PMID:28492532 PMID:29419413 PMID:30311386 PMID:34837038 More...
|
|
NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146
|
|
|
G |
FGF8 |
fibroblast growth factor 8 |
|
ISO |
ClinVar Annotator: match by term: Kallmann syndrome 6 |
ClinVar |
PMID:22399515 PMID:23533228 PMID:25131394 PMID:25741868 PMID:26467025 PMID:26857713 PMID:28492532 PMID:29584859 More...
|
|
NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248
|
|
|
G |
ANOS1 |
anosmin 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr X:5,163,638...5,363,835 NCBI chr Y:3,807,032...4,014,112
|
|
G |
CCDC141 |
coiled-coil domain containing 141 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
|
|
NCBI chr15:84,534,725...84,745,296
Ensembl chr15:84,535,922...84,734,182
|
|
G |
CHD7 |
chromodomain helicase DNA binding protein 7 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:15300250 PMID:16155193 PMID:18073582 PMID:20884005 PMID:21158681 PMID:22539353 PMID:25472840 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146
|
|
G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:12627230 PMID:17200176 PMID:25636053 PMID:25741868 PMID:28492532 PMID:32853167 PMID:33548149 More...
|
|
NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724
|
|
G |
HS6ST1 |
heparan sulfate 6-O-sulfotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr15:59,066,448...59,108,780
Ensembl chr15:59,066,604...59,108,772
|
|
G |
KISS1R |
KISS1 receptor |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:77,472,361...77,479,204
Ensembl chr 2:77,472,362...77,479,204
|
|
G |
NHLH2 |
nescient helix-loop-helix 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 PMID:35066646 |
|
NCBI chr 4:104,852,287...104,858,042
Ensembl chr 4:104,857,635...104,858,042
|
|
G |
NLGN3 |
neuroligin 3 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
|
|
NCBI chr X:57,174,506...57,204,770
Ensembl chr X:57,176,103...57,201,461
|
|
G |
PLXNA3 |
plexin A3 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr X:124,982,307...124,997,098
Ensembl chr X:124,983,943...124,997,072
|
|
G |
POLR3B |
RNA polymerase III subunit B |
|
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...
|
|
NCBI chr 5:13,805,157...13,926,733
Ensembl chr 5:13,804,930...13,926,604
|
|
G |
POU6F2 |
POU class 6 homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr18:54,744,833...55,231,628
Ensembl chr18:54,748,790...55,231,511
|
|
G |
PROK2 |
prokineticin 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr13:53,169,040...53,184,695
Ensembl chr13:53,169,524...53,185,171
|
|
G |
SEMA3F |
semaphorin 3F |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr13:32,641,376...32,671,231
Ensembl chr13:32,641,424...32,671,223
|
|
G |
SPRY4 |
sprouty RTK signaling antagonist 4 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:143,877,334...143,891,280
Ensembl chr 2:143,875,355...143,892,292
|
|
G |
TACR3 |
tachykinin receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:117,662,122...117,718,317
Ensembl chr 8:117,662,122...117,721,613
|
|
G |
WDR11 |
WD repeat domain 11 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:20887964 PMID:25741868 PMID:28492532 |
|
NCBI chr14:130,618,924...130,674,536
Ensembl chr14:130,511,592...130,674,774
|
|
|
G |
BPNT1 |
3'(2'), 5'-bisphosphate nucleotidase 1 |
|
ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
|
NCBI chr10:9,659,876...9,684,115
Ensembl chr10:9,659,487...9,683,912
|
|
G |
C10H1orf115 |
chromosome 10 C1orf115 homolog |
|
ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
|
NCBI chr10:10,115,917...10,127,722
Ensembl chr10:10,115,923...10,127,714
|
|
G |
EPRS1 |
glutamyl-prolyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
|
NCBI chr10:9,579,301...9,648,416
Ensembl chr10:9,579,304...9,648,414
|
|
G |
IARS2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
|
NCBI chr10:9,685,641...9,739,816
Ensembl chr10:9,685,678...9,737,159
|
|
G |
LYPLAL1 |
lysophospholipase like 1 |
|
ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
|
NCBI chr10:8,946,463...9,061,033
Ensembl chr10:8,946,487...9,062,412
|
|
G |
MARK1 |
microtubule affinity regulating kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
|
NCBI chr10:9,980,277...10,106,507
Ensembl chr10:9,980,383...10,104,867
|
|
G |
MIR194B |
microRNA mir-194b |
|
ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
|
NCBI chr10:9,704,910...9,704,987
Ensembl chr10:9,704,910...9,704,987
|
|
G |
MTARC1 |
mitochondrial amidoxime reducing component 1 |
|
ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
|
NCBI chr10:10,190,759...10,264,467
Ensembl chr10:10,190,835...10,216,175
|
|
G |
MTARC2 |
mitochondrial amidoxime reducing component 2 |
|
ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
|
NCBI chr10:10,156,732...10,194,371
Ensembl chr10:10,156,728...10,189,924
|
|
G |
RAB3GAP1 |
RAB3 GTPase activating protein catalytic subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:29300443 |
|
NCBI chr15:16,756,368...16,893,148
Ensembl chr15:16,763,990...16,816,754
|
|
G |
RAB3GAP2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Cataract mental retardation hypogonadism | ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16532399 PMID:17576681 PMID:18414213 PMID:23420520 PMID:24033266 PMID:24891604 PMID:25533962 PMID:25741868 PMID:28492532 PMID:29300443 PMID:29419336 PMID:32740904 PMID:32870266 More...
|
|
NCBI chr10:9,734,766...9,828,330
Ensembl chr10:9,734,768...9,828,525
|
|
G |
SLC30A10 |
solute carrier family 30 member 10 |
|
ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
|
NCBI chr10:9,527,523...9,545,493
|
|
G |
TGFB2 |
transforming growth factor beta 2 |
|
ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
|
NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341
|
|
|
G |
ANOS1 |
anosmin 1 |
|
ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:11044805 PMID:15001591 PMID:25077900 PMID:25741868 |
|
NCBI chr X:5,163,638...5,363,835 NCBI chr Y:3,807,032...4,014,112
|
|
G |
ARHGAP35 |
Rho GTPase activating protein 35 |
|
ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:52,711,463...52,841,295
Ensembl chr 6:52,711,901...52,841,288
|
|
G |
ARHGAP5 |
Rho GTPase activating protein 5 |
|
ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:67,494,237...67,631,461
Ensembl chr 7:67,494,941...67,594,197
|
|
G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724
|
|
G |
IGSF10 |
immunoglobulin superfamily member 10 |
|
ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr13:91,625,421...91,679,494
Ensembl chr13:91,625,431...91,679,079
|
|
G |
KLB |
klotho beta |
|
ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:30,653,434...30,696,123
Ensembl chr 8:30,653,572...30,691,349
|
|
G |
RAB3GAP2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
OMIM ClinVar |
PMID:16532399 PMID:23420520 PMID:24891604 PMID:25741868 PMID:28492532 PMID:29300443 PMID:32740904 More...
|
|
NCBI chr10:9,734,766...9,828,330
Ensembl chr10:9,734,768...9,828,525
|
|
G |
SEMA3A |
semaphorin 3A |
|
ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:22927827 PMID:25741868 |
|
NCBI chr 9:95,934,937...96,387,950
Ensembl chr 9:96,181,770...96,387,950
|
|
|
G |
RAB3GAP1 |
RAB3 GTPase activating protein catalytic subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Martsolf syndrome 2 |
OMIM ClinVar |
PMID:23420520 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29300443 PMID:30730599 PMID:33306828 More...
|
|
NCBI chr15:16,756,368...16,893,148
Ensembl chr15:16,763,990...16,816,754
|
|
|
G |
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:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8810912 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:9745866 PMID:9916932 PMID:10470095 PMID:10505700 PMID:10603123 PMID:10762296 PMID:11182928 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:21499692 PMID:21508141 PMID:22099579 PMID:22172722 PMID:23295293 PMID:23325811 PMID:23497137 PMID:23515051 PMID:23562652 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25501161 PMID:25741868 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26248470 PMID:26358501 PMID:26467025 PMID:26725263 PMID:27013732 PMID:27300205 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29474669 PMID:30406062 PMID:30963316 PMID:31937884 PMID:32352694 PMID:32581362 PMID:32604935 PMID:34490048 PMID:38054408 More...
|
|
NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997
|
|
|
G |
EIF2S3 |
eukaryotic translation initiation factor 2 subunit gamma |
|
ISO |
ClinVar Annotator: match by term: MEHMO syndrome |
OMIM ClinVar |
PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 |
|
NCBI chr X:20,129,708...20,162,881
Ensembl chr X:20,146,933...20,162,702
|
|
|
G |
PPP2R3C |
protein phosphatase 2 regulatory subunit B''gamma |
|
ISO |
ClinVar Annotator: match by term: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME | ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy |
OMIM ClinVar |
PMID:8849014 PMID:25741868 PMID:30893644 PMID:34714774 PMID:34750818 PMID:35812758 More...
|
|
NCBI chr 7:64,762,863...64,789,919
Ensembl chr 7:64,763,050...64,789,921
|
|
G |
PRORP |
protein only RNase P catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:64,620,514...64,763,272
Ensembl chr 7:64,620,517...64,762,428
|
|
|
G |
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 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683
|
|
|
G |
ZSWIM7 |
zinc finger SWIM-type containing 7 |
|
ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 10 |
OMIM ClinVar |
PMID:25741868 PMID:32719396 PMID:33713115 PMID:34402903 |
|
NCBI chr12:59,418,905...59,434,689
Ensembl chr12:59,418,924...59,436,604
|
|
|
G |
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:44,613,122...44,620,575
Ensembl chr X:44,613,122...44,620,575
|
|
|
G |
MLX |
MAX dimerization protein MLX |
|
ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 3 |
ClinVar |
PMID:31042289 |
|
NCBI chr12:20,249,760...20,257,543
Ensembl chr12:20,249,761...20,257,526
|
|
G |
NRXN1 |
neurexin 1 |
|
ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:89,799,426...90,914,205
Ensembl chr 3:89,803,519...90,382,034
|
|
G |
PSMC3IP |
PSMC3 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 3 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31042289 |
|
NCBI chr12:20,244,243...20,250,151
Ensembl chr12:20,244,304...20,250,159
|
|
|
G |
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:28492532 PMID:31042289 |
|
NCBI chr 1:43,171,906...43,268,533
|
|
|
G |
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 |
|
|
|
|
G |
NUP107 |
nucleoporin 107 |
|
ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 6 |
OMIM ClinVar |
PMID:25741868 PMID:26485283 PMID:28492532 |
|
NCBI chr 5:32,989,661...33,040,565
Ensembl chr 5:32,989,794...33,042,575
|
|
|
G |
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 chr13:80,006,656...80,232,107
Ensembl chr13:79,981,796...80,232,773
|
|
|
G |
ESR2 |
estrogen receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 8 |
OMIM ClinVar |
PMID:30113650 |
|
NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565
|
|
|
G |
SPIDR |
scaffold protein involved in DNA repair |
|
ISO |
ClinVar Annotator: match by term: Ovarian dysgenesis 9 |
OMIM ClinVar |
PMID:25741868 PMID:27967308 PMID:34697795 |
|
NCBI chr 4:79,874,937...80,190,744
Ensembl chr 4:79,874,831...80,190,655
|
|
|
G |
RSPO1 |
R-spondin 1 |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar hyperkeratosis and true hermaphroditism |
ClinVar |
PMID:18085567 |
|
NCBI chr 6:93,664,839...93,690,328
Ensembl chr 6:93,665,121...93,685,197
|
|
|
G |
RSPO1 |
R-spondin 1 |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal |
OMIM ClinVar |
PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532 |
|
NCBI chr 6:93,664,839...93,690,328
Ensembl chr 6:93,665,121...93,685,197
|
|
|
G |
CLPP |
caseinolytic mitochondrial matrix peptidase proteolytic subunit |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome |
ClinVar |
PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24824130 |
|
NCBI chr 2:72,707,363...72,713,481
Ensembl chr 2:72,707,158...72,713,475
|
|
G |
ERAL1 |
Era like 12S mitochondrial rRNA chaperone 1 |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome |
ClinVar |
PMID:28449065 |
|
NCBI chr12:45,082,931...45,091,278
Ensembl chr12:45,083,003...45,088,673
|
|
G |
HARS2 |
histidyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome |
ClinVar |
PMID:517579 PMID:21464306 |
|
NCBI chr 2:142,401,279...142,410,253
Ensembl chr 2:142,401,328...142,409,619
|
|
G |
HSD17B4 |
hydroxysteroid 17-beta dehydrogenase 4 |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome |
ClinVar |
PMID:4061497 PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:11810648 PMID:15216544 PMID:16385454 PMID:20673864 PMID:22864515 PMID:23181892 PMID:24033266 PMID:24108619 PMID:25741868 PMID:25967389 PMID:26243799 PMID:26970254 PMID:27790638 PMID:28017249 PMID:28492532 PMID:28708278 PMID:28830375 PMID:31455392 More...
|
|
NCBI chr 2:123,313,445...123,401,386
Ensembl chr 2:123,313,448...123,402,709
|
|
G |
LARS2 |
leucyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome |
ClinVar |
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 PMID:26970254 PMID:27650058 PMID:28492532 PMID:28832386 PMID:29205794 PMID:30311386 PMID:30737337 PMID:32747562 PMID:32767731 PMID:34997062 More...
|
|
NCBI chr13:28,524,778...28,692,327
Ensembl chr13:28,524,796...28,692,327
|
|
G |
TWNK |
twinkle mtDNA helicase |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome |
ClinVar |
PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:26970254 PMID:27551684 PMID:27650058 PMID:28178980 PMID:28492532 PMID:29458409 PMID:30799093 PMID:31055809 PMID:31455392 PMID:31852434 PMID:32234020 PMID:32281099 PMID:32619254 PMID:33095980 PMID:35035228 More...
|
|
NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792
|
|
|
G |
CLPP |
caseinolytic mitochondrial matrix peptidase proteolytic subunit |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome 1 |
ClinVar |
PMID:30311386 |
|
NCBI chr 2:72,707,363...72,713,481
Ensembl chr 2:72,707,158...72,713,475
|
|
G |
FBN1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
|
|
G |
FSHR |
follicle stimulating hormone receptor |
|
ISO |
ClinVar Annotator: match by term: Gonadal dysgenesis XX type deafness |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683
|
|
G |
HSD17B4 |
hydroxysteroid 17-beta dehydrogenase 4 |
|
ISO |
ClinVar Annotator: match by term: HSD17B4-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Perrault syndrome 1 |
OMIM ClinVar |
PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 PMID:10497229 PMID:11810648 PMID:15216544 PMID:16385454 PMID:17576681 PMID:20673864 PMID:22864515 PMID:23181892 PMID:23308274 PMID:23332201 PMID:24033266 PMID:24108619 PMID:24553428 PMID:25741868 PMID:25741913 PMID:25741915 PMID:25741916 PMID:25967389 PMID:26243799 PMID:26467025 PMID:26970254 PMID:27124789 PMID:27528516 PMID:27790638 PMID:28017249 PMID:28492532 PMID:28649525 PMID:28708278 PMID:28830375 PMID:28973083 PMID:30396834 PMID:30561787 PMID:31230720 PMID:31455392 PMID:32747562 PMID:32904102 PMID:33539324 PMID:34645488 PMID:34719423 PMID:34732400 PMID:34906502 More...
|
|
NCBI chr 2:123,313,445...123,401,386
Ensembl chr 2:123,313,448...123,402,709
|
|
G |
PRORP |
protein only RNase P catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome 1 |
ClinVar |
PMID:34715011 |
|
NCBI chr 7:64,620,514...64,763,272
Ensembl chr 7:64,620,517...64,762,428
|
|
|
G |
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 PMID:31827252 PMID:34416374 More...
|
|
NCBI chr 2:142,401,279...142,410,253
Ensembl chr 2:142,401,328...142,409,619
|
|
|
G |
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 PMID:28492532 More...
|
|
NCBI chr 2:72,707,363...72,713,481
Ensembl chr 2:72,707,158...72,713,475
|
|
|
G |
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:28000701 PMID:28492532 PMID:28708303 PMID:28832386 PMID:29205794 PMID:30311386 PMID:30737337 PMID:32399598 PMID:32442335 PMID:32747562 More...
|
|
NCBI chr13:28,524,778...28,692,327
Ensembl chr13:28,524,796...28,692,327
|
|
|
G |
TWNK |
twinkle mtDNA helicase |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome 5 |
OMIM ClinVar |
PMID:25355836 PMID:25741868 PMID:27551684 PMID:27650058 PMID:28178980 PMID:28492532 PMID:29302074 PMID:31055809 PMID:31455392 PMID:31823625 PMID:32234020 PMID:32281099 PMID:32619254 PMID:33095980 PMID:33486010 PMID:35035228 More...
|
|
NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792
|
|
|
G |
ERAL1 |
Era like 12S mitochondrial rRNA chaperone 1 |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome 6 |
OMIM ClinVar |
PMID:25741868 PMID:28449065 |
|
NCBI chr12:45,082,931...45,091,278
Ensembl chr12:45,083,003...45,088,673
|
|
|
G |
CYP19A3 |
cytochrome P450 19A3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8265607 |
|
NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899
|
|
|
G |
AKAP14 |
A-kinase anchoring protein 14 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:98,234,469...98,255,396
|
|
G |
ATP1B4 |
ATPase Na+/K+ transporting family member beta 4 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:98,514,286...98,535,154
Ensembl chr X:98,514,305...98,535,149
|
|
G |
C1GALT1C1 |
C1GALT1 specific chaperone 1 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:98,752,711...98,758,428
|
|
G |
CUL4B |
cullin 4B |
|
ISO |
ClinVar Annotator: match by term: CABEZAS SYNDROME | ClinVar Annotator: match by term: CUL4B-Related Disorder | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 | ClinVar Annotator: match by term: Mental retardation with short stature, hypogonadism and abnormal gait, X-linked |
OMIM ClinVar |
PMID:8135271 PMID:9536098 PMID:10978355 PMID:17236139 PMID:17273978 PMID:17576681 PMID:18414213 PMID:25385192 PMID:25741868 PMID:26467025 PMID:28330790 PMID:28492532 PMID:28817236 More...
|
|
NCBI chr X:98,668,945...98,730,582
Ensembl chr X:98,668,953...98,730,565
|
|
G |
DOCK11 |
dedicator of cytokinesis 11 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:97,068,488...97,267,528
Ensembl chr X:97,068,355...97,267,517
|
|
G |
IL13RA1 |
interleukin 13 receptor subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:97,300,960...97,353,754
Ensembl chr X:97,300,466...97,356,133
|
|
G |
KIAA1210 |
KIAA1210 ortholog |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:97,581,400...97,651,765
|
|
G |
LAMP2 |
lysosomal associated membrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:98,586,718...98,623,939
Ensembl chr X:98,556,710...98,623,940
|
|
G |
LOC100738684 |
malignant T-cell-amplified sequence 1 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr10:65,704,921...65,705,734
|
|
G |
LOC102157657 |
uncharacterized LOC102157657 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:98,304,777...98,310,448
|
|
G |
LONRF3 |
LON peptidase N-terminal domain and ring finger 3 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:97,494,305...97,547,813
Ensembl chr X:97,494,328...97,534,185
|
|
G |
NDUFA1 |
NADH:ubiquinone oxidoreductase subunit A1 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:98,219,717...98,223,873
Ensembl chr X:98,219,988...98,223,868
|
|
G |
NKAP |
NFKB activating protein |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:98,233,504...98,276,839
Ensembl chr X:98,256,632...98,276,773
|
|
G |
NKRF |
NFKB repressing factor |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:98,008,870...98,025,423
Ensembl chr X:98,007,910...98,025,373
|
|
G |
PGRMC1 |
progesterone receptor membrane component 1 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:97,735,402...97,743,424
Ensembl chr X:97,735,244...97,743,423
|
|
G |
RNF113A |
ring finger protein 113A |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:98,218,689...98,219,931
Ensembl chr X:98,218,565...98,219,773
|
|
G |
RPL39 |
ribosomal protein L39 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:98,178,148...98,181,439
Ensembl chr X:98,178,150...98,181,332
|
|
G |
SEPTIN6 |
septin 6 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:98,033,212...98,106,082
Ensembl chr X:98,031,890...98,161,607
|
|
G |
SLC25A43 |
solute carrier family 25 member 43 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:97,868,804...97,906,771
Ensembl chr X:97,868,696...97,906,760
|
|
G |
SLC25A5 |
solute carrier family 25 member 5 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:97,919,295...97,922,245
Ensembl chr X:97,919,290...97,922,239
|
|
G |
SOWAHD |
sosondowah ankyrin repeat domain family member D |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:98,154,437...98,158,808
Ensembl chr X:98,156,970...98,158,807
|
|
G |
STEEP1 |
STING1 ER exit protein 1 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:97,974,596...97,986,281
Ensembl chr X:97,974,604...97,986,278
|
|
G |
TMEM255A |
transmembrane protein 255A |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:98,412,286...98,464,683
Ensembl chr X:98,413,949...98,464,660
|
|
G |
UBE2A |
ubiquitin conjugating enzyme E2 A |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:97,925,136...98,007,551
Ensembl chr X:97,925,131...98,012,278
|
|
G |
UPF3B |
UPF3B regulator of nonsense mediated mRNA decay |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:98,184,646...98,206,135
Ensembl chr X:98,182,272...98,206,096
|
|
G |
ZBTB33 |
zinc finger and BTB domain containing 33 |
|
ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:25385192 PMID:28492532 |
|
NCBI chr X:98,370,137...98,413,686
Ensembl chr X:98,405,319...98,414,279
|
|
|
G |
CAT |
catalase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25101153 |
|
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
|
|
G |
IGF1 |
insulin like growth factor 1 |
|
ISO |
protein:decreased activity:serum: |
RGD |
PMID:17067837 |
RGD:12743588 |
NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
|
|
G |
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 chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690
|
|
G |
NOS2 |
nitric oxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25101153 |
|
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
|
|
G |
PTCH1 |
patched 1 |
|
ISO |
ClinVar Annotator: match by term: Turner syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223
|
|
G |
SOD1 |
superoxide dismutase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25101153 |
|
NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
|
|
G |
SOD2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25101153 |
|
NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
|
|
G |
VDR |
vitamin D receptor |
susceptibility |
ISO |
DNA:SNP: :rs7975232(human) |
RGD |
PMID:21823528 |
RGD:13432073 |
NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
|
|
|
G |
RAB18 |
RAB18, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Warburg micro syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:38,970,381...39,004,975
Ensembl chr10:38,970,586...39,004,971
|
|
G |
RAB3GAP1 |
RAB3 GTPase activating protein catalytic subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Warburg micro syndrome |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:35196747 |
|
NCBI chr15:16,756,368...16,893,148
Ensembl chr15:16,763,990...16,816,754
|
|
G |
RAB3GAP2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Warburg micro syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:9,734,766...9,828,330
Ensembl chr10:9,734,768...9,828,525
|
|
G |
TBC1D20 |
TBC1 domain family member 20 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr17:34,760,379...34,778,301
Ensembl chr17:34,760,347...34,779,701
|
|
|
G |
RAB3GAP1 |
RAB3 GTPase activating protein catalytic subunit 1 |
|
ISO |
ClinVar Annotator: match by term: RAB3GAP1-related condition | ClinVar Annotator: match by term: Warburg micro syndrome 1 |
OMIM ClinVar |
PMID:8249951 PMID:9536098 PMID:15216543 PMID:15696165 PMID:16199547 PMID:17351351 PMID:17576681 PMID:18286824 PMID:18414213 PMID:20512159 PMID:20584031 PMID:23176487 PMID:23420520 PMID:25326635 PMID:25741868 PMID:25741915 PMID:25741916 PMID:26138576 PMID:26421802 PMID:26467025 PMID:26852512 PMID:28454995 PMID:28492532 PMID:29300443 PMID:29878067 PMID:30202406 PMID:31319225 PMID:32740904 PMID:32870266 More...
|
|
NCBI chr15:16,756,368...16,893,148
Ensembl chr15:16,763,990...16,816,754
|
|
|
G |
RAB3GAP2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
|
ISO |
ClinVar Annotator: match by term: MICRO SYNDROME 2 | ClinVar Annotator: match by term: Warburg micro syndrome 2 |
OMIM ClinVar |
PMID:16199547 PMID:20967465 PMID:23420520 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29300443 PMID:32740904 PMID:32870266 More...
|
|
NCBI chr10:9,734,766...9,828,330
Ensembl chr10:9,734,768...9,828,525
|
|
|
G |
RAB18 |
RAB18, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Warburg micro syndrome 3 |
OMIM ClinVar |
PMID:21473985 PMID:23420520 PMID:25741868 PMID:28492532 PMID:29300443 |
|
NCBI chr10:38,970,381...39,004,975
Ensembl chr10:38,970,586...39,004,971
|
|
|
G |
TBC1D20 |
TBC1 domain family member 20 |
|
ISO |
ClinVar Annotator: match by term: Warburg micro syndrome 4 |
OMIM ClinVar |
PMID:24239381 PMID:25741868 PMID:32740904 |
|
NCBI chr17:34,760,379...34,778,301
Ensembl chr17:34,760,347...34,779,701
|
|
|
G |
DCAF17 |
DDB1 and CUL4 associated factor 17 |
|
ISO |
ClinVar Annotator: match by term: Woodhouse-Sakati syndrome |
OMIM ClinVar |
PMID:6876115 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17710875 PMID:18049083 PMID:18175354 PMID:18414213 PMID:19026396 PMID:20507343 PMID:21044051 PMID:21964978 PMID:24015686 PMID:24088041 PMID:25326637 PMID:25741868 PMID:25741913 PMID:25741916 PMID:26612766 PMID:26633545 PMID:26664771 PMID:27489925 PMID:28492532 PMID:29178422 PMID:29546359 PMID:31323129 PMID:31347785 PMID:35876063 More...
|
|
NCBI chr15:77,564,629...77,603,913
Ensembl chr15:77,564,646...77,603,620
|
|
G |
METTL8 |
methyltransferase 8, tRNA N3-cytidine |
|
ISO |
ClinVar Annotator: match by term: Woodhouse-Sakati syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17710875 PMID:19026396 PMID:20507343 PMID:25741868 PMID:26612766 PMID:28492532 PMID:31323129 More...
|
|
NCBI chr15:77,477,229...77,564,492
Ensembl chr15:77,477,231...77,525,714
|
|
|
G |
ATRX |
ATRX chromatin remodeler |
|
ISO |
ClinVar Annotator: match by term: Carpenter-Waziri syndrome | ClinVar Annotator: match by term: HOLMES-GANG SYNDROME | ClinVar Annotator: match by term: Intellectual disability-hypotonic facies syndrome, X-linked | ClinVar Annotator: match by term: Mental retardation-hypotonic facies syndrome X-linked, 1 | ClinVar Annotator: match by term: Smith Fineman Myers syndrome 1 |
OMIM ClinVar |
PMID:3239563 PMID:6682021 PMID:6711605 PMID:7697714 PMID:8630485 PMID:8968741 PMID:9244431 PMID:9326931 PMID:10398234 PMID:10398237 PMID:10632111 PMID:10995512 PMID:11050622 PMID:12116232 PMID:15508018 PMID:15591283 PMID:16125058 PMID:16813605 PMID:16955409 PMID:18409179 PMID:18414213 PMID:20500465 PMID:21267006 PMID:23681356 PMID:24289169 PMID:24327140 PMID:24690944 PMID:24728327 PMID:24805811 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25741868 PMID:25936994 PMID:26350204 PMID:26467025 PMID:28027854 PMID:28293299 PMID:28371217 PMID:28492532 PMID:29706636 PMID:31130284 PMID:32595695 PMID:32712949 PMID:35709690 PMID:36292677 More...
|
|
NCBI chr X:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287
|
|
G |
EPOR |
erythropoietin receptor |
|
ISO |
ClinVar Annotator: match by term: Carpenter-Waziri syndrome |
ClinVar |
PMID:8174675 PMID:9394420 PMID:25741868 PMID:28492532 |
|
NCBI chr 2:70,063,601...70,068,821
Ensembl chr 2:70,063,519...70,068,821
|
|
G |
HUWE1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter-Waziri syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr X:46,281,958...46,444,315
Ensembl chr X:46,281,967...46,444,228
|
|