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G
|
Agtr1a
|
angiotensin II receptor, type 1a
|
|
ISO
|
ClinVar Annotator: match by term: Deficiency of ferroxidase
|
ClinVar |
PMID:16629161 PMID:28492532 |
|
NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,381,467...34,435,660
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G
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Ankub1
|
ankyrin repeat and ubiquitin domain containing 1
|
|
ISO
|
ClinVar Annotator: match by term: Deficiency of ferroxidase
|
ClinVar |
PMID:16629161 PMID:28492532 |
|
NCBI chr 2:144,005,876...144,044,635
Ensembl chr 2:144,002,872...144,044,295
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G
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Commd2
|
COMM domain containing 2
|
|
ISO
|
ClinVar Annotator: match by term: Deficiency of ferroxidase
|
ClinVar |
PMID:16629161 PMID:28492532 |
|
NCBI chr 2:143,998,672...144,002,918
Ensembl chr 2:143,998,672...144,002,918
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|
G
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Cp
|
ceruloplasmin
|
|
ISO ISS
|
ClinVar Annotator: match by term: CP-related condition | ClinVar Annotator: match by term: Deficiency of ferroxidase | ClinVar Annotator: match by term: Hypoceruloplasminemia OMIM:604290 CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar MouseDO CTD |
PMID:2016084 PMID:3574673 PMID:5675426 PMID:5912351 PMID:7539672 PMID:7708681 PMID:7755360 PMID:7820540 PMID:8641692 PMID:8789443 PMID:9536098 PMID:10997552 PMID:11756598 PMID:11909923 PMID:12351628 PMID:12572680 PMID:15082597 PMID:15557511 PMID:15654567 PMID:15885371 PMID:16150804 PMID:16199547 PMID:16629161 PMID:16775387 PMID:16831606 PMID:17013908 PMID:17576681 PMID:17710675 PMID:18408989 PMID:18414213 PMID:19095659 PMID:20301666 PMID:20430895 PMID:20655381 PMID:20801540 PMID:22243965 PMID:22281056 PMID:24033266 PMID:25247888 PMID:25741868 PMID:25864092 PMID:26777753 PMID:27753142 PMID:28012953 PMID:28431603 PMID:28492532 PMID:29482220 PMID:30901137 PMID:32235485 PMID:32753443 PMID:33774058 PMID:34347207 PMID:35585918 PMID:36595688 More...
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|
NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:104,368,456...104,427,087
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|
G
|
Cpa3
|
carboxypeptidase A3
|
|
ISO
|
ClinVar Annotator: match by term: Deficiency of ferroxidase
|
ClinVar |
PMID:16629161 PMID:28492532 |
|
NCBI chr 2:104,641,619...104,673,253
Ensembl chr 2:104,641,621...104,673,237
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G
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Cpb1
|
carboxypeptidase B1
|
|
ISO
|
ClinVar Annotator: match by term: Deficiency of ferroxidase
|
ClinVar |
PMID:16629161 PMID:28492532 |
|
NCBI chr 2:104,684,275...104,744,824
Ensembl chr 2:104,684,275...104,714,662
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|
G
|
Gyg1
|
glycogenin 1
|
|
ISO
|
ClinVar Annotator: match by term: Deficiency of ferroxidase
|
ClinVar |
PMID:16629161 PMID:28492532 |
|
NCBI chr 2:104,540,927...104,583,038
Ensembl chr 2:104,540,533...104,582,818
|
|
G
|
Hltf
|
helicase-like transcription factor
|
|
ISO
|
ClinVar Annotator: match by term: Deficiency of ferroxidase
|
ClinVar |
PMID:16629161 PMID:28492532 |
|
NCBI chr 2:104,478,725...104,538,531
Ensembl chr 2:104,478,772...104,538,818
|
|
G
|
Hps3
|
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
|
|
ISO
|
ClinVar Annotator: match by term: Deficiency of ferroxidase
|
ClinVar |
PMID:12351628 PMID:16629161 PMID:18414213 PMID:19095659 PMID:24033266 PMID:25741868 PMID:28012953 PMID:28492532 More...
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|
NCBI chr 2:104,413,618...104,455,091
Ensembl chr 2:104,413,417...104,455,091
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|
G
|
Rnf13
|
ring finger protein 13
|
|
ISO
|
ClinVar Annotator: match by term: Deficiency of ferroxidase
|
ClinVar |
PMID:16629161 PMID:28492532 |
|
NCBI chr 2:144,076,526...144,211,520
Ensembl chr 2:144,077,916...144,211,798
|
|
G
|
Slc40a1
|
solute carrier family 40 member 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:20655381 |
|
NCBI chr 9:55,525,457...55,633,463
Ensembl chr 9:55,525,532...55,543,460
|
|
G
|
Tm4sf1
|
transmembrane 4 L six family member 1
|
|
ISO
|
ClinVar Annotator: match by term: Deficiency of ferroxidase
|
ClinVar |
PMID:16629161 PMID:28492532 |
|
NCBI chr 2:143,606,980...143,616,176
Ensembl chr 2:143,603,271...143,616,176
|
|
G
|
Tm4sf4
|
transmembrane 4 L six family member 4
|
|
ISO
|
ClinVar Annotator: match by term: Deficiency of ferroxidase
|
ClinVar |
PMID:16629161 PMID:28492532 |
|
NCBI chr 2:143,720,220...143,771,283
Ensembl chr 2:143,720,267...143,771,227
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|
G
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Wwtr1
|
WW domain containing transcription regulator 1
|
|
ISO
|
ClinVar Annotator: match by term: Deficiency of ferroxidase
|
ClinVar |
PMID:16629161 PMID:28492532 |
|
NCBI chr 2:143,801,181...143,916,941
Ensembl chr 2:143,801,181...143,991,950
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|
|
G
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Adar
|
adenosine deaminase, RNA-specific
|
|
ISO ISS
|
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846 DNA:mutations:exons:
|
CTD ClinVar MouseDO RGD |
PMID:9889202 PMID:12210792 PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 PMID:24262145 PMID:25456137 PMID:25604658 PMID:25741868 PMID:26629815 PMID:28139822 PMID:28492532 PMID:28561207 PMID:29221912 PMID:29603717 PMID:31772029 PMID:33289110 PMID:33307271 PMID:33723056 PMID:34343497 PMID:35859177 PMID:23001123 More...
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RGD:11069491 |
NCBI chr 2:177,436,076...177,475,969
Ensembl chr 2:177,436,094...177,475,971
|
|
G
|
Atrip
|
ATR interacting protein
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
|
ClinVar |
PMID:16845398 PMID:17293595 PMID:17357087 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18724932 PMID:18805785 PMID:20131292 PMID:20392289 PMID:20799324 PMID:21270825 PMID:21937424 PMID:23881107 PMID:23979357 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26633545 PMID:26938784 PMID:27391121 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29859840 PMID:30219631 PMID:31130681 PMID:31585108 PMID:31980526 PMID:32483926 PMID:32860008 PMID:33042144 PMID:33504652 PMID:33528079 PMID:34426522 PMID:35307828 PMID:35456422 PMID:36586737 More...
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|
NCBI chr 8:118,586,909...118,600,975
Ensembl chr 8:118,586,909...118,600,944
|
|
G
|
Ifih1
|
interferon induced with helicase C domain 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome
|
CTD ClinVar |
PMID:24686847 PMID:25741868 |
|
NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:67,637,545...67,683,968
|
|
G
|
Kat5
|
lysine acetyltransferase 5
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
|
ClinVar |
PMID:25741868 |
|
NCBI chr 1:212,325,089...212,332,640
Ensembl chr 1:212,325,090...212,332,587
|
|
G
|
Rnaseh2a
|
ribonuclease H2, subunit A
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
|
ClinVar |
PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 PMID:24033266 PMID:24183309 PMID:24300241 PMID:25274781 PMID:25604658 PMID:25741868 PMID:26182405 PMID:27943079 PMID:28492532 PMID:31069529 PMID:31130681 PMID:33707687 PMID:35551623 PMID:36430958 More...
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|
NCBI chr19:40,091,206...40,100,904
Ensembl chr19:40,091,210...40,100,899
|
|
G
|
Rnaseh2b
|
ribonuclease H2, subunit B
|
|
ISO
|
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome
|
CTD ClinVar |
PMID:10065021 PMID:16199547 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 PMID:19015152 PMID:19034401 PMID:19694776 PMID:20131292 PMID:21177854 PMID:21177858 PMID:22149989 PMID:23165795 PMID:24033266 PMID:25243380 PMID:25274781 PMID:25343331 PMID:25500883 PMID:25604658 PMID:25614871 PMID:25741868 PMID:26046366 PMID:26182405 PMID:26467025 PMID:26846091 PMID:26903602 PMID:27009121 PMID:27654912 PMID:27943079 PMID:28492532 PMID:28762473 PMID:29030706 PMID:29239743 PMID:29691679 PMID:30111349 PMID:30223285 PMID:30609409 PMID:30826161 PMID:31130284 PMID:31130681 PMID:31367981 PMID:31529068 PMID:31664448 PMID:31920009 PMID:31980526 PMID:32258229 PMID:32380161 PMID:32404165 PMID:33258288 PMID:33307271 PMID:33967934 PMID:34042169 PMID:36775013 PMID:37296061 More...
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|
NCBI chr15:40,717,252...40,770,826
Ensembl chr15:40,717,232...40,770,825
|
|
G
|
Rnaseh2c
|
ribonuclease H2, subunit C
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
|
ClinVar |
PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 PMID:19034401 PMID:20131292 PMID:21177854 PMID:23322642 PMID:24183309 PMID:25604658 PMID:25741868 PMID:28492532 PMID:28739201 PMID:29150899 PMID:29239743 PMID:30315573 PMID:31529068 PMID:32404165 PMID:34302356 PMID:35551623 PMID:37092250 More...
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|
NCBI chr 1:212,323,916...212,325,011
Ensembl chr 1:212,323,939...212,329,571
|
|
G
|
Samhd1
|
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
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|
ISO
|
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome
|
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 PMID:20358604 PMID:20653736 PMID:20842748 PMID:21102625 PMID:21204240 PMID:22174685 PMID:22461318 PMID:22973040 PMID:23364794 PMID:24033266 PMID:24035396 PMID:24183309 PMID:24445253 PMID:25604658 PMID:25741868 PMID:26467025 PMID:27604406 PMID:27943079 PMID:28229507 PMID:28492532 PMID:30275001 PMID:32371413 PMID:32384610 PMID:34492268 PMID:35418820 PMID:36115319 PMID:36311265 PMID:37152446 More...
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|
NCBI chr 3:166,179,742...166,214,448
Ensembl chr 3:166,181,588...166,214,410
|
|
G
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Tldc2
|
TBC/LysM-associated domain containing 2
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|
ISO
|
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:166,162,315...166,178,881
Ensembl chr 3:166,162,657...166,179,389
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|
G
|
Trex1
|
three prime repair exonuclease 1
|
|
ISO ISS
|
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
|
CTD ClinVar MouseDO |
PMID:16845398 PMID:17293595 PMID:17357087 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18724932 PMID:18805785 PMID:20131292 PMID:20392289 PMID:20799324 PMID:21270825 PMID:21937424 PMID:23881107 PMID:23979357 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26633545 PMID:26938784 PMID:27391121 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29859840 PMID:30219631 PMID:31130681 PMID:31585108 PMID:31980526 PMID:32483926 PMID:32860008 PMID:33042144 PMID:33504652 PMID:33528079 PMID:34426522 PMID:35307828 PMID:35456422 PMID:36586737 More...
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|
NCBI chr 8:118,585,082...118,586,382
Ensembl chr 8:118,585,081...118,586,083
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|
G
|
Usp18
|
ubiquitin specific peptidase 18
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
|
|
NCBI chr 4:156,143,770...156,171,292
Ensembl chr 4:156,143,815...156,171,292
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|
|
G
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Amigo3
|
adhesion molecule with Ig like domain 3
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,620,499...117,622,025
Ensembl chr 8:117,616,629...117,626,577
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|
G
|
Amt
|
aminomethyltransferase
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,859,700...117,866,692
Ensembl chr 8:117,860,345...117,866,803
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G
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Apeh
|
acylaminoacyl-peptide hydrolase
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,652,390...117,661,502
Ensembl chr 8:117,652,393...117,661,711
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|
G
|
Arih2
|
ariadne RBR E3 ubiquitin protein ligase 2
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,175,267...118,234,425
Ensembl chr 8:118,175,267...118,234,284
|
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G
|
Atrip
|
ATR interacting protein
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant
|
ClinVar |
PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 PMID:17293595 PMID:17357087 PMID:17440703 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18724932 PMID:18805785 PMID:19344873 PMID:19875384 PMID:20131292 PMID:20392289 PMID:20799324 PMID:20871604 PMID:21270825 PMID:21808053 PMID:21937424 PMID:22367235 PMID:22718116 PMID:22829693 PMID:23602593 PMID:23881107 PMID:23918923 PMID:23979357 PMID:23989343 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25500883 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25848017 PMID:25906927 PMID:26150267 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26691497 PMID:26938784 PMID:27391121 PMID:27604306 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29453956 PMID:29859840 PMID:30219631 PMID:31056085 PMID:31069529 PMID:31130681 PMID:31585108 PMID:31589614 PMID:31719132 PMID:31980526 PMID:32483926 PMID:32562694 PMID:32860008 PMID:32877590 PMID:33042144 PMID:33476576 PMID:33504652 PMID:33528079 PMID:33606975 PMID:33892200 PMID:34426522 PMID:34440436 PMID:34490615 PMID:34490982 PMID:34540776 PMID:35307828 PMID:35456422 PMID:35803721 PMID:35879334 PMID:36586737 PMID:36964972 PMID:37171742 PMID:37597066 PMID:37865086 More...
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|
NCBI chr 8:118,586,909...118,600,975
Ensembl chr 8:118,586,909...118,600,944
|
|
G
|
Bsn
|
bassoon (presynaptic cytomatrix protein)
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,663,447...117,754,412
Ensembl chr 8:117,670,334...117,754,412
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|
G
|
C8h3orf62
|
similar to human chromosome 3 open reading frame 62
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,958,583...117,963,137
Ensembl chr 8:117,958,576...117,963,201
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|
G
|
Camkv
|
CaM kinase-like vesicle-associated
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,505,439...117,519,785
Ensembl chr 8:117,505,408...117,519,797
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|
G
|
Ccdc71
|
coiled-coil domain containing 71
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,025,192...118,040,143
Ensembl chr 8:118,003,244...118,046,209
|
|
G
|
Cdhr4
|
cadherin-related family member 4
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,561,206...117,594,456
Ensembl chr 8:117,561,240...117,569,412
|
|
G
|
Celsr3
|
cadherin, EGF LAG seven-pass G-type receptor 3
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,409,136...118,438,593
Ensembl chr 8:118,409,136...118,436,847
|
|
G
|
Cimip7
|
ciliary microtubule inner protein 7
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,002,336...118,019,337
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|
G
|
Col7a1
|
collagen type VII alpha 1 chain
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,483,364...118,515,736
Ensembl chr 8:118,483,364...118,517,439
|
|
G
|
Dag1
|
dystroglycan 1
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:117,769,517...117,782,199
|
|
G
|
Dalrd3
|
DALR anticodon binding domain containing 3
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,142,009...118,147,082
Ensembl chr 8:118,144,197...118,147,822
|
|
G
|
Dclre1c
|
DNA cross-link repair 1C
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:18223550 PMID:25741868 PMID:25917813 PMID:28492532 |
|
NCBI chr17:79,684,988...79,718,399
Ensembl chr17:79,678,698...79,718,734
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G
|
Gmppb
|
GDP-mannose pyrophosphorylase B
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,616,029...117,622,866
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G
|
Gnai2
|
G protein subunit alpha i2
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,167,045...117,187,652
Ensembl chr 8:117,167,045...117,187,622
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G
|
Gnat1
|
G protein subunit alpha transducin 1
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,229,575...117,234,311
Ensembl chr 8:117,229,575...117,234,311
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G
|
Gpx1
|
glutathione peroxidase 1
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:117,905,280...117,906,581
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G
|
Hyal1
|
hyaluronidase 1
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,129,311...117,133,162
Ensembl chr 8:117,129,277...117,133,146
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G
|
Hyal3
|
hyaluronidase 3
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ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,133,028...117,138,663
Ensembl chr 8:117,132,649...117,139,289
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G
|
Ifrd2
|
interferon-related developmental regulator 2
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,139,612...117,144,834
Ensembl chr 8:117,139,550...117,144,836
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G
|
Iho1
|
interactor of HORMAD1 1
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,969,099...118,005,724
Ensembl chr 8:117,971,077...118,003,482
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G
|
Impdh2
|
inosine monophosphate dehydrogenase 2
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,135,204...118,139,892
Ensembl chr 8:118,135,262...118,139,873
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G
|
Inka1
|
inka box actin regulator 1
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,552,875...117,554,565
Ensembl chr 8:117,552,875...117,554,565
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G
|
Ip6k1
|
inositol hexakisphosphate kinase 1
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,594,177...117,613,266
Ensembl chr 8:117,594,317...117,613,274
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G
|
Ip6k2
|
inositol hexakisphosphate kinase 2
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,362,154...118,388,668
Ensembl chr 8:118,362,795...118,388,667
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G
|
Klhdc8b
|
kelch domain containing 8B
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,020,136...118,025,102
Ensembl chr 8:118,020,376...118,025,102
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G
|
Lamb2
|
laminin subunit beta 2
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,056,899...118,069,090
Ensembl chr 8:118,056,935...118,069,090
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G
|
Lsmem2
|
leucine-rich single-pass membrane protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,144,498...117,149,300
Ensembl chr 8:117,144,464...117,149,185
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G
|
Mir191
|
microRNA 191
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ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,142,627...118,142,717
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G
|
Mon1a
|
MON1 homolog A, secretory trafficking associated
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,452,868...117,471,780
Ensembl chr 8:117,452,936...117,471,768
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G
|
Mst1
|
macrophage stimulating 1
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,646,485...117,652,016
Ensembl chr 8:117,647,438...117,652,015
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G
|
Mst1r
|
macrophage stimulating 1 receptor
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,471,928...117,491,059
Ensembl chr 8:117,475,968...117,490,515
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G
|
Naa80
|
N(alpha)-acetyltransferase 80, NatH catalytic subunit
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,132,957...117,136,207
Ensembl chr 8:117,133,494...117,136,207
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G
|
Nckipsd
|
NCK interacting protein with SH3 domain
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,390,121...118,401,121
Ensembl chr 8:118,390,159...118,401,118
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G
|
Ndufaf3
|
NADH:ubiquinone oxidoreductase complex assembly factor 3
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,139,891...118,141,723
Ensembl chr 8:118,139,892...118,141,723
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G
|
Nicn1
|
nicolin 1, tubulin polyglutamylase complex subunit
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,854,210...117,860,185
Ensembl chr 8:117,854,933...117,860,184
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G
|
P4htm
|
prolyl 4-hydroxylase, transmembrane
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,153,158...118,172,199
Ensembl chr 8:118,153,158...118,171,002
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G
|
Pfkfb4
|
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,522,371...118,565,478
Ensembl chr 8:118,522,365...118,565,468
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G
|
Prkar2a
|
protein kinase cAMP-dependent type II regulatory subunit alpha
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,271,608...118,337,332
Ensembl chr 8:118,274,167...118,337,330
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G
|
Qars1
|
glutaminyl-tRNA synthetase 1
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,086,243...118,094,274
Ensembl chr 8:118,086,228...118,094,274
|
|
G
|
Qrich1
|
glutamine-rich 1
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,095,435...118,135,001
Ensembl chr 8:118,095,429...118,134,999
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G
|
Rbm5
|
RNA binding motif protein 5
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,298,866...117,328,107
Ensembl chr 8:117,299,084...117,327,706
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G
|
Rbm6
|
RNA binding motif protein 6
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,327,607...117,431,397
Ensembl chr 8:117,331,325...117,431,397
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G
|
Rhoa
|
ras homolog family member A
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:117,870,270...117,904,302
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G
|
Rnaseh2b
|
ribonuclease H2, subunit B
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:25741868 |
|
NCBI chr15:40,717,252...40,770,826
Ensembl chr15:40,717,232...40,770,825
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G
|
Rnf123
|
ring finger protein 123
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,618,776...117,646,400
Ensembl chr 8:117,618,425...117,646,274
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G
|
Sema3b
|
semaphorin 3B
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,150,307...117,161,570
Ensembl chr 8:117,150,589...117,157,658
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G
|
Sema3f
|
semaphorin 3F
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,236,269...117,265,206
Ensembl chr 8:117,236,269...117,265,206
|
|
G
|
Shisa5
|
shisa family member 5
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,569,975...118,584,880
Ensembl chr 8:118,569,975...118,584,880
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G
|
Slc25a20
|
solute carrier family 25 member 20
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,243,573...118,265,027
Ensembl chr 8:118,243,519...118,265,027
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G
|
Slc26a6
|
solute carrier family 26 member 6
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,438,110...118,448,271
Ensembl chr 8:118,438,180...118,448,270
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G
|
Slc38a3
|
solute carrier family 38, member 3
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,202,534...117,220,310
Ensembl chr 8:117,202,536...117,218,630
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|
G
|
Tcta
|
T-cell leukemia translocation altered
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,867,153...117,871,132
Ensembl chr 8:117,867,153...117,871,331
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|
G
|
Tmem89
|
transmembrane protein 89
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,449,870...118,450,764
Ensembl chr 8:118,449,870...118,450,764
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G
|
Traip
|
TRAF-interacting protein
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,520,476...117,540,253
Ensembl chr 8:117,520,441...117,540,253
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G
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Trex1
|
three prime repair exonuclease 1
|
susceptibility
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant
|
ClinVar OMIM |
PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 PMID:17293595 PMID:17357087 PMID:17440703 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18724932 PMID:18805785 PMID:19344873 PMID:19875384 PMID:20131292 PMID:20392289 PMID:20799324 PMID:20871604 PMID:21270825 PMID:21808053 PMID:21937424 PMID:22367235 PMID:22718116 PMID:22829693 PMID:23602593 PMID:23881107 PMID:23918923 PMID:23979357 PMID:23989343 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25500883 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25848017 PMID:25906927 PMID:26150267 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26691497 PMID:26938784 PMID:27391121 PMID:27604306 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29453956 PMID:29859840 PMID:30219631 PMID:31056085 PMID:31069529 PMID:31130681 PMID:31585108 PMID:31589614 PMID:31719132 PMID:31980526 PMID:32483926 PMID:32562694 PMID:32860008 PMID:32877590 PMID:33042144 PMID:33476576 PMID:33504652 PMID:33528079 PMID:33606975 PMID:33892200 PMID:34426522 PMID:34440436 PMID:34490615 PMID:34490982 PMID:34540776 PMID:35307828 PMID:35456422 PMID:35803721 PMID:35879334 PMID:36586737 PMID:36964972 PMID:37171742 PMID:37597066 PMID:37865086 More...
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NCBI chr 8:118,585,082...118,586,382
Ensembl chr 8:118,585,081...118,586,083
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G
|
Uba7
|
ubiquitin-like modifier activating enzyme 7
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,543,902...117,552,709
Ensembl chr 8:117,543,957...117,556,142
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G
|
Ucn2
|
urocortin 2
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,516,111...118,517,660
Ensembl chr 8:118,483,364...118,517,439
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G
|
Uqcrc1
|
ubiquinol-cytochrome c reductase core protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,468,223...118,479,968
Ensembl chr 8:118,468,200...118,479,964
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G
|
Usp19
|
ubiquitin specific peptidase 19
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,069,227...118,080,283
Ensembl chr 8:118,069,240...118,080,300
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G
|
Usp4
|
ubiquitin specific peptidase 4
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:117,912,576...117,957,934
Ensembl chr 8:117,914,614...117,957,949
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|
G
|
Wdr6
|
WD repeat domain 6
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
|
ClinVar |
PMID:16845398 PMID:28492532 |
|
NCBI chr 8:118,146,608...118,153,024
Ensembl chr 8:118,146,608...118,153,092
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|
|
G
|
Rnaseh2b
|
ribonuclease H2, subunit B
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition
|
OMIM ClinVar |
PMID:9536098 PMID:10065021 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 PMID:19015152 PMID:19034401 PMID:19694776 PMID:20131292 PMID:21177854 PMID:21177858 PMID:22149989 PMID:22882256 PMID:23165795 PMID:24033266 PMID:24183309 PMID:25243380 PMID:25274781 PMID:25343331 PMID:25500883 PMID:25604658 PMID:25614871 PMID:25741868 PMID:26046366 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26846091 PMID:26860721 PMID:26903602 PMID:27009121 PMID:27654912 PMID:27943079 PMID:28332073 PMID:28492532 PMID:28762473 PMID:29030706 PMID:29239743 PMID:29691679 PMID:29720203 PMID:30111349 PMID:30223285 PMID:30609409 PMID:30826161 PMID:30889214 PMID:31130284 PMID:31130681 PMID:31367981 PMID:31529068 PMID:31664448 PMID:31920009 PMID:31980526 PMID:32258229 PMID:32380161 PMID:32404165 PMID:32488064 PMID:33084218 PMID:33258288 PMID:33307271 PMID:33482855 PMID:33967934 PMID:33981319 PMID:34042169 PMID:35551623 PMID:36775013 PMID:37296061 More...
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|
NCBI chr15:40,717,252...40,770,826
Ensembl chr15:40,717,232...40,770,825
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|
|
G
|
Actn3
|
actinin alpha 3
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,588,473...211,604,401
Ensembl chr 1:211,588,474...211,604,401
|
|
G
|
Acy3
|
aminoacylase 3
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,709,238...210,715,258
Ensembl chr 1:210,709,294...210,715,633
|
|
G
|
Aip
|
aryl-hydrocarbon receptor-interacting protein
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,837,473...210,848,691
Ensembl chr 1:210,836,755...210,848,634
|
|
G
|
Aldh3b1
|
aldehyde dehydrogenase 3 family, member B1
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,574,545...210,605,188
Ensembl chr 1:210,573,661...210,610,538
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|
G
|
Aldh3b2
|
aldehyde dehydrogenase 3 family, member B2
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,679,749...210,694,187
Ensembl chr 1:210,675,302...210,694,155
|
|
G
|
Aldh3b3
|
aldehyde dehydrogenase 3 family, member B3
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,617,090...210,629,886
Ensembl chr 1:210,622,639...210,629,879
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G
|
Ankrd13d
|
ankyrin repeat domain 13D
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,995,012...211,007,430
Ensembl chr 1:210,995,148...211,007,369
|
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G
|
Ano1
|
anoctamin 1
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:209,180,755...209,329,413
Ensembl chr 1:209,180,755...209,329,550
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G
|
Ap5b1
|
adaptor related protein complex 5 subunit beta 1
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 1:212,305,612...212,309,643
Ensembl chr 1:212,305,604...212,309,629
|
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G
|
B4gat1
|
beta-1,4-glucuronyltransferase 1
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,772,644...211,774,866
Ensembl chr 1:211,772,606...211,775,442
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G
|
Banf1
|
barrier to autointegration nuclear assembly factor 1
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:212,101,523...212,103,568
Ensembl chr 1:212,101,523...212,103,552
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G
|
Bbs1
|
Bardet-Biedl syndrome 1
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,614,195...211,633,504
Ensembl chr 1:211,615,533...211,633,468
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G
|
Bles03
|
basophilic leukemia expressed protein BLES03
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:212,163,892...212,166,146
Ensembl chr 1:212,163,892...212,166,141
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G
|
Brms1
|
BRMS1, transcriptional repressor and anoikis regulator
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,775,142...211,784,411
Ensembl chr 1:211,775,095...211,784,410
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G
|
C1h11orf24
|
similar to human chromosome 11 open reading frame 24
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,374,426...210,383,191
Ensembl chr 1:210,374,543...210,383,566
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G
|
C1h11orf86
|
similar to human chromosome 11 open reading frame 86
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,213,429...211,225,624
Ensembl chr 1:211,213,445...211,229,116
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G
|
Cabp2
|
calcium binding protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,804,111...210,809,941
Ensembl chr 1:210,804,096...210,809,940
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G
|
Cabp4
|
calcium binding protein 4
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,857,223...210,872,431
Ensembl chr 1:210,858,133...210,862,632
|
|
G
|
Capn1
|
calpain 1
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:212,705,219...212,736,134
Ensembl chr 1:212,705,222...212,729,445
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G
|
Carns1
|
carnosine synthase 1
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,888,520...210,899,311
Ensembl chr 1:210,888,520...210,899,131
|
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G
|
Catsper1
|
cation channel, sperm associated 1
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:212,072,371...212,081,179
Ensembl chr 1:212,072,412...212,081,178
|
|
G
|
Ccdc85b
|
coiled-coil domain containing 85B
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:212,192,979...212,193,994
Ensembl chr 1:212,189,468...212,196,911
|
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G
|
Ccdc87
|
coiled-coil domain containing 87
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,564,419...211,567,115
Ensembl chr 1:211,475,789...211,568,008
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G
|
Ccnd1
|
cyclin D1
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:209,518,288...209,527,810
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|
G
|
Ccs
|
copper chaperone for superoxide dismutase
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,543,192...211,564,354
Ensembl chr 1:211,542,701...211,564,260
|
|
G
|
Cd248
|
CD248 molecule
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,803,052...211,805,616
Ensembl chr 1:211,801,934...211,805,776
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|
G
|
Cdc42ep2
|
CDC42 effector protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:212,631,317...212,640,231
Ensembl chr 1:212,629,881...212,640,234
|
|
G
|
Cdk2ap2
|
cyclin-dependent kinase 2 associated protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,819,155...210,822,604
Ensembl chr 1:210,820,507...210,823,010
|
|
G
|
Cfl1
|
cofilin 1
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 1:212,227,124...212,230,656
Ensembl chr 1:212,226,121...212,231,353
|
|
G
|
Chka
|
choline kinase alpha
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,506,069...210,554,753
Ensembl chr 1:210,506,056...210,554,752
|
|
G
|
Clcf1
|
cardiotrophin-like cytokine factor 1
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,937,763...210,947,064
Ensembl chr 1:210,937,255...210,947,064
|
|
G
|
Cnih2
|
cornichon family AMPA receptor auxiliary protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,828,791...211,834,474
Ensembl chr 1:211,828,794...211,834,437
|
|
G
|
Coro1b
|
coronin 1B
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,872,437...210,877,876
Ensembl chr 1:210,871,841...210,877,876
|
|
G
|
Cpt1a
|
carnitine palmitoyltransferase 1A
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:209,993,881...210,056,329
Ensembl chr 1:209,993,875...210,056,326
|
|
G
|
Cst6
|
cystatin E/M
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:212,084,676...212,086,384
Ensembl chr 1:212,084,676...212,086,384
|
|
G
|
Ctsf
|
cathepsin F
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,582,169...211,587,917
Ensembl chr 1:211,582,098...211,587,916
|
|
G
|
Ctsw
|
cathepsin W
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:212,201,904...212,208,028
Ensembl chr 1:212,201,904...212,205,292
|
|
G
|
Dpf2
|
double PHD fingers 2
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:212,612,986...212,628,376
Ensembl chr 1:212,612,986...212,628,289
|
|
G
|
Dpp3
|
dipeptidylpeptidase 3
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,634,067...211,657,898
Ensembl chr 1:211,634,068...211,658,310
|
|
G
|
Drap1
|
Dr1 associated protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:212,161,107...212,163,833
Ensembl chr 1:212,161,125...212,163,762
|
|
G
|
Efemp2
|
EGF containing fibulin extracellular matrix protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 1:212,211,057...212,218,739
Ensembl chr 1:212,210,972...212,218,739
|
|
G
|
Ehbp1l1
|
EH domain binding protein 1-like 1
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 1:212,423,444...212,444,357
Ensembl chr 1:212,423,447...212,443,598
|
|
G
|
Eif1ad
|
eukaryotic translation initiation factor 1A domain containing
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:212,103,715...212,109,015
Ensembl chr 1:212,103,892...212,109,017
|
|
G
|
Fadd
|
Fas associated via death domain
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:209,169,245...209,175,423
Ensembl chr 1:209,169,318...209,174,976
|
|
G
|
Fam89b
|
family with sequence similarity 89, member B
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 1:212,445,101...212,447,164
Ensembl chr 1:212,445,102...212,446,738
|
|
G
|
Fgf19
|
fibroblast growth factor 19
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:209,485,813...209,490,267
Ensembl chr 1:209,485,813...209,490,267
|
|
G
|
Fgf3
|
fibroblast growth factor 3
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:209,430,457...209,434,832
Ensembl chr 1:209,430,457...209,434,832
|
|
G
|
Fgf4
|
fibroblast growth factor 4
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:209,453,229...209,457,085
Ensembl chr 1:209,453,229...209,457,085
|
|
G
|
Fibp
|
FGF1 intracellular binding protein
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:212,197,216...212,201,732
Ensembl chr 1:212,197,416...212,201,731
|
|
G
|
Fosl1
|
FOS like 1, AP-1 transcription factor subunit
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:212,183,885...212,192,391
Ensembl chr 1:212,183,833...212,192,391
|
|
G
|
Frmd8
|
FERM domain containing 8
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:212,572,534...212,593,181
Ensembl chr 1:212,572,537...212,592,695
|
|
G
|
Gal
|
galanin and GMAP prepropeptide
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,079,709...210,084,572
Ensembl chr 1:210,079,702...210,084,229
|
|
G
|
Gal3st3
|
galactose-3-O-sulfotransferase 3
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:212,022,989...212,032,802
Ensembl chr 1:212,023,000...212,032,801
|
|
G
|
Gpr152
|
G protein-coupled receptor 152
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,865,338...210,867,833
Ensembl chr 1:210,865,338...210,867,833
|
|
G
|
Grk2
|
G protein-coupled receptor kinase 2
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,010,259...211,031,013
Ensembl chr 1:211,009,978...211,031,015
|
|
G
|
Gstp1
|
glutathione S-transferase pi 1
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:210,767,237...210,769,705
|
|
G
|
Ighmbp2
|
immunoglobulin mu DNA binding protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:209,935,922...209,958,570
Ensembl chr 1:209,934,969...209,958,766
|
|
G
|
Kat5
|
lysine acetyltransferase 5
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:25741868 PMID:28492532 PMID:28600438 |
|
NCBI chr 1:212,325,089...212,332,640
Ensembl chr 1:212,325,090...212,332,587
|
|
G
|
Kcnk7
|
potassium two pore domain channel subfamily K member 7
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 1:212,419,555...212,422,173
Ensembl chr 1:212,419,555...212,422,566
|
|
G
|
Kdm2a
|
lysine demethylase 2A
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,041,859...211,125,749
Ensembl chr 1:211,041,885...211,084,479
|
|
G
|
Klc2
|
kinesin light chain 2
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,843,927...211,854,160
Ensembl chr 1:211,843,929...211,854,160
|
|
G
|
Kmt5b
|
lysine methyltransferase 5B
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,429,672...210,479,042
Ensembl chr 1:210,430,127...210,479,035
|
|
G
|
Lrfn4
|
leucine rich repeat and fibronectin type III domain containing 4
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,317,980...211,321,272
Ensembl chr 1:211,317,980...211,321,272
|
|
G
|
Lrp5
|
LDL receptor related protein 5
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:210,243,502...210,346,822
|
|
G
|
Ltbp3
|
latent transforming growth factor beta binding protein 3
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 1:212,458,362...212,475,302
Ensembl chr 1:212,459,185...212,475,302
|
|
G
|
Lto1
|
LTO1 maturation factor of ABCE1
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:209,502,900...209,510,237
Ensembl chr 1:209,498,312...209,517,347
|
|
G
|
Map3k11
|
mitogen-activated protein kinase kinase kinase 11
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 1:212,404,685...212,417,986
Ensembl chr 1:212,403,680...212,417,983
|
|
G
|
Mrgprd
|
MAS related GPR family member D
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:209,908,487...209,917,183
Ensembl chr 1:209,905,099...209,917,183
|
|
G
|
Mrgprf
|
MAS related GPR family member F
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:209,893,384...209,902,852
Ensembl chr 1:209,892,450...209,903,614
|
|
G
|
Mrpl11
|
mitochondrial ribosomal protein L11
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,693,807...211,696,667
Ensembl chr 1:211,693,804...211,697,177
|
|
G
|
Mrpl21
|
mitochondrial ribosomal protein L21
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
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NCBI chr 1:209,958,693...209,987,393
Ensembl chr 1:209,958,082...209,971,750
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G
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Mus81
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MUS81 structure-specific endonuclease subunit
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
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ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chr 1:212,219,793...212,225,214
Ensembl chr 1:212,219,795...212,225,068
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G
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Ndufs8
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NADH:ubiquinone oxidoreductase core subunit S8
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
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ClinVar |
PMID:28492532 |
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NCBI chr 1:210,569,823...210,573,707
Ensembl chr 1:210,569,824...210,572,971
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G
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Ndufv1
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NADH:ubiquinone oxidoreductase core subunit V1
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
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ClinVar |
PMID:28492532 |
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NCBI chr 1:210,729,856...210,735,103
Ensembl chr 1:210,729,858...210,734,949
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G
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Npas4
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neuronal PAS domain protein 4
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
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ClinVar |
PMID:28492532 |
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NCBI chr 1:211,710,640...211,728,038
Ensembl chr 1:211,711,338...211,716,102
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G
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Nudt8
|
nudix hydrolase 8
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
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ClinVar |
PMID:28492532 |
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NCBI chr 1:210,723,209...210,724,717
Ensembl chr 1:210,723,209...210,725,638
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G
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Ovol1
|
ovo like transcriptional repressor 1
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
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ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 1:212,284,601...212,296,106
Ensembl chr 1:212,284,605...212,296,106
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G
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Pacs1
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phosphofurin acidic cluster sorting protein 1
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
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ClinVar |
PMID:28492532 |
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NCBI chr 1:211,866,872...211,998,828
Ensembl chr 1:211,866,874...211,998,828
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G
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Pc
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pyruvate carboxylase
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
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ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,228,708...211,327,792
Ensembl chr 1:211,228,731...211,329,940
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G
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Pcnx3
|
pecanex 3
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
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ClinVar |
PMID:28492532 PMID:28600438 |
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NCBI chr 1:212,380,657...212,402,967
Ensembl chr 1:212,379,851...212,403,166
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G
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Peli3
|
pellino E3 ubiquitin protein ligase family member 3
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
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ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,659,416...211,672,280
Ensembl chr 1:211,661,610...211,672,239
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G
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Pitpnm1
|
phosphatidylinositol transfer protein, membrane-associated 1
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
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ClinVar |
PMID:28492532 |
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NCBI chr 1:210,823,568...210,836,989
Ensembl chr 1:210,823,565...210,836,990
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G
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Pola2
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DNA polymerase alpha 2, accessory subunit
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
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ClinVar |
PMID:28492532 |
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NCBI chr 1:212,656,500...212,680,667
Ensembl chr 1:212,656,501...212,680,542
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G
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Pold4
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DNA polymerase delta 4, accessory subunit
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,956,110...210,957,863
Ensembl chr 1:210,956,099...210,957,860
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G
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Ppp1ca
|
protein phosphatase 1 catalytic subunit alpha
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
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ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,914,576...210,918,193
Ensembl chr 1:210,914,567...210,918,193
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G
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Ppp6r3
|
protein phosphatase 6, regulatory subunit 3
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,122,394...210,236,839
Ensembl chr 1:210,122,394...210,236,809
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G
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Ptprcap
|
protein tyrosine phosphatase, receptor type, C-associated protein
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,878,593...210,880,752
Ensembl chr 1:210,878,573...210,881,753
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G
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Rab1b
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RAB1B, member RAS oncogene family
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,835,133...211,843,408
Ensembl chr 1:211,835,073...211,843,337 Ensembl chr X:211,835,073...211,843,337
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G
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Rad9a
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RAD9 checkpoint clamp component A
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ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,917,970...210,983,038
Ensembl chr 1:210,917,970...210,925,161
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G
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Rbm14
|
RNA binding motif protein 14
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,476,298...211,535,077
Ensembl chr 1:211,523,972...211,535,065
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G
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Rbm4
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RNA binding motif protein 4
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ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,507,845...211,516,907
Ensembl chr 1:211,506,343...211,516,891
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G
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Rbm4b
|
RNA binding motif protein 4B
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,477,337...211,487,428
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G
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Rce1
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Ras converting CAAX endopeptidase 1
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,328,769...211,345,944
Ensembl chr 1:211,328,696...211,331,869
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G
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Rela
|
RELA proto-oncogene, NF-kB subunit
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|
ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:212,333,035...212,364,817
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G
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Rhod
|
ras homolog family member D
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,138,126...211,153,953
Ensembl chr 1:211,138,126...211,152,061
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G
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Rin1
|
Ras and Rab interactor 1
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ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,785,107...211,789,755
Ensembl chr 1:211,784,943...211,791,368
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G
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Rnaseh2c
|
ribonuclease H2, subunit C
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ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 PMID:19034401 PMID:20131292 PMID:21177854 PMID:23322642 PMID:24183309 PMID:25500883 PMID:25604658 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28600438 PMID:28739201 PMID:29150899 PMID:29239743 PMID:29389947 PMID:30315573 PMID:31130681 PMID:31529068 PMID:32404165 PMID:33353557 PMID:34008892 PMID:34055681 PMID:34302356 PMID:35551623 PMID:36585007 PMID:36836134 PMID:37092250 More...
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NCBI chr 1:212,323,916...212,325,011
Ensembl chr 1:212,323,939...212,329,571
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G
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Rps6kb2
|
ribosomal protein S6 kinase B2
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,880,824...210,887,556
Ensembl chr 1:210,880,825...210,887,562
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G
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Sart1
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spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP
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ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:212,119,824...212,128,517
Ensembl chr 1:212,104,557...212,128,486
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G
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Scyl1
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SCY1 like pseudokinase 1
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:212,475,198...212,489,285
Ensembl chr 1:212,475,068...212,501,129
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G
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Sf3b2
|
splicing factor 3b, subunit 2
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,999,777...212,040,686
Ensembl chr 1:211,999,778...212,020,113
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G
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Sipa1
|
signal-induced proliferation-associated 1
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 1:212,367,867...212,379,952
Ensembl chr 1:212,367,867...212,377,497
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G
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Slc25a45
|
solute carrier family 25, member 45
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:212,595,536...212,603,786
Ensembl chr 1:212,595,982...212,603,786
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G
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Slc29a2
|
solute carrier family 29 member 2
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ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,756,588...211,764,561
Ensembl chr 1:211,757,000...211,764,560
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G
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Snx32
|
sorting nexin 32
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 1:212,231,716...212,248,127
Ensembl chr 1:212,228,992...212,248,071
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G
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Sptbn2
|
spectrin, beta, non-erythrocytic 2
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|
ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,432,373...211,473,016
Ensembl chr 1:211,432,373...211,473,306
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G
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Ssh3
|
slingshot protein phosphatase 3
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ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,986,604...210,994,975
Ensembl chr 1:210,986,606...210,994,284
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G
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Syt12
|
synaptotagmin 12
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,158,745...211,189,780
Ensembl chr 1:211,159,800...211,189,037
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G
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Tbc1d10c
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TBC1 domain family, member 10C
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ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,906,621...210,913,649
Ensembl chr 1:210,906,616...210,994,356
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G
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Tbx10
|
T-box transcription factor 10
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,714,992...210,722,089
Ensembl chr 1:210,718,894...210,722,089
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G
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Tcirg1
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T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,556,270...210,568,021
Ensembl chr 1:210,556,270...210,568,033
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G
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Tesmin
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testis expressed metallothionein like protein
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
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ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,059,414...210,077,704
Ensembl chr 1:210,059,393...210,077,703
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G
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Tigd3
|
tigger transposable element derived 3
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ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:212,607,772...212,612,683
Ensembl chr 1:212,607,138...212,610,802
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G
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Tmem134
|
transmembrane protein 134
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ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
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ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,848,761...210,857,735
Ensembl chr 1:210,848,578...210,858,861
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G
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Tmem151a
|
transmembrane protein 151A
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ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
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ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,816,773...211,821,558
Ensembl chr 1:211,816,773...211,822,317
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G
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Top6bl
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TOP6B like initiator of meiotic double strand breaks
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ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,331,973...211,419,015
Ensembl chr 1:211,331,827...211,419,015
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G
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Tpcn2
|
two pore segment channel 2
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:209,845,827...209,875,561
Ensembl chr 1:209,845,835...209,875,457
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G
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Tsga10ip
|
testis specific 10 interacting protein
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:212,129,921...212,144,784
Ensembl chr 1:212,129,923...212,144,209
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G
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Unc93b1
|
unc-93 homolog B1, TLR signaling regulator
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:210,596,639...210,607,579
Ensembl chr 1:210,573,288...210,607,579
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G
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Yif1a
|
Yip1 interacting factor homolog A, membrane trafficking protein
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,823,921...211,828,437
Ensembl chr 1:211,824,273...211,828,802
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G
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Zdhhc24
|
zinc finger, DHHC-type containing 24
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|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:211,605,163...211,612,267
Ensembl chr 1:211,605,185...211,612,277
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G
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Znrd2
|
zinc ribbon domain containing 2
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
|
ClinVar |
PMID:28492532 PMID:28600438 |
|
NCBI chr 1:212,447,010...212,448,793
Ensembl chr 1:212,447,010...212,448,793
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|
|
G
|
Best2
|
bestrophin 2
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
|
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:40,047,191...40,053,216
Ensembl chr19:40,047,191...40,053,216
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G
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Cacna1a
|
calcium voltage-gated channel subunit alpha1 A
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
|
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:40,425,560...40,724,810
Ensembl chr19:40,425,560...40,724,599
|
|
G
|
Calr
|
calreticulin
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
|
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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|
NCBI chr19:40,213,367...40,218,262
Ensembl chr19:40,213,239...40,219,236
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G
|
Dand5
|
DAN domain BMP antagonist family member 5
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
|
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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|
NCBI chr19:40,231,061...40,245,329
|
|
G
|
Dhps
|
deoxyhypusine synthase
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
|
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:39,987,328...39,991,418
Ensembl chr19:39,987,324...39,991,432
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G
|
Dnase2
|
deoxyribonuclease 2, lysosomal
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
|
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:40,149,505...40,152,225
Ensembl chr19:40,149,505...40,152,225
|
|
G
|
Farsa
|
phenylalanyl-tRNA synthetase subunit alpha
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
|
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
|
|
NCBI chr19:40,196,255...40,205,830
Ensembl chr19:40,173,716...40,205,823
|
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G
|
Fbxw9
|
F-box and WD repeat domain containing 9
|
|
ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
|
ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:39,995,408...40,002,312
Ensembl chr19:39,995,408...40,002,312
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G
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Gadd45gip1
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GADD45G interacting protein 1
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
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ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:40,225,503...40,228,052
Ensembl chr19:40,225,984...40,228,055
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G
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Gcdh
|
glutaryl-CoA dehydrogenase
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ISO
|
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
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ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:40,168,038...40,174,536
Ensembl chr19:40,168,141...40,175,686
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G
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Get3
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guided entry of tail-anchored proteins factor 3, ATPase
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
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ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:40,034,675...40,043,064
Ensembl chr19:40,034,967...40,043,061
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G
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Hook2
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hook microtubule-tethering protein 2
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
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ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:40,056,732...40,075,027
Ensembl chr19:40,056,732...40,081,270
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G
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Ier2
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immediate early response 2
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
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ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:40,399,373...40,400,897
Ensembl chr19:40,398,160...40,402,708
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G
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Junb
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JunB proto-oncogene, AP-1 transcription factor subunit
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
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ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:40,081,126...40,082,910
Ensembl chr19:40,073,541...40,085,218
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G
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Klf1
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KLF transcription factor 1
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
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ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:40,155,476...40,158,651
Ensembl chr19:40,155,480...40,158,607
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G
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Lyl1
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LYL1, basic helix-loop-helix family member
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
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ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:40,356,967...40,359,834
Ensembl chr19:40,354,819...40,359,834
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G
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Man2b1
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mannosidase, alpha, class 2B, member 1
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
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ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:39,959,964...39,979,299
Ensembl chr19:39,959,965...39,979,246
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G
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Mast1
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microtubule associated serine/threonine kinase 1
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
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ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:40,121,271...40,149,073
Ensembl chr19:40,112,831...40,149,073
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G
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Nacc1
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nucleus accumbens associated 1
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
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ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:40,373,436...40,391,351
Ensembl chr19:40,373,449...40,391,347
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G
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Nfix
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nuclear factor I X
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
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ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:40,259,873...40,356,966
Ensembl chr19:40,260,084...40,353,092
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G
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Prdx2
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peroxiredoxin 2
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
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ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:40,085,788...40,091,083
Ensembl chr19:40,084,430...40,091,006
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G
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Rad23a
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RAD23 homolog A, nucleotide excision repair protein
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
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ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:40,219,235...40,225,543
Ensembl chr19:40,219,636...40,225,543
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G
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Rnaseh2a
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ribonuclease H2, subunit A
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:9536098 PMID:10371528 PMID:10699052 PMID:11854167 PMID:15870678 PMID:16199547 PMID:16602100 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19486177 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 PMID:24033266 PMID:24183309 PMID:24300241 PMID:25274781 PMID:25500883 PMID:25604658 PMID:25735478 PMID:25741868 PMID:26182405 PMID:26467025 PMID:27250579 PMID:27943079 PMID:28492532 PMID:28600779 PMID:28739201 PMID:29239743 PMID:31069529 PMID:31130284 PMID:31130681 PMID:31325311 PMID:31529068 PMID:33165593 PMID:33353557 PMID:33707687 PMID:35551623 PMID:36430958 PMID:37626525 More...
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NCBI chr19:40,091,206...40,100,904
Ensembl chr19:40,091,210...40,100,899
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G
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Rtbdn
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retbindin
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
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ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:40,102,364...40,112,791
Ensembl chr19:40,102,364...40,109,295
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G
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Syce2
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synaptonemal complex central element protein 2
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
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ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:40,173,713...40,195,959
Ensembl chr19:40,173,716...40,205,823
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G
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Tnpo2
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transportin 2
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
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ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:40,004,271...40,024,565
Ensembl chr19:40,004,275...40,024,187
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G
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Trir
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telomerase RNA component interacting RNase
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
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ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:40,029,952...40,033,368
Ensembl chr19:40,029,952...40,033,368
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G
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Trmt1
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tRNA methyltransferase 1
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
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ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:40,361,583...40,374,971
Ensembl chr19:40,361,583...40,374,622
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G
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Wdr83
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WD repeat domain 83
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
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ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:39,981,890...39,987,443
Ensembl chr19:39,981,262...39,987,442
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G
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Wdr83os
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WD repeat domain 83 opposite strand
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
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ClinVar |
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:21454563 PMID:25274781 PMID:25735478 PMID:27250579 PMID:28492532 More...
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NCBI chr19:39,980,247...39,981,619
Ensembl chr19:39,980,247...39,982,737
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G
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Blcap
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BLCAP, apoptosis inducing factor
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
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ClinVar |
PMID:28492532 |
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NCBI chr 3:166,642,676...166,656,924
Ensembl chr 3:166,642,677...166,652,829
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G
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Ctnnbl1
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catenin, beta like 1
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
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ClinVar |
PMID:28492532 |
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NCBI chr 3:166,807,899...166,968,932
Ensembl chr 3:166,807,858...166,968,931
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G
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Ghrh
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growth hormone releasing hormone
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
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ClinVar |
PMID:28492532 |
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NCBI chr 3:166,412,763...166,432,519
Ensembl chr 3:166,412,764...166,431,880
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G
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Manbal
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mannosidase beta like
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
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ClinVar |
PMID:28492532 |
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NCBI chr 3:166,455,067...166,484,652
Ensembl chr 3:166,455,066...166,487,431
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G
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Mroh8
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maestro heat-like repeat family member 8
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
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ClinVar |
PMID:28492532 |
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NCBI chr 3:166,294,008...166,362,460
Ensembl chr 3:166,297,394...166,362,427
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G
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Nnat
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neuronatin
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
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ClinVar |
PMID:28492532 |
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NCBI chr 3:166,646,373...166,648,845
Ensembl chr 3:166,646,384...166,649,086
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G
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Rbl1
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RB transcriptional corepressor like 1
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
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ClinVar |
PMID:28492532 |
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NCBI chr 3:166,226,187...166,289,862
Ensembl chr 3:166,226,198...166,289,376
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G
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Rpn2
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ribophorin II
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
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ClinVar |
PMID:28492532 |
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NCBI chr 3:166,361,955...166,409,272
Ensembl chr 3:166,362,049...166,409,922
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G
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Samhd1
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SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 PMID:20358604 PMID:20653736 PMID:20842748 PMID:21102625 PMID:21204240 PMID:21402907 PMID:22174685 PMID:22461318 PMID:22973040 PMID:24033266 PMID:24035396 PMID:24183309 PMID:24300241 PMID:24316776 PMID:24989684 PMID:25604658 PMID:25640679 PMID:25741868 PMID:26273690 PMID:26431200 PMID:26467025 PMID:26504826 PMID:27071091 PMID:27604406 PMID:27643693 PMID:27943079 PMID:28229507 PMID:28454995 PMID:28492532 PMID:28851465 PMID:29239743 PMID:29379009 PMID:29758562 PMID:30275001 PMID:30487145 PMID:31130681 PMID:31797533 PMID:32371413 PMID:33683010 PMID:33857133 PMID:33967934 PMID:34492268 PMID:35573950 PMID:35590234 PMID:36311265 PMID:37152446 PMID:39825153 More...
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NCBI chr 3:166,179,742...166,214,448
Ensembl chr 3:166,181,588...166,214,410
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G
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Src
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SRC proto-oncogene, non-receptor tyrosine kinase
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
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ClinVar |
PMID:28492532 |
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NCBI chr 3:166,511,616...166,559,463
Ensembl chr 3:166,511,985...166,559,462
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G
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Tldc2
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TBC/LysM-associated domain containing 2
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
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ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 3:166,162,315...166,178,881
Ensembl chr 3:166,162,657...166,179,389
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G
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Adar
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adenosine deaminase, RNA-specific
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6
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OMIM ClinVar |
PMID:9536098 PMID:9889202 PMID:12210792 PMID:15146470 PMID:15489923 PMID:15955093 PMID:16817193 PMID:17576681 PMID:19017046 PMID:19060901 PMID:20301648 PMID:22974014 PMID:23001123 PMID:24033266 PMID:24262145 PMID:25243380 PMID:25326637 PMID:25456137 PMID:25468572 PMID:25604658 PMID:25741868 PMID:25982145 PMID:26372505 PMID:26629815 PMID:26802932 PMID:26892242 PMID:27937139 PMID:28139822 PMID:28492532 PMID:28561207 PMID:29185800 PMID:29221912 PMID:29536976 PMID:29603717 PMID:29691679 PMID:29775506 PMID:29915444 PMID:30564185 PMID:30755392 PMID:31772029 PMID:32258229 PMID:32593192 PMID:32801363 PMID:32996714 PMID:33289110 PMID:33307271 PMID:33723056 PMID:34073717 PMID:34343497 PMID:34702576 PMID:35859177 More...
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NCBI chr 2:177,436,076...177,475,969
Ensembl chr 2:177,436,094...177,475,971
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G
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Ifih1
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interferon induced with helicase C domain 1
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7
|
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19264985 PMID:19324880 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 PMID:25620204 PMID:25741868 PMID:26284909 PMID:26833990 PMID:28008999 PMID:28319323 PMID:28475458 PMID:28492532 PMID:28605144 PMID:28716935 PMID:29018476 PMID:29782060 PMID:30219631 PMID:30593198 PMID:30965144 PMID:31178897 PMID:31898846 PMID:32853466 PMID:33440462 PMID:34185153 PMID:34539730 PMID:34975878 PMID:35086391 PMID:35410415 PMID:35754802 PMID:36426976 PMID:36703223 PMID:39825153 More...
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NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:67,637,545...67,683,968
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G
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Lsm11
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LSM11, U7 small nuclear RNA associated
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8
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OMIM ClinVar |
PMID:33230297 |
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NCBI chr10:30,869,168...30,887,275
Ensembl chr10:30,872,054...30,887,269
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G
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Grcc10
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gene rich cluster, C10 gene
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ISO
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ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9
|
ClinVar |
PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 PMID:37171742 |
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NCBI chr 4:159,237,562...159,239,223
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G
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Fam20a
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FAM20A, golgi associated secretory pathway pseudokinase
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ISO
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ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction
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OMIM ClinVar |
PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 PMID:28086997 PMID:28492532 PMID:32246227 PMID:37159186 More...
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NCBI chr10:95,136,799...95,197,176
Ensembl chr10:95,142,458...95,197,053
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G
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Prkar1a
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protein kinase cAMP-dependent type I regulatory subunit alpha
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ISO
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ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction
|
ClinVar |
PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 PMID:28492532 PMID:32246227 More...
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NCBI chr10:95,120,537...95,139,028
Ensembl chr10:95,120,487...95,139,025
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G
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Ager
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advanced glycosylation end product-specific receptor
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IEP
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associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat)
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RGD |
PMID:23497312 |
RGD:7244260 |
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,151,965...4,155,685
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G
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Agt
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angiotensinogen
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IDA
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RGD |
PMID:23291307 |
RGD:8549476 |
NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944
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G
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Atp5f1d
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ATP synthase F1 subunit delta
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treatment
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IEP
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associated with Hypercholesterolemia
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RGD |
PMID:26047104 |
RGD:11057945 |
NCBI chr 7:10,211,260...10,218,989
Ensembl chr 7:10,211,262...10,216,583
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G
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Enpp1
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ectonucleotide pyrophosphatase/phosphodiesterase 1
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ISO
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RGD |
PMID:15625282 |
RGD:13204716 |
NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044
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G
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Grp
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gastrin releasing peptide
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treatment
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ISO
|
associated with chronic kidney disease
|
RGD |
PMID:32192106 |
RGD:329961569 |
NCBI chr18:61,658,655...61,672,037
Ensembl chr18:61,658,250...61,672,037
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G
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Gsn
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gelsolin
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disease_progression
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ISO
|
protein:decreased expression:blood (human)
|
RGD |
PMID:26941566 |
RGD:329336117 |
NCBI chr 3:38,982,605...39,035,849
Ensembl chr 3:38,982,671...39,035,850
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G
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Runx2
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RUNX family transcription factor 2
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treatment
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IEP
|
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RGD |
PMID:29420074 |
RGD:598099548 |
NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:23,664,952...23,990,027
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G
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Sod1
|
superoxide dismutase 1
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IEP
|
associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta
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RGD |
PMID:25430697 |
RGD:11038653 |
NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399
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G
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Sod2
|
superoxide dismutase 2
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IEP
|
associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta
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RGD |
PMID:25430697 |
RGD:11038653 |
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168
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G
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Vkorc1
|
vitamin K epoxide reductase complex, subunit 1
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susceptibility
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IAGP
|
DNA:missense mutation: :p.Y139C (416A>G) (rat)
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RGD |
PMID:19884975 |
RGD:2315841 |
NCBI chr 1:191,932,969...191,935,490
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G
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Col5a1
|
collagen type V alpha 1 chain
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ISO
|
ClinVar Annotator: match by term: Aortic valve disease 1
|
ClinVar |
PMID:25741868 PMID:28074886 PMID:28492532 PMID:30858776 PMID:31903434 PMID:33737726 More...
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NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:31,606,486...31,753,020
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G
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Enpp1
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ectonucleotide pyrophosphatase/phosphodiesterase 1
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IEP
|
mRNA:increased expression:aorta (rat)
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RGD |
PMID:22659116 |
RGD:12914785 |
NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044
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G
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Gata5
|
GATA binding protein 5
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|
ISO
|
ClinVar Annotator: match by term: Aortic valve disease 1
|
ClinVar |
PMID:25741868 PMID:28387797 PMID:28492532 PMID:30675029 |
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NCBI chr 3:187,796,140...187,804,327
Ensembl chr 3:187,796,142...187,804,327
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G
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Il6
|
interleukin 6
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severity
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ISO
|
|
RGD |
PMID:23969418 |
RGD:12792206 |
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
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G
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Notch1
|
notch receptor 1
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|
ISO
|
DNA:nonsense mutation, deletion:cds:p.R1108X, p.H1505Xfs (human) ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar Annotator: match by term: NOTCH1-related condition
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ClinVar OMIM RGD |
PMID:9536098 PMID:15472075 PMID:15712195 PMID:16025100 PMID:16614245 PMID:16729972 PMID:17576681 PMID:17662764 PMID:18593716 PMID:19245433 PMID:19635999 PMID:20951801 PMID:20981092 PMID:21457232 PMID:21670202 PMID:22077063 PMID:22210878 PMID:22858860 PMID:23086750 PMID:23578328 PMID:23734977 PMID:23798201 PMID:24033266 PMID:24418111 PMID:24728327 PMID:24943832 PMID:25104330 PMID:25132448 PMID:25260786 PMID:25326637 PMID:25500235 PMID:25587027 PMID:25741868 PMID:25907466 PMID:25931334 PMID:25963545 PMID:26178433 PMID:26188975 PMID:26580448 PMID:26699486 PMID:26708639 PMID:26820064 PMID:26837699 PMID:26893459 PMID:27283355 PMID:27760138 PMID:27989580 PMID:27993330 PMID:28074886 PMID:28387797 PMID:28492532 PMID:28659821 PMID:28963436 PMID:28991257 PMID:29555671 PMID:29641532 PMID:29907982 PMID:29924900 PMID:30059548 PMID:30115950 PMID:30255099 PMID:30511478 PMID:30582441 PMID:30609409 PMID:30675029 PMID:31624253 PMID:31633846 PMID:31654484 PMID:31866570 PMID:32154576 PMID:32748548 PMID:33064175 PMID:33110418 PMID:33208564 PMID:33726816 PMID:33914609 PMID:33994118 PMID:34498425 PMID:35101336 PMID:35288444 PMID:36973604 PMID:37198425 PMID:37239988 PMID:38778082 PMID:16025100 More...
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RGD:1580758 |
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613
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G
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Smad6
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SMAD family member 6
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|
ISO
|
ClinVar Annotator: match by term: Aortic valve disease 1
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ClinVar |
PMID:28492532 PMID:30796334 |
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NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:73,345,460...73,414,149
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G
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Tbx20
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T-box transcription factor 20
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|
ISO
|
ClinVar Annotator: match by term: Aortic valve disease 1
|
ClinVar |
PMID:15901664 PMID:19762328 PMID:25625280 PMID:25741868 PMID:26118961 PMID:27510170 PMID:27642787 PMID:28492532 PMID:28553164 PMID:30820038 More...
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NCBI chr 8:31,475,963...31,534,051
Ensembl chr 8:31,475,963...31,534,009
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|
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G
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Abcc6
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ATP binding cassette subfamily C member 6
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ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:25758222 |
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NCBI chr 1:105,583,681...105,637,895
Ensembl chr 1:105,583,682...105,637,895
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G
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Enpp1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
ISO ISS
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DNA:missense mutations:cds:p.G342V, p.Y371F (human) ClinVar Annotator: match by term: Idiopathic Infantile Arterial Calcification | ClinVar Annotator: match by term: Idiopathic infantile arterial calcification OMIM:208000 | OMIM:614473 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.V246D (mouse) DNA:mutations:multiple (human) DNA:missense mutations, nonsense mutations, frameshift mutation:cds:multiple (human)
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ClinVar MouseDO CTD RGD |
PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15605415 PMID:16025115 PMID:16315058 PMID:16369898 PMID:16607460 PMID:16609882 PMID:16968801 PMID:18950909 PMID:19206175 PMID:20016754 PMID:20137773 PMID:20981035 PMID:22209248 PMID:22539483 PMID:24033266 PMID:25741868 PMID:27238374 PMID:27467858 PMID:28377967 PMID:28492532 PMID:28973083 PMID:29141319 PMID:29244957 PMID:29979387 PMID:33005041 PMID:34609116 PMID:35738466 PMID:15940697 PMID:23798568 PMID:20016754 PMID:12881724 More...
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RGD:1601044, RGD:13204734, RGD:6906932, RGD:731203 |
NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044
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G
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Amelx
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amelogenin, X-linked
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IEP
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RGD |
PMID:15721149 |
RGD:1599092 |
NCBI chr X:28,648,803...28,660,099
Ensembl chr X:28,648,803...28,660,099
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G
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Bglap
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bone gamma-carboxyglutamate protein
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IEP
|
|
RGD |
PMID:2106357 |
RGD:6483581 |
NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:176,136,341...176,137,318
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G
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Casr
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calcium-sensing receptor
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ISO
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DNA:missense mutation:cds:p.E128A (human) ClinVar Annotator: match by term: Autosomal dominant hypocalcemia DNA:missense mutation:cds:p.T151M (human) DNA:missense mutation:cds:p.L723Q (mouse) DNA:missense mutations:cds:multiple (human)
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ClinVar RGD |
PMID:8675635 PMID:8878438 PMID:9039332 PMID:11136551 PMID:11701698 PMID:12067826 PMID:12574188 PMID:12733714 PMID:14519094 PMID:17039419 PMID:17698911 PMID:19179454 PMID:20119591 PMID:20668040 PMID:21441391 PMID:21645025 PMID:22422767 PMID:22789683 PMID:22798347 PMID:24133354 PMID:24297799 PMID:24823460 PMID:24948345 PMID:25137426 PMID:25420019 PMID:25741868 PMID:26467025 PMID:26963950 PMID:28492532 PMID:29375828 PMID:29846619 PMID:30470382 PMID:30496603 PMID:33144682 PMID:34913197 PMID:7874174 PMID:20501971 PMID:15347804 PMID:8813042 More...
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RGD:1598940, RGD:7205656, RGD:7205497, RGD:7204717 |
NCBI chr11:77,738,398...77,813,639
Ensembl chr11:77,740,614...77,810,167
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G
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Cyp27b1
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cytochrome P450, family 27, subfamily b, polypeptide 1
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ISO
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RGD |
PMID:11416220 |
RGD:734871 |
NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:64,756,626...64,761,570
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G
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Pth
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parathyroid hormone
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IEP
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protein:increased expression:serum (rat)
|
RGD |
PMID:22581996 |
RGD:7242904 |
NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034
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|
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G
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Casr
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calcium-sensing receptor
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susceptibility
|
ISS ISO
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OMIM:601198 ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 | ClinVar Annotator: match by term: HYPOCALCEMIA, FAMILIAL
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MouseDO OMIM ClinVar |
PMID:791660 PMID:1302026 PMID:1706284 PMID:7054696 PMID:7726161 PMID:7791841 PMID:7874174 PMID:7916660 PMID:8636323 PMID:8675635 PMID:8698326 PMID:8702647 PMID:8733126 PMID:8813042 PMID:8878438 PMID:9011580 PMID:9039332 PMID:9253358 PMID:9380434 PMID:9422777 PMID:9536098 PMID:9661634 PMID:9920108 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10487661 PMID:10770217 PMID:10885494 PMID:10912749 PMID:10912782 PMID:10935495 PMID:11013439 PMID:11089548 PMID:11102444 PMID:11136551 PMID:11152759 PMID:11161843 PMID:11248745 PMID:11580999 PMID:11701698 PMID:11733622 PMID:11807402 PMID:11889203 PMID:12018449 PMID:12040821 PMID:12050233 PMID:12052452 PMID:12067826 PMID:12095982 PMID:12107202 PMID:12114500 PMID:12162500 PMID:12191970 PMID:12239240 PMID:12241879 PMID:12297503 PMID:12574188 PMID:12574201 PMID:12733714 PMID:12890593 PMID:12915654 PMID:14508624 PMID:14519094 PMID:14985373 PMID:14997007 PMID:15201280 PMID:15292296 PMID:15531522 PMID:15572418 PMID:15591042 PMID:15598778 PMID:15699544 PMID:15751724 PMID:15864123 PMID:15879434 PMID:16128246 PMID:16333828 PMID:16497624 PMID:16608894 PMID:16649980 PMID:17018660 PMID:17039419 PMID:17117288 PMID:17284438 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17473068 PMID:17478419 PMID:17555508 PMID:17576681 PMID:17698911 PMID:18328986 PMID:18680227 PMID:18751724 PMID:18756473 PMID:18796518 PMID:18938753 PMID:19179454 PMID:19389809 PMID:19694204 PMID:19759318 PMID:19779033 PMID:20119591 PMID:20164288 PMID:20495831 PMID:20501971 PMID:20602573 PMID:20668040 PMID:21239511 PMID:21289269 PMID:21414629 PMID:21441391 PMID:21521328 PMID:21645025 PMID:22024717 PMID:22142470 PMID:22192860 PMID:22422767 PMID:22789683 PMID:22798347 PMID:23077345 PMID:23169696 PMID:23186954 PMID:23372019 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24244430 PMID:24297799 PMID:24517148 PMID:24823460 PMID:24854525 PMID:24947037 PMID:24948345 PMID:25071082 PMID:25091521 PMID:25137426 PMID:25292184 PMID:25326635 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 PMID:26107257 PMID:26161261 PMID:26166472 PMID:26323216 PMID:26467025 PMID:26646938 PMID:26963950 PMID:27157104 PMID:27390877 PMID:27666534 PMID:27739473 PMID:27957351 PMID:28176280 PMID:28492532 PMID:29846619 PMID:29848507 PMID:30019023 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30895164 PMID:31189130 PMID:31433865 PMID:31433868 PMID:31672324 PMID:31763346 PMID:31883284 PMID:32306059 PMID:32347971 PMID:32386559 PMID:32430905 PMID:33112267 PMID:34008892 PMID:34088669 PMID:34913197 PMID:35242665 PMID:35300448 PMID:35402765 PMID:35459864 PMID:35818129 PMID:35957908 PMID:36090548 PMID:36135330 PMID:36964972 PMID:36998475 PMID:37371242 PMID:37654565 More...
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NCBI chr11:77,738,398...77,813,639
Ensembl chr11:77,740,614...77,810,167
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G
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Gna11
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G protein subunit alpha 11
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ISO ISS
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ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 2 | ClinVar Annotator: match by term: GNA11-related condition OMIM:615361
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OMIM ClinVar MouseDO |
PMID:6278146 PMID:23802516 PMID:23802536 PMID:24823460 PMID:25741868 PMID:26994139 PMID:28194446 PMID:28492532 PMID:36970776 More...
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NCBI chr 7:8,814,285...8,828,628
Ensembl chr 7:8,814,327...8,830,558
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G
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Casr
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calcium-sensing receptor
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
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CTD ClinVar |
PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 PMID:15005845 PMID:17048213 PMID:24297799 PMID:25506941 PMID:25741868 PMID:25967373 PMID:28492532 PMID:37371242 More...
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NCBI chr11:77,738,398...77,813,639
Ensembl chr11:77,740,614...77,810,167
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G
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Fgf23
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fibroblast growth factor 23
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ISO ISS
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DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human) ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT OMIM:193100 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:526C>T,p.R176W (human)
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ClinVar MouseDO CTD OMIM RGD |
PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 PMID:12130585 PMID:12711740 PMID:12851820 PMID:12874285 PMID:15182416 PMID:15590700 PMID:15628294 PMID:15687325 PMID:15836777 PMID:15885032 PMID:16436388 PMID:17227222 PMID:17452648 PMID:17623664 PMID:17992255 PMID:18682534 PMID:18982401 PMID:19837926 PMID:21880793 PMID:22419710 PMID:24033266 PMID:25445451 PMID:25741868 PMID:26186302 PMID:26467025 PMID:28492532 PMID:29389098 PMID:31486862 PMID:32415663 PMID:35738466 PMID:11062477 PMID:19655082 More...
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RGD:1598933, RGD:10044239 |
NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:161,600,383...161,609,991
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G
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Phex
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phosphate regulating endopeptidase X-linked
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ISO
|
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets
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ClinVar |
PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 PMID:16055933 PMID:19219621 PMID:21902834 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32329911 More...
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NCBI chr X:41,422,561...41,671,226
Ensembl chr X:41,426,101...41,671,226
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G
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Dmp1
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dentin matrix acidic phosphoprotein 1
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|
ISS ISO
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OMIM:241520 | OMIM:613312 ClinVar Annotator: match by term: DMP1-related condition | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
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MouseDO ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:5,833,111...5,867,154
Ensembl chr14:5,833,111...5,843,993
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G
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Enpp1
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ectonucleotide pyrophosphatase/phosphodiesterase 1
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ISO
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ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
|
ClinVar |
PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044
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G
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Myorg
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myogenesis regulating glycosidase
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ISS
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OMIM:114100 | OMIM:213600 | OMIM:615007 | OMIM:615483
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MouseDO |
|
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NCBI chr 5:61,452,956...61,460,500
Ensembl chr 5:61,432,418...61,460,581
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G
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Pdgfrb
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platelet derived growth factor receptor beta
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ISS
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OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483
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MouseDO |
|
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NCBI chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233
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G
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Slc20a2
|
solute carrier family 20 member 2
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ISS
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OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483
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MouseDO |
|
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NCBI chr16:76,163,315...76,253,881
Ensembl chr16:76,162,922...76,253,881
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|
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G
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Akt1
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AKT serine/threonine kinase 1
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:23308213 |
|
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:137,535,390...137,552,610
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G
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Cd40lg
|
CD40 ligand
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treatment
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IDA
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|
RGD |
PMID:24374105 |
RGD:11352276 |
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:140,164,302...140,176,475
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G
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Dll4
|
delta like canonical Notch ligand 4
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ameliorates
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ISO
|
|
RGD |
PMID:22699504 |
RGD:155641244 |
NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:126,770,794...126,780,763
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G
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Hspd1
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heat shock protein family D (Hsp60) member 1
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severity
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ISO
|
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RGD |
PMID:15120829 |
RGD:12910476 |
NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:64,073,611...64,084,037
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G
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Meis2
|
Meis homeobox 2
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|
ISO
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mRNA,protein:decreased expression:aortic valve:
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RGD |
PMID:30594396 |
RGD:155598679 |
NCBI chr 3:123,197,066...123,399,002
Ensembl chr 3:123,197,066...123,397,751
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G
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Notch1
|
notch receptor 1
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|
ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16025100 |
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NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613
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G
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Ptgs2
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prostaglandin-endoperoxide synthase 2
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disease_progression
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ISO
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protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells
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RGD |
PMID:25722432 PMID:25722432 |
RGD:13207434, RGD:13207434 |
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320
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G
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Pth
|
parathyroid hormone
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disease_progression
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IEP
|
protein:increased expression:serum (rat)
|
RGD |
PMID:22634235 |
RGD:7242900 |
NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034
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G
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Ptpn1
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protein tyrosine phosphatase, non-receptor type 1
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ISO
|
protein:increased expression:aortic valve (human)
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RGD |
PMID:35958694 |
RGD:401976381 |
NCBI chr 3:177,056,588...177,106,424
Ensembl chr 3:177,057,659...177,106,416
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G
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Slc20a1
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solute carrier family 20 member 1
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:23308213 |
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NCBI chr 3:136,880,360...136,894,255
Ensembl chr 3:136,880,290...136,894,249
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G
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Tp53
|
tumor protein p53
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:29358327 |
|
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
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|
|
G
|
Ahsg
|
alpha-2-HS-glycoprotein
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16177000 |
|
NCBI chr11:91,625,975...91,632,583
Ensembl chr11:91,625,975...91,634,039
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|
G
|
Alpl
|
alkaline phosphatase, biomineralization associated
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21193197 |
|
NCBI chr 5:155,234,770...155,289,785
Ensembl chr 5:155,234,775...155,254,167
|
|
G
|
Bglap
|
bone gamma-carboxyglutamate protein
|
|
ISO
|
associated with hypertension;protein:undercarboxylated:serum CTD Direct Evidence: marker/mechanism protein:increased expression:dermis:
|
CTD RGD |
PMID:21335463 PMID:20197689 PMID:18422975 |
RGD:6483566, RGD:9068449 |
NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:176,136,341...176,137,318
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|
G
|
Bmp2
|
bone morphogenetic protein 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:30963258 PMID:31843813 |
|
NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:141,264,646...141,274,760
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|
G
|
Bmp4
|
bone morphogenetic protein 4
|
|
ISO
|
protein:increased expression:dermis:
|
RGD |
PMID:18422975 |
RGD:9068449 |
NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172
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|
G
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C6
|
complement C6
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21335463 |
|
NCBI chr 2:55,573,596...55,648,857
Ensembl chr 2:55,573,653...55,649,120
|
|
G
|
Casp3
|
caspase 3
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21335463 |
|
NCBI chr16:52,395,539...52,413,794
Ensembl chr16:52,395,540...52,413,732
|
|
G
|
Ccl2
|
C-C motif chemokine ligand 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21193197 PMID:21335463 |
|
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
|
|
G
|
Ccl9
|
C-C motif chemokine ligand 9
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21335463 |
|
NCBI chr10:68,863,994...68,868,928
Ensembl chr10:68,863,995...68,868,877
|
|
G
|
Col18a1
|
collagen type XVIII alpha 1 chain
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21335463 |
|
NCBI chr20:11,473,645...11,582,111
Ensembl chr20:11,473,645...11,582,112
|
|
G
|
Col1a1
|
collagen type I alpha 1 chain
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21335463 |
|
NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460
|
|
G
|
Ctc1
|
CST telomere replication complex component 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:22267198 |
|
NCBI chr10:54,212,537...54,234,146
Ensembl chr10:54,207,083...54,234,147
|
|
G
|
Ctnnb1
|
catenin beta 1
|
|
ISO
|
protein:increased expression:dermis:
|
RGD |
PMID:18422975 |
RGD:9068449 |
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662
|
|
G
|
Dmd
|
dystrophin
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:18340010 |
|
NCBI chr X:51,070,098...53,437,845
Ensembl chr X:51,070,273...53,437,835
|
|
G
|
Epo
|
erythropoietin
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:12148126 |
|
NCBI chr12:24,841,285...24,844,725
Ensembl chr12:24,841,285...24,844,725
|
|
G
|
Erbb2
|
erb-b2 receptor tyrosine kinase 2
|
|
ISO
|
associated with Breast Neoplasms;protein:increased expression:breast
|
RGD |
PMID:18256879 |
RGD:2289923 |
NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,907,460...83,931,481
|
|
G
|
Fcgr1a
|
Fc gamma receptor 1A
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21335463 |
|
NCBI chr 2:186,539,941...186,548,941
Ensembl chr 2:186,539,942...186,548,858
|
|
G
|
Fgf23
|
fibroblast growth factor 23
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:17710231 |
|
NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:161,600,383...161,609,991
|
|
G
|
Galnt3
|
polypeptide N-acetylgalactosaminyltransferase 3
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:17710231 |
|
NCBI chr 3:71,150,559...71,187,321
Ensembl chr 3:71,150,571...71,174,323
|
|
G
|
Gpx1
|
glutathione peroxidase 1
|
susceptibility
|
ISO
|
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P197L (human)
|
RGD |
PMID:17825092 |
RGD:2306608 |
NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:117,905,280...117,906,581
|
|
G
|
Il18
|
interleukin 18
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21335463 |
|
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286
|
|
G
|
Il1b
|
interleukin 1 beta
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21335463 |
|
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
|
|
G
|
Itgb1
|
integrin subunit beta 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:18340010 |
|
NCBI chr19:73,602,277...73,650,271
Ensembl chr19:73,602,126...73,650,269
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|
G
|
Itgb2
|
integrin subunit beta 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21335463 |
|
NCBI chr20:11,061,009...11,097,242
Ensembl chr20:11,058,492...11,097,182
|
|
G
|
Jak2
|
Janus kinase 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21335463 |
|
NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:236,408,662...236,468,762
|
|
G
|
Kl
|
Klotho
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:17710231 |
|
NCBI chr12:5,326,003...5,367,016
Ensembl chr12:5,325,959...5,367,015
|
|
G
|
Lcn2
|
lipocalin 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21335463 |
|
NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:36,078,436...36,081,842
|
|
G
|
Lsp1
|
lymphocyte-specific protein 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21335463 |
|
NCBI chr 1:207,044,157...207,077,891
Ensembl chr 1:207,044,159...207,077,893
|
|
G
|
Ly86
|
lymphocyte antigen 86
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21335463 |
|
NCBI chr17:27,621,313...27,705,336
Ensembl chr17:27,621,313...27,692,743
|
|
G
|
Mgp
|
matrix Gla protein
|
|
ISO
|
|
RGD |
PMID:15045141 |
RGD:1582501 |
NCBI chr 4:171,497,472...171,500,888
Ensembl chr 4:171,497,471...171,500,859
|
|
G
|
Mmp2
|
matrix metallopeptidase 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:15545515 PMID:21193197 |
|
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856
|
|
G
|
Mmp9
|
matrix metallopeptidase 9
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:15545515 PMID:21193197 |
|
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442
|
|
G
|
Notch1
|
notch receptor 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:22110751 |
|
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613
|
|
G
|
Nr1i2
|
nuclear receptor subfamily 1, group I, member 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:30963258 |
|
NCBI chr11:75,965,717...76,006,733
Ensembl chr11:75,965,632...76,002,380
|
|
G
|
Pdgfb
|
platelet derived growth factor subunit B
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:25938945 |
|
NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:113,420,710...113,438,343
|
|
G
|
Pdgfrb
|
platelet derived growth factor receptor beta
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:25938945 |
|
NCBI chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233
|
|
G
|
Pomc
|
proopiomelanocortin
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:6143199 |
|
NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173
|
|
G
|
Ptpn6
|
protein tyrosine phosphatase, non-receptor type 6
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21335463 |
|
NCBI chr 4:159,212,320...159,237,069
Ensembl chr 4:159,212,320...159,237,069
|
|
G
|
Pycard
|
PYD and CARD domain containing
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21335463 |
|
NCBI chr 1:192,032,124...192,033,419
Ensembl chr 1:192,032,124...192,033,419
|
|
G
|
Ripk3
|
receptor-interacting serine-threonine kinase 3
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21335463 |
|
NCBI chr15:33,253,071...33,262,025
Ensembl chr15:33,253,071...33,262,025
|
|
G
|
Slc20a2
|
solute carrier family 20 member 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:25938945 |
|
NCBI chr16:76,163,315...76,253,881
Ensembl chr16:76,162,922...76,253,881
|
|
G
|
Slc22a6
|
solute carrier family 22 member 6
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:12803500 |
|
NCBI chr 1:214,951,493...214,960,317
Ensembl chr 1:214,951,867...214,960,311
|
|
G
|
Snai2
|
snail family transcriptional repressor 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:29358327 |
|
NCBI chr11:99,686,934...99,690,349
Ensembl chr11:99,686,934...99,690,349
|
|
G
|
Sparc
|
secreted protein acidic and cysteine rich
|
|
ISO
|
protein:increased expression:dermis:
|
RGD |
PMID:18422975 |
RGD:9068449 |
NCBI chr10:40,017,065...40,038,816
Ensembl chr10:40,017,075...40,039,268
|
|
G
|
Spn
|
sialophorin
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21335463 |
|
NCBI chr 1:191,177,449...191,190,115
Ensembl chr 1:191,178,096...191,187,852
|
|
G
|
Spp1
|
secreted phosphoprotein 1
|
|
IEP ISO
|
CTD Direct Evidence: marker/mechanism protein:increased expression:dermis:
|
CTD RGD |
PMID:21193197 PMID:21335463 PMID:18390899 PMID:18422975 |
RGD:6903869, RGD:9068449 |
NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,613,576...5,619,820
|
|
G
|
Tgfb1
|
transforming growth factor, beta 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:24142982 |
|
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899
|
|
G
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Timp1
|
TIMP metallopeptidase inhibitor 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:21335463 |
|
NCBI chr X:3,766,509...3,772,578
Ensembl chr X:3,766,510...3,771,135
|
|
G
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Timp2
|
TIMP metallopeptidase inhibitor 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:24142982 |
|
NCBI chr10:104,041,604...104,089,214
Ensembl chr10:104,041,604...104,089,214
|
|
G
|
Tnf
|
tumor necrosis factor
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:30963258 |
|
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
|
|
G
|
Tp53
|
tumor protein p53
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:29358327 |
|
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
|
|
G
|
Xpr1
|
xenotropic and polytropic retrovirus receptor 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:25938945 |
|
NCBI chr13:69,991,517...70,136,249
Ensembl chr13:69,996,692...70,136,164
|
|
|
G
|
Ctc1
|
CST telomere replication complex component 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coats plus syndrome
|
CTD ClinVar |
PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 PMID:25182133 PMID:25741868 PMID:28492532 PMID:30891747 More...
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|
NCBI chr10:54,212,537...54,234,146
Ensembl chr10:54,207,083...54,234,147
|
|
G
|
Stn1
|
STN1 subunit of CST complex
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
|
|
NCBI chr 1:256,336,916...256,371,143
Ensembl chr 1:256,315,367...256,370,736
|
|
|
G
|
Ctc1
|
CST telomere replication complex component 1
|
|
ISO
|
ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1
|
OMIM ClinVar |
PMID:2411576 PMID:3057194 PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23220793 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25197929 PMID:25741868 PMID:25843205 PMID:28492532 PMID:28864049 PMID:29111009 PMID:29146883 PMID:29228254 PMID:29481669 PMID:30523342 PMID:30891747 PMID:31069529 PMID:32483926 PMID:33510405 PMID:33528536 PMID:34573280 PMID:34706368 PMID:35982159 PMID:37216690 More...
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|
NCBI chr10:54,212,537...54,234,146
Ensembl chr10:54,207,083...54,234,147
|
|
G
|
Pfas
|
phosphoribosylformylglycinamidine synthase
|
|
ISO
|
ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1
|
ClinVar |
PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 PMID:29481669 More...
|
|
NCBI chr10:54,189,157...54,210,685
Ensembl chr10:54,189,157...54,207,272
|
|
|
G
|
Stn1
|
STN1 subunit of CST complex
|
|
ISO
|
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition
|
OMIM ClinVar |
PMID:25741868 PMID:27432940 PMID:28492532 PMID:28934486 PMID:32135276 |
|
NCBI chr 1:256,336,916...256,371,143
Ensembl chr 1:256,315,367...256,370,736
|
|
|
G
|
Pot1
|
protection of telomeres 1
|
|
ISO
|
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3
|
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:24686846 PMID:25482530 PMID:25741868 PMID:26467025 PMID:27013236 PMID:27329137 PMID:28492532 PMID:28853721 PMID:29036293 PMID:29523635 PMID:29625052 PMID:30523342 PMID:32155570 PMID:32976206 PMID:34193977 PMID:36539277 PMID:36876055 More...
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|
NCBI chr 4:55,170,821...55,228,588
Ensembl chr 4:55,170,821...55,228,543
|
|
|
G
|
Enpp1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
susceptibility
|
ISO
|
ClinVar Annotator: match by term: Cole disease | ClinVar Annotator: match by term: GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION
|
ClinVar OMIM |
PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15605415 PMID:16025115 PMID:16315058 PMID:16369898 PMID:16607460 PMID:16609882 PMID:16968801 PMID:18950909 PMID:19380683 PMID:20016754 PMID:20137773 PMID:20981035 PMID:22539483 PMID:24033266 PMID:24075184 PMID:25741868 PMID:27238374 PMID:27467858 PMID:28377967 PMID:28492532 PMID:28973083 PMID:29244957 PMID:29979387 PMID:33005041 PMID:35738466 More...
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|
NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044
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|
|
G
|
Phactr1
|
phosphatase and actin regulator 1
|
|
ISO
|
DNA:SNP:intron:g.13011943A>G (rs9349379) (human) associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human) DNA:SNP:intron: (rs12526453) (human)
|
RGD |
PMID:23394302 PMID:34241534 PMID:26789557 PMID:23561647 |
RGD:11058683, RGD:401901247, RGD:11054804, RGD:11057923 |
NCBI chr17:21,769,006...22,246,227
Ensembl chr17:21,768,662...22,244,586
|
|
G
|
Tnfrsf11b
|
TNF receptor superfamily member 11B
|
severity
|
ISO
|
associated with Kidney Failure, Chronic
|
RGD |
PMID:22943310 |
RGD:7205482 |
NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:87,456,319...87,485,075
|
|
|
G
|
Cenpc
|
centromere protein C
|
|
ISO
|
associated with Anticentromere antibody positivity
|
RGD |
PMID:25220385 |
RGD:27372886 |
NCBI chr14:22,342,910...22,401,522
Ensembl chr14:22,342,927...22,438,590
|
|
G
|
Fbn1
|
fibrillin 1
|
|
ISO
|
|
RGD |
PMID:10395706 |
RGD:12910471 |
NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283
|
|
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G
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Slc29a1
|
solute carrier family 29 member 1
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ISS
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OMIM:106400
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MouseDO |
|
|
NCBI chr 9:22,897,099...22,911,640
Ensembl chr 9:22,902,471...22,914,620
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G
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Adcy5
|
adenylate cyclase 5
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|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:78,976,861...79,123,343
Ensembl chr11:78,976,861...79,123,343
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G
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Casr
|
calcium-sensing receptor
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|
ISO
|
ClinVar Annotator: match by term: Familial benign hypercalcemia | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
|
ClinVar |
PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2476381 PMID:2983592 PMID:3237971 PMID:3966479 PMID:6543841 PMID:7054696 PMID:7673400 PMID:7717399 PMID:7726161 PMID:7791841 PMID:7874174 PMID:7916660 PMID:8132750 PMID:8636323 PMID:8675635 PMID:8698326 PMID:8702647 PMID:8733126 PMID:8813042 PMID:8878438 PMID:9011580 PMID:9039332 PMID:9109436 PMID:9217223 PMID:9253359 PMID:9380434 PMID:9395465 PMID:9422777 PMID:9507434 PMID:9536098 PMID:9661634 PMID:9801147 PMID:10023897 PMID:10077597 PMID:10206973 PMID:10217111 PMID:10217436 PMID:10468915 PMID:10488104 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 PMID:10935495 PMID:10971459 PMID:11013439 PMID:11069904 PMID:11089548 PMID:11102444 PMID:11136551 PMID:11161843 PMID:11231970 PMID:11248745 PMID:11580999 PMID:11668634 PMID:11701698 PMID:11733622 PMID:11762699 PMID:11763315 PMID:11807402 PMID:11889154 PMID:11889203 PMID:12018449 PMID:12040821 PMID:12052452 PMID:12067826 PMID:12095982 PMID:12107202 PMID:12114500 PMID:12162500 PMID:12191970 PMID:12239240 PMID:12241879 PMID:12297503 PMID:12469911 PMID:12574188 PMID:12574201 PMID:12580936 PMID:12733714 PMID:12890593 PMID:14089114 PMID:14508624 PMID:14519094 PMID:14714270 PMID:14985373 PMID:14997007 PMID:15201280 PMID:15241688 PMID:15292296 PMID:15531522 PMID:15551332 PMID:15572418 PMID:15579740 PMID:15591042 PMID:15598778 PMID:15699544 PMID:15751724 PMID:15864123 PMID:15879434 PMID:15888439 PMID:15963484 PMID:16128246 PMID:16147994 PMID:16199547 PMID:16333828 PMID:16491288 PMID:16497624 PMID:16598859 PMID:16642557 PMID:16649980 PMID:16740594 PMID:16918956 PMID:17018660 PMID:17039419 PMID:17117288 PMID:17121537 PMID:17284438 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17473068 PMID:17478419 PMID:17555508 PMID:17576681 PMID:17698911 PMID:17803689 PMID:17974727 PMID:17979873 PMID:18219222 PMID:18296474 PMID:18328986 PMID:18410554 PMID:18556971 PMID:18680227 PMID:18751724 PMID:18756473 PMID:18796518 PMID:18830196 PMID:18887540 PMID:18938753 PMID:19073830 PMID:19102677 PMID:19179454 PMID:19389809 PMID:19423559 PMID:19549694 PMID:19694204 PMID:19759318 PMID:19763152 PMID:19779033 PMID:19789209 PMID:19953642 PMID:20034274 PMID:20119591 PMID:20164288 PMID:20307669 PMID:20335782 PMID:20335783 PMID:20374733 PMID:20495831 PMID:20501971 PMID:20602573 PMID:20668040 PMID:20697181 PMID:20798521 PMID:20972686 PMID:21135065 PMID:21175100 PMID:21185797 PMID:21239511 PMID:21289269 PMID:21310873 PMID:21369680 PMID:21414629 PMID:21441391 PMID:21471599 PMID:21521328 PMID:21566074 PMID:21645025 PMID:21844754 PMID:22024717 PMID:22142470 PMID:22187299 PMID:22192860 PMID:22232026 PMID:22331334 PMID:22406018 PMID:22422767 PMID:22620673 PMID:22789683 PMID:22798347 PMID:23077345 PMID:23081733 PMID:23169696 PMID:23186954 PMID:23372019 PMID:23764372 PMID:23856262 PMID:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24244430 PMID:24297799 PMID:24394414 PMID:24517148 PMID:24735972 PMID:24763815 PMID:24823460 PMID:24854525 PMID:24947037 PMID:24948345 PMID:25039540 PMID:25045523 PMID:25071082 PMID:25091521 PMID:25104082 PMID:25137426 PMID:25292184 PMID:25320261 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 PMID:25765207 PMID:25766501 PMID:25792032 PMID:25828954 PMID:25967373 PMID:25977473 PMID:25985138 PMID:26107257 PMID:26161261 PMID:26166472 PMID:26290606 PMID:26323216 PMID:26467025 PMID:26646938 PMID:26855056 PMID:26963950 PMID:27086061 PMID:27157104 PMID:27390877 PMID:27418061 PMID:27434672 PMID:27666534 PMID:27739473 PMID:27957351 PMID:28176280 PMID:28492532 PMID:28870973 PMID:29026550 PMID:29273096 PMID:29354167 PMID:29375828 PMID:29743878 PMID:29846619 PMID:29848507 PMID:29899992 PMID:30019023 PMID:30052933 PMID:30306783 PMID:30376845 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30857752 PMID:30895164 PMID:31063613 PMID:31189130 PMID:31328266 PMID:31433865 PMID:31433868 PMID:31672324 PMID:31763346 PMID:31883284 PMID:31967040 PMID:32150253 PMID:32160303 PMID:32306059 PMID:32347971 PMID:32375028 PMID:32386559 PMID:32430905 PMID:32537548 PMID:32593617 PMID:32638038 PMID:32761341 PMID:32775520 PMID:32843465 PMID:32871939 PMID:32892159 PMID:33094630 PMID:33112267 PMID:33144682 PMID:33147586 PMID:33179231 PMID:33258288 PMID:33434173 PMID:33748353 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34160437 PMID:34194040 PMID:34659108 PMID:34714514 PMID:34772415 PMID:34805638 PMID:34887979 PMID:34906475 PMID:34913197 PMID:34993031 PMID:35141253 PMID:35242665 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35402765 PMID:35459864 PMID:35571021 PMID:35586626 PMID:35733207 PMID:35818129 PMID:35957908 PMID:36090548 PMID:36135330 PMID:36413997 PMID:36964972 PMID:36998475 PMID:37371242 PMID:37602721 PMID:37654565 PMID:38038882 PMID:38214877 PMID:38544324 PMID:38586466 More...
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NCBI chr11:77,738,398...77,813,639
Ensembl chr11:77,740,614...77,810,167
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G
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Ccdc14
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coiled-coil domain containing 14
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|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
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ClinVar |
PMID:28492532 |
|
NCBI chr11:79,557,267...79,593,128
Ensembl chr11:79,557,274...79,593,285
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|
G
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Cd86
|
CD86 molecule
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|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
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ClinVar |
PMID:28492532 |
|
NCBI chr11:77,647,565...77,706,178
Ensembl chr11:77,647,600...77,725,361
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G
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Csta
|
cystatin A
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ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
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ClinVar |
PMID:11807402 PMID:20798521 PMID:28492532 |
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NCBI chr11:78,125,813...78,136,818
Ensembl chr11:78,125,800...78,136,822
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G
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Dtx3l
|
deltex E3 ubiquitin ligase 3L
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|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
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ClinVar |
PMID:28492532 |
|
NCBI chr11:78,320,225...78,329,837
Ensembl chr11:78,317,650...78,329,837
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G
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Eaf2
|
ELL associated factor 2
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|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
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ClinVar |
PMID:28492532 |
|
NCBI chr11:77,465,585...77,509,993
Ensembl chr11:77,406,020...77,509,993
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G
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Fam162a
|
family with sequence similarity 162, member A
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|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
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ClinVar |
PMID:28492532 |
|
NCBI chr11:78,186,260...78,215,186
Ensembl chr11:78,185,852...78,216,560
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|
G
|
Grhpr
|
glyoxylate and hydroxypyruvate reductase
|
|
ISO
|
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:64,029,856...64,039,287
Ensembl chr 5:64,022,368...64,039,276
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|
G
|
Hacd2
|
3-hydroxyacyl-CoA dehydratase 2
|
|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:79,175,470...79,268,975
Ensembl chr11:79,175,482...79,268,126
|
|
G
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Heg1
|
heart development protein with EGF-like domains 1
|
|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:80,512,096...80,600,150
Ensembl chr11:80,512,096...80,600,092
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|
G
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Hprt1
|
hypoxanthine phosphoribosyltransferase 1
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|
ISO
|
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
|
ClinVar |
PMID:11018746 PMID:23975452 PMID:25481104 PMID:28492532 |
|
NCBI chr X:137,655,744...137,687,718
Ensembl chr X:137,655,680...137,687,712
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|
G
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Hspbap1
|
HSPB1 associated protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:78,445,376...78,500,034
Ensembl chr11:78,445,376...78,500,034
|
|
G
|
Ildr1
|
immunoglobulin-like domain containing receptor 1
|
|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:77,591,146...77,624,268
Ensembl chr11:77,569,621...77,624,140
|
|
G
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Iqcb1
|
IQ motif containing B1
|
|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:77,410,986...77,465,540
Ensembl chr11:77,410,314...77,465,478
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|
G
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Itgb5
|
integrin subunit beta 5
|
|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:80,333,588...80,449,373
Ensembl chr11:80,333,590...80,449,373
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|
G
|
Kalrn
|
kalirin, RhoGEF kinase
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|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:79,703,345...80,309,210
Ensembl chr11:79,703,366...80,133,329
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|
G
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Kpna1
|
karyopherin subunit alpha 1
|
|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:78,221,165...78,279,778
Ensembl chr11:78,222,884...78,267,067
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|
G
|
Mix23
|
mitochondrial matrix import factor 23
|
|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:78,166,038...78,186,323
Ensembl chr11:78,166,038...78,186,323
|
|
G
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Muc13
|
mucin 13, cell surface associated
|
|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:80,462,350...80,489,773
Ensembl chr11:80,465,737...80,485,474
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|
G
|
Mylk
|
myosin light chain kinase
|
|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:79,288,243...79,535,450
Ensembl chr11:79,288,243...79,535,659
|
|
G
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Ocrl
|
OCRL, inositol polyphosphate-5-phosphatase
|
|
ISO
|
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
|
ClinVar |
PMID:19390221 PMID:21031565 PMID:22381590 PMID:23047739 PMID:25326635 PMID:25480730 PMID:25741868 PMID:26694549 PMID:28492532 PMID:34586410 PMID:35006361 More...
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NCBI chr X:131,955,775...132,018,298
Ensembl chr X:131,967,355...132,018,298
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|
G
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Osbpl11
|
oxysterol binding protein-like 11
|
|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:81,038,759...81,121,887
Ensembl chr11:81,038,985...81,101,299
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G
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Parp14
|
poly (ADP-ribose) polymerase family, member 14
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|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:78,408,134...78,440,201
Ensembl chr11:78,408,058...78,440,195
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G
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Parp9
|
poly (ADP-ribose) polymerase family, member 9
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|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:78,286,282...78,320,409
Ensembl chr11:78,286,287...78,320,608
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G
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Pdia5
|
protein disulfide isomerase family A, member 5
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|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:78,777,436...78,892,370
Ensembl chr11:78,777,419...78,864,329
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|
G
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Prps1
|
phosphoribosyl pyrophosphate synthetase 1
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|
ISO
|
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
|
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr X:108,920,663...108,942,713
Ensembl chr X:108,920,651...108,942,711
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|
G
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Ropn1
|
rhophilin associated tail protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:79,603,053...79,632,344
Ensembl chr11:79,603,055...79,632,344
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|
G
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Sec22a
|
SEC22 homolog A, vesicle trafficking protein
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|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:78,907,552...78,967,575
Ensembl chr11:78,907,470...78,970,447
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|
G
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Sema5b
|
semaphorin 5B
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|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:78,607,805...78,730,724
Ensembl chr11:78,607,805...78,730,589
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|
G
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Slc12a8
|
solute carrier family 12, member 8
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|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:80,622,000...80,771,674
Ensembl chr11:80,622,000...80,771,659
|
|
G
|
Slc15a2
|
solute carrier family 15 member 2
|
|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:77,519,565...77,548,609
Ensembl chr11:77,519,529...77,548,606
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|
G
|
Slc34a3
|
solute carrier family 34 member 3
|
|
ISO
|
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
|
ClinVar |
PMID:25741868 |
|
NCBI chr 3:28,442,455...28,447,997
Ensembl chr 3:28,442,457...28,447,997
|
|
G
|
Slc49a4
|
solute carrier family 49 member 4
|
|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:78,500,918...78,574,205
Ensembl chr11:78,500,960...78,574,202
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|
G
|
Snx4
|
sorting nexin 4
|
|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:80,965,965...81,023,234
Ensembl chr11:80,965,967...81,028,448
|
|
G
|
Umps
|
uridine monophosphate synthetase
|
|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:80,311,269...80,321,678
Ensembl chr11:80,311,214...80,327,828
|
|
G
|
Wdr5b
|
WD repeat domain 5B
|
|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:78,216,266...78,218,125
Ensembl chr11:78,190,355...78,218,501
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|
G
|
Zfp148
|
zinc finger protein 148
|
|
ISO
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:80,780,865...80,890,877
Ensembl chr11:80,786,087...80,890,877
|
|
|
G
|
Casr
|
calcium-sensing receptor
|
susceptibility
|
ISO ISS
|
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1 OMIM:145980 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.A213E (human) DNA:missense mutations:cds:multiple (human) DNA:missense mutations:cds:p.R186E, p.E298K, p.R796W (human)
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OMIM ClinVar MouseDO CTD RGD |
PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2211966 PMID:3237971 PMID:3966479 PMID:5013415 PMID:6543841 PMID:7054696 PMID:7673400 PMID:7717399 PMID:7726161 PMID:7791841 PMID:7874174 PMID:7916660 PMID:8132750 PMID:8636323 PMID:8675635 PMID:8702647 PMID:8813042 PMID:8878438 PMID:9011580 PMID:9039332 PMID:9109436 PMID:9253359 PMID:9395465 PMID:9422777 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10468915 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 PMID:11013439 PMID:11102444 PMID:11136551 PMID:11161843 PMID:11231970 PMID:11248745 PMID:11580999 PMID:11668634 PMID:11701698 PMID:11733622 PMID:11762699 PMID:11763315 PMID:11807402 PMID:11889203 PMID:12018449 PMID:12040821 PMID:12052452 PMID:12067826 PMID:12095982 PMID:12107202 PMID:12114500 PMID:12191970 PMID:12239240 PMID:12469911 PMID:12574188 PMID:12574201 PMID:12580936 PMID:12733714 PMID:12890593 PMID:14089114 PMID:14508624 PMID:14519094 PMID:14714270 PMID:14985373 PMID:14997007 PMID:15201280 PMID:15241688 PMID:15292296 PMID:15531522 PMID:15572418 PMID:15579740 PMID:15591042 PMID:15598778 PMID:15699544 PMID:15751724 PMID:15864123 PMID:15879434 PMID:16147994 PMID:16199547 PMID:16491288 PMID:16497624 PMID:16598859 PMID:16642557 PMID:16649980 PMID:16740594 PMID:17018660 PMID:17039419 PMID:17117288 PMID:17284438 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17473068 PMID:17478419 PMID:17555508 PMID:17698911 PMID:17803689 PMID:17974727 PMID:17979873 PMID:18328986 PMID:18680227 PMID:18751724 PMID:18756473 PMID:18796518 PMID:18830196 PMID:18887540 PMID:18938753 PMID:19073830 PMID:19102677 PMID:19179454 PMID:19389809 PMID:19423559 PMID:19694204 PMID:19696993 PMID:19759318 PMID:19779033 PMID:19953642 PMID:20119591 PMID:20164288 PMID:20290361 PMID:20495831 PMID:20602573 PMID:20668040 PMID:20798521 PMID:20972686 PMID:21239511 PMID:21289269 PMID:21310873 PMID:21369680 PMID:21414629 PMID:21521328 PMID:21645025 PMID:22024717 PMID:22142470 PMID:22192860 PMID:22232026 PMID:22331334 PMID:22422767 PMID:22789683 PMID:22798347 PMID:23077345 PMID:23169696 PMID:23372019 PMID:23764372 PMID:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24297799 PMID:24735972 PMID:24763815 PMID:24823460 PMID:24854525 PMID:24947037 PMID:24948345 PMID:25091521 PMID:25104082 PMID:25137426 PMID:25292184 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 PMID:25765207 PMID:25792032 PMID:25828954 PMID:26107257 PMID:26161261 PMID:26166472 PMID:26467025 PMID:26646938 PMID:26855056 PMID:26963950 PMID:27086061 PMID:27157104 PMID:27434672 PMID:27666534 PMID:27739473 PMID:27957351 PMID:28176280 PMID:28492532 PMID:29026550 PMID:29273096 PMID:29846619 PMID:29848507 PMID:29899992 PMID:30019023 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 PMID:30895164 PMID:31189130 PMID:31433865 PMID:31433868 PMID:31672324 PMID:32347971 PMID:32386559 PMID:32387992 PMID:32430905 PMID:32537548 PMID:32593617 PMID:32638038 PMID:32761341 PMID:32775520 PMID:32843465 PMID:32892159 PMID:33112267 PMID:33147586 PMID:33179231 PMID:33258288 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34772415 PMID:34887979 PMID:34913197 PMID:34993031 PMID:35141253 PMID:35242665 PMID:35300448 PMID:35318962 PMID:35356007 PMID:35586626 PMID:35733207 PMID:35869530 PMID:35957908 PMID:36090548 PMID:36135330 PMID:36964972 PMID:36998475 PMID:37371242 PMID:38214877 PMID:38544324 PMID:38586466 PMID:7493018 PMID:21034470 PMID:7726161 PMID:7916660 More...
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RGD:7205436, RGD:7205499, RGD:7205440, RGD:1600616 |
NCBI chr11:77,738,398...77,813,639
Ensembl chr11:77,740,614...77,810,167
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G
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Gna11
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G protein subunit alpha 11
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ISO
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ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 | ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, type II CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 PMID:26729423 PMID:28194446 PMID:28492532 More...
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NCBI chr 7:8,814,285...8,828,628
Ensembl chr 7:8,814,327...8,830,558
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G
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Ap2s1
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adaptor related protein complex 2 subunit sigma 1
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ISO
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ClinVar Annotator: match by term: AP2S1-related condition | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:1524075 PMID:9536098 PMID:17576681 PMID:19797195 PMID:20133464 PMID:23222959 PMID:24081735 PMID:24731014 PMID:25741868 PMID:26082470 PMID:27050234 PMID:27761240 PMID:27913609 PMID:28492532 PMID:29325022 PMID:29420171 PMID:31723423 More...
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NCBI chr 1:86,545,601...86,557,007
Ensembl chr 1:86,545,350...86,557,009
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G
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Fgf23
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fibroblast growth factor 23
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TAS
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RGD |
PMID:12419819 |
RGD:1303356 |
NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:161,600,383...161,609,991
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G
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Clcn5
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chloride voltage-gated channel 5
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
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NCBI chr X:17,857,260...18,011,844
Ensembl chr X:17,857,260...18,011,844
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G
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Phex
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phosphate regulating endopeptidase X-linked
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets
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CTD ClinVar |
PMID:3414685 PMID:9097956 PMID:9199930 PMID:9430241 PMID:11414762 PMID:11468271 PMID:12727977 PMID:18625346 PMID:18775977 PMID:24684036 PMID:25741868 PMID:28492532 PMID:29858904 More...
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NCBI chr X:41,422,561...41,671,226
Ensembl chr X:41,426,101...41,671,226
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G
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Phyh
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phytanoyl-CoA 2-hydroxylase
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ISO
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ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT
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ClinVar |
PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 PMID:27535533 PMID:28492532 PMID:34426522 More...
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NCBI chr17:78,238,747...78,255,645
Ensembl chr17:78,238,747...78,255,645
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G
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Prss1
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serine protease 1
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ISO
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ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT
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ClinVar |
PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 PMID:10204851 PMID:10514442 PMID:10691414 PMID:10801865 PMID:10835640 PMID:10872414 PMID:10909845 PMID:10982753 PMID:11097832 PMID:11247900 PMID:11312265 PMID:11719509 PMID:11788572 PMID:11842279 PMID:11932257 PMID:11950817 PMID:12011155 PMID:12853682 PMID:15028953 PMID:15776435 PMID:15786540 PMID:16632094 PMID:17204147 PMID:17568390 PMID:18286680 PMID:18511571 PMID:18755888 PMID:19453252 PMID:21415673 PMID:22379635 PMID:22539344 PMID:23143602 PMID:24002981 PMID:24458023 PMID:24525505 PMID:25741868 PMID:27578509 PMID:27673710 PMID:28492532 PMID:28861620 PMID:30420730 More...
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NCBI chr 4:71,331,249...71,334,452
Ensembl chr 4:71,331,246...71,334,452
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G
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Vdr
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vitamin D receptor
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ISO
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ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets | ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT
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ClinVar |
PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 PMID:2849209 PMID:3024987 PMID:8392085 PMID:8675579 PMID:8862631 PMID:8961271 PMID:9005998 PMID:9284761 PMID:9360557 PMID:9495519 PMID:9536098 PMID:10204116 PMID:10707958 PMID:11564167 PMID:15308610 PMID:17130574 PMID:17371163 PMID:17576681 PMID:17970811 PMID:18159135 PMID:18279374 PMID:18593774 PMID:19049339 PMID:19169476 PMID:19682379 PMID:20200114 PMID:21073129 PMID:21168462 PMID:21424181 PMID:21931507 PMID:22145479 PMID:23180655 PMID:24033266 PMID:24246681 PMID:24859502 PMID:25741868 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26787776 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28377956 PMID:28492532 PMID:28620554 PMID:29949513 PMID:30967742 PMID:31557081 PMID:32997713 PMID:35738466 PMID:36705686 PMID:37080976 More...
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NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757
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G
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Ccn2
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cellular communication network factor 2
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ISO
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ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1
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ClinVar |
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NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:22,621,501...22,624,976
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G
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Enpp1
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ectonucleotide pyrophosphatase/phosphodiesterase 1
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susceptibility
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ISO
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ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1
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ClinVar OMIM |
PMID:8960499 PMID:9536098 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11159191 PMID:11739459 PMID:11771660 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15605415 PMID:15677494 PMID:15940697 PMID:16025115 PMID:16315058 PMID:16369898 PMID:16607460 PMID:16609882 PMID:16968801 PMID:17576681 PMID:18950909 PMID:19206175 PMID:19229237 PMID:20016754 PMID:20137773 PMID:20981035 PMID:22209248 PMID:22539483 PMID:23027977 PMID:23041369 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26857895 PMID:27238374 PMID:27467858 PMID:27467859 PMID:28377967 PMID:28492532 PMID:28973083 PMID:29141319 PMID:29244957 PMID:29979387 PMID:31444901 PMID:31646622 PMID:31805212 PMID:31826312 PMID:32573669 PMID:33005041 PMID:33465815 PMID:33914963 PMID:34609116 PMID:34633109 PMID:34906475 PMID:35276006 PMID:35475527 PMID:35482848 PMID:35738466 PMID:35854274 PMID:36150100 More...
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NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044
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G
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Enpp3
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ectonucleotide pyrophosphatase/phosphodiesterase 3
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ISO
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ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1
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ClinVar |
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NCBI chr 1:22,382,717...22,454,324
Ensembl chr 1:22,382,964...22,454,314
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G
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Zfp292
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zinc finger protein 292
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ISO
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ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1
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ClinVar |
PMID:25741868 |
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NCBI chr 5:54,184,174...54,264,454
Ensembl chr 5:54,184,174...54,304,147
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G
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Abcc6
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ATP binding cassette subfamily C member 6
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ISO
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ClinVar Annotator: match by term: ABCC6-related condition | ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 2
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OMIM ClinVar |
PMID:1052196 PMID:1975517 PMID:7662452 PMID:7848420 PMID:8254035 PMID:8268932 PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 PMID:11179012 PMID:11427982 PMID:11439001 PMID:11474653 PMID:11493310 PMID:11536079 PMID:11702217 PMID:11880368 PMID:12176944 PMID:12384774 PMID:12673275 PMID:12707239 PMID:12714611 PMID:12974739 PMID:14631379 PMID:15010274 PMID:15086542 PMID:15098239 PMID:15459974 PMID:15645653 PMID:15723264 PMID:15752294 PMID:15856146 PMID:15894595 PMID:16086317 PMID:16127278 PMID:16199547 PMID:16392638 PMID:16410789 PMID:16541094 PMID:16573612 PMID:16835894 PMID:16854481 PMID:17576681 PMID:17612745 PMID:17617515 PMID:17724214 PMID:18157818 PMID:18253096 PMID:18347285 PMID:18513494 PMID:18800149 PMID:19284998 PMID:19339160 PMID:19726431 PMID:19904211 PMID:20034067 PMID:20075945 PMID:20428263 PMID:20799350 PMID:20801516 PMID:20849526 PMID:21179111 PMID:21239446 PMID:21935449 PMID:22209248 PMID:23483032 PMID:23572048 PMID:23702584 PMID:24008425 PMID:24033266 PMID:24088041 PMID:24352041 PMID:24727260 PMID:25062064 PMID:25264593 PMID:25265166 PMID:25615550 PMID:25741868 PMID:26029710 PMID:26084751 PMID:26383716 PMID:26633545 PMID:26982014 PMID:27133371 PMID:27994049 PMID:28041643 PMID:28102862 PMID:28186352 PMID:28492532 PMID:28655553 PMID:28912966 PMID:29300372 PMID:29722917 PMID:29800625 PMID:30056620 PMID:30154241 PMID:30229859 PMID:30297972 PMID:30328268 PMID:30537162 PMID:30805891 PMID:31164056 PMID:31456290 PMID:31589614 PMID:31847883 PMID:32037395 PMID:32154576 PMID:32270475 PMID:32442430 PMID:32483926 PMID:32818659 PMID:32860008 PMID:32873932 PMID:33005041 PMID:33726816 PMID:33820832 PMID:33946315 PMID:34148116 PMID:34205333 PMID:34426522 PMID:34440381 PMID:34597610 PMID:34906475 PMID:35261845 PMID:35525997 PMID:35869530 PMID:36317459 PMID:36411388 More...
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NCBI chr 1:105,583,681...105,637,895
Ensembl chr 1:105,583,682...105,637,895
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G
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Bcs1l
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BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
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ISO ISS
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ClinVar Annotator: match by term: GRACILE syndrome OMIM:603358 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar MouseDO CTD |
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19162478 PMID:19285991 PMID:19389488 PMID:19508421 PMID:20472482 PMID:20518024 PMID:21274865 PMID:22277166 PMID:22991165 PMID:23892085 PMID:24033266 PMID:24172246 PMID:24236502 PMID:24655110 PMID:24704045 PMID:25741868 PMID:25895478 PMID:25914718 PMID:25954003 PMID:26467025 PMID:26489029 PMID:26563427 PMID:27618451 PMID:27959697 PMID:28105683 PMID:28128857 PMID:28322498 PMID:28427446 PMID:28490743 PMID:28492532 PMID:28496993 PMID:29090881 PMID:30582773 PMID:30634555 PMID:31435670 PMID:32313153 PMID:32552793 PMID:33511646 PMID:34645488 PMID:34662929 PMID:38703036 More...
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NCBI chr 9:83,614,045...83,618,052
Ensembl chr 9:83,613,975...83,618,257
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G
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Lbr
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lamin B receptor
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ISO
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ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia | ClinVar Annotator: match by term: MOTH-EATEN SKELETAL DYSPLASIA DNA:mutations:cds:multiple (human)
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OMIM ClinVar RGD |
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:27336722 PMID:27830109 PMID:27875746 PMID:28492532 PMID:29590070 PMID:29758565 PMID:30448303 PMID:30518689 PMID:30561119 PMID:32827848 PMID:34567078 PMID:36307859 PMID:21327084 More...
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RGD:9588626 |
NCBI chr13:96,071,058...96,095,709
Ensembl chr13:96,071,081...96,095,709
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G
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Hmox1
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heme oxygenase 1
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Heme oxygenase 1 deficiency
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CTD OMIM ClinVar |
PMID:9884342 PMID:16199547 PMID:21088618 PMID:22023467 PMID:25741868 PMID:26526137 PMID:27662012 PMID:28492532 PMID:32587840 PMID:33066778 More...
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NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818
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G
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Akr1d1
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aldo-keto reductase family 1, member D1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:18624455 |
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NCBI chr 4:67,121,288...67,154,543
Ensembl chr 4:67,120,024...67,154,540
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G
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Alad
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aminolevulinate dehydratase
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treatment
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IDA
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RGD |
PMID:3679087 |
RGD:12904688 |
NCBI chr 5:80,977,562...80,987,901
Ensembl chr 5:80,977,562...80,988,041
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G
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Alas2
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5'-aminolevulinate synthase 2
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severity
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ISO
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DNA:mutation:cds:c.15599C>T,p.520L(human)
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RGD |
PMID:16446107 |
RGD:11035246 |
NCBI chr X:22,890,650...22,914,046
Ensembl chr X:22,890,689...22,914,043
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G
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B2m
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beta-2 microglobulin
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ISS
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OMIM:231100
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MouseDO |
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NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:129,549,318...129,555,356
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G
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Bmp2
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bone morphogenetic protein 2
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
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NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:141,264,646...141,274,760
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G
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Bmp6
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bone morphogenetic protein 6
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:19252486 PMID:19252488 |
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NCBI chr17:26,523,704...26,785,558
Ensembl chr17:26,523,704...26,675,261
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G
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Cp
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ceruloplasmin
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:17258727 |
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NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:104,368,456...104,427,087
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G
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Hamp
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hepcidin antimicrobial peptide
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ISO
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juvenile hereditary hemochromatosis, HFE2B, OMIM:602390 ClinVar Annotator: match by term: Hemochromatosis, juvenile, digenic | ClinVar Annotator: match by term: Hereditary hemochromatosis CTD Direct Evidence: marker/mechanism
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ClinVar CTD RGD |
PMID:9536098 PMID:12915468 PMID:14630809 PMID:14670915 PMID:15024747 PMID:15082576 PMID:15099344 PMID:15198949 PMID:16141345 PMID:16199547 PMID:16574947 PMID:16627556 PMID:17255318 PMID:17576681 PMID:18809758 PMID:19214511 PMID:19252486 PMID:19787796 PMID:21088809 PMID:21411349 PMID:22297252 PMID:22383097 PMID:22924847 PMID:25741868 PMID:26310624 PMID:26547814 PMID:26799139 PMID:27007796 PMID:28492532 PMID:33016646 PMID:12469120 More...
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RGD:1599358 |
NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297
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G
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Hfe
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homeostatic iron regulator
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ISO
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ClinVar Annotator: match by term: HFE INTRONIC POLYMORPHISM | ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis DNA:missense mutation: :p.C282Y (rs1800562) (human) CTD Direct Evidence: marker/mechanism associated with Immunologic Deficiency Syndromes;DNA:missense mutation: :p.C282Y (human) DNA:missense mutation:cds:p.S65C (human)
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ClinVar CTD RGD |
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:9024376 PMID:9106528 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9328324 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9482913 PMID:9536098 PMID:9546397 PMID:9585606 PMID:9851896 PMID:9851897 PMID:9858853 PMID:10194428 PMID:10348824 PMID:10381492 PMID:10401000 PMID:10431233 PMID:10545942 PMID:10545943 PMID:10545944 PMID:10557317 PMID:10575540 PMID:10612845 PMID:10660483 PMID:10930379 PMID:10953950 PMID:11040194 PMID:11050162 PMID:11336458 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11875012 PMID:11903354 PMID:11904676 PMID:12241803 PMID:12377814 PMID:12429850 PMID:12436244 PMID:12537660 PMID:12542741 PMID:12584229 PMID:12681966 PMID:12693884 PMID:12707220 PMID:12737937 PMID:12885340 PMID:12915468 PMID:12952143 PMID:14618419 PMID:14673107 PMID:14729817 PMID:15025725 PMID:15046077 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15324319 PMID:15347835 PMID:15350019 PMID:15477198 PMID:15546588 PMID:15570296 PMID:15775762 PMID:15858186 PMID:15965644 PMID:16132052 PMID:16186539 PMID:16199547 PMID:16793930 PMID:16879202 PMID:17042772 PMID:17079357 PMID:17119292 PMID:17210810 PMID:17236123 PMID:17240320 PMID:17255318 PMID:17258727 PMID:17308297 PMID:17376729 PMID:17389307 PMID:17450498 PMID:17576681 PMID:17600748 PMID:17828789 PMID:18042412 PMID:18199861 PMID:18317567 PMID:18325820 PMID:18499578 PMID:18504828 PMID:18566337 PMID:18762941 PMID:19084217 PMID:19159930 PMID:19214108 PMID:19429178 PMID:19444013 PMID:19554541 PMID:19560233 PMID:19681031 PMID:19759876 PMID:19787796 PMID:20160468 PMID:20301613 PMID:20471131 PMID:20560808 PMID:20722017 PMID:20843714 PMID:21228038 PMID:21243428 PMID:21349849 PMID:21411349 PMID:21452290 PMID:22383097 PMID:22531912 PMID:22624560 PMID:22890139 PMID:23178241 PMID:23429074 PMID:23657305 PMID:23705020 PMID:23953397 PMID:24033266 PMID:24442307 PMID:24604426 PMID:24729993 PMID:24872867 PMID:24920245 PMID:25457201 PMID:25504993 PMID:25728773 PMID:25741868 PMID:25741869 PMID:25850353 PMID:25874029 PMID:26151776 PMID:26153218 PMID:26365338 PMID:26456104 PMID:26547814 PMID:26799139 PMID:26975792 PMID:27124787 PMID:27173269 PMID:27518069 PMID:27591421 PMID:27659401 PMID:27667161 PMID:27890643 PMID:28111930 PMID:28443246 PMID:28492532 PMID:28617828 PMID:29084376 PMID:29404719 PMID:29590070 PMID:30291871 PMID:31061747 PMID:31220083 PMID:31335359 PMID:31436889 PMID:31980526 PMID:32153640 PMID:33791166 PMID:34426522 PMID:37260121 PMID:8696333 PMID:30651232 PMID:12850493 PMID:12190960 PMID:10194428 More...
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RGD:7207252, RGD:14746965, RGD:10755540, RGD:8694411, RGD:8694372 |
NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,841,252...41,851,208
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G
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Hjv
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hemojuvelin BMP co-receptor
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ISO
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juvenile hemochromatosis, type 2A, OMIM:602390 CTD Direct Evidence: marker/mechanism
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CTD RGD |
PMID:16868025 PMID:17255318 PMID:19252486 PMID:21411349 PMID:14647275 |
RGD:1599478 |
NCBI chr 2:186,754,801...186,758,708
Ensembl chr 2:186,754,811...186,758,867
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G
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Hmox1
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heme oxygenase 1
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ISS
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OMIM:231100
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MouseDO |
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NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818
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G
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Hp
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haptoglobin
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:16597321 |
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NCBI chr19:54,449,151...54,453,701
Ensembl chr19:54,446,217...54,467,518
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G
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Slc11a2
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solute carrier family 11 member 2
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:11439223 |
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NCBI chr 7:133,381,878...133,429,921
Ensembl chr 7:133,381,878...133,418,941
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G
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Slc40a1
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solute carrier family 40 member 1
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary hemochromatosis
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CTD ClinVar |
PMID:16457665 PMID:21411349 PMID:25741868 |
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NCBI chr 9:55,525,457...55,633,463
Ensembl chr 9:55,525,532...55,543,460
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G
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Tfr2
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transferrin receptor 2
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ISO
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hemochromatosis, type 3, HFE3, OMIM:604250 ClinVar Annotator: match by term: Hereditary hemochromatosis ClinVar Annotator: match by term: Bronze diabetes | ClinVar Annotator: match by term: Hereditary hemochromatosis ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis CTD Direct Evidence: marker/mechanism
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ClinVar CTD RGD |
PMID:9536098 PMID:10802645 PMID:11102989 PMID:11313241 PMID:11358389 PMID:12130528 PMID:12134060 PMID:12150153 PMID:14633868 PMID:15147384 PMID:16199547 PMID:16424658 PMID:16935854 PMID:17241880 PMID:17562347 PMID:17576681 PMID:17951290 PMID:18245657 PMID:18450729 PMID:18762941 PMID:20301523 PMID:21411349 PMID:21770687 PMID:21901660 PMID:22383097 PMID:22890139 PMID:22981443 PMID:23556518 PMID:23600741 PMID:24055163 PMID:25640679 PMID:25741868 PMID:26029709 PMID:26183747 PMID:26408288 PMID:27667161 PMID:27896572 PMID:28276324 PMID:28492532 PMID:29985876 PMID:34946929 PMID:35462491 PMID:10802645 More...
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RGD:1599386 |
NCBI chr12:24,744,450...24,761,413
Ensembl chr12:24,744,450...24,761,413
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G
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Tnf
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tumor necrosis factor
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ISO
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CTD Direct Evidence: marker/mechanism DNA:SNP:promoter:-238G>A (rs361525) (human) DNA:SNP:promoter:-308G>A (human)
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CTD RGD |
PMID:16793930 PMID:11389006 PMID:16793930 |
RGD:12904656, RGD:12904050 |
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
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G
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Bmp2
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bone morphogenetic protein 2
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ISO
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OMIM |
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NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:141,264,646...141,274,760
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G
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Hamp
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hepcidin antimicrobial peptide
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ISO
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ClinVar Annotator: match by term: Hemochromatosis type 1
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ClinVar |
PMID:12915468 PMID:19214511 PMID:28492532 |
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NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297
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G
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Hfe
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homeostatic iron regulator
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ISS ISO
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OMIM:235200 ClinVar Annotator: match by term: HFE-related condition | ClinVar Annotator: match by term: Hemochromatosis type 1
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MouseDO ClinVar OMIM |
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:9024376 PMID:9106528 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9328324 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9482913 PMID:9536098 PMID:9546397 PMID:9585606 PMID:9851896 PMID:9851897 PMID:9858853 PMID:10194428 PMID:10381492 PMID:10401000 PMID:10431233 PMID:10557317 PMID:10575540 PMID:10660483 PMID:10930379 PMID:10950943 PMID:10953950 PMID:11040194 PMID:11336458 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11875012 PMID:11903354 PMID:11904676 PMID:12241803 PMID:12377814 PMID:12429850 PMID:12436244 PMID:12537660 PMID:12542741 PMID:12584229 PMID:12681966 PMID:12693884 PMID:12707220 PMID:12737937 PMID:12885340 PMID:12915468 PMID:12952143 PMID:14618419 PMID:14633868 PMID:14673107 PMID:14729817 PMID:15025725 PMID:15046077 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15347835 PMID:15350019 PMID:15477198 PMID:15546588 PMID:15775762 PMID:15858186 PMID:15965644 PMID:16132052 PMID:16186539 PMID:16879202 PMID:17042772 PMID:17079357 PMID:17210810 PMID:17240320 PMID:17308297 PMID:17389307 PMID:17450498 PMID:17576681 PMID:17600748 PMID:17828789 PMID:18042412 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:19084217 PMID:19159930 PMID:19214108 PMID:19429178 PMID:19444013 PMID:19554541 PMID:19560233 PMID:19681031 PMID:19759876 PMID:19787796 PMID:20117027 PMID:20301613 PMID:20471131 PMID:20560808 PMID:20722017 PMID:21228038 PMID:21243428 PMID:21349849 PMID:21411349 PMID:21452290 PMID:22531912 PMID:22624560 PMID:22890139 PMID:23178241 PMID:23429074 PMID:23657305 PMID:23953397 PMID:24033266 PMID:24604426 PMID:24729993 PMID:24872867 PMID:24920245 PMID:25457201 PMID:25504993 PMID:25728773 PMID:25741868 PMID:25741869 PMID:25850353 PMID:26151776 PMID:26153218 PMID:26365338 PMID:26456104 PMID:26547814 PMID:26799139 PMID:26975792 PMID:27124787 PMID:27173269 PMID:27518069 PMID:27659401 PMID:27667161 PMID:27890643 PMID:28111930 PMID:28443246 PMID:28492532 PMID:28617828 PMID:29084376 PMID:29404719 PMID:29590070 PMID:30291871 PMID:31061747 PMID:31220083 PMID:31335359 PMID:31436889 PMID:31980526 PMID:32153640 PMID:33791166 PMID:34426522 PMID:37260121 More...
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NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,841,252...41,851,208
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G
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Hjv
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hemojuvelin BMP co-receptor
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ISO
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ClinVar Annotator: match by term: Hemochromatosis type 1
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ClinVar |
PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 PMID:15138164 PMID:15254010 PMID:15610558 PMID:15811010 PMID:16103117 PMID:17339196 PMID:18827264 PMID:19796184 PMID:22408404 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:186,754,801...186,758,708
Ensembl chr 2:186,754,811...186,758,867
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G
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Slc40a1
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solute carrier family 40 member 1
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ISO
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ClinVar Annotator: match by term: Hemochromatosis type 1
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ClinVar |
PMID:28492532 |
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NCBI chr 9:55,525,457...55,633,463
Ensembl chr 9:55,525,532...55,543,460
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G
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Tfr2
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transferrin receptor 2
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ISO
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ClinVar Annotator: match by term: Hemochromatosis type 1 | ClinVar Annotator: match by term: Hemochromatosis, type 1, modifier of
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ClinVar |
PMID:12150153 PMID:16424658 PMID:20301523 PMID:22890139 PMID:23600741 PMID:24055163 PMID:25741868 PMID:26029709 PMID:28492532 More...
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NCBI chr12:24,744,450...24,761,413
Ensembl chr12:24,744,450...24,761,413
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G
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Hamp
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hepcidin antimicrobial peptide
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ISO
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ClinVar Annotator: match by term: Juvenile hemochromatosis
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ClinVar |
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NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297
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G
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Hfe
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homeostatic iron regulator
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ISO
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ClinVar Annotator: match by term: Juvenile hemochromatosis
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ClinVar |
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:9024376 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9328324 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9585606 PMID:9851896 PMID:9851897 PMID:10381492 PMID:10401000 PMID:10431233 PMID:10575540 PMID:11040194 PMID:11532995 PMID:11812557 PMID:11903354 PMID:12241803 PMID:12429850 PMID:12436244 PMID:12542741 PMID:12693884 PMID:12707220 PMID:12915468 PMID:14618419 PMID:14729817 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15347835 PMID:15858186 PMID:16132052 PMID:16879202 PMID:17389307 PMID:17450498 PMID:17828789 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:19084217 PMID:19159930 PMID:19429178 PMID:19444013 PMID:19554541 PMID:20301613 PMID:20471131 PMID:21243428 PMID:22531912 PMID:23178241 PMID:23953397 PMID:24033266 PMID:24604426 PMID:25457201 PMID:25728773 PMID:25741868 PMID:25741869 PMID:25850353 PMID:26153218 PMID:26365338 PMID:27124787 PMID:27518069 PMID:27659401 PMID:27890643 PMID:28492532 PMID:31061747 PMID:31335359 PMID:31436889 PMID:31980526 PMID:32153640 PMID:37260121 More...
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NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,841,252...41,851,208
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G
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Hjv
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hemojuvelin BMP co-receptor
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile hemochromatosis
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CTD ClinVar |
PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 PMID:15254010 PMID:15610558 PMID:15811010 PMID:16103117 PMID:17339196 PMID:18827264 PMID:19796184 PMID:22408404 PMID:25741868 PMID:28492532 PMID:29764732 More...
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NCBI chr 2:186,754,801...186,758,708
Ensembl chr 2:186,754,811...186,758,867
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G
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Ankrd34a
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ankyrin repeat domain 34A
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ISO
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ClinVar Annotator: match by term: Hemochromatosis type 2A
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ClinVar |
PMID:28492532 |
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NCBI chr 2:186,818,496...186,823,921
Ensembl chr 2:186,817,216...186,824,467
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G
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Hamp
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hepcidin antimicrobial peptide
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ISO
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ClinVar Annotator: match by term: Hemochromatosis, type 2a, modifier of
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ClinVar |
PMID:12915468 PMID:19214511 PMID:28492532 |
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NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297
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G
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Hjv
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hemojuvelin BMP co-receptor
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ISO ISS
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ClinVar Annotator: match by term: HJV-related condition | ClinVar Annotator: match by term: Hemochromatosis type 2A OMIM:602390
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OMIM ClinVar MouseDO |
PMID:12482411 PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 PMID:15138164 PMID:15194541 PMID:15254010 PMID:15315789 PMID:15461631 PMID:15610558 PMID:15710580 PMID:15775751 PMID:15811010 PMID:16103117 PMID:17339196 PMID:17490902 PMID:17726683 PMID:17938254 PMID:18287331 PMID:18492090 PMID:18827264 PMID:18976966 PMID:19796184 PMID:19907145 PMID:20301349 PMID:21411349 PMID:21901660 PMID:22408404 PMID:25152992 PMID:25741868 PMID:26151776 PMID:26633544 PMID:27753142 PMID:28363629 PMID:28492532 PMID:29764732 PMID:30166352 PMID:30195625 PMID:30389309 PMID:30500107 PMID:31472034 PMID:32824233 PMID:34583728 PMID:34946929 PMID:114982867 More...
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NCBI chr 2:186,754,801...186,758,708
Ensembl chr 2:186,754,811...186,758,867
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G
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Polr3gl
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RNA polymerase III subunit GL
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ISO
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ClinVar Annotator: match by term: Hemochromatosis type 2A
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ClinVar |
PMID:28492532 |
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NCBI chr 2:186,800,419...186,818,048
Ensembl chr 2:186,800,351...186,805,197
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G
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Txnip
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thioredoxin interacting protein
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ISO
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ClinVar Annotator: match by term: Hemochromatosis type 2A
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ClinVar |
PMID:28492532 |
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NCBI chr 2:186,781,933...186,785,736
Ensembl chr 2:186,781,163...186,785,731
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G
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Hamp
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hepcidin antimicrobial peptide
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ISO ISS
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ClinVar Annotator: match by term: Hemochromatosis type 2B OMIM:613313 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar MouseDO CTD |
PMID:12469120 PMID:12915468 PMID:14670915 PMID:15082576 PMID:15099344 PMID:15198949 PMID:16141345 PMID:19214511 PMID:19787796 PMID:21088809 PMID:21411349 PMID:22297252 PMID:22924847 PMID:25741868 PMID:26547814 PMID:27007796 PMID:28492532 PMID:33016646 More...
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NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297
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G
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Tfr2
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transferrin receptor 2
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ISO ISS IAGP
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ClinVar Annotator: match by term: Hemochromatosis type 3 | ClinVar Annotator: match by term: Hereditary hemochromatosis type 3 | ClinVar Annotator: match by term: TFR2-related condition OMIM:604250 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:Ala679Gly (rat)
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OMIM ClinVar MouseDO CTD RGD |
PMID:9536098 PMID:10802645 PMID:11102989 PMID:11313241 PMID:11358389 PMID:12130528 PMID:12150153 PMID:14633868 PMID:15147384 PMID:15749661 PMID:16199547 PMID:16424658 PMID:16838333 PMID:16923517 PMID:17562347 PMID:17576681 PMID:17951290 PMID:18094142 PMID:18245657 PMID:18450729 PMID:20301523 PMID:21524769 PMID:22890139 PMID:22981443 PMID:23556518 PMID:23600741 PMID:24055163 PMID:25741868 PMID:26029709 PMID:26183747 PMID:26408288 PMID:26799139 PMID:27667161 PMID:27896572 PMID:28276324 PMID:28492532 PMID:34946929 PMID:35462491 PMID:23582421 More...
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RGD:150520058 |
NCBI chr12:24,744,450...24,761,413
Ensembl chr12:24,744,450...24,761,413
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G
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Slc40a1
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solute carrier family 40 member 1
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ISO ISS
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ClinVar Annotator: match by term: Hemochromatosis due to defect in ferroportin | ClinVar Annotator: match by term: Hemochromatosis type 4 OMIM:606069 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:11431687 PMID:11518736 PMID:12730114 PMID:12857562 PMID:12865285 PMID:12873829 PMID:14636642 PMID:15030991 PMID:15338274 PMID:15692071 PMID:15727899 PMID:15831700 PMID:15956209 PMID:16135412 PMID:16257244 PMID:16351644 PMID:16440176 PMID:16457665 PMID:16813613 PMID:16885049 PMID:17276706 PMID:17490902 PMID:17576681 PMID:17951290 PMID:17997113 PMID:18160816 PMID:19150361 PMID:19342478 PMID:19383972 PMID:20460119 PMID:21094556 PMID:21199650 PMID:21231898 PMID:21396368 PMID:21411349 PMID:22584997 PMID:23065513 PMID:23943237 PMID:24714983 PMID:25396007 PMID:25741868 PMID:26059880 PMID:27441659 PMID:27896572 PMID:28110135 PMID:28492532 PMID:29154924 PMID:30002125 PMID:30130274 PMID:30500107 PMID:31640930 PMID:32360131 PMID:33341511 PMID:34583728 More...
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NCBI chr 9:55,525,457...55,633,463
Ensembl chr 9:55,525,532...55,543,460
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G
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Best1
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bestrophin 1
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ISO
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ClinVar Annotator: match by term: Hemochromatosis type 5
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ClinVar |
PMID:14615048 PMID:25741868 PMID:28492532 |
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NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:216,054,395...216,070,974
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G
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Fth1
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ferritin heavy chain 1
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ISO
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ClinVar Annotator: match by term: Hemochromatosis type 5
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OMIM ClinVar |
PMID:11389486 PMID:14615048 PMID:25741868 PMID:28492532 |
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NCBI chr 1:216,052,037...216,054,325
Ensembl chr 1:216,051,998...216,055,214
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G
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Tfr2
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transferrin receptor 2
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ISO
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ClinVar Annotator: match by term: Hereditary hemochromatosis type 5
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ClinVar |
PMID:28492532 |
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NCBI chr12:24,744,450...24,761,413
Ensembl chr12:24,744,450...24,761,413
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G
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Jam3
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junctional adhesion molecule 3
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ISO
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ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | ClinVar Annotator: match by term: JAM3-related condition
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OMIM ClinVar |
PMID:21109224 PMID:23255084 PMID:25741868 PMID:25741869 PMID:28492532 PMID:32860008 More...
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NCBI chr 8:33,767,606...33,828,451
Ensembl chr 8:33,767,607...33,828,623
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G
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Cp
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ceruloplasmin
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susceptibility
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ISO
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DNA:splice-site mutation
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RGD |
PMID:7539672 PMID:7539672 |
RGD:1599626, RGD:1599626 |
NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:104,368,456...104,427,087
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G
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Nt5e
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5' nucleotidase, ecto
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|
ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ARTERIAL CALCIFICATION DUE TO DEFICIENCY OF CD73 | ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome | ClinVar Annotator: match by term: NT5E-related condition
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OMIM CTD ClinVar |
PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532 |
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NCBI chr 8:98,150,925...98,195,646
Ensembl chr 8:98,150,900...98,195,645
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G
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Tnfrsf11b
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TNF receptor superfamily member 11B
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|
ISO
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associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
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RGD |
PMID:22386825 |
RGD:7205494 |
NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:87,456,319...87,485,075
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G
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Pth
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parathyroid hormone
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|
ISO
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protein:decreased expression:plasma (mouse)
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RGD |
PMID:19570882 |
RGD:7242924 |
NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034
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G
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Slc34a1
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solute carrier family 34 member 1
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ISO ISS
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OMIM:241530 DNA:deletions, snps:multiple (human)
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MouseDO RGD |
PMID:19570882 PMID:16358215 |
RGD:7242924, RGD:7242925 |
NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983
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G
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Slc34a3
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solute carrier family 34 member 3
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|
ISO
|
ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 PMID:16849419 PMID:17576681 PMID:17968493 PMID:18480181 PMID:18523928 PMID:18996815 PMID:19820004 PMID:20074341 PMID:21344632 PMID:22159077 PMID:22387237 PMID:22806288 PMID:24033266 PMID:24176905 PMID:24246249 PMID:24700880 PMID:25296721 PMID:25741868 PMID:26399350 PMID:26789268 PMID:28492532 PMID:29398133 PMID:29505567 PMID:29809158 PMID:30798342 PMID:31440709 PMID:31672324 PMID:32524022 PMID:32963591 PMID:33223529 PMID:33226606 PMID:33532864 PMID:34633109 PMID:34666334 PMID:34721296 PMID:34805638 PMID:35689455 PMID:36596813 PMID:36699160 PMID:37144129 PMID:38586466 More...
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NCBI chr 3:28,442,455...28,447,997
Ensembl chr 3:28,442,457...28,447,997
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G
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Calca
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calcitonin-related polypeptide alpha
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ISO
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CTD Direct Evidence: therapeutic
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CTD |
PMID:1115441 PMID:12637657 |
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NCBI chr 1:178,312,636...178,317,588
Ensembl chr 1:178,312,638...178,317,529
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G
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Calcr
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calcitonin receptor
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ISO
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CTD Direct Evidence: therapeutic
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CTD |
PMID:18627265 |
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NCBI chr 4:32,615,955...32,691,075
Ensembl chr 4:32,615,958...32,691,075
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G
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Casr
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calcium-sensing receptor
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|
ISO
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ClinVar Annotator: match by term: Hypercalcemia CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:p.R990G, p.E1011Q (human)
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ClinVar CTD RGD |
PMID:8675635 PMID:8878438 PMID:9011580 PMID:15591042 PMID:17284438 PMID:19389809 PMID:19779033 PMID:22798347 PMID:23372019 PMID:25741868 PMID:26467025 PMID:26963950 PMID:28492532 PMID:31672324 PMID:12671052 PMID:20602573 More...
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RGD:734698, RGD:7205445 |
NCBI chr11:77,738,398...77,813,639
Ensembl chr11:77,740,614...77,810,167
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G
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Cyp24a1
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cytochrome P450, family 24, subfamily a, polypeptide 1
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:22337913 |
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NCBI chr 3:179,694,647...179,709,083
Ensembl chr 3:179,694,647...179,709,083
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G
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Cyp27b1
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cytochrome P450, family 27, subfamily b, polypeptide 1
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:20427501 |
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NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:64,756,626...64,761,570
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G
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Il6
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interleukin 6
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:10638776 |
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NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
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G
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Kl
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Klotho
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|
ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:17710231 |
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NCBI chr12:5,326,003...5,367,016
Ensembl chr12:5,325,959...5,367,015
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G
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Pth
|
parathyroid hormone
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|
IDA ISO
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associated with Kidney Failure, Chronic CTD Direct Evidence: marker/mechanism
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CTD RGD |
PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 PMID:17164314 PMID:23261531 More...
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RGD:7242689 |
NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034
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G
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Pth1r
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parathyroid hormone 1 receptor
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IDA
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protein:increased expression:odontoblast; associated with neoplasms
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RGD |
PMID:16036863 |
RGD:1599980 |
NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:119,575,868...119,598,108
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G
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Pthlh
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parathyroid hormone-like hormone
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896 |
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NCBI chr 4:181,919,400...181,930,454
Ensembl chr 4:181,919,400...181,930,454
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G
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Slc34a1
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solute carrier family 34 member 1
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ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:9560283 |
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NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983
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G
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Tnf
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tumor necrosis factor
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|
ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:10638776 |
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NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
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G
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Tnfrsf11b
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TNF receptor superfamily member 11B
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|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:15845617 |
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NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:87,456,319...87,485,075
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G
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Tnfsf11
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TNF superfamily member 11
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|
ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:15845617 |
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NCBI chr15:60,083,008...60,114,479
Ensembl chr15:60,083,008...60,114,479
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G
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Casr
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calcium-sensing receptor
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no_association susceptibility
|
ISO IEP
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associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutations:cds:p.A986S, p.R990G, p.E1011Q (human) DNA:missense mutation: :p.E1011Q (human) mRNA, protein:increased expression:kidney (rat) associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutation:cds:p.R990G (human)
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RGD |
PMID:19887834 PMID:20602573 PMID:22137721 PMID:12239240 |
RGD:7205502, RGD:7205445, RGD:7205675, RGD:7205666 |
NCBI chr11:77,738,398...77,813,639
Ensembl chr11:77,740,614...77,810,167
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G
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Cldn16
|
claudin 16
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|
ISO
|
ClinVar Annotator: match by term: HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING
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ClinVar |
PMID:14628289 |
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NCBI chr11:87,795,106...87,814,396
Ensembl chr11:87,795,106...87,814,396
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G
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Cyp24a1
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cytochrome P450, family 24, subfamily a, polypeptide 1
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:22337913 |
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NCBI chr 3:179,694,647...179,709,083
Ensembl chr 3:179,694,647...179,709,083
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G
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Pomc
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proopiomelanocortin
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:1324751 PMID:3017235 |
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NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173
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G
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Pth
|
parathyroid hormone
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:17164314 |
|
NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034
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G
|
Slc34a1
|
solute carrier family 34 member 1
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:9560283 PMID:21784483 |
RGD:7242936 |
NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983
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G
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Slc34a3
|
solute carrier family 34 member 3
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|
ISO
|
ClinVar Annotator: match by term: Hypercalciuria
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ClinVar |
|
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NCBI chr 3:28,442,455...28,447,997
Ensembl chr 3:28,442,457...28,447,997
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G
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Vdr
|
vitamin D receptor
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IEP
|
protein:increased expression:kidney, small intestine
|
RGD |
PMID:19929616 |
RGD:4889914 |
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757
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G
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Adcy10
|
adenylate cyclase 10
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susceptibility
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ISO
|
ClinVar Annotator: match by term: ADCY10-related condition | ClinVar Annotator: match by term: Familial idiopathic hypercalciuria CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:9536098 PMID:11932268 PMID:17576681 PMID:25741868 PMID:26787776 PMID:28492532 More...
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NCBI chr13:80,280,595...80,366,939
Ensembl chr13:80,284,295...80,366,926
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G
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Dcaf6
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DDB1 and CUL4 associated factor 6
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|
ISO
|
ClinVar Annotator: match by term: ADCY10-related condition | ClinVar Annotator: match by term: Familial idiopathic hypercalciuria
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ClinVar |
PMID:9536098 PMID:11932268 PMID:17576681 PMID:25741868 PMID:26787776 PMID:28492532 More...
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NCBI chr13:80,159,282...80,260,510
Ensembl chr13:80,159,321...80,260,510
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G
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Kl
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Klotho
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:20394945 |
|
NCBI chr12:5,326,003...5,367,016
Ensembl chr12:5,325,959...5,367,015
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G
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Ftl1
|
ferritin light chain 1
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|
ISO
|
DNA:deletion:5' utr: (human) ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts CTD Direct Evidence: marker/mechanism DNA:mutations:5'utr:
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ClinVar CTD OMIM RGD |
PMID:7492760 PMID:7493028 PMID:7669675 PMID:8233801 PMID:8781450 PMID:9226182 PMID:9292547 PMID:9414300 PMID:9414313 PMID:9536098 PMID:10366790 PMID:10366804 PMID:10759702 PMID:11438811 PMID:11703332 PMID:11849230 PMID:12199804 PMID:12200611 PMID:12670350 PMID:12730114 PMID:12746423 PMID:14662596 PMID:15099026 PMID:15173247 PMID:16395671 PMID:16518306 PMID:16900584 PMID:17182944 PMID:17576681 PMID:18413574 PMID:18414213 PMID:18710380 PMID:18854324 PMID:19176363 PMID:19800271 PMID:21270786 PMID:21541272 PMID:21907119 PMID:22881709 PMID:23300176 PMID:23421845 PMID:23592921 PMID:24766965 PMID:25741868 PMID:25832658 PMID:26633542 PMID:26849797 PMID:27096259 PMID:27981572 PMID:28492532 PMID:28746593 PMID:29269865 PMID:30401656 PMID:30678075 PMID:31414986 PMID:32241646 PMID:36233161 PMID:9292547 PMID:22020773 More...
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RGD:1598966, RGD:5509864 |
NCBI chr 1:105,072,858...105,074,705
Ensembl chr X:45,399,355...45,399,915 Ensembl chr 2:45,399,355...45,399,915 Ensembl chr 1:45,399,355...45,399,915
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G
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Gys1
|
glycogen synthase 1
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ISO
|
ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts
|
ClinVar |
PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 1:105,051,916...105,071,763
Ensembl chr 1:105,051,961...105,072,419
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G
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Pgap3
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post-GPI attachment to proteins phospholipase 3
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|
ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome
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CTD ClinVar |
PMID:25741868 PMID:27618451 PMID:30217754 PMID:30345601 |
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NCBI chr10:83,883,406...83,895,408
Ensembl chr10:83,883,406...83,903,407
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G
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Pigg
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phosphatidylinositol glycan anchor biosynthesis, class G
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ISO
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ClinVar Annotator: match by term: MABRY SYNDROME
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ClinVar |
PMID:25741868 PMID:26996948 PMID:28492532 |
|
NCBI chr14:1,549,891...1,578,174
Ensembl chr14:1,549,891...1,578,167
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G
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Pigl
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phosphatidylinositol glycan anchor biosynthesis, class L
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ISO
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ClinVar Annotator: match by term: MABRY SYNDROME
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ClinVar |
|
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NCBI chr10:47,641,478...47,699,200
Ensembl chr10:47,641,098...47,699,453
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G
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Pigo
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phosphatidylinositol glycan anchor biosynthesis, class O
|
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome
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CTD ClinVar |
PMID:22683086 PMID:24033266 PMID:24417746 PMID:25741868 PMID:28492532 PMID:28545593 PMID:30609409 PMID:31440721 PMID:31589614 PMID:31980526 PMID:34313030 PMID:34441372 More...
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NCBI chr 5:62,040,979...62,052,067
Ensembl chr 5:62,037,308...62,052,075
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G
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Pigv
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phosphatidylinositol glycan anchor biosynthesis, class V
|
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome | ClinVar Annotator: match by term: MABRY SYNDROME
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CTD ClinVar |
PMID:1724113 PMID:20578257 PMID:20802478 PMID:21739589 PMID:22228761 PMID:22315194 PMID:24033266 PMID:24129430 PMID:25741868 PMID:28492532 PMID:28688840 More...
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NCBI chr 5:151,173,486...151,185,748
Ensembl chr 5:151,173,044...151,185,376
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G
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Pigw
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phosphatidylinositol glycan anchor biosynthesis, class W
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
|
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NCBI chr10:70,246,904...70,248,412
Ensembl chr10:70,243,810...70,250,329
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G
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Pigy
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phosphatidylinositol glycan anchor biosynthesis, class Y
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
|
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NCBI chr 8:28,965,634...28,967,876
Ensembl chr 8:28,965,617...28,968,508
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G
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Pigb
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phosphatidylinositol glycan anchor biosynthesis, class B
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ISO
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ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1
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ClinVar |
PMID:25326635 PMID:25741868 PMID:31256876 |
|
NCBI chr 8:82,622,484...82,656,323
Ensembl chr 8:82,632,445...82,656,323
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G
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Pigg
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phosphatidylinositol glycan anchor biosynthesis, class G
|
|
ISO
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ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1
|
ClinVar |
PMID:25741868 PMID:26996948 PMID:28492532 |
|
NCBI chr14:1,549,891...1,578,174
Ensembl chr14:1,549,891...1,578,167
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G
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Pigl
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phosphatidylinositol glycan anchor biosynthesis, class L
|
|
ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1
|
ClinVar |
|
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NCBI chr10:47,641,478...47,699,200
Ensembl chr10:47,641,098...47,699,453
|
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G
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Pigo
|
phosphatidylinositol glycan anchor biosynthesis, class O
|
|
ISO
|
ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1
|
ClinVar |
PMID:25741868 |
|
NCBI chr 5:62,040,979...62,052,067
Ensembl chr 5:62,037,308...62,052,075
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G
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Pigv
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
ISO
|
DNA:missense mutations:CDS:multiple (human) ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 | ClinVar Annotator: match by term: PIGV-related condition
|
OMIM ClinVar RGD |
PMID:1724113 PMID:17351347 PMID:20578257 PMID:20802478 PMID:21739589 PMID:22228761 PMID:22315194 PMID:24033266 PMID:24129430 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28688840 PMID:20802478 More...
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RGD:243048420 |
NCBI chr 5:151,173,486...151,185,748
Ensembl chr 5:151,173,044...151,185,376
|
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G
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Arhgef39
|
Rho guanine nucleotide exchange factor 39
|
|
ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
|
NCBI chr 5:62,548,300...62,551,870
Ensembl chr 5:62,548,303...62,551,870
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G
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Arid3c
|
AT-rich interaction domain 3C
|
|
ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
|
NCBI chr 5:61,685,511...61,692,821
Ensembl chr 5:61,685,511...61,692,821
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G
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Atosb
|
atos homolog B
|
|
ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
|
NCBI chr 5:62,056,654...62,070,338
Ensembl chr 5:62,056,654...62,064,613
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G
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Ca9
|
carbonic anhydrase 9
|
|
ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
|
NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:62,558,823...62,565,626
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G
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Ccdc107
|
coiled-coil domain containing 107
|
|
ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
|
NCBI chr 5:62,545,273...62,548,711
Ensembl chr 5:62,544,714...62,548,709
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G
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Ccin
|
calicin
|
|
ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
|
NCBI chr 5:63,002,427...63,004,314
Ensembl chr 5:63,000,138...63,010,123
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G
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Ccl19
|
C-C motif chemokine ligand 19
|
|
ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:61,759,220...61,761,164
Ensembl chr 5:61,759,220...61,772,022
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G
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Ccl21
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C-C motif chemokine ligand 21
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ISO
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ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
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ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:61,776,411...61,777,515
Ensembl chr 5:61,776,413...61,777,540
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G
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Ccl27
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C-C motif chemokine ligand 27
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ISO
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ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
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ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:61,737,261...61,744,375
Ensembl chr 5:61,737,261...61,743,522
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G
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Cd72
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Cd72 molecule
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ISO
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ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
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ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:62,493,155...62,500,779
Ensembl chr 5:62,493,161...62,500,519
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G
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Cimip2b
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ciliary microtubule inner protein 2B
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ISO
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ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
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ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:62,471,246...62,477,812
Ensembl chr 5:62,470,367...62,478,198
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G
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Clta
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clathrin, light chain A
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ISO
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ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
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ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:63,022,046...63,059,223
Ensembl chr 5:63,041,184...63,059,215
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G
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Cntfr
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ciliary neurotrophic factor receptor
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ISO
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ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
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ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:61,619,326...61,657,359
Ensembl chr 5:61,619,326...61,645,795
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G
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Creb3
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cAMP responsive element binding protein 3
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ISO
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ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
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ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:62,613,652...62,619,019
Ensembl chr 5:62,613,638...62,619,500
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G
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Dctn3
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dynactin subunit 3
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ISO
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ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
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ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:61,676,950...61,684,958
Ensembl chr 5:61,676,950...61,684,903
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G
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Dnai1
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dynein, axonemal, intermediate chain 1
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ISO
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ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
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ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:61,526,079...61,596,806
Ensembl chr 5:61,525,999...61,596,810
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G
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Dnajb5
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DnaJ heat shock protein family (Hsp40) member B5
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ISO
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ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
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ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:61,972,637...61,981,887
Ensembl chr 5:61,972,706...61,981,860
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G
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Enho
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energy homeostasis associated
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ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
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ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:61,596,860...61,598,657
Ensembl chr 5:61,596,860...61,598,657
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G
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Fam221b
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family with sequence similarity 221, member B
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ISO
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ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
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ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:62,706,118...62,715,339
Ensembl chr 5:62,706,122...62,715,137
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G
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Fancg
|
FA complementation group G
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ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
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ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:62,027,494...62,037,202
Ensembl chr 5:62,027,500...62,035,787
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G
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Galt
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galactose-1-phosphate uridylyltransferase
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ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
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ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:61,722,871...61,726,128
Ensembl chr 5:61,722,466...61,726,125
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G
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Gba2
|
glucosylceramidase beta 2
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ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:62,618,176...62,630,160
Ensembl chr 5:62,618,177...62,630,308
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G
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Glipr2
|
GLI pathogenesis-related 2
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ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
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ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:62,966,163...62,998,016
Ensembl chr 5:62,966,195...62,998,716
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G
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Gne
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glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
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ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
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ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:63,062,953...63,103,320
Ensembl chr 5:63,062,850...63,103,251
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G
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Hint2
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histidine triad nucleotide binding protein 2
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ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
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ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:62,700,383...62,702,638
Ensembl chr 5:62,700,384...62,702,915
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G
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Hrct1
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histidine rich carboxyl terminus 1
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ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
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ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:62,778,112...62,778,954
Ensembl chr 5:62,778,112...62,778,954
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G
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Il11ra1
|
interleukin 11 receptor subunit alpha 1
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|
ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
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ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:61,727,650...61,737,265
Ensembl chr 5:61,727,931...61,737,264
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G
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Msmp
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microseminoprotein, prostate associated
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ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
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ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
|
NCBI chr 5:62,634,721...62,635,771
Ensembl chr 5:62,634,721...62,635,970
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G
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Npr2
|
natriuretic peptide receptor 2
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|
ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:62,678,197...62,697,360
Ensembl chr 5:62,678,367...62,697,343
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G
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Or13c7
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olfactory receptor family 13 subfamily C member 7
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ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
|
NCBI chr 5:62,876,908...62,877,867
Ensembl chr 5:62,876,908...62,877,867
|
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G
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Or13j1
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olfactory receptor family 13 subfamily J member 1
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ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
|
NCBI chr 5:62,757,159...62,758,097
Ensembl chr 5:62,757,159...62,758,097
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G
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Phf24
|
PHD finger protein 24
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|
ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
|
NCBI chr 5:61,939,261...61,966,879
Ensembl chr 5:61,939,900...61,966,875
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G
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Pigo
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phosphatidylinositol glycan anchor biosynthesis, class O
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ISO
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ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
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OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22683086 PMID:24033266 PMID:24049131 PMID:24417746 PMID:25741868 PMID:26467025 PMID:26633542 PMID:28337824 PMID:28492532 PMID:28545593 PMID:28900819 PMID:30109123 PMID:30609409 PMID:31440721 PMID:31589614 PMID:31980526 PMID:32424350 PMID:34313030 PMID:34441372 PMID:34493867 PMID:36762943 More...
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NCBI chr 5:62,040,979...62,052,067
Ensembl chr 5:62,037,308...62,052,075
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G
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Reck
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reversion-inducing-cysteine-rich protein with kazal motifs
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ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
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ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:62,898,717...62,965,274
Ensembl chr 5:62,898,668...62,965,270
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G
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Rgp1
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RGP1 homolog, RAB6A GEF complex partner 1
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ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:62,630,253...62,638,872
Ensembl chr 5:62,630,133...62,638,864
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G
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Rpp25l
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ribonuclease P/MRP subunit p25 like
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ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:61,674,299...61,675,844
Ensembl chr 5:61,672,199...61,675,168
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G
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Rusc2
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RUN and SH3 domain containing 2
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ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:62,424,185...62,471,317
Ensembl chr 5:62,444,665...62,471,314
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G
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Sigmar1
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sigma non-opioid intracellular receptor 1
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|
ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:61,700,021...61,702,799
Ensembl chr 5:61,700,021...61,702,855
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G
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Sit1
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signaling threshold regulating transmembrane adaptor 1
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ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
|
NCBI chr 5:62,536,003...62,538,230
Ensembl chr 5:62,536,009...62,537,911
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G
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Spag8
|
sperm associated antigen 8
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|
ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:62,697,451...62,699,664
Ensembl chr 5:62,693,122...62,699,664
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G
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Spata31f1
|
SPATA31 subfamily F member 1
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ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
|
NCBI chr 5:61,861,587...61,867,724
Ensembl chr 5:61,861,071...61,878,519
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G
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Spata31g1
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SPATA31 subfamily G member 1
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ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
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NCBI chr 5:61,995,800...61,999,889
Ensembl chr 5:61,995,800...61,999,889
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G
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Stoml2
|
stomatin like 2
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|
ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
|
NCBI chr 5:62,052,042...62,055,639
Ensembl chr 5:62,052,045...62,055,670
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G
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Tesk1
|
testis associated actin remodelling kinase 1
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|
ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
|
NCBI chr 5:62,487,763...62,493,492
Ensembl chr 5:62,487,763...62,493,492
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G
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Tln1
|
talin 1
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|
ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
|
NCBI chr 5:62,583,730...62,613,687
Ensembl chr 5:62,583,731...62,613,687
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G
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Tmem8b
|
transmembrane protein 8B
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ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
|
NCBI chr 5:62,715,238...62,744,187
Ensembl chr 5:62,715,203...62,744,174
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G
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Tpm2
|
tropomyosin 2
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|
ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
|
NCBI chr 5:62,566,712...62,576,066
Ensembl chr 5:62,566,652...62,575,726
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G
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Unc13b
|
unc-13 homolog B
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|
ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
|
NCBI chr 5:62,084,809...62,299,884
Ensembl chr 5:62,084,819...62,299,884
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G
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Vcp
|
valosin-containing protein
|
|
ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
|
ClinVar |
PMID:22683086 PMID:24417746 PMID:28492532 |
|
NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:62,005,985...62,025,387
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|
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G
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Pgap2
|
post-GPI attachment to proteins 2
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|
ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 3
|
OMIM ClinVar |
PMID:2164379 PMID:21629298 PMID:21643797 PMID:23561846 PMID:23561847 PMID:25741868 PMID:25741869 PMID:28492532 More...
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NCBI chr 1:166,003,593...166,030,088
Ensembl chr 1:166,003,523...166,030,088
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|
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G
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Pgap3
|
post-GPI attachment to proteins phospholipase 3
|
|
ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 | ClinVar Annotator: match by term: Hyperphosphatasia with impaired intellectual development syndrome 4 | ClinVar Annotator: match by term: PGAP3-related condition
|
OMIM ClinVar |
PMID:2443911 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22315194 PMID:24439110 PMID:25741868 PMID:26077850 PMID:27120253 PMID:28327575 PMID:28390064 PMID:28492532 PMID:28794914 PMID:29310717 PMID:29531774 PMID:29620724 PMID:30217754 PMID:30345601 PMID:32726939 PMID:32845056 PMID:32860008 PMID:34582790 PMID:35887114 More...
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NCBI chr10:83,883,406...83,895,408
Ensembl chr10:83,883,406...83,903,407
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G
|
Setd5
|
SET domain containing 5
|
|
ISO
|
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4
|
ClinVar |
|
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NCBI chr 4:147,772,955...147,850,669
Ensembl chr 4:147,773,028...147,850,667
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G
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Aatf
|
apoptosis antagonizing transcription factor
|
|
ISO
|
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
|
ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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|
NCBI chr10:69,796,502...69,889,671
Ensembl chr10:69,794,007...69,889,634
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G
|
Acaca
|
acetyl-CoA carboxylase alpha
|
|
ISO
|
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
|
ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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|
NCBI chr10:69,511,627...69,773,888
Ensembl chr10:69,511,857...69,773,888
|
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G
|
C10h17orf78
|
similar to human chromosome 17 open reading frame 78
|
|
ISO
|
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
|
ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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|
NCBI chr10:69,537,701...69,552,358
Ensembl chr10:69,535,160...69,583,661
|
|
G
|
Ddx52
|
DExD-box helicase 52
|
|
ISO
|
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
|
ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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|
NCBI chr10:69,322,062...69,344,856
Ensembl chr10:69,322,114...69,428,714
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G
|
Dhrs11
|
dehydrogenase/reductase 11
|
|
ISO
|
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
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ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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NCBI chr10:70,195,637...70,205,735
Ensembl chr10:70,195,637...70,205,893
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G
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Dusp14
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dual specificity phosphatase 14
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ISO
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ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
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ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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NCBI chr10:69,433,949...69,463,863
Ensembl chr10:69,426,730...69,462,837
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G
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Ggnbp2
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gametogenetin binding protein 2
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ISO
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ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
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ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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NCBI chr10:70,208,950...70,240,554
Ensembl chr10:70,208,950...70,246,260
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G
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Hnf1b
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HNF1 homeobox B
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ISO
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ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
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ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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NCBI chr10:69,233,377...69,287,360
Ensembl chr10:69,233,131...69,287,361
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G
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Lhx1
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LIM homeobox 1
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ISO
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ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
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ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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NCBI chr10:69,894,288...69,901,076
Ensembl chr10:69,894,288...69,901,076
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G
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Mrm1
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mitochondrial rRNA methyltransferase 1
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ISO
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ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
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ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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NCBI chr10:70,187,842...70,194,785
Ensembl chr10:70,188,748...70,194,131
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G
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Myo19
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myosin XIX
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ISO
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ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
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ClinVar |
PMID:24367057 PMID:25741868 PMID:27626616 PMID:28492532 PMID:30679815 PMID:30813920 PMID:32198969 PMID:32466763 More...
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NCBI chr10:70,250,500...70,279,867
Ensembl chr10:70,250,022...70,279,858
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G
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Pigw
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phosphatidylinositol glycan anchor biosynthesis, class W
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ISO
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ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
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OMIM ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24367057 PMID:24905847 PMID:25741868 PMID:26123568 PMID:27626616 PMID:28492532 PMID:30679815 PMID:30813920 PMID:31604004 PMID:32198969 PMID:32466763 More...
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NCBI chr10:70,246,904...70,248,412
Ensembl chr10:70,243,810...70,250,329
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G
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Synrg
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synergin, gamma
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ISO
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ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
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ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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NCBI chr10:69,346,154...69,428,714
Ensembl chr10:69,322,114...69,428,714
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G
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Tada2a
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transcriptional adaptor 2A
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ISO
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ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
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ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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NCBI chr10:69,463,966...69,511,612
Ensembl chr10:69,463,968...69,511,607
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G
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Pigy
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phosphatidylinositol glycan anchor biosynthesis, class Y
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ISO
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ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 6
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OMIM ClinVar |
PMID:25741868 PMID:26293662 PMID:28492532 |
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NCBI chr 8:28,965,634...28,967,876
Ensembl chr 8:28,965,617...28,968,508
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G
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Pyurf
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PIGY upstream open reading frame
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ISO
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ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 6
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ClinVar |
PMID:25741868 PMID:26293662 PMID:28492532 |
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NCBI chr 4:88,832,008...88,835,643
Ensembl chr 4:88,831,676...88,836,274
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G
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Fgf23
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fibroblast growth factor 23
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:17710231 |
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NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:161,600,383...161,609,991
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G
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Galnt3
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polypeptide N-acetylgalactosaminyltransferase 3
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: GALNT3-related condition
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CTD ClinVar |
PMID:15133511 PMID:17710231 PMID:20358599 PMID:25741868 PMID:28492532 |
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NCBI chr 3:71,150,559...71,187,321
Ensembl chr 3:71,150,571...71,174,323
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G
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Kl
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Klotho
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:17710231 |
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NCBI chr12:5,326,003...5,367,016
Ensembl chr12:5,325,959...5,367,015
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G
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Pth
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parathyroid hormone
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IDA ISO
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associated with Kidney Failure, Chronic CTD Direct Evidence: marker/mechanism associated with Kidney Failure, Chronic
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CTD RGD |
PMID:12399635 PMID:23548309 PMID:23211335 |
RGD:7242565, RGD:7242693 |
NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034
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G
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Slc34a1
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solute carrier family 34 member 1
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ISO
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protein:increased expression:kidney (mouse)
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RGD |
PMID:18835926 PMID:20418498 |
RGD:7242940, RGD:7243099 |
NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983
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G
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Fgf23
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fibroblast growth factor 23
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ISO
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ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
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ClinVar |
PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 PMID:25326637 PMID:25741868 PMID:29389098 More...
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NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:161,600,383...161,609,991
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G
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Galnt3
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polypeptide N-acetylgalactosaminyltransferase 3
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ISO ISS
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cortical hyperostosis with hyperphosphatemia | ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome OMIM:211900
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CTD ClinVar MouseDO |
PMID:15133511 PMID:20358599 PMID:25741868 PMID:28492532 |
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NCBI chr 3:71,150,559...71,187,321
Ensembl chr 3:71,150,571...71,174,323
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G
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Kl
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Klotho
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ISO ISS
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ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome OMIM:211900
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ClinVar MouseDO |
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NCBI chr12:5,326,003...5,367,016
Ensembl chr12:5,325,959...5,367,015
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G
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Acrbp
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acrosin binding protein
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ISO
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ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:159,537,395...159,550,454
Ensembl chr 4:159,537,391...159,550,454
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G
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Acsm4
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acyl-CoA synthetase medium-chain family member 4
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ISO
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ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 1:183,485,259...183,509,712
Ensembl chr 1:183,485,259...183,509,712
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G
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Adipor2
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adiponectin receptor 2
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ISO
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ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:154,195,440...154,261,141
Ensembl chr 4:154,172,567...154,231,666
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G
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Aicda
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activation-induced cytidine deaminase
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ISO
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ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:157,444,697...157,456,356
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G
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Akap3
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A-kinase anchoring protein 3
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ISO
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ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:161,374,198...161,400,062
Ensembl chr 4:161,374,407...161,400,230
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G
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Ano2
|
anoctamin 2
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ISO
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ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:160,200,471...160,541,830
Ensembl chr 4:160,182,152...160,541,821
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G
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Apobec1
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apolipoprotein B mRNA editing enzyme catalytic subunit 1
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ISO
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ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,472,879...157,500,496
Ensembl chr 4:157,472,868...157,498,909
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G
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Atn1
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atrophin 1
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ISO
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ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:159,240,573...159,254,378
Ensembl chr 4:159,237,562...159,254,418
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G
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B4galnt3
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beta-1,4-N-acetyl-galactosaminyl transferase 3
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ISO
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ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:155,081,261...155,181,255
Ensembl chr 4:155,081,261...155,181,244
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G
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C1r
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complement C1r
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ISO
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ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:159,099,013...159,109,770
Ensembl chr 4:159,098,918...159,109,714
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G
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C1rl
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complement C1r subcomponent like
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ISO
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ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:159,080,495...159,097,066
Ensembl chr 4:159,080,495...159,097,066
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G
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C1s
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complement C1s
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ISO
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ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:159,116,549...159,128,736
Ensembl chr 4:159,116,549...159,128,736
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G
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C3ar1
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complement C3a receptor 1
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ISO
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ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:157,747,419...157,756,609
Ensembl chr 4:157,746,089...157,776,323
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G
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Cacna1c
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calcium voltage-gated channel subunit alpha1 C
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ISO
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ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762
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G
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Cacna2d4
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calcium voltage-gated channel auxiliary subunit alpha2delta 4
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ISO
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ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:154,080,877...154,197,369
Ensembl chr 4:154,080,877...154,193,778
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G
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Ccdc77
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coiled-coil domain containing 77
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ISO
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ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:155,206,402...155,238,235
Ensembl chr 4:155,193,275...155,239,207
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G
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Ccnd2
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cyclin D2
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ISO
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ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:161,653,048...161,680,301 Ensembl chr 4:161,653,048...161,680,301
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G
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Cd163
|
CD163 molecule
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ISO
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ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:158,770,749...158,804,146
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G
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Cd27
|
CD27 molecule
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ISO
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ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:159,716,932...159,721,823
Ensembl chr 4:159,716,935...159,721,823
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G
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Cd4
|
Cd4 molecule
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ISO
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ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:159,356,337...159,381,461
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G
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Cd9
|
CD9 molecule
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ISO
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ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:159,942,553...159,975,463
Ensembl chr 4:159,942,560...159,975,444
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G
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Cdca3
|
cell division cycle associated 3
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ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:159,321,203...159,325,072
Ensembl chr 4:159,321,014...159,325,068
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G
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Chd4
|
chromodomain helicase DNA binding protein 4
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ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:159,584,623...159,617,867
Ensembl chr 4:159,584,654...159,617,866
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G
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Clec4a1
|
C-type lectin domain family 4, member A1
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ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:157,845,811...157,857,926
Ensembl chr 4:157,845,752...157,858,273
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G
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Clec4a3
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C-type lectin domain family 4, member A3
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ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:157,885,899...157,896,728
Ensembl chr 4:157,885,895...157,896,727
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G
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Clec4b2
|
C-type lectin domain family 4, member B2
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:158,148,434...158,171,933
Ensembl chr 4:158,148,314...158,172,249
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G
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Clec4d
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C-type lectin domain family 4, member D
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ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
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ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:158,275,287...158,286,978
Ensembl chr 4:158,275,341...158,287,055
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G
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Clec4e
|
C-type lectin domain family 4, member E
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:158,292,624...158,298,607
Ensembl chr 4:158,293,311...158,298,467
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G
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Clec6a-ps1
|
C-type lectin domain family 6, member A, pseudogene 1
|
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ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:158,225,100...158,244,722
Ensembl chr 4:158,225,099...158,244,295
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G
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Clstn3
|
calsyntenin 3
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|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,017,795...159,051,069
Ensembl chr 4:159,017,795...159,051,069
|
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G
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Cops7a
|
COP9 signalosome subunit 7A
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,452,878...159,478,878
Ensembl chr 4:159,452,897...159,460,315
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G
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Cracr2a
|
calcium release activated channel regulator 2A
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:162,094,247...162,207,926
Ensembl chr 4:162,110,929...162,221,529
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G
|
Dcp1b
|
decapping mRNA 1B
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:154,030,181...154,068,038
Ensembl chr 4:154,030,690...154,068,035
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G
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Dppa3
|
developmental pluripotency-associated 3
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:157,523,426...157,526,810
Ensembl chr 5:93,143,318...93,144,472 Ensembl chr 4:93,143,318...93,144,472
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G
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Dyrk4
|
dual specificity tyrosine phosphorylation regulated kinase 4
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:161,401,580...161,443,816
Ensembl chr 4:161,401,580...161,443,791
|
|
G
|
Emg1
|
EMG1 N1-specific pseudouridine methyltransferase
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,195,545...159,203,826
Ensembl chr 4:159,195,564...159,203,826
|
|
G
|
Eno2
|
enolase 2
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,258,371...159,267,220
Ensembl chr 4:159,258,371...159,267,220
|
|
G
|
Erc1
|
ELKS/RAB6-interacting/CAST family member 1
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:154,435,936...154,727,987
Ensembl chr 4:154,435,944...154,727,987
|
|
G
|
Fam90a1a
|
family with sequence similarity 90 member A1A
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr16:76,801,218...76,808,469
|
|
G
|
Fbxl14
|
F-box and leucine-rich repeat protein 14
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:154,334,820...154,338,638
Ensembl chr 4:154,334,092...154,377,959
|
|
G
|
Ferry3
|
FERRY endosomal RAB5 effector complex subunit 3
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:161,458,942...161,494,213
Ensembl chr 4:161,458,931...161,493,075
|
|
G
|
Fgf23
|
fibroblast growth factor 23
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 PMID:25378588 PMID:25741868 PMID:29389098 More...
|
|
NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:161,600,383...161,609,991
|
|
G
|
Fgf6
|
fibroblast growth factor 6
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:161,541,089...161,549,624
Ensembl chr 4:161,541,089...161,553,521
|
|
G
|
Fkbp4
|
FKBP prolyl isomerase 4
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:163,389,464...163,397,918
Ensembl chr 4:163,389,464...163,397,918
|
|
G
|
Foxj2
|
forkhead box J2
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:157,718,990...157,745,468
Ensembl chr 4:157,718,992...157,745,450
|
|
G
|
Foxm1
|
forkhead box M1
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:163,325,628...163,338,100
Ensembl chr 4:163,325,614...163,337,172
|
|
G
|
Galnt3
|
polypeptide N-acetylgalactosaminyltransferase 3
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
OMIM ClinVar |
PMID:3839626 PMID:3998061 PMID:5899975 PMID:8338191 PMID:9536098 PMID:13774168 PMID:15133511 PMID:15599692 PMID:15687324 PMID:16199547 PMID:16528452 PMID:16940445 PMID:17311862 PMID:17351710 PMID:17576681 PMID:18618993 PMID:18982401 PMID:20358599 PMID:21347749 PMID:24668887 PMID:25326635 PMID:25351881 PMID:25741868 PMID:25899975 PMID:26337219 PMID:27164190 PMID:27867679 PMID:28492532 PMID:33614378 PMID:38106599 More...
|
|
NCBI chr 3:71,150,559...71,187,321
Ensembl chr 3:71,150,571...71,174,323
|
|
G
|
Galnt8
|
polypeptide N-acetylgalactosaminyltransferase 8
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:161,307,603...161,336,485
|
|
G
|
Gapdh
|
glyceraldehyde-3-phosphate dehydrogenase
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:159,648,592...159,653,377
|
|
G
|
Gdf3
|
growth differentiation factor 3
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:157,503,547...157,507,923
Ensembl chr 4:157,502,884...157,507,907
|
|
G
|
Gnb3
|
G protein subunit beta 3
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,325,741...159,331,443
Ensembl chr 4:159,325,742...159,331,445
|
|
G
|
Gpr162
|
G protein-coupled receptor 162
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,348,465...159,354,577
Ensembl chr 4:159,348,303...159,354,390
|
|
G
|
Grcc10
|
gene rich cluster, C10 gene
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,237,562...159,239,223
|
|
G
|
Iffo1
|
intermediate filament family orphan 1
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,631,309...159,648,531
Ensembl chr 4:159,630,763...159,648,527
|
|
G
|
Ing4
|
inhibitor of growth family, member 4
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,528,183...159,536,762
Ensembl chr 4:159,528,189...159,536,761
|
|
G
|
Iqsec3
|
IQ motif and Sec7 domain ArfGEF 3
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:156,283,040...156,379,396
Ensembl chr 4:156,283,043...156,379,396
|
|
G
|
Itfg2
|
integrin alpha FG-GAP repeat containing 2
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:163,371,125...163,384,676
Ensembl chr 4:163,338,702...163,384,367
|
|
G
|
Kcna1
|
potassium voltage-gated channel subfamily A member 1
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:161,150,378...161,160,051
Ensembl chr 4:161,147,418...161,160,044
|
|
G
|
Kcna5
|
potassium voltage-gated channel subfamily A member 5
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:161,040,853...161,044,311
Ensembl chr 4:160,996,950...161,044,408
|
|
G
|
Kcna6
|
potassium voltage-gated channel subfamily A member 6
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:161,229,103...161,262,352
Ensembl chr 4:161,191,961...161,263,240
|
|
G
|
Kdm5a
|
lysine demethylase 5A
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:155,238,124...155,316,121
Ensembl chr 4:155,238,044...155,316,121
|
|
G
|
Kl
|
Klotho
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:17710231 PMID:25741868 PMID:28492532 PMID:29389098 |
|
NCBI chr12:5,326,003...5,367,016
Ensembl chr12:5,325,959...5,367,015
|
|
G
|
Klrg1
|
killer cell lectin like receptor G1
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:157,127,571...157,139,372
Ensembl chr 4:157,127,571...157,139,372
|
|
G
|
Lag3
|
lymphocyte activating 3
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,398,930...159,407,001
Ensembl chr 4:159,398,932...159,406,669
|
|
G
|
LOC120102747
|
small nucleolar RNA U89
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,206,825...159,207,085
Ensembl chr 4:159,206,825...159,207,085
|
|
G
|
Lpar5
|
lysophosphatidic acid receptor 5
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,556,735...159,570,216
Ensembl chr 4:159,554,805...159,571,894
|
|
G
|
Lpcat3
|
lysophosphatidylcholine acyltransferase 3
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,154,690...159,196,176
Ensembl chr 4:159,154,158...159,196,358
|
|
G
|
Lrrc23
|
leucine rich repeat containing 23
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,267,572...159,277,764
Ensembl chr 4:159,267,574...159,277,794
|
|
G
|
Lrtm2
|
leucine-rich repeats and transmembrane domains 2
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:154,158,165...154,180,389
Ensembl chr 4:154,158,168...154,167,641
|
|
G
|
Ltbr
|
lymphotoxin beta receptor
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,795,115...159,801,571
Ensembl chr 4:159,795,115...159,807,296
|
|
G
|
M6pr
|
mannose-6-phosphate receptor, cation dependent
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:157,173,154...157,182,293
Ensembl chr 4:157,173,125...157,182,277
|
|
G
|
Mfap5
|
microfibril associated protein 5
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:157,399,919...157,422,448
Ensembl chr 4:157,395,597...157,422,448
|
|
G
|
Mir141
|
microRNA 141
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,209,525...159,209,618
|
|
G
|
Mir200c
|
microRNA 200c
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,209,965...159,210,033
|
|
G
|
Mlf2
|
myeloid leukemia factor 2
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,425,542...159,430,584
Ensembl chr 4:159,411,732...159,430,571
|
|
G
|
Mrpl51
|
mitochondrial ribosomal protein L51
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,677,988...159,681,650
Ensembl chr 4:159,677,827...159,681,641
|
|
G
|
Nanog
|
Nanog homeobox
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:157,615,687...157,623,061
Ensembl chr 4:157,615,687...157,623,061
|
|
G
|
Ncapd2
|
non-SMC condensin I complex, subunit D2
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,655,051...159,677,938
Ensembl chr 4:159,655,051...159,677,938
|
|
G
|
Ndufa9
|
NADH:ubiquinone oxidoreductase subunit A9
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:161,345,398...161,374,188
Ensembl chr 4:161,345,400...161,375,025
|
|
G
|
Necap1
|
NECAP endocytosis associated 1
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:157,775,890...157,790,992
Ensembl chr 4:157,775,896...157,790,984
|
|
G
|
Ninj2
|
ninjurin 2
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:154,978,660...155,080,860
Ensembl chr 4:155,073,295...155,080,860
|
|
G
|
Nop2
|
NOP2 nucleolar protein
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,618,894...159,630,697
Ensembl chr 4:159,618,966...159,630,697
|
|
G
|
Nrip2
|
nuclear receptor interacting protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:163,359,592...163,370,144
Ensembl chr 4:163,360,665...163,370,141
|
|
G
|
Ntf3
|
neurotrophin 3
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:160,601,161...160,670,623
Ensembl chr 4:160,600,770...160,676,349
|
|
G
|
P3h3
|
prolyl 3-hydroxylase 3
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,332,514...159,348,428
Ensembl chr 4:159,332,434...159,348,004
|
|
G
|
Parp11
|
poly (ADP-ribose) polymerase family, member 11
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:161,984,192...162,030,550
Ensembl chr 4:161,991,042...162,030,557
|
|
G
|
Pex5
|
peroxisomal biogenesis factor 5
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:158,956,973...158,983,581
Ensembl chr 4:158,956,974...158,982,733
|
|
G
|
Phb2
|
prohibitin 2
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,203,948...159,208,561
Ensembl chr 4:159,203,926...159,209,231
|
|
G
|
Phc1
|
polyhomeotic homolog 1
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:157,182,348...157,205,504
Ensembl chr 4:157,182,348...157,204,709
|
|
G
|
Pianp
|
PILR alpha associated neural protein
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,482,678...159,491,085
Ensembl chr 4:159,482,648...159,491,083
|
|
G
|
Plekhg6
|
pleckstrin homology and RhoGEF domain containing G6
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,849,987...159,885,730
Ensembl chr 4:159,849,364...159,868,122
|
|
G
|
Prmt8
|
protein arginine methyltransferase 8
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:162,221,986...162,304,036
Ensembl chr 4:162,221,986...162,307,310
|
|
G
|
Ptms
|
parathymosin
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,408,647...159,412,837
Ensembl chr 4:159,408,649...159,415,212
|
|
G
|
Ptpn6
|
protein tyrosine phosphatase, non-receptor type 6
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,212,320...159,237,069
Ensembl chr 4:159,212,320...159,237,069
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G
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Rad51ap1
|
RAD51 associated protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:161,445,610...161,458,661
Ensembl chr 4:161,445,512...161,458,680
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G
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Rad52
|
RAD52 homolog, DNA repair protein
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ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:154,778,320...154,802,002
Ensembl chr 4:154,778,320...154,800,021
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G
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Rhno1
|
RAD9-HUS1-RAD1 interacting nuclear orphan 1
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ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:163,320,141...163,325,527
Ensembl chr 4:163,320,049...163,325,790
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G
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Rimklb
|
ribosomal modification protein rimK-like family member B
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ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:157,336,950...157,396,970
Ensembl chr 4:157,344,414...157,378,727
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G
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Scarna10
|
small Cajal body-specific RNA 10
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ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,672,790...159,673,117
Ensembl chr 4:159,672,790...159,673,117
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G
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Scarna11
|
small Cajal body-specific RNA 11
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|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,609,251...159,609,386
Ensembl chr 4:159,609,251...159,609,386
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G
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Scnn1a
|
sodium channel epithelial 1 subunit alpha
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|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,809,187...159,832,409
Ensembl chr 4:159,809,170...159,832,405
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G
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Slc2a3
|
solute carrier family 2 member 3
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ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:157,632,887...157,698,034
Ensembl chr 4:157,632,887...157,646,186
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G
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Slc6a12
|
solute carrier family 6 member 12
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|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:156,257,518...156,275,870
Ensembl chr 4:156,254,208...156,275,879
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G
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Slc6a13
|
solute carrier family 6 member 13
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|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:156,211,381...156,248,491
Ensembl chr 4:156,211,462...156,248,489
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G
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Spsb2
|
splA/ryanodine receptor domain and SOCS box containing 2
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|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,298,362...159,301,568
Ensembl chr 4:159,299,159...159,309,021
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G
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Tapbpl
|
TAP binding protein-like
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|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,707,686...159,715,137
Ensembl chr 4:159,708,511...159,715,137
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G
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Tead4
|
TEA domain transcription factor 4
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|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:163,180,192...163,258,342
Ensembl chr 4:163,180,192...163,258,479
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G
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Tex52
|
testis expressed 52
|
|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:163,337,320...163,347,948
Ensembl chr 4:163,337,361...163,346,310
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G
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Tigar
|
TP53 induced glycolysis regulatory phosphatase
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|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:161,613,306...161,632,248
Ensembl chr 4:161,613,306...161,632,229
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G
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Tnfrsf1a
|
TNF receptor superfamily member 1A
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|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816
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G
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Tpi1
|
triosephosphate isomerase 1
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|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:159,301,562...159,305,413
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G
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Tspan9
|
tetraspanin 9
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|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:162,500,029...162,681,699
Ensembl chr 4:162,500,029...162,574,208
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G
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Tulp3
|
TUB like protein 3
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|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:163,276,583...163,318,297
Ensembl chr 4:163,276,583...163,318,390
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G
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Usp5
|
ubiquitin specific peptidase 5
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|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,305,927...159,321,345
Ensembl chr 4:159,305,938...159,320,956
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G
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Vamp1
|
vesicle-associated membrane protein 1
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|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
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NCBI chr 4:159,698,894...159,705,582
Ensembl chr 4:159,698,629...159,713,608
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G
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Vwf
|
von Willebrand factor
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ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:160,047,982...160,177,757
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G
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Wnk1
|
WNK lysine deficient protein kinase 1
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|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:154,800,590...154,926,147
Ensembl chr 4:154,800,590...154,926,147
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G
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Wnt5b
|
Wnt family member 5B
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|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:154,281,852...154,406,081
Ensembl chr 4:154,281,852...154,405,681
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G
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Zfp384
|
zinc finger protein 384
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|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
|
ClinVar |
PMID:25378588 PMID:29389098 |
|
NCBI chr 4:159,496,481...159,526,010
Ensembl chr 4:159,496,729...159,526,010
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|
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G
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Fgf23
|
fibroblast growth factor 23
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|
ISO
|
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 2
|
OMIM ClinVar |
PMID:11062477 PMID:15590700 PMID:15687325 PMID:16030159 PMID:16151858 PMID:18682534 PMID:18982401 PMID:19837926 PMID:22419710 PMID:24033266 PMID:25445451 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29389098 More...
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NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:161,600,383...161,609,991
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G
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Kl
|
Klotho
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ISO
|
ClinVar Annotator: match by term: KL-related condition | ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 3
|
OMIM ClinVar |
PMID:17710231 PMID:25741868 PMID:28492532 PMID:29389098 PMID:32870266 PMID:34906475 More...
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NCBI chr12:5,326,003...5,367,016
Ensembl chr12:5,325,959...5,367,015
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G
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Casr
|
calcium-sensing receptor
|
|
ISO
|
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypocalcemia
|
CTD ClinVar |
PMID:7874174 PMID:11701698 PMID:25741868 PMID:28492532 |
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NCBI chr11:77,738,398...77,813,639
Ensembl chr11:77,740,614...77,810,167
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G
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Pomc
|
proopiomelanocortin
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:3017235 |
|
NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173
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|
G
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Pth
|
parathyroid hormone
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:11701698 PMID:11770836 |
|
NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034
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|
G
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Tbx1
|
T-box transcription factor 1
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|
ISO
|
DNA:frameshift mutation:CDS:p.G387AfsX73 (human)
|
RGD |
PMID:32110744 |
RGD:155641234 |
NCBI chr11:95,913,610...95,923,392
Ensembl chr11:95,913,610...95,923,392
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|
G
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Adrb2
|
adrenoceptor beta 2
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:1848636 PMID:2826064 PMID:17292646 |
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NCBI chr18:57,912,760...57,914,802
Ensembl chr18:57,911,348...57,914,803
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G
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Agt
|
angiotensinogen
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|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:7182184 |
|
NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944
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|
G
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Akr1b1
|
aldo-keto reductase family 1 member B1
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IEP
|
|
RGD |
PMID:17409277 |
RGD:1626084 |
NCBI chr 4:63,899,222...63,913,315
Ensembl chr 4:63,899,222...63,913,315
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|
G
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Atp12a
|
ATPase H+/K+ transporting non-gastric alpha2 subunit
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|
IEP
|
|
RGD |
PMID:9729517 |
RGD:13838663 |
NCBI chr15:34,559,209...34,583,866
Ensembl chr15:34,559,209...34,583,866
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G
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Cldn10
|
claudin 10
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|
ISO
|
ClinVar Annotator: match by term: Hypokalemia
|
ClinVar |
PMID:25741868 |
|
NCBI chr15:102,269,858...102,361,589
Ensembl chr15:102,269,858...102,361,589
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G
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Ins2
|
insulin 2
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:496411 |
|
NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:207,272,742...207,273,805
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G
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Kcnj16
|
potassium inwardly-rectifying channel, subfamily J, member 16
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|
IMP
|
protein:decreased expression:cortical collecting duct, distal convoluted tubule (rat)
|
RGD |
PMID:28931751 |
RGD:38500204 |
NCBI chr10:96,489,329...96,520,745
Ensembl chr10:96,460,331...96,566,075
|
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G
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Kcnj16em1Mcwi
|
potassium inwardly-rectifying channel, subfamily J, member 16; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
|
|
IMP
|
compared to SS/JrHsdMcwi
|
RGD |
PMID:28931751 |
RGD:38500204 |
|
|
G
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Nppb
|
natriuretic peptide B
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:20339970 |
|
NCBI chr 5:163,699,955...163,701,314
Ensembl chr 5:163,699,839...163,701,310
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G
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Nr3c1
|
nuclear receptor subfamily 3, group C, member 1
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ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:11932321 |
|
NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,522,783...31,643,843
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G
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Pomc
|
proopiomelanocortin
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:323586 PMID:1327015 PMID:4323972 PMID:6254450 PMID:6258369 PMID:6279499 PMID:8035395 PMID:8562174 PMID:10100081 More...
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NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173
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G
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Rhcg
|
Rh family, C glycoprotein
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IEP
|
protein:increased expression:outer medulla of kidney
|
RGD |
PMID:21753075 |
RGD:9850155 |
NCBI chr 1:142,941,046...142,965,242
Ensembl chr 1:142,941,048...142,965,376
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G
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Slc12a3
|
solute carrier family 12 member 3
|
|
ISO
|
ClinVar Annotator: match by term: Hypokalemia
|
ClinVar |
PMID:8528245 PMID:9734597 PMID:10988270 PMID:12039972 PMID:17329572 PMID:18391953 PMID:21415153 PMID:22009145 PMID:23328711 PMID:25741868 PMID:26467025 PMID:26921350 PMID:28492532 PMID:29398133 PMID:35591852 PMID:35628451 More...
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NCBI chr19:10,636,594...10,690,008
Ensembl chr19:10,636,596...10,675,050
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G
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Sst
|
somatostatin
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|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:2563217 |
|
NCBI chr11:90,461,546...90,462,823
Ensembl chr11:90,461,546...90,462,823
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G
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Kcnj16
|
potassium inwardly-rectifying channel, subfamily J, member 16
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ISO
|
ClinVar Annotator: match by term: Hypokalemic tubulopathy and deafness
|
OMIM ClinVar |
PMID:25741868 PMID:33811157 |
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NCBI chr10:96,489,329...96,520,745
Ensembl chr10:96,460,331...96,566,075
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G
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Aloxe3
|
arachidonate epidermal lipoxygenase 3
|
|
ISO
|
ClinVar Annotator: match by term: Hypophosphatemia
|
ClinVar |
PMID:25741868 |
|
NCBI chr10:54,329,224...54,353,167
Ensembl chr10:54,329,043...54,353,166
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G
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Hes7
|
hes family bHLH transcription factor 7
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ISO
|
ClinVar Annotator: match by term: Hypophosphatemia
|
ClinVar |
PMID:25741868 |
|
NCBI chr10:54,322,971...54,327,776
Ensembl chr10:54,322,971...54,327,776
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G
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Nherf1
|
NHERF family PDZ scaffold protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Hypophosphatemia
|
ClinVar |
PMID:18784102 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28893421 |
|
NCBI chr10:100,902,165...100,919,265
Ensembl chr10:100,901,227...100,919,579
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G
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Nr1i2
|
nuclear receptor subfamily 1, group I, member 2
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:19898264 |
|
NCBI chr11:75,965,717...76,006,733
Ensembl chr11:75,965,632...76,002,380
|
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G
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Phex
|
phosphate regulating endopeptidase X-linked
|
|
ISO
|
ClinVar Annotator: match by term: Hypophosphatemia
|
ClinVar |
|
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NCBI chr X:41,422,561...41,671,226
Ensembl chr X:41,426,101...41,671,226
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G
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Slc34a1
|
solute carrier family 34 member 1
|
|
ISO IEP
|
CTD Direct Evidence: marker/mechanism protein:altered expression:renal cortex, brush border membrane (rat) mRNA:decreased expression:kidney (mouse)
|
CTD RGD |
PMID:9560283 PMID:19515808 PMID:20466874 PMID:9560283 PMID:19933269 |
RGD:7242939, RGD:7243098, RGD:7243007, RGD:7242942 |
NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983
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|
G
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F12
|
coagulation factor XII
|
|
ISO
|
ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic
|
ClinVar |
PMID:24033266 PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 |
|
NCBI chr17:9,212,819...9,220,664
Ensembl chr17:9,212,819...9,220,664
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G
|
Nherf1
|
NHERF family PDZ scaffold protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Dominant hypophosphatemia with nephrolithiasis or osteoporosis
|
ClinVar |
PMID:18784102 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28893421 |
|
NCBI chr10:100,902,165...100,919,265
Ensembl chr10:100,901,227...100,919,579
|
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G
|
Slc34a1
|
solute carrier family 34 member 1
|
|
ISO
|
ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic
|
ClinVar |
PMID:24033266 PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 |
|
NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983
|
|
|
G
|
F12
|
coagulation factor XII
|
|
ISO
|
ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1
|
ClinVar |
PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 |
|
NCBI chr17:9,212,819...9,220,664
Ensembl chr17:9,212,819...9,220,664
|
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G
|
Slc34a1
|
solute carrier family 34 member 1
|
|
ISO
|
ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1
|
OMIM ClinVar |
PMID:9536098 PMID:12324554 PMID:14672348 PMID:16199547 PMID:16688119 PMID:17576681 PMID:21597970 PMID:24033266 PMID:25050900 PMID:25082825 PMID:25296721 PMID:25741868 PMID:26047794 PMID:26272126 PMID:26787776 PMID:26920127 PMID:27378183 PMID:28492532 PMID:28893421 PMID:29924459 PMID:29959532 PMID:30778725 PMID:30943683 PMID:31188746 PMID:31672324 PMID:33099630 PMID:33226606 PMID:33536578 PMID:33964006 PMID:34805638 More...
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|
NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983
|
|
G
|
Slc34a3
|
solute carrier family 34 member 3
|
|
ISO
|
ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1
|
ClinVar |
PMID:25741868 PMID:28492532 PMID:31672324 |
|
NCBI chr 3:28,442,455...28,447,997
Ensembl chr 3:28,442,457...28,447,997
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|
|
G
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Nherf1
|
NHERF family PDZ scaffold protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 2 | ClinVar Annotator: match by term: NHERF1-related condition
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OMIM ClinVar |
PMID:18784102 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28893421 PMID:30863428 More...
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NCBI chr10:100,902,165...100,919,265
Ensembl chr10:100,901,227...100,919,579
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G
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Clcn5
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chloride voltage-gated channel 5
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ISO
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ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets
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ClinVar |
PMID:9734595 PMID:10469281 PMID:16822791 PMID:16861240 PMID:22876375 PMID:24081861 PMID:25741868 PMID:25907713 PMID:28492532 More...
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NCBI chr X:17,857,260...18,011,844
Ensembl chr X:17,857,260...18,011,844
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G
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Dmp1
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dentin matrix acidic phosphoprotein 1
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ISO
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ClinVar Annotator: match by term: Hypophosphatemic rickets
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ClinVar |
PMID:24033266 PMID:25741868 PMID:35738466 |
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NCBI chr14:5,833,111...5,867,154
Ensembl chr14:5,833,111...5,843,993
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G
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Enpp1
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ectonucleotide pyrophosphatase/phosphodiesterase 1
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ISO
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ClinVar Annotator: match by term: Hypophosphatemic rickets
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ClinVar |
PMID:10480624 PMID:11739459 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:16025115 PMID:16607460 PMID:16968801 PMID:18950909 PMID:20981035 PMID:25741868 PMID:27238374 PMID:28492532 PMID:29979387 PMID:35738466 More...
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NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044
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G
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Fam20c
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FAM20C, golgi associated secretory pathway kinase
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ISO
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RGD |
PMID:22615579 |
RGD:11558021 |
NCBI chr12:20,940,654...20,999,072
Ensembl chr12:20,940,654...20,998,318
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G
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Fgf23
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fibroblast growth factor 23
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ISO
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ClinVar Annotator: match by term: Hypophosphatemic rickets
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ClinVar RGD |
PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 PMID:12130585 PMID:12711740 PMID:12851820 PMID:12874285 PMID:15182416 PMID:15590700 PMID:15628294 PMID:15836777 PMID:15885032 PMID:16436388 PMID:17227222 PMID:17452648 PMID:17623664 PMID:17992255 PMID:18682534 PMID:21880793 PMID:25741868 PMID:26186302 PMID:28492532 PMID:35738466 PMID:14988389 More...
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RGD:10044208 |
NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:161,600,383...161,609,991
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G
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Hras
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HRas proto-oncogene, GTPase
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ISO
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ClinVar Annotator: match by term: Hypophosphatemic rickets
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ClinVar |
PMID:25741868 PMID:35738466 |
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NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:205,725,975...205,729,590
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G
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Lrrc56
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leucine rich repeat containing 56
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ISO
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ClinVar Annotator: match by term: Hypophosphatemic rickets
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ClinVar |
PMID:25741868 PMID:35738466 |
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NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:205,729,409...205,744,759
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G
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Phex
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phosphate regulating endopeptidase X-linked
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ISO
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ClinVar Annotator: match by term: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets
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ClinVar |
PMID:9097956 PMID:9106524 PMID:9199930 PMID:9768674 PMID:10737991 PMID:11004247 PMID:11468271 PMID:11502829 PMID:12414858 PMID:12727977 PMID:16199547 PMID:16636593 PMID:18162710 PMID:18625346 PMID:19219621 PMID:21902834 PMID:21994957 PMID:22261628 PMID:22319799 PMID:22695891 PMID:23079138 PMID:23466123 PMID:24684036 PMID:24836714 PMID:25031893 PMID:25042154 PMID:25741868 PMID:26040324 PMID:26377240 PMID:26467025 PMID:27840894 PMID:28492532 PMID:29460029 PMID:29505567 PMID:29707405 PMID:29858904 PMID:30298486 PMID:30607568 PMID:30682568 PMID:31910300 PMID:32329911 PMID:34633109 PMID:34806794 PMID:35738466 PMID:36482408 PMID:36530187 PMID:37059315 More...
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NCBI chr X:41,422,561...41,671,226
Ensembl chr X:41,426,101...41,671,226
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G
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Phyh
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phytanoyl-CoA 2-hydroxylase
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ISO
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ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS
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ClinVar |
PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 PMID:27535533 PMID:28492532 PMID:34426522 More...
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NCBI chr17:78,238,747...78,255,645
Ensembl chr17:78,238,747...78,255,645
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G
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Prss1
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serine protease 1
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ISO
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ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS
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ClinVar |
PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 PMID:10204851 PMID:10514442 PMID:10691414 PMID:10801865 PMID:10835640 PMID:10872414 PMID:10909845 PMID:10982753 PMID:11097832 PMID:11247900 PMID:11312265 PMID:11719509 PMID:11788572 PMID:11842279 PMID:11932257 PMID:11950817 PMID:12011155 PMID:12853682 PMID:15028953 PMID:15776435 PMID:15786540 PMID:16632094 PMID:17204147 PMID:17568390 PMID:18286680 PMID:18511571 PMID:18755888 PMID:19453252 PMID:21415673 PMID:22379635 PMID:22539344 PMID:23143602 PMID:24002981 PMID:24458023 PMID:24525505 PMID:25741868 PMID:27578509 PMID:27673710 PMID:28492532 PMID:28861620 PMID:30420730 More...
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NCBI chr 4:71,331,249...71,334,452
Ensembl chr 4:71,331,246...71,334,452
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G
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Vdr
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vitamin D receptor
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ISO
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ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets
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ClinVar |
PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 PMID:2849209 PMID:3024987 PMID:8392085 PMID:8675579 PMID:8862631 PMID:8961271 PMID:9005998 PMID:9284761 PMID:9360557 PMID:9495519 PMID:9536098 PMID:10204116 PMID:10707958 PMID:11564167 PMID:15308610 PMID:17130574 PMID:17371163 PMID:17576681 PMID:17970811 PMID:18159135 PMID:18279374 PMID:18593774 PMID:19049339 PMID:19169476 PMID:19682379 PMID:20200114 PMID:21073129 PMID:21168462 PMID:21424181 PMID:21931507 PMID:22145479 PMID:23180655 PMID:24033266 PMID:24246681 PMID:24859502 PMID:25741868 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26787776 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28377956 PMID:28492532 PMID:28620554 PMID:29949513 PMID:30967742 PMID:31557081 PMID:32997713 PMID:35738466 PMID:36705686 PMID:37080976 More...
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NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757
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G
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Wdr72
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WD repeat domain 72
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ISO
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ClinVar Annotator: match by term: Hypophosphatemic rickets
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ClinVar |
PMID:31959358 |
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NCBI chr 8:83,718,897...83,902,128
Ensembl chr 8:83,718,914...83,900,286
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G
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Dmp1
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dentin matrix acidic phosphoprotein 1
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ISO
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ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:16294270 PMID:17033621 PMID:17033625 PMID:17576681 PMID:19007919 PMID:21050253 PMID:23038738 PMID:25180662 PMID:25741868 PMID:28492532 PMID:35313637 PMID:36334264 More...
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NCBI chr14:5,833,111...5,867,154
Ensembl chr14:5,833,111...5,843,993
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G
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Enpp1
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ectonucleotide pyrophosphatase/phosphodiesterase 1
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susceptibility
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ISO
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ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.Y901S (human)
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OMIM ClinVar CTD RGD |
PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15605415 PMID:15677494 PMID:16025115 PMID:16315058 PMID:16369898 PMID:16607460 PMID:16609882 PMID:16968801 PMID:18950909 PMID:19229237 PMID:20016754 PMID:20137772 PMID:20137773 PMID:20981035 PMID:22539483 PMID:24033266 PMID:25741868 PMID:26857895 PMID:27238374 PMID:27467858 PMID:28377967 PMID:28492532 PMID:28973083 PMID:29244957 PMID:29979387 PMID:31826312 PMID:33005041 PMID:34609116 PMID:35738466 PMID:20137773 PMID:20137772 More...
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RGD:6906930, RGD:6906931 |
NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044
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G
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Chrna6
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cholinergic receptor nicotinic alpha 6 subunit
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ISO
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ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
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ClinVar |
PMID:27726124 |
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NCBI chr16:71,400,615...71,407,315
Ensembl chr16:71,400,615...71,407,315
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G
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Chrnb3
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cholinergic receptor nicotinic beta 3 subunit
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ISO
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ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
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ClinVar |
PMID:27726124 |
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NCBI chr16:71,411,847...71,454,225
Ensembl chr16:71,417,039...71,454,225
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G
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Duox2
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dual oxidase 2
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ISO
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ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
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ClinVar |
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NCBI chr 3:129,680,543...129,698,886
Ensembl chr 3:129,680,546...129,699,203
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G
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Fnta
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farnesyltransferase, CAAX box, subunit alpha
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ISO
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ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
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ClinVar |
PMID:27726124 |
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NCBI chr16:72,767,864...72,786,193
Ensembl chr16:72,767,627...72,788,229
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G
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Hook3
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hook microtubule-tethering protein 3
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ISO
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ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
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ClinVar |
PMID:27726124 |
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NCBI chr16:72,656,929...72,751,696
Ensembl chr16:72,657,019...72,764,071
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G
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Myorg
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myogenesis regulating glycosidase
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ISO
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ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
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ClinVar |
PMID:25741868 |
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NCBI chr 5:61,452,956...61,460,500
Ensembl chr 5:61,432,418...61,460,581
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G
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Pdgfb
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platelet derived growth factor subunit B
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
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CTD ClinVar |
PMID:23913003 PMID:25741868 |
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NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:113,420,710...113,438,343
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G
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Pdgfrb
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platelet derived growth factor receptor beta
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 3
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CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233
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G
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Rnf170
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ring finger protein 170
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ISO
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ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
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ClinVar |
PMID:27726124 |
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NCBI chr16:72,631,638...72,656,893
Ensembl chr16:72,631,638...72,656,469
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G
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Slc20a2
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solute carrier family 20 member 2
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ISO
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ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 | ClinVar Annotator: match by term: SLC20A2-related condition CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:10441584 PMID:11344012 PMID:11810290 PMID:15596772 PMID:16199547 PMID:18361429 PMID:20301594 PMID:20552677 PMID:22327515 PMID:23334463 PMID:23437308 PMID:23939468 PMID:24209445 PMID:24463626 PMID:25178512 PMID:25284758 PMID:25741868 PMID:26475232 PMID:27671522 PMID:27726124 PMID:27943094 PMID:28391956 PMID:28477710 PMID:28492532 PMID:29955172 PMID:30609140 PMID:30704756 PMID:31003906 PMID:31501477 PMID:31618668 PMID:32705272 PMID:33471268 PMID:34732400 PMID:36135330 PMID:39825153 More...
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NCBI chr16:76,163,315...76,253,881
Ensembl chr16:76,162,922...76,253,881
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G
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Smim19
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small integral membrane protein 19
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ISO
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ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
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ClinVar |
PMID:25741868 PMID:27726124 |
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NCBI chr16:76,245,838...76,266,786
Ensembl chr16:76,253,443...76,267,911
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G
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Thap1
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THAP domain containing 1
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ISO
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ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
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ClinVar |
PMID:27726124 |
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NCBI chr16:72,608,096...72,612,690
Ensembl chr16:72,607,305...72,612,690
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G
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Cmpk2
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cytidine/uridine monophosphate kinase 2
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ISO
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ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 10, autosomal recessive
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OMIM ClinVar |
PMID:36443312 |
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NCBI chr 6:48,802,150...48,813,652
Ensembl chr 6:48,802,321...48,813,652
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G
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Pdgfrb
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platelet derived growth factor receptor beta
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ISO
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ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4
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OMIM ClinVar |
PMID:9536098 PMID:12181311 PMID:15054839 PMID:16199547 PMID:17576681 PMID:20301594 PMID:23255827 PMID:23731537 PMID:23731542 PMID:24796542 PMID:25292412 PMID:25356970 PMID:25741868 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28417142 PMID:28492532 PMID:28639748 PMID:28726812 PMID:30573803 PMID:30941910 PMID:31004414 PMID:31064749 PMID:31474318 PMID:34494111 PMID:39580648 More...
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NCBI chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233
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G
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Pdgfb
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platelet derived growth factor subunit B
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ISO
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ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5
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OMIM ClinVar |
PMID:20301594 PMID:21409505 PMID:23913003 PMID:25211641 PMID:25741868 PMID:26599395 PMID:28492532 PMID:29955172 PMID:35747618 More...
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NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:113,420,710...113,438,343
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G
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Xpr1
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xenotropic and polytropic retrovirus receptor 1
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ISO
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ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 | ClinVar Annotator: match by term: XPR1-related condition | ClinVar Annotator: match by term: XPR1-related primary familial brain calcification
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OMIM ClinVar |
PMID:886353 PMID:25741868 PMID:25938945 PMID:28492532 PMID:31003906 |
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NCBI chr13:69,991,517...70,136,249
Ensembl chr13:69,996,692...70,136,164
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G
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Myorg
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myogenesis regulating glycosidase
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ISO
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ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive | ClinVar Annotator: match by term: MYORG-related condition
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OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29910000 PMID:30460687 PMID:30589467 PMID:30649222 PMID:30656188 PMID:31009047 PMID:31440850 PMID:31951047 PMID:32211515 More...
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NCBI chr 5:61,452,956...61,460,500
Ensembl chr 5:61,432,418...61,460,581
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G
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Jam2
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junctional adhesion molecule 2
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ISO
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ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 8, autosomal recessive | ClinVar Annotator: match by term: JAM2-related condition
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OMIM ClinVar |
PMID:25741868 PMID:26136916 PMID:31851307 PMID:32142645 |
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NCBI chr11:37,316,287...37,366,517
Ensembl chr11:37,317,511...37,367,510
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G
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Naa60
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N(alpha)-acetyltransferase 60, NatF catalytic subunit
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ISO
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ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 9, autosomal recessive
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ClinVar OMIM |
PMID:38480682 |
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NCBI chr10:12,129,026...12,149,053
Ensembl chr10:12,131,429...12,139,262
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G
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Ifih1
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interferon induced with helicase C domain 1
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ISO
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ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, childhood-onset | ClinVar Annotator: match by term: Cerebral calcification nonarteriosclerotic idiopathic childhood-onset
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:67,637,545...67,683,968
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G
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Acap3
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ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
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ISO
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ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,783,382...171,797,709
Ensembl chr 5:171,783,382...171,798,191
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G
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Actrt2
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actin-related protein T2
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ISO
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ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,518,470...170,519,870
Ensembl chr 5:170,518,165...170,521,164
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G
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Agrn
|
agrin
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ISO
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ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:172,031,528...172,064,429
Ensembl chr 5:172,031,528...172,064,539
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G
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Ankrd65
|
ankyrin repeat domain 65
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,680,597...171,682,854
Ensembl chr 5:171,680,597...171,683,431
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G
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Arhgef16
|
Rho guanine nucleotide exchange factor 16
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,126,573...170,148,624
Ensembl chr 5:170,126,575...170,148,624
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G
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Atad3a
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ATPase family, AAA domain containing 3A
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ISO
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ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,632,545...171,652,725
Ensembl chr 5:171,632,547...171,652,725
|
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G
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B3galt6
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Beta-1,3-galactosyltransferase 6
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,866,428...171,868,564
Ensembl chr 5:171,864,094...171,874,789
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G
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C1qtnf12
|
C1q and TNF related 12
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,833,854...171,838,229
Ensembl chr 5:171,833,854...171,838,800
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G
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C5h1orf159
|
similar to human chromosome 1 open reading frame 159
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,983,700...172,001,373
Ensembl chr 5:171,983,936...172,001,373
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G
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Ccdc27
|
coiled-coil domain containing 27
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:169,867,706...169,881,820
Ensembl chr 5:169,867,709...169,881,888
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G
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Ccnl2
|
cyclin L2
|
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,698,951...171,711,037
Ensembl chr 5:171,699,689...171,711,231
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G
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Cdk11b
|
cyclin-dependent kinase 11B
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,495,042...171,521,143
Ensembl chr 5:171,495,776...171,521,145
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G
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Cep104
|
centrosomal protein 104
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:169,817,383...169,849,681
Ensembl chr 5:169,817,182...169,852,695
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G
|
Cfap74
|
cilia and flagella associated protein 74
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,252,907...171,328,351
Ensembl chr 5:171,262,113...171,328,349
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G
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Cptp
|
ceramide-1-phosphate transfer protein
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,757,181...171,761,271
Ensembl chr 5:171,757,181...171,761,266
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G
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Dvl1
|
dishevelled segment polarity protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:171,738,911...171,750,967
Ensembl chr 5:171,739,133...171,750,966
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G
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Faap20
|
FA core complex associated protein 20
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:171,083,328...171,097,599
Ensembl chr 5:171,087,847...171,097,599
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G
|
Fndc10
|
fibronectin type III domain containing 10
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:171,581,960...171,584,519
Ensembl chr 5:171,580,033...171,595,399
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G
|
Gabrd
|
gamma-aminobutyric acid type A receptor subunit delta
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:171,240,813...171,252,709
Ensembl chr 5:171,240,789...171,253,094
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G
|
Gnb1
|
G protein subunit beta 1
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:171,357,797...171,424,488
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G
|
Hes5
|
hes family bHLH transcription factor 5
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:170,804,511...170,807,988
Ensembl chr 5:170,803,940...170,806,021
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G
|
Ints11
|
integrator complex subunit 11
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:171,761,370...171,779,883
Ensembl chr 5:171,761,371...171,779,883
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G
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Isg15
|
ISG15 ubiquitin-like modifier
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
OMIM ClinVar |
PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 PMID:21031596 PMID:22859821 PMID:24033266 PMID:25307056 PMID:25741868 PMID:26477546 PMID:28492532 PMID:31674007 PMID:32402279 More...
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NCBI chr 5:172,066,369...172,067,656
Ensembl chr 5:172,066,369...172,067,656
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G
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Klhl17
|
kelch-like family member 17
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:172,095,701...172,101,945
Ensembl chr 5:172,094,940...172,101,195
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G
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Lrrc47
|
leucine rich repeat containing 47
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:169,852,926...169,862,598
Ensembl chr 5:169,852,897...169,862,598
|
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G
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Megf6
|
multiple EGF-like-domains 6
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:170,020,699...170,121,557
Ensembl chr 5:170,020,778...170,121,554
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G
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Mib2
|
MIB E3 ubiquitin protein ligase 2
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:171,526,037...171,542,479
Ensembl chr 5:171,526,037...171,541,910
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G
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Mir200a
|
microRNA 200a
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,930,717...171,930,805
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G
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Mir200b
|
microRNA 200b
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:171,931,495...171,931,589
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G
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Mir429
|
microRNA 429
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:171,929,682...171,929,766
|
|
G
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Mmel1
|
membrane metallo-endopeptidase-like 1
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,713,602...170,744,058
Ensembl chr 5:170,713,627...170,744,058
|
|
G
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Mmp23
|
matrix metallopeptidase 23
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,521,905...171,525,007
Ensembl chr 5:171,520,494...171,524,695
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G
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Morn1
|
MORN repeat containing 1
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:170,928,086...170,987,219
Ensembl chr 5:170,929,321...170,987,218
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|
G
|
Mrpl20
|
mitochondrial ribosomal protein L20
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,690,664...171,695,728
Ensembl chr 5:171,691,198...171,695,728
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G
|
Mxra8
|
matrix remodeling associated 8
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:171,731,153...171,735,879
Ensembl chr 5:171,731,353...171,735,879
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|
G
|
Nadk
|
NAD kinase
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:171,427,973...171,458,586
Ensembl chr 5:171,428,000...171,458,579
|
|
G
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Noc2l
|
NOC2-like nucleolar associated transcriptional repressor
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:172,102,369...172,114,168
Ensembl chr 5:172,101,223...172,114,162
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G
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Pank4
|
pantothenate kinase 4
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,807,744...170,824,478
Ensembl chr 5:170,807,745...170,824,477
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G
|
Pex10
|
peroxisomal biogenesis factor 10
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,910,136...170,915,302
Ensembl chr 5:170,910,157...170,916,685
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G
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Plch2
|
phospholipase C, eta 2
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,826,543...170,885,012
Ensembl chr 5:170,826,543...170,885,152
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G
|
Plekhn1
|
pleckstrin homology domain containing N1
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:172,087,524...172,095,566
Ensembl chr 5:172,087,055...172,095,374
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G
|
Prdm16
|
PR/SET domain 16
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,162,275...170,486,371
Ensembl chr 5:170,162,275...170,485,804
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G
|
Prkcz
|
protein kinase C, zeta
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,101,774...171,212,694
Ensembl chr 5:171,101,774...171,212,674
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G
|
Prxl2b
|
peroxiredoxin like 2B
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,744,953...170,747,556
Ensembl chr 5:170,744,953...170,747,556
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G
|
Pusl1
|
pseudouridine synthase like 1
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:171,773,284...171,782,893
Ensembl chr 5:171,773,331...171,783,339
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G
|
Rer1
|
retention in endoplasmic reticulum sorting receptor 1
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:170,916,643...170,929,073
Ensembl chr 5:170,916,905...170,928,980
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G
|
Rnf223
|
ring finger protein 223
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:172,005,566...172,008,456
Ensembl chr 5:172,005,566...172,008,458
|
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G
|
Samd11
|
sterile alpha motif domain containing 11
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:172,113,900...172,142,026
Ensembl chr 5:172,113,654...172,131,927
|
|
G
|
Sdf4
|
stromal cell derived factor 4
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,868,591...171,885,827
Ensembl chr 5:171,868,563...171,888,884
|
|
G
|
Ski
|
Ski proto-oncogene
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:170,995,851...171,064,957
|
|
G
|
Slc35e2b
|
solute carrier family 35, member E2B
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,465,222...171,493,317
Ensembl chr 5:171,475,386...171,493,315
|
|
G
|
Smim1
|
small integral membrane protein 1 (Vel blood group)
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:169,861,751...169,867,070
Ensembl chr 5:169,864,251...169,866,942
|
|
G
|
Ssu72
|
SSU72 homolog, RNA polymerase II CTD phosphatase
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:171,595,919...171,625,675
Ensembl chr 5:171,595,851...171,625,268
|
|
G
|
Tas1r3
|
taste 1 receptor member 3
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,750,937...171,754,993
Ensembl chr 5:171,750,937...171,754,993
|
|
G
|
Tmem240
|
transmembrane protein 240
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,625,830...171,653,836
Ensembl chr 5:171,626,275...171,633,044
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G
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Tmem278
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transmembrane protein 278
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,673,319...171,676,143
Ensembl chr 5:171,673,319...171,676,143
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G
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Tmem52
|
transmembrane protein 52
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,330,948...171,332,704
Ensembl chr 5:171,330,966...171,332,704
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G
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Tnfrsf14
|
TNF receptor superfamily member 14
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,768,413...170,776,749
Ensembl chr 5:170,768,416...170,776,046
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G
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Tnfrsf18
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TNF receptor superfamily member 18
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,901,734...171,904,578
Ensembl chr 5:171,901,717...171,904,576
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G
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Tnfrsf4
|
TNF receptor superfamily member 4
|
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,889,134...171,891,824
Ensembl chr 5:171,889,117...171,892,616
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G
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Tp73
|
tumor protein p73
|
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:169,903,801...169,963,552
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G
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Tprg1l
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tumor protein p63 regulated 1-like
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|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,004,577...170,007,784
Ensembl chr 5:170,004,577...170,007,983
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G
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Ttc34
|
tetratricopeptide repeat domain 34
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,693,410...170,711,215
Ensembl chr 5:170,693,402...170,710,368
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G
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Ttll10
|
tubulin tyrosine ligase like 10
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
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NCBI chr 5:171,912,371...171,937,733
Ensembl chr 5:171,912,376...171,926,337
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G
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Ube2j2
|
ubiquitin-conjugating enzyme E2, J2
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|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,815,607...171,830,037
Ensembl chr 5:171,815,623...171,830,034
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G
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Vwa1
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von Willebrand factor A domain containing 1
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,659,694...171,664,880
Ensembl chr 5:171,659,698...171,664,880
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G
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Wrap73
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WD repeat containing, antisense to TP73
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:169,988,538...170,004,071
Ensembl chr 5:169,988,553...170,004,069
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G
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Cyp24a1
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cytochrome P450, family 24, subfamily a, polypeptide 1
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Infantile hypercalcemia
|
CTD ClinVar |
PMID:25741868 |
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NCBI chr 3:179,694,647...179,709,083
Ensembl chr 3:179,694,647...179,709,083
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G
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Slc34a1
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solute carrier family 34 member 1
|
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ISO
|
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypercalcemia, infantile
|
CTD ClinVar |
PMID:24033266 PMID:25741868 PMID:26047794 PMID:28492532 |
|
NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983
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|
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G
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Cyp24a1
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cytochrome P450, family 24, subfamily a, polypeptide 1
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ISO
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ClinVar Annotator: match by term: Hypercalcemia, infantile, 1
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OMIM ClinVar |
PMID:3490596 PMID:19961857 PMID:21675912 PMID:22047571 PMID:22100522 PMID:22112808 PMID:23001465 PMID:23293122 PMID:23423976 PMID:23470222 PMID:23485543 PMID:24033266 PMID:24518185 PMID:25194629 PMID:25375986 PMID:25446019 PMID:25741868 PMID:26097993 PMID:26117226 PMID:26214117 PMID:26787776 PMID:26846157 PMID:27394135 PMID:27639704 PMID:27798933 PMID:28109821 PMID:28470390 PMID:28492532 PMID:31194111 PMID:32375123 PMID:33099630 PMID:33864587 PMID:33952337 PMID:34307984 PMID:34662328 PMID:34721296 PMID:34858904 PMID:35569070 PMID:35956396 PMID:36703897 PMID:37358380 PMID:37701149 PMID:38665259 More...
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NCBI chr 3:179,694,647...179,709,083
Ensembl chr 3:179,694,647...179,709,083
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G
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Kl
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Klotho
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ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:20394945 |
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NCBI chr12:5,326,003...5,367,016
Ensembl chr12:5,325,959...5,367,015
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|
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G
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Slc34a1
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solute carrier family 34 member 1
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|
ISO
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ClinVar Annotator: match by term: Hypercalcemia, infantile, 2
|
OMIM ClinVar |
PMID:9536098 PMID:12324554 PMID:16199547 PMID:16688119 PMID:17576681 PMID:20466674 PMID:21597970 PMID:24033266 PMID:25296721 PMID:25741868 PMID:26047794 PMID:26787776 PMID:27378183 PMID:28492532 PMID:28893421 PMID:29924459 PMID:29959532 PMID:31188746 PMID:31672324 PMID:33099630 PMID:33226606 PMID:33536578 PMID:34805638 More...
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NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983
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G
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Trpm6
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transient receptor potential cation channel, subfamily M, member 6
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 | ClinVar Annotator: match by term: TRPM6-related condition
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OMIM CTD ClinVar |
PMID:9285786 PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 PMID:23942199 PMID:24030239 PMID:24985022 PMID:25741868 PMID:26813946 PMID:28492532 PMID:33565749 PMID:34906502 More...
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NCBI chr 1:225,559,528...225,747,106
Ensembl chr 1:225,576,872...225,747,108
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G
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Trpm7
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transient receptor potential cation channel, subfamily M, member 7
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ISO
|
ClinVar Annotator: match by term: Intestinal hypomagnesemia 1
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ClinVar |
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NCBI chr 3:134,499,617...134,588,113
Ensembl chr 3:134,499,617...134,588,113
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G
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App
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amyloid beta precursor protein
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IEP
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mRNA:decreased expression:hippocampus:
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RGD |
PMID:18723004 |
RGD:2301196 |
NCBI chr11:37,506,207...37,724,351
Ensembl chr11:37,506,408...37,722,971
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G
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Atp7a
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ATPase copper transporting alpha
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severity
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ISO IEP
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mRNA:increased expression:duodenum (mouse) DNA:deletion:cds:p.A799_L800del (mouse) mRNA:increased expression:small intestine mucosa (rat)
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RGD |
PMID:23776592 PMID:23776592 PMID:15637178 |
RGD:11252172, RGD:11252172, RGD:2315589 |
NCBI chr X:75,159,635...75,267,094
Ensembl chr X:75,159,782...75,267,093
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G
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C1qa
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complement C1q A chain
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IEP
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mRNA:increased expression:hippocampus:
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RGD |
PMID:18723004 |
RGD:2301196 |
NCBI chr 5:154,417,086...154,419,933
Ensembl chr 5:154,417,087...154,427,732
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G
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Crp
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C-reactive protein
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IEP
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protein:increased expression:plasma
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RGD |
PMID:19730160 |
RGD:5131463 |
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514
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G
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Cst3
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cystatin C
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IEP
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mRNA:increased expression:hippocampus (rat)
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RGD |
PMID:18723004 |
RGD:2301196 |
NCBI chr 3:156,790,061...156,794,116
Ensembl chr 3:156,790,079...156,793,937
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G
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Fn1
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fibronectin 1
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IEP
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mRNA:increased expression:hippocampus:
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RGD |
PMID:18723004 |
RGD:2301196 |
NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:80,645,507...80,714,137
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G
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Gpx1
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glutathione peroxidase 1
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treatment
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IEP ISO
|
associated with Renal Insufficiency, Chronic
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RGD |
PMID:7861256 PMID:24691014 |
RGD:11352760, RGD:11352819 |
NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:117,905,280...117,906,581
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G
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Gsr
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glutathione-disulfide reductase
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ISO
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protein:increased activity:plasma:
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RGD |
PMID:25097522 |
RGD:11059505 |
NCBI chr16:65,185,574...65,228,742
Ensembl chr16:65,185,574...65,228,394
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G
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Hamp
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hepcidin antimicrobial peptide
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ISO IEP
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mRNA:decreased expression:liver
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RGD |
PMID:17218383 PMID:22457245 |
RGD:11041606, RGD:11041634 |
NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297
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G
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Hfe
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homeostatic iron regulator
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ISO
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associated with celiac disease;DNA:missense mutations: :p.H63D, p.C282Y (human)
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RGD |
PMID:29194702 |
RGD:14701052 |
NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,841,252...41,851,208
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G
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Hp
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haptoglobin
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ISO
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protein:decreased expression:serum
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RGD |
PMID:647925 |
RGD:11041798 |
NCBI chr19:54,449,151...54,453,701
Ensembl chr19:54,446,217...54,467,518
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G
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Il6
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interleukin 6
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treatment
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IEP
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associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat)
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RGD |
PMID:18808386 PMID:31524964 |
RGD:11062011, RGD:598092517 |
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
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G
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Ireb2
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iron responsive element binding protein 2
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IEP
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mRNA:increased expression:duodenal mucosa (rat) protein:altered activity:intestinal villus of duodenum (rat)
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RGD |
PMID:18549630 PMID:10095770 |
RGD:12904038, RGD:12910699 |
NCBI chr 8:64,124,152...64,207,702
Ensembl chr 8:64,154,945...64,205,520
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G
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Itga2
|
integrin subunit alpha 2
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|
ISO
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DNA:SNP: :807C>T (human)
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RGD |
PMID:12225391 |
RGD:11530068 |
NCBI chr 2:48,253,412...48,354,509
Ensembl chr 2:48,253,412...48,354,509
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G
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Kat5
|
lysine acetyltransferase 5
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IEP
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mRNA:increased expression:hippocampus (rat)
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RGD |
PMID:18723004 |
RGD:2301196 |
NCBI chr 1:212,325,089...212,332,640
Ensembl chr 1:212,325,090...212,332,587
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G
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Mb
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myoglobin
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IEP
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protein:decreased expression:skeletal muscle
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RGD |
PMID:956378 |
RGD:488078620 |
NCBI chr 7:110,640,511...110,647,742
Ensembl chr 7:110,640,512...110,647,958
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G
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Pon1
|
paraoxonase 1
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treatment
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ISO
|
protein:decreased activity:serum (human)
|
RGD |
PMID:16684543 PMID:26926576 |
RGD:11552586, RGD:11553834 |
NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:34,261,289...34,287,924
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G
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Slc11a2
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solute carrier family 11 member 2
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IEP ISO
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protein:increased expression:nasal cavity olfactory epithelium CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:17116712 PMID:17116743 |
RGD:2311409 |
NCBI chr 7:133,381,878...133,429,921
Ensembl chr 7:133,381,878...133,418,941
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G
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Slc4a1
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solute carrier family 4 member 1 (Diego blood group)
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IEP
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protein:decreased expression:erythrocyte, membrane (rat)
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RGD |
PMID:1317772 |
RGD:10450513 |
NCBI chr10:87,807,010...87,823,274
Ensembl chr10:87,807,013...87,823,258
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G
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Sod1
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superoxide dismutase 1
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:17057260 |
|
NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399
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G
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Tf
|
transferrin
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susceptibility
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ISO
|
DNA:missense mutation:exon:p.G277S ClinVar Annotator: match by term: Iron deficiency anemia
|
ClinVar RGD |
PMID:11703331 PMID:12752114 PMID:16398662 PMID:25741868 PMID:28492532 PMID:11703331 More...
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RGD:1601513 |
NCBI chr 8:112,668,667...112,695,376
Ensembl chr 8:112,647,642...112,695,400
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G
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Tfrc
|
transferrin receptor
|
|
ISO
|
protein:increased expression:serum: CTD Direct Evidence: marker/mechanism mRNA:increased expression:placenta:
|
CTD RGD |
PMID:16733738 PMID:17162259 PMID:17163184 PMID:15104997 PMID:17877204 PMID:26303393 More...
|
RGD:11062096, RGD:11062105, RGD:11062104 |
NCBI chr11:81,668,478...81,690,318
Ensembl chr11:81,668,478...81,690,318
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G
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Tmprss6
|
transmembrane serine protease 6
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:18408718 PMID:22169218 |
|
NCBI chr 7:111,871,504...111,902,127
Ensembl chr 7:111,871,031...111,902,116
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G
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Tnf
|
tumor necrosis factor
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|
ISO
|
DNA:SNP:promoter:rs1800629 (human)
|
RGD |
PMID:18716131 |
RGD:10450563 |
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
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G
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Clu
|
clusterin
|
|
ISO
|
|
RGD |
PMID:18723004 |
RGD:2301196 |
NCBI chr15:44,336,619...44,375,861
Ensembl chr15:44,359,914...44,375,860
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G
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Cp
|
ceruloplasmin
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16988052 |
|
NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:104,368,456...104,427,087
|
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G
|
Ftl1
|
ferritin light chain 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:16822677 |
|
NCBI chr 1:105,072,858...105,074,705
Ensembl chr X:45,399,355...45,399,915 Ensembl chr 2:45,399,355...45,399,915 Ensembl chr 1:45,399,355...45,399,915
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G
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Hmox1
|
heme oxygenase 1
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:9884342 |
|
NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818
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G
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Mon1a
|
MON1 homolog A, secretory trafficking associated
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|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:17632513 |
|
NCBI chr 8:117,452,868...117,471,780
Ensembl chr 8:117,452,936...117,471,768
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G
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Tfrc
|
transferrin receptor
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:17163184 PMID:17254562 |
|
NCBI chr11:81,668,478...81,690,318
Ensembl chr11:81,668,478...81,690,318
|
|
|
G
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Atp2a2
|
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
|
|
IDA
|
associated with type 2 diabetes mellitus
|
RGD |
PMID:27222135 |
RGD:13782085 |
NCBI chr12:39,733,519...39,782,942
Ensembl chr12:39,733,458...39,782,934
|
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G
|
Best1
|
bestrophin 1
|
|
ISO
|
ClinVar Annotator: match by term: Iron Overload
|
ClinVar |
PMID:14615048 PMID:25741868 PMID:28492532 PMID:28687848 |
|
NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:216,054,395...216,070,974
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|
G
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Bmp6
|
bone morphogenetic protein 6
|
susceptibility
|
ISO
|
ClinVar Annotator: match by term: BMP6-related condition | ClinVar Annotator: match by term: Iron overload, susceptibility to
|
OMIM ClinVar |
PMID:26582087 PMID:28335084 PMID:28492532 PMID:32464486 |
|
NCBI chr17:26,523,704...26,785,558
Ensembl chr17:26,523,704...26,675,261
|
|
G
|
Cp
|
ceruloplasmin
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:20801540 |
|
NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:104,368,456...104,427,087
|
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G
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Entpd1
|
ectonucleoside triphosphate diphosphohydrolase 1
|
|
IEP
|
protein:enzyme activity:platelet
|
RGD |
PMID:17119848 |
RGD:9685486 |
NCBI chr 1:249,374,810...249,502,310
Ensembl chr 1:249,374,836...249,502,317
|
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G
|
Epas1
|
endothelial PAS domain protein 1
|
treatment
|
ISO
|
associated with Beta-Thalassemia;
|
RGD |
PMID:24282296 |
RGD:11041571 |
NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:13,544,389...13,624,729
|
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G
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Fth1
|
ferritin heavy chain 1
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ISO
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DNA:snp:5' utr:c.-165T>A (human) ClinVar Annotator: match by term: Iron Overload CTD Direct Evidence: marker/mechanism
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ClinVar CTD RGD |
PMID:11389486 PMID:14615048 PMID:25741868 PMID:28492532 PMID:28687848 PMID:11389486 More...
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RGD:737708 |
NCBI chr 1:216,052,037...216,054,325
Ensembl chr 1:216,051,998...216,055,214
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G
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Ggt1
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gamma-glutamyltransferase 1
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IEP
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protein:increased activity:liver
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RGD |
PMID:9559866 |
RGD:14747018 |
NCBI chr20:13,074,141...13,103,551
Ensembl chr20:13,074,141...13,088,050
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G
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Gpx1
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glutathione peroxidase 1
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ISO
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associated with Beta-Thalassemia
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RGD |
PMID:16317757 |
RGD:11352779 |
NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:117,905,280...117,906,581
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G
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Gstm1
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glutathione S-transferase mu 1
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susceptibility
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ISO
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associated with Beta-Thalassemia;DNA:deletion: : (human)
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RGD |
PMID:19838709 |
RGD:10755320 |
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569
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G
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Gstt1
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glutathione S-transferase theta 1
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ISO
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associated with Beta-Thalassemia;DNA:deletion: : (human)
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RGD |
PMID:19838709 |
RGD:10755320 |
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019
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G
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Hamp
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hepcidin antimicrobial peptide
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ISO IEP
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associated with Beta-Thalassemia;DNA:SNP:promoter:c.-582A>G (rs10421768) (human) CTD Direct Evidence: marker/mechanism protein:increased expression:serum
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CTD RGD |
PMID:20801540 PMID:22659129 PMID:19734422 PMID:19524651 |
RGD:11041610, RGD:11041720 |
NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297
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G
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Hfe
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homeostatic iron regulator
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no_association
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ISO
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DNA:missense mutation: :p.C282Y (human) DNA:missense mutations: :p.C282Y, p.H63D (human) associated with Beta-Thalassemia;DNA:missense mutation: :p.H63D (human) DNA:missense mutation: :multiple
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RGD |
PMID:14636644 PMID:10895137 PMID:11869934 PMID:14636644 |
RGD:10755536, RGD:10755542, RGD:10755541, RGD:10755536 |
NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,841,252...41,851,208
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G
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Ireb2
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iron responsive element binding protein 2
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IEP
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mRNA:decreased expression:cerebral cortex (rat)
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RGD |
PMID:19943190 |
RGD:6893272 |
NCBI chr 8:64,124,152...64,207,702
Ensembl chr 8:64,154,945...64,205,520
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G
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Mapt
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microtubule-associated protein tau
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treatment
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IDA
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RGD |
PMID:27403880 |
RGD:13800907 |
NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,638,599...89,736,108
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G
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Slc11a2
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solute carrier family 11 member 2
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ISO
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DNA:snp:exon:c.1285G>C (human)
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RGD |
PMID:15459009 |
RGD:1580431 |
NCBI chr 7:133,381,878...133,429,921
Ensembl chr 7:133,381,878...133,418,941
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G
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Slc40a1
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solute carrier family 40 member 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:17052926 |
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NCBI chr 9:55,525,457...55,633,463
Ensembl chr 9:55,525,532...55,543,460
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G
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Tf
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transferrin
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:11110675 |
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NCBI chr 8:112,668,667...112,695,376
Ensembl chr 8:112,647,642...112,695,400
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G
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Stab1
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stabilin 1
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ISO
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ClinVar Annotator: match by term: Isolated hyperferritinemia
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ClinVar OMIM |
PMID:37490907 |
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NCBI chr16:6,336,871...6,367,374
Ensembl chr16:6,336,871...6,364,579
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G
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Fam111a
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FAM111 trypsin like peptidase A
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal dominant Kenny-Caffey syndrome | ClinVar Annotator: match by term: Dwarfism, cortical thickening of tubular bones and transient hypocalcemia
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OMIM CTD ClinVar |
PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:25741868 PMID:28492532 PMID:29073591 PMID:32996714 More...
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NCBI chr 1:219,065,542...219,081,213
Ensembl chr 1:219,065,601...219,081,211
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G
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Tbce
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tubulin folding cofactor E
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:12389028 |
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NCBI chr17:55,983,627...56,031,578
Ensembl chr17:55,985,707...56,032,302
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G
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Mgp
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matrix Gla protein
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ISO
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DNA:deletion,nonsense mutation, splice-site mutation:exon, intron:c.69delG, IVS1-2A>G, c.113T>A (human) ClinVar Annotator: match by term: Keutel syndrome | ClinVar Annotator: match by term: MGP-related condition CTD Direct Evidence: marker/mechanism
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ClinVar CTD OMIM RGD |
PMID:9916809 PMID:15810001 PMID:21705322 PMID:25741868 PMID:28492532 PMID:9916809 More...
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RGD:1600783 |
NCBI chr 4:171,497,472...171,500,888
Ensembl chr 4:171,497,471...171,500,859
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G
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Ftl1
|
ferritin light chain 1
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ISO
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ClinVar Annotator: match by term: L-ferritin deficiency | ClinVar Annotator: match by term: L-ferritin deficiency, autosomal recessive
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OMIM ClinVar |
PMID:15173247 PMID:17182944 PMID:18414213 PMID:23940258 PMID:25741868 PMID:28492532 PMID:30678075 More...
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NCBI chr 1:105,072,858...105,074,705
Ensembl chr X:45,399,355...45,399,915 Ensembl chr 2:45,399,355...45,399,915 Ensembl chr 1:45,399,355...45,399,915
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G
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Gys1
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glycogen synthase 1
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ISO
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ClinVar Annotator: match by term: L-ferritin deficiency
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ClinVar |
PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 1:105,051,916...105,071,763
Ensembl chr 1:105,051,961...105,072,419
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G
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Alox12b
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arachidonate 12-lipoxygenase, 12R type
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ISO
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ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts
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ClinVar |
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NCBI chr10:54,361,898...54,373,776
Ensembl chr10:54,361,898...54,373,776
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G
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Snord118
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small nucleolar RNA, C/D box 118
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ISO
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ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:25741868 PMID:27571260 PMID:28177126 PMID:28492532 PMID:29260032 PMID:29970281 PMID:29984895 PMID:29984898 PMID:29996189 PMID:30794980 PMID:31521395 PMID:32342562 PMID:33029936 PMID:35710456 PMID:36237624 PMID:37761957 More...
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NCBI chr10:54,273,655...54,273,790
Ensembl chr10:54,273,655...54,273,790
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G
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Tmem107
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transmembrane protein 107
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ISO
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ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts
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ClinVar |
PMID:25741868 PMID:26595381 PMID:27571260 PMID:28177126 PMID:28492532 PMID:29260032 PMID:29970281 PMID:29984895 PMID:29984898 PMID:29996189 PMID:30794980 PMID:31521395 PMID:32342562 PMID:33029936 PMID:35710456 PMID:36237624 PMID:37761957 PMID:39825153 More...
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NCBI chr10:54,268,218...54,273,520
Ensembl chr10:54,271,196...54,278,586
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G
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Clcn5
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chloride voltage-gated channel 5
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ISO
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ClinVar Annotator: match by term: Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:7915957 PMID:8559248 PMID:9062355 PMID:9187673 PMID:9328929 PMID:9734595 PMID:11136179 PMID:15086899 PMID:15719255 PMID:15895257 PMID:16199547 PMID:16822791 PMID:18038239 PMID:19019917 PMID:19076289 PMID:19546586 PMID:19546591 PMID:19657328 PMID:22083641 PMID:22876375 PMID:23566014 PMID:24081861 PMID:25741868 PMID:25907713 PMID:26822237 PMID:27117801 PMID:27625851 PMID:27889724 PMID:28492532 PMID:28580211 PMID:29758562 PMID:30773290 PMID:31672324 PMID:31674016 PMID:32683654 PMID:33532864 PMID:35738466 More...
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NCBI chr X:17,857,260...18,011,844
Ensembl chr X:17,857,260...18,011,844
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G
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Enpp1
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ectonucleotide pyrophosphatase/phosphodiesterase 1
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ISO
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ClinVar Annotator: match by term: Coronary sclerosis, medial, of infancy
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ClinVar |
PMID:9536098 PMID:15940697 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044
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G
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Ammecr1
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AMMECR nuclear protein 1
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ISO
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ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
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OMIM ClinVar |
PMID:21681106 PMID:25741868 PMID:27811305 PMID:28089922 PMID:28492532 PMID:29174631 PMID:29193635 More...
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NCBI chr X:111,262,792...111,368,099
Ensembl chr X:111,262,792...111,368,099
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G
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Gng5-ps4
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G protein subunit gamma 5, pseudogene 4
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ISO
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ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
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ClinVar |
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NCBI chr11:58,096,275...58,096,795
Ensembl chr11:58,096,362...58,096,565
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G
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Rtl9
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retrotransposon Gag like 9
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ISO
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ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
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ClinVar |
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NCBI chr X:111,470,972...111,517,356
Ensembl chr X:111,509,060...111,517,348
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G
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Tmem164
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transmembrane protein 164
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ISO
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ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
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ClinVar |
PMID:21681106 PMID:27811305 PMID:28089922 |
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NCBI chr X:111,084,830...111,245,419
Ensembl chr X:111,085,712...111,245,417
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G
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Bmp6
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bone morphogenetic protein 6
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ISO
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ClinVar Annotator: match by term: Neonatal hemochromatosis
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ClinVar |
PMID:25741868 |
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NCBI chr17:26,523,704...26,785,558
Ensembl chr17:26,523,704...26,675,261
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G
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Hsd3b7
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hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
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ISO
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ClinVar Annotator: match by term: Neonatal hemochromatosis
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ClinVar |
PMID:25741868 |
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NCBI chr 1:191,842,688...191,845,919
Ensembl chr 1:191,842,636...191,845,921
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G
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Stx1b
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syntaxin 1B
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ISO
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ClinVar Annotator: match by term: Neonatal hemochromatosis
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ClinVar |
PMID:25741868 |
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NCBI chr 1:191,846,016...191,864,878
Ensembl chr 1:191,833,743...191,871,633
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G
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Agxt
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alanine--glyoxylate aminotransferase
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ISO
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ClinVar Annotator: match by term: Nephrocalcinosis
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ClinVar |
PMID:8101040 PMID:9136629 PMID:9192270 PMID:10541294 PMID:10960483 PMID:12777626 PMID:15327387 PMID:15802217 PMID:15961946 PMID:16912707 PMID:17460142 PMID:17495019 PMID:19155213 PMID:19479957 PMID:20133649 PMID:23229545 PMID:24012869 PMID:24055001 PMID:24718375 PMID:24988064 PMID:25629080 PMID:25741868 PMID:28492532 PMID:28893421 PMID:31078535 PMID:35695965 More...
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NCBI chr 9:101,122,793...101,132,746
Ensembl chr 9:101,122,793...101,132,745
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G
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Ammecr1
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AMMECR nuclear protein 1
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ISO
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ClinVar Annotator: match by term: Nephrocalcinosis
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ClinVar |
PMID:25741868 |
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NCBI chr X:111,262,792...111,368,099
Ensembl chr X:111,262,792...111,368,099
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G
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Atp6v1b1
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ATPase H+ transporting V1 subunit B1
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ISO
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ClinVar Annotator: match by term: Nephrocalcinosis
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ClinVar |
PMID:9916796 PMID:12414817 PMID:16199547 PMID:16611712 PMID:16769747 PMID:18368028 PMID:22509993 PMID:25285676 PMID:25741868 PMID:28233610 PMID:28492532 PMID:28893421 PMID:31549751 PMID:31733597 PMID:31959358 More...
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NCBI chr 4:117,781,444...117,800,103
Ensembl chr 4:117,781,444...117,800,103
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G
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Brd4
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bromodomain containing 4
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ISS
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MouseDO |
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NCBI chr 7:11,866,997...11,946,575
Ensembl chr 7:11,866,997...11,946,923
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G
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Cldn16
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claudin 16
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ISO
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ClinVar Annotator: match by term: Nephrocalcinosis
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ClinVar |
PMID:10390358 PMID:25741868 PMID:28893421 |
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NCBI chr11:87,795,106...87,814,396
Ensembl chr11:87,795,106...87,814,396
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G
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Cldn19
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claudin 19
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ISO
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ClinVar Annotator: match by term: Nephrocalcinosis
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ClinVar |
PMID:25741868 PMID:28492532 PMID:28893421 PMID:33025205 PMID:34805638 |
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NCBI chr 5:138,148,234...138,155,672
Ensembl chr 5:138,148,501...138,155,666
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G
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Grhpr
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glyoxylate and hydroxypyruvate reductase
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ISO
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ClinVar Annotator: match by term: Nephrocalcinosis
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ClinVar |
PMID:9536098 PMID:10484776 PMID:11030416 PMID:12185464 PMID:14635115 PMID:15327387 PMID:17576681 PMID:18560364 PMID:24033266 PMID:24116921 PMID:25644115 PMID:25741868 PMID:28492532 PMID:28893421 More...
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NCBI chr 5:64,029,856...64,039,287
Ensembl chr 5:64,022,368...64,039,276
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G
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Phex
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phosphate regulating endopeptidase X-linked
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:9430241 |
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NCBI chr X:41,422,561...41,671,226
Ensembl chr X:41,426,101...41,671,226
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G
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Polg2
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DNA polymerase gamma 2, accessory subunit
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ISS
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MouseDO |
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NCBI chr10:92,212,303...92,222,849
Ensembl chr10:92,212,304...92,222,726
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G
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Pomc
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proopiomelanocortin
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:3017235 |
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NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173
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G
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Pth
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parathyroid hormone
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IDA
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RGD |
PMID:23344571 |
RGD:7242573 |
NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034
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G
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Slc12a1
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solute carrier family 12 member 1
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ISO
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ClinVar Annotator: match by term: Nephrocalcinosis
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ClinVar |
PMID:8640224 PMID:9585600 PMID:17998760 PMID:18391953 PMID:19096086 PMID:25741868 PMID:28492532 PMID:28893421 More...
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NCBI chr 3:132,859,581...132,936,354
Ensembl chr 3:132,859,590...132,936,340
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G
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Slc26a1
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solute carrier family 26 member 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:20160351 |
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NCBI chr14:1,180,465...1,190,257
Ensembl chr14:1,184,649...1,190,255
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G
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Slc34a1
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solute carrier family 34 member 1
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ISO
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associated with Hypercalciuria ClinVar Annotator: match by term: Nephrocalcinosis
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ClinVar RGD |
PMID:16199547 PMID:16688119 PMID:25741868 PMID:26047794 PMID:28492532 PMID:28893421 PMID:29959532 PMID:12674325 More...
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RGD:7242938 |
NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983
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G
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Slc3a1
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solute carrier family 3 member 1
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ISO
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ClinVar Annotator: match by term: Nephrocalcinosis
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ClinVar |
PMID:18947684 PMID:24610330 PMID:25109415 PMID:25741868 PMID:25964309 PMID:28492532 PMID:28646536 PMID:28893421 PMID:33262960 More...
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NCBI chr 6:15,361,037...15,396,695
Ensembl chr 6:15,361,046...15,394,775
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G
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Aars2
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alanyl-tRNA synthetase 2, mitochondrial
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ISO
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ClinVar Annotator: match by term: Iron accumulation in brain
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ClinVar |
PMID:32581362 |
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NCBI chr 9:22,981,880...22,993,536
Ensembl chr 9:22,794,978...22,993,536
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G
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Atp13a2
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ATPase cation transporting 13A2
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ISO
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ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
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ClinVar |
PMID:16199547 PMID:16964263 PMID:17485642 PMID:20683840 PMID:21060012 PMID:21665991 PMID:21696388 PMID:21724849 PMID:22296644 PMID:22768177 PMID:22847264 PMID:23499937 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29163333 PMID:29913018 PMID:29966207 PMID:30487145 PMID:31980526 PMID:33049588 PMID:34475127 More...
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NCBI chr 5:158,575,727...158,595,157
Ensembl chr 5:158,575,749...158,595,156
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G
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C1h19orf12
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similar to human chromosome 19 open reading frame 12
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ISO
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ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
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ClinVar |
PMID:21981780 PMID:22584950 PMID:23166001 PMID:23269600 PMID:23278385 PMID:23436634 PMID:23494994 PMID:23857908 PMID:24033266 PMID:24209434 PMID:24361204 PMID:25558065 PMID:25592411 PMID:25741868 PMID:27801611 PMID:28347615 PMID:28492532 PMID:28641177 PMID:28832565 PMID:30088953 PMID:30392167 PMID:31087512 PMID:31518459 PMID:31804703 PMID:31970231 PMID:32552793 PMID:32581362 PMID:33607528 PMID:34284285 More...
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NCBI chr 1:100,010,280...100,023,907
Ensembl chr 1:100,010,323...100,023,903
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G
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Coasy
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Coenzyme A synthase
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ISO
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ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
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ClinVar |
PMID:21264299 PMID:24360804 PMID:25741868 PMID:27021474 PMID:28357284 PMID:28489334 PMID:28492532 PMID:28688840 PMID:33644862 More...
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NCBI chr10:86,514,850...86,519,130
Ensembl chr10:86,514,874...86,519,130
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G
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Cp
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ceruloplasmin
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ISO
|
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
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ClinVar |
PMID:12351628 PMID:15885371 PMID:16629161 PMID:18408989 PMID:18414213 PMID:19095659 PMID:20655381 PMID:25089372 PMID:25741868 PMID:28012953 PMID:28431603 PMID:28492532 PMID:30901137 PMID:32235485 PMID:34014900 PMID:34347207 PMID:35585918 More...
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NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:104,368,456...104,427,087
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G
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Crat
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carnitine O-acetyltransferase
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ISO
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ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
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ClinVar |
PMID:25741868 PMID:28492532 PMID:29395073 PMID:34085946 |
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NCBI chr 3:34,073,504...34,087,099
Ensembl chr 3:34,073,506...34,087,099
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G
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Dcaf17
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DDB1 and CUL4 associated factor 17
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ISO
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ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
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ClinVar |
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NCBI chr 3:76,271,503...76,303,321
Ensembl chr 3:76,271,519...76,303,320
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G
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Fa2h
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fatty acid 2-hydroxylase
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ISO
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ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
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ClinVar |
PMID:20853438 PMID:25741868 PMID:27217339 PMID:27316240 PMID:28492532 PMID:29980238 PMID:31135052 PMID:31227335 PMID:31429931 PMID:31628766 PMID:32907636 PMID:33059505 More...
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NCBI chr19:56,222,240...56,273,480
Ensembl chr19:56,222,242...56,273,623
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G
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Hps3
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HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
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ISO
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ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
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ClinVar |
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NCBI chr 2:104,413,618...104,455,091
Ensembl chr 2:104,413,417...104,455,091
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G
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Pank2
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pantothenate kinase 2
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:20629144 |
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NCBI chr 3:138,936,448...138,974,196
Ensembl chr 3:138,936,452...138,974,194
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G
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Pla2g6
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phospholipase A2 group VI
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|
ISO
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ClinVar Annotator: match by term: Iron accumulation in brain | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
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ClinVar |
PMID:2668131 PMID:2939507 PMID:16199547 PMID:16783378 PMID:17033970 PMID:18359254 PMID:18414213 PMID:18443314 PMID:18570303 PMID:18799783 PMID:18981035 PMID:19087156 PMID:19138334 PMID:19893029 PMID:20301718 PMID:20584031 PMID:20619503 PMID:20669327 PMID:20886109 PMID:20947703 PMID:22213678 PMID:22934738 PMID:23685560 PMID:24033266 PMID:24108619 PMID:24130795 PMID:24252552 PMID:24628589 PMID:24745848 PMID:24800972 PMID:24870368 PMID:25164370 PMID:25324289 PMID:25326635 PMID:25326637 PMID:25558065 PMID:25634434 PMID:25741868 PMID:26196026 PMID:26467025 PMID:26633542 PMID:26668131 PMID:26829737 PMID:27081553 PMID:27127721 PMID:27146152 PMID:27196560 PMID:27268037 PMID:27378808 PMID:27395053 PMID:27497490 PMID:27516098 PMID:27848944 PMID:27882168 PMID:27942883 PMID:28150298 PMID:28211602 PMID:28492532 PMID:28542792 PMID:28714225 PMID:28716262 PMID:29108286 PMID:29395073 PMID:29454663 PMID:29472584 PMID:29859652 PMID:29915382 PMID:30120687 PMID:30302010 PMID:30340910 PMID:30619057 PMID:31104286 PMID:31493945 PMID:31496990 PMID:31506141 PMID:31516627 PMID:31689548 PMID:32183746 PMID:32357911 PMID:32707456 PMID:32771225 PMID:32860008 PMID:32870915 PMID:33050356 PMID:33550528 PMID:33619735 PMID:34168672 PMID:34234304 PMID:34272103 PMID:34307755 PMID:34520727 PMID:34622992 PMID:35113461 PMID:35122944 PMID:35247231 PMID:35861376 PMID:36790591 PMID:37403138 PMID:39825153 More...
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NCBI chr 7:112,731,803...112,771,978
Ensembl chr 7:112,731,803...112,771,609
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G
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Reps1
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RALBP1 associated Eps domain containing 1
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ISO
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ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
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ClinVar |
PMID:28492532 PMID:29395073 |
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NCBI chr 1:14,517,589...14,595,404
Ensembl chr 1:14,517,589...14,595,404
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G
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Wdr45
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WD repeat domain 45
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
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CTD ClinVar |
PMID:16199547 PMID:23176820 PMID:23435086 PMID:24368176 PMID:24621584 PMID:25741868 PMID:25744623 PMID:26790960 PMID:27030146 PMID:27652284 PMID:28492532 PMID:28554332 PMID:28711740 More...
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NCBI chr X:17,448,195...17,454,117
Ensembl chr X:17,448,207...17,454,117
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G
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Ankrd54
|
ankyrin repeat domain 54
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ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
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ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:112,495,396...112,508,186
Ensembl chr 7:112,495,462...112,508,128
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G
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Baiap2l2
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BAR/IMD domain containing adaptor protein 2 like 2
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ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:112,704,798...112,731,691
Ensembl chr 7:112,704,682...112,731,127
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G
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C1qtnf6
|
C1q and TNF related 6
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ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:111,958,348...111,964,948
Ensembl chr 7:111,958,350...111,966,871
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G
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C7h22orf23
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similar to human chromosome 22 open reading frame 23
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ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
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ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:112,585,341...112,592,938
Ensembl chr 7:112,584,818...112,593,109
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G
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Card10
|
caspase recruitment domain family, member 10
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ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
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ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:112,210,944...112,252,044
Ensembl chr 7:112,210,776...112,239,806
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G
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Cby1
|
chibby 1, beta catenin antagonist
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ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:113,097,220...113,103,831
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G
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Cdc42ep1
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CDC42 effector protein 1
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ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:112,275,759...112,283,665
Ensembl chr 7:112,275,792...112,283,664
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G
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Cimip4
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ciliary microtubule inner protein 4
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ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:111,808,669...111,825,522
Ensembl chr 7:111,808,670...111,825,412
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G
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Csf2rb
|
colony stimulating factor 2 receptor subunit beta
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|
ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:111,756,950...111,782,089
Ensembl chr 7:111,757,405...111,784,654
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G
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Csnk1e
|
casein kinase 1, epsilon
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|
ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:112,863,726...112,887,338
Ensembl chr 7:112,863,731...112,884,101
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G
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Cyth4
|
cytohesin 4
|
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ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:112,032,711...112,057,204
Ensembl chr 7:112,032,775...112,057,204
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G
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Ddx17
|
DEAD-box helicase 17
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|
ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
|
NCBI chr 7:112,971,522...112,989,747
Ensembl chr 7:112,971,523...112,989,747
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G
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Dmc1
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DNA meiotic recombinase 1
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|
ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
|
NCBI chr 7:113,005,278...113,047,854
Ensembl chr 7:113,005,281...113,047,854
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G
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Dock6
|
dedicator of cytokinesis 6
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ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy 1
|
ClinVar |
PMID:11727201 PMID:12673792 PMID:12955720 PMID:16385454 PMID:16783378 PMID:20301500 PMID:20301601 PMID:20301718 PMID:20301788 PMID:21735565 PMID:21820096 PMID:25741868 PMID:28492532 More...
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NCBI chr 8:28,618,523...28,670,741
Ensembl chr 8:28,618,523...28,670,648
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G
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Eif3l
|
eukaryotic translation initiation factor 3, subunit L
|
|
ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
|
NCBI chr 7:112,522,222...112,544,063
Ensembl chr 7:112,507,831...112,544,062
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G
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Elfn2
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extracellular leucine-rich repeat and fibronectin type III domain containing 2
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|
ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:112,101,998...112,153,280
Ensembl chr 7:112,074,331...112,153,451
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G
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Fam227a
|
family with sequence similarity 227, member A
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|
ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:113,054,751...113,096,898
Ensembl chr 7:113,054,751...113,096,868
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G
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Galr3
|
galanin receptor 3
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|
ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:112,483,183...112,496,359
Ensembl chr 7:112,485,672...112,488,136
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G
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Gcat
|
glycine C-acetyltransferase
|
|
ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:112,475,572...112,481,920
Ensembl chr 7:112,475,496...112,482,664
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G
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Gga1
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golgi associated, gamma adaptin ear containing, ARF binding protein 1
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|
ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
|
NCBI chr 7:112,316,530...112,332,249
Ensembl chr 7:112,315,449...112,332,249
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G
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Gtpbp1
|
GTP binding protein 1
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|
ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
|
NCBI chr 7:113,128,645...113,153,094
Ensembl chr 7:113,128,670...113,154,621
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G
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H1f0
|
H1.0 linker histone
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|
ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
|
NCBI chr 7:112,473,280...112,475,140
Ensembl chr 7:112,473,222...112,475,006
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G
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Ift27
|
intraflagellar transport 27
|
|
ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:111,619,145...111,635,129
Ensembl chr 7:111,619,077...111,634,936
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G
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Il2rb
|
interleukin 2 receptor subunit beta
|
|
ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
|
NCBI chr 7:111,913,828...111,928,537
Ensembl chr 7:111,913,828...111,928,537
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G
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Josd1
|
Josephin domain containing 1
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|
ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:113,110,709...113,124,632
Ensembl chr 7:113,110,717...113,124,632
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G
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Kcnj4
|
potassium inwardly-rectifying channel, subfamily J, member 4
|
|
ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
|
NCBI chr 7:112,927,494...112,954,547
Ensembl chr 7:112,922,532...112,954,826
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G
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Kctd17
|
potassium channel tetramerization domain containing 17
|
|
ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
|
NCBI chr 7:111,859,556...111,891,869
Ensembl chr 7:111,859,256...111,870,692
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G
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Kdelr3
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KDEL endoplasmic reticulum protein retention receptor 3
|
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ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:112,959,632...112,969,858
Ensembl chr 7:112,959,718...112,969,858
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G
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Lgals1
|
galectin 1
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ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
|
NCBI chr 7:112,365,695...112,368,801
Ensembl chr 7:112,361,850...112,368,800
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G
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Lgals2
|
galectin 2
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ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
|
NCBI chr 7:112,283,630...112,290,228
Ensembl chr 7:112,282,822...112,285,392
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G
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Maff
|
MAF bZIP transcription factor F
|
|
ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
|
NCBI chr 7:112,792,787...112,804,139
Ensembl chr 7:112,791,416...112,804,147
|
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G
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Mfng
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MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
|
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ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:112,191,288...112,209,129
Ensembl chr 7:112,161,071...112,209,129
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G
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Micall1
|
MICAL-like 1
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ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:112,557,192...112,587,618
Ensembl chr 7:112,557,192...112,587,618
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G
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Mpst
|
mercaptopyruvate sulfurtransferase
|
|
ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
|
NCBI chr 7:111,836,079...111,843,651
Ensembl chr 7:111,835,587...111,843,650
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G
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Ncf4
|
neutrophil cytosolic factor 4
|
|
ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
|
NCBI chr 7:111,705,926...111,723,893
Ensembl chr 7:111,706,520...111,723,898
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G
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Nol12
|
nucleolar protein 12
|
|
ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
|
NCBI chr 7:112,373,749...112,379,362
Ensembl chr 7:112,373,845...112,380,357
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G
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Pdxp
|
pyridoxal phosphatase
|
|
ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
|
NCBI chr 7:112,352,971...112,358,419
Ensembl chr 7:112,352,726...112,358,419
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G
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Pick1
|
protein interacting with PRKCA 1
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|
ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
|
ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
|
NCBI chr 7:112,676,890...112,697,275
Ensembl chr 7:112,677,322...112,697,257
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G
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Pla2g6
|
phospholipase A2 group VI
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|
ISO ISS
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy | ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy 1 | ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration | ClinVar Annotator: match by term: Seitelberger disease OMIM:256600 DNA:deletions, missense mutations, nonsense mutation: exon:multiple
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OMIM ClinVar MouseDO RGD |
PMID:2668131 PMID:2939507 PMID:9536098 PMID:16199547 PMID:16783378 PMID:17033970 PMID:17576681 PMID:18359254 PMID:18414213 PMID:18443314 PMID:18570303 PMID:18799783 PMID:18981035 PMID:19087156 PMID:19138334 PMID:19893029 PMID:20186954 PMID:20226704 PMID:20301718 PMID:20584031 PMID:20619503 PMID:20669327 PMID:20886109 PMID:20938027 PMID:20947703 PMID:21368765 PMID:21520282 PMID:21700586 PMID:21812034 PMID:22213678 PMID:22442204 PMID:22934738 PMID:23182313 PMID:23685560 PMID:23749988 PMID:24033266 PMID:24088041 PMID:24108619 PMID:24130795 PMID:24252552 PMID:24628589 PMID:24745848 PMID:24800972 PMID:24870368 PMID:25164370 PMID:25174650 PMID:25294124 PMID:25324289 PMID:25326635 PMID:25326637 PMID:25348461 PMID:25601130 PMID:25634434 PMID:25640679 PMID:25660576 PMID:25741868 PMID:26001724 PMID:26196026 PMID:26467025 PMID:26539891 PMID:26633542 PMID:26633545 PMID:26668131 PMID:26755131 PMID:26829737 PMID:27081553 PMID:27127721 PMID:27146152 PMID:27196560 PMID:27268037 PMID:27294386 PMID:27378808 PMID:27395053 PMID:27497490 PMID:27516098 PMID:27709683 PMID:27848944 PMID:27882168 PMID:27884548 PMID:27942883 PMID:28150298 PMID:28211602 PMID:28252636 PMID:28295203 PMID:28492532 PMID:28542792 PMID:28549837 PMID:28600779 PMID:28714225 PMID:28716262 PMID:28821231 PMID:29108286 PMID:29124790 PMID:29159939 PMID:29395073 PMID:29454663 PMID:29472584 PMID:29859652 PMID:29913018 PMID:29915382 PMID:30042723 PMID:30065071 PMID:30112060 PMID:30120687 PMID:30169597 PMID:30232368 PMID:30302010 PMID:30340910 PMID:30537300 PMID:30619057 PMID:30619446 PMID:30772976 PMID:31069529 PMID:31104286 PMID:31493945 PMID:31496990 PMID:31506141 PMID:31516627 PMID:31548400 PMID:31689548 PMID:32005694 PMID:32183746 PMID:32357911 PMID:32404165 PMID:32613234 PMID:32707456 PMID:32771225 PMID:32860008 PMID:32870915 PMID:33050356 PMID:33098801 PMID:33279242 PMID:33361639 PMID:33547378 PMID:33550528 PMID:33619735 PMID:33769990 PMID:34168672 PMID:34234304 PMID:34272103 PMID:34307755 PMID:34445196 PMID:34520727 PMID:34602496 PMID:34622992 PMID:35032046 PMID:35041927 PMID:35113461 PMID:35122944 PMID:35247231 PMID:35624904 PMID:35741772 PMID:35861376 PMID:35872528 PMID:35873758 PMID:35911906 PMID:36002593 PMID:36499697 PMID:36790591 PMID:36879366 PMID:37750340 PMID:38703036 PMID:39825153 PMID:22934738 More...
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RGD:12910703 |
NCBI chr 7:112,731,803...112,771,978
Ensembl chr 7:112,731,803...112,771,609
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G
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Polr2f
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RNA polymerase II, I and III subunit F
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ISO
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ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
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ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:112,592,977...112,604,681
Ensembl chr 7:112,593,027...112,604,666
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G
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Pvalb
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parvalbumin
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ISO
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ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
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ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:111,653,820...111,668,469
Ensembl chr 7:111,653,111...111,668,446
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G
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Rac2
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Rac family small GTPase 2
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ISO
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ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
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ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:111,981,825...112,009,201
Ensembl chr 7:111,996,742...112,009,267
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G
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Sh3bp1
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SH3-domain binding protein 1
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ISO
|
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
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ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:112,338,087...112,350,659
Ensembl chr 7:112,338,107...112,350,659
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G
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Slc16a8
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solute carrier family 16 member 8
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ISO
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ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
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ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:112,698,701...112,702,496
Ensembl chr 7:112,698,701...112,702,496
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G
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Sox10
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SRY-box transcription factor 10
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ISO
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ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
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ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:112,605,721...112,615,097
Ensembl chr 7:112,605,721...112,615,990
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G
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Sstr3
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somatostatin receptor 3
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ISO
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ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
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ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:111,973,049...111,980,250
Ensembl chr 7:111,972,811...111,997,368
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G
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Sun2
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Sad1 and UNC84 domain containing 2
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ISO
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ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
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ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:113,155,766...113,172,950
Ensembl chr 7:113,155,766...113,172,940
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G
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Tmem184b
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transmembrane protein 184B
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ISO
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ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
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ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:112,805,512...112,848,398
Ensembl chr 7:112,805,512...112,848,351
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G
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Tmprss6
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transmembrane serine protease 6
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ISO
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ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
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ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:111,871,504...111,902,127
Ensembl chr 7:111,871,031...111,902,116
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G
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Tomm22
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translocase of outer mitochondrial membrane 22
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ISO
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ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
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ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:113,103,863...113,109,056
Ensembl chr 7:113,103,860...113,109,053
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G
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Triobp
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TRIO and F-actin binding protein
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ISO
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ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
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ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:112,386,371...112,452,130
Ensembl chr 7:112,386,420...112,442,924
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G
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Tst
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thiosulfate sulfurtransferase
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ISO
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ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
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ClinVar |
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532 |
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NCBI chr 7:111,828,557...111,836,980
Ensembl chr 7:111,828,558...111,837,116
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G
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Pla2g6
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phospholipase A2 group VI
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ISO
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ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2B | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2b CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:2668131 PMID:16199547 PMID:16783378 PMID:17033970 PMID:18359254 PMID:18414213 PMID:18443314 PMID:18570303 PMID:18799783 PMID:18981035 PMID:19138334 PMID:20301718 PMID:20584031 PMID:20619503 PMID:20669327 PMID:20886109 PMID:22213678 PMID:22934738 PMID:24130795 PMID:24252552 PMID:24745848 PMID:24800972 PMID:24870368 PMID:25164370 PMID:25324289 PMID:25326635 PMID:25741868 PMID:26196026 PMID:26467025 PMID:26539891 PMID:26668131 PMID:26755131 PMID:27146152 PMID:27196560 PMID:27268037 PMID:27378808 PMID:27516098 PMID:27942883 PMID:28211602 PMID:28492532 PMID:28542792 PMID:28600779 PMID:28716262 PMID:29395073 PMID:29454663 PMID:29472584 PMID:29859652 PMID:29913018 PMID:29915382 PMID:30232368 PMID:30302010 PMID:30340910 PMID:30619057 PMID:30772976 PMID:31493945 PMID:31516627 PMID:31548400 PMID:32183746 PMID:32581362 PMID:32707456 PMID:32771225 PMID:32860008 PMID:33279242 PMID:33619735 PMID:34168672 PMID:34272103 PMID:34520727 PMID:34622992 PMID:35113461 PMID:35122944 PMID:36499697 PMID:36790591 PMID:39825153 More...
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NCBI chr 7:112,731,803...112,771,978
Ensembl chr 7:112,731,803...112,771,609
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G
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Ftl1
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ferritin light chain 1
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ISO
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DNA:insertion:exon:460_461insA(human) ClinVar Annotator: match by term: BASAL GANGLIA DISEASE, ADULT-ONSET | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 3 | ClinVar Annotator: match by term: Neuroferritinopathy CTD Direct Evidence: marker/mechanism DNA:mutations:exon: DNA:duplication:cds:458dupA(human)
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ClinVar CTD OMIM RGD |
PMID:9226182 PMID:9414300 PMID:11438811 PMID:12200611 PMID:12746423 PMID:14662596 PMID:15099026 PMID:16116125 PMID:16518306 PMID:17182944 PMID:18413574 PMID:18414213 PMID:18854324 PMID:21541272 PMID:21907119 PMID:23421845 PMID:23592921 PMID:25741868 PMID:25832658 PMID:26849797 PMID:28492532 PMID:28746593 PMID:36233161 PMID:17142829 PMID:19117339 PMID:18854324 More...
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RGD:5509859, RGD:5509861, RGD:5509860 |
NCBI chr 1:105,072,858...105,074,705
Ensembl chr X:45,399,355...45,399,915 Ensembl chr 2:45,399,355...45,399,915 Ensembl chr 1:45,399,355...45,399,915
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G
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Gys1
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glycogen synthase 1
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ISO
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ClinVar Annotator: match by term: Neuroferritinopathy
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ClinVar |
PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 1:105,051,916...105,071,763
Ensembl chr 1:105,051,961...105,072,419
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G
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Nox1
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NADPH oxidase 1
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ISO
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ClinVar Annotator: match by term: Neuroferritinopathy
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ClinVar |
PMID:29091079 PMID:31345363 PMID:38876456 |
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NCBI chr X:101,572,338...101,625,571
Ensembl chr X:101,572,340...101,595,520
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G
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C1h19orf12
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similar to human chromosome 19 open reading frame 12
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ISO
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ClinVar Annotator: match by term: C19orf12-related condition | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4
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OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 PMID:22508347 PMID:22584950 PMID:23166001 PMID:23269600 PMID:23278385 PMID:23436634 PMID:23494994 PMID:23857908 PMID:24033266 PMID:24209434 PMID:25592411 PMID:25741868 PMID:26187298 PMID:26539891 PMID:27112773 PMID:27801611 PMID:28347615 PMID:28492532 PMID:28641177 PMID:29295770 PMID:29389947 PMID:29915382 PMID:30088953 PMID:30369941 PMID:30392167 PMID:31087512 PMID:31105013 PMID:31518459 PMID:31804703 PMID:31970231 PMID:32581362 PMID:33134513 PMID:33607528 PMID:34272103 PMID:34284285 PMID:39825153 More...
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NCBI chr 1:100,010,280...100,023,907
Ensembl chr 1:100,010,323...100,023,903
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G
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Akap4
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A-kinase anchoring protein 4
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ISO
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ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
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ClinVar |
PMID:28492532 |
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NCBI chr X:18,107,256...18,117,549
Ensembl chr X:18,107,275...18,117,549
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G
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Araf
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A-Raf proto-oncogene, serine/threonine kinase
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ISO
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ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
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ClinVar |
PMID:28492532 |
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NCBI chr X:3,780,932...3,845,919
Ensembl chr X:3,780,932...3,792,611
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G
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Bmp15
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bone morphogenetic protein 15
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ISO
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ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
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ClinVar |
PMID:28492532 |
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NCBI chr X:18,840,943...18,846,006
Ensembl chr X:18,840,829...18,847,438
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G
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Cacna1f
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calcium voltage-gated channel subunit alpha1 F
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ISO
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ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
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ClinVar |
PMID:28492532 |
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NCBI chr X:17,539,992...17,568,308
Ensembl chr X:17,539,920...17,568,308
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G
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Ccdc120
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coiled-coil domain containing 120
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ISO
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ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
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ClinVar |
PMID:28492532 |
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NCBI chr X:17,437,219...17,443,716
Ensembl chr X:17,425,624...17,444,717
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G
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Ccdc22
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coiled-coil domain containing 22
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ISO
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ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
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ClinVar |
PMID:28492532 |
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NCBI chr X:17,570,184...17,582,130
Ensembl chr X:17,535,659...17,582,130
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G
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Ccnb3
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cyclin B3
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ISO
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ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
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ClinVar |
PMID:28492532 |
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NCBI chr X:18,149,915...18,214,801
Ensembl chr X:18,149,915...18,214,801
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G
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Cdk16
|
cyclin-dependent kinase 16
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ISO
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ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
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ClinVar |
PMID:28492532 |
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NCBI chr X:4,046,330...4,057,825
Ensembl chr X:4,026,866...4,057,380
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G
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Cfp
|
complement factor properdin
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ISO
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ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
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ClinVar |
PMID:28492532 |
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NCBI chr X:3,715,551...3,721,113
Ensembl chr X:3,710,425...3,721,112
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G
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Clcn5
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chloride voltage-gated channel 5
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ISO
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ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
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ClinVar |
PMID:28492532 |
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NCBI chr X:17,857,260...18,011,844
Ensembl chr X:17,857,260...18,011,844
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G
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Dgkk
|
diacylglycerol kinase kappa
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ISO
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ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
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ClinVar |
PMID:28492532 |
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NCBI chr X:18,253,849...18,385,805
Ensembl chr X:18,256,463...18,385,640
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G
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Ebp
|
EBP, cholestenol delta-isomerase
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ISO
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ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
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ClinVar |
PMID:28492532 |
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NCBI chr X:16,971,372...16,977,782
Ensembl chr X:16,971,405...16,977,781
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G
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Elk1
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ETS transcription factor ELK1
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ISO
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ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
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ClinVar |
PMID:28492532 |
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NCBI chr X:3,692,367...3,709,252
Ensembl chr X:3,693,293...3,709,249
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G
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Eras
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ES cell expressed Ras
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ISO
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ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
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ClinVar |
PMID:28492532 |
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NCBI chr X:17,245,915...17,250,301
Ensembl chr X:17,245,789...17,250,293
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G
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Foxp3
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forkhead box P3
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ISO
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ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
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ClinVar |
PMID:28492532 |
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NCBI chr X:17,580,380...17,601,181
Ensembl chr X:17,580,380...17,595,894
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G
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Ftsj1
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FtsJ RNA 2'-O-methyltransferase 1
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ISO
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ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
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ClinVar |
PMID:28492532 |
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NCBI chr X:16,915,087...16,929,426
Ensembl chr X:16,916,033...16,923,999
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G
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Gata1
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GATA binding protein 1
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|
ISO
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ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
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ClinVar |
PMID:28492532 |
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NCBI chr X:17,193,291...17,209,462
Ensembl chr X:17,201,633...17,209,459
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G
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Glod5
|
glyoxalase domain containing 5
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ISO
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ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
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ClinVar |
PMID:28492532 |
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NCBI chr X:17,145,936...17,160,733
Ensembl chr X:17,145,938...17,160,619
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G
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Gpkow
|
G patch domain and KOW motifs
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ISO
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ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
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ClinVar |
PMID:28492532 |
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NCBI chr X:17,463,521...17,478,298
Ensembl chr X:17,463,525...17,478,298
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G
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Gripap1
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GRIP1 associated protein 1
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ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
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ClinVar |
PMID:28492532 |
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NCBI chr X:17,350,817...17,380,626
Ensembl chr X:17,350,819...17,380,588
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G
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Hdac6
|
histone deacetylase 6
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|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
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ClinVar |
PMID:28492532 |
|
NCBI chr X:17,222,538...17,244,373
Ensembl chr X:17,222,856...17,244,370
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G
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Kcnd1
|
potassium voltage-gated channel subfamily D member 1
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|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
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ClinVar |
PMID:28492532 |
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NCBI chr X:17,333,612...17,349,255
Ensembl chr X:17,333,612...17,347,799
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G
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Magix
|
MAGI family member, X-linked
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ISO
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ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:17,496,092...17,504,370
Ensembl chr X:17,496,225...17,504,369
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G
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Mir500
|
microRNA 500
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|
ISO
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ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
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ClinVar |
PMID:28492532 |
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NCBI chr X:17,930,647...17,930,726
Ensembl chr X:17,930,637...17,930,728
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G
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Mir532
|
microRNA 532
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:17,919,185...17,919,263
Ensembl chr X:17,919,185...17,919,263
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G
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Ndufb11
|
NADH:ubiquinone oxidoreductase subunit B11
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:4,126,317...4,128,575
Ensembl chr X:4,126,245...4,128,566
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G
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Nudt11
|
nudix hydrolase 11
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:18,998,587...19,005,208
Ensembl chr X:18,998,461...19,005,208
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G
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Otud5
|
OTU deubiquitinase 5
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|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:17,296,750...17,331,257
Ensembl chr X:17,298,029...17,331,054
|
|
G
|
Pcsk1n
|
proprotein convertase subtilisin/kexin type 1 inhibitor
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:17,251,963...17,255,405
Ensembl chr X:17,251,965...17,257,360
|
|
G
|
Pim2
|
Pim-2 proto-oncogene, serine/threonine kinase
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:17,289,509...17,294,778
Ensembl chr X:17,289,509...17,294,778
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|
G
|
Plp2
|
proteolipid protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:17,506,153...17,509,552
Ensembl chr X:17,506,059...17,509,550
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|
G
|
Porcn
|
porcupine O-acyltransferase
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:16,957,811...16,970,440
Ensembl chr X:16,957,810...16,970,439
|
|
G
|
Ppp1r3f
|
protein phosphatase 1, regulatory subunit 3F
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:17,581,467...17,617,087
Ensembl chr X:17,601,239...17,617,102
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|
G
|
Pqbp1
|
polyglutamine binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:17,275,445...17,280,018
Ensembl chr X:17,275,759...17,280,016
|
|
G
|
Praf2
|
PRA1 domain family, member 2
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:17,445,313...17,447,950
Ensembl chr X:17,445,313...17,447,950
|
|
G
|
Prickle3
|
prickle planar cell polarity protein 3
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:17,509,551...17,520,157
Ensembl chr X:17,509,554...17,520,122
|
|
G
|
Rbm10
|
RNA binding motif protein 10
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:4,093,914...4,126,060
Ensembl chr X:4,093,914...4,126,060
|
|
G
|
Rbm3
|
RNA binding motif protein 3
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:17,020,863...17,024,341
Ensembl chr X:17,020,864...17,024,841
|
|
G
|
Shroom4
|
shroom family member 4
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:18,537,371...18,748,665
Ensembl chr X:18,540,913...18,748,700
|
|
G
|
Slc35a2
|
solute carrier family 35 member A2
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:17,280,072...17,288,928
Ensembl chr X:17,280,074...17,288,613
|
|
G
|
Slc38a5
|
solute carrier family 38, member 5
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:16,885,701...16,894,470
Ensembl chr X:16,885,701...16,894,470
|
|
G
|
Spaca5
|
sperm acrosome associated 5
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:3,472,369...3,475,552
Ensembl chr X:3,472,369...3,475,822
|
|
G
|
Ssx1
|
SSX family member 1
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:16,603,888...16,612,203
Ensembl chr X:16,604,449...16,612,210
|
|
G
|
Suv39h1
|
SUV39H1 histone lysine methyltransferase
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:17,093,059...17,105,942
Ensembl chr X:17,092,986...17,105,942
|
|
G
|
Suv39h1-ps1
|
SUV39H1 histone lysine methyltransferase, pseudogene 1
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:146,828,818...146,831,485
|
|
G
|
Syn1
|
synapsin I
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:3,725,745...3,780,940
Ensembl chr X:3,725,714...3,780,938
|
|
G
|
Syp
|
synaptophysin
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:17,521,348...17,536,449
Ensembl chr X:17,521,348...17,536,984
|
|
G
|
Tbc1d25
|
TBC1 domain family, member 25
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:16,986,629...17,010,228
Ensembl chr X:16,986,269...17,010,230
|
|
G
|
Tfe3
|
transcription factor binding to IGHM enhancer 3
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:17,401,466...17,414,829
Ensembl chr X:17,401,466...17,414,685
|
|
G
|
Timm17b
|
translocase of inner mitochondrial membrane 17b
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:17,268,257...17,275,424
Ensembl chr X:17,268,257...17,275,563
|
|
G
|
Timp1
|
TIMP metallopeptidase inhibitor 1
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:3,766,509...3,772,578
Ensembl chr X:3,766,510...3,771,135
|
|
G
|
Uba1
|
ubiquitin-like modifier activating enzyme 1
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:4,062,216...4,084,192
Ensembl chr X:4,062,182...4,084,246
|
|
G
|
Usp11
|
ubiquitin specific peptidase 11
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:4,026,865...4,043,036
|
|
G
|
Usp27x
|
ubiquitin specific peptidase 27, X-linked
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:17,795,506...17,798,741
Ensembl chr X:17,794,884...17,798,879
|
|
G
|
Uxt
|
ubiquitously-expressed, prefoldin-like chaperone
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:3,679,630...3,691,944
Ensembl chr X:3,679,687...3,695,442
|
|
G
|
Was
|
WASP actin nucleation promoting factor
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:17,077,057...17,085,802
Ensembl chr X:17,073,314...17,085,802
|
|
G
|
Wdr13
|
WD repeat domain 13
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:17,034,779...17,045,682
Ensembl chr X:17,034,504...17,045,679
|
|
G
|
Wdr45
|
WD repeat domain 45
|
|
ISO ISS
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 | ClinVar Annotator: match by term: STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD OMIM:300894
|
OMIM ClinVar MouseDO |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22892189 PMID:23176820 PMID:23435086 PMID:23687123 PMID:24368176 PMID:24621584 PMID:24896178 PMID:25263061 PMID:25326635 PMID:25356899 PMID:25533962 PMID:25741868 PMID:25741887 PMID:25744623 PMID:26467025 PMID:26609730 PMID:26633542 PMID:26790960 PMID:27030146 PMID:27159028 PMID:27652284 PMID:27681470 PMID:28191889 PMID:28492532 PMID:28554332 PMID:28711740 PMID:28878728 PMID:28932395 PMID:29082105 PMID:29171013 PMID:29389947 PMID:29445477 PMID:29681108 PMID:29981852 PMID:30542205 PMID:30612247 PMID:30713893 PMID:31332960 PMID:31487502 PMID:31665836 PMID:31785789 PMID:32307390 PMID:32382396 PMID:32387008 PMID:33037762 PMID:33504798 PMID:33843443 PMID:34325486 PMID:34368840 PMID:34906502 PMID:38703036 PMID:39825153 More...
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|
NCBI chr X:17,448,195...17,454,117
Ensembl chr X:17,448,207...17,454,117
|
|
G
|
Zfp157
|
zinc finger protein 157
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr12:21,356,253...21,393,006
Ensembl chr12:21,362,004...21,384,470
|
|
G
|
Zfp182
|
zinc finger protein 182
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:3,480,991...3,555,009
Ensembl chr X:3,472,127...3,555,013
|
|
G
|
Znf81
|
zinc finger protein 81
|
|
ISO
|
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr X:3,581,501...3,679,905
Ensembl chr X:3,589,044...3,679,333
|
|
|
G
|
Coasy
|
Coenzyme A synthase
|
|
ISO ISS
|
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6 OMIM:615643
|
OMIM ClinVar MouseDO |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21264299 PMID:24360804 PMID:25741868 PMID:27021474 PMID:28106320 PMID:28357284 PMID:28489334 PMID:28492532 PMID:28688840 PMID:30089828 PMID:31130284 PMID:33644862 PMID:34269512 PMID:36495139 PMID:36939041 PMID:38413569 More...
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|
NCBI chr10:86,514,850...86,519,130
Ensembl chr10:86,514,874...86,519,130
|
|
|
G
|
Reps1
|
RALBP1 associated Eps domain containing 1
|
|
ISO
|
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 7 | ClinVar Annotator: match by term: REPS1-related condition
|
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29395073 |
|
NCBI chr 1:14,517,589...14,595,404
Ensembl chr 1:14,517,589...14,595,404
|
|
|
G
|
Crat
|
carnitine O-acetyltransferase
|
|
ISO
|
ClinVar Annotator: match by term: CRAT-related condition | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 8
|
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29395073 PMID:31448845 PMID:34085946 |
|
NCBI chr 3:34,073,504...34,087,099
Ensembl chr 3:34,073,506...34,087,099
|
|
|
G
|
Best1
|
bestrophin 1
|
|
ISO
|
ClinVar Annotator: match by term: FTH1-related condition | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 9
|
ClinVar |
PMID:14615048 PMID:28492532 PMID:37660254 |
|
NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:216,054,395...216,070,974
|
|
G
|
Fth1
|
ferritin heavy chain 1
|
|
ISO
|
ClinVar Annotator: match by term: FTH1-related condition | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 9
|
OMIM ClinVar |
PMID:14615048 PMID:28492532 PMID:37265023 PMID:37660254 |
|
NCBI chr 1:216,052,037...216,054,325
Ensembl chr 1:216,051,998...216,055,214
|
|
|
G
|
Piga
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
ISO
|
ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hemochromatosis
|
ClinVar OMIM |
PMID:24259288 PMID:34875027 |
|
NCBI chr X:33,672,832...33,687,747
Ensembl chr X:33,674,923...33,687,636
|
|
|
G
|
Ppfibp1
|
PPFIA binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
|
ClinVar OMIM |
PMID:25741868 PMID:35830857 |
|
NCBI chr 4:181,538,249...181,682,079
Ensembl chr 4:181,539,450...181,682,076
|
|
|
G
|
Samd9
|
sterile alpha motif domain containing 9
|
|
ISO
|
ClinVar Annotator: match by term: CALCINOSIS, TUMORAL, WITH NORMOPHOSPHATEMIA | ClinVar Annotator: match by term: Normophosphatemic familial tumoral calcinosis CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:16960814 PMID:18094730 PMID:25741868 PMID:28346228 PMID:28492532 PMID:29266745 PMID:29506479 PMID:30322869 PMID:31231135 PMID:32106287 PMID:33237688 More...
|
|
NCBI chr 4:32,119,318...32,139,008
Ensembl chr 4:32,117,137...32,171,759
|
|
|
G
|
Fbn1
|
fibrillin 1
|
|
ISO
|
protein:increased expression:cortical bone, trabecular bone (mouse)
|
RGD |
PMID:11159866 |
RGD:7794797 |
NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283
|
|
G
|
Mepe
|
matrix extracellular phosphoglycoprotein
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:11414762 |
|
NCBI chr14:5,725,308...5,736,858
Ensembl chr14:5,725,175...5,736,996
|
|
|
G
|
Adam33
|
ADAM metallopeptidase domain 33
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,715,428...138,736,392
Ensembl chr 3:138,724,046...138,736,347
|
|
G
|
Adissp
|
adipose secreted signaling protein
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,817,752...138,832,208
Ensembl chr 3:138,813,179...138,831,847
|
|
G
|
Adra1d
|
adrenoceptor alpha 1D
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:139,246,333...139,262,331
Ensembl chr 3:139,246,323...139,262,331
|
|
G
|
Ap5s1
|
adaptor related protein complex 5 subunit sigma 1
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,882,634...138,885,940
Ensembl chr 3:138,882,634...138,888,899
|
|
G
|
Atrn
|
attractin
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,563,271...138,697,360
Ensembl chr 3:138,563,312...138,697,360
|
|
G
|
Avp
|
arginine vasopressin
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,246,544...138,248,522
Ensembl chr 3:138,246,554...138,248,522
|
|
G
|
Bmp2
|
bone morphogenetic protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:141,264,646...141,274,760
|
|
G
|
Cdc25b
|
cell division cycle 25B
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,860,148...138,870,287
Ensembl chr 3:138,860,130...138,870,492
|
|
G
|
Cds2
|
CDP-diacylglycerol synthase 2
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:139,967,870...140,006,459
Ensembl chr 3:139,967,742...140,009,201
|
|
G
|
Cenpb
|
centromere protein B
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,850,003...138,852,796
Ensembl chr 3:138,841,679...138,854,372
|
|
G
|
Chgb
|
chromogranin B
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:140,496,712...140,510,057
Ensembl chr 3:140,495,951...140,510,054
|
|
G
|
Cpxm1
|
carboxypeptidase X (M14 family), member 1
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,041,645...138,048,443
Ensembl chr 3:138,041,645...138,048,857
|
|
G
|
Crls1
|
cardiolipin synthase 1
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:140,572,680...140,591,543
Ensembl chr 3:140,572,716...140,591,599
|
|
G
|
Ddrgk1
|
DDRGK domain containing 1
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,315,006...138,336,691
Ensembl chr 3:138,315,282...138,335,766
|
|
G
|
Dnaaf9
|
dynein axonemal assembly factor 9
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,370,971...138,505,711
Ensembl chr 3:138,372,531...138,505,695
|
|
G
|
Ebf4
|
EBF family member 4
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:137,951,310...138,019,682
Ensembl chr 3:137,951,335...138,019,665
|
|
G
|
Fastkd5
|
FAST kinase domains 5
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,283,315...138,300,803
Ensembl chr 3:138,272,928...138,301,291
|
|
G
|
Fermt1
|
FERM domain containing kindlin 1
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
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ClinVar |
PMID:28492532 |
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NCBI chr 3:140,624,434...140,666,419
Ensembl chr 3:140,624,434...140,666,419
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G
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Gfra4
|
GDNF family receptor alpha 4
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ISO
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ClinVar Annotator: match by term: Pigmentary pallidal degeneration
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ClinVar |
PMID:28492532 |
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NCBI chr 3:138,707,970...138,715,279
Ensembl chr 3:138,703,114...138,711,561
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G
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Gpcpd1
|
glycerophosphocholine phosphodiesterase 1
|
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ISO
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ClinVar Annotator: match by term: Pigmentary pallidal degeneration
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ClinVar |
PMID:28492532 |
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NCBI chr 3:140,240,574...140,285,469
Ensembl chr 3:140,240,575...140,285,372
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G
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Hspa12b
|
heat shock protein family A (Hsp70) member 12B
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|
ISO
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ClinVar Annotator: match by term: Pigmentary pallidal degeneration
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ClinVar |
PMID:28492532 |
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NCBI chr 3:138,799,396...138,817,396
Ensembl chr 3:138,799,398...138,818,935
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G
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Idh3b
|
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
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ISO
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ClinVar Annotator: match by term: Pigmentary pallidal degeneration
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ClinVar |
PMID:28492532 |
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NCBI chr 3:137,934,971...137,940,275
Ensembl chr 3:137,934,697...137,940,107
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G
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Itpa
|
inosine triphosphatase
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ISO
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ClinVar Annotator: match by term: Pigmentary pallidal degeneration
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ClinVar |
PMID:28492532 |
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NCBI chr 3:138,338,549...138,350,329
Ensembl chr 3:138,338,349...138,350,329
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G
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Lrrn4
|
leucine rich repeat neuronal 4
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ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
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ClinVar |
PMID:28492532 |
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NCBI chr 3:140,592,303...140,603,986
Ensembl chr 3:140,592,076...140,605,574
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G
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Lzts3
|
leucine zipper tumor suppressor family member 3
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ISO
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ClinVar Annotator: match by term: Pigmentary pallidal degeneration
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ClinVar |
PMID:28492532 |
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NCBI chr 3:138,303,378...138,313,645
Ensembl chr 3:138,303,378...138,313,611
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G
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Mavs
|
mitochondrial antiviral signaling protein
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ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:138,904,673...138,919,129
Ensembl chr 3:138,904,771...138,919,126
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G
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Mcm8
|
minichromosome maintenance 8 homologous recombination repair factor
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ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
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ClinVar |
PMID:28492532 |
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NCBI chr 3:140,539,590...140,569,891
Ensembl chr 3:140,539,647...140,569,891
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G
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Mir103a2
|
microRNA 103a-2
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|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
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ClinVar |
PMID:11479594 PMID:12510040 PMID:15565311 PMID:15659606 PMID:16272150 PMID:16437574 PMID:23968566 PMID:25741868 PMID:25802776 PMID:26087139 PMID:27185474 PMID:28492532 PMID:28781879 More...
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NCBI chr 3:138,963,227...138,963,312
Ensembl chr 3:138,963,227...138,963,312
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G
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Mrps26
|
mitochondrial ribosomal protein S26
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|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
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ClinVar |
PMID:28492532 |
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NCBI chr 3:138,222,324...138,223,987
Ensembl chr 3:138,222,165...138,223,987
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G
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Nop56
|
NOP56 ribonucleoprotein
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ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
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ClinVar |
PMID:28492532 |
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NCBI chr 3:137,926,187...137,934,971
Ensembl chr 3:137,929,646...137,934,959
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G
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Oxt
|
oxytocin/neurophysin I prepropeptide
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|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
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ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,235,754...138,236,594
Ensembl chr 3:138,235,754...138,236,594
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G
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Pank2
|
pantothenate kinase 2
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ISO
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ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | ClinVar Annotator: match by term: Pantothenate kinase-associated neurodegeneration | ClinVar Annotator: match by term: Pigmentary pallidal degeneration CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:1301187 PMID:1734303 PMID:3043782 PMID:7898702 PMID:9536098 PMID:11479594 PMID:12058097 PMID:12510040 PMID:12523119 PMID:12811783 PMID:14580665 PMID:14631201 PMID:14638969 PMID:14639680 PMID:14743358 PMID:15465096 PMID:15565311 PMID:15659606 PMID:15747360 PMID:15834858 PMID:15843062 PMID:15911822 PMID:16023068 PMID:16149094 PMID:16157712 PMID:16199547 PMID:16240131 PMID:16272150 PMID:16437574 PMID:16450344 PMID:16758184 PMID:16962235 PMID:17576681 PMID:17631502 PMID:17903678 PMID:18006953 PMID:18074375 PMID:18462962 PMID:19224615 PMID:20076801 PMID:20193558 PMID:20497339 PMID:20551478 PMID:20603201 PMID:20629144 PMID:20721927 PMID:20976082 PMID:21198414 PMID:21459825 PMID:21480873 PMID:21877312 PMID:22103354 PMID:22127788 PMID:22221393 PMID:22416811 PMID:22547525 PMID:22682757 PMID:23166001 PMID:23634310 PMID:23644322 PMID:23757202 PMID:23968566 PMID:24033266 PMID:24075960 PMID:24209433 PMID:24215330 PMID:24250886 PMID:24348190 PMID:24689511 PMID:24712887 PMID:24868354 PMID:25268133 PMID:25640679 PMID:25741868 PMID:25802776 PMID:25915509 PMID:26087139 PMID:26467025 PMID:26547561 PMID:26795593 PMID:26828213 PMID:27185474 PMID:27303611 PMID:27544236 PMID:27815806 PMID:28094106 PMID:28113101 PMID:28357202 PMID:28492532 PMID:28680084 PMID:28681788 PMID:28708303 PMID:28781879 PMID:28821231 PMID:28845923 PMID:28863176 PMID:28881514 PMID:29590070 PMID:29801903 PMID:30226968 PMID:30363610 PMID:30681573 PMID:31088771 PMID:31371123 PMID:31540697 PMID:32043823 PMID:32310012 PMID:32456086 PMID:32581362 PMID:32654475 PMID:32705819 PMID:32851917 PMID:33043782 PMID:33072517 PMID:33098801 PMID:33853092 PMID:34015165 PMID:34272103 PMID:35246191 PMID:35861376 PMID:35872528 PMID:37947042 PMID:39825153 More...
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NCBI chr 3:138,936,448...138,974,196
Ensembl chr 3:138,936,452...138,974,194
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G
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Pced1a
|
PC-esterase domain containing 1A
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
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NCBI chr 3:138,049,747...138,076,107
Ensembl chr 3:138,067,891...138,075,146
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G
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Pcna
|
proliferating cell nuclear antigen
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:139,951,941...139,955,901
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G
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Pdyn
|
prodynorphin
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|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:137,354,161...137,366,503
Ensembl chr 3:137,354,161...137,366,503
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G
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Prnd
|
prion like protein doppel
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|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:139,666,383...139,671,647
Ensembl chr 3:139,666,068...139,671,890
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G
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Prnp
|
prion protein
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|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:139,630,144...139,658,436
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G
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Prokr2
|
prokineticin receptor 2
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|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:140,077,629...140,092,327
Ensembl chr 3:140,077,630...140,092,093
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G
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Ptpra
|
protein tyrosine phosphatase, receptor type, A
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|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,103,261...138,212,835
Ensembl chr 3:138,098,110...138,213,126
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G
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Rassf2
|
Ras association domain family member 2
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|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:139,697,187...139,733,402
Ensembl chr 3:139,697,187...139,733,368
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G
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Rnf24
|
ring finger protein 24
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|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,973,492...138,987,354
Ensembl chr 3:138,973,492...139,028,177
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G
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Shld1
|
shieldin complex subunit 1
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|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
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NCBI chr 3:140,391,611...140,462,273
Ensembl chr 3:140,389,220...140,462,609
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G
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Siglec1
|
sialic acid binding Ig like lectin 1
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|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,740,171...138,759,966
Ensembl chr 3:138,741,019...138,759,881
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G
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Slc23a2
|
solute carrier family 23 member 2
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:139,755,583...139,913,304
Ensembl chr 3:139,755,584...139,847,343
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G
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Slc4a11
|
solute carrier family 4 member 11
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|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,353,305...138,365,983
Ensembl chr 3:138,353,305...138,365,754
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G
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Smox
|
spermine oxidase
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|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
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NCBI chr 3:139,184,793...139,220,174
Ensembl chr 3:139,184,798...139,220,170 Ensembl chr X:139,184,798...139,220,170
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G
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Snca
|
synuclein alpha
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|
ISO
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|
RGD |
PMID:10934140 |
RGD:6480098 |
NCBI chr 4:91,026,474...91,127,444
Ensembl chr 4:91,026,474...91,126,315
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G
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Sncb
|
synuclein, beta
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ISO
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RGD |
PMID:10934140 |
RGD:6480098 |
NCBI chr17:9,851,825...9,860,143
Ensembl chr17:9,840,019...9,860,142
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G
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Sncg
|
synuclein, gamma
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ISO
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RGD |
PMID:10934140 |
RGD:6480098 |
NCBI chr16:9,706,765...9,712,072
Ensembl chr16:9,706,753...9,712,076
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G
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Snrpb
|
small nuclear ribonucleoprotein polypeptides B and B1
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:137,824,870...137,832,479
Ensembl chr 3:137,824,683...137,832,515
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G
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Spef1
|
sperm flagellar 1
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|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,843,679...138,849,762
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G
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Stk35
|
serine/threonine kinase 35
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:137,465,884...137,498,554
Ensembl chr 3:137,470,110...137,498,940
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G
|
Tgm3
|
transglutaminase 3
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:137,681,809...137,717,219
Ensembl chr 3:137,681,809...137,717,219
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G
|
Tgm6
|
transglutaminase 6
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:137,771,368...137,809,000
Ensembl chr 3:137,774,630...137,807,873
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G
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Tmc2
|
transmembrane channel-like 2
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|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:137,849,513...137,917,462
Ensembl chr 3:137,849,513...137,917,462
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G
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Tmem230
|
transmembrane protein 230
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
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NCBI chr 3:139,925,878...139,950,517
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G
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Tmem239
|
transmembrane 239
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ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,057,799...138,059,090
Ensembl chr 3:138,053,765...138,063,665
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G
|
Trmt6
|
tRNA methyltransferase 6 non-catalytic subunit
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:140,527,785...140,539,520
Ensembl chr 3:140,527,788...140,539,509
|
|
G
|
Ubox5
|
U-box domain containing 5
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,259,311...138,300,807
Ensembl chr 3:138,259,311...138,300,807
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G
|
Vps16
|
VPS16 core subunit of CORVET and HOPS complexes
|
|
ISO
|
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
|
ClinVar |
PMID:28492532 |
|
NCBI chr 3:138,075,649...138,097,154
Ensembl chr 3:138,075,660...138,110,632
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G
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Pth
|
parathyroid hormone
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IEP
|
protein:decreased expression:serum (rat)
|
RGD |
PMID:22859939 |
RGD:8655928 |
NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034
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|
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G
|
Zbtb20
|
zinc finger and BTB domain containing 20
|
|
ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Primrose syndrome | ClinVar Annotator: match by term: ZBTB20-related condition
|
CTD ClinVar OMIM |
PMID:6809950 PMID:21567911 PMID:21910247 PMID:25017102 PMID:25741868 PMID:27061120 PMID:28327206 PMID:28462983 PMID:28492532 PMID:29737001 PMID:30256248 PMID:30637921 PMID:31321892 PMID:32071410 PMID:32266967 PMID:38177409 More...
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NCBI chr11:70,558,010...71,297,039
Ensembl chr11:70,580,930...70,736,237
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G
|
Ocln
|
occludin
|
|
ISO
|
ClinVar Annotator: match by term: Pseudo-TORCH syndrome 1
|
OMIM ClinVar |
PMID:18414213 PMID:19012351 PMID:20727516 PMID:25558065 PMID:25741868 PMID:28179633 PMID:28492532 More...
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NCBI chr 2:33,391,303...33,442,207
Ensembl chr 2:33,391,303...33,430,411
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|
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G
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Usp18
|
ubiquitin specific peptidase 18
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|
ISO
|
ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2 | ClinVar Annotator: match by term: USP18-related condition
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OMIM ClinVar |
PMID:12833411 PMID:25741868 PMID:27325888 PMID:28492532 PMID:31940699 |
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NCBI chr 4:156,143,770...156,171,292
Ensembl chr 4:156,143,815...156,171,292
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|
|
G
|
Stat2
|
signal transducer and activator of transcription 2
|
|
ISO
|
ClinVar Annotator: match by term: Pseudo-TORCH syndrome 3
|
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31836668 PMID:32092142 |
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NCBI chr 7:1,287,025...1,302,858
Ensembl chr 7:1,287,024...1,303,459
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G
|
Gnas
|
GNAS complex locus
|
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ISO ISS
|
DNA:deletions:exon ClinVar Annotator: match by term: Pseudohypoparathyroidism CTD Direct Evidence: marker/mechanism OMIM:612462
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ClinVar CTD MouseDO RGD |
PMID:219790 PMID:1505964 PMID:2109828 PMID:2122458 PMID:8388883 PMID:8557265 PMID:8702665 PMID:9159128 PMID:9328353 PMID:9506752 PMID:9876352 PMID:10487696 PMID:10980525 PMID:11073544 PMID:11092390 PMID:11095461 PMID:11450852 PMID:11588148 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:12970262 PMID:15711092 PMID:17164301 PMID:17299070 PMID:17962410 PMID:18553568 PMID:18796523 PMID:20427508 PMID:21274345 PMID:21488135 PMID:21525160 PMID:21713996 PMID:21747923 PMID:21823526 PMID:21836370 PMID:23281139 PMID:23533243 PMID:23796510 PMID:23884777 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24651309 PMID:25044890 PMID:25219572 PMID:25326637 PMID:25741868 PMID:25802881 PMID:26633545 PMID:27703483 PMID:28296742 PMID:28492532 PMID:29059381 PMID:29072892 PMID:29193623 PMID:29379892 PMID:30349702 PMID:30674755 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:34008892 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 PMID:10487696 PMID:18812479 PMID:11600516 More...
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RGD:11568042, RGD:11568048, RGD:11568047 |
NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:183,503,243...183,554,536
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|
G
|
Pth1r
|
parathyroid hormone 1 receptor
|
|
ISO
|
ClinVar Annotator: match by term: Pseudohypoparathyroidism
|
ClinVar |
PMID:25741868 PMID:35846276 |
|
NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:119,575,868...119,598,108
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|
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G
|
Gnas
|
GNAS complex locus
|
|
ISO ISS
|
ClinVar Annotator: match by term: Albright hereditary osteodystrophy with multiple hormone resistance | ClinVar Annotator: match by term: PHP IA | ClinVar Annotator: match by term: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS | ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IA | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1A OMIM:103580 DNA:deletions:exon:multiple DNA:splice-site mutation
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OMIM ClinVar MouseDO RGD |
PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2109828 PMID:2549426 PMID:3720010 PMID:8072545 PMID:8388883 PMID:8702665 PMID:9159128 PMID:9727013 PMID:9876352 PMID:10571700 PMID:10980525 PMID:11092390 PMID:11093740 PMID:11412411 PMID:11450852 PMID:11588148 PMID:11600516 PMID:11784876 PMID:11788646 PMID:11926205 PMID:12024004 PMID:12621129 PMID:12727968 PMID:12970262 PMID:12970318 PMID:15126527 PMID:15711092 PMID:15952988 PMID:16507630 PMID:17164301 PMID:18553568 PMID:18796523 PMID:20427508 PMID:21488135 PMID:21525160 PMID:21835143 PMID:21910239 PMID:23281139 PMID:23403822 PMID:23533243 PMID:23536913 PMID:23796510 PMID:23843956 PMID:23884777 PMID:24033266 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24651309 PMID:24728327 PMID:24855271 PMID:24914079 PMID:24982418 PMID:25044890 PMID:25157968 PMID:25219572 PMID:25719192 PMID:25741868 PMID:25802881 PMID:25851935 PMID:26341786 PMID:26574629 PMID:26633545 PMID:27398169 PMID:27506760 PMID:27703483 PMID:28492532 PMID:28708303 PMID:29059381 PMID:29072892 PMID:29095814 PMID:29379892 PMID:29620724 PMID:29628140 PMID:29970488 PMID:29991465 PMID:30022773 PMID:30349702 PMID:30420871 PMID:30674755 PMID:30702195 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:33270042 PMID:34008892 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 PMID:11095461 PMID:11600516 More...
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RGD:11568049, RGD:11568047 |
NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:183,503,243...183,554,536
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G
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Pthlh
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parathyroid hormone-like hormone
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ISS
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OMIM:103580
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MouseDO |
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NCBI chr 4:181,919,400...181,930,454
Ensembl chr 4:181,919,400...181,930,454
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G
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Ghsr
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growth hormone secretagogue receptor
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ISO
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ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B
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ClinVar |
PMID:17595244 |
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NCBI chr 2:112,196,158...112,201,666
Ensembl chr 2:112,196,767...112,201,181
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G
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Gnas
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GNAS complex locus
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ISO
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DNA:hypomethylation:exon, promoter ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IB | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B DNA:deletion, hypomethylation DNA:mutations:exon, intron:multiple
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ClinVar OMIM RGD |
PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8702665 PMID:8766942 PMID:9626141 PMID:9876352 PMID:10571700 PMID:10980525 PMID:11092390 PMID:11093740 PMID:11588148 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:12727968 PMID:12970262 PMID:12970318 PMID:15126527 PMID:15592469 PMID:15711092 PMID:15952988 PMID:16199547 PMID:16507630 PMID:16543670 PMID:17164301 PMID:17873334 PMID:18553568 PMID:18796523 PMID:20015054 PMID:20197676 PMID:20427508 PMID:21525160 PMID:21835143 PMID:23281139 PMID:23403822 PMID:23533243 PMID:23536913 PMID:23796510 PMID:23843956 PMID:23884777 PMID:24033266 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24728327 PMID:24855271 PMID:24914079 PMID:25044890 PMID:25157968 PMID:25219572 PMID:25719192 PMID:25741868 PMID:25802881 PMID:26341786 PMID:26574629 PMID:26633545 PMID:27398169 PMID:27506760 PMID:27703483 PMID:28492532 PMID:29059381 PMID:29072892 PMID:29379892 PMID:29628140 PMID:29991465 PMID:30349702 PMID:30674755 PMID:30702195 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 PMID:15537666 PMID:22378814 PMID:18812479 PMID:12621129 More...
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RGD:11568043, RGD:11568050, RGD:11568048, RGD:11568044 |
NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:183,503,243...183,554,536
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G
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Stx16
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syntaxin 16
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ISO
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ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IB | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B
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OMIM ClinVar |
PMID:9536098 PMID:14561710 PMID:15579741 PMID:15800843 PMID:17576681 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:183,271,417...183,300,746
Ensembl chr 3:183,272,031...183,300,745
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G
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Gnas
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GNAS complex locus
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ISO
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ClinVar Annotator: match by term: PHP IC | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1C
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OMIM ClinVar |
PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:8702665 PMID:9876352 PMID:10571700 PMID:10980525 PMID:11092390 PMID:11093740 PMID:11588148 PMID:11600516 PMID:11784876 PMID:11788646 PMID:12024004 PMID:12621129 PMID:12727968 PMID:12970262 PMID:12970318 PMID:15126527 PMID:15711092 PMID:15952988 PMID:16507630 PMID:17164301 PMID:18553568 PMID:18796523 PMID:20427508 PMID:21488135 PMID:21525160 PMID:21835143 PMID:23281139 PMID:23403822 PMID:23533243 PMID:23536913 PMID:23796510 PMID:23843956 PMID:23884777 PMID:24033266 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24651309 PMID:24728327 PMID:24855271 PMID:25044890 PMID:25157968 PMID:25219572 PMID:25719192 PMID:25741868 PMID:25802881 PMID:26341786 PMID:26574629 PMID:26633545 PMID:27398169 PMID:27506760 PMID:27703483 PMID:28492532 PMID:29059381 PMID:29072892 PMID:29379892 PMID:29991465 PMID:30349702 PMID:30674755 PMID:30702195 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 More...
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NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:183,503,243...183,554,536
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G
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Gnas
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GNAS complex locus
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ISO ISS
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ClinVar Annotator: match by term: ALBRIGHT HEREDITARY OSTEODYSTROPHY WITHOUT MULTIPLE HORMONE RESISTANCE | ClinVar Annotator: match by term: Albright hereditary osteodystrophy without multiple hormone resistance | ClinVar Annotator: match by term: Pseudopseudohypoparathyroidism OMIM:612463 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar MouseDO CTD |
PMID:219790 PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2122458 PMID:2549426 PMID:3720010 PMID:7853365 PMID:8702665 PMID:9506752 PMID:9727013 PMID:9876352 PMID:10487696 PMID:10571700 PMID:10980525 PMID:11092390 PMID:11093740 PMID:11095461 PMID:11588148 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:12624854 PMID:12727968 PMID:12970318 PMID:15126527 PMID:15711092 PMID:15952988 PMID:16199547 PMID:16507630 PMID:17164301 PMID:18553568 PMID:18796523 PMID:20427508 PMID:21274345 PMID:21525160 PMID:21835143 PMID:23281139 PMID:23403822 PMID:23533243 PMID:23536913 PMID:23796510 PMID:23843956 PMID:23884777 PMID:24033266 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24728327 PMID:24855271 PMID:25044890 PMID:25157968 PMID:25219572 PMID:25464124 PMID:25594858 PMID:25719192 PMID:25741868 PMID:25802881 PMID:26341786 PMID:26574629 PMID:26633545 PMID:27398169 PMID:27506760 PMID:27703483 PMID:28296742 PMID:28492532 PMID:28708303 PMID:29059381 PMID:29072892 PMID:29095814 PMID:29379892 PMID:29991465 PMID:30349702 PMID:30674755 PMID:30702195 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:34008892 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 PMID:35792504 More...
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NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:183,503,243...183,554,536
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G
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Slc34a2
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solute carrier family 34 member 2
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PULMONARY ALVEOLAR MICROLITHIASIS | ClinVar Annotator: match by term: SLC34A2-related condition
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OMIM CTD ClinVar |
PMID:11287838 PMID:16960801 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr14:62,123,313...62,153,020
Ensembl chr14:62,123,316...62,143,360
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G
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Fam20c
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FAM20C, golgi associated secretory pathway kinase
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ISO
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ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia CTD Direct Evidence: marker/mechanism DNA:deletion, snps, missense mutations:multiple (human)
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OMIM ClinVar CTD RGD |
PMID:2020859 PMID:9536098 PMID:12868469 PMID:14564151 PMID:17576681 PMID:17924334 PMID:19250384 PMID:20825432 PMID:22582013 PMID:24033266 PMID:25026495 PMID:25741868 PMID:27862258 PMID:28492532 PMID:32093234 PMID:32299476 PMID:32337609 PMID:17924334 More...
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RGD:11560486 |
NCBI chr12:20,940,654...20,999,072
Ensembl chr12:20,940,654...20,998,318
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G
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Farsb
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phenylalanyl-tRNA synthetase subunit beta
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ISO
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ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications
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ClinVar |
PMID:19161147 PMID:25741868 PMID:28492532 PMID:29573043 PMID:29979980 PMID:30014610 PMID:35937029 More...
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NCBI chr 9:87,336,321...87,395,546
Ensembl chr 9:87,336,326...87,395,505
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G
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Farsb
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phenylalanyl-tRNA synthetase subunit beta
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ISO
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ClinVar Annotator: match by term: FARSB-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1
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OMIM ClinVar |
PMID:19161147 PMID:25741868 PMID:28492532 PMID:29573043 PMID:29979980 PMID:30014610 PMID:35937029 More...
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NCBI chr 9:87,336,321...87,395,546
Ensembl chr 9:87,336,326...87,395,505
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G
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Farsa
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phenylalanyl-tRNA synthetase subunit alpha
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ISO
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ClinVar Annotator: match by term: FARSA-related condition | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 2
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OMIM ClinVar |
PMID:25741868 PMID:31355908 PMID:33598926 PMID:35132614 PMID:35918773 |
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NCBI chr19:40,196,255...40,205,830
Ensembl chr19:40,173,716...40,205,823
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G
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Cldn16
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claudin 16
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ISO
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ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement
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ClinVar |
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NCBI chr11:87,795,106...87,814,396
Ensembl chr11:87,795,106...87,814,396
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G
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Cldn19
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claudin 19
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CLDN19-related condition | ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement
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OMIM CTD ClinVar |
PMID:17033971 PMID:18188451 PMID:22422540 PMID:23301036 PMID:25366522 PMID:25410674 PMID:25741868 PMID:27530400 PMID:28492532 PMID:28893421 PMID:33025205 PMID:33532864 PMID:34805638 More...
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NCBI chr 5:138,148,234...138,155,672
Ensembl chr 5:138,148,501...138,155,666
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G
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Egf
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epidermal growth factor
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ISO
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ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive
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ClinVar |
PMID:28492532 |
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NCBI chr 2:220,893,660...220,976,331
Ensembl chr 2:220,893,660...220,976,297
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G
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Pth
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parathyroid hormone
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ISO
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associated with Kidney Failure, Chronic; protein:decreased expression:serum (human)
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RGD |
PMID:18480316 |
RGD:7242687 |
NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034
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G
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Casr
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calcium-sensing receptor
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ISO
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RGD |
PMID:12671052 |
RGD:734698 |
NCBI chr11:77,738,398...77,813,639
Ensembl chr11:77,740,614...77,810,167
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G
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Cyp27b1
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cytochrome P450, family 27, subfamily b, polypeptide 1
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ISO ISS
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vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S CTD Direct Evidence: marker/mechanism
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MouseDO CTD RGD |
PMID:16494812 PMID:9486994 PMID:11416220 |
RGD:1600874, RGD:734871 |
NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:64,756,626...64,761,570
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G
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Fam20c
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FAM20C, golgi associated secretory pathway kinase
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ISS
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OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785
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MouseDO |
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NCBI chr12:20,940,654...20,999,072
Ensembl chr12:20,940,654...20,998,318
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G
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Pth
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parathyroid hormone
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:10375030 |
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NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034
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G
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Pth1r
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parathyroid hormone 1 receptor
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:10375030 |
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NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:119,575,868...119,598,108
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G
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Vdr
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vitamin D receptor
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ISO ISS
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VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human) ClinVar Annotator: match by term: Rickets CTD Direct Evidence: marker/mechanism
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ClinVar MouseDO CTD RGD |
PMID:1338926 PMID:8392085 PMID:17451081 PMID:22145479 PMID:22466564 PMID:25741868 PMID:28492532 PMID:28620554 PMID:35738466 PMID:2849209 More...
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RGD:1624354 |
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757
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G
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Pik3r1
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phosphoinositide-3-kinase regulatory subunit 1
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ISO ISS
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ClinVar Annotator: match by term: SHORT syndrome OMIM:269880 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar MouseDO CTD |
PMID:269880 PMID:6407320 PMID:7705412 PMID:8574420 PMID:9536098 PMID:10768093 PMID:11135494 PMID:12514365 PMID:16199547 PMID:17576681 PMID:18384141 PMID:18414213 PMID:22351933 PMID:23810378 PMID:23810379 PMID:23810382 PMID:23980586 PMID:24033266 PMID:24088041 PMID:24728327 PMID:24886349 PMID:25133428 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 PMID:26222500 PMID:26497935 PMID:26529633 PMID:26633545 PMID:26974159 PMID:27076228 PMID:27116393 PMID:27221134 PMID:27693481 PMID:27766312 PMID:28104464 PMID:28143957 PMID:28302518 PMID:28492532 PMID:28632845 PMID:29051493 PMID:29178053 PMID:29636477 PMID:29740032 PMID:31031754 PMID:32499645 PMID:34008892 PMID:34307262 PMID:34922003 PMID:35753512 More...
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NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:34,612,946...34,626,347
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G
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Ifih1
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interferon induced with helicase C domain 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
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NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:67,637,545...67,683,968
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G
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Ifih1
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interferon induced with helicase C domain 1
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ISO
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ClinVar Annotator: match by term: Singleton-Merten syndrome 1
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OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19264985 PMID:19324880 PMID:19763152 PMID:20307669 PMID:21070929 PMID:22406018 PMID:24686847 PMID:24995871 PMID:25620204 PMID:25741868 PMID:26284909 PMID:26833990 PMID:27477329 PMID:28008999 PMID:28319323 PMID:28475458 PMID:28492532 PMID:28605144 PMID:28606988 PMID:28716935 PMID:29018476 PMID:29270977 PMID:30219631 PMID:30564185 PMID:30707351 PMID:31069529 PMID:31178897 PMID:31898846 PMID:32853466 PMID:33440462 PMID:34185153 PMID:34539730 PMID:34975878 PMID:35086391 PMID:35211430 PMID:35410415 PMID:35754802 PMID:36426976 PMID:36703223 PMID:37342449 More...
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NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:67,637,545...67,683,968
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G
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Rig1
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RNA sensor RIG-1
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ISO
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ClinVar Annotator: match by term: RIGI-related condition | ClinVar Annotator: match by term: Singleton-Merten syndrome 2
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OMIM ClinVar |
PMID:25620203 PMID:25741868 PMID:28180316 PMID:28492532 |
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NCBI chr 5:60,117,398...60,165,995
Ensembl chr 5:60,117,398...60,165,995
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G
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Akap5
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A-kinase anchoring protein 5
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IEP
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mRNA:increased expression:dentate gyrus (rat)
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RGD |
PMID:12542670 |
RGD:2313247 |
NCBI chr 6:100,787,169...100,796,712
Ensembl chr 6:100,790,148...100,796,620
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G
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Cnnm2
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cyclin and CBS domain divalent metal cation transport mediator 2
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:23027747 |
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NCBI chr 1:255,585,063...255,709,455
Ensembl chr 1:255,585,095...255,704,849
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G
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Spink1
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serine peptidase inhibitor, Kazal type 1
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susceptibility
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Tropical calcific pancreatitis
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CTD OMIM ClinVar |
PMID:10691414 PMID:10835640 PMID:11265669 PMID:11355022 PMID:12011155 PMID:12187509 PMID:12483248 PMID:12629264 PMID:12743777 PMID:12853682 PMID:15980664 PMID:16849362 PMID:16885867 PMID:17003641 PMID:17204147 PMID:17466744 PMID:17525091 PMID:17568390 PMID:18286680 PMID:18414673 PMID:18617776 PMID:18978175 PMID:19299380 PMID:19453252 PMID:19565042 PMID:19888199 PMID:20433692 PMID:21303407 PMID:21375584 PMID:21610753 PMID:21952138 PMID:22343981 PMID:22427236 PMID:22526274 PMID:22749696 PMID:22995991 PMID:23017645 PMID:23741238 PMID:23951356 PMID:24033266 PMID:24522117 PMID:24844923 PMID:24909264 PMID:25010710 PMID:25206283 PMID:25741868 PMID:25792561 PMID:25927356 PMID:26632706 PMID:26719302 PMID:27535533 PMID:27578509 PMID:28492532 PMID:28502372 PMID:28546062 PMID:28556356 PMID:28609377 PMID:28687971 PMID:28984793 PMID:28994706 PMID:29521951 PMID:31401021 PMID:33515547 PMID:34828289 PMID:35974416 More...
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NCBI chr18:36,121,626...36,133,596
Ensembl chr18:36,076,399...36,133,545
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G
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Ager
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advanced glycosylation end product-specific receptor
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disease_progression
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ISO
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associated with Renal Insufficiency, Chronic; protein:decreased expression:serum (human) associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (mouse)
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RGD |
PMID:21643645 PMID:22305260 PMID:21099228 |
RGD:7243940, RGD:7245562, RGD:7243959 |
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,151,965...4,155,685
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G
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Cd40
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CD40 molecule
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ISO
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associated with Coronary Artery Disease
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RGD |
PMID:16494885 |
RGD:7248436 |
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847
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G
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Cd40lg
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CD40 ligand
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ISO
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associated with Coronary Artery Disease
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RGD |
PMID:16494885 |
RGD:7248436 |
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:140,164,302...140,176,475
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G
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Ctnnb1
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catenin beta 1
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ISO
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CTD Direct Evidence: therapeutic
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CTD |
PMID:23223575 |
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NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662
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G
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Gpx3
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glutathione peroxidase 3
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treatment
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IEP
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associated with obesity
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RGD |
PMID:24370590 |
RGD:401827910 |
NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,529,448...39,537,405
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G
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Kl
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Klotho
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ISO
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RGD |
PMID:21115613 |
RGD:10403077 |
NCBI chr12:5,326,003...5,367,016
Ensembl chr12:5,325,959...5,367,015
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G
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Mgp
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matrix Gla protein
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:21705322 |
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NCBI chr 4:171,497,472...171,500,888
Ensembl chr 4:171,497,471...171,500,859
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G
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Mthfr
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methylenetetrahydrofolate reductase
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severity
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ISO
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DNA:transition:cds:g.677C>T (human)
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RGD |
PMID:21394321 |
RGD:6893475 |
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105
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G
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Pla2g7
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phospholipase A2 group VII
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ISO
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DNA:SNPs:cds, intron:multiple
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RGD |
PMID:22340269 |
RGD:6482770 |
NCBI chr 9:24,859,491...24,901,747
Ensembl chr 9:24,859,502...24,901,747
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G
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Pth
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parathyroid hormone
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disease_progression
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IDA IEP
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associated with Kidney Failure, Chronic protein:increased expression:serum (rat)
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RGD |
PMID:23486515 PMID:22634235 |
RGD:7242416, RGD:7242900 |
NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034
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G
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Runx2
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RUNX family transcription factor 2
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treatment
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IEP
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associated with chronic kidney disease;
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RGD |
PMID:31866376 |
RGD:598092521 |
NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:23,664,952...23,990,027
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G
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Cyp27b1
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cytochrome P450, family 27, subfamily b, polypeptide 1
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ISO
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ClinVar Annotator: match by term: Vitamin D-dependent rickets
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ClinVar |
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NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:64,756,626...64,761,570
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G
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Vdr
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vitamin D receptor
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ISO
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ClinVar Annotator: match by term: Vitamin D-dependent rickets
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757
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G
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Cyp27b1
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cytochrome P450, family 27, subfamily b, polypeptide 1
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treatment
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ISO IMP
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ClinVar Annotator: match by term: CYP27B1-related condition | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD RGD |
PMID:9415400 PMID:9486994 PMID:9536098 PMID:9837822 PMID:10518789 PMID:10566658 PMID:11737215 PMID:12050193 PMID:16199547 PMID:17488797 PMID:17576681 PMID:18394115 PMID:20926527 PMID:21107545 PMID:21700898 PMID:22190362 PMID:22443290 PMID:22588163 PMID:23423976 PMID:23444327 PMID:23483640 PMID:24197768 PMID:25086671 PMID:25284246 PMID:25363760 PMID:25741868 PMID:26734137 PMID:27287609 PMID:27399352 PMID:28492532 PMID:30282619 PMID:30382318 PMID:31261480 PMID:32926064 PMID:32932410 PMID:35279323 PMID:35738466 PMID:36321535 PMID:36405822 PMID:36561972 PMID:36692815 PMID:32231239 More...
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RGD:32716373 |
NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:64,756,626...64,761,570
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G
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Cyp27b1em1Thka
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cytochrome P450, family 27, subfamily b, polypeptide 1; CRISPR/Cas9 induced mutant 1, Thka
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treatment
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IMP
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RGD |
PMID:32231239 |
RGD:32716373 |
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G
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Cyp2r1
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cytochrome P450, family 2, subfamily r, polypeptide 1
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ISO
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ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1
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ClinVar |
PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:25741868 PMID:25942481 PMID:28492532 PMID:28548312 PMID:32115644 More...
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NCBI chr 1:178,166,984...178,232,191
Ensembl chr 1:178,219,704...178,232,423
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G
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Foxp2
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forkhead box P2
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ISO
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ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:44,099,848...44,677,700
Ensembl chr 4:44,099,959...44,677,696
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G
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Pde3b
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phosphodiesterase 3B
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ISO
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ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1
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ClinVar |
PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:25741868 PMID:25942481 PMID:28492532 PMID:28548312 PMID:32115644 More...
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NCBI chr 1:178,041,207...178,204,503
Ensembl chr 1:178,041,207...178,204,503
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G
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Cyp2r1
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cytochrome P450, family 2, subfamily r, polypeptide 1
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ISO
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ClinVar Annotator: match by term: CYP2R1-related condition | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:8201479 PMID:10969262 PMID:15128933 PMID:16199547 PMID:16549493 PMID:22855339 PMID:25741868 PMID:25942481 PMID:27716192 PMID:28492532 PMID:28548312 PMID:32115644 PMID:33715104 PMID:34137732 PMID:34633109 More...
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NCBI chr 1:178,166,984...178,232,191
Ensembl chr 1:178,219,704...178,232,423
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G
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Pde3b
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phosphodiesterase 3B
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ISO
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ClinVar Annotator: match by term: CYP2R1-related condition | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B
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ClinVar |
PMID:8201479 PMID:10969262 PMID:15128933 PMID:16199547 PMID:16549493 PMID:22855339 PMID:25741868 PMID:25942481 PMID:27716192 PMID:28492532 PMID:28548312 PMID:32115644 PMID:33715104 PMID:34137732 PMID:34633109 More...
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NCBI chr 1:178,041,207...178,204,503
Ensembl chr 1:178,041,207...178,204,503
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G
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Phyh
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phytanoyl-CoA 2-hydroxylase
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ISO
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ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL
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ClinVar |
PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 PMID:27535533 PMID:28492532 PMID:34426522 More...
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NCBI chr17:78,238,747...78,255,645
Ensembl chr17:78,238,747...78,255,645
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G
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Prss1
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serine protease 1
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ISO
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ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A
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ClinVar |
PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 PMID:10204851 PMID:10514442 PMID:10691414 PMID:10801865 PMID:10835640 PMID:10872414 PMID:10909845 PMID:10982753 PMID:11097832 PMID:11247900 PMID:11312265 PMID:11719509 PMID:11788572 PMID:11842279 PMID:11932257 PMID:11950817 PMID:12011155 PMID:12853682 PMID:15028953 PMID:15776435 PMID:15786540 PMID:16632094 PMID:17204147 PMID:17568390 PMID:18286680 PMID:18511571 PMID:18755888 PMID:19453252 PMID:21415673 PMID:22379635 PMID:22539344 PMID:23143602 PMID:24002981 PMID:24458023 PMID:24525505 PMID:25741868 PMID:27578509 PMID:27673710 PMID:28492532 PMID:28861620 PMID:30420730 More...
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NCBI chr 4:71,331,249...71,334,452
Ensembl chr 4:71,331,246...71,334,452
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G
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Vdr
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vitamin D receptor
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treatment
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ISO IMP
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ClinVar Annotator: match by term: GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D | ClinVar Annotator: match by term: PDDR IIA | ClinVar Annotator: match by term: PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA | ClinVar Annotator: match by term: RICKETS-ALOPECIA SYNDROME | ClinVar Annotator: match by term: VDR-related condition | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds: DNA:missense mutation:cds:P.K45E(human) DNA:missense mutations,nonsense mutation:exon,splice junction:
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OMIM ClinVar CTD RGD |
PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 PMID:2849209 PMID:3024987 PMID:8392085 PMID:8675579 PMID:8862631 PMID:8961271 PMID:9005998 PMID:9284761 PMID:9360557 PMID:9495519 PMID:9536098 PMID:10204116 PMID:10707958 PMID:11564167 PMID:15308610 PMID:17130574 PMID:17371163 PMID:17576681 PMID:17970811 PMID:18159135 PMID:18279374 PMID:18593774 PMID:19049339 PMID:19169476 PMID:19682379 PMID:20200114 PMID:21073129 PMID:21168462 PMID:21424181 PMID:21931507 PMID:22145479 PMID:23180655 PMID:24033266 PMID:24246681 PMID:24859502 PMID:25741868 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26787776 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28377956 PMID:28492532 PMID:28620554 PMID:29949513 PMID:30967742 PMID:31557081 PMID:32997713 PMID:35738466 PMID:36705686 PMID:37080976 PMID:32231239 PMID:24693968 PMID:24859502 PMID:25201466 PMID:24246681 PMID:9275211 More...
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RGD:32716373, RGD:13432060, RGD:13210792, RGD:13210780, RGD:13210778, RGD:8158074 |
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757
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G
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Vdrem1Thka
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vitamin D receptor; CRISPR/Cas9 induced mutant 1, Thka
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treatment
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IMP
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RGD |
PMID:32231239 |
RGD:32716373 |
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G
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Vdrem2Thka
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vitamin D receptor; CRISPR/Cas9 induced mutant 2, Thka
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treatment
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IMP
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compared to untreated vdr KO
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RGD |
PMID:32231239 |
RGD:32716373 |
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G
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Cyp3a2
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cytochrome P450, family 3, subfamily a, polypeptide 2
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ISO
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ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 3
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OMIM ClinVar |
PMID:25741868 PMID:29461981 |
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NCBI chr12:14,321,771...14,343,886
Ensembl chr12:14,321,771...14,343,857
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G
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Bglap
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bone gamma-carboxyglutamate protein
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ISO
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mRNA:increased expression:long bone
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RGD |
PMID:22573557 |
RGD:7207229 |
NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:176,136,341...176,137,318
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G
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Clcn5
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chloride voltage-gated channel 5
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ISO
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ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets
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ClinVar |
PMID:9734595 PMID:10469281 PMID:16822791 PMID:16861240 PMID:22876375 PMID:24081861 PMID:25741868 PMID:25907713 PMID:28492532 More...
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NCBI chr X:17,857,260...18,011,844
Ensembl chr X:17,857,260...18,011,844
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G
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Fam20c
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FAM20C, golgi associated secretory pathway kinase
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ISO
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mRNA:increased expression:long bone, osteoblast, osteocyte (mouse)
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RGD |
PMID:24710520 |
RGD:11560488 |
NCBI chr12:20,940,654...20,999,072
Ensembl chr12:20,940,654...20,998,318
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G
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Phex
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phosphate regulating endopeptidase X-linked
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ISO ISS
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ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: PHEX-related condition | ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked OMIM:307800 DNA:mutation:exon:p.K496X(mouse) DNA:deletions:3'UTR,promoter,exons: DNA:mutations:cds,splice junction: DNA:deletion,mutations:exon,splice junction:
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OMIM ClinVar MouseDO RGD |
PMID:188828 PMID:2589938 PMID:3394683 PMID:7550339 PMID:9097956 PMID:9106524 PMID:9199930 PMID:9536098 PMID:9768646 PMID:9768674 PMID:10439971 PMID:10737991 PMID:10874297 PMID:11004247 PMID:11468271 PMID:11502821 PMID:11502829 PMID:12414858 PMID:12727977 PMID:14564066 PMID:14564077 PMID:15057978 PMID:16055933 PMID:16199547 PMID:16303832 PMID:16636593 PMID:17576681 PMID:18162710 PMID:18252791 PMID:18625346 PMID:19219621 PMID:19513579 PMID:21050253 PMID:21553362 PMID:21902834 PMID:21994957 PMID:22101457 PMID:22261628 PMID:22319799 PMID:22527485 PMID:22577109 PMID:22695891 PMID:23079138 PMID:23466123 PMID:23813354 PMID:24033266 PMID:24078575 PMID:24102521 PMID:24684036 PMID:24756041 PMID:24836714 PMID:24857004 PMID:24926462 PMID:25042154 PMID:25525159 PMID:25741868 PMID:25839938 PMID:26040324 PMID:26051471 PMID:26377240 PMID:26402641 PMID:26467025 PMID:26543054 PMID:26894575 PMID:27840894 PMID:28383812 PMID:28492532 PMID:28506344 PMID:28981921 PMID:28982589 PMID:29393334 PMID:29460029 PMID:29505567 PMID:29644095 PMID:29707405 PMID:29858904 PMID:29901142 PMID:30298485 PMID:30298486 PMID:30607568 PMID:30682568 PMID:30920082 PMID:31102713 PMID:31216405 PMID:31910300 PMID:32252220 PMID:32253725 PMID:32257293 PMID:32329911 PMID:32619592 PMID:32772199 PMID:33639975 PMID:33666701 PMID:33852231 PMID:34006472 PMID:34011663 PMID:34141703 PMID:34434907 PMID:34633109 PMID:34806794 PMID:35654784 PMID:35738466 PMID:35842615 PMID:35896147 PMID:36060934 PMID:36482408 PMID:36530187 PMID:36672821 PMID:37059315 PMID:37454963 PMID:38442738 PMID:39512182 PMID:22573557 PMID:9063736 PMID:9106524 PMID:7550339 More...
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RGD:7207229, RGD:11556248, RGD:11556247, RGD:11556246 |
NCBI chr X:41,422,561...41,671,226
Ensembl chr X:41,426,101...41,671,226
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G
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Clcn5
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chloride voltage-gated channel 5
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ISO
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ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive
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OMIM ClinVar |
PMID:7915957 PMID:8559248 PMID:9187673 PMID:9328929 PMID:9734595 PMID:11136179 PMID:15086899 PMID:15719255 PMID:15895257 PMID:16199547 PMID:16822791 PMID:18038239 PMID:19019917 PMID:19076289 PMID:19546586 PMID:19546591 PMID:19657328 PMID:22083641 PMID:22876375 PMID:23566014 PMID:24081861 PMID:25741868 PMID:25907713 PMID:26822237 PMID:27117801 PMID:27625851 PMID:27889724 PMID:28492532 PMID:28580211 PMID:29758562 PMID:30773290 PMID:31672324 PMID:31674016 PMID:32683654 PMID:33532864 PMID:35738466 More...
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NCBI chr X:17,857,260...18,011,844
Ensembl chr X:17,857,260...18,011,844
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