|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
Pla2g6 |
phospholipase A2 group VI |
|
ISO ISS |
DNA:deletions, missense mutations, nonsense mutation: exon:multiple CTD Direct Evidence: marker/mechanism OMIM:256600 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 CTD MouseDO ClinVar 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...
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RGD:12910703 |
NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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...
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NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606
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