|
G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
|
|
NCBI chr X:151,428,334...151,450,115
|
|
G |
Arhgap4 |
Rho GTPase activating protein 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
|
|
NCBI chr X:151,636,071...151,651,528
|
|
G |
Avpr2 |
arginine vasopressin receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
|
|
NCBI chr X:156,785,009...156,787,477
|
|
G |
Bcap31 |
B-cell receptor-associated protein 31 |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
|
|
NCBI chr X:151,397,567...151,429,666
|
|
G |
Hcfc1 |
host cell factor C1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
|
|
NCBI chr X:156,839,100...156,864,132
|
|
G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
|
|
NCBI chr X:156,666,573...156,675,482
|
|
G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
|
|
NCBI chr X:156,919,927...156,929,825
|
|
G |
L1cam |
L1 cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
|
|
NCBI chr X:151,597,270...151,623,776
|
|
G |
Mecp2 |
methyl CpG binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
|
|
NCBI chr X:156,932,481...156,995,981
|
|
G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
|
|
NCBI chr X:156,807,378...156,812,632
|
|
G |
Opn1mw |
opsin 1, medium wave sensitive |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
|
|
NCBI chr X:157,056,355...157,076,716
|
|
G |
Pdzd4 |
PDZ domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
|
|
NCBI chr X:151,530,390...151,560,779
|
|
G |
Plxnb3 |
plexin B3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
|
|
NCBI chr X:156,645,505...156,660,011
|
|
G |
Pnck |
pregnancy up-regulated nonubiquitous CaM kinase |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
|
|
NCBI chr X:156,520,751...156,524,828
|
|
G |
Renbp |
renin binding protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
|
|
NCBI chr X:156,812,785...156,821,860
|
|
G |
Slc6a8 |
solute carrier family 6 member 8 |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
|
|
NCBI chr X:151,384,675...151,393,979
|
|
G |
Srpk3 |
SRSF protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
|
|
NCBI chr X:156,661,888...156,666,537
|
|
G |
Ssr4 |
signal sequence receptor subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
|
|
NCBI chr X:151,524,191...151,528,218
|
|
G |
Tex28 |
testis expressed 28 |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
|
|
NCBI chr X:157,076,824...157,110,988
|
|
G |
Tktl1 |
transketolase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome |
ClinVar |
|
|
NCBI chr X:157,105,455...157,138,510
|
|
|
G |
Adgb |
androglobin |
|
ISO |
ClinVar Annotator: match by term: Fragile X syndrome |
ClinVar |
|
|
NCBI chr 1:4,753,621...4,896,268
|
|
G |
Aff2 |
ALF transcription elongation factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr X:147,928,130...148,432,484
|
|
G |
App |
amyloid beta precursor protein |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:22046307 |
|
NCBI chr11:37,506,207...37,724,351
|
|
G |
Cyfip1 |
cytoplasmic FMR1 interacting protein 1 |
|
ISO |
|
RGD |
PMID:22900020 |
RGD:11558008 |
NCBI chr 1:115,842,754...115,935,163
|
|
G |
Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
|
ISO |
|
RGD |
PMID:24352881 |
RGD:10401097 |
NCBI chr16:7,771,311...7,841,895
|
|
G |
Fmr1 |
fragile X messenger ribonucleoprotein 1 |
|
ISO IMP ISS |
DNA:trinucleotide expansion ClinVar Annotator: match by term: Fragile X syndrome OMIM:300624 compared to SD control;DNA:deletion:intron 7, exon 8: CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:7530551 PMID:7633450 PMID:7670500 PMID:8156595 PMID:8490650 PMID:9659908 PMID:11445641 PMID:15028757 PMID:15805463 PMID:16043816 PMID:16510718 PMID:17065172 PMID:18664458 PMID:18835858 PMID:20300527 PMID:21267007 PMID:21516088 PMID:22043169 PMID:25171808 PMID:25741868 PMID:28176767 PMID:28616095 PMID:33181255 PMID:35091116 PMID:35641906 PMID:35857264 PMID:36250920 PMID:1675488 PMID:36536454 PMID:30877790 PMID:27465362 PMID:28894415 PMID:24713347 PMID:12032354 More...
|
RGD:1601178, RGD:401976434, RGD:38548928, RGD:38548926, RGD:38501107, RGD:11566052, RGD:11566028 |
NCBI chr X:147,240,239...147,278,057
|
|
G |
Fmr1em1Mzhe |
FMRP translational regulator 1; CRISPR/Cas9 induced mutant1, Mzhe |
|
IMP |
|
RGD |
PMID:28894415 |
RGD:38501107 |
|
|
G |
Fmr1em1Sage |
FMRP translational regulator 1; zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs |
|
IMP |
DNA:deletion:intron 7, exon 8: compared to SD control;DNA:deletion:intron 7, exon 8: |
RGD |
PMID:27465362 PMID:36536454 PMID:30877790 |
RGD:38548926, RGD:401976434, RGD:38548928 |
|
|
G |
Grm1 |
glutamate metabotropic receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Fragile X syndrome |
ClinVar |
|
|
NCBI chr 1:5,058,285...5,453,170
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
treatment |
ISO |
protein:increased expression:brain |
RGD |
PMID:25466251 PMID:26850918 |
RGD:13204755, RGD:11572344 |
NCBI chr 3:174,103,474...174,111,434
|
|
G |
Nrxn3 |
neurexin 3 |
|
ISO |
mRNA:decreased expression:hippocampus,somatosendory cortex |
RGD |
PMID:26235839 |
RGD:11554325 |
NCBI chr 6:107,641,760...109,272,849
|
|
G |
Rab32 |
RAB32, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Fragile X syndrome |
ClinVar |
|
|
NCBI chr 1:4,946,193...4,961,003
|
|
|
G |
Fmr1 |
fragile X messenger ribonucleoprotein 1 |
|
ISO ISS |
ClinVar Annotator: match by term: Fragile X tremor/ataxia syndrome | ClinVar Annotator: match by term: Fragile X-associated tremor/ataxia syndrome OMIM:300623 human gene in a mouse model CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD RGD |
PMID:25741868 PMID:27385396 PMID:15876460 |
RGD:12050151 |
NCBI chr X:147,240,239...147,278,057
|
|
G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
mRNA:increased expression:prefrontal cortex, brain stem (mouse) |
RGD |
PMID:24418349 |
RGD:8655858 |
NCBI chr11:42,942,742...42,948,399
|
|
|
G |
Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: OFDS VI | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar Annotator: match by term: Varadi-Papp syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20301500 PMID:22425360 PMID:22693042 PMID:23523602 PMID:24091540 PMID:24178751 PMID:25407461 PMID:25533962 PMID:25558065 PMID:25741868 PMID:25846457 PMID:25920555 PMID:26092869 PMID:27081551 PMID:27158779 PMID:27434533 PMID:28125082 PMID:28289185 PMID:28431631 PMID:28454995 PMID:28492532 PMID:28771248 PMID:28976722 PMID:29146704 PMID:29321670 PMID:29605658 PMID:29955609 PMID:30408610 PMID:30919572 PMID:31130284 PMID:31158925 PMID:31216405 PMID:31980526 PMID:32037395 PMID:32233090 PMID:33176815 PMID:33774617 PMID:34008892 PMID:34091942 PMID:35582950 PMID:36305856 PMID:38003592 More...
|
|
NCBI chr 2:58,996,119...59,096,817
|
|
|
G |
Esco2 |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Juberg-Hayward syndrome | ClinVar Annotator: match by term: Orocraniodigital syndrome |
OMIM ClinVar |
PMID:18414213 PMID:20301332 PMID:25741868 PMID:28492532 PMID:32255174 PMID:32977150 More...
|
|
NCBI chr15:44,210,124...44,230,785
|
|
G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Juberg-Hayward syndrome ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Orocraniodigital syndrome |
ClinVar |
PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 PMID:11532987 PMID:11704759 PMID:11992261 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15523633 PMID:15689435 PMID:15917206 PMID:16080119 PMID:16299064 PMID:16417552 PMID:16538226 PMID:16596676 PMID:16822260 PMID:16835913 PMID:16875750 PMID:17264970 PMID:17431908 PMID:17576681 PMID:17632775 PMID:18414213 PMID:18805826 PMID:19377476 PMID:19773341 PMID:20186808 PMID:20301567 PMID:20598277 PMID:20844545 PMID:20979190 PMID:21620354 PMID:21836662 PMID:21960593 PMID:22465605 PMID:22522697 PMID:25167861 PMID:25326637 PMID:25649377 PMID:25741868 PMID:26404489 PMID:26467025 PMID:27193221 PMID:28133863 PMID:28454995 PMID:28492532 PMID:28798025 PMID:29334594 PMID:30029678 PMID:30089473 PMID:30143558 PMID:30293987 PMID:30675029 PMID:30712057 PMID:30755392 PMID:30986657 PMID:31064749 PMID:31069529 PMID:31625567 PMID:31942422 PMID:32410215 PMID:32738303 PMID:33077954 PMID:33448881 PMID:34858435 PMID:35000503 PMID:36110220 PMID:36734119 PMID:37175682 More...
|
|
NCBI chr X:157,159,051...157,185,559
|
|
G |
Hcfc1 |
host cell factor C1 |
|
ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
|
NCBI chr X:156,839,100...156,864,132
|
|
G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
|
NCBI chr X:156,919,927...156,929,825
|
|
G |
Mecp2 |
methyl CpG binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
|
NCBI chr X:156,932,481...156,995,981
|
|
G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
|
NCBI chr X:156,807,378...156,812,632
|
|
G |
Opn1mw |
opsin 1, medium wave sensitive |
|
ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
|
NCBI chr X:157,056,355...157,076,716
|
|
G |
Renbp |
renin binding protein |
|
ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
|
NCBI chr X:156,812,785...156,821,860
|
|
G |
Tex28 |
testis expressed 28 |
|
ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
|
NCBI chr X:157,076,824...157,110,988
|
|
G |
Tktl1 |
transketolase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Cranio-oro-digital syndrome |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
|
NCBI chr X:157,105,455...157,138,510
|
|
|
G |
Ccdc141 |
coiled-coil domain containing 141 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
|
|
NCBI chr 3:61,948,614...62,109,968
|
|
G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr16:73,194,631...73,249,855
|
|
G |
Gnrhr |
gonadotropin releasing hormone receptor |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:7557974 PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 PMID:10690855 PMID:10999776 PMID:11397842 PMID:11397871 PMID:12057744 PMID:12364481 PMID:12574221 PMID:12679486 PMID:15728205 PMID:16968799 PMID:17235395 PMID:20389088 PMID:20696889 PMID:21292259 PMID:21645587 PMID:21664240 PMID:22724017 PMID:22745237 PMID:23155690 PMID:23643382 PMID:23650335 PMID:24732674 PMID:25016926 PMID:25077900 PMID:25741868 PMID:26207952 PMID:26467025 PMID:26792935 PMID:28348023 PMID:28492532 PMID:28611058 PMID:29182666 PMID:30476149 PMID:32870266 PMID:33223529 PMID:33968656 PMID:34403359 PMID:36407308 More...
|
|
NCBI chr14:21,856,871...21,874,861
|
|
G |
Kiss1r |
KISS1 receptor |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:14573733 PMID:23349759 PMID:25741868 PMID:28492532 PMID:31073722 |
|
NCBI chr 7:9,785,135...9,790,283
|
|
G |
Nhlh2 |
nescient helix loop helix 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 PMID:35066646 |
|
NCBI chr 2:189,444,287...189,449,625
|
|
G |
Nlgn3 |
neuroligin 3 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
|
|
NCBI chr X:66,427,926...66,457,378
|
|
G |
Plxna3 |
plexin A3 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr X:152,115,699...152,131,608
|
|
G |
Polr2f |
RNA polymerase II, I and III subunit F |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:110,712,528...110,724,234
|
|
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 PMID:35253369 More...
|
|
NCBI chr 7:19,039,179...19,142,450
|
|
G |
Pou6f2 |
POU class 6 homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr17:46,472,182...46,886,796
|
|
G |
Prok2 |
prokineticin 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:132,346,681...132,361,754
|
|
G |
Prokr2 |
prokineticin receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:16537498 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18723471 PMID:18826963 PMID:20022991 PMID:20696889 PMID:21209029 PMID:21247312 PMID:22035731 PMID:22466334 PMID:22773735 PMID:23386640 PMID:23643382 PMID:24031091 PMID:24276467 PMID:24830383 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29161432 More...
|
|
NCBI chr 3:119,624,738...119,639,442
|
|
G |
Sema3f |
semaphorin 3F |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:117,236,269...117,265,206
|
|
G |
Sox10 |
SRY-box transcription factor 10 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:110,725,274...110,734,651
|
|
G |
Sox11 |
SRY-box transcription factor 11 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:44,008,333...44,010,354
|
|
G |
Tacr3 |
tachykinin receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:223,266,536...223,363,791
|
|
G |
Wfdc17 |
WAP four-disulfide core domain 17 |
|
ISO |
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism |
ClinVar |
PMID:8504298 PMID:11297579 PMID:16199547 PMID:25741868 PMID:28492532 PMID:28915117 PMID:36268624 PMID:36917044 More...
|
|
NCBI chr10:68,561,954...68,562,801
|
|
|
G |
C2cd3 |
C2 domain containing 3 centriole elongation regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24997988 |
|
NCBI chr 1:164,127,304...164,225,088
|
|
G |
Cfap184 |
cilia and flagella associated protein 184 |
|
ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome |
ClinVar |
|
|
NCBI chr14:74,276,568...74,279,072
|
|
G |
Ttc23 |
tetratricopeptide repeat domain 23 |
|
ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome |
ClinVar |
|
|
NCBI chr 1:121,245,996...121,329,500
|
|
G |
Wdpcp |
WD repeat containing planar cell polarity effector |
|
ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome | ClinVar Annotator: match by term: Orofaciodigital syndromes |
ClinVar |
PMID:9536098 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 PMID:25741868 PMID:27158779 PMID:28289185 PMID:28492532 PMID:33046855 More...
|
|
NCBI chr14:99,847,463...100,178,392
|
|
|
G |
Ofd1 |
Ofd1 centriole and centriolar satellite protein |
|
ISO ISS |
ClinVar Annotator: match by term: Oral-Facial-Digital Syndrome Type I | ClinVar Annotator: match by term: Oral-facial-digital syndrome type 1 | ClinVar Annotator: match by term: Orofaciodigital syndrome I OMIM:311200 CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:243C>G (H81Q) (human) DNA:frameshift mutations, missense mutation, nonsense mutation:multiple DNA:deletion:exon:c.2183delG (human) DNA:frameshift mutations, missense mutation, splice-site mutation:multiple DNA:mutations:exon, intron:multiple |
OMIM ClinVar MouseDO CTD RGD |
PMID:9198060 PMID:9482645 PMID:9536098 PMID:11179005 PMID:11950863 PMID:12595504 PMID:16783569 PMID:17576681 PMID:18414213 PMID:18546297 PMID:23033313 PMID:24884629 PMID:25741868 PMID:26275793 PMID:26467025 PMID:26477546 PMID:27081566 PMID:28492532 PMID:28973083 PMID:29193896 PMID:31373179 PMID:34440443 PMID:18177199 PMID:16397067 PMID:21729220 PMID:11950863 PMID:23033313 More...
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RGD:11535968, RGD:11535966, RGD:11535960, RGD:11535958, RGD:11535957 |
NCBI chr X:31,647,000...31,687,768
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G |
Tmem17 |
transmembrane protein 17 |
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ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome I |
ClinVar |
PMID:25741868 PMID:26982032 |
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NCBI chr14:100,684,655...100,725,471
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G |
Intu |
inturned planar cell polarity protein |
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ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome II |
ClinVar |
PMID:27158779 |
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NCBI chr 2:125,528,965...125,613,295
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G |
Nek1 |
NIMA-related kinase 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Mohr syndrome |
ClinVar OMIM |
PMID:25741868 PMID:27530628 PMID:28492532 PMID:29068549 |
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NCBI chr16:34,009,092...34,137,418
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G |
Celsr2 |
cadherin, EGF LAG seven-pass G-type receptor 2 |
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ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome III |
ClinVar |
PMID:27894351 PMID:28492532 |
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NCBI chr 2:196,029,206...196,053,848
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G |
Ofd1 |
Ofd1 centriole and centriolar satellite protein |
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ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome III |
ClinVar |
PMID:25741868 |
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NCBI chr X:31,647,000...31,687,768
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G |
Tmem231 |
transmembrane protein 231 |
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ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome III |
ClinVar |
PMID:25741868 PMID:25869670 PMID:26489029 PMID:28492532 PMID:34354814 |
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NCBI chr19:56,792,329...56,813,515
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G |
Entpd1 |
ectonucleoside triphosphate diphosphohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Orofacial-digital syndrome IV |
ClinVar |
PMID:28492532 |
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NCBI chr 1:239,425,515...239,552,323
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G |
Tctn3 |
tectonic family member 3 |
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ISO |
ClinVar Annotator: match by term: MOHR-MAJEWSKI SYNDROME | ClinVar Annotator: match by term: Orofacial-digital syndrome IV | ClinVar Annotator: match by term: Orofaciodigital syndrome IV CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2692869 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22883145 PMID:24033266 PMID:25118024 PMID:25741868 PMID:26092869 PMID:27377014 PMID:28333917 PMID:28492532 PMID:28771248 PMID:33098376 PMID:35170189 PMID:37217489 More...
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NCBI chr 1:249,363,428...249,374,698
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G |
Sclt1 |
sodium channel and clathrin linker 1 |
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ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome IX |
ClinVar |
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NCBI chr 2:126,533,436...126,691,879
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G |
Tbc1d32 |
TBC1 domain family, member 32 |
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ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome IX |
ClinVar |
PMID:20159594 PMID:24285566 PMID:25741868 PMID:32060556 PMID:32573025 |
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NCBI chr20:35,902,281...36,133,161
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G |
Ddx59 |
DEAD-box helicase 59 |
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ISO |
ClinVar Annotator: match by term: DDX59-related condition | ClinVar Annotator: match by term: Orofaciodigital syndrome V CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16278897 PMID:23972372 PMID:25741868 PMID:28492532 PMID:28711741 PMID:29127725 PMID:34008892 More...
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NCBI chr13:47,876,258...47,901,214
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G |
C2cd3 |
C2 domain containing 3 centriole elongation regulator |
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ISO |
ClinVar Annotator: match by term: C2CD3-related condition | ClinVar Annotator: match by term: Orofaciodigital syndrome xiv |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24997988 PMID:25741868 PMID:26092869 PMID:26477546 PMID:28492532 PMID:30097616 More...
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NCBI chr 1:164,127,304...164,225,088
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G |
Scnm1 |
sodium channel modifier 1 |
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ISO |
ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XIX |
ClinVar |
PMID:36084634 |
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NCBI chr 2:182,700,883...182,705,119
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G |
4933427D14Rikl |
RIKEN cDNA 4933427D14 gene like |
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ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome XV |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26643951 PMID:28492532 PMID:29138412 PMID:34523780 PMID:34529350 More...
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NCBI chr10:57,282,433...57,331,259
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G |
Tmem107 |
transmembrane protein 107 |
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ISO |
ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVI | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVI |
OMIM ClinVar |
PMID:25741868 PMID:26595381 PMID:28492532 |
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NCBI chr10:54,268,218...54,273,520
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G |
Intu |
inturned planar cell polarity protein |
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ISO |
ClinVar Annotator: match by term: INTU-related condition | ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVII | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVII |
OMIM ClinVar |
PMID:25741868 PMID:27158779 PMID:28492532 PMID:29451301 PMID:34623732 |
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NCBI chr 2:125,528,965...125,613,295
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G |
Ift57 |
intraflagellar transport 57 |
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ISO |
ClinVar Annotator: match by term: IFT57-related condition | ClinVar Annotator: match by term: Orofaciodigital syndrome 18 |
OMIM ClinVar |
PMID:25741868 PMID:27060890 PMID:28492532 PMID:32860008 |
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NCBI chr11:64,528,349...64,593,545
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G |
Rab34 |
RAB34, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Orofaciodigital syndrome XX |
OMIM ClinVar |
PMID:25741868 PMID:37384395 PMID:37619988 |
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NCBI chr10:63,581,542...63,585,608
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G |
Zrsr2 |
zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 |
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ISO |
ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XXI |
OMIM ClinVar |
PMID:11003938 PMID:25679214 PMID:25741868 PMID:31680349 PMID:38158857 |
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NCBI chr X:34,179,279...34,201,989
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G |
Cat |
catalase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25101153 |
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NCBI chr 3:110,297,340...110,329,526
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G |
Gh1 |
growth hormone 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15151564 |
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NCBI chr10:91,727,883...91,729,860
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G |
Igf1 |
insulin-like growth factor 1 |
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ISO |
protein:decreased activity:serum: |
RGD |
PMID:17067837 |
RGD:12743588 |
NCBI chr 7:24,169,608...24,249,446
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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 chr14:86,270,208...86,277,944
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G |
Nos2 |
nitric oxide synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25101153 |
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NCBI chr10:64,313,335...64,349,221
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G |
Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Turner syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:1,548,449...1,613,461
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G |
Sod1 |
superoxide dismutase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25101153 |
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NCBI chr11:42,942,742...42,948,399
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25101153 |
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NCBI chr 1:50,043,323...50,050,168
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G |
Vdr |
vitamin D receptor |
susceptibility |
ISO |
DNA:SNP: :rs7975232(human) |
RGD |
PMID:21823528 |
RGD:13432073 |
NCBI chr 7:130,864,764...130,916,757
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G |
Aff2 |
ALF transcription elongation factor 2 |
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ISO |
ClinVar Annotator: match by term: AFF2-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 109 |
OMIM ClinVar |
PMID:18414213 PMID:21739600 PMID:22773736 PMID:23562910 PMID:25741868 PMID:28492532 More...
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NCBI chr X:147,928,130...148,432,484
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G |
Serpina1 |
serpin family A member 1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 |
ClinVar |
PMID:1608473 PMID:1889260 PMID:2339709 PMID:2575668 PMID:2696185 PMID:2700304 PMID:2904702 PMID:2989709 PMID:3264419 PMID:3484754 PMID:3500183 PMID:3537008 PMID:3875547 PMID:6306478 PMID:7045697 PMID:7227484 PMID:7977369 PMID:8970361 PMID:9195389 PMID:9569237 PMID:11778003 PMID:12034572 PMID:14522813 PMID:15454649 PMID:15978931 PMID:17964515 PMID:18187064 PMID:18294358 PMID:18340647 PMID:18414213 PMID:18515255 PMID:19083091 PMID:19398551 PMID:19444872 PMID:19738092 PMID:20301692 PMID:20981092 PMID:21067581 PMID:21228398 PMID:21637600 PMID:21960536 PMID:22426792 PMID:22735536 PMID:22912729 PMID:22933512 PMID:22971141 PMID:22975760 PMID:23484243 PMID:23632999 PMID:23837941 PMID:23858502 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24328305 PMID:24428606 PMID:24518491 PMID:24592811 PMID:25181470 PMID:25637381 PMID:25738741 PMID:25741868 PMID:25966443 PMID:26243289 PMID:26304913 PMID:26310624 PMID:26647313 PMID:26672964 PMID:26771213 PMID:26831755 PMID:26987331 PMID:27153395 PMID:27246852 PMID:27535533 PMID:27959697 PMID:28146470 PMID:28492532 PMID:29083408 PMID:29153744 PMID:29431110 PMID:29618937 PMID:29644095 PMID:29882371 PMID:30068317 PMID:30068662 PMID:30254761 PMID:30739910 PMID:31028937 PMID:31216405 PMID:31447099 PMID:31564432 PMID:31980526 PMID:32087139 PMID:32699024 PMID:33144682 PMID:33726816 PMID:34408828 PMID:34408829 More...
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NCBI chr 6:128,631,101...128,653,125
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