RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: mineral metabolism disease
Accession: DOID:0050032
browse the term
Definition: An acquired metabolic disease that is characterized by abnormal mineral metabolism. (DO)
Synonyms: primary_id: RDO:9003951
xref: EFO:0009556
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Cp
ceruloplasmin
ISO ISS
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: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:28258281 PMID:28431603 PMID:28492532 PMID:29482220 PMID:30901137 PMID:32235485 PMID:33774058 PMID:34347207 More...
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Hps3
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
ISO
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar
PMID:18414213 PMID:24033266 PMID:28492532
NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
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Slc40a1
solute carrier family 40 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20655381
NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
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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: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...
RGD:11069491
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
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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:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:21270825 PMID:21937424 PMID:23602593 PMID:23881107 PMID:24033266 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26938784 PMID:27391121 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:29159939 PMID:29239743 PMID:29453417 PMID:30219631 PMID:31980526 PMID:32860008 PMID:33504652 PMID:34426522 PMID:35307828 PMID:35532072 More...
NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477
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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 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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Kat5
lysine acetyltransferase 5
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar
PMID:25741868
NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
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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:31130681 More...
NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041
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Rnaseh2b
ribonuclease H2, subunit B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD ClinVar
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:25604658 PMID:25614871 PMID:25741868 PMID:26182405 PMID:26467025 PMID:26846091 PMID:26903602 PMID:27009121 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:31920009 PMID:31980526 PMID:32258229 PMID:32404165 PMID:33258288 PMID:33967934 More...
NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
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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:23322642 PMID:25604658 PMID:25741868 PMID:28492532 PMID:29150899 PMID:29239743 PMID:31529068 PMID:34302356 More...
NCBI chr 1:202,894,626...202,895,675
Ensembl chr 1:202,894,643...202,897,516
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Samhd1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
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:22691373 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:36115319 More...
NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
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Tldc2
TBC/LysM-associated domain containing 2
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar
PMID:28492532
NCBI chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741
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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:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:21270825 PMID:21937424 PMID:23602593 PMID:23881107 PMID:24033266 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25906927 PMID:26182405 PMID:26467025 PMID:26938784 PMID:27391121 PMID:27943079 PMID:28089741 PMID:28492532 PMID:28750028 PMID:29159939 PMID:29239743 PMID:29453417 PMID:30219631 PMID:31980526 PMID:32860008 PMID:33504652 PMID:34426522 PMID:35307828 PMID:35532072 More...
NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
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Usp18
ubiquitin specific peptidase 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144
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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 8:108,741,899...108,743,425
Ensembl chr 8:108,693,060...108,744,555
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Amt
aminomethyltransferase
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126
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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 8:108,773,791...108,782,903
Ensembl chr 8:108,773,794...108,782,933
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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 8:109,296,738...109,355,909
Ensembl chr 8:109,296,738...109,355,852
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Atrip
ATR interacting protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
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:18805785 PMID:19344873 PMID:19875384 PMID:20131292 PMID:20799324 PMID:20871604 PMID:21270825 PMID:21808053 PMID:21937424 PMID:22367235 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:29159939 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29453956 PMID:30219631 PMID:31130681 PMID:31589614 PMID:31719132 PMID:31980526 PMID:32860008 PMID:33504652 PMID:33606975 PMID:33892200 PMID:34426522 PMID:34440436 PMID:34490615 PMID:34490982 PMID:35307828 PMID:35532072 PMID:35803721 PMID:35879334 More...
NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477
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Bsn
bassoon (presynaptic cytomatrix protein)
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,784,849...108,875,819
Ensembl chr 8:108,788,542...108,875,819
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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 8:109,080,032...109,084,588
Ensembl chr 8:109,036,030...109,097,895
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C8h3orf84
similar to human chromosome 3 open reading frame 84
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:109,131,138...109,140,784
Ensembl chr 8:109,124,762...109,140,791
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Camkv
CaM kinase-like vesicle-associated
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,626,821...108,641,169
Ensembl chr 8:108,626,821...108,641,169
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Ccdc71
coiled-coil domain containing 71
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:109,146,650...109,161,749
Ensembl chr 8:109,146,359...109,165,216
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Cdhr4
cadherin-related family member 4
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,682,594...108,690,358
Ensembl chr 8:108,682,613...108,690,367
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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 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354
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Col7a1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252
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Dag1
dystroglycan 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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Dalrd3
DALR anticodon binding domain containing 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:109,264,100...109,268,560
Ensembl chr 8:109,265,676...109,268,568
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Gmppb
GDP-mannose pyrophosphorylase B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,737,429...108,740,437
Ensembl chr 8:108,693,060...108,767,286
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Gnai2
G protein subunit alpha i2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
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Gnat1
G protein subunit alpha transducin 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
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Gpx1
glutathione peroxidase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Hyal1
hyaluronidase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,250,668...108,254,519
Ensembl chr 8:108,250,667...108,260,210
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Hyal3
hyaluronidase 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,254,385...108,260,020
Ensembl chr 8:108,250,667...108,260,647
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Ifrd2
interferon-related developmental regulator 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,260,969...108,266,191
Ensembl chr 8:108,260,969...108,266,194
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Iho1
interactor of HORMAD1 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:109,091,134...109,126,386
Ensembl chr 8:109,092,758...109,125,434
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Impdh2
inosine monophosphate dehydrogenase 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:109,256,705...109,261,365
Ensembl chr 8:109,256,728...109,261,359
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Inka1
inka box actin regulator 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,674,263...108,675,953
Ensembl chr 8:108,674,263...108,675,953
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Ip6k1
inositol hexakisphosphate kinase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,693,068...108,737,278
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Ip6k2
inositol hexakisphosphate kinase 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166
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Klhdc8b
kelch domain containing 8B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918
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Lamb2
laminin subunit beta 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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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 8:108,265,855...108,270,656
Ensembl chr 8:108,266,345...108,279,115
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Mir191
microRNA 191
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:109,264,098...109,264,188
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Mon1a
MON1 homolog A, secretory trafficking associated
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,574,272...108,593,163
Ensembl chr 8:108,574,388...108,593,156
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Mst1
macrophage stimulating 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,767,886...108,773,425
Ensembl chr 8:108,768,839...108,773,416
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Mst1r
macrophage stimulating 1 receptor
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455
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Naa80
N(alpha)-acetyltransferase 80, NatH catalytic subunit
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,254,314...108,257,564
Ensembl chr 8:108,253,302...108,257,563
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Nckipsd
NCK interacting protein with SH3 domain
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:109,511,484...109,522,622
Ensembl chr 8:109,511,658...109,522,246
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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 8:109,261,362...109,263,194
Ensembl chr 8:109,261,363...109,263,194
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Nicn1
nicolin 1, tubulin polyglutamylase complex subunit
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067
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P4htm
prolyl 4-hydroxylase, transmembrane
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:109,274,629...109,292,802
Ensembl chr 8:109,274,626...109,292,473
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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 8:109,643,558...109,687,006
Ensembl chr 8:109,643,937...109,685,634
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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 8:109,393,189...109,458,832
Ensembl chr 8:109,395,833...109,455,628
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Qars1
glutaminyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
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Qrich1
glutamine-rich 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:109,216,900...109,256,472
Ensembl chr 8:109,217,376...109,261,359
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Rbm5
RNA binding motif protein 5
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,420,220...108,449,481
Ensembl chr 8:108,420,222...108,449,430
G
Rbm6
RNA binding motif protein 6
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,452,687...108,552,783
Ensembl chr 8:108,452,687...108,552,771
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Rhoa
ras homolog family member A
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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Rnaseh2b
ribonuclease H2, subunit B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:25741868
NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
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Rnf123
ring finger protein 123
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,740,176...108,768,177
Ensembl chr 8:108,739,620...108,767,675
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Sema3b
semaphorin 3B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919
G
Sema3f
semaphorin 3F
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,357,629...108,386,569
Ensembl chr 8:108,357,629...108,387,083
G
Shisa5
shisa family member 5
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:109,691,504...109,706,411
Ensembl chr 8:109,691,522...109,706,408
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 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512
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 8:109,558,968...109,569,778
Ensembl chr 8:109,559,642...109,569,778
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Slc38a3
solute carrier family 38, member 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988
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Tcta
T-cell leukemia translocation altered
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564
G
Tmem89
transmembrane protein 89
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:109,571,377...109,572,271
Ensembl chr 8:109,571,377...109,572,271
G
Traip
TRAF-interacting protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:108,641,860...108,661,640
Ensembl chr 8:108,641,852...108,661,638
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Trex1
three prime repair exonuclease 1
susceptibility
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
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:18805785 PMID:19344873 PMID:19875384 PMID:20131292 PMID:20799324 PMID:20871604 PMID:21270825 PMID:21808053 PMID:21937424 PMID:22367235 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:29159939 PMID:29239743 PMID:29387804 PMID:29453417 PMID:29453956 PMID:30219631 PMID:31130681 PMID:31589614 PMID:31719132 PMID:31980526 PMID:32860008 PMID:33504652 PMID:33606975 PMID:33892200 PMID:34426522 PMID:34440436 PMID:34490615 PMID:34490982 PMID:35307828 PMID:35532072 PMID:35803721 PMID:35879334 More...
NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
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 8:108,665,289...108,674,097
Ensembl chr 8:108,665,292...108,674,099
G
Ucn2
urocortin 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:109,637,624...109,639,173
Ensembl chr 8:109,638,285...109,639,172
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 8:109,589,735...109,601,481
Ensembl chr 8:109,589,706...109,601,480
G
Usp19
ubiquitin specific peptidase 19
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:109,190,727...109,201,761
Ensembl chr 8:109,190,724...109,201,741
G
Usp4
ubiquitin specific peptidase 4
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:109,035,402...109,079,382
Ensembl chr 8:109,036,099...109,080,427
G
Wdr6
WD repeat domain 6
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1
ClinVar
PMID:16845398 PMID:28492532
NCBI chr 8:109,268,079...109,274,504
Ensembl chr 8:109,268,079...109,274,499
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: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:26182405 PMID:26467025 PMID:26633542 PMID:26846091 PMID:26860721 PMID:26903602 PMID:27009121 PMID:27943079 PMID:28332073 PMID:28492532 PMID:28762473 PMID:29030706 PMID:29239743 PMID:29691679 PMID:30111349 PMID:30223285 PMID:30609409 PMID:30826161 PMID:30889214 PMID:31130284 PMID:31130681 PMID:31367981 PMID:31529068 PMID:31920009 PMID:31980526 PMID:32258229 PMID:32404165 PMID:32488064 PMID:33084218 PMID:33258288 PMID:33307271 PMID:33482855 PMID:33967934 PMID:33981319 More...
NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
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Actn3
actinin alpha 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,159,081...202,175,012
Ensembl chr 1:202,159,082...202,175,012
G
Acy3
aminoacylase 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,279,751...201,285,803
Ensembl chr 1:201,279,851...201,283,175
G
Aip
aryl-hydrocarbon receptor-interacting protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122
G
Aldh3b1
aldehyde dehydrogenase 3 family, member B1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,145,309...201,162,675
Ensembl chr 1:201,145,309...201,163,921
G
Aldh3b2
aldehyde dehydrogenase 3 family, member B2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,250,260...201,264,699
Ensembl chr 1:201,253,157...201,264,705
G
Aldh3b3
aldehyde dehydrogenase 3 family, member B3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,193,832...201,201,666
Ensembl chr 1:201,187,962...201,250,204
G
Ankrd13d
ankyrin repeat domain 13D
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,565,712...201,577,987
Ensembl chr 1:201,565,712...201,577,933
G
Ano1
anoctamin 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:199,751,439...199,900,099
Ensembl chr 1:199,751,439...199,900,069
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 1:202,876,272...202,880,303
Ensembl chr 1:202,876,272...202,880,289
G
B4gat1
beta-1,4-glucuronyltransferase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065
G
Banf1
BAF nuclear assembly factor 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,672,170...202,674,215
Ensembl chr 1:202,671,305...202,674,188
G
Bbs1
Bardet-Biedl syndrome 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086
G
Bles03
basophilic leukemia expressed protein BLES03
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,734,555...202,736,809
Ensembl chr 1:202,734,555...202,736,804
G
Brms1
BRMS1, transcriptional repressor and anoikis regulator
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,345,766...202,355,028
Ensembl chr 1:202,345,704...202,355,028
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 1:200,945,188...200,953,953
Ensembl chr 1:200,945,180...200,962,585
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 1:201,784,009...201,785,916
Ensembl chr 1:201,784,009...201,785,916
G
Cabp2
calcium binding protein 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,374,649...201,380,469
Ensembl chr 1:201,375,276...201,380,469
G
Cabp4
calcium binding protein 4
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
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Capn1
calpain 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177
G
Carns1
carnosine synthase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,459,061...201,470,019
Ensembl chr 1:201,459,076...201,469,845
G
Catsper1
cation channel, sperm associated 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,643,009...202,652,059
Ensembl chr 1:202,643,038...202,651,824
G
Ccdc85b
coiled-coil domain containing 85B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,763,645...202,764,660
Ensembl chr 1:202,763,631...202,764,703
G
Ccdc87
coiled-coil domain containing 87
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,135,021...202,137,717
Ensembl chr 1:202,134,963...202,138,337
G
Ccnd1
cyclin D1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
G
Ccs
copper chaperone for superoxide dismutase
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,113,792...202,134,931
Ensembl chr 1:202,113,804...202,134,915
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Cd248
CD248 molecule
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,373,676...202,376,240
Ensembl chr 1:202,373,676...202,376,240
G
Cdc42ep2
CDC42 effector protein 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:203,202,000...203,210,891
Ensembl chr 1:203,201,873...203,210,897
G
Cdk2ap2
cyclin-dependent kinase 2 associated protein 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,391,056...201,393,137
Ensembl chr 1:201,391,466...201,393,137
G
Cfl1
cofilin 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
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Chka
choline kinase alpha
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,076,804...201,125,517
Ensembl chr 1:201,076,860...201,125,516
G
Clcf1
cardiotrophin-like cytokine factor 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605
G
Cnih2
cornichon family AMPA receptor auxiliary protein 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,399,416...202,405,110
Ensembl chr 1:202,399,419...202,405,089
G
Coro1b
coronin 1B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,442,977...201,448,416
Ensembl chr 1:201,443,014...201,448,416
G
Cpt1a
carnitine palmitoyltransferase 1A
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055
G
Cst6
cystatin E/M
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030
G
Ctsf
cathepsin F
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,152,777...202,158,525
Ensembl chr 1:202,152,728...202,158,525
G
Ctsw
cathepsin W
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,772,395...202,777,021
Ensembl chr 1:202,772,572...202,775,964
G
Dpf2
double PHD fingers 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
G
Dpp3
dipeptidylpeptidase 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,204,683...202,228,501
Ensembl chr 1:202,204,693...202,228,541
G
Drap1
Dr1 associated protein 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,731,775...202,734,468
Ensembl chr 1:202,731,788...202,734,425
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 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
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 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270
G
Eif1ad
eukaryotic translation initiation factor 1A domain containing
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,674,362...202,679,662
Ensembl chr 1:202,674,185...202,679,658
G
Fadd
Fas associated via death domain
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
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 1:203,015,772...203,017,890
Ensembl chr 1:203,015,773...203,017,367
G
Fgf19
fibroblast growth factor 19
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:200,056,526...200,060,980
Ensembl chr 1:200,056,644...200,060,287
G
Fgf3
fibroblast growth factor 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:200,001,162...200,005,539
Ensembl chr 1:200,001,261...200,005,187
G
Fgf4
fibroblast growth factor 4
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:200,023,937...200,027,793
Ensembl chr 1:200,024,056...200,025,466
G
Fibp
FGF1 intracellular binding protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399
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 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930
G
Frmd8
FERM domain containing 8
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:203,143,216...203,163,868
Ensembl chr 1:203,143,218...203,163,870
G
Gal
galanin and GMAP prepropeptide
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:200,650,439...200,655,302
Ensembl chr 1:200,650,439...200,654,959
G
Gal3st3
galactose-3-O-sulfotransferase 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,593,635...202,603,446
Ensembl chr 1:202,593,692...202,603,445
G
Gpr152
G protein-coupled receptor 152
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,435,878...201,438,373
Ensembl chr 1:201,435,884...201,437,443
G
Grk2
G protein-coupled receptor kinase 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
G
Gstp1
glutathione S-transferase pi 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
G
Ighmbp2
immunoglobulin mu DNA binding protein 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
G
Kat5
lysine acetyltransferase 5
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:25741868 PMID:28492532 PMID:28600438
NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
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 1:202,988,801...202,992,842
Ensembl chr 1:202,990,198...202,992,872
G
Kdm2a
lysine demethylase 2A
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,612,427...201,682,359
Ensembl chr 1:201,612,453...201,680,787
G
Klc2
kinesin light chain 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672
G
Kmt5b
lysine methyltransferase 5B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,000,444...201,049,819
Ensembl chr 1:201,000,444...201,049,819
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 1:201,888,569...201,891,861
Ensembl chr 1:201,888,569...201,891,861
G
Lrp5
LDL receptor related protein 5
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
G
Lto1
LTO1 maturation factor of ABCE1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:200,074,247...200,080,951
Ensembl chr 1:200,074,253...200,088,061
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 1:202,975,353...202,988,655
Ensembl chr 1:202,975,353...202,988,652
G
Mrgprd
MAS related GPR family member D
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:200,479,204...200,487,902
Ensembl chr 1:200,485,189...200,486,148
G
Mrgprf
MAS related GPR family member F
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:200,464,100...200,473,588
Ensembl chr 1:200,463,973...200,473,660
G
mrpl11
mitochondrial ribosomal protein L11
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,264,419...202,267,288
Ensembl chr 1:202,264,471...202,267,756
G
Mrpl21
mitochondrial ribosomal protein L21
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:200,529,416...200,542,568
Ensembl chr 1:200,529,416...200,537,896
G
Mus81
MUS81 structure-specific endonuclease subunit
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843
G
Ndufs8
NADH:ubiquinone oxidoreductase core subunit S8
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,140,585...201,144,573
Ensembl chr 1:201,140,585...201,144,511
G
Ndufv1
NADH:ubiquinone oxidoreductase core subunit V1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,300,365...201,305,461
Ensembl chr 1:201,299,985...201,305,466
G
Npas4
neuronal PAS domain protein 4
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,281,260...202,298,681
Ensembl chr 1:202,281,958...202,286,724
G
Nudt8
nudix hydrolase 8
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,293,660...201,295,233
Ensembl chr 1:201,292,619...201,295,224
G
Ovol1
ovo like transcriptional repressor 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:202,855,261...202,868,858
Ensembl chr 1:202,855,265...202,866,831
G
Pacs1
phosphofurin acidic cluster sorting protein 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473
G
Pc
pyruvate carboxylase
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380
G
Pcnx3
pecanex 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:202,951,322...202,974,167
Ensembl chr 1:202,951,322...202,976,561
G
Peli3
pellino E3 ubiquitin protein ligase family member 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,230,034...202,242,900
Ensembl chr 1:202,232,228...202,242,857
G
Pitpnm1
phosphatidylinositol transfer protein, membrane-associated 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,394,099...201,407,523
Ensembl chr 1:201,394,149...201,407,522
G
Pola2
DNA polymerase alpha 2, accessory subunit
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:203,227,183...203,251,350
Ensembl chr 1:203,203,388...203,251,348
G
Pold4
DNA polymerase delta 4, accessory subunit
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,526,591...201,528,406
Ensembl chr 1:201,526,665...201,528,401
G
Ppp1ca
protein phosphatase 1 catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,485,117...201,488,734
Ensembl chr 1:201,485,085...201,497,327
G
Ppp6r3
protein phosphatase 6, regulatory subunit 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:200,693,128...200,807,578
Ensembl chr 1:200,693,440...200,807,548
G
Ptprcap
protein tyrosine phosphatase, receptor type, C-associated protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,449,133...201,451,293
Ensembl chr 1:201,449,113...201,451,288
G
Rab1b
RAB1B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,405,759...202,413,850
Ensembl chr 1:202,405,759...202,413,868 Ensembl chr X:202,405,759...202,413,868
G
Rad9a
RAD9 checkpoint clamp component A
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,488,511...201,553,582
Ensembl chr 1:201,487,136...201,553,608
G
Rbm14
RNA binding motif protein 14
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,076,940...202,105,688
Ensembl chr 1:202,078,287...202,105,665
G
Rbm4
RNA binding motif protein 4
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,078,442...202,087,506
Ensembl chr 1:202,085,279...202,105,380
G
Rbm4b
RNA binding motif protein 4B
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,047,934...202,058,025
Ensembl chr 1:202,047,927...202,058,020
G
Rce1
Ras converting CAAX endopeptidase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,899,358...201,902,593
Ensembl chr 1:201,899,358...201,902,484
G
Rela
RELA proto-oncogene, NF-kB subunit
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
G
Rhod
ras homolog family member D
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,708,699...201,724,405
Ensembl chr 1:201,708,699...201,722,632
G
Rin1
Ras and Rab interactor 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,355,729...202,362,731
Ensembl chr 1:202,355,890...202,362,729
G
Rnaseh2c
ribonuclease H2, subunit C
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 PMID:19034401 PMID:20131292 PMID:23322642 PMID:25500883 PMID:25604658 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28600438 PMID:29150899 PMID:29239743 PMID:29389947 PMID:30315573 PMID:31130681 PMID:31529068 PMID:32404165 PMID:34008892 PMID:34055681 PMID:34302356 PMID:36585007 PMID:37092250 More...
NCBI chr 1:202,894,626...202,895,675
Ensembl chr 1:202,894,643...202,897,516
G
Rps6kb2
ribosomal protein S6 kinase B2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,451,265...201,458,096
Ensembl chr 1:201,451,265...201,458,078
G
Sart1
spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,690,472...202,699,136
Ensembl chr 1:202,690,459...202,699,136
G
Scyl1
SCY1 like pseudokinase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533
G
Sf3b2
splicing factor 3b, subunit 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
G
Sipa1
signal-induced proliferation-associated 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591
G
Slc25a45
solute carrier family 25, member 45
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:203,166,362...203,174,473
Ensembl chr 1:203,166,683...203,174,473
G
Slc29a2
solute carrier family 29 member 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,327,641...202,335,185
Ensembl chr 1:202,327,354...202,335,171
G
Snx32
sorting nexin 32
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:202,801,090...202,818,731
Ensembl chr 1:202,802,394...202,818,743
G
Sptbn2
spectrin, beta, non-erythrocytic 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,002,970...202,045,343
Ensembl chr 1:202,002,970...202,044,283
G
Ssh3
slingshot protein phosphatase 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,557,167...201,565,577
Ensembl chr 1:201,557,169...201,564,753
G
Syt12
synaptotagmin 12
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,729,307...201,760,192
Ensembl chr 1:201,730,371...201,759,609
G
Tbc1d10c
TBC1 domain family, member 10C
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,476,258...201,484,876
Ensembl chr 1:201,477,157...201,564,920
G
Tbx10
T-box transcription factor 10
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,285,729...201,292,676
Ensembl chr 1:201,279,829...201,292,601
G
Tcirg1
T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742
G
Tesmin
testis expressed metallothionein like protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:200,629,688...200,648,434
Ensembl chr 1:200,630,144...200,648,433
G
Tigd3
tigger transposable element derived 3
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:203,178,456...203,182,775
Ensembl chr 1:203,178,460...203,181,272
G
Tmem134
transmembrane protein 134
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,419,225...201,424,778
Ensembl chr 1:201,419,264...201,431,411
G
Tmem151a
transmembrane protein 151A
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,387,397...202,392,182
Ensembl chr 1:202,388,240...202,392,182
G
Top6bl
TOP6B like initiator of meiotic double strand breaks
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,902,564...201,989,945
G
Tpcn2
two pore segment channel 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:200,416,538...200,446,252
Ensembl chr 1:200,416,540...200,446,236
G
Tsga10ip
testis specific 10 interacting protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,700,576...202,714,668
Ensembl chr 1:202,700,578...202,714,798
G
Unc93b1
unc-93 homolog B1, TLR signaling regulator
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:201,167,388...201,178,343
Ensembl chr 1:201,152,693...201,178,338
G
Yif1a
Yip1 interacting factor homolog A, membrane trafficking protein
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,394,923...202,399,125
Ensembl chr 1:202,394,897...202,399,427
G
Zdhhc24
zinc finger, DHHC-type containing 24
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532
NCBI chr 1:202,175,832...202,181,943
Ensembl chr 1:202,175,807...202,182,880
G
Znrd2
zinc ribbon domain containing 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar
PMID:28492532 PMID:28600438
NCBI chr 1:203,017,682...203,019,465
Ensembl chr 1:203,017,682...203,019,465
G
Dnase2
deoxyribonuclease 2, lysosomal
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:28492532
NCBI chr19:23,244,656...23,247,376
Ensembl chr19:23,244,664...23,247,376
G
Gcdh
glutaryl-CoA dehydrogenase
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:28492532
NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
G
Klf1
KLF transcription factor 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:28492532
NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
G
MAST1
microtubule associated serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:28492532
NCBI chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235
G
Rnaseh2a
ribonuclease H2, subunit A
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:15870678 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 PMID:24033266 PMID:24183309 PMID:24300241 PMID:25274781 PMID:25500883 PMID:25604658 PMID:25741868 PMID:26182405 PMID:26467025 PMID:27943079 PMID:28492532 PMID:28600779 PMID:29239743 PMID:31130284 PMID:31130681 PMID:31529068 PMID:37626525 More...
NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041
G
Rtbdn
retbindin
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:28492532
NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438
G
Syce2
synaptonemal complex central element protein 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar
PMID:28492532
NCBI chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980
G
Blcap
BLCAP, apoptosis inducing factor
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr 3:146,222,699...146,232,859
Ensembl chr 3:146,222,240...146,232,909
G
Ctnnbl1
catenin, beta like 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr 3:146,387,940...146,548,987
Ensembl chr 3:146,387,889...146,548,987
G
Ghrh
growth hormone releasing hormone
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889
G
Manbal
mannosidase beta like
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr 3:146,035,082...146,064,676
Ensembl chr 3:146,035,066...146,064,676
G
Mroh8
maestro heat-like repeat family member 8
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr 3:145,873,995...145,942,439
Ensembl chr 3:145,873,996...145,942,319
G
Nnat
neuronatin
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr 3:146,225,941...146,228,868
Ensembl chr 3:146,226,407...146,228,834
G
Rbl1
RB transcriptional corepressor like 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr 3:145,806,160...145,869,434
Ensembl chr 3:145,807,095...145,869,330
G
Rpn2
ribophorin II
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr 3:145,941,787...145,989,271
Ensembl chr 3:145,941,839...145,989,543
G
Samhd1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 CTD Direct Evidence: marker/mechanism
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:22691373 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: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:34492268 PMID:35590234 More...
NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
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Src
SRC proto-oncogene, non-receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
G
Tldc2
TBC/LysM-associated domain containing 2
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741
G
Adar
adenosine deaminase, RNA-specific
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6
OMIM ClinVar
PMID:9536098 PMID:9889202 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:32593192 PMID:32801363 PMID:32996714 PMID:33289110 PMID:33307271 PMID:33723056 PMID:34343497 PMID:34702576 PMID:35859177 More...
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
G
Ifih1
interferon induced with helicase C domain 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7
OMIM ClinVar
PMID:16199547 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 PMID:25620204 PMID:25741868 PMID:26284909 PMID:26833990 PMID:28319323 PMID:28475458 PMID:28492532 PMID:28605144 PMID:28716935 PMID:29782060 PMID:30219631 PMID:30593198 PMID:30965144 PMID:31178897 PMID:31898846 PMID:34185153 PMID:34539730 PMID:35754802 More...
NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
G
Lsm11
LSM11, U7 small nuclear RNA associated
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8
OMIM ClinVar
PMID:33230297
NCBI chr10:30,367,841...30,385,956
Ensembl chr10:30,370,727...30,385,944
G
Grcc10
gene rich cluster, C10 gene
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9
ClinVar
PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297
NCBI chr 4:157,551,276...157,552,924
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
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:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:12727968 PMID:12970318 PMID:15126527 PMID:15711092 PMID:15952988 PMID:16507630 PMID:18553568 PMID:18796523 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:24982418 PMID:25044890 PMID:25157968 PMID:25219572 PMID:25719192 PMID:25741868 PMID:25802881 PMID:26341786 PMID:26574629 PMID:26619011 PMID:26633545 PMID:27398169 PMID:27506760 PMID:27703483 PMID:28492532 PMID:28708303 PMID:29059381 PMID:29072892 PMID:29095814 PMID:29379892 PMID:29628140 PMID:29970488 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:11095461 PMID:11600516 More...
RGD:11568049 , RGD:11568047
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
G
Pthlh
parathyroid hormone-like hormone
ISS
OMIM:103580
MouseDO
NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
G
Fam20a
FAM20A, golgi associated secretory pathway pseudokinase
ISO
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunction CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 PMID:28086997 PMID:28492532 PMID:32246227 More...
NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672
G
Prkar1a
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
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...
NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
G
Ager
advanced glycosylation end product-specific receptor
IEP
associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat)
RGD
PMID:23497312
RGD:7244260
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
G
Agt
angiotensinogen
IDA
RGD
PMID:23291307
RGD:8549476
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
G
Atp5f1d
ATP synthase F1 subunit delta
treatment
IEP
associated with Hypercholesterolemia
RGD
PMID:26047104
RGD:11057945
NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929
G
Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
RGD
PMID:15625282
RGD:13204716
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
G
Grp
gastrin releasing peptide
treatment
ISO
associated with chronic kidney disease
RGD
PMID:32192106
RGD:329961569
NCBI chr18:59,388,679...59,402,061
Ensembl chr18:59,388,274...59,402,061
G
Gsn
gelsolin
disease_progression
ISO
protein:decreased expression:blood (human)
RGD
PMID:26941566
RGD:329336117
NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
G
Sod1
superoxide dismutase 1
IEP
associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta
RGD
PMID:25430697
RGD:11038653
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
G
Sod2
superoxide dismutase 2
IEP
associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta
RGD
PMID:25430697
RGD:11038653
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
G
Vkorc1
vitamin K epoxide reductase complex, subunit 1
susceptibility
IAGP
DNA:missense mutation: :p.Y139C (416A>G) (rat)
RGD
PMID:19884975
RGD:2315841
NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008
G
Col5a1
collagen type V alpha 1 chain
ISO
ClinVar Annotator: match by term: Aortic valve disease 1
ClinVar
PMID:25741868 PMID:28074886 PMID:28492532 PMID:30858776 PMID:31903434
NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
G
Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
IEP
mRNA:increased expression:aorta (rat)
RGD
PMID:22659116
RGD:12914785
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
G
Gata5
GATA binding protein 5
ISO
ClinVar Annotator: match by term: Aortic valve disease 1
ClinVar
PMID:28387797 PMID:28492532 PMID:30675029
NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
G
Il6
interleukin 6
severity
ISO
RGD
PMID:23969418
RGD:12792206
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Notch1
notch receptor 1
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 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:9536098 PMID:15472075 PMID:16025100 PMID:16614245 PMID:16729972 PMID:17576681 PMID:17662764 PMID:18593716 PMID:19245433 PMID:19635999 PMID:20007775 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:24113472 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:26188975 PMID:26580448 PMID:26699486 PMID:26708639 PMID:26820064 PMID:26837699 PMID:26893459 PMID:27283355 PMID:27760138 PMID:27854218 PMID:27989580 PMID:27993330 PMID:28074886 PMID:28387797 PMID:28492532 PMID:28963436 PMID:28991257 PMID:29641532 PMID:29907982 PMID:29924900 PMID:30059548 PMID:30255099 PMID:30511478 PMID:30582441 PMID:30609409 PMID:30675029 PMID:31624253 PMID:31633846 PMID:31654484 PMID:31866570 PMID:32748548 PMID:33064175 PMID:33110418 PMID:33208564 PMID:33726816 PMID:33914609 PMID:33994118 PMID:34328347 PMID:34498425 PMID:35101336 PMID:35288444 PMID:36140728 PMID:36973604 PMID:16025100 More...
RGD:1580758
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
G
Smad6
SMAD family member 6
ISO
ClinVar Annotator: match by term: Aortic valve disease 1
ClinVar
PMID:28492532 PMID:30796334
NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
G
Tbx20
T-box transcription factor 20
ISO
ClinVar Annotator: match by term: Aortic valve disease 1
ClinVar
PMID:19762328 PMID:25741868 PMID:27510170 PMID:27642787 PMID:28553164 PMID:30820038 More...
NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175
G
Abcc6
ATP binding cassette subfamily C member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25758222
NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
G
Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO ISS
DNA:missense mutations:cds:p.G342V, p.Y371F (human) 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)
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:20016754 PMID:20137773 PMID:20981035 PMID:22539483 PMID:24033266 PMID:25741868 PMID:27238374 PMID:27467858 PMID:28377967 PMID:28492532 PMID:28973083 PMID:29244957 PMID:29979387 PMID:33005041 PMID:34609116 PMID:35738466 PMID:15940697 PMID:23798568 PMID:20016754 PMID:12881724 More...
RGD:1601044 , RGD:13204734 , RGD:6906932 , RGD:731203
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
G
Amelx
amelogenin, X-linked
IEP
RGD
PMID:15721149
RGD:1599092
NCBI chr X:25,076,362...25,087,660
Ensembl chr X:25,076,362...25,087,660
G
Bglap
bone gamma-carboxyglutamate protein
IEP
RGD
PMID:2106357
RGD:6483581
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
G
Casr
calcium-sensing receptor
ISO
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)
ClinVar RGD
PMID:8878438 PMID:9039332 PMID:11136551 PMID:11701698 PMID:12067826 PMID:12574188 PMID:12733714 PMID:14519094 PMID:17039419 PMID:19179454 PMID:20119591 PMID:20668040 PMID:21645025 PMID:22422767 PMID:22789683 PMID:24133354 PMID:24297799 PMID:24823460 PMID:24948345 PMID:25137426 PMID:25420019 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29846619 PMID:30470382 PMID:30496603 PMID:34913197 PMID:7874174 PMID:20501971 PMID:15347804 PMID:8813042 More...
RGD:1598940 , RGD:7205656 , RGD:7205497 , RGD:7204717
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
G
Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
RGD
PMID:11416220
RGD:734871
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
G
Pth
parathyroid hormone
IEP
protein:increased expression:serum (rat)
RGD
PMID:22581996
RGD:7242904
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
G
Casr
calcium-sensing receptor
ISS ISO
OMIM:601198 ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 | ClinVar Annotator: match by term: HYPOCALCEMIA, FAMILIAL
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:10971459 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:23186954 PMID:23372019 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24244430 PMID:24297799 PMID:24517148 PMID:24823460 PMID:24854525 PMID:24947037 PMID:24948345 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:30407919 PMID:30470382 PMID:30496603 PMID:30895164 PMID:31189130 PMID:31433865 PMID:31433868 PMID:31672324 PMID:31763346 PMID:31883284 PMID:32347971 PMID:32386559 PMID:33112267 PMID:34008892 PMID:34913197 PMID:35242665 PMID:35300448 PMID:35402765 PMID:35818129 PMID:36090548 PMID:37654565 More...
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
G
Gna11
G protein subunit alpha 11
ISO ISS
OMIM:615361 ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 2
OMIM MouseDO ClinVar
PMID:6278146 PMID:23802516 PMID:23802536 PMID:24823460 PMID:25741868 PMID:26994139 PMID:28194446 PMID:28492532 More...
NCBI chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812
G
Casr
calcium-sensing receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
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 More...
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
G
Fgf23
fibroblast growth factor 23
ISO ISS
DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human) OMIM:193100 CTD Direct Evidence: marker/mechanism 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 DNA:missense mutation:cds:526C>T,p.R176W (human)
MouseDO CTD ClinVar 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:15836777 PMID:15885032 PMID:16436388 PMID:17227222 PMID:17452648 PMID:17623664 PMID:17992255 PMID:18682534 PMID:18982401 PMID:21880793 PMID:22419710 PMID:24033266 PMID:25445451 PMID:25741868 PMID:26186302 PMID:26467025 PMID:28492532 PMID:31486862 PMID:32415663 PMID:35738466 PMID:11062477 PMID:19655082 More...
RGD:1598933 , RGD:10044239
NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821
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Phex
phosphate regulating endopeptidase X-linked
ISO
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets
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...
NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469
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Dmp1
dentin matrix acidic phosphoprotein 1
ISO ISS
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive OMIM:241520 | OMIM:613312
ClinVar MouseDO
NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
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...
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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Pdgfrb
platelet derived growth factor receptor beta
ISS
OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483
MouseDO
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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Slc20a2
solute carrier family 20 member 2
ISS
OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483
MouseDO
NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711
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Akt1
AKT serine/threonine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23308213
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Cd40lg
CD40 ligand
treatment
IDA
RGD
PMID:24374105
RGD:11352276
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Dll4
delta like canonical Notch ligand 4
ameliorates
ISO
RGD
PMID:22699504
RGD:155641244
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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Hspd1
heat shock protein family D (Hsp60) member 1
severity
ISO
RGD
PMID:15120829
RGD:12910476
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Meis2
Meis homeobox 2
ISO
mRNA,protein:decreased expression:aortic valve:
RGD
PMID:30594396
RGD:155598679
NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696
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Notch1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16025100
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Ptgs2
prostaglandin-endoperoxide synthase 2
disease_progression
ISO
protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells
RGD
PMID:25722432 PMID:25722432
RGD:13207434 , RGD:13207434
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Pth
parathyroid hormone
disease_progression
IEP
protein:increased expression:serum (rat)
RGD
PMID:22634235
RGD:7242900
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Ptpn1
protein tyrosine phosphatase, non-receptor type 1
ISO
protein:increased expression:aortic valve (human)
RGD
PMID:35958694
RGD:401976381
NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504
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Slc20a1
solute carrier family 20 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23308213
NCBI chr 3:116,427,095...116,441,049
Ensembl chr 3:116,427,098...116,441,051
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29358327
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Ahsg
alpha-2-HS-glycoprotein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16177000
NCBI chr11:78,121,388...78,127,998
Ensembl chr11:78,117,918...78,145,999
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Alpl
alkaline phosphatase, biomineralization associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21193197
NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
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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 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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Bmp2
bone morphogenetic protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30963258 PMID:31843813
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
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Bmp4
bone morphogenetic protein 4
ISO
protein:increased expression:dermis:
RGD
PMID:18422975
RGD:9068449
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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C6
complement C6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr 2:53,846,028...53,921,279
Ensembl chr 2:53,851,985...53,921,275
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Casp3
caspase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21193197 PMID:21335463
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl9
C-C motif chemokine ligand 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr10:68,366,486...68,371,408
Ensembl chr10:68,366,487...68,371,369
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Col18a1
collagen type XVIII alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
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Col1a1
collagen type I alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Ctc1
CST telomere replication complex component 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22267198
NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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Ctnnb1
catenin beta 1
ISO
protein:increased expression:dermis:
RGD
PMID:18422975
RGD:9068449
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Dmd
dystrophin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18340010
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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Epo
erythropoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12148126
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
associated with Breast Neoplasms;protein:increased expression:breast
RGD
PMID:18256879
RGD:2289923
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Fcgr1a
Fc gamma receptor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994
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Fgf23
fibroblast growth factor 23
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821
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Galnt3
polypeptide N-acetylgalactosaminyltransferase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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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 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Il18
interleukin 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Itgb1
integrin subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18340010
NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195
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Itgb2
integrin subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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Jak2
Janus kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Kl
Klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Lcn2
lipocalin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Lsp1
lymphocyte-specific protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr 1:197,614,677...197,648,414
Ensembl chr 1:197,614,687...197,648,416
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Ly86
lymphocyte antigen 86
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr17:27,415,807...27,499,695
Ensembl chr17:27,415,830...27,487,260
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Mgp
matrix Gla protein
ISO
RGD
PMID:15045141
RGD:1582501
NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
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Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15545515 PMID:21193197
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15545515 PMID:21193197
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Notch1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22110751
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Nr1i2
nuclear receptor subfamily 1, group I, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30963258
NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658
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Pdgfb
platelet derived growth factor subunit B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25938945
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Pdgfrb
platelet derived growth factor receptor beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25938945
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6143199
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Ptpn6
protein tyrosine phosphatase, non-receptor type 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
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Pycard
PYD and CARD domain containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955
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Ripk3
receptor-interacting serine-threonine kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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Slc20a2
solute carrier family 20 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25938945
NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711
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Slc22a6
solute carrier family 22 member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12803500
NCBI chr 1:205,522,579...205,531,179
Ensembl chr 1:205,522,729...205,531,173
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Snai2
snail family transcriptional repressor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29358327
NCBI chr11:86,182,788...86,186,203
Ensembl chr11:86,181,909...86,186,200
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Sparc
secreted protein acidic and cysteine rich
ISO
protein:increased expression:dermis:
RGD
PMID:18422975
RGD:9068449
NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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Spn
sialophorin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr 1:181,746,937...181,759,564
Ensembl chr 1:181,746,429...181,759,628
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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 chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24142982
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Timp1
TIMP metallopeptidase inhibitor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Timp2
TIMP metallopeptidase inhibitor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24142982
NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30963258
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29358327
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Xpr1
xenotropic and polytropic retrovirus receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25938945
NCBI chr13:67,441,205...67,585,950
Ensembl chr13:67,446,380...67,585,946
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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...
NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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Stn1
STN1 subunit of CST complex
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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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:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 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:34573280 PMID:34706368 More...
NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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Pfas
phosphoribosylformylglycinamidine synthase
ISO
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 chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
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Stn1
STN1 subunit of CST complex
ISO
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2
OMIM ClinVar
PMID:25741868 PMID:27432940 PMID:28492532
NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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Pot1
protection of telomeres 1
ISO
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3
ClinVar OMIM
PMID:27013236 PMID:28492532
NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cole disease | ClinVar Annotator: match by term: GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION
CTD OMIM ClinVar
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: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:28377967 PMID:28492532 PMID:29979387 PMID:35738466 More...
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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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 chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831
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Tnfrsf11b
TNF receptor superfamily member 11B
severity
ISO
associated with Kidney Failure, Chronic
RGD
PMID:22943310
RGD:7205482
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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Cenpc
centromere protein C
ISO
associated with Anticentromere antibody positivity
RGD
PMID:25220385
RGD:27372886
NCBI chr14:21,988,067...22,046,732
Ensembl chr14:21,988,144...22,055,476
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Fbn1
fibrillin 1
ISO
RGD
PMID:10395706
RGD:12910471
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Slc29a1
solute carrier family 29 member 1
ISS
OMIM:106400
MouseDO
NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203
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Adcy5
adenylate cyclase 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
G
Casr
calcium-sensing receptor
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:10023897 PMID:10077597 PMID:10217111 PMID:10468915 PMID:10488104 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 PMID:10971459 PMID:11013439 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: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: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: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:23265383 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: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:29354167 PMID:29375828 PMID:29743878 PMID:29846619 PMID:29848507 PMID:30019023 PMID:30052933 PMID:30306783 PMID:30376845 PMID:30407919 PMID:30470382 PMID:30496603 PMID:30544257 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:32347971 PMID:32375028 PMID:32386559 PMID:32430905 PMID:32537548 PMID:32593617 PMID:32638038 PMID:32761341 PMID:32775520 PMID:32871939 PMID:32892159 PMID:33094630 PMID:33112267 PMID:33147586 PMID:33258288 PMID:33434173 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34160437 PMID:34659108 PMID:34714514 PMID:34772415 PMID:34887979 PMID:34906475 PMID:34913197 PMID:34993031 PMID:35242665 PMID:35300448 PMID:35318962 PMID:35402765 PMID:35733207 PMID:35818129 PMID:36090548 PMID:37654565 More...
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
G
Ccdc14
coiled-coil domain containing 14
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:66,052,063...66,087,915
Ensembl chr11:66,052,620...66,087,956
G
Cd86
CD86 molecule
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
G
Csta
cystatin A
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:11807402 PMID:20798521 PMID:28492532
NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488
G
Dtx3l
deltex E3 ubiquitin ligase 3L
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,814,926...64,824,539
Ensembl chr11:64,814,926...64,824,538
G
Eaf2
ELL associated factor 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:63,960,200...64,004,610
Ensembl chr11:63,960,200...64,004,610
G
Fam162a
family with sequence similarity 162, member A
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,680,978...64,709,865
Ensembl chr11:64,680,323...64,711,239
G
Grhpr
glyoxylate and hydroxypyruvate reductase
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603
G
Hacd2
3-hydroxyacyl-CoA dehydratase 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:65,667,671...65,762,903
Ensembl chr11:65,670,281...65,762,889
G
Heg1
heart development protein with EGF-like domains 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:67,006,954...67,095,020
Ensembl chr11:66,957,190...67,095,051
G
Hprt1
hypoxanthine phosphoribosyltransferase 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:11018746 PMID:23975452 PMID:25481104 PMID:28492532
NCBI chr X:132,736,175...132,768,149
Ensembl chr X:132,736,096...132,768,154
G
Hspbap1
HSPB1 associated protein 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,940,089...64,994,753
Ensembl chr11:64,940,091...64,994,756
G
Ildr1
immunoglobulin-like domain containing receptor 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760
G
Iqcb1
IQ motif containing B1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
G
Itgb5
integrin subunit beta 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:66,828,428...66,944,231
Ensembl chr11:66,829,285...66,944,472
G
Kalrn
kalirin, RhoGEF kinase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:66,198,155...66,803,166
Ensembl chr11:66,198,173...66,797,610
G
Kpna1
karyopherin subunit alpha 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,715,844...64,774,647
Ensembl chr11:64,717,563...64,774,623
G
Mix23
mitochondrial matrix import factor 23
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,660,711...64,681,000
Ensembl chr11:64,660,711...64,681,000
G
Muc13
mucin 13, cell surface associated
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:66,957,208...66,980,264
Ensembl chr11:66,960,595...66,984,727
G
Mylk
myosin light chain kinase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
G
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...
NCBI chr X:127,089,508...127,140,362
Ensembl chr X:127,089,590...127,140,362
G
Osbpl11
oxysterol binding protein-like 11
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:67,533,669...67,616,795
Ensembl chr11:67,533,672...67,596,444
G
Parp14
poly (ADP-ribose) polymerase family, member 14
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,902,848...64,934,916
Ensembl chr11:64,902,785...64,934,916
G
Parp9
poly (ADP-ribose) polymerase family, member 9
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,780,977...64,814,995
Ensembl chr11:64,780,981...64,815,455
G
Pdia5
protein disulfide isomerase family A, member 5
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:65,272,152...65,359,087
Ensembl chr11:65,272,155...65,359,084
G
Prps1
phosphoribosyl pyrophosphate synthetase 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187
G
Ropn1
rhophilin associated tail protein 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:66,097,854...66,127,148
Ensembl chr11:66,097,856...66,127,148
G
Sec22a
SEC22 homolog A, vesicle trafficking protein
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:65,402,583...65,462,329
Ensembl chr11:65,402,684...65,462,319
G
Sema5b
semaphorin 5B
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:65,102,532...65,225,456
Ensembl chr11:65,102,031...65,225,311
G
Slc12a8
solute carrier family 12, member 8
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:67,116,876...67,266,548
Ensembl chr11:67,116,877...67,266,834
G
Slc15a2
solute carrier family 15 member 2
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,014,182...64,043,228
Ensembl chr11:64,014,182...64,043,225
G
Slc49a4
solute carrier family 49 member 4
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,995,629...65,068,929
Ensembl chr11:64,995,679...65,068,926
G
Snx4
sorting nexin 4
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:67,460,872...67,518,143
Ensembl chr11:67,460,870...67,518,174
G
Umps
uridine monophosphate synthetase
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
G
Wdr5b
WD repeat domain 5B
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:64,710,945...64,712,804
Ensembl chr11:64,710,355...64,712,807
G
Zfp148
zinc finger protein 148
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:28492532
NCBI chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772
G
Casr
calcium-sensing receptor
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)
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:8733126 PMID:8878438 PMID:9011580 PMID:9039332 PMID:9109436 PMID:9395465 PMID:9422777 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10468915 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 PMID:10971459 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:12574201 PMID:12580936 PMID:12733714 PMID:12890593 PMID:14089114 PMID:14508624 PMID:14714270 PMID:14985373 PMID:14997007 PMID:15201280 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:16740594 PMID:17018660 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:19759318 PMID:19779033 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:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24297799 PMID:24947037 PMID:25091521 PMID:25104082 PMID:25137426 PMID:25292184 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 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:29846619 PMID:29848507 PMID:30407919 PMID:30544257 PMID:30895164 PMID:31433868 PMID:31672324 PMID:32347971 PMID:32386559 PMID:32430905 PMID:32537548 PMID:32638038 PMID:32761341 PMID:32892159 PMID:33112267 PMID:33258288 PMID:34008892 PMID:34024353 PMID:34088669 PMID:34772415 PMID:34993031 PMID:35300448 PMID:35318962 PMID:35733207 PMID:36090548 PMID:7493018 PMID:21034470 PMID:7726161 PMID:7916660 More...
RGD:7205436 , RGD:7205499 , RGD:7205440 , RGD:1600616
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
G
Gna11
G protein subunit alpha 11
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 | ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, type II
OMIM CTD ClinVar
PMID:9536098 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 PMID:26729423 PMID:28194446 PMID:28492532 More...
NCBI chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812
G
Ap2s1
adaptor related protein complex 2 subunit sigma 1
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1524075 PMID:9536098 PMID:17576681 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...
NCBI chr 1:77,417,496...77,428,903
Ensembl chr 1:77,417,477...77,428,905
G
Fgf23
fibroblast growth factor 23
TAS
RGD
PMID:12419819
RGD:1303356
NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821
G
Clcn5
chloride voltage-gated channel 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
G
Phex
phosphate regulating endopeptidase X-linked
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets
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...
NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469
G
Phyh
phytanoyl-CoA 2-hydroxylase
ISO
ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT
ClinVar
PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 PMID:28492532 More...
NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
G
Prss1
serine protease 1
ISO
ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT
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...
NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792
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Vdr
vitamin D receptor
ISO
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets | ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT
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:9360557 PMID:9495519 PMID:9536098 PMID:10204116 PMID:10707958 PMID:11564167 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:25741868 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26787776 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28492532 PMID:28620554 PMID:29949513 PMID:31557081 PMID:35738466 More...
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Ccn2
cellular communication network factor 2
ISO
ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1
ClinVar
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1
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:24033266 PMID:25326635 PMID:25741868 PMID:26857895 PMID:27238374 PMID:27467858 PMID:28377967 PMID:28492532 PMID:28973083 PMID:29141319 PMID:29244957 PMID:29979387 PMID:31444901 PMID:31805212 PMID:31826312 PMID:32573669 PMID:33005041 PMID:33465815 PMID:34609116 PMID:34633109 PMID:34906475 PMID:35276006 PMID:35482848 PMID:35738466 More...
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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Enpp3
ectonucleotide pyrophosphatase/phosphodiesterase 3
ISO
ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1
ClinVar
NCBI chr 1:20,563,700...20,635,044
Ensembl chr 1:20,563,697...20,635,041
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Abcc6
ATP binding cassette subfamily C member 6
ISO
ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 2
OMIM ClinVar
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:12714611 PMID:14631379 PMID:15086542 PMID:15098239 PMID:15459974 PMID:15645653 PMID:15723264 PMID:15752294 PMID:15894595 PMID:16086317 PMID:16127278 PMID:16199547 PMID:16392638 PMID:16410789 PMID:16541094 PMID:16573612 PMID:16835894 PMID:16854481 PMID:17576681 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:20799350 PMID:20801516 PMID:20849526 PMID:21179111 PMID:21935449 PMID:22209248 PMID:23483032 PMID:23572048 PMID:23702584 PMID:24008425 PMID:24033266 PMID:24088041 PMID:24352041 PMID:25062064 PMID:25264593 PMID:25265166 PMID:25615550 PMID:25741868 PMID:26029710 PMID:26084751 PMID:26633545 PMID:26982014 PMID:27133371 PMID:27994049 PMID:28041643 PMID:28102862 PMID:28186352 PMID:28492532 PMID:28655553 PMID:28912966 PMID:29722917 PMID:29800625 PMID:30154241 PMID:30229859 PMID:30328268 PMID:30537162 PMID:30805891 PMID:31164056 PMID:32860008 PMID:32873932 PMID:33946315 PMID:34205333 PMID:34597610 PMID:34906475 PMID:36317459 More...
NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
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Bcs1l
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ISO ISS
ClinVar Annotator: match by term: GRACILE syndrome OMIM:603358 CTD Direct Evidence: marker/mechanism
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:20518024 PMID:21274865 PMID:22277166 PMID:22310368 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:33511646 PMID:34662929 More...
NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
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Lbr
lamin B receptor
ISO
ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia CTD Direct Evidence: marker/mechanism DNA:mutations:cds:multiple (human)
OMIM ClinVar CTD 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:30448303 PMID:30518689 PMID:30561119 PMID:32827848 PMID:34567078 PMID:36307859 PMID:21327084 More...
RGD:9588626
NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
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Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Heme oxygenase 1 deficiency
CTD OMIM ClinVar
PMID:9884342 PMID:16199547 PMID:21088618 PMID:22023467 PMID:25741868 PMID:26526137 PMID:27662012 PMID:28492532 PMID:32587840 PMID:33066778 More...
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Akr1d1
aldo-keto reductase family 1, member D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18624455
NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372
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Alad
aminolevulinate dehydratase
treatment
IDA
RGD
PMID:3679087
RGD:12904688
NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
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Alas2
5'-aminolevulinate synthase 2
severity
ISO
DNA:mutation:cds:c.15599C>T,p.520L(human)
RGD
PMID:16446107
RGD:11035246
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
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B2m
beta-2 microglobulin
ISS
OMIM:231100
MouseDO
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Bmp2
bone morphogenetic protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
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Bmp6
bone morphogenetic protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19252486 PMID:19252488
NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365
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Cp
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17258727
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Hamp
hepcidin antimicrobial peptide
ISO
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
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: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...
RGD:1599358
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Hfe
homeostatic iron regulator
ISO
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)
ClinVar CTD RGD
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: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: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: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:20107990 PMID:20160468 PMID:20301613 PMID:20471131 PMID:20560808 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:27659401 PMID:27667161 PMID:27890643 PMID:28111930 PMID:28280078 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:8696333 PMID:30651232 PMID:12850493 PMID:12190960 PMID:10194428 More...
RGD:7207252 , RGD:14746965 , RGD:10755540 , RGD:8694411 , RGD:8694372
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hjv
hemojuvelin BMP co-receptor
ISO
juvenile hemochromatosis, type 2A, OMIM:602390 CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16868025 PMID:17255318 PMID:19252486 PMID:21411349 PMID:14647275
RGD:1599478
NCBI chr 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850
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Hmox1
heme oxygenase 1
ISS
OMIM:231100
MouseDO
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Slc11a2
solute carrier family 11 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11439223
NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
G
Slc40a1
solute carrier family 40 member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD ClinVar
PMID:16457665 PMID:21411349
NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
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Tfr2
transferrin receptor 2
ISO
hemochromatosis, type 3, HFE3, OMIM:604250 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
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:25741868 PMID:26029709 PMID:26183747 PMID:26408288 PMID:27667161 PMID:27896572 PMID:28276324 PMID:28492532 PMID:35462491 PMID:10802645 More...
RGD:1599386
NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:promoter:-238G>A (rs361525) (human) DNA:SNP:promoter:-308G>A (human)
CTD RGD
PMID:16793930 PMID:11389006 PMID:16793930
RGD:12904656 , RGD:12904050
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Bmp2
bone morphogenetic protein 2
ISO
OMIM
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
G
Hamp
hepcidin antimicrobial peptide
ISO
ClinVar Annotator: match by term: Hemochromatosis type 1
ClinVar
PMID:12915468 PMID:19214511 PMID:25741868 PMID:28492532
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
G
Hfe
homeostatic iron regulator
ISS ISO
OMIM:235200 ClinVar Annotator: match by term: Hemochromatosis type 1
MouseDO ClinVar OMIM
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: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:10612845 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:18199861 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:20107990 PMID:20117027 PMID:20301613 PMID:20471131 PMID:20560808 PMID:20609690 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:28280078 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 More...
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hjv
hemojuvelin BMP co-receptor
ISO
ClinVar Annotator: match by term: Hemochromatosis type 1
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...
NCBI chr 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850
G
Slc40a1
solute carrier family 40 member 1
ISO
ClinVar Annotator: match by term: Hemochromatosis type 1
ClinVar
PMID:28492532
NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
G
Tfr2
transferrin receptor 2
ISO
ClinVar Annotator: match by term: Hemochromatosis type 1 | ClinVar Annotator: match by term: Hemochromatosis, type 1, modifier of
ClinVar
PMID:12150153 PMID:16424658 PMID:20301523 PMID:22890139 PMID:23600741 PMID:24055163 PMID:25741868 PMID:26029709 PMID:28492532 More...
NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591
G
Hamp
hepcidin antimicrobial peptide
ISO
ClinVar Annotator: match by term: Juvenile hemochromatosis
ClinVar
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
G
Hfe
homeostatic iron regulator
ISO
ClinVar Annotator: match by term: Juvenile hemochromatosis
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 More...
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hjv
hemojuvelin BMP co-receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile hemochromatosis
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...
NCBI chr 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850
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Ankrd34a
ankyrin repeat domain 34A
ISO
ClinVar Annotator: match by term: Hemochromatosis type 2A
ClinVar
PMID:28492532
NCBI chr 2:184,129,830...184,135,075
Ensembl chr 2:184,129,238...184,135,116
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Hamp
hepcidin antimicrobial peptide
ISO
ClinVar Annotator: match by term: Hemochromatosis, type 2a, modifier of
ClinVar
PMID:12915468 PMID:19214511 PMID:25741868 PMID:28492532
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Hjv
hemojuvelin BMP co-receptor
ISO ISS
ClinVar Annotator: match by term: HJV-related condition | ClinVar Annotator: match by term: Hemochromatosis type 2A OMIM:602390
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: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:32824233 PMID:34946929 More...
NCBI chr 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850
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Polr3gl
RNA polymerase III subunit GL
ISO
ClinVar Annotator: match by term: Hemochromatosis type 2A
ClinVar
PMID:28492532
NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114
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Txnip
thioredoxin interacting protein
ISO
ClinVar Annotator: match by term: Hemochromatosis type 2A
ClinVar
PMID:28492532
NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
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Hamp
hepcidin antimicrobial peptide
ISO ISS
ClinVar Annotator: match by term: Hemochromatosis type 2B OMIM:613313 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:12469120 PMID:12915468 PMID:15082576 PMID:15099344 PMID:15198949 PMID:19214511 PMID:21088809 PMID:22297252 PMID:22924847 PMID:25741868 PMID:27007796 PMID:28492532 PMID:33016646 More...
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Tfr2
transferrin receptor 2
ISO ISS IAGP
ClinVar Annotator: match by term: Hemochromatosis due to defect in transferrin receptor 2 | ClinVar Annotator: match by term: Hemochromatosis type 3 | ClinVar Annotator: match by term: Hereditary hemochromatosis type 3 OMIM:604250 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:Ala679Gly (rat)
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:18245657 PMID:18450729 PMID:18762941 PMID:20301523 PMID:21524769 PMID:21770687 PMID:22890139 PMID:22981443 PMID:23556518 PMID:23600741 PMID:24055163 PMID:25741868 PMID:26029709 PMID:26183747 PMID:26408288 PMID:27667161 PMID:27896572 PMID:28276324 PMID:28492532 PMID:34946929 PMID:35462491 PMID:23582421 More...
RGD:150520058
NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591
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Slc40a1
solute carrier family 40 member 1
ISO ISS
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
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: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:27896572 PMID:28110135 PMID:28492532 PMID:30002125 PMID:30130274 PMID:31640930 PMID:32360131 More...
NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
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Best1
bestrophin 1
ISO
ClinVar Annotator: match by term: Hemochromatosis type 5
ClinVar
PMID:14615048 PMID:25741868 PMID:28492532
NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
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Fth1
ferritin heavy chain 1
ISO
ClinVar Annotator: match by term: Hemochromatosis type 5 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11389486 PMID:14615048 PMID:25741868 PMID:28492532
NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
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Tfr2
transferrin receptor 2
ISO
ClinVar Annotator: match by term: Hereditary hemochromatosis type 5
ClinVar
PMID:28492532
NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591
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Jam3
junctional adhesion molecule 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
OMIM CTD ClinVar
PMID:21109224 PMID:23255084 PMID:25741868 PMID:25741869 PMID:28492532 PMID:32860008 More...
NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355
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Cp
ceruloplasmin
susceptibility
ISO
DNA:splice-site mutation
RGD
PMID:7539672 PMID:7539672
RGD:1599626 , RGD:1599626
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Nt5e
5' nucleotidase, ecto
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ARTERIAL CALCIFICATION DUE TO DEFICIENCY OF CD73 | ClinVar Annotator: match by term: Calcification of joints and arteries | ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome
OMIM CTD ClinVar
PMID:21288095 PMID:24887587 PMID:25741868 PMID:28492532
NCBI chr 8:89,271,046...89,314,918
Ensembl chr 8:89,270,696...89,314,881
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Tnfrsf11b
TNF receptor superfamily member 11B
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
RGD
PMID:22386825
RGD:7205494
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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Pth
parathyroid hormone
ISO
protein:decreased expression:plasma (mouse)
RGD
PMID:19570882
RGD:7242924
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Slc34a1
solute carrier family 34 member 1
ISO ISS
OMIM:241530 DNA:deletions, snps:multiple (human)
MouseDO RGD
PMID:19570882 PMID:16358215
RGD:7242924 , RGD:7242925
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Slc34a3
solute carrier family 34 member 3
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 PMID:16849419 PMID:17576681 PMID:18523928 PMID:18996815 PMID:19820004 PMID:20074341 PMID:21344632 PMID:22159077 PMID:22387237 PMID:24033266 PMID:24176905 PMID:24246249 PMID:25741868 PMID:26399350 PMID:26789268 PMID:28492532 PMID:29505567 PMID:29809158 PMID:30798342 PMID:31440709 PMID:31672324 PMID:32963591 PMID:33223529 PMID:33226606 PMID:33532864 PMID:34805638 PMID:35689455 PMID:36699160 More...
NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970
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Calca
calcitonin-related polypeptide alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1115441 PMID:12637657
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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Calcr
calcitonin receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18627265
NCBI chr 4:31,661,270...31,736,392
Ensembl chr 4:31,661,273...31,736,392
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Casr
calcium-sensing receptor
ISO
ClinVar Annotator: match by term: Hypercalcemia CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:p.R990G, p.E1011Q (human)
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...
RGD:734698 , RGD:7205445
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22337913
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20427501
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Kl
Klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Pth
parathyroid hormone
IDA ISO
associated with Kidney Failure, Chronic CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 PMID:17164314 PMID:23261531 More...
RGD:7242689
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Pth1r
parathyroid hormone 1 receptor
IDA
protein:increased expression:odontoblast; associated with neoplasms
RGD
PMID:16036863
RGD:1599980
NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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Pthlh
parathyroid hormone-like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896
NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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Slc34a1
solute carrier family 34 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9560283
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf11b
TNF receptor superfamily member 11B
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15845617
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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Tnfsf11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15845617
NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile, 1
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:27798933 PMID:28109821 PMID:28470390 PMID:28492532 PMID:32375123 PMID:33099630 PMID:33952337 PMID:34307984 PMID:34662328 PMID:34858904 PMID:35956396 PMID:36703897 PMID:37701149 More...
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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Kl
Klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20394945
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile, 2
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16688119 PMID:17576681 PMID:20466674 PMID:21597970 PMID:24033266 PMID:25296721 PMID:25741868 PMID:26047794 PMID:26787776 PMID:28492532 PMID:28893421 PMID:29924459 PMID:29959532 PMID:31672324 PMID:33099630 PMID:33226606 PMID:33536578 PMID:34805638 More...
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Casr
calcium-sensing receptor
no_association susceptibility
ISO IEP
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)
RGD
PMID:19887834 PMID:20602573 PMID:22137721 PMID:12239240
RGD:7205502 , RGD:7205445 , RGD:7205675 , RGD:7205666
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Cldn16
claudin 16
ISO
ClinVar Annotator: match by term: Hypercalciuria, childhood, self-limiting
ClinVar
PMID:14628289
NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22337913
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1324751 PMID:3017235
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Pth
parathyroid hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17164314
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Slc34a1
solute carrier family 34 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9560283 PMID:21784483
RGD:7242936
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Slc34a3
solute carrier family 34 member 3
ISO
ClinVar Annotator: match by term: Hypercalciuria
ClinVar
NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970
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Vdr
vitamin D receptor
IEP
protein:increased expression:kidney, small intestine
RGD
PMID:19929616
RGD:4889914
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Adcy10
adenylate cyclase 10
susceptibility
ISO
ClinVar Annotator: match by term: ADCY10-related condition | ClinVar Annotator: match by term: Familial idiopathic hypercalciuria CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:11932268 PMID:17576681 PMID:25741868 PMID:26787776 PMID:28492532 More...
NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951
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Dcaf6
DDB1 and CUL4 associated factor 6
ISO
ClinVar Annotator: match by term: ADCY10-related condition | ClinVar Annotator: match by term: Familial idiopathic hypercalciuria
ClinVar
PMID:9536098 PMID:11932268 PMID:17576681 PMID:25741868 PMID:26787776 PMID:28492532 More...
NCBI chr13:77,626,257...77,727,645
Ensembl chr13:77,626,307...77,727,512
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Kl
Klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20394945
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Ftl1
ferritin light chain 1
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:
ClinVar CTD OMIM RGD
PMID:2336358 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:10383191 PMID:10759702 PMID:11438811 PMID:11703332 PMID:11849230 PMID:12199804 PMID:12200611 PMID:12670350 PMID:12730114 PMID:12746423 PMID:14662596 PMID:15173247 PMID:16395671 PMID:16518306 PMID:16900584 PMID:17182944 PMID:17576681 PMID:18414213 PMID:18710380 PMID:18854324 PMID:19176363 PMID:19800271 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:28492532 PMID:28746593 PMID:29269865 PMID:30401656 PMID:30678075 PMID:31414986 PMID:32241646 PMID:9292547 PMID:22020773 More...
RGD:1598966 , RGD:5509864
NCBI chr 1:95,936,387...95,938,234
Ensembl chr 1:95,936,387...95,939,725 Ensembl chr10:95,936,387...95,939,725
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Gys1
glycogen synthase 1
ISO
ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts
ClinVar
PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr 1:95,915,443...95,935,292
Ensembl chr 1:95,915,443...95,935,292
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Pgap3
post-GPI attachment to proteins phospholipase 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome
CTD ClinVar
PMID:25741868 PMID:27618451 PMID:30217754 PMID:30345601
NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628
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Pigg
phosphatidylinositol glycan anchor biosynthesis, class G
ISO
ClinVar Annotator: match by term: MABRY SYNDROME
ClinVar
PMID:25741868 PMID:26996948 PMID:28492532
NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187
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Pigl
phosphatidylinositol glycan anchor biosynthesis, class L
ISO
ClinVar Annotator: match by term: MABRY SYNDROME
ClinVar
NCBI chr10:47,142,160...47,199,892
Ensembl chr10:47,141,780...47,200,145
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Pigo
phosphatidylinositol glycan anchor biosynthesis, class O
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome
CTD ClinVar
PMID:22683086 PMID:24033266 PMID:24417746 PMID:25741868 PMID:28492532 PMID:28545593 More...
NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
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Pigv
phosphatidylinositol glycan anchor biosynthesis, class V
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome | ClinVar Annotator: match by term: MABRY SYNDROME
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...
NCBI chr 5:145,889,642...145,901,533
Ensembl chr 5:145,889,646...145,901,533
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Pigw
phosphatidylinositol glycan anchor biosynthesis, class W
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475
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Pigy
phosphatidylinositol glycan anchor biosynthesis, class Y
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 8:20,689,621...20,691,863
Ensembl chr 8:20,689,502...20,692,585
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Pigb
phosphatidylinositol glycan anchor biosynthesis, class B
ISO
ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1
ClinVar
PMID:25326635 PMID:25741868 PMID:31256876
NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679
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Pigg
phosphatidylinositol glycan anchor biosynthesis, class G
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2
ClinVar
PMID:25741868 PMID:26996948 PMID:28492532
NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187
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Pigl
phosphatidylinositol glycan anchor biosynthesis, class L
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2
ClinVar
NCBI chr10:47,142,160...47,199,892
Ensembl chr10:47,141,780...47,200,145
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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 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
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Pigv
phosphatidylinositol glycan anchor biosynthesis, class V
ISO
DNA:missense mutations:CDS:multiple (human) ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 | ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 | ClinVar Annotator: match by term: MABRY SYNDROME
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...
RGD:243048420
NCBI chr 5:145,889,642...145,901,533
Ensembl chr 5:145,889,646...145,901,533
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Arhgef39
Rho guanine nucleotide exchange factor 39
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109
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Arid3c
AT-rich interaction domain 3C
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:56,890,042...56,895,888
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Atosb
atos homolog B
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892
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Car9
carbonic anhydrase 9
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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Ccdc107
coiled-coil domain containing 107
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
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Ccin
calicin
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951
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Ccl19
C-C motif chemokine ligand 19
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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Ccl21
C-C motif chemokine ligand 21
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
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Ccl27
C-C motif chemokine ligand 27
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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Cd72
Cd72 molecule
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725
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Cimip2b
ciliary microtubule inner protein 2B
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611
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Clta
clathrin, light chain A
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472
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Cntfr
ciliary neurotrophic factor receptor
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:56,823,965...56,841,392
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Creb3
cAMP responsive element binding protein 3
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390
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Dctn3
dynactin subunit 3
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102
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Dnai1
dynein, axonemal, intermediate chain 1
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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Dnajb5
DnaJ heat shock protein family (Hsp40) member B5
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490
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Enho
energy homeostasis associated
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777
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Fam221b
family with sequence similarity 221, member B
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367
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Fancg
FA complementation group G
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
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Galt
galactose-1-phosphate uridylyltransferase
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
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Gba2
glucosylceramidase beta 2
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
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Glipr2
GLI pathogenesis-related 2
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:58,170,417...58,202,258
Ensembl chr 5:58,170,425...58,202,272
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Gne
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
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Hint2
histidine triad nucleotide binding protein 2
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097
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Hrct1
histidine rich carboxyl terminus 1
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790
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Il11ra1
interleukin 11 receptor subunit alpha 1
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
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Msmp
microseminoprotein, prostate associated
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985
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Npr2
natriuretic peptide receptor 2
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
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Or13c7
olfactory receptor family 13 subfamily C member 7
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852
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Or13j1
olfactory receptor family 13 subfamily J member 1
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853
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Phf24
PHD finger protein 24
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497
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Pigo
phosphatidylinositol glycan anchor biosynthesis, class O
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
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 More...
NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
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Reck
reversion-inducing-cysteine-rich protein with kazal motifs
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502
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Rgp1
RGP1 homolog, RAB6A GEF complex partner 1
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086
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Rpp25l
ribonuclease P/MRP subunit p25 like
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013
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Rusc2
RUN and SH3 domain containing 2
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524
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Sigmar1
sigma non-opioid intracellular receptor 1
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
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Sit1
signaling threshold regulating transmembrane adaptor 1
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838
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Spag8
sperm associated antigen 8
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
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Spata31f1
SPATA31 subfamily F member 1
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738
G
Spata31g1
SPATA31 subfamily G member 1
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070
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Stoml2
stomatin like 2
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920
G
Tesk1
testis associated actin remodelling kinase 1
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698
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Tln1
talin 1
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
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Tmem8b
transmembrane protein 8B
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772
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Tpm2
tropomyosin 2
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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Unc13b
unc-13 homolog B
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926
G
Vcp
valosin-containing protein
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
ClinVar
PMID:22683086 PMID:24417746 PMID:28492532
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
G
Pgap2
post-GPI attachment to proteins 2
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 8 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 3 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2164379 PMID:21629298 PMID:21643797 PMID:23561846 PMID:23561847 PMID:25741868 PMID:25741869 More...
NCBI chr 1:156,591,540...156,618,116
Ensembl chr 1:156,591,615...156,618,114
G
Pgap3
post-GPI attachment to proteins phospholipase 3
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 10 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4
OMIM ClinVar
PMID:2443911 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22315194 PMID:24439110 PMID:25741868 PMID:27120253 PMID:28327575 PMID:28390064 PMID:28492532 PMID:29310717 PMID:29531774 PMID:29620724 PMID:30217754 PMID:30345601 PMID:32726939 PMID:32845056 PMID:32860008 PMID:34582790 PMID:35887114 More...
NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628
G
Setd5
SET domain containing 5
ISO
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4
ClinVar
NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
G
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...
NCBI chr10:69,299,029...69,392,207
Ensembl chr10:69,299,037...69,392,201
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...
NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
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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...
NCBI chr10:69,034,887...69,054,100
Ensembl chr10:69,037,708...69,054,113
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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...
NCBI chr10:68,824,594...68,847,400
Ensembl chr10:68,824,645...68,848,266
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Dhrs11
dehydrogenase/reductase 11
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...
NCBI chr10:69,698,214...69,708,294
Ensembl chr10:69,698,214...69,708,295
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Dusp14
dual specificity phosphatase 14
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...
NCBI chr10:68,936,483...68,966,347
Ensembl chr10:68,935,330...68,965,329
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Ggnbp2
gametogenetin binding protein 2
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...
NCBI chr10:69,711,527...69,743,134
Ensembl chr10:69,711,532...69,743,365
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Hnf1b
HNF1 homeobox B
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...
NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
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Lhx1
LIM homeobox 1
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...
NCBI chr10:69,396,829...69,403,617
Ensembl chr10:69,396,829...69,403,617
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Mrm1
mitochondrial rRNA methyltransferase 1
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...
NCBI chr10:69,690,406...69,697,326
Ensembl chr10:69,690,421...69,696,709
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Myo19
myosin XIX
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
ClinVar
PMID:24367057 PMID:25741868 PMID:27626616 PMID:28492532 PMID:30679815 PMID:30813920 PMID:32198969 PMID:32466763 More...
NCBI chr10:69,753,082...69,782,450
Ensembl chr10:69,753,068...69,782,450
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Pigw
phosphatidylinositol glycan anchor biosynthesis, class W
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
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...
NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475
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Synrg
synergin, gamma
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...
NCBI chr10:68,848,828...68,931,252
Ensembl chr10:68,849,642...68,931,250
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Tada2a
transcriptional adaptor 2A
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...
NCBI chr10:68,966,502...69,014,149
Ensembl chr10:68,966,502...69,014,105
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Pigy
phosphatidylinositol glycan anchor biosynthesis, class Y
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12
OMIM ClinVar
PMID:25741868 PMID:26293662 PMID:28492532
NCBI chr 8:20,689,621...20,691,863
Ensembl chr 8:20,689,502...20,692,585
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Pyurf
PIGY upstream open reading frame
ISO
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12
ClinVar
PMID:25741868 PMID:26293662 PMID:28492532
NCBI chr 4:87,501,859...87,505,494
Ensembl chr 4:87,501,859...87,505,494
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Fgf23
fibroblast growth factor 23
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821
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Galnt3
polypeptide N-acetylgalactosaminyltransferase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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Kl
Klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Pth
parathyroid hormone
IDA ISO
associated with Kidney Failure, Chronic CTD Direct Evidence: marker/mechanism associated with Kidney Failure, Chronic
CTD RGD
PMID:12399635 PMID:23548309 PMID:23211335
RGD:7242565 , RGD:7242693
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Slc34a1
solute carrier family 34 member 1
ISO
protein:increased expression:kidney (mouse)
RGD
PMID:18835926 PMID:20418498
RGD:7242940 , RGD:7243099
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Fgf23
fibroblast growth factor 23
ISO
ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
ClinVar
PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 PMID:25326637 PMID:29389098 More...
NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821
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Galnt3
polypeptide N-acetylgalactosaminyltransferase 3
ISO ISS
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
CTD ClinVar MouseDO
PMID:15133511 PMID:20358599 PMID:25741868 PMID:28492532
NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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Kl
Klotho
ISO ISS
ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome OMIM:211900
ClinVar MouseDO
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Acrbp
acrosin binding protein
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213
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Acsm4
acyl-CoA synthetase medium-chain family member 4
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 1:174,053,931...174,078,345
Ensembl chr 1:174,053,931...174,078,341
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Adipor2
adiponectin receptor 2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
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Aicda
activation-induced cytidine deaminase
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Akap3
A-kinase anchoring protein 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,688,049...159,714,067
Ensembl chr 4:159,699,289...159,713,903
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Ano2
anoctamin 2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:158,514,200...158,855,639
Ensembl chr 4:158,496,014...158,855,651
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Apobec1
apolipoprotein B mRNA editing enzyme catalytic subunit 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390
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Atn1
atrophin 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
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B4galnt3
beta-1,4-N-acetyl-galactosaminyl transferase 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:153,409,019...153,509,019
Ensembl chr 4:153,409,004...153,509,321
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C1r
complement C1r
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
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C1rl
complement C1r subcomponent like
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134
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C1s
complement C1s
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
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C3ar1
complement C3a receptor 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
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Cacna1c
calcium voltage-gated channel subunit alpha1 C
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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Cacna2d4
calcium voltage-gated channel auxiliary subunit alpha2delta 4
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:152,408,588...152,521,478
Ensembl chr 4:152,408,657...152,521,268
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Ccdc77
coiled-coil domain containing 77
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:153,534,184...153,566,059
Ensembl chr 4:153,534,187...153,566,545
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Ccnd2
cyclin D2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Cd163
CD163 molecule
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cd27
CD27 molecule
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
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Cd4
Cd4 molecule
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,668,878...157,695,366
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Cd9
CD9 molecule
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:158,256,328...158,289,136
Ensembl chr 4:158,256,328...158,289,222
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Cdca3
cell division cycle associated 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799
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Chd4
chromodomain helicase DNA binding protein 4
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541
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Clec4a1
C-type lectin domain family 4, member A1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:156,173,894...156,186,009
Ensembl chr 4:156,173,894...156,186,008
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Clec4a3
C-type lectin domain family 4, member A3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:156,214,030...156,224,818
Ensembl chr 4:156,214,718...156,224,817
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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 4:156,462,742...156,486,240
Ensembl chr 4:156,462,742...156,486,240
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Clec4d
C-type lectin domain family 4, member D
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:156,589,591...156,599,279
Ensembl chr 4:156,589,792...156,598,848
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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 4:156,606,927...156,612,911
Ensembl chr 4:156,607,614...156,612,767
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Clec6a-ps1
C-type lectin domain family 6, member A, pseudogene 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:156,539,408...156,559,032
Ensembl chr 4:156,539,408...156,558,605 Ensembl chr 4:156,539,408...156,558,605
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Clstn3
calsyntenin 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,331,494...157,364,769
Ensembl chr 4:157,331,494...157,364,769
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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 4:157,766,626...157,792,632
Ensembl chr 4:157,766,588...157,773,948
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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 4:160,428,987...160,517,427
Ensembl chr 4:160,408,077...160,518,107
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Dcp1b
decapping mRNA 1B
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:152,358,267...152,395,747
Ensembl chr 4:152,358,241...152,397,145
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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 4:155,851,461...155,854,845
Ensembl chr 4:155,815,296...155,854,861 Ensembl chr 5:155,815,296...155,854,861
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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 4:159,715,658...159,757,660
Ensembl chr 4:159,715,417...159,757,627
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Emg1
EMG1 N1-specific pseudouridine methyltransferase
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540
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Eno2
enolase 2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
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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 4:152,763,664...153,055,724
Ensembl chr 4:152,767,419...153,055,639
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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 chr16:70,098,439...70,106,147
Ensembl chr16:70,098,740...70,101,241
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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 4:152,662,542...152,666,360
Ensembl chr 4:152,662,542...152,666,360
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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 4:159,772,693...159,809,322
Ensembl chr 4:159,772,786...159,806,382
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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 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821
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Fgf6
fibroblast growth factor 6
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,854,913...159,863,447
Ensembl chr 4:159,854,913...159,863,447
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Fkbp4
FKBP prolyl isomerase 4
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,703,379...161,711,833
Ensembl chr 4:161,703,379...161,711,833
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Foxj2
forkhead box J2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:156,047,043...156,073,540
Ensembl chr 4:156,046,969...156,073,518
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Foxm1
forkhead box M1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,639,538...161,652,012
Ensembl chr 4:161,638,816...161,650,684
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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:18322299 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 More...
NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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Galnt8
polypeptide N-acetylgalactosaminyltransferase 8
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,626,438...159,650,327
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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Gdf3
growth differentiation factor 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937
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Gnb3
G protein subunit beta 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173
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Gpr162
G protein-coupled receptor 162
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,662,200...157,668,341
Ensembl chr 4:157,662,200...157,668,121
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Grcc10
gene rich cluster, C10 gene
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,551,276...157,552,924
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Iffo1
intermediate filament family orphan 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,945,075...157,962,302
Ensembl chr 4:157,945,107...157,962,302
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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 4:157,841,882...157,850,519
Ensembl chr 4:157,841,951...157,850,265
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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 4:154,610,933...154,707,310
Ensembl chr 4:154,610,934...154,707,310
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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 4:161,684,249...161,698,315
Ensembl chr 4:161,684,249...161,698,422
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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 4:159,464,223...159,472,905
Ensembl chr 4:159,464,188...159,472,682
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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 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697
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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 4:159,542,941...159,576,189
Ensembl chr 4:159,542,615...159,576,189
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Kdm5a
lysine demethylase 5A
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422
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Kl
Klotho
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:17710231 PMID:25741868 PMID:28492532 PMID:29389098
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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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 4:155,455,465...155,467,301
Ensembl chr 4:155,455,495...155,467,424
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Lag3
lymphocyte activating 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,712,665...157,722,229
Ensembl chr 4:157,712,667...157,720,404
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LOC120102747
small nucleolar RNA U89
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,520,539...157,520,799
Ensembl chr 4:157,520,539...157,520,799
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Lpar5
lysophosphatidic acid receptor 5
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,870,493...157,883,979
Ensembl chr 4:157,881,796...157,882,950
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Lpcat3
lysophosphatidylcholine acyltransferase 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,468,397...157,509,889
Ensembl chr 4:157,468,290...157,509,880
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Lrrc23
leucine rich repeat containing 23
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,581,285...157,592,188
Ensembl chr 4:157,581,291...157,591,860
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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 4:152,485,863...152,508,248
Ensembl chr 4:152,485,866...152,500,377
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Ltbr
lymphotoxin beta receptor
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539
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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 4:155,501,080...155,510,219
Ensembl chr 4:155,500,921...155,510,216
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Mfap5
microfibril associated protein 5
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,727,925...155,750,458
Ensembl chr 4:155,727,925...155,750,458
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Mir141
microRNA 141
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332
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Mir200c
microRNA 200c
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,523,679...157,523,747
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Mlf2
myeloid leukemia factor 2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,739,651...157,744,325
Ensembl chr 4:157,728,756...157,744,317
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Mrpl51
mitochondrial ribosomal protein L51
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,991,756...157,994,715
Ensembl chr 4:157,992,408...157,995,414
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Nanog
Nanog homeobox
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116
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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 4:157,968,814...157,992,314
Ensembl chr 4:157,968,815...157,992,020
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Ndufa9
NADH:ubiquinone oxidoreductase subunit A9
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,659,242...159,688,034
Ensembl chr 4:159,659,242...159,688,018
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Necap1
NECAP endocytosis associated 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:156,103,935...156,119,068
Ensembl chr 4:156,103,988...156,119,068
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Ninj2
ninjurin 2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:153,306,439...153,408,618
Ensembl chr 4:153,306,553...153,408,617
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Nop2
NOP2 nucleolar protein
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,932,731...157,944,462
Ensembl chr 4:157,932,716...157,944,459
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Nrip2
nuclear receptor interacting protein 2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,673,964...161,684,055
Ensembl chr 4:161,639,356...161,684,070
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Ntf3
neurotrophin 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
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P3h3
prolyl 3-hydroxylase 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,646,242...157,662,035
Ensembl chr 4:157,646,243...157,662,035
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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 4:160,298,040...160,344,369
Ensembl chr 4:160,304,905...160,341,946
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Pex5
peroxisomal biogenesis factor 5
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
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Phb2
prohibitin 2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,517,662...157,522,268
Ensembl chr 4:157,517,577...157,522,272
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Phc1
polyhomeotic homolog 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,510,274...155,532,636
Ensembl chr 4:155,510,274...155,533,959
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Pianp
PILR alpha associated neural protein
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,796,425...157,804,842
Ensembl chr 4:157,798,808...157,804,842
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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 4:158,163,443...158,182,628
Ensembl chr 4:158,162,969...158,182,271
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Prmt8
protein arginine methyltransferase 8
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:160,535,813...160,618,193
Ensembl chr 4:160,535,813...160,617,930
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Ptms
parathymosin
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,722,384...157,726,575
Ensembl chr 4:157,722,386...157,727,009
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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 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
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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 4:159,759,454...159,772,473
Ensembl chr 4:159,759,459...159,772,524
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Rad52
RAD52 homolog, DNA repair protein
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207
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Rhno1
RAD9-HUS1-RAD1 interacting nuclear orphan 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,634,047...161,639,437
Ensembl chr 4:161,634,048...161,639,371
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Rimklb
ribosomal modification protein rimK-like family member B
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,664,392...155,706,888
Ensembl chr 4:155,664,375...155,706,711
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Scarna10
small Cajal body-specific RNA 10
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,986,558...157,986,885
Ensembl chr 4:157,986,558...157,986,885
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Scarna11
small Cajal body-specific RNA 11
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,923,016...157,923,151
Ensembl chr 4:157,923,016...157,923,151
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Scnn1a
sodium channel epithelial 1 subunit alpha
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
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Slc2a3
solute carrier family 2 member 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
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Slc6a12
solute carrier family 6 member 12
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:154,585,386...154,603,750
Ensembl chr 4:154,585,500...154,603,750
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Slc6a13
solute carrier family 6 member 13
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:154,539,246...154,577,784
Ensembl chr 4:154,540,468...154,576,152
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Spsb2
splA/ryanodine receptor domain and SOCS box containing 2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,613,404...157,615,293
Ensembl chr 4:157,613,401...157,615,284
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Tapbpl
TAP binding protein-like
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:158,021,454...158,028,905
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Tead4
TEA domain transcription factor 4
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,474,122...161,572,837
Ensembl chr 4:161,497,851...161,572,323
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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 4:161,651,232...161,663,250
Ensembl chr 4:161,638,816...161,660,540
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Tigar
TP53 induced glycolysis regulatory phosphatase
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,927,136...159,946,077
Ensembl chr 4:159,927,139...159,946,029
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tpi1
triosephosphate isomerase 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
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Tspan9
tetraspanin 9
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:160,813,879...160,995,574
Ensembl chr 4:160,813,879...160,995,501
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Tulp3
TUB like protein 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,590,478...161,632,244
Ensembl chr 4:161,590,479...161,632,149
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Usp5
ubiquitin specific peptidase 5
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,619,663...157,634,681
Ensembl chr 4:157,619,643...157,634,711
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Vamp1
vesicle-associated membrane protein 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349
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Vwf
von Willebrand factor
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Wnk1
WNK lysine deficient protein kinase 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905
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Wnt5b
Wnt family member 5B
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:152,609,566...152,733,790
Ensembl chr 4:152,609,569...152,733,407
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Zfp384
zinc finger protein 384
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,810,263...157,840,052
Ensembl chr 4:157,810,352...157,839,766
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Fgf23
fibroblast growth factor 23
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...
NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821
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Kl
Klotho
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 3
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:17710231 PMID:25741868 PMID:28492532 PMID:29389098 PMID:32870266 PMID:34906475 More...
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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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
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3017235
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Pth
parathyroid hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11701698 PMID:11770836
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Tbx1
T-box transcription factor 1
ISO
DNA:frameshift mutation:CDS:p.G387AfsX73 (human)
RGD
PMID:32110744
RGD:155641234
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Adrb2
adrenoceptor beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1848636 PMID:2826064 PMID:17292646
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Agt
angiotensinogen
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7182184
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Akr1b1
aldo-keto reductase family 1 member B1
IEP
RGD
PMID:17409277
RGD:1626084
NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
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Atp12a
ATPase H+/K+ transporting non-gastric alpha2 subunit
IEP
RGD
PMID:9729517
RGD:13838663
NCBI chr15:30,443,571...30,468,229
Ensembl chr15:30,443,571...30,468,229
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Cldn10
claudin 10
ISO
ClinVar Annotator: match by term: Hypokalemia
ClinVar
PMID:25741868
NCBI chr15:95,862,785...95,954,526
Ensembl chr15:95,862,760...95,954,526
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Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:496411
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Kcnj16
potassium inwardly-rectifying channel, subfamily J, member 16
IMP
protein:decreased expression:cortical collecting duct, distal convoluted tubule (rat)
RGD
PMID:28931751
RGD:38500204
NCBI chr10:95,990,009...96,021,356
Ensembl chr10:95,960,725...96,021,702
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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
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Nppb
natriuretic peptide B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20339970
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11932321
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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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...
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Rhcg
Rh family, C glycoprotein
IEP
protein:increased expression:outer medulla of kidney
RGD
PMID:21753075
RGD:9850155
NCBI chr 1:133,531,704...133,555,902
Ensembl chr 1:133,531,716...133,555,876
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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 More...
NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091
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Sst
somatostatin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2563217
NCBI chr11:76,956,896...76,958,173
Ensembl chr11:76,956,896...76,958,173
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Kcnj16
potassium inwardly-rectifying channel, subfamily J, member 16
ISO
ClinVar Annotator: match by term: Hypokalemic tubulopathy and deafness
ClinVar OMIM
PMID:33811157
NCBI chr10:95,990,009...96,021,356
Ensembl chr10:95,960,725...96,021,702
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Aloxe3
arachidonate lipoxygenase 3
ISO
ClinVar Annotator: match by term: Hypophosphatemia
ClinVar
PMID:25741868
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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Fgf23
fibroblast growth factor 23
ISO
ClinVar Annotator: match by term: Hypophosphatemia
ClinVar
PMID:25741868
NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821
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Hes7
hes family bHLH transcription factor 7
ISO
ClinVar Annotator: match by term: Hypophosphatemia
ClinVar
PMID:25741868
NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097
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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 chr10:100,403,189...100,420,290
Ensembl chr10:100,403,069...100,420,598
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Nr1i2
nuclear receptor subfamily 1, group I, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19898264
NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658
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Phex
phosphate regulating endopeptidase X-linked
ISO
ClinVar Annotator: match by term: Hypophosphatemia
ClinVar
PMID:25741868
NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469
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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 chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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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 chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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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 chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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F12
coagulation factor XII
ISO
ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1
ClinVar
PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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:27378183 PMID:28492532 PMID:28893421 PMID:29924459 PMID:29959532 PMID:30778725 PMID:30943683 PMID:31672324 PMID:33099630 PMID:33226606 PMID:33536578 PMID:34805638 More...
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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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 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970
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Nherf1
NHERF family PDZ scaffold protein 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 2
OMIM CTD ClinVar
PMID:18784102 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28893421 More...
NCBI chr10:100,403,189...100,420,290
Ensembl chr10:100,403,069...100,420,598
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Dmp1
dentin matrix acidic phosphoprotein 1
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar
PMID:24033266 PMID:25741868 PMID:35738466
NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets
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...
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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Fam20c
FAM20C, golgi associated secretory pathway kinase
ISO
RGD
PMID:22615579
RGD:11558021
NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
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Fgf23
fibroblast growth factor 23
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets
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...
RGD:10044208
NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar
PMID:25741868 PMID:35738466
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar
PMID:25741868 PMID:35738466
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Phex
phosphate regulating endopeptidase X-linked
ISO
ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar
PMID:9097956 PMID:9106524 PMID:9199930 PMID:9768674 PMID:10737991 PMID:11004247 PMID:11468271 PMID:12414858 PMID:12727977 PMID:16199547 PMID:18162710 PMID:18625346 PMID:19219621 PMID:22261628 PMID:22695891 PMID:23466123 PMID:24684036 PMID:24836714 PMID:25031893 PMID:25741868 PMID:26040324 PMID:26467025 PMID:27840894 PMID:28492532 PMID:29460029 PMID:29505567 PMID:29707405 PMID:29858904 PMID:30298486 PMID:30607568 PMID:30682568 PMID:35738466 More...
NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469
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Phyh
phytanoyl-CoA 2-hydroxylase
ISO
ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS
ClinVar
PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 PMID:28492532 More...
NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
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Prss1
serine protease 1
ISO
ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS
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...
NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792
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Vdr
vitamin D receptor
ISO
ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets
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:9360557 PMID:9495519 PMID:9536098 PMID:10204116 PMID:10707958 PMID:11564167 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:25741868 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26787776 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28492532 PMID:28620554 PMID:29949513 PMID:31557081 PMID:35738466 More...
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Wdr72
WD repeat domain 72
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar
PMID:31959358
NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
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Dmp1
dentin matrix acidic phosphoprotein 1
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:16294270 PMID:17033621 PMID:17033625 PMID:17576681 PMID:19007919 PMID:21050253 PMID:25741868 PMID:28492532 More...
NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.Y901S (human)
OMIM ClinVar CTD RGD
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: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:29244957 PMID:29979387 PMID:31826312 PMID:34609116 PMID:35738466 PMID:20137773 PMID:20137772 More...
RGD:6906930 , RGD:6906931
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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Chrna6
cholinergic receptor nicotinic alpha 6 subunit
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
PMID:27726124
NCBI chr16:64,697,741...64,704,441
Ensembl chr16:64,697,741...64,704,441
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Chrnb3
cholinergic receptor nicotinic beta 3 subunit
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
PMID:27726124
NCBI chr16:64,713,438...64,751,360
Ensembl chr16:64,714,169...64,751,360
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Duox2
dual oxidase 2
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
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Fnta
farnesyltransferase, CAAX box, subunit alpha
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
PMID:27726124
NCBI chr16:66,065,131...66,083,460
Ensembl chr16:66,065,132...66,083,460
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Hook3
hook microtubule-tethering protein 3
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
PMID:27726124
NCBI chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338
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Pdgfb
platelet derived growth factor subunit B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
CTD ClinVar
PMID:23913003 PMID:25741868
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Pdgfrb
platelet derived growth factor receptor beta
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 3
CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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Rnf170
ring finger protein 170
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
PMID:27726124
NCBI chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083
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Slc20a2
solute carrier family 20 member 2
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 | ClinVar Annotator: match by term: SLC20A2-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16199547 PMID:20301594 PMID:22327515 PMID:23334463 PMID:23437308 PMID:24209445 PMID:24463626 PMID:25178512 PMID:25284758 PMID:25741868 PMID:26475232 PMID:27726124 PMID:27943094 PMID:28391956 PMID:28477710 PMID:28492532 PMID:29955172 PMID:30609140 PMID:30704756 PMID:31003906 PMID:31618668 PMID:32705272 PMID:33471268 PMID:34732400 More...
NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711
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Smim19
small integral membrane protein 19
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
PMID:27726124
NCBI chr16:69,551,507...69,564,323
Ensembl chr16:69,553,916...69,567,245
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Thap1
THAP domain containing 1
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
PMID:27726124
NCBI chr16:65,905,348...65,909,942
Ensembl chr16:65,904,230...65,909,942
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Pdgfrb
platelet derived growth factor receptor beta
ISO
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 PMID:20301594 PMID:23255827 PMID:23731537 PMID:23731542 PMID:24796542 PMID:25741868 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28417142 PMID:28492532 PMID:31064749 PMID:34494111 More...
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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Pdgfb
platelet derived growth factor subunit B
ISO
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:20301594 PMID:21409505 PMID:23913003 PMID:25211641 PMID:25741868
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Xpr1
xenotropic and polytropic retrovirus receptor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 | ClinVar Annotator: match by term: XPR1-related primary familial brain calcification
OMIM CTD ClinVar
PMID:886353 PMID:25741868 PMID:25938945 PMID:28492532 PMID:31003906
NCBI chr13:67,441,205...67,585,950
Ensembl chr13:67,446,380...67,585,946
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Myorg
myogenesis regulating glycosidase
ISO
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive | ClinVar Annotator: match by term: MYORG-related condition
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...
NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440
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Jam2
junctional adhesion molecule 2
ISO
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 8, autosomal recessive | ClinVar Annotator: match by term: JAM2-related condition
OMIM ClinVar
PMID:25741868 PMID:26136916 PMID:31851307 PMID:32142645
NCBI chr11:23,830,820...23,880,071
Ensembl chr11:23,831,106...23,880,063
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Naa60
N(alpha)-acetyltransferase 60, NatF catalytic subunit
ISO
ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE
ClinVar OMIM
PMID:38480682
NCBI chr10:11,622,554...11,653,078
Ensembl chr10:11,587,916...11,642,755
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Ifih1
interferon induced with helicase C domain 1
ISO
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, childhood-onset | ClinVar Annotator: match by term: Cerebral calcification nonarteriosclerotic idiopathic childhood-onset
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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Acap3
ArfGAP with coiled-coil, ankyrin repeat and PH domains 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 5:166,501,150...166,515,477
Ensembl chr 5:166,500,781...166,515,481
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Actrt2
actin-related protein T2
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 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
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Agrn
agrin
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 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
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Ankrd65
ankyrin repeat domain 65
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 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
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Arhgef16
Rho guanine nucleotide exchange factor 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...
NCBI chr 5:164,843,656...164,866,212
Ensembl chr 5:164,844,161...164,866,212
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Atad3a
ATPase family, AAA domain containing 3A
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 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
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B3galt6
Beta-1,3-galactosyltransferase 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...
NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
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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...
NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
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C5h1orf159
similar to human chromosome 1 open reading frame 159
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 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
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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...
NCBI chr 5:164,585,285...164,599,391
Ensembl chr 5:164,585,267...164,599,355
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Ccnl2
cyclin L2
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 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882
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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...
NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
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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...
NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
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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...
NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
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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...
NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
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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...
NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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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...
NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
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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...
NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326
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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...
NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
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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...
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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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...
NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
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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...
NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
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Isg15
ISG15 ubiquitin-like modifier
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
OMIM CTD 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...
NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435
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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...
NCBI chr 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925
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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...
NCBI chr 5:164,570,539...164,580,174
Ensembl chr 5:164,570,435...164,580,174
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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...
NCBI chr 5:164,738,272...164,839,142
Ensembl chr 5:164,738,352...164,839,139
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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...
NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
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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...
NCBI chr 5:166,648,494...166,648,582
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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...
NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
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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...
NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
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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...
NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
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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...
NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433
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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...
NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892
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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...
NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492
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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...
NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
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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...
NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322
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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...
NCBI chr 5:166,820,150...166,831,949
Ensembl chr 5:166,820,161...166,831,949
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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...
NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
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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...
NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
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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...
NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
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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...
NCBI chr 5:166,805,309...166,813,339
Ensembl chr 5:166,804,837...166,813,155
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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...
NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
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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...
NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
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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...
NCBI chr 5:165,462,610...165,465,213
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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...
NCBI chr 5:166,497,643...166,500,647
Ensembl chr 5:166,496,755...166,500,611
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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...
NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
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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...
NCBI chr 5:166,723,346...166,726,236
Ensembl chr 5:166,724,984...166,725,751
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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...
NCBI chr 5:166,831,681...166,859,805
Ensembl chr 5:166,831,663...166,850,009
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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 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
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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 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
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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 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
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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 5:164,579,327...164,584,650
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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...
NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
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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 5:166,468,703...166,472,759
Ensembl chr 5:166,469,589...166,472,742
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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...
NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636
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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...
NCBI chr 5:166,048,669...166,050,423
Ensembl chr 5:166,046,565...166,050,433
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Tmem88b
transmembrane protein 88B
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 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904
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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...
NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
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Tnfrsf18
TNF receptor superfamily member 18
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 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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Tnfrsf4
TNF receptor superfamily member 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 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
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Tp73
tumor protein p73
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 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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Tprg1l
tumor protein p63 regulated 1-like
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 5:164,722,151...164,725,358
Ensembl chr 5:164,710,285...164,725,425
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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...
NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857
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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...
NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707
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Ube2j2
ubiquitin-conjugating enzyme E2, J2
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 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804
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Vwa1
von Willebrand factor A domain 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...
NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
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Wrap73
WD repeat containing, antisense to TP73
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 5:164,706,112...164,721,645
Ensembl chr 5:164,706,163...164,721,643
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Infantile hypercalcemia CTD Direct Evidence: marker/mechanism
ClinVar CTD
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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Slc34a1
solute carrier family 34 member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypercalcemia, infantile
CTD ClinVar
PMID:24033266 PMID:25741868
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Trpm6
transient receptor potential cation channel, subfamily M, member 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HYPOMAGNESEMIC TETANY | ClinVar Annotator: match by term: Intestinal hypomagnesemia 1
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...
NCBI chr 1:216,136,407...216,320,523
Ensembl chr 1:216,170,038...216,320,520
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Trpm7
transient receptor potential cation channel, subfamily M, member 7
ISO
ClinVar Annotator: match by term: Intestinal hypomagnesemia 1
ClinVar
NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190
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App
amyloid beta precursor protein
IEP
mRNA:decreased expression:hippocampus:
RGD
PMID:18723004
RGD:2301196
NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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Atp7a
ATPase copper transporting alpha
severity
ISO IEP
mRNA:increased expression:duodenum (mouse) DNA:deletion:cds:p.A799_L800del (mouse) mRNA:increased expression:small intestine mucosa (rat)
RGD
PMID:23776592 PMID:23776592 PMID:15637178
RGD:11252172 , RGD:11252172 , RGD:2315589
NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
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C1qa
complement C1q A chain
IEP
mRNA:increased expression:hippocampus:
RGD
PMID:18723004
RGD:2301196
NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534
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Crp
C-reactive protein
IEP
protein:increased expression:plasma
RGD
PMID:19730160
RGD:5131463
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Cst3
cystatin C
IEP
mRNA:increased expression:hippocampus (rat)
RGD
PMID:18723004
RGD:2301196
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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Fn1
fibronectin 1
IEP
mRNA:increased expression:hippocampus:
RGD
PMID:18723004
RGD:2301196
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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Gpx1
glutathione peroxidase 1
treatment
IEP ISO
associated with Renal Insufficiency, Chronic
RGD
PMID:7861256 PMID:24691014
RGD:11352760 , RGD:11352819
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Gsr
glutathione-disulfide reductase
ISO
protein:increased activity:plasma:
RGD
PMID:25097522
RGD:11059505
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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Hamp
hepcidin antimicrobial peptide
ISO IEP
mRNA:decreased expression:liver
RGD
PMID:17218383 PMID:22457245
RGD:11041606 , RGD:11041634
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Hfe
homeostatic iron regulator
ISO
associated with celiac disease;DNA:missense mutations: :p.H63D, p.C282Y (human)
RGD
PMID:29194702
RGD:14701052
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hp
haptoglobin
ISO
protein:decreased expression:serum
RGD
PMID:647925
RGD:11041798
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Il6
interleukin 6
IEP
associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat)
RGD
PMID:18808386
RGD:11062011
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Ireb2
iron responsive element binding protein 2
IEP
mRNA:increased expression:duodenal mucosa (rat) protein:altered activity:intestinal villus of duodenum (rat)
RGD
PMID:18549630 PMID:10095770
RGD:12904038 , RGD:12910699
NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611
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Itga2
integrin subunit alpha 2
ISO
DNA:SNP: :807C>T (human)
RGD
PMID:12225391
RGD:11530068
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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Kat5
lysine acetyltransferase 5
IEP
mRNA:increased expression:hippocampus (rat)
RGD
PMID:18723004
RGD:2301196
NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
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Pon1
paraoxonase 1
treatment
ISO
protein:decreased activity:serum (human)
RGD
PMID:16684543 PMID:26926576
RGD:11552586 , RGD:11553834
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Slc11a2
solute carrier family 11 member 2
IEP ISO
protein:increased expression:nasal cavity olfactory epithelium CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17116712 PMID:17116743
RGD:2311409
NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
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Slc4a1
solute carrier family 4 member 1 (Diego blood group)
IEP
protein:decreased expression:erythrocyte, membrane (rat)
RGD
PMID:1317772
RGD:10450513
NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17057260
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Tf
transferrin
susceptibility
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...
RGD:1601513
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
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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 chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Tmprss6
transmembrane serine protease 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18408718 PMID:22169218
NCBI chr 7:109,991,008...110,021,626
Ensembl chr 7:109,985,931...110,021,624
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Tnf
tumor necrosis factor
ISO
DNA:SNP:promoter:rs1800629 (human)
RGD
PMID:18716131
RGD:10450563
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Clu
clusterin
ISO
RGD
PMID:18723004
RGD:2301196
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Cp
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16988052
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Ftl1
ferritin light chain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16822677
NCBI chr 1:95,936,387...95,938,234
Ensembl chr 1:95,936,387...95,939,725 Ensembl chr10:95,936,387...95,939,725
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Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9884342
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Mon1a
MON1 homolog A, secretory trafficking associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17632513
NCBI chr 8:108,574,272...108,593,163
Ensembl chr 8:108,574,388...108,593,156
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Tfrc
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17163184 PMID:17254562
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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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 chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
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Best1
bestrophin 1
ISO
ClinVar Annotator: match by term: Iron Overload
ClinVar
PMID:14615048 PMID:25741868 PMID:28492532 PMID:28687848
NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
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Bmp6
bone morphogenetic protein 6
susceptibility
ISO
ClinVar Annotator: match by term: Iron overload, susceptibility to
OMIM ClinVar
PMID:25741868 PMID:26582087 PMID:28335084 PMID:32464486
NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365
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Cp
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20801540
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Entpd1
ectonucleoside triphosphate diphosphohydrolase 1
IEP
protein:enzyme activity:platelet
RGD
PMID:17119848
RGD:9685486
NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
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Epas1
endothelial PAS domain protein 1
treatment
ISO
associated with Beta-Thalassemia;
RGD
PMID:24282296
RGD:11041571
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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Fth1
ferritin heavy chain 1
ISO
DNA:snp:5' utr:c.-165T>A (human) ClinVar Annotator: match by term: Iron Overload CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:11389486 PMID:14615048 PMID:25741868 PMID:28492532 PMID:28687848 PMID:11389486 More...
RGD:737708
NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
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Ggt1
gamma-glutamyltransferase 1
IEP
protein:increased activity:liver
RGD
PMID:9559866
RGD:14747018
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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Gpx1
glutathione peroxidase 1
ISO
associated with Beta-Thalassemia
RGD
PMID:16317757
RGD:11352779
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
associated with Beta-Thalassemia;DNA:deletion: : (human)
RGD
PMID:19838709
RGD:10755320
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstt1
glutathione S-transferase theta 1
ISO
associated with Beta-Thalassemia;DNA:deletion: : (human)
RGD
PMID:19838709
RGD:10755320
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Hamp
hepcidin antimicrobial peptide
ISO IEP
associated with Beta-Thalassemia;DNA:SNP:promoter:c.-582A>G (rs10421768) (human) CTD Direct Evidence: marker/mechanism protein:increased expression:serum
CTD RGD
PMID:20801540 PMID:22659129 PMID:19734422 PMID:19524651
RGD:11041610 , RGD:11041720
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Hfe
homeostatic iron regulator
no_association
ISO
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
RGD
PMID:14636644 PMID:10895137 PMID:11869934 PMID:14636644
RGD:10755536 , RGD:10755542 , RGD:10755541 , RGD:10755536
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Ireb2
iron responsive element binding protein 2
IEP
mRNA:decreased expression:cerebral cortex (rat)
RGD
PMID:19943190
RGD:6893272
NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611
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Mapt
microtubule-associated protein tau
treatment
IDA
RGD
PMID:27403880
RGD:13800907
NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
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Slc11a2
solute carrier family 11 member 2
ISO
DNA:snp:exon:c.1285G>C (human)
RGD
PMID:15459009
RGD:1580431
NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
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Slc40a1
solute carrier family 40 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17052926
NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
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Tf
transferrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11110675
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
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Stab1
stabilin 1
ISO
ClinVar Annotator: match by term: Isolated hyperferritinemia
ClinVar OMIM
PMID:37490907
NCBI chr16:6,330,435...6,360,934
Ensembl chr16:6,330,444...6,360,923
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Fam111a
FAM111 trypsin like peptidase A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal dominant Kenny-Caffey syndrome
OMIM CTD ClinVar
PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:25741868 PMID:28492532 PMID:29073591 PMID:32996714 More...
NCBI chr 1:209,640,865...209,656,551
Ensembl chr 1:209,640,953...209,656,547
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Tbce
tubulin folding cofactor E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12389028
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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Mgp
matrix Gla protein
ISO
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: Pulmonic stenosis brachytelephalangism and calcification of cartilages CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:9916809 PMID:15810001 PMID:21705322 PMID:25741868 PMID:28492532 PMID:9916809 More...
RGD:1600783
NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
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Ftl1
ferritin light chain 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: L-ferritin deficiency | ClinVar Annotator: match by term: L-ferritin deficiency, autosomal recessive
OMIM CTD ClinVar
PMID:15173247 PMID:17182944 PMID:18414213 PMID:23940258 PMID:25741868 PMID:28492532 PMID:30678075 More...
NCBI chr 1:95,936,387...95,938,234
Ensembl chr 1:95,936,387...95,939,725 Ensembl chr10:95,936,387...95,939,725
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Gys1
glycogen synthase 1
ISO
ClinVar Annotator: match by term: L-ferritin deficiency
ClinVar
PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr 1:95,915,443...95,935,292
Ensembl chr 1:95,915,443...95,935,292
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Alox12b
arachidonate 12-lipoxygenase, 12R type
ISO
ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts
ClinVar
NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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Snord118
small nucleolar RNA, C/D box 118
ISO
ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts CTD Direct Evidence: marker/mechanism
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...
NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946
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Tmem107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts
ClinVar
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...
NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
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Clcn5
chloride voltage-gated channel 5
ISO
ClinVar Annotator: match by term: Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7915957 PMID:8559248 PMID:9062355 PMID:9187673 PMID:9734595 PMID:11136179 PMID:15086899 PMID:15719255 PMID:15895257 PMID:16822791 PMID:18038239 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:27889724 PMID:28492532 PMID:28580211 PMID:31672324 PMID:32683654 More...
NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Coronary sclerosis, medial, of infancy
ClinVar
PMID:9536098 PMID:15940697 PMID:17576681 PMID:25741868 PMID:28492532
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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Ammecr1
AMMECR nuclear protein 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
OMIM CTD ClinVar
PMID:21681106 PMID:25741868 PMID:27811305 PMID:28089922 PMID:28492532 PMID:29174631 PMID:29193635 More...
NCBI chr X:106,465,982...106,571,382
Ensembl chr X:106,466,699...106,571,487
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Gng5-ps4
G protein subunit gamma 5, pseudogene 4
ISO
ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
ClinVar
NCBI chr11:44,627,213...44,627,733
Ensembl chr11:44,627,300...44,627,503
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Rtl9
retrotransposon Gag like 9
ISO
ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
ClinVar
NCBI chr X:106,708,454...106,720,607
Ensembl chr X:106,714,868...106,719,794
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Tmem164
transmembrane protein 164
ISO
ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
ClinVar
PMID:21681106 PMID:27811305 PMID:28089922
NCBI chr X:106,288,019...106,448,642
Ensembl chr X:106,289,371...106,448,640
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Bmp6
bone morphogenetic protein 6
ISO
ClinVar Annotator: match by term: Neonatal hemochromatosis
ClinVar
PMID:25741868
NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365
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Hsd3b7
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
ISO
ClinVar Annotator: match by term: Neonatal hemochromatosis
ClinVar
PMID:25741868
NCBI chr 1:182,412,216...182,415,447
Ensembl chr 1:182,412,151...182,415,442
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Stx1b
syntaxin 1B
ISO
ClinVar Annotator: match by term: Neonatal hemochromatosis
ClinVar
PMID:25741868
NCBI chr 1:182,415,544...182,434,385
Ensembl chr 1:182,415,546...182,441,280
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Agxt
alanine--glyoxylate aminotransferase
ISO
ClinVar Annotator: match by term: Nephrocalcinosis
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...
NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336
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Atp6v1b1
ATPase H+ transporting V1 subunit B1
ISO
ClinVar Annotator: match by term: Nephrocalcinosis
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...
NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475
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Brd4
bromodomain containing 4
ISS
MouseDO
NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
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Cldn16
claudin 16
ISO
ClinVar Annotator: match by term: Nephrocalcinosis
ClinVar
PMID:10390358 PMID:25741868 PMID:28893421
NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588
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Cldn19
claudin 19
ISO
ClinVar Annotator: match by term: Nephrocalcinosis
ClinVar
PMID:25741868 PMID:28492532 PMID:28893421 PMID:33025205 PMID:34805638
NCBI chr 5:132,862,939...132,870,364
Ensembl chr 5:132,863,267...132,868,227
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Grhpr
glyoxylate and hydroxypyruvate reductase
ISO
ClinVar Annotator: match by term: Nephrocalcinosis
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...
NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603
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Phex
phosphate regulating endopeptidase X-linked
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9430241
NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469
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Polg2
DNA polymerase gamma 2, accessory subunit
ISS
MouseDO
NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3017235
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Pth
parathyroid hormone
IDA
RGD
PMID:23344571
RGD:7242573
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Slc12a1
solute carrier family 12 member 1
ISO
ClinVar Annotator: match by term: Nephrocalcinosis
ClinVar
PMID:8640224 PMID:9585600 PMID:17998760 PMID:18391953 PMID:19096086 PMID:28492532 PMID:28893421 More...
NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899
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Slc26a1
solute carrier family 26 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20160351
NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849
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Slc34a1
solute carrier family 34 member 1
ISO
associated with Hypercalciuria ClinVar Annotator: match by term: Nephrocalcinosis
ClinVar RGD
PMID:16199547 PMID:16688119 PMID:25741868 PMID:26047794 PMID:28492532 PMID:28893421 PMID:29959532 PMID:12674325 More...
RGD:7242938
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Slc3a1
solute carrier family 3 member 1
ISO
ClinVar Annotator: match by term: Nephrocalcinosis
ClinVar
PMID:18947684 PMID:24610330 PMID:25109415 PMID:25741868 PMID:25964309 PMID:28492532 PMID:28646536 PMID:28893421 PMID:33262960 More...
NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907
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Aars2
alanyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Iron accumulation in brain
ClinVar
PMID:32581362
NCBI chr 9:15,484,639...15,496,116
Ensembl chr 9:15,297,531...15,496,090
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Atp13a2
ATPase cation transporting 13A2
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
PMID:16199547 PMID:16964263 PMID:20683840 PMID:21060012 PMID:21665991 PMID:21696388 PMID:21724849 PMID:22296644 PMID:22768177 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29163333 PMID:29966207 PMID:30487145 More...
NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139
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C1h19orf12
similar to human chromosome 19 open reading frame 12
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
PMID:21981780 PMID:22584950 PMID:23269600 PMID:23436634 PMID:23494994 PMID:23857908 PMID:24033266 PMID:24361204 PMID:25558065 PMID:25592411 PMID:25741868 PMID:28492532 PMID:28641177 PMID:28832565 PMID:30088953 PMID:30392167 PMID:31087512 PMID:31518459 PMID:31804703 PMID:32552793 PMID:33607528 PMID:34284285 More...
NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208
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Coasy
Coenzyme A synthase
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
PMID:21264299 PMID:24360804 PMID:25741868 PMID:27021474 PMID:28357284 PMID:28489334 PMID:28492532 PMID:28688840 PMID:33644862 More...
NCBI chr10:86,014,566...86,018,849
Ensembl chr10:86,014,597...86,018,841
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Cp
ceruloplasmin
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
PMID:16629161 PMID:25741868 PMID:28492532 PMID:30901137 PMID:32235485 PMID:34347207 More...
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Crat
carnitine O-acetyltransferase
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
PMID:25741868 PMID:28492532 PMID:29395073
NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255
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Dcaf17
DDB1 and CUL4 associated factor 17
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
NCBI chr 3:55,863,776...55,895,601
Ensembl chr 3:55,863,799...55,891,820
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Fa2h
fatty acid 2-hydroxylase
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
PMID:20853438 PMID:25741868 PMID:27217339 PMID:27316240 PMID:28492532 PMID:29423566 PMID:30713878 PMID:31130284 PMID:31135052 PMID:32907636 PMID:33059505 PMID:33083013 PMID:34852264 More...
NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153
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Hps3
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
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Pank2
pantothenate kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20629144
NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320
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Pla2g6
phospholipase A2 group VI
ISO
ClinVar Annotator: match by term: Iron accumulation in brain | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
PMID:2668131 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: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:27516098 PMID:27848944 PMID:28150298 PMID:28492532 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:31516627 PMID:31689548 PMID:32183746 PMID:32357911 PMID:32707456 PMID:32771225 PMID:32860008 PMID:33050356 PMID:33550528 PMID:33619735 PMID:34168672 PMID:34272103 PMID:34307755 PMID:34520727 PMID:35122944 PMID:35247231 PMID:36790591 More...
NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
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Polr1c
RNA polymerase I and III subunit C
ISO
ClinVar Annotator: match by term: Iron accumulation in brain
ClinVar
PMID:32581362
NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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Reps1
RALBP1 associated Eps domain containing 1
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
PMID:29395073
NCBI chr 1:12,697,742...12,775,562
Ensembl chr 1:12,697,747...12,775,561
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Wdr45
WD repeat domain 45
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
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...
NCBI chr X:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202
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Ankrd54
ankyrin repeat domain 54
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,614,942...110,627,739
Ensembl chr 7:110,614,951...110,627,675
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Baiap2l2
BAR/IMD domain containing adaptor protein 2 like 2
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,824,370...110,850,702
Ensembl chr 7:110,824,375...110,850,702
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C1qtnf6
C1q and TNF related 6
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,077,867...110,084,584
Ensembl chr 7:110,077,878...110,084,412
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C7h22orf23
similar to human chromosome 22 open reading frame 23
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,704,894...110,712,485
Ensembl chr 7:110,704,894...110,712,487
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Card10
caspase recruitment domain family, member 10
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,330,460...110,371,551
Ensembl chr 7:110,330,408...110,359,224
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Cby1
chibby 1, beta catenin antagonist
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:111,216,835...111,223,305
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Cdc42ep1
CDC42 effector protein 1
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,395,287...110,403,203
Ensembl chr 7:110,395,332...110,403,200
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Cimip4
ciliary microtubule inner protein 4
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:109,928,165...109,944,994
Ensembl chr 7:109,928,173...109,947,072
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Csf2rb
colony stimulating factor 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 7:109,876,919...109,901,589
Ensembl chr 7:109,886,425...109,904,157
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Csnk1e
casein kinase 1, epsilon
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,983,322...111,006,926
Ensembl chr 7:110,983,318...111,006,794
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Cyth4
cytohesin 4
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,152,232...110,176,726
Ensembl chr 7:110,152,272...110,176,741
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Ddx17
DEAD-box helicase 17
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:111,091,127...111,109,353
Ensembl chr 7:111,089,445...111,109,193
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Dmc1
DNA meiotic recombinase 1
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:111,124,888...111,167,465
Ensembl chr 7:111,124,888...111,167,952
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Dock6
dedicator of cytokinesis 6
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...
NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552
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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 7:110,652,565...110,663,614
Ensembl chr 7:110,627,107...110,663,614
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Elfn2
extracellular leucine-rich repeat and fibronectin type III domain containing 2
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,220,293...110,272,770
Ensembl chr 7:110,225,919...110,272,433
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Fam227a
family with sequence similarity 227, member A
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:111,174,362...111,216,513
Ensembl chr 7:111,174,362...111,216,483
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Galr3
galanin receptor 3
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,603,525...110,608,429
Ensembl chr 7:110,605,226...110,607,685
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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
NCBI chr 7:110,595,126...110,601,474
Ensembl chr 7:110,595,091...110,601,473
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Gga1
golgi associated, gamma adaptin ear containing, ARF binding protein 1
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,436,071...110,451,790
Ensembl chr 7:110,435,062...110,451,789
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Gtpbp1
GTP binding protein 1
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:111,248,254...111,272,705
Ensembl chr 7:111,248,254...111,272,705
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H1f0
H1.0 linker histone
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,592,834...110,594,694
Ensembl chr 7:110,592,208...110,594,694
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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
NCBI chr 7:109,738,622...109,754,416
Ensembl chr 7:109,738,622...109,754,416
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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 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
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Josd1
Josephin domain containing 1
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:111,230,318...111,244,241
Ensembl chr 7:111,230,318...111,244,652
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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 7:111,047,097...111,074,151
Ensembl chr 7:111,047,094...111,074,151
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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 7:109,979,060...110,009,091
Ensembl chr 7:109,979,060...110,008,927
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Kdelr3
KDEL endoplasmic reticulum protein retention receptor 3
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:111,079,236...111,089,463
Ensembl chr 7:111,079,218...111,101,600
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Lgals1
galectin 1
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345
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Lgals2
galectin 2
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,403,171...110,410,046
Ensembl chr 7:110,403,173...110,404,802
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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 7:110,912,367...110,923,711
Ensembl chr 7:110,912,499...110,923,851
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Mfng
MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,310,810...110,328,653
Ensembl chr 7:110,310,812...110,328,653
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Micall1
MICAL-like 1
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,676,706...110,707,171
Ensembl chr 7:110,676,775...110,707,177
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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 7:109,955,581...109,963,155
Ensembl chr 7:109,955,675...109,963,141
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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 7:109,825,420...109,843,389
Ensembl chr 7:109,826,020...109,843,389
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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 7:110,493,294...110,498,908
Ensembl chr 7:110,493,246...110,498,907
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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 7:110,472,515...110,477,963
Ensembl chr 7:110,472,515...110,477,963
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Pick1
protein interacting with PRKCA 1
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,796,623...110,816,850
Ensembl chr 7:110,797,117...110,816,848
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Pla2g6
phospholipase A2 group VI
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 CTD Direct Evidence: marker/mechanism DNA:deletions, missense mutations, nonsense mutation: exon:multiple
OMIM ClinVar MouseDO CTD RGD
PMID:2668131 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: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:27516098 PMID:27709683 PMID:27848944 PMID:27882168 PMID:27942883 PMID:28150298 PMID:28295203 PMID:28492532 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: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:33050356 PMID:33098801 PMID:33279242 PMID:33361639 PMID:33547378 PMID:33550528 PMID:33619735 PMID:34168672 PMID:34272103 PMID:34307755 PMID:34445196 PMID:34520727 PMID:34602496 PMID:34622992 PMID:35032046 PMID:35041927 PMID:35122944 PMID:35247231 PMID:35624904 PMID:35861376 PMID:35911906 PMID:36499697 PMID:36790591 PMID:22934738 More...
RGD:12910703
NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
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Polr2f
RNA polymerase II, I and III subunit F
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
G
Pvalb
parvalbumin
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:109,772,939...109,787,954
Ensembl chr 7:109,772,593...109,784,561
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Rac2
Rac family small GTPase 2
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720
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Sh3bp1
SH3-domain binding protein 1
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,457,626...110,470,201
Ensembl chr 7:110,457,710...110,470,201
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Slc16a8
solute carrier family 16 member 8
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,818,274...110,822,069
Ensembl chr 7:110,818,274...110,822,069
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Sox10
SRY-box transcription factor 10
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544
G
Sstr3
somatostatin receptor 3
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,092,563...110,109,043
Ensembl chr 7:110,092,575...110,099,769
G
Sun2
Sad1 and UNC84 domain containing 2
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:111,275,374...111,292,565
Ensembl chr 7:111,275,380...111,292,553
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Tmem184b
transmembrane protein 184B
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,925,092...110,967,975
Ensembl chr 7:110,925,092...110,967,943
G
Tmprss6
transmembrane serine protease 6
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:109,991,008...110,021,626
Ensembl chr 7:109,985,931...110,021,624
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Tomm22
translocase of outer mitochondrial membrane 22
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:111,223,508...111,228,671
Ensembl chr 7:111,216,571...111,246,799
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Triobp
TRIO and F-actin binding protein
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:110,505,916...110,569,301
Ensembl chr 7:110,506,248...110,562,474
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Tst
thiosulfate sulfurtransferase
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy
ClinVar
PMID:16783378 PMID:18570303 PMID:18799783 PMID:22213678 PMID:28492532
NCBI chr 7:109,948,061...109,955,378
Ensembl chr 7:109,948,062...109,957,216
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Vcl
vinculin
ISO
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy 1
ClinVar
PMID:16783378 PMID:20301718 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606
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Pla2g6
phospholipase A2 group VI
ISO
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
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:25326635 PMID:25741868 PMID:26196026 PMID:26668131 PMID:26755131 PMID:27146152 PMID:27196560 PMID:27268037 PMID:27378808 PMID:27516098 PMID:28492532 PMID:28600779 PMID:28716262 PMID:29454663 PMID:29472584 PMID:29859652 PMID:29915382 PMID:30302010 PMID:30340910 PMID:30619057 PMID:30772976 PMID:31493945 PMID:31516627 PMID:31548400 PMID:32581362 PMID:32707456 PMID:32771225 PMID:32860008 PMID:33619735 PMID:34168672 PMID:34272103 PMID:34622992 PMID:35122944 PMID:36499697 PMID:36790591 More...
NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
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Ftl1
ferritin light chain 1
ISO
DNA:insertion:exon:460_461insA(human) 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)
ClinVar CTD OMIM RGD
PMID:9414300 PMID:11438811 PMID:12746423 PMID:14662596 PMID:16116125 PMID:17182944 PMID:18413574 PMID:18414213 PMID:18854324 PMID:21907119 PMID:23421845 PMID:23592921 PMID:25741868 PMID:25832658 PMID:26849797 PMID:28492532 PMID:17142829 PMID:19117339 PMID:18854324 More...
RGD:5509859 , RGD:5509861 , RGD:5509860
NCBI chr 1:95,936,387...95,938,234
Ensembl chr 1:95,936,387...95,939,725 Ensembl chr10:95,936,387...95,939,725
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Gys1
glycogen synthase 1
ISO
ClinVar Annotator: match by term: Neuroferritinopathy
ClinVar
PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr 1:95,915,443...95,935,292
Ensembl chr 1:95,915,443...95,935,292
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C1h19orf12
similar to human chromosome 19 open reading frame 12
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
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:31518459 PMID:31804703 PMID:31970231 PMID:32581362 PMID:33607528 PMID:34272103 PMID:34284285 More...
NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208
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Akap4
A-kinase anchoring protein 4
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:15,435,391...15,445,684
Ensembl chr X:15,435,410...15,445,684
G
Araf
A-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:1,227,392...1,292,356
Ensembl chr X:1,227,392...1,239,073
G
Bmp15
bone morphogenetic protein 15
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:16,169,123...16,174,187
Ensembl chr X:16,169,123...16,174,187
G
Cacna1f
calcium voltage-gated channel subunit alpha1 F
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
G
Ccdc120
coiled-coil domain containing 120
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,753,594...14,772,745
Ensembl chr X:14,753,696...14,772,743
G
Ccdc22
coiled-coil domain containing 22
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,898,296...14,910,244
Ensembl chr X:14,898,296...14,910,244
G
Ccnb3
cyclin B3
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:15,478,050...15,543,292
Ensembl chr X:15,478,065...15,542,885
G
Cdk16
cyclin-dependent kinase 16
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:1,492,814...1,504,309
Ensembl chr X:1,492,814...1,504,148
G
Cfp
complement factor properdin
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:1,162,014...1,167,576
Ensembl chr X:1,161,979...1,167,573
G
Clcn5
chloride voltage-gated channel 5
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
G
Dgkk
diacylglycerol kinase kappa
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:15,581,991...15,713,814
Ensembl chr X:15,583,572...15,712,987
G
Ebp
EBP, cholestenol delta-isomerase
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826
G
Elk1
ETS transcription factor ELK1
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:1,138,826...1,155,713
Ensembl chr X:1,139,756...1,155,713
G
Eras
ES cell expressed Ras
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,573,987...14,578,455
Ensembl chr X:14,573,987...14,578,374
G
Foxp3
forkhead box P3
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
G
Ftsj1
FtsJ RNA 2'-O-methyltransferase 1
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,243,684...14,256,555
Ensembl chr X:14,244,050...14,252,030
G
Gata1
GATA binding protein 1
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
G
Glod5
glyoxalase domain containing 5
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,473,994...14,488,797
Ensembl chr X:14,473,994...14,488,683
G
Gpkow
G patch domain and KOW motifs
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,791,601...14,806,384
Ensembl chr X:14,791,610...14,806,384
G
Gripap1
GRIP1 associated protein 1
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,678,896...14,708,747
Ensembl chr X:14,678,898...14,708,679
G
Hdac6
histone deacetylase 6
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
G
Kcnd1
potassium voltage-gated channel subfamily D member 1
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,661,688...14,678,745
Ensembl chr X:14,662,357...14,677,233
G
Magix
MAGI family member, X-linked
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,824,114...14,832,466
Ensembl chr X:14,824,188...14,831,045
G
Mir500
microRNA 500
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:15,258,778...15,258,857
Ensembl chr X:15,258,768...15,258,859
G
Mir532
microRNA 532
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:15,247,315...15,247,393
Ensembl chr X:15,247,315...15,247,393
G
Ndufb11
NADH:ubiquinone oxidoreductase subunit B11
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:1,572,805...1,575,063
Ensembl chr X:1,572,785...1,575,062
G
Otud5
OTU deubiquitinase 5
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:14,626,173...14,659,331
Ensembl chr X:14,626,164...14,659,573
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:14,580,036...14,583,478
Ensembl chr X:14,580,038...14,583,566
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:14,617,582...14,622,851
Ensembl chr X:14,617,582...14,622,851
G
Plp2
proteolipid protein 2
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,834,249...14,837,648
Ensembl chr X:14,834,231...14,838,514
G
Porcn
porcupine O-acyltransferase
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,285,864...14,298,481
Ensembl chr X:14,285,871...14,298,481
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:14,915,740...14,945,249
Ensembl chr X:14,929,323...14,945,193
G
Pqbp1
polyglutamine binding protein 1
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087
G
Praf2
PRA1 domain family, member 2
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,773,398...14,776,035
Ensembl chr X:14,773,420...14,775,909
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:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218
G
Rbm10
RNA binding motif protein 10
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:1,540,399...1,572,571
Ensembl chr X:1,540,398...1,572,575
G
Rbm3
RNA binding motif protein 3
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,348,909...14,352,387
Ensembl chr X:14,348,910...14,353,580
G
Shroom4
shroom family member 4
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:15,869,065...16,076,850
Ensembl chr X:15,869,065...16,076,869
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:14,608,145...14,616,937
Ensembl chr X:14,608,055...14,616,678
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:14,213,727...14,222,498
Ensembl chr X:14,213,729...14,222,498
G
Spaca5
sperm acrosome associated 5
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:918,817...922,000
Ensembl chr X:918,817...922,049
G
Ssx1
SSX family member 1
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:13,931,433...13,939,732
Ensembl chr X:13,931,470...13,939,720
G
Suv39h1
SUV39H1 histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,421,028...14,433,993
Ensembl chr X:14,421,109...14,433,982
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:141,792,589...141,795,257
G
Syn1
synapsin I
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:1,172,208...1,227,400
Ensembl chr X:1,172,208...1,227,396
G
Syp
synaptophysin
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745
G
Tbc1d25
TBC1 domain family, member 25
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,314,095...14,339,171
Ensembl chr X:14,314,414...14,338,275
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:14,729,547...14,742,830
Ensembl chr X:14,729,550...14,742,571
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:14,596,330...14,603,491
Ensembl chr X:14,594,577...14,603,416
G
Timp1
TIMP metallopeptidase inhibitor 1
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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:1,508,700...1,530,677
Ensembl chr X:1,508,666...1,530,636
G
Usp11
ubiquitin specific peptidase 11
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:1,473,349...1,489,520
Ensembl chr X:1,473,350...1,489,520
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:15,123,620...15,126,855
Ensembl chr X:15,124,596...15,125,912
G
Uxt
ubiquitously-expressed, prefoldin-like chaperone
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:1,126,110...1,138,670
Ensembl chr X:1,126,162...1,138,663
G
Was
WASP actin nucleation promoting factor
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,405,105...14,413,850
Ensembl chr X:14,405,124...14,413,849
G
Wdr13
WD repeat domain 13
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:14,362,484...14,373,727
Ensembl chr X:14,362,860...14,373,727
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
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:32307390 PMID:32382396 PMID:32387008 PMID:33037762 PMID:34368840 PMID:34906502 More...
NCBI chr X:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202
G
Zfp157
zinc finger protein 157
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr12:16,248,230...16,279,459
Ensembl chr12:16,248,230...16,270,698
G
Zfp182
zinc finger protein 182
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:927,439...1,001,474
Ensembl chr X:899,439...1,000,954
G
Znf81
zinc finger protein 81
ISO
ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration
ClinVar
PMID:28492532
NCBI chr X:1,030,103...1,126,078
Ensembl chr X:1,036,153...1,126,102
G
Coasy
Coenzyme A synthase
ISO ISS
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6 OMIM:615643 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
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:36495139 More...
NCBI chr10:86,014,566...86,018,849
Ensembl chr10:86,014,597...86,018,841
G
Reps1
RALBP1 associated Eps domain containing 1
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 7
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29395073
NCBI chr 1:12,697,742...12,775,562
Ensembl chr 1:12,697,747...12,775,561
G
Crat
carnitine O-acetyltransferase
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 8
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29395073
NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255
G
Best1
bestrophin 1
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 9
ClinVar
PMID:37660254
NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
G
Fth1
ferritin heavy chain 1
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 9
OMIM ClinVar
PMID:37660254
NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
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:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804
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 4:179,807,579...179,951,428
Ensembl chr 4:179,808,794...179,951,428
G
Samd9
sterile alpha motif domain containing 9
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CALCINOSIS, TUMORAL, WITH NORMOPHOSPHATEMIA | ClinVar Annotator: match by term: Normophosphatemic familial tumoral calcinosis
OMIM CTD ClinVar
PMID:16960814 PMID:18094730 PMID:25741868 PMID:28346228 PMID:28492532
NCBI chr 4:31,164,639...31,184,278
Ensembl chr 4:31,164,510...31,184,322
G
Fbn1
fibrillin 1
ISO
protein:increased expression:cortical bone, trabecular bone (mouse)
RGD
PMID:11159866
RGD:7794797
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
G
Mepe
matrix extracellular phosphoglycoprotein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11414762
NCBI chr14:5,420,634...5,432,186
Ensembl chr14:5,420,635...5,432,183
G
Adam33
ADAM metallopeptidase domain 33
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,262,395...118,283,456
Ensembl chr 3:118,271,029...118,283,461
G
Adissp
adipose secreted signaling protein
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,364,730...118,378,881
Ensembl chr 3:118,362,363...118,378,838
G
Adra1d
adrenoceptor alpha 1D
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,793,356...118,809,354
Ensembl chr 3:118,793,346...118,809,354
G
Ap5s1
adaptor related protein complex 5 subunit sigma 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,429,618...118,432,929
Ensembl chr 3:118,429,637...118,432,926
G
Atrn
attractin
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,110,320...118,244,326
Ensembl chr 3:118,110,229...118,244,322
G
Avp
arginine vasopressin
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
G
Bmp2
bone morphogenetic protein 2
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
G
Cdc25b
cell division cycle 25B
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,407,127...118,417,272
Ensembl chr 3:118,407,128...118,417,272
G
Cds2
CDP-diacylglycerol synthase 2
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:119,514,963...119,553,555
Ensembl chr 3:119,515,000...119,553,541
G
Cenpb
centromere protein B
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,396,987...118,399,780
Ensembl chr 3:118,388,546...118,400,470
G
Chgb
chromogranin B
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:120,043,824...120,057,169
Ensembl chr 3:120,043,738...120,057,166
G
Cpxm1
carboxypeptidase X (M14 family), member 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,588,532...117,595,330
Ensembl chr 3:117,588,532...117,595,330
G
Crls1
cardiolipin synthase 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:120,119,822...120,138,674
Ensembl chr 3:120,119,852...120,138,655
G
Ddrgk1
DDRGK domain containing 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,861,916...117,882,680
Ensembl chr 3:117,861,653...117,882,680
G
Dnaaf9
dynein axonemal assembly factor 9
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,918,047...118,052,641
Ensembl chr 3:117,921,620...118,052,630
G
Ebf4
EBF family member 4
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,498,186...117,566,566
Ensembl chr 3:117,498,319...117,566,566
G
Fastkd5
FAST kinase domains 5
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,830,219...117,847,707
Ensembl chr 3:117,830,083...117,847,820
G
Fermt1
FERM domain containing kindlin 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:120,171,301...120,213,555
Ensembl chr 3:120,171,561...120,213,555
G
Gfra4
GDNF family receptor alpha 4
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,254,937...118,262,252
Ensembl chr 3:118,255,402...118,258,329
G
Gpcpd1
glycerophosphocholine phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:119,787,681...119,832,550
Ensembl chr 3:119,787,682...119,832,517
G
Hspa12b
heat shock protein family A (Hsp70) member 12B
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,346,372...118,364,374
Ensembl chr 3:118,346,354...118,364,737
G
Idh3b
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,481,845...117,486,909
Ensembl chr 3:117,481,845...117,486,982
G
Itpa
inosine triphosphatase
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
G
Lrrn4
leucine rich repeat neuronal 4
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:120,138,093...120,150,877
Ensembl chr 3:120,139,410...120,150,831
G
Lzts3
leucine zipper tumor suppressor family member 3
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,850,286...117,861,132
Ensembl chr 3:117,851,702...117,860,081
G
Mavs
mitochondrial antiviral signaling protein
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:118,451,650...118,466,094
Ensembl chr 3:118,451,743...118,466,094
G
Mcm8
minichromosome maintenance 8 homologous recombination repair factor
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:120,086,741...120,117,008
Ensembl chr 3:120,086,763...120,117,008
G
Mir103a2
microRNA 103a-2
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
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...
NCBI chr 3:118,510,194...118,510,279
Ensembl chr 3:118,510,194...118,510,279
G
Mrps26
mitochondrial ribosomal protein S26
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,769,220...117,770,883
Ensembl chr 3:117,769,100...117,770,885
G
Nop56
NOP56 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,476,963...117,481,847
Ensembl chr 3:117,477,053...117,481,841
G
Oxt
oxytocin/neurophysin I prepropeptide
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490
G
Pank2
pantothenate kinase 2
ISO
ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | ClinVar Annotator: match by term: Pigmentary pallidal degeneration CTD Direct Evidence: marker/mechanism
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:17903678 PMID:18006953 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: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:31540697 PMID:32043823 PMID:32310012 PMID:32456086 PMID:32581362 PMID:32654475 PMID:32705819 PMID:32851917 PMID:33043782 PMID:33072517 PMID:33098801 PMID:33853092 PMID:34272103 PMID:35246191 More...
NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320
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Pced1a
PC-esterase domain containing 1A
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,600,958...117,622,992
Ensembl chr 3:117,616,921...117,622,962
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Pcna
proliferating cell nuclear antigen
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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Pdyn
prodynorphin
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
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Prnd
prion like protein doppel
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:119,213,462...119,218,742
Ensembl chr 3:119,213,429...119,218,745
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Prnp
prion protein
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
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Prokr2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
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Ptpra
protein tyrosine phosphatase, receptor type, A
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,650,146...117,759,744
Ensembl chr 3:117,650,183...117,759,728
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Rassf2
Ras association domain family member 2
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:119,244,288...119,280,462
Ensembl chr 3:119,245,821...119,280,431
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Rnf24
ring finger protein 24
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,520,459...118,575,213
Ensembl chr 3:118,525,349...118,541,080
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Shld1
shieldin complex subunit 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:119,938,695...120,011,068
Ensembl chr 3:119,938,833...120,009,550
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Siglec1
sialic acid binding Ig like lectin 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,287,988...118,307,125
Ensembl chr 3:118,287,988...118,306,850
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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 3:119,302,651...119,395,289
Ensembl chr 3:119,302,666...119,460,343
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Slc4a11
solute carrier family 4 member 11
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674
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Smox
spermine oxidase
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,731,814...118,767,242
Ensembl chr 3:118,731,900...118,765,710
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Snca
synuclein alpha
ISO
RGD
PMID:10934140
RGD:6480098
NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
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Sncb
synuclein, beta
ISO
RGD
PMID:10934140
RGD:6480098
NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
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Sncg
synuclein, gamma
ISO
RGD
PMID:10934140
RGD:6480098
NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368
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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 3:117,369,816...117,379,344
Ensembl chr 3:117,370,100...117,379,339
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Spef1
sperm flagellar 1
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:118,390,659...118,396,842
Ensembl chr 3:118,390,575...118,394,531
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Stk35
serine/threonine kinase 35
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,016,819...117,049,131
Ensembl chr 3:117,016,950...117,048,066
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Tgm3
transglutaminase 3
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,228,661...117,264,078
Ensembl chr 3:117,228,661...117,264,075
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Tgm6
transglutaminase 6
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,324,268...117,355,674
Ensembl chr 3:117,321,489...117,354,734
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Tmc2
transmembrane channel-like 2
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,396,378...117,464,336
Ensembl chr 3:117,396,378...117,464,336
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Tmem230
transmembrane protein 230
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:119,473,109...119,497,617
Ensembl chr 3:119,480,735...119,497,614
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Tmem239
transmembrane 239
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,604,765...117,605,978
Ensembl chr 3:117,603,564...117,607,125
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Trmt6
tRNA methyltransferase 6 non-catalytic subunit
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:120,074,899...120,086,639
Ensembl chr 3:120,074,911...120,086,559
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Ubox5
U-box domain containing 5
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,806,212...117,847,711
Ensembl chr 3:117,807,092...117,847,722
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Vps16
VPS16 core subunit of CORVET and HOPS complexes
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar
PMID:28492532
NCBI chr 3:117,622,534...117,644,041
Ensembl chr 3:117,622,542...117,646,441
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Pth
parathyroid hormone
IEP
protein:decreased expression:serum (rat)
RGD
PMID:22859939
RGD:8655928
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Zbtb20
zinc finger and BTB domain containing 20
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes | ClinVar Annotator: match by term: Primrose syndrome
CTD ClinVar OMIM
PMID:21567911 PMID:21910247 PMID:25017102 PMID:25741868 PMID:28327206 PMID:28462983 PMID:28492532 PMID:29737001 PMID:30256248 PMID:30637921 PMID:31321892 PMID:32071410 PMID:38177409 More...
NCBI chr11:57,052,129...57,791,214
Ensembl chr11:57,072,880...57,510,210
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Ocln
occludin
ISO
ClinVar Annotator: match by term: Pseudo-TORCH syndrome 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:18414213 PMID:19012351 PMID:20727516 PMID:25558065 PMID:25741868 PMID:28492532 More...
NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150
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Usp18
ubiquitin specific peptidase 18
ISO
ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2
OMIM ClinVar
PMID:12833411 PMID:25741868 PMID:27325888 PMID:31940699
NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144
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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
NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
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Gnas
GNAS complex locus
ISO ISS
DNA:deletions:exon ClinVar Annotator: match by term: Pseudohypoparathyroidism CTD Direct Evidence: marker/mechanism OMIM:612462
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:11073544 PMID:11092390 PMID:11095461 PMID:11450852 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: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...
RGD:11568042 , RGD:11568048 , RGD:11568047
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Pth1r
parathyroid hormone 1 receptor
ISO
ClinVar Annotator: match by term: Pseudohypoparathyroidism
ClinVar
PMID:25741868 PMID:35846276
NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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Gnas
GNAS complex locus
ISO
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
ClinVar OMIM RGD
PMID:1505964 PMID:8702665 PMID:9876352 PMID:11092390 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:12970262 PMID:15592469 PMID:15711092 PMID:16199547 PMID:18553568 PMID:18796523 PMID:20015054 PMID:20427508 PMID:21525160 PMID:23281139 PMID:23533243 PMID:23796510 PMID:23884777 PMID:24033266 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24728327 PMID:24914079 PMID:25044890 PMID:25219572 PMID:25741868 PMID:25802881 PMID:26633545 PMID:27703483 PMID:28492532 PMID:29059381 PMID:29072892 PMID:29628140 PMID:30349702 PMID:30674755 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...
RGD:11568043 , RGD:11568050 , RGD:11568048 , RGD:11568044
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Stx16
syntaxin 16
ISO
ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B
OMIM ClinVar
PMID:14561710 PMID:15579741 PMID:15800843 PMID:25741868 PMID:28492532
NCBI chr 3:162,853,764...162,882,489
Ensembl chr 3:162,853,782...162,882,489
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: PHP IC | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1C
OMIM ClinVar
PMID:1505964 PMID:8702665 PMID:9876352 PMID:11092390 PMID:11600516 PMID:11784876 PMID:11788646 PMID:12024004 PMID:12621129 PMID:12970262 PMID:15711092 PMID:18553568 PMID:18796523 PMID:20427508 PMID:21488135 PMID:21525160 PMID:23281139 PMID:23533243 PMID:23796510 PMID:24033266 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24651309 PMID:24728327 PMID:25044890 PMID:25219572 PMID:25741868 PMID:25802881 PMID:26633545 PMID:27703483 PMID:28492532 PMID:29059381 PMID:29072892 PMID:30349702 PMID:30674755 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 More...
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Gnas
GNAS complex locus
ISO ISS
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
OMIM ClinVar MouseDO CTD
PMID:219790 PMID:1505964 PMID:2122458 PMID:7853365 PMID:8702665 PMID:9506752 PMID:9727013 PMID:9876352 PMID:10487696 PMID:11092390 PMID:11095461 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:12624854 PMID:15711092 PMID:16199547 PMID:18553568 PMID:18796523 PMID:20427508 PMID:21274345 PMID:21525160 PMID:23281139 PMID:23533243 PMID:23796510 PMID:23884777 PMID:24033266 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24728327 PMID:25044890 PMID:25219572 PMID:25594858 PMID:25741868 PMID:25802881 PMID:26633545 PMID:27703483 PMID:28296742 PMID:28492532 PMID:28708303 PMID:29059381 PMID:29072892 PMID:29095814 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 More...
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Slc34a2
solute carrier family 34 member 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PULMONARY ALVEOLAR MICROLITHIASIS
OMIM CTD ClinVar
PMID:11287838 PMID:16960801 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr14:57,910,931...57,930,236
Ensembl chr14:57,910,480...57,930,436
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Fam20c
FAM20C, golgi associated secretory pathway kinase
ISO
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)
OMIM ClinVar CTD RGD
PMID:2020859 PMID:12868469 PMID:14564151 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...
RGD:11560486
NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
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Farsb
phenylalanyl-tRNA synthetase subunit beta
ISO
ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications
ClinVar
PMID:19161147 PMID:25741868 PMID:28492532 PMID:29573043 PMID:29979980 PMID:30014610 PMID:35937029 More...
NCBI chr 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045
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Farsb
phenylalanyl-tRNA synthetase subunit beta
ISO
ClinVar Annotator: match by term: FARSB-related condition | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:28492532 PMID:29979980
NCBI chr 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045
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Farsa
phenylalanyl-tRNA synthetase subunit alpha
ISO
ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 2
OMIM ClinVar
PMID:25741868 PMID:31355908 PMID:33598926 PMID:35132614 PMID:35918773
NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980
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Cldn16
claudin 16
ISO
ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement
ClinVar
NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588
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Cldn19
claudin 19
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement
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...
NCBI chr 5:132,862,939...132,870,364
Ensembl chr 5:132,863,267...132,868,227
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Egf
epidermal growth factor
ISO
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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Pth
parathyroid hormone
ISO
associated with Kidney Failure, Chronic; protein:decreased expression:serum (human)
RGD
PMID:18480316
RGD:7242687
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Casr
calcium-sensing receptor
ISO
RGD
PMID:12671052
RGD:734698
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO ISS
vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S CTD Direct Evidence: marker/mechanism
MouseDO CTD RGD
PMID:16494812 PMID:9486994 PMID:11416220
RGD:1600874 , RGD:734871
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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Fam20c
FAM20C, golgi associated secretory pathway kinase
ISS
OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785
MouseDO
NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
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Pth
parathyroid hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10375030
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Pth1r
parathyroid hormone 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10375030
NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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Vdr
vitamin D receptor
ISO ISS
VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human) CTD Direct Evidence: marker/mechanism
MouseDO CTD RGD
PMID:1338926 PMID:17451081 PMID:22466564 PMID:2849209
RGD:1624354
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO ISS
ClinVar Annotator: match by term: SHORT syndrome OMIM:269880 CTD Direct Evidence: marker/mechanism
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:24459181 PMID:24728327 PMID:24886349 PMID:25133428 PMID:25157968 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 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:32499645 PMID:34008892 PMID:34307262 PMID:34922003 More...
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Ifih1
interferon induced with helicase C domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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Ifih1
interferon induced with helicase C domain 1
ISO
ClinVar Annotator: match by term: Singleton-Merten syndrome 1
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25620204 PMID:25741868 PMID:26284909 PMID:26833990 PMID:27477329 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:33440462 PMID:34185153 PMID:34539730 PMID:35754802 More...
NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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Rig1
RNA sensor RIG-1
ISO
ClinVar Annotator: match by term: Singleton-Merten syndrome 2
OMIM ClinVar
PMID:25620203 PMID:25741868 PMID:28180316 PMID:28492532
NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819
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Akap5
A-kinase anchoring protein 5
IEP
mRNA:increased expression:dentate gyrus (rat)
RGD
PMID:12542670
RGD:2313247
NCBI chr 6:95,051,527...95,061,075
Ensembl chr 6:95,051,537...95,061,578
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Cnnm2
cyclin and CBS domain divalent metal cation transport mediator 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23027747
NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
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Spink1
serine peptidase inhibitor, Kazal type 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Tropical calcific pancreatitis
CTD OMIM ClinVar
PMID:10691414 PMID:10835640 PMID:11265669 PMID:11950815 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:21303407 PMID:21375584 PMID:21610753 PMID:22427236 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:28546062 PMID:28556356 PMID:28609377 PMID:28687971 PMID:28984793 PMID:29521951 PMID:31401021 PMID:34828289 More...
NCBI chr18:35,870,723...35,882,693
Ensembl chr18:35,824,550...35,882,642
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Ager
advanced glycosylation end product-specific receptor
disease_progression
ISO
associated with Renal Insufficiency, Chronic; protein:decreased expression:serum (human) associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (mouse)
RGD
PMID:21643645 PMID:22305260 PMID:21099228
RGD:7243940 , RGD:7245562 , RGD:7243959
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Cd40
CD40 molecule
ISO
associated with Coronary Artery Disease
RGD
PMID:16494885
RGD:7248436
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
ISO
associated with Coronary Artery Disease
RGD
PMID:16494885
RGD:7248436
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23223575
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Gpx3
glutathione peroxidase 3
treatment
IEP
associated with obesity
RGD
PMID:24370590
RGD:401827910
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Kl
Klotho
ISO
RGD
PMID:21115613
RGD:10403077
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Mgp
matrix Gla protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21705322
NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
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Mthfr
methylenetetrahydrofolate reductase
severity
ISO
DNA:transition:cds:g.677C>T (human)
RGD
PMID:21394321
RGD:6893475
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Pla2g7
phospholipase A2 group VII
ISO
DNA:SNPs:cds, intron:multiple
RGD
PMID:22340269
RGD:6482770
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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Pth
parathyroid hormone
disease_progression
IDA IEP
associated with Kidney Failure, Chronic protein:increased expression:serum (rat)
RGD
PMID:23486515 PMID:22634235
RGD:7242416 , RGD:7242900
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
ClinVar Annotator: match by term: Vitamin D-dependent rickets
ClinVar
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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Vdr
vitamin D receptor
ISO
ClinVar Annotator: match by term: Vitamin D-dependent rickets
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
treatment
ISO IMP
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
OMIM ClinVar CTD RGD
PMID:9415400 PMID:9486994 PMID:9837822 PMID:10518789 PMID:10566658 PMID:11737215 PMID:12050193 PMID:17488797 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:25741868 PMID:27287609 PMID:28492532 PMID:30282619 PMID:31261480 PMID:32932410 PMID:35279323 PMID:35738466 PMID:36321535 PMID:36561972 PMID:32231239 More...
RGD:32716373
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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Cyp27b1em1Thka
cytochrome P450, family 27, subfamily b, polypeptide 1; CRISPR/Cas9 induced mutant 1, Thka
treatment
IMP
RGD
PMID:32231239
RGD:32716373
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Cyp2r1
cytochrome P450, family 2, subfamily r, polypeptide 1
ISO
ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1
ClinVar
PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:25741868 PMID:25942481 PMID:28492532 PMID:28548312 PMID:32115644 More...
NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759
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Cyp2r1
cytochrome P450, family 2, subfamily r, polypeptide 1
ISO
ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1B | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:22855339 PMID:25741868 PMID:25942481 PMID:27716192 PMID:28492532 PMID:28548312 PMID:32115644 PMID:33715104 More...
NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759
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Phyh
phytanoyl-CoA 2-hydroxylase
ISO
ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL
ClinVar
PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 PMID:28492532 More...
NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
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Prss1
serine protease 1
ISO
ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A
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...
NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792
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Vdr
vitamin D receptor
treatment
ISO IMP
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: 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:
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:9360557 PMID:9495519 PMID:9536098 PMID:10204116 PMID:10707958 PMID:11564167 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:25741868 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26787776 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28492532 PMID:28620554 PMID:29949513 PMID:31557081 PMID:35738466 PMID:32231239 PMID:24693968 PMID:24859502 PMID:25201466 PMID:24246681 PMID:9275211 More...
RGD:32716373 , RGD:13432060 , RGD:13210792 , RGD:13210780 , RGD:13210778 , RGD:8158074
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Vdrem1Thka
vitamin D receptor; CRISPR/Cas9 induced mutant 1, Thka
treatment
IMP
RGD
PMID:32231239
RGD:32716373
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Vdrem2Thka
vitamin D receptor; CRISPR/Cas9 induced mutant 2, Thka
treatment
IMP
compared to untreated vdr KO
RGD
PMID:32231239
RGD:32716373
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Cyp3a2
cytochrome P450, family 3, subfamily a, polypeptide 2
ISO
ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 3
OMIM ClinVar
PMID:29461981
NCBI chr12:9,207,978...9,230,064
Ensembl chr12:9,015,383...9,285,008
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Bglap
bone gamma-carboxyglutamate protein
ISO
mRNA:increased expression:long bone
RGD
PMID:22573557
RGD:7207229
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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Fam20c
FAM20C, golgi associated secretory pathway kinase
ISO
mRNA:increased expression:long bone, osteoblast, osteocyte (mouse)
RGD
PMID:24710520
RGD:11560488
NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
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Phex
phosphate regulating endopeptidase X-linked
ISO ISS
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:
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:11004247 PMID:11468271 PMID:11502821 PMID:11502829 PMID:12414858 PMID:12727977 PMID:14564066 PMID:14564077 PMID:16055933 PMID:16199547 PMID:16303832 PMID:16636593 PMID:17576681 PMID:18162710 PMID:18252791 PMID:18625346 PMID:19219621 PMID:19513579 PMID:21050253 PMID:21902834 PMID:21994957 PMID:22101457 PMID:22261628 PMID:22527485 PMID:22577109 PMID:22695891 PMID:23079138 PMID:23466123 PMID:23813354 PMID:24033266 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:29393334 PMID:29460029 PMID:29505567 PMID:29858904 PMID:29901142 PMID:30298485 PMID:30298486 PMID:30607568 PMID:30682568 PMID:30920082 PMID:31102713 PMID:31910300 PMID:32257293 PMID:32329911 PMID:32619592 PMID:32772199 PMID:33639975 PMID:33666701 PMID:34006472 PMID:34141703 PMID:34434907 PMID:34633109 PMID:34806794 PMID:35738466 PMID:35896147 PMID:36530187 PMID:36672821 PMID:22573557 PMID:9063736 PMID:9106524 PMID:7550339 More...
RGD:7207229 , RGD:11556248 , RGD:11556247 , RGD:11556246
NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469
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Clcn5
chloride voltage-gated channel 5
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive
OMIM ClinVar
PMID:7915957 PMID:8559248 PMID:9187673 PMID:9734595 PMID:11136179 PMID:15086899 PMID:15719255 PMID:15895257 PMID:16822791 PMID:18038239 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:27889724 PMID:28492532 PMID:28580211 PMID:31672324 PMID:32683654 More...
NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
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