Term: | Localized skin lesion |
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Accession: | HP:0011355
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browse the term
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Definition: | A lesion of the skin that is located in a specific region rather than being generalized. |
Synonyms: | exact_synonym: | Localised skin lesion |
| xref: | UMLS:C0850826 |
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ABCC6 |
ATP binding cassette subfamily C member 6 |
no_association |
IAGP |
DNA:mutations:exon, intron:multiple DNA:mutations:multiple DNA:SNPs:promoter:c.-127C>T, c.-132C>T DNA:nonsense mutation:exon:p.R1141X (3421C>T) |
RGD |
PMID:17617515 PMID:16835894 PMID:16835894 PMID:12714611 |
RGD:11038781, RGD:11038786, RGD:11038786, RGD:11038782 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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ACE |
angiotensin I converting enzyme |
no_association |
IAGP |
DNA:deletion:intron:IVS16+1464-1751del |
RGD |
PMID:15045629 |
RGD:8142349 |
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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COL17A1 |
collagen type XVII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:79406 |
NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
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COL7A1 |
collagen type VII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:79409 ORPHA:79410 |
NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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COMT |
catechol-O-methyltransferase |
severity |
IAGP |
DNA:missense mutation:cds: (rs4680) |
RGD |
PMID:20184498 |
RGD:8662334 |
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
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FLNA |
filamin A |
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IAGP |
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HPO |
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MIM:300244 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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GLMN |
glomulin, FKBP associated protein |
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IAGP |
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HPO |
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ORPHA:83454 |
NCBI chr 1:92,246,402...92,370,844
Ensembl chr 1:92,246,402...92,298,987
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GNA14 |
G protein subunit alpha 14 |
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IAGP |
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HPO |
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ORPHA:1063 |
NCBI chr 9:77,423,079...77,648,322
Ensembl chr 9:77,423,079...77,648,322
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HLA-B |
major histocompatibility complex, class I, B |
susceptibility |
IAGP |
DNA:polymorphism:cds:HLA-B*5801 (Japanese) DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 |
RGD |
PMID:19018717 PMID:23692434 |
RGD:7364874, RGD:7365090 |
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
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IDS |
iduronate 2-sulfatase |
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IAGP |
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HPO |
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ORPHA:217085 ORPHA:217093 |
NCBI chr X:149,476,988...149,505,306
Ensembl chr X:149,476,988...149,521,096
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IL13 |
interleukin 13 |
susceptibility |
IAGP |
DNA:missense mutation:cds: (rs20541) |
RGD |
PMID:23617596 |
RGD:8549593 |
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
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MMP14 |
matrix metallopeptidase 14 |
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IAGP |
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HPO |
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ORPHA:371428 |
NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041
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MMP2 |
matrix metallopeptidase 2 |
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IAGP |
DNA:SNPs, haplotype:promoter:multiple |
HPO RGD |
PMID:20541540 |
ORPHA:371428, RGD:8657064 |
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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NOD2 |
nucleotide binding oligomerization domain containing 2 |
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IAGP |
associated with PFAPA Syndrome; |
RGD |
PMID:21914217 |
RGD:13204855 |
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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NOS3 |
nitric oxide synthase 3 |
susceptibility |
IAGP |
DNA:snp:cds:p.E298D |
RGD |
PMID:11908569 |
RGD:7771576 |
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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PPOX |
protoporphyrinogen oxidase |
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IAGP |
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HPO |
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ORPHA:79473 |
NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013
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CCT5 |
chaperonin containing TCP1 subunit 5 |
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IAGP |
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HPO |
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MIM:256840 ORPHA:139578 |
NCBI chr 5:10,249,921...10,266,412
Ensembl chr 5:10,249,929...10,266,389
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KIF1A |
kinesin family member 1A |
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IAGP |
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HPO |
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MIM:201300 MIM:614213 |
NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
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MPV17 |
mitochondrial inner membrane protein MPV17 |
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IAGP |
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HPO |
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MIM:256810 |
NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680
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NGF |
nerve growth factor |
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IAGP |
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HPO |
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MIM:608654 |
NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
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NTRK1 |
neurotrophic receptor tyrosine kinase 1 |
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IAGP |
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HPO |
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MIM:256800 |
NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850
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RETREG1 |
reticulophagy regulator 1 |
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IAGP |
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HPO |
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MIM:201300 MIM:613115 |
NCBI chr 5:16,473,053...16,616,997
Ensembl chr 5:16,473,038...16,617,101
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SCN9A |
sodium voltage-gated channel alpha subunit 9 |
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IAGP |
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HPO |
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MIM:201300 |
NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
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SPTLC1 |
serine palmitoyltransferase long chain base subunit 1 |
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IAGP |
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HPO |
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MIM:162400 |
NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413
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WNK1 |
WNK lysine deficient protein kinase 1 |
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IAGP |
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HPO |
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MIM:201300 |
NCBI chr12:752,579...911,452
Ensembl chr12:752,579...911,452
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ATP2A2 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
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IAGP |
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HPO |
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MIM:101900 MIM:124200 ORPHA:218 |
NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093
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LTV1 |
LTV1 ribosome biogenesis factor |
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IAGP |
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HPO |
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MIM:620199 |
NCBI chr 6:143,843,338...143,863,812
Ensembl chr 6:143,843,338...143,863,812
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PTEN |
phosphatase and tensin homolog |
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IAGP |
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HPO |
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MIM:158350 ORPHA:65285 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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LDHA |
lactate dehydrogenase A |
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IAGP |
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HPO |
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ORPHA:284426 |
NCBI chr11:18,394,563...18,408,425
Ensembl chr11:18,394,560...18,408,425
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POMP |
proteasome maturation protein |
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IAGP |
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HPO |
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MIM:618048 |
NCBI chr13:28,659,130...28,678,959
Ensembl chr13:28,659,065...28,678,959
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ADAR |
adenosine deaminase RNA specific |
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IAGP |
ClinVar Annotator: match by term: Aplasia cutis congenita |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30755392 |
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NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
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ARHGAP31 |
Rho GTPase activating protein 31 |
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IAGP |
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HPO |
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ORPHA:974 |
NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714
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ATP6V1B2 |
ATPase H+ transporting V1 subunit B2 |
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IAGP |
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HPO |
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ORPHA:79499 |
NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399
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BMS1 |
BMS1 ribosome biogenesis factor |
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IAGP |
ClinVar Annotator: match by term: Aplasia cutis congenita |
ClinVar HPO |
PMID:23785305 PMID:25741868 |
ORPHA:1114 |
NCBI chr10:42,782,795...42,834,937
Ensembl chr10:42,782,795...42,834,937
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COL17A1 |
collagen type XVII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:251393 ORPHA:79402 |
NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
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COL7A1 |
collagen type VII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:79408 ORPHA:79411 ORPHA:89842 |
NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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COX7B |
cytochrome c oxidase subunit 7B |
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IAGP |
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HPO |
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MIM:300887 |
NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376
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DLL4 |
delta like canonical Notch ligand 4 |
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IAGP |
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HPO |
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ORPHA:1114 ORPHA:974 |
NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
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DOCK6 |
dedicator of cytokinesis 6 |
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IAGP |
DNA:mutations:cds: |
HPO RGD |
PMID:25824905 |
MIM:614219 ORPHA:974, RGD:155791566 |
NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524
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DSP |
desmoplakin |
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IAGP |
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HPO |
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MIM:609638 |
NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
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EOGT |
EGF domain specific O-linked N-acetylglucosamine transferase |
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IAGP |
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HPO |
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MIM:615297 ORPHA:974 |
NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684
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HSPA9 |
heat shock protein family A (Hsp70) member 9 |
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IAGP |
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HPO |
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MIM:616854 |
NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675
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ITGA6 |
integrin subunit alpha 6 |
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IAGP |
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HPO |
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ORPHA:79403 |
NCBI chr 2:172,427,336...172,506,459
Ensembl chr 2:172,234,216...172,506,459
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ITGB4 |
integrin subunit beta 4 |
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IAGP |
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HPO |
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ORPHA:1114 ORPHA:158684 ORPHA:251393 ORPHA:79402 ORPHA:79403 |
NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
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KCTD1 |
potassium channel tetramerization domain containing 1 |
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IAGP |
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HPO |
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MIM:181270 |
NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401
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KRAS |
KRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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MIM:600268 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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KRT14 |
keratin 14 |
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IAGP |
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HPO |
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ORPHA:79396 |
NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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KRT5 |
keratin 5 |
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IAGP |
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HPO |
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ORPHA:79396 |
NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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LAMA3 |
laminin subunit alpha 3 |
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IAGP |
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HPO |
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ORPHA:79402 ORPHA:79404 |
NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
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LAMB3 |
laminin subunit beta 3 |
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IAGP |
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HPO |
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ORPHA:79402 ORPHA:79404 |
NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
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LAMC2 |
laminin subunit gamma 2 |
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IAGP |
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HPO |
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ORPHA:79402 ORPHA:79404 |
NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
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MMP1 |
matrix metallopeptidase 1 |
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IAGP |
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HPO |
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ORPHA:79408 |
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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NOTCH1 |
notch receptor 1 |
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IAGP |
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HPO |
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MIM:616028 ORPHA:974 |
NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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PLEC |
plectin |
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IAGP |
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HPO |
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MIM:612138 ORPHA:1114 ORPHA:158684 |
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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RBPJ |
recombination signal binding protein for immunoglobulin kappa J region |
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IAGP |
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HPO |
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MIM:614814 ORPHA:974 |
NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131
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TAF1 |
TATA-box binding protein associated factor 1 |
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IAGP |
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HPO |
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MIM:300966 |
NCBI chr X:71,366,357...71,530,525
Ensembl chr X:71,366,136...71,532,374
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TFAP2A |
transcription factor AP-2 alpha |
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IAGP |
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HPO |
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MIM:113620 |
NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
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UBA2 |
ubiquitin like modifier activating enzyme 2 |
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IAGP |
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HPO |
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ORPHA:1114 |
NCBI chr19:34,428,381...34,471,251
Ensembl chr19:34,428,352...34,471,251
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ALG9 |
ALG9 alpha-1,2-mannosyltransferase |
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IAGP |
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HPO |
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ORPHA:79328 |
NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
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ALX4 |
ALX homeobox 4 |
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IAGP |
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HPO |
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MIM:609597 ORPHA:60015 |
NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
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CPLX1 |
complexin 1 |
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IAGP |
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HPO |
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MIM:194190 ORPHA:280 |
NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
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CTBP1 |
C-terminal binding protein 1 |
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IAGP |
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HPO |
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MIM:194190 ORPHA:280 |
NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
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DLL4 |
delta like canonical Notch ligand 4 |
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IAGP |
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HPO |
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MIM:616589 |
NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
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FGFRL1 |
fibroblast growth factor receptor like 1 |
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IAGP |
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HPO |
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MIM:194190 |
NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898
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ITGA6 |
integrin subunit alpha 6 |
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IAGP |
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HPO |
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MIM:619817 |
NCBI chr 2:172,427,336...172,506,459
Ensembl chr 2:172,234,216...172,506,459
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ITGB4 |
integrin subunit beta 4 |
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IAGP |
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HPO |
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ORPHA:158684 |
NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
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LETM1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
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IAGP |
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HPO |
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MIM:194190 ORPHA:280 |
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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MSX2 |
msh homeobox 2 |
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IAGP |
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HPO |
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MIM:168500 ORPHA:60015 |
NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896
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NELFA |
negative elongation factor complex member A |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903
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NSD2 |
nuclear receptor binding SET domain protein 2 |
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IAGP |
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HPO |
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MIM:194190 ORPHA:280 |
NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
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PIGG |
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
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PLEC |
plectin |
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IAGP |
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HPO |
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ORPHA:158684 |
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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UBA2 |
ubiquitin like modifier activating enzyme 2 |
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IAGP |
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HPO |
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MIM:619959 |
NCBI chr19:34,428,381...34,471,251
Ensembl chr19:34,428,352...34,471,251
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UBR1 |
ubiquitin protein ligase E3 component n-recognin 1 |
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IAGP |
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HPO |
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MIM:243800 |
NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113
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ARHGAP31 |
Rho GTPase activating protein 31 |
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IAGP |
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HPO |
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MIM:100300 |
NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714
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ITGA6 |
integrin subunit alpha 6 |
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IAGP |
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HPO |
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MIM:619817 |
NCBI chr 2:172,427,336...172,506,459
Ensembl chr 2:172,234,216...172,506,459
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ITGB4 |
integrin subunit beta 4 |
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IAGP |
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HPO |
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MIM:226730 ORPHA:158684 |
NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
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KRT14 |
keratin 14 |
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IAGP |
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HPO |
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ORPHA:79396 ORPHA:89838 |
NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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KRT5 |
keratin 5 |
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IAGP |
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HPO |
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ORPHA:79396 |
NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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PLEC |
plectin |
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IAGP |
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HPO |
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MIM:226730 ORPHA:158684 |
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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ARHGAP31 |
Rho GTPase activating protein 31 |
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IAGP |
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HPO |
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MIM:100300 |
NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714
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BMS1 |
BMS1 ribosome biogenesis factor |
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IAGP |
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HPO |
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MIM:107600 ORPHA:1114 |
NCBI chr10:42,782,795...42,834,937
Ensembl chr10:42,782,795...42,834,937
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CDH1 |
cadherin 1 |
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IAGP |
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HPO |
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MIM:119580 |
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
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DLL4 |
delta like canonical Notch ligand 4 |
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IAGP |
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HPO |
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ORPHA:1114 |
NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
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ITGB4 |
integrin subunit beta 4 |
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IAGP |
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HPO |
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ORPHA:1114 |
NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
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MCTP2 |
multiple C2 and transmembrane domain containing 2 |
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IAGP |
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HPO |
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ORPHA:1596 |
NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952
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PLEC |
plectin |
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IAGP |
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HPO |
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ORPHA:1114 |
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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UBA2 |
ubiquitin like modifier activating enzyme 2 |
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IAGP |
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HPO |
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ORPHA:1114 |
NCBI chr19:34,428,381...34,471,251
Ensembl chr19:34,428,352...34,471,251
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ANTXR2 |
ANTXR cell adhesion molecule 2 |
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IAGP |
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HPO |
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ORPHA:2028 |
NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454
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ARHGAP31 |
Rho GTPase activating protein 31 |
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IAGP |
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HPO |
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ORPHA:974 |
NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714
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ARL6IP6 |
ARF like GTPase 6 interacting protein 6 |
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IAGP |
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HPO |
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ORPHA:1556 |
NCBI chr 2:152,717,648...152,762,396
Ensembl chr 2:152,717,647...152,762,396
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ATM |
ATM serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:100 |
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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CHRNG |
cholinergic receptor nicotinic gamma subunit |
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IAGP |
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HPO |
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ORPHA:2990 |
NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
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COL3A1 |
collagen type III alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:2500 |
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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COX7B |
cytochrome c oxidase subunit 7B |
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IAGP |
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HPO |
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ORPHA:2556 |
NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376
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CTC1 |
CST telomere replication complex component 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058
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DHCR24 |
24-dehydrocholesterol reductase |
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IAGP |
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HPO |
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ORPHA:35107 |
NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
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DKC1 |
dyskerin pseudouridine synthase 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689
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DLL4 |
delta like canonical Notch ligand 4 |
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IAGP |
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HPO |
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ORPHA:974 |
NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
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DOCK6 |
dedicator of cytokinesis 6 |
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IAGP |
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HPO |
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ORPHA:974 |
NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524
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EOGT |
EGF domain specific O-linked N-acetylglucosamine transferase |
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IAGP |
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HPO |
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ORPHA:974 |
NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684
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FBN1 |
fibrillin 1 |
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IAGP |
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HPO |
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ORPHA:2833 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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FERMT1 |
FERM domain containing kindlin 1 |
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IAGP |
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HPO |
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ORPHA:2908 |
NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214
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GNA11 |
G protein subunit alpha 11 |
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IAGP |
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HPO |
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ORPHA:1556 |
NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
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HCCS |
holocytochrome c synthase |
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IAGP |
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HPO |
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ORPHA:2556 |
NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086
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KRAS |
KRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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ORPHA:3339 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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LMNA |
lamin A/C |
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IAGP |
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HPO |
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ORPHA:2348 ORPHA:280365 ORPHA:79474 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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LSS |
lanosterol synthase |
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IAGP |
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HPO |
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ORPHA:1366 |
NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
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MVK |
mevalonate kinase |
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IAGP |
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HPO |
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ORPHA:735 |
NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125
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MYH3 |
myosin heavy chain 3 |
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IAGP |
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HPO |
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ORPHA:2990 |
NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
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NDUFB11 |
NADH:ubiquinone oxidoreductase subunit B11 |
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IAGP |
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HPO |
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ORPHA:2556 |
NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466
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NHP2 |
NHP2 ribonucleoprotein |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894
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NOP10 |
NOP10 ribonucleoprotein |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180
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NOTCH1 |
notch receptor 1 |
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IAGP |
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HPO |
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ORPHA:974 |
NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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NPM1 |
nucleophosmin 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
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PARN |
poly(A)-specific ribonuclease |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
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PEPD |
peptidase D |
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IAGP |
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HPO |
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ORPHA:742 |
NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823
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PLEC |
plectin |
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IAGP |
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HPO |
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ORPHA:257 |
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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PMVK |
phosphomevalonate kinase |
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IAGP |
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HPO |
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ORPHA:735 |
NCBI chr 1:154,924,740...154,942,658
Ensembl chr 1:154,924,740...154,936,719
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PORCN |
porcupine O-acyltransferase |
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IAGP |
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HPO |
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ORPHA:2092 |
NCBI chr X:48,508,992...48,520,814
Ensembl chr X:48,508,959...48,520,814
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PPARG |
peroxisome proliferator activated receptor gamma |
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IAGP |
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HPO |
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ORPHA:79083 |
NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
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PROC |
protein C, inactivator of coagulation factors Va and VIIIa |
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IAGP |
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HPO |
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ORPHA:745 |
NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242
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PROS1 |
protein S |
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IAGP |
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HPO |
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ORPHA:743 |
NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003
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PTDSS1 |
phosphatidylserine synthase 1 |
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IAGP |
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HPO |
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ORPHA:2658 |
NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
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RBPJ |
recombination signal binding protein for immunoglobulin kappa J region |
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IAGP |
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HPO |
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ORPHA:974 |
NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131
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RTEL1 |
regulator of telomere elongation helicase 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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G |
SLC29A3 |
solute carrier family 29 member 3 |
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IAGP |
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HPO |
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ORPHA:1782 |
NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423
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SMARCAD1 |
SNF2 related chromatin remodeling ATPase with DExD box 1 |
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IAGP |
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HPO |
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ORPHA:384 |
NCBI chr 4:94,207,608...94,291,292
Ensembl chr 4:94,207,611...94,291,292
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SMO |
smoothened, frizzled class receptor |
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IAGP |
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HPO |
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ORPHA:1553 |
NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
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TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
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IAGP |
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HPO |
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ORPHA:1782 |
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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TERC |
telomerase RNA component |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047 Ensembl chr 3:169,764,610...169,765,047
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TERT |
telomerase reverse transcriptase |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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G |
TINF2 |
TERF1 interacting nuclear factor 2 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
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TNFRSF11A |
TNF receptor superfamily member 11a |
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IAGP |
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HPO |
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ORPHA:1782 |
NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
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TP63 |
tumor protein p63 |
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IAGP |
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HPO |
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ORPHA:1896 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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TWIST2 |
twist family bHLH transcription factor 2 |
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IAGP |
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HPO |
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ORPHA:1231 ORPHA:1807 |
NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534
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TYMS |
thymidylate synthetase |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
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USB1 |
U6 snRNA biogenesis phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618
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G |
WRAP53 |
WD repeat containing antisense to TP53 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
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WRN |
WRN RecQ like helicase |
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IAGP |
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HPO |
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ORPHA:902 |
NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138
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COX7B |
cytochrome c oxidase subunit 7B |
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IAGP |
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HPO |
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MIM:300887 MIM:309801 |
NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376
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HCCS |
holocytochrome c synthase |
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IAGP |
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HPO |
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MIM:309801 |
NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086
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NDUFB11 |
NADH:ubiquinone oxidoreductase subunit B11 |
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IAGP |
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HPO |
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MIM:300952 MIM:309801 |
NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466
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APOA5 |
apolipoprotein A5 |
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IAGP |
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HPO |
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MIM:145750 |
NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420
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ADA2 |
adenosine deaminase 2 |
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IAGP |
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HPO |
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MIM:182410 |
NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
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G |
ADAMTS2 |
ADAM metallopeptidase with thrombospondin type 1 motif 2 |
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IAGP |
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HPO |
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MIM:225410 |
NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461
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AEBP1 |
AE binding protein 1 |
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IAGP |
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HPO |
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MIM:618000 |
NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562
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G |
B3GALT6 |
beta-1,3-galactosyltransferase 6 |
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IAGP |
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HPO |
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MIM:615349 ORPHA:536467 |
NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
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G |
B4GALT7 |
beta-1,4-galactosyltransferase 7 |
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IAGP |
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HPO |
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MIM:130070 ORPHA:75496 |
NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330
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G |
C1R |
complement C1r |
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IAGP |
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HPO |
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MIM:130080 ORPHA:75392 |
NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
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G |
C1S |
complement C1s |
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IAGP |
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HPO |
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ORPHA:75392 |
NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032
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CARMIL2 |
capping protein regulator and myosin 1 linker 2 |
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IAGP |
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HPO |
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MIM:618131 |
NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569
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G |
CHST14 |
carbohydrate sulfotransferase 14 |
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IAGP |
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HPO |
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MIM:601776 ORPHA:2953 |
NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158
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G |
COL12A1 |
collagen type XII alpha 1 chain |
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IAGP |
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HPO |
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MIM:616471 |
NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267
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G |
COL17A1 |
collagen type XVII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:79402 ORPHA:79406 |
NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
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G |
COL1A1 |
collagen type I alpha 1 chain |
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IAGP |
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HPO |
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MIM:130060 ORPHA:287 |
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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G |
COL1A2 |
collagen type I alpha 2 chain |
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IAGP |
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HPO |
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MIM:225320 MIM:617821 ORPHA:230851 |
NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
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G |
COL3A1 |
collagen type III alpha 1 chain |
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IAGP |
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HPO |
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MIM:618343 |
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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G |
COL5A1 |
collagen type V alpha 1 chain |
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IAGP |
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HPO |
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MIM:619329 ORPHA:287 |
NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
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G |
COL5A2 |
collagen type V alpha 2 chain |
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IAGP |
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HPO |
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MIM:130010 ORPHA:287 |
NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312
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G |
COL7A1 |
collagen type VII alpha 1 chain |
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IAGP |
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HPO |
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MIM:131705 MIM:131750 MIM:131850 MIM:226600 ORPHA:231568 ORPHA:79408 ORPHA:79409 ORPHA:79410 ORPHA:79411 ORPHA:89843 |
NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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G |
DSE |
dermatan sulfate epimerase |
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IAGP |
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HPO |
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MIM:615539 ORPHA:2953 |
NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
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G |
DST |
dystonin |
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IAGP |
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HPO |
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MIM:615425 |
NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830
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G |
FKBP14 |
FKBP prolyl isomerase 14 |
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IAGP |
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HPO |
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MIM:614557 ORPHA:300179 |
NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702
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G |
FLG |
filaggrin |
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IAGP |
ClinVar Annotator: match by term: Thin, atrophic scars |
ClinVar |
PMID:25741868 |
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NCBI chr 1:152,302,165...152,325,239
Ensembl chr 1:152,302,165...152,325,239
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G |
ITGB4 |
integrin subunit beta 4 |
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IAGP |
|
HPO |
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MIM:226730 ORPHA:158684 ORPHA:79402 |
NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
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G |
KRT14 |
keratin 14 |
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IAGP |
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HPO |
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MIM:131760 ORPHA:79396 ORPHA:79400 ORPHA:89838 |
NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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G |
KRT5 |
keratin 5 |
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IAGP |
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HPO |
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MIM:131760 ORPHA:79396 ORPHA:79400 |
NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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G |
LAMA3 |
laminin subunit alpha 3 |
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IAGP |
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HPO |
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MIM:226700 ORPHA:79402 |
NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
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G |
LAMB3 |
laminin subunit beta 3 |
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IAGP |
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HPO |
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MIM:226700 ORPHA:79402 |
NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
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LAMC2 |
laminin subunit gamma 2 |
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IAGP |
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HPO |
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MIM:226700 ORPHA:79402 |
NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
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LRP1 |
LDL receptor related protein 1 |
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IAGP |
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HPO |
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ORPHA:79100 |
NCBI chr12:57,128,483...57,213,361
Ensembl chr12:57,128,483...57,213,361
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MMP1 |
matrix metallopeptidase 1 |
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IAGP |
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HPO |
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MIM:226600 ORPHA:79408 |
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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PLEC |
plectin |
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IAGP |
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HPO |
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MIM:226730 ORPHA:158684 |
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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G |
PLOD1 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
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IAGP |
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HPO |
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ORPHA:1900 |
NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
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SMAD3 |
SMAD family member 3 |
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IAGP |
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HPO |
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MIM:613795 |
NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
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TNXB |
tenascin XB |
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IAGP |
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HPO |
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MIM:606408 |
NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334
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LRP1 |
LDL receptor related protein 1 |
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IAGP |
ClinVar Annotator: match by term: Atrophodermia vermiculata |
ClinVar |
PMID:26142438 |
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NCBI chr12:57,128,483...57,213,361
Ensembl chr12:57,128,483...57,213,361
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NLRP1 |
NLR family pyrin domain containing 1 |
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IAGP |
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HPO |
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MIM:618803 |
NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,415...5,619,424
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BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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MIM:155600 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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CDK4 |
cyclin dependent kinase 4 |
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IAGP |
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HPO |
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MIM:609048 |
NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
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PDE11A |
phosphodiesterase 11A |
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IAGP |
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HPO |
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ORPHA:1359 |
NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339
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G |
PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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IAGP |
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HPO |
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ORPHA:1359 |
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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G |
STK11 |
serine/threonine kinase 11 |
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IAGP |
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HPO |
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MIM:155600 |
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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MIM:155600 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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CDK4 |
cyclin dependent kinase 4 |
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IAGP |
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HPO |
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MIM:609048 |
NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
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G |
STK11 |
serine/threonine kinase 11 |
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IAGP |
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HPO |
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MIM:155600 |
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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AEBP1 |
AE binding protein 1 |
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IAGP |
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HPO |
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MIM:618000 |
NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562
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ATP7A |
ATPase copper transporting alpha |
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IAGP |
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HPO |
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ORPHA:198 ORPHA:565 |
NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395
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G |
B4GALT7 |
beta-1,4-galactosyltransferase 7 |
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IAGP |
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HPO |
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ORPHA:75496 |
NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330
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C1S |
complement C1s |
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IAGP |
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HPO |
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MIM:617174 |
NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032
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G |
COL17A1 |
collagen type XVII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:251393 |
NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
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G |
COL3A1 |
collagen type III alpha 1 chain |
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IAGP |
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HPO |
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MIM:618343 |
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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G |
COL7A1 |
collagen type VII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:231568 ORPHA:79410 ORPHA:89842 |
NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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CPOX |
coproporphyrinogen oxidase |
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IAGP |
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HPO |
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ORPHA:79273 |
NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648
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G |
EPHB4 |
EPH receptor B4 |
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IAGP |
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HPO |
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ORPHA:90186 |
NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
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G |
ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
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IAGP |
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HPO |
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MIM:133540 |
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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G |
ERCC8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
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IAGP |
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HPO |
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MIM:216400 |
NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
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G |
FERMT1 |
FERM domain containing kindlin 1 |
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IAGP |
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HPO |
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ORPHA:2908 |
NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214
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G |
IPO8 |
importin 8 |
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IAGP |
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HPO |
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ORPHA:60030 |
NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
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G |
ITGB4 |
integrin subunit beta 4 |
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IAGP |
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HPO |
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ORPHA:251393 |
NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
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G |
LSS |
lanosterol synthase |
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IAGP |
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HPO |
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ORPHA:1366 |
NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
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G |
NCSTN |
nicastrin |
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IAGP |
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HPO |
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MIM:142690 |
NCBI chr 1:160,343,383...160,358,949
Ensembl chr 1:160,343,294...160,358,952
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G |
NTRK1 |
neurotrophic receptor tyrosine kinase 1 |
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IAGP |
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HPO |
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ORPHA:642 |
NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850
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G |
OCRL |
OCRL inositol polyphosphate-5-phosphatase |
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IAGP |
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HPO |
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ORPHA:534 |
NCBI chr X:129,540,259...129,592,556
Ensembl chr X:129,539,849...129,592,561
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G |
PLOD1 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
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IAGP |
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HPO |
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ORPHA:1900 |
NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
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G |
SMAD2 |
SMAD family member 2 |
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IAGP |
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HPO |
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ORPHA:60030 |
NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
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G |
SMAD3 |
SMAD family member 3 |
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IAGP |
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HPO |
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ORPHA:284984 ORPHA:60030 |
NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
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G |
TFAP2A |
transcription factor AP-2 alpha |
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IAGP |
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HPO |
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MIM:113620 ORPHA:1297 |
NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
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G |
TGFB2 |
transforming growth factor beta 2 |
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IAGP |
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HPO |
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ORPHA:60030 |
NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
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G |
TGFB3 |
transforming growth factor beta 3 |
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IAGP |
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HPO |
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ORPHA:60030 |
NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
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G |
TGFBR1 |
transforming growth factor beta receptor 1 |
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IAGP |
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HPO |
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ORPHA:60030 |
NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192
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G |
TGFBR2 |
transforming growth factor beta receptor 2 |
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IAGP |
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HPO |
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ORPHA:60030 |
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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G |
UROS |
uroporphyrinogen III synthase |
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IAGP |
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HPO |
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MIM:263700 |
NCBI chr10:125,784,980...125,823,258
Ensembl chr10:125,784,980...125,823,288
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G |
ZNF469 |
zinc finger protein 469 |
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IAGP |
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HPO |
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MIM:229200 |
NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757
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G |
ARL6IP6 |
ARF like GTPase 6 interacting protein 6 |
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IAGP |
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HPO |
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ORPHA:1556 |
NCBI chr 2:152,717,648...152,762,396
Ensembl chr 2:152,717,647...152,762,396
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G |
CAMK2A |
calcium/calmodulin dependent protein kinase II alpha |
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IAGP |
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HPO |
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MIM:617798 |
NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,093
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G |
FOCAD |
focadhesin |
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IAGP |
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HPO |
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MIM:619991 |
NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955
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G |
GNA11 |
G protein subunit alpha 11 |
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IAGP |
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HPO |
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ORPHA:1556 |
NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
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G |
HEXB |
hexosaminidase subunit beta |
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IAGP |
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HPO |
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ORPHA:309155 |
NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647
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G |
HRAS |
HRas proto-oncogene, GTPase |
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IAGP |
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HPO |
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ORPHA:2874 |
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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G |
PDE11A |
phosphodiesterase 11A |
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IAGP |
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HPO |
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ORPHA:1359 |
NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339
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G |
PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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IAGP |
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HPO |
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ORPHA:1359 |
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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G |
PUS3 |
pseudouridine synthase 3 |
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IAGP |
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HPO |
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ORPHA:488627 |
NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221
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G |
TASP1 |
taspase 1 |
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IAGP |
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HPO |
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MIM:618950 |
NCBI chr20:13,104,772...13,638,932
Ensembl chr20:13,389,392...13,638,932
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G |
TYRP1 |
tyrosinase related protein 1 |
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IAGP |
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HPO |
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ORPHA:79433 |
NCBI chr 9:12,693,385...12,710,285
Ensembl chr 9:12,685,439...12,710,285
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G |
ABCC9 |
ATP binding cassette subfamily C member 9 |
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IAGP |
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HPO |
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MIM:619719 |
NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543
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G |
ANAPC1 |
anaphase promoting complex subunit 1 |
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IAGP |
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HPO |
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MIM:618625 |
NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690
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G |
APC |
APC regulator of WNT signaling pathway |
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IAGP |
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HPO |
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ORPHA:99818 |
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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G |
ASXL1 |
ASXL transcriptional regulator 1 |
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IAGP |
ClinVar Annotator: match by term: Cafe-au-lait spot |
ClinVar |
PMID:20880116 PMID:21576631 PMID:21881046 PMID:22031865 PMID:22058207 PMID:22489043 PMID:23018865 PMID:23619563 PMID:23690417 PMID:24255920 PMID:24442206 PMID:24458439 PMID:24496303 PMID:24695057 PMID:25596267 PMID:25652455 PMID:25741868 PMID:27276561 PMID:27895058 PMID:30013160 PMID:32581362 More...
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NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
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G |
ATM |
ATM serine/threonine kinase |
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IAGP |
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HPO |
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MIM:208900 |
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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G |
BLM |
BLM RecQ like helicase |
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IAGP |
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HPO |
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MIM:210900 ORPHA:125 |
NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
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G |
BMPR2 |
bone morphogenetic protein receptor type 2 |
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IAGP |
ClinVar Annotator: match by term: Cafe-au-lait spot |
ClinVar |
PMID:12358323 PMID:18321866 PMID:25741868 PMID:28492532 |
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NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
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G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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MIM:163950 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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G |
BRCA2 |
BRCA2 DNA repair associated |
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IAGP |
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HPO |
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MIM:605724 |
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
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G |
BUB1 |
BUB1 mitotic checkpoint serine/threonine kinase |
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IAGP |
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HPO |
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MIM:620183 |
NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063
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G |
CAPRIN1 |
cell cycle associated protein 1 |
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IAGP |
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HPO |
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MIM:620782 |
NCBI chr11:34,051,731...34,102,610
Ensembl chr11:34,051,731...34,102,610
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G |
CBL |
Cbl proto-oncogene |
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IAGP |
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HPO |
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MIM:613563 |
NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
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G |
CDKN1C |
cyclin dependent kinase inhibitor 1C |
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IAGP |
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HPO |
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ORPHA:397590 |
NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
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G |
CEP57 |
centrosomal protein 57 |
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IAGP |
|
HPO |
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MIM:614114 |
NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693
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G |
CLCN7 |
chloride voltage-gated channel 7 |
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IAGP |
|
HPO |
|
MIM:618541 |
NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
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G |
COPB1 |
COPI coat complex subunit beta 1 |
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IAGP |
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HPO |
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MIM:619255 |
NCBI chr11:14,457,512...14,499,811
Ensembl chr11:14,443,440...14,500,027
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G |
CREBBP |
CREB binding protein |
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IAGP |
|
HPO |
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MIM:180849 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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G |
CWC27 |
CWC27 spliceosome associated cyclophilin |
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IAGP |
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HPO |
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MIM:250410 ORPHA:166035 |
NCBI chr 5:64,768,918...65,018,763
Ensembl chr 5:64,766,368...65,102,412
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G |
DHX30 |
DExH-box helicase 30 |
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IAGP |
|
HPO |
|
MIM:617804 |
NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,909...47,850,195
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G |
EP300 |
E1A binding protein p300 |
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IAGP |
|
HPO |
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MIM:180849 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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G |
ESCO2 |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
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IAGP |
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HPO |
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MIM:268300 |
NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
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G |
FANCA |
FA complementation group A |
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IAGP |
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HPO |
|
MIM:227650 |
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
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G |
FANCC |
FA complementation group C |
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IAGP |
|
HPO |
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MIM:227645 |
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
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G |
FANCD2 |
FA complementation group D2 |
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IAGP |
|
HPO |
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MIM:227646 |
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
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G |
FANCE |
FA complementation group E |
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IAGP |
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HPO |
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MIM:600901 |
NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
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G |
FANCF |
FA complementation group F |
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IAGP |
|
HPO |
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MIM:603467 |
NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
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G |
FANCI |
FA complementation group I |
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IAGP |
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HPO |
|
MIM:609053 |
NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
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G |
FANCL |
FA complementation group L |
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IAGP |
|
HPO |
|
MIM:614083 |
NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
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G |
H19-ICR |
H19/IGF2 imprinting control region |
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IAGP |
|
HPO |
|
MIM:180860 |
NCBI chr11:1,998,202...2,003,509
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G |
H4C5 |
H4 clustered histone 5 |
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IAGP |
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HPO |
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MIM:619950 |
NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021
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HEPACAM |
hepatic and glial cell adhesion molecule |
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IAGP |
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HPO |
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ORPHA:210548 |
NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412
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G |
HMGA2 |
high mobility group AT-hook 2 |
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IAGP |
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HPO |
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ORPHA:397590 |
NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291
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G |
IFNG |
interferon gamma |
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IAGP |
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HPO |
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MIM:613254 |
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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G |
IGF1 |
insulin like growth factor 1 |
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IAGP |
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HPO |
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ORPHA:73272 |
NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
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G |
IGF2 |
insulin like growth factor 2 |
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IAGP |
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HPO |
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MIM:180860 ORPHA:397590 |
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
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G |
IRF1 |
interferon regulatory factor 1 |
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IAGP |
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HPO |
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MIM:620668 |
NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719
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G |
KANSL1 |
KAT8 regulatory NSL complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:363958 ORPHA:363965 |
NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
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G |
KDM6A |
lysine demethylase 6A |
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IAGP |
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HPO |
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MIM:147920 |
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
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G |
KDM6B |
lysine demethylase 6B |
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IAGP |
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HPO |
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MIM:618505 |
NCBI chr17:7,834,217...7,854,796
Ensembl chr17:7,834,217...7,854,796
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G |
KITLG |
KIT ligand |
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IAGP |
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HPO |
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MIM:145250 MIM:619947 |
NCBI chr12:88,492,793...88,580,471
Ensembl chr12:88,492,793...88,580,851
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G |
KMT2D |
lysine methyltransferase 2D |
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IAGP |
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HPO |
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MIM:147920 |
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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G |
LZTR1 |
leucine zipper like post translational regulator 1 |
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IAGP |
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HPO |
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MIM:605275 MIM:616564 |
NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
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G |
MAP2K1 |
mitogen-activated protein kinase kinase 1 |
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IAGP |
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HPO |
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MIM:163950 |
NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
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G |
MAP2K2 |
mitogen-activated protein kinase kinase 2 |
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IAGP |
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HPO |
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MIM:615280 |
NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122
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G |
MAPK1 |
mitogen-activated protein kinase 1 |
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IAGP |
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HPO |
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MIM:619087 |
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
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G |
MAX |
MYC associated factor X |
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IAGP |
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HPO |
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MIM:171300 |
NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695
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G |
MED12 |
mediator complex subunit 12 |
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IAGP |
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HPO |
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MIM:300895 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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G |
MEN1 |
menin 1 |
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IAGP |
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HPO |
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MIM:131100 |
NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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G |
MTOR |
mechanistic target of rapamycin kinase |
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IAGP |
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HPO |
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MIM:616638 ORPHA:457485 |
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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G |
NBN |
nibrin |
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IAGP |
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HPO |
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MIM:251260 |
NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228
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G |
NF1 |
neurofibromin 1 |
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IAGP |
ClinVar Annotator: match by term: Cafe-au-lait spots |
ClinVar HPO |
PMID:9536098 PMID:10607834 PMID:10712197 PMID:12112660 PMID:12807981 PMID:16199547 PMID:16835897 PMID:16944272 PMID:17576681 PMID:17668375 PMID:18546366 PMID:19738042 PMID:21520333 PMID:22155606 PMID:22190595 PMID:23404336 PMID:23656349 PMID:23913538 PMID:25324867 PMID:25325900 PMID:25541118 PMID:25741868 PMID:26467025 PMID:26908603 PMID:26973730 PMID:27171602 PMID:27482814 PMID:28492532 PMID:29522274 PMID:31717729 PMID:32126153 PMID:32581362 PMID:33372952 PMID:33471991 PMID:34080803 More...
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MIM:162210 ORPHA:363700 |
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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G |
NF2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
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IAGP |
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HPO |
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MIM:101000 |
NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598
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G |
NRAS |
NRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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MIM:613224 |
NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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G |
PALB2 |
partner and localizer of BRCA2 |
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IAGP |
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HPO |
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MIM:610832 |
NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
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G |
PCNT |
pericentrin |
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IAGP |
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HPO |
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MIM:210720 |
NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
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G |
PHIP |
pleckstrin homology domain interacting protein |
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IAGP |
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HPO |
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MIM:617991 ORPHA:589905 |
NCBI chr 6:78,934,419...79,078,254
Ensembl chr 6:78,934,419...79,078,287
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G |
PLAG1 |
PLAG1 zinc finger |
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IAGP |
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HPO |
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ORPHA:397590 |
NCBI chr 8:56,160,909...56,211,273
Ensembl chr 8:56,160,909...56,211,324
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G |
POLE |
DNA polymerase epsilon, catalytic subunit |
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IAGP |
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HPO |
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MIM:618336 |
NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376
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G |
PPP1CB |
protein phosphatase 1 catalytic subunit beta |
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IAGP |
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HPO |
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MIM:617506 |
NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940
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G |
PTEN |
phosphatase and tensin homolog |
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IAGP |
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HPO |
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ORPHA:210548 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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IAGP |
ClinVar Annotator: match by term: Cafe-au-lait spot |
ClinVar HPO |
PMID:11992261 PMID:15121796 PMID:17339163 PMID:17875892 PMID:18241070 PMID:20301557 PMID:21533187 PMID:24033266 PMID:24935154 PMID:25741868 PMID:28492532 More...
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MIM:151100 MIM:163950 |
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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G |
RAF1 |
Raf-1 proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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MIM:611553 MIM:611554 |
NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
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G |
RET |
ret proto-oncogene |
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IAGP |
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HPO |
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MIM:171300 |
NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
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G |
SETBP1 |
SET binding protein 1 |
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IAGP |
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HPO |
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ORPHA:436151 |
NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
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G |
SH3PXD2B |
SH3 and PX domains 2B |
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IAGP |
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HPO |
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MIM:249420 |
NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525
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G |
SHOC2 |
SHOC2 leucine rich repeat scaffold protein |
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IAGP |
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HPO |
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MIM:607721 |
NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307
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G |
SKIC2 |
SKI2 subunit of superkiller complex |
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IAGP |
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HPO |
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ORPHA:84064 |
NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818
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G |
SKIC3 |
SKI3 subunit of superkiller complex |
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IAGP |
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HPO |
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MIM:222470 ORPHA:84064 |
NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050
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G |
SLC9A1 |
solute carrier family 9 member A1 |
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IAGP |
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HPO |
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MIM:616291 |
NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981
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G |
SLF2 |
SMC5-SMC6 complex localization factor 2 |
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IAGP |
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HPO |
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MIM:620184 |
NCBI chr10:100,912,963...100,965,134
Ensembl chr10:100,912,963...100,965,134
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G |
SLX4 |
SLX4 structure-specific endonuclease subunit |
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IAGP |
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HPO |
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MIM:613951 |
NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
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G |
SMARCA2 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 |
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IAGP |
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HPO |
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MIM:601358 |
NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624
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G |
SOX10 |
SRY-box transcription factor 10 |
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IAGP |
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HPO |
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MIM:611584 |
NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
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G |
SPRED1 |
sprouty related EVH1 domain containing 1 |
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IAGP |
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HPO |
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MIM:611431 |
NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249
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G |
STEAP3 |
STEAP3 metalloreductase |
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IAGP |
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HPO |
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MIM:615234 ORPHA:300298 |
NCBI chr 2:119,223,834...119,265,652
Ensembl chr 2:119,223,831...119,265,652
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G |
TAF4 |
TATA-box binding protein associated factor 4 |
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IAGP |
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HPO |
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MIM:620450 |
NCBI chr20:61,974,798...62,065,881
Ensembl chr20:61,953,469...62,065,881
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G |
TMEM127 |
transmembrane protein 127 |
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IAGP |
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HPO |
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MIM:171300 |
NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,500...96,266,047
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G |
TNFRSF13B |
TNF receptor superfamily member 13B |
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IAGP |
ClinVar Annotator: match by term: Cafe-au-lait spot |
ClinVar |
PMID:17464555 PMID:20652909 PMID:25741868 PMID:28492532 PMID:33859323 PMID:34441032 More...
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NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
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G |
TOMM7 |
translocase of outer mitochondrial membrane 7 |
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IAGP |
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HPO |
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MIM:620601 |
NCBI chr 7:22,812,974...22,822,849
Ensembl chr 7:22,812,628...22,822,849
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G |
TOP3A |
DNA topoisomerase III alpha |
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IAGP |
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HPO |
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MIM:618097 |
NCBI chr17:18,271,428...18,314,994
Ensembl chr17:18,271,428...18,315,007
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G |
TSC1 |
TSC complex subunit 1 |
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IAGP |
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HPO |
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MIM:191100 |
NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
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G |
TSC2 |
TSC complex subunit 2 |
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IAGP |
ClinVar Annotator: match by term: Cafe-au-lait spot |
ClinVar HPO |
PMID:25741868 PMID:28492532 PMID:30311386 |
MIM:613254 |
NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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G |
UBAP2L |
ubiquitin associated protein 2 like |
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IAGP |
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HPO |
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MIM:620494 |
NCBI chr 1:154,220,172...154,271,510
Ensembl chr 1:154,220,179...154,271,510
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G |
UBR1 |
ubiquitin protein ligase E3 component n-recognin 1 |
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IAGP |
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HPO |
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MIM:243800 |
NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113
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G |
VHL |
von Hippel-Lindau tumor suppressor |
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IAGP |
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HPO |
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MIM:171300 |
NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676
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G |
WASF1 |
WASP family member 1 |
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IAGP |
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HPO |
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MIM:618707 |
NCBI chr 6:110,099,819...110,179,670
Ensembl chr 6:110,099,819...110,180,004
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G |
WBP11 |
WW domain binding protein 11 |
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IAGP |
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HPO |
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MIM:619227 |
NCBI chr12:14,784,582...14,803,478
Ensembl chr12:14,784,582...14,803,486
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G |
AKT1 |
AKT serine/threonine kinase 1 |
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IAGP |
|
HPO |
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ORPHA:744 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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G |
ASXL2 |
ASXL transcriptional regulator 2 |
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IAGP |
|
HPO |
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MIM:617190 |
NCBI chr 2:25,733,753...25,878,487
Ensembl chr 2:25,733,753...25,878,487
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G |
EIF2AK4 |
eukaryotic translation initiation factor 2 alpha kinase 4 |
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IAGP |
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HPO |
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ORPHA:199241 |
NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
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G |
EPHB4 |
EPH receptor B4 |
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IAGP |
|
HPO |
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MIM:618196 ORPHA:137667 |
NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
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G |
GNA11 |
G protein subunit alpha 11 |
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IAGP |
ClinVar Annotator: match by term: Capillary malformation |
ClinVar |
PMID:25741868 PMID:27476652 |
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NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
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G |
GNAQ |
G protein subunit alpha q |
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IAGP |
ClinVar Annotator: match by term: Capillary malformation |
ClinVar |
PMID:23656586 PMID:25188413 PMID:25741868 |
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NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
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G |
MTOR |
mechanistic target of rapamycin kinase |
|
IAGP |
|
HPO |
|
ORPHA:457485 |
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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G |
NAA10 |
N-alpha-acetyltransferase 10, NatA catalytic subunit |
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IAGP |
|
HPO |
|
MIM:300855 ORPHA:276432 |
NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
ClinVar Annotator: match by term: Capillary malformation |
HPO ClinVar |
PMID:15930273 PMID:17376864 PMID:18074223 PMID:22120714 PMID:22658544 PMID:22949682 PMID:23946963 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 PMID:29446767 PMID:32778138 PMID:34008892 More...
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MIM:612918 ORPHA:140944 ORPHA:314662 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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G |
PTEN |
phosphatase and tensin homolog |
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IAGP |
|
HPO |
|
ORPHA:744 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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G |
RASA1 |
RAS p21 protein activator 1 |
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IAGP |
|
HPO |
|
MIM:608354 ORPHA:137667 ORPHA:90307 |
NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
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G |
STAMBP |
STAM binding protein |
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IAGP |
|
HPO |
|
MIM:614261 |
NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659
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G |
EXTL3 |
exostosin like glycosyltransferase 3 |
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IAGP |
|
HPO |
|
MIM:617425 |
NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561
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G |
COL12A1 |
collagen type XII alpha 1 chain |
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IAGP |
|
HPO |
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ORPHA:610 |
NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267
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G |
COL1A1 |
collagen type I alpha 1 chain |
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IAGP |
|
HPO |
|
ORPHA:287 |
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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G |
COL3A1 |
collagen type III alpha 1 chain |
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IAGP |
|
HPO |
|
MIM:130050 ORPHA:286 |
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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G |
COL5A1 |
collagen type V alpha 1 chain |
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IAGP |
|
HPO |
|
MIM:130000 ORPHA:287 |
NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
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G |
COL5A2 |
collagen type V alpha 2 chain |
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IAGP |
|
HPO |
|
MIM:130010 ORPHA:287 |
NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312
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G |
COL6A1 |
collagen type VI alpha 1 chain |
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IAGP |
|
HPO |
|
ORPHA:610 |
NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
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G |
COL6A2 |
collagen type VI alpha 2 chain |
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IAGP |
|
HPO |
|
ORPHA:610 |
NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
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G |
COL6A3 |
collagen type VI alpha 3 chain |
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IAGP |
|
HPO |
|
ORPHA:610 |
NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
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G |
CTSC |
cathepsin C |
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IAGP |
|
HPO |
|
ORPHA:678 |
NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684
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G |
SLC39A13 |
solute carrier family 39 member 13 |
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IAGP |
|
HPO |
|
MIM:612350 |
NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496
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MAPRE2 |
microtubule associated protein RP/EB family member 2 |
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IAGP |
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HPO |
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MIM:616734 |
NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470
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TUBB |
tubulin beta class I |
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IAGP |
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HPO |
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MIM:156610 |
NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538
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LIPH |
lipase H |
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IAGP |
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HPO |
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MIM:604379 |
NCBI chr 3:185,506,262...185,552,588
Ensembl chr 3:185,506,262...185,552,588
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LPAR6 |
lysophosphatidic acid receptor 6 |
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IAGP |
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HPO |
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MIM:278150 |
NCBI chr13:48,389,571...48,444,669
Ensembl chr13:48,389,567...48,444,704
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LRP1 |
LDL receptor related protein 1 |
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IAGP |
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HPO |
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MIM:604093 |
NCBI chr12:57,128,483...57,213,361
Ensembl chr12:57,128,483...57,213,361
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NEK9 |
NIMA related kinase 9 |
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IAGP |
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HPO |
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ORPHA:64754 |
NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344
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RIPK4 |
receptor interacting serine/threonine kinase 4 |
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IAGP |
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HPO |
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MIM:214350 ORPHA:1401 |
NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
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SIX1 |
SIX homeobox 1 |
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IAGP |
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HPO |
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MIM:608389 |
NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259
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CDKN1A |
cyclin dependent kinase inhibitor 1A |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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CDKN1B |
cyclin dependent kinase inhibitor 1B |
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IAGP |
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HPO |
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ORPHA:276152 ORPHA:652 |
NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
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CDKN2B |
cyclin dependent kinase inhibitor 2B |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
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CDKN2C |
cyclin dependent kinase inhibitor 2C |
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IAGP |
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HPO |
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ORPHA:652 |
NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
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IFNG |
interferon gamma |
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IAGP |
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HPO |
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ORPHA:805 |
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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MEN1 |
menin 1 |
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IAGP |
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HPO |
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MIM:131100 ORPHA:652 |
NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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NONO |
non-POU domain containing octamer binding |
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IAGP |
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HPO |
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ORPHA:466791 |
NCBI chr X:71,283,635...71,301,168
Ensembl chr X:71,254,814...71,301,522
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TSC1 |
TSC complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:805 |
NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
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TSC2 |
TSC complex subunit 2 |
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IAGP |
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HPO |
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ORPHA:805 |
NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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ALK |
ALK receptor tyrosine kinase |
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IAGP |
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HPO |
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ORPHA:626 |
NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586
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BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:626 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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HRAS |
HRas proto-oncogene, GTPase |
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IAGP |
ClinVar Annotator: match by term: Giant pigmented mole ClinVar Annotator: match by term: Congenital giant melanocytic nevus |
ClinVar HPO |
PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17211612 PMID:17384584 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19382114 PMID:19773371 PMID:20301680 PMID:20859122 PMID:20979192 PMID:21403836 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22420426 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:24033266 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25346259 PMID:25741868 PMID:25742471 PMID:26561417 PMID:26619011 PMID:27195699 PMID:27283355 PMID:27589201 PMID:28027064 PMID:28371260 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:32732226 PMID:34958143 PMID:168335863 More...
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MIM:137550 |
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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LRRC56 |
leucine rich repeat containing 56 |
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IAGP |
ClinVar Annotator: match by term: Giant pigmented mole ClinVar Annotator: match by term: Congenital giant melanocytic nevus |
ClinVar |
PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17211612 PMID:17384584 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19382114 PMID:19773371 PMID:20301680 PMID:20859122 PMID:20979192 PMID:21403836 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22420426 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:24033266 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25346259 PMID:25741868 PMID:25742471 PMID:26561417 PMID:26619011 PMID:27195699 PMID:27283355 PMID:27589201 PMID:28027064 PMID:28371260 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:32732226 PMID:34958143 PMID:168335863 More...
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NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
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NRAS |
NRAS proto-oncogene, GTPase |
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IAGP |
ClinVar Annotator: match by term: Congenital giant melanocytic nevus |
ClinVar HPO |
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3102434 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:22962325 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
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MIM:137550 ORPHA:626 |
NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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RAF1 |
Raf-1 proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:626 |
NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
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SOX5 |
SRY-box transcription factor 5 |
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IAGP |
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HPO |
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ORPHA:626 |
NCBI chr12:23,529,504...24,562,650
Ensembl chr12:23,529,504...24,562,544
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ZEB2 |
zinc finger E-box binding homeobox 2 |
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IAGP |
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HPO |
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ORPHA:626 |
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
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BMS1 |
BMS1 ribosome biogenesis factor |
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IAGP |
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HPO |
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ORPHA:1114 |
NCBI chr10:42,782,795...42,834,937
Ensembl chr10:42,782,795...42,834,937
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COL7A1 |
collagen type VII alpha 1 chain |
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IAGP |
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HPO |
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MIM:132000 |
NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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DLL4 |
delta like canonical Notch ligand 4 |
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IAGP |
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HPO |
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ORPHA:1114 |
NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
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ITGB4 |
integrin subunit beta 4 |
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IAGP |
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HPO |
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ORPHA:1114 |
NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
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LAMA3 |
laminin subunit alpha 3 |
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IAGP |
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HPO |
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MIM:226700 |
NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
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LAMB3 |
laminin subunit beta 3 |
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IAGP |
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HPO |
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MIM:226700 |
NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
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LAMC2 |
laminin subunit gamma 2 |
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IAGP |
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HPO |
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MIM:226700 |
NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
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PLEC |
plectin |
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IAGP |
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HPO |
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ORPHA:1114 |
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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UBA2 |
ubiquitin like modifier activating enzyme 2 |
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IAGP |
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HPO |
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ORPHA:1114 |
NCBI chr19:34,428,381...34,471,251
Ensembl chr19:34,428,352...34,471,251
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COL3A1 |
collagen type III alpha 1 chain |
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IAGP |
ClinVar Annotator: match by term: Connective tissue nevi |
ClinVar |
PMID:25741868 |
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NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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LEMD3 |
LEM domain containing 3 |
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IAGP |
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HPO |
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MIM:166700 |
NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
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KRT16 |
keratin 16 |
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IAGP |
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HPO |
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ORPHA:2309 |
NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899
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KRT17 |
keratin 17 |
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IAGP |
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HPO |
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ORPHA:2309 |
NCBI chr17:41,619,442...41,624,575
Ensembl chr17:41,619,442...41,624,842
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KRT6A |
keratin 6A |
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IAGP |
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HPO |
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ORPHA:2309 |
NCBI chr12:52,487,176...52,493,257
Ensembl chr12:52,487,176...52,493,257
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KRT6B |
keratin 6B |
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IAGP |
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HPO |
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ORPHA:2309 |
NCBI chr12:52,446,651...52,452,146
Ensembl chr12:52,446,651...52,452,146
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ADA2 |
adenosine deaminase 2 |
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IAGP |
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HPO |
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ORPHA:820 |
NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
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NOTCH1 |
notch receptor 1 |
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IAGP |
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HPO |
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MIM:616028 |
NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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ACD |
ACD shelterin complex subunit and telomerase recruitment factor |
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IAGP |
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HPO |
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ORPHA:3322 |
NCBI chr16:67,657,512...67,660,260
Ensembl chr16:67,657,512...67,660,810
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ANAPC1 |
anaphase promoting complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:221008 |
NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690
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CHD6 |
chromodomain helicase DNA binding protein 6 |
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IAGP |
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HPO |
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ORPHA:2108 |
NCBI chr20:41,402,083...41,618,377
Ensembl chr20:41,402,083...41,618,384
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COL7A1 |
collagen type VII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:158673 ORPHA:89843 |
NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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COX7B |
cytochrome c oxidase subunit 7B |
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IAGP |
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HPO |
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ORPHA:2556 |
NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376
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DDB2 |
damage specific DNA binding protein 2 |
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IAGP |
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HPO |
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MIM:278740 ORPHA:910 |
NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217
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DHCR24 |
24-dehydrocholesterol reductase |
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IAGP |
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HPO |
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ORPHA:35107 |
NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
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DKC1 |
dyskerin pseudouridine synthase 1 |
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IAGP |
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HPO |
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MIM:305000 ORPHA:3322 |
NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689
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ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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IAGP |
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HPO |
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MIM:278730 ORPHA:220295 ORPHA:910 |
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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ERCC3 |
ERCC excision repair 3, TFIIH core complex helicase subunit |
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IAGP |
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HPO |
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MIM:610651 ORPHA:220295 ORPHA:910 |
NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
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ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
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IAGP |
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HPO |
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MIM:610965 ORPHA:220295 ORPHA:910 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
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ERCC5 |
ERCC excision repair 5, endonuclease |
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IAGP |
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HPO |
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ORPHA:220295 ORPHA:910 |
NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
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ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
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IAGP |
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HPO |
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MIM:133540 MIM:278800 |
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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FERMT1 |
FERM domain containing kindlin 1 |
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IAGP |
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HPO |
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MIM:173650 |
NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214
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HCCS |
holocytochrome c synthase |
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IAGP |
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HPO |
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ORPHA:2556 |
NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086
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KLHL24 |
kelch like family member 24 |
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IAGP |
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HPO |
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MIM:617294 |
NCBI chr 3:183,635,623...183,684,519
Ensembl chr 3:183,635,610...183,684,519
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LMNA |
lamin A/C |
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IAGP |
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HPO |
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MIM:248370 ORPHA:1662 ORPHA:740 ORPHA:90153 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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MGP |
matrix Gla protein |
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IAGP |
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HPO |
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ORPHA:85202 |
NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
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NDUFB11 |
NADH:ubiquinone oxidoreductase subunit B11 |
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IAGP |
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HPO |
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ORPHA:2556 |
NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466
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PARN |
poly(A)-specific ribonuclease |
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IAGP |
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HPO |
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ORPHA:3322 |
NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
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PDGFRB |
platelet derived growth factor receptor beta |
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IAGP |
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HPO |
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MIM:601812 |
NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
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G |
PLEC |
plectin |
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IAGP |
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HPO |
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ORPHA:257 |
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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POLD1 |
DNA polymerase delta 1, catalytic subunit |
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IAGP |
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HPO |
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MIM:615381 |
NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
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POLH |
DNA polymerase eta |
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IAGP |
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HPO |
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MIM:278750 ORPHA:90342 |
NCBI chr 6:43,576,185...43,620,523
Ensembl chr 6:43,576,185...43,620,523
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PORCN |
porcupine O-acyltransferase |
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IAGP |
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HPO |
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MIM:305600 ORPHA:2092 |
NCBI chr X:48,508,992...48,520,814
Ensembl chr X:48,508,959...48,520,814
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RECQL4 |
RecQ like helicase 4 |
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IAGP |
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HPO |
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MIM:218600 MIM:268400 ORPHA:221016 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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RTEL1 |
regulator of telomere elongation helicase 1 |
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IAGP |
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HPO |
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ORPHA:3322 |
NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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G |
SOX18 |
SRY-box transcription factor 18 |
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IAGP |
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HPO |
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ORPHA:69735 |
NCBI chr20:64,047,582...64,049,639
Ensembl chr20:64,047,582...64,049,639
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TERC |
telomerase RNA component |
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IAGP |
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HPO |
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MIM:127550 |
NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047 Ensembl chr 3:169,764,610...169,765,047
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TERT |
telomerase reverse transcriptase |
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IAGP |
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HPO |
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MIM:127550 ORPHA:3322 |
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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G |
TFAP2A |
transcription factor AP-2 alpha |
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IAGP |
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HPO |
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MIM:113620 |
NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
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G |
TINF2 |
TERF1 interacting nuclear factor 2 |
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IAGP |
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HPO |
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MIM:127550 ORPHA:3322 |
NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
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G |
TP63 |
tumor protein p63 |
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IAGP |
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HPO |
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MIM:103285 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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G |
TWIST2 |
twist family bHLH transcription factor 2 |
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IAGP |
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HPO |
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MIM:209885 |
NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534
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G |
USB1 |
U6 snRNA biogenesis phosphodiesterase 1 |
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IAGP |
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HPO |
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MIM:604173 |
NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618
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G |
WRN |
WRN RecQ like helicase |
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IAGP |
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HPO |
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MIM:277700 |
NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138
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G |
XPA |
XPA, DNA damage recognition and repair factor |
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IAGP |
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HPO |
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MIM:278700 ORPHA:910 |
NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340
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G |
XPC |
XPC complex subunit, DNA damage recognition and repair factor |
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IAGP |
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HPO |
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MIM:278720 ORPHA:910 |
NCBI chr 3:14,145,147...14,178,601
Ensembl chr 3:14,145,145...14,178,621
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G |
ZMPSTE24 |
zinc metallopeptidase STE24 |
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IAGP |
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HPO |
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MIM:608612 ORPHA:1662 ORPHA:740 ORPHA:90154 |
NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
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G |
ALX3 |
ALX homeobox 3 |
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IAGP |
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HPO |
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ORPHA:391474 |
NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672
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G |
MNX1 |
motor neuron and pancreas homeobox 1 |
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IAGP |
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HPO |
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ORPHA:1552 |
NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663
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G |
MSX2 |
msh homeobox 2 |
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IAGP |
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HPO |
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MIM:168550 |
NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896
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G |
SYT1 |
synaptotagmin 1 |
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IAGP |
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HPO |
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ORPHA:522077 |
NCBI chr12:78,863,982...79,452,008
Ensembl chr12:78,863,993...79,452,008
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G |
TFAP2A |
transcription factor AP-2 alpha |
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IAGP |
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HPO |
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MIM:113620 |
NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
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G |
VANGL1 |
VANGL planar cell polarity protein 1 |
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IAGP |
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HPO |
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MIM:600145 |
NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224
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G |
ZSWIM6 |
zinc finger SWIM-type containing 6 |
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IAGP |
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HPO |
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ORPHA:1827 |
NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172
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G |
FERMT1 |
FERM domain containing kindlin 1 |
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IAGP |
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HPO |
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MIM:173650 |
NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214
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G |
GSN |
gelsolin |
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IAGP |
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HPO |
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ORPHA:85448 |
NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843
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G |
KRT5 |
keratin 5 |
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IAGP |
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HPO |
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ORPHA:79145 |
NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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G |
POFUT1 |
protein O-fucosyltransferase 1 |
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IAGP |
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HPO |
|
ORPHA:79145 |
NCBI chr20:32,207,880...32,238,658
Ensembl chr20:32,207,855...32,238,658
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G |
POGLUT1 |
protein O-glucosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:79145 |
NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708
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G |
PSENEN |
presenilin enhancer, gamma-secretase subunit |
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IAGP |
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HPO |
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ORPHA:79145 |
NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519
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G |
KRT5 |
keratin 5 |
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IAGP |
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HPO |
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MIM:131960 |
NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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G |
AKT1 |
AKT serine/threonine kinase 1 |
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IAGP |
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HPO |
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MIM:176920 ORPHA:744 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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G |
COL7A1 |
collagen type VII alpha 1 chain |
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IAGP |
ClinVar Annotator: match by term: Epidermal nevus |
ClinVar |
PMID:28492532 |
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NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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G |
FGFR3 |
fibroblast growth factor receptor 3 |
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IAGP |
ClinVar Annotator: match by term: Epidermal nevi ClinVar Annotator: match by term: Epidermal nevus |
ClinVar |
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723106 PMID:8841188 PMID:8845844 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9790257 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10360392 PMID:10361991 PMID:10395236 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12009017 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18198189 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:23149434 PMID:23165795 PMID:24715719 PMID:24728327 PMID:24863959 PMID:25157968 PMID:25271085 PMID:25505835 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25777271 PMID:25809207 PMID:26380986 PMID:26467025 PMID:26619011 PMID:26740388 PMID:26818779 PMID:26887047 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:36135330 PMID:36474027 More...
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NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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G |
HRAS |
HRas proto-oncogene, GTPase |
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IAGP |
ClinVar Annotator: match by term: Epidermal nevi ClinVar Annotator: match by term: Epidermal nevus |
ClinVar |
PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 PMID:8960317 PMID:11150980 PMID:12727991 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:19855393 PMID:20301680 PMID:20660566 PMID:20937837 PMID:20979192 PMID:21403836 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22190897 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25346259 PMID:25741868 PMID:25742471 PMID:25914166 PMID:26467025 PMID:26561417 PMID:26619011 PMID:27195699 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28371260 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33027564 PMID:33372952 PMID:34008892 PMID:168335863 More...
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NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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G |
KRAS |
KRAS proto-oncogene, GTPase |
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IAGP |
ClinVar Annotator: match by term: Epidermal nevus |
HPO ClinVar |
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 PMID:12720172 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:21079152 PMID:21228335 PMID:21975775 PMID:22025163 PMID:22407852 PMID:22499344 PMID:22683711 PMID:23014527 PMID:23096712 PMID:23255105 PMID:23406027 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25741868 PMID:28492532 PMID:29298116 PMID:30443000 PMID:31891627 PMID:35794233 More...
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MIM:600268 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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G |
LEMD3 |
LEM domain containing 3 |
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IAGP |
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HPO |
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MIM:166700 |
NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
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G |
LRRC56 |
leucine rich repeat containing 56 |
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IAGP |
ClinVar Annotator: match by term: Epidermal nevi ClinVar Annotator: match by term: Epidermal nevus |
ClinVar |
PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 PMID:8960317 PMID:11150980 PMID:12727991 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:19855393 PMID:20301680 PMID:20660566 PMID:20937837 PMID:20979192 PMID:21403836 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22190897 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25346259 PMID:25741868 PMID:25742471 PMID:25914166 PMID:26467025 PMID:26561417 PMID:26619011 PMID:27195699 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28371260 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33027564 PMID:33372952 PMID:34008892 PMID:168335863 More...
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NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
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G |
NRAS |
NRAS proto-oncogene, GTPase |
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IAGP |
ClinVar Annotator: match by term: Epidermal nevi ClinVar Annotator: match by term: Epidermal nevus |
ClinVar |
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:12460918 PMID:12727991 PMID:14508525 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17332249 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21163920 PMID:21305640 PMID:21576590 PMID:21586752 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22407852 PMID:22499344 PMID:22761467 PMID:22773810 PMID:23392294 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24284627 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28098151 PMID:28492532 PMID:28594414 PMID:33681212 More...
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NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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G |
NSDHL |
NAD(P) dependent steroid dehydrogenase-like |
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IAGP |
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HPO |
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MIM:308050 |
NCBI chr X:152,831,063...152,869,729
Ensembl chr X:152,830,967...152,869,729
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
ClinVar Annotator: match by term: Epidermal nevi ClinVar Annotator: match by term: Epidermal nevus |
ClinVar HPO |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 PMID:17376864 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19366826 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22729224 PMID:24033266 PMID:24265155 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 PMID:37712948 More...
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MIM:182000 ORPHA:140944 ORPHA:314662 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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G |
PTEN |
phosphatase and tensin homolog |
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IAGP |
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HPO |
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ORPHA:2969 ORPHA:744 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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G |
ANTXR1 |
ANTXR cell adhesion molecule 1 |
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IAGP |
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HPO |
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MIM:230740 |
NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327
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G |
APC |
APC regulator of WNT signaling pathway |
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IAGP |
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HPO |
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MIM:175100 ORPHA:247806 ORPHA:261584 ORPHA:79665 ORPHA:99818 |
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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G |
CDH1 |
cadherin 1 |
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IAGP |
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HPO |
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ORPHA:1997 |
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
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G |
CDH3 |
cadherin 3 |
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IAGP |
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HPO |
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MIM:601553 |
NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468
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G |
CEP57 |
centrosomal protein 57 |
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IAGP |
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HPO |
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MIM:614114 |
NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693
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G |
CTNND1 |
catenin delta 1 |
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IAGP |
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HPO |
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ORPHA:1997 |
NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546
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G |
IFNG |
interferon gamma |
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IAGP |
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HPO |
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ORPHA:805 |
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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G |
KRT16 |
keratin 16 |
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IAGP |
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HPO |
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ORPHA:2309 |
NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899
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G |
KRT17 |
keratin 17 |
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IAGP |
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HPO |
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MIM:167210 ORPHA:2309 |
NCBI chr17:41,619,442...41,624,575
Ensembl chr17:41,619,442...41,624,842
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G |
KRT5 |
keratin 5 |
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IAGP |
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HPO |
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ORPHA:79145 |
NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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G |
KRT6A |
keratin 6A |
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IAGP |
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HPO |
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ORPHA:2309 |
NCBI chr12:52,487,176...52,493,257
Ensembl chr12:52,487,176...52,493,257
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G |
KRT6B |
keratin 6B |
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IAGP |
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HPO |
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ORPHA:2309 |
NCBI chr12:52,446,651...52,452,146
Ensembl chr12:52,446,651...52,452,146
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G |
MNX1 |
motor neuron and pancreas homeobox 1 |
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IAGP |
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HPO |
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ORPHA:1552 |
NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663
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G |
POFUT1 |
protein O-fucosyltransferase 1 |
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IAGP |
|
HPO |
|
ORPHA:79145 |
NCBI chr20:32,207,880...32,238,658
Ensembl chr20:32,207,855...32,238,658
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G |
POGLUT1 |
protein O-glucosyltransferase 1 |
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IAGP |
|
HPO |
|
ORPHA:79145 |
NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708
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G |
PSENEN |
presenilin enhancer, gamma-secretase subunit |
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IAGP |
|
HPO |
|
ORPHA:79145 |
NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519
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G |
TSC1 |
TSC complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:805 |
NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
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G |
TSC2 |
TSC complex subunit 2 |
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IAGP |
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HPO |
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ORPHA:805 |
NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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G |
KRT16 |
keratin 16 |
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IAGP |
|
HPO |
|
ORPHA:2309 |
NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899
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G |
KRT17 |
keratin 17 |
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IAGP |
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HPO |
|
ORPHA:2309 |
NCBI chr17:41,619,442...41,624,575
Ensembl chr17:41,619,442...41,624,842
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G |
KRT6A |
keratin 6A |
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IAGP |
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HPO |
|
ORPHA:2309 |
NCBI chr12:52,487,176...52,493,257
Ensembl chr12:52,487,176...52,493,257
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G |
KRT6B |
keratin 6B |
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IAGP |
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HPO |
|
ORPHA:2309 |
NCBI chr12:52,446,651...52,452,146
Ensembl chr12:52,446,651...52,452,146
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G |
APOC2 |
apolipoprotein C2 |
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IAGP |
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HPO |
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MIM:207750 |
NCBI chr19:44,946,051...44,949,565
Ensembl chr19:44,946,035...44,949,565
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G |
APOE |
apolipoprotein E |
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IAGP |
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HPO |
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ORPHA:412 |
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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G |
GPIHBP1 |
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 |
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IAGP |
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HPO |
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MIM:615947 |
NCBI chr 8:143,213,218...143,217,170
Ensembl chr 8:143,213,218...143,217,170
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G |
LIPC |
lipase C, hepatic type |
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IAGP |
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HPO |
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MIM:614025 ORPHA:140905 |
NCBI chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844
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LPL |
lipoprotein lipase |
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IAGP |
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HPO |
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MIM:238600 |
NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
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PRKCD |
protein kinase C delta |
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IAGP |
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HPO |
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MIM:615559 |
NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
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G |
COL7A1 |
collagen type VII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:79410 |
NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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G |
DCLRE1C |
DNA cross-link repair 1C |
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IAGP |
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HPO |
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MIM:602450 |
NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
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G |
HAVCR2 |
hepatitis A virus cellular receptor 2 |
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IAGP |
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HPO |
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ORPHA:86884 |
NCBI chr 5:157,085,832...157,109,044
Ensembl chr 5:157,085,422...157,142,869
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G |
HLA-B |
major histocompatibility complex, class I, B |
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IAGP |
associated with Inflammatory Bowel Diseases;DNA:polymorphisms:cds:multiple |
RGD |
PMID:12198697 |
RGD:7364926 |
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
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KIT |
KIT proto-oncogene, receptor tyrosine kinase |
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IAGP |
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HPO |
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ORPHA:79455 |
NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
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G |
KRT14 |
keratin 14 |
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IAGP |
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HPO |
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ORPHA:79400 |
NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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G |
KRT5 |
keratin 5 |
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IAGP |
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HPO |
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ORPHA:79145 ORPHA:79400 |
NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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MEFV |
MEFV innate immunity regulator, pyrin |
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IAGP |
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HPO |
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ORPHA:3243 |
NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
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G |
POFUT1 |
protein O-fucosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:79145 |
NCBI chr20:32,207,880...32,238,658
Ensembl chr20:32,207,855...32,238,658
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G |
POGLUT1 |
protein O-glucosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:79145 |
NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708
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G |
PSENEN |
presenilin enhancer, gamma-secretase subunit |
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IAGP |
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HPO |
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ORPHA:79145 |
NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519
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G |
PTPN6 |
protein tyrosine phosphatase non-receptor type 6 |
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IAGP |
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HPO |
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ORPHA:3243 |
NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316
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G |
XPA |
XPA, DNA damage recognition and repair factor |
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IAGP |
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HPO |
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MIM:278700 |
NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340
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G |
AP1S3 |
adaptor related protein complex 1 subunit sigma 3 |
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IAGP |
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HPO |
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ORPHA:247353 |
NCBI chr 2:223,755,326...223,837,582
Ensembl chr 2:223,667,680...223,838,027
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G |
CARD14 |
caspase recruitment domain family member 14 |
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IAGP |
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HPO |
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MIM:173200 |
NCBI chr17:80,170,030...80,209,331
Ensembl chr17:80,169,992...80,216,073
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G |
COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:485 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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G |
COL7A1 |
collagen type VII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:158673 |
NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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G |
EBP |
EBP cholestenol delta-isomerase |
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IAGP |
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HPO |
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ORPHA:35173 |
NCBI chr X:48,521,808...48,528,716
Ensembl chr X:48,521,799...48,528,716
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G |
HAVCR2 |
hepatitis A virus cellular receptor 2 |
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IAGP |
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HPO |
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ORPHA:86884 |
NCBI chr 5:157,085,832...157,109,044
Ensembl chr 5:157,085,422...157,142,869
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G |
IL36RN |
interleukin 36 receptor antagonist |
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IAGP |
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HPO |
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ORPHA:247353 |
NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382
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G |
KRT10 |
keratin 10 |
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IAGP |
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HPO |
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MIM:607602 |
NCBI chr17:40,818,117...40,822,614
Ensembl chr17:40,818,117...40,822,614
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G |
LDHA |
lactate dehydrogenase A |
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IAGP |
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HPO |
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ORPHA:284426 |
NCBI chr11:18,394,563...18,408,425
Ensembl chr11:18,394,560...18,408,425
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G |
MEFV |
MEFV innate immunity regulator, pyrin |
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IAGP |
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HPO |
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ORPHA:3243 |
NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
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G |
MPDU1 |
mannose-P-dolichol utilization defect 1 |
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IAGP |
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HPO |
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ORPHA:79323 |
NCBI chr17:7,583,647...7,588,212
Ensembl chr17:7,583,529...7,592,789
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G |
PTPN6 |
protein tyrosine phosphatase non-receptor type 6 |
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IAGP |
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HPO |
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ORPHA:3243 |
NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316
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G |
RASA1 |
RAS p21 protein activator 1 |
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IAGP |
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HPO |
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ORPHA:90307 |
NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
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G |
SDHD |
succinate dehydrogenase complex subunit D |
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IAGP |
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HPO |
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ORPHA:100093 |
NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
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G |
TRPM4 |
transient receptor potential cation channel subfamily M member 4 |
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IAGP |
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HPO |
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MIM:618531 |
NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
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G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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MIM:613707 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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G |
GNB2 |
G protein subunit beta 2 |
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IAGP |
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HPO |
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MIM:619503 |
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
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G |
RBBP8 |
RB binding protein 8, endonuclease |
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IAGP |
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HPO |
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MIM:606744 |
NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488
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G |
RFX7 |
regulatory factor X7 |
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IAGP |
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HPO |
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MIM:620330 |
NCBI chr15:56,087,280...56,245,082
Ensembl chr15:56,087,280...56,245,082
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G |
SET |
SET nuclear proto-oncogene |
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IAGP |
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HPO |
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MIM:618106 |
NCBI chr 9:128,683,424...128,696,396
Ensembl chr 9:128,683,424...128,696,400
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G |
TRIP13 |
thyroid hormone receptor interactor 13 |
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IAGP |
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HPO |
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MIM:617598 |
NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357
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G |
PORCN |
porcupine O-acyltransferase |
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IAGP |
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HPO |
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MIM:305600 |
NCBI chr X:48,508,992...48,520,814
Ensembl chr X:48,508,959...48,520,814
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G |
AAGAB |
alpha and gamma adaptin binding protein |
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IAGP |
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HPO |
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ORPHA:79501 |
NCBI chr15:67,200,667...67,255,198
Ensembl chr15:67,200,667...67,255,195
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G |
COL14A1 |
collagen type XIV alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:79501 |
NCBI chr 8:120,124,454...120,373,573
Ensembl chr 8:120,059,780...120,373,573
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G |
COL7A1 |
collagen type VII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:79410 |
NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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G |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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MIM:615522 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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G |
GJB2 |
gap junction protein beta 2 |
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IAGP |
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HPO |
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ORPHA:2698 |
NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
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G |
GJB6 |
gap junction protein beta 6 |
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IAGP |
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HPO |
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ORPHA:189 |
NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365
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G |
KRT1 |
keratin 1 |
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IAGP |
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HPO |
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MIM:146590 |
NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407
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G |
KRT14 |
keratin 14 |
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IAGP |
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HPO |
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ORPHA:79397 |
NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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G |
KRT5 |
keratin 5 |
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IAGP |
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HPO |
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ORPHA:79145 ORPHA:79397 |
NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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G |
LRP1 |
LDL receptor related protein 1 |
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IAGP |
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HPO |
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ORPHA:79100 |
NCBI chr12:57,128,483...57,213,361
Ensembl chr12:57,128,483...57,213,361
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G |
POFUT1 |
protein O-fucosyltransferase 1 |
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IAGP |
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HPO |
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MIM:615327 ORPHA:79145 |
NCBI chr20:32,207,880...32,238,658
Ensembl chr20:32,207,855...32,238,658
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G |
POGLUT1 |
protein O-glucosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:79145 |
NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708
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G |
PSENEN |
presenilin enhancer, gamma-secretase subunit |
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IAGP |
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HPO |
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ORPHA:79145 |
NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519
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G |
ABCB6 |
ATP binding cassette subfamily B member 6 (LAN blood group) |
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IAGP |
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HPO |
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MIM:615402 ORPHA:241 |
NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994
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G |
ACP5 |
acid phosphatase 5, tartrate resistant |
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IAGP |
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HPO |
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MIM:607944 |
NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993
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G |
ACTB |
actin beta |
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IAGP |
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HPO |
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ORPHA:64755 |
NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
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G |
ADAR |
adenosine deaminase RNA specific |
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IAGP |
ClinVar Annotator: match by term: Hypermelanotic macule |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30755392 |
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NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
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G |
ANKLE2 |
ankyrin repeat and LEM domain containing 2 |
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IAGP |
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HPO |
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MIM:616681 |
NCBI chr12:132,725,503...132,761,832
Ensembl chr12:132,725,503...132,761,832
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G |
ATP2A2 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
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IAGP |
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HPO |
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MIM:124200 ORPHA:218 |
NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093
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G |
C1R |
complement C1r |
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IAGP |
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HPO |
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ORPHA:75392 |
NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
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G |
C1S |
complement C1s |
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IAGP |
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HPO |
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ORPHA:75392 |
NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032
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G |
CTC1 |
CST telomere replication complex component 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058
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G |
CYBA |
cytochrome b-245 alpha chain |
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IAGP |
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HPO |
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ORPHA:379 |
NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083
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G |
CYBB |
cytochrome b-245 beta chain |
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IAGP |
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HPO |
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ORPHA:379 |
NCBI chr X:37,780,059...37,813,461
Ensembl chr X:37,780,018...37,813,461
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G |
CYBC1 |
cytochrome b-245 chaperone 1 |
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IAGP |
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HPO |
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ORPHA:379 |
NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829
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G |
DDB2 |
damage specific DNA binding protein 2 |
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IAGP |
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HPO |
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ORPHA:910 |
NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217
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G |
DDX11 |
DEAD/H-box helicase 11 |
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IAGP |
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HPO |
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MIM:613398 |
NCBI chr12:31,073,860...31,104,799
Ensembl chr12:31,073,860...31,104,799
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G |
DKC1 |
dyskerin pseudouridine synthase 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689
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G |
ERCC1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
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IAGP |
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HPO |
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ORPHA:90322 |
NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
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G |
ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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IAGP |
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HPO |
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ORPHA:910 |
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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G |
ERCC3 |
ERCC excision repair 3, TFIIH core complex helicase subunit |
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IAGP |
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HPO |
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ORPHA:910 |
NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
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G |
ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
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IAGP |
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HPO |
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ORPHA:90321 ORPHA:910 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
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G |
ERCC5 |
ERCC excision repair 5, endonuclease |
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IAGP |
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HPO |
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ORPHA:910 |
NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
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G |
ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
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IAGP |
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HPO |
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MIM:278800 ORPHA:90321 ORPHA:90322 |
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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G |
ERCC8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
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IAGP |
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HPO |
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ORPHA:90321 ORPHA:90322 |
NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
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G |
FGFR3 |
fibroblast growth factor receptor 3 |
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IAGP |
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HPO |
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ORPHA:53271 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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G |
GJA1 |
gap junction protein alpha 1 |
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IAGP |
|
HPO |
|
ORPHA:317 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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G |
GJB3 |
gap junction protein beta 3 |
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IAGP |
|
HPO |
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ORPHA:317 |
NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369
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G |
GJB4 |
gap junction protein beta 4 |
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IAGP |
|
HPO |
|
ORPHA:317 |
NCBI chr 1:34,759,740...34,762,327
Ensembl chr 1:34,759,740...34,762,327
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G |
GNAQ |
G protein subunit alpha q |
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IAGP |
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HPO |
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ORPHA:624 |
NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
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G |
GNAS |
GNAS complex locus |
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IAGP |
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HPO |
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ORPHA:2762 |
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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G |
GPNMB |
glycoprotein nmb |
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IAGP |
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HPO |
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MIM:617920 |
NCBI chr 7:23,246,775...23,275,108
Ensembl chr 7:23,235,967...23,275,108
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G |
IL6 |
interleukin 6 |
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IAGP |
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HPO |
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MIM:148000 |
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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G |
INSR |
insulin receptor |
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IAGP |
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HPO |
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MIM:246200 |
NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
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G |
KDM6B |
lysine demethylase 6B |
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IAGP |
|
HPO |
|
MIM:618505 |
NCBI chr17:7,834,217...7,854,796
Ensembl chr17:7,834,217...7,854,796
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G |
KDSR |
3-ketodihydrosphingosine reductase |
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IAGP |
|
HPO |
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ORPHA:317 |
NCBI chr18:63,327,726...63,367,206
Ensembl chr18:63,327,726...63,367,228
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G |
KIT |
KIT proto-oncogene, receptor tyrosine kinase |
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IAGP |
|
HPO |
|
MIM:154800 ORPHA:79455 |
NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
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G |
KITLG |
KIT ligand |
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IAGP |
|
HPO |
|
MIM:145250 MIM:619947 |
NCBI chr12:88,492,793...88,580,471
Ensembl chr12:88,492,793...88,580,851
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G |
KRT14 |
keratin 14 |
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IAGP |
|
HPO |
|
ORPHA:79397 ORPHA:79399 |
NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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KRT5 |
keratin 5 |
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IAGP |
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HPO |
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ORPHA:79145 ORPHA:79397 ORPHA:79399 |
NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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LMNA |
lamin A/C |
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IAGP |
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HPO |
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ORPHA:740 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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LZTR1 |
leucine zipper like post translational regulator 1 |
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IAGP |
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HPO |
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MIM:605275 |
NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
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MMP2 |
matrix metallopeptidase 2 |
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IAGP |
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HPO |
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MIM:259600 |
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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NCF1 |
neutrophil cytosolic factor 1 |
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IAGP |
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HPO |
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ORPHA:379 |
NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
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NCF2 |
neutrophil cytosolic factor 2 |
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IAGP |
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HPO |
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ORPHA:379 |
NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905
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NCF4 |
neutrophil cytosolic factor 4 |
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IAGP |
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HPO |
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ORPHA:379 |
NCBI chr22:36,861,006...36,878,015
Ensembl chr22:36,860,988...36,878,017
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NF1 |
neurofibromin 1 |
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IAGP |
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HPO |
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ORPHA:97685 |
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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NHP2 |
NHP2 ribonucleoprotein |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894
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NOP10 |
NOP10 ribonucleoprotein |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180
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NPM1 |
nucleophosmin 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
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PARN |
poly(A)-specific ribonuclease |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
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PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
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HPO |
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ORPHA:60040 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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G |
PLEC |
plectin |
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IAGP |
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HPO |
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ORPHA:79401 |
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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POFUT1 |
protein O-fucosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:79145 |
NCBI chr20:32,207,880...32,238,658
Ensembl chr20:32,207,855...32,238,658
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POGLUT1 |
protein O-glucosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:79145 |
NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708
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PSENEN |
presenilin enhancer, gamma-secretase subunit |
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IAGP |
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HPO |
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ORPHA:79145 |
NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519
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RTEL1 |
regulator of telomere elongation helicase 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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SASH1 |
SAM and SH3 domain containing 1 |
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IAGP |
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HPO |
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MIM:618373 |
NCBI chr 6:148,193,468...148,552,044
Ensembl chr 6:148,272,304...148,552,044
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SMARCAD1 |
SNF2 related chromatin remodeling ATPase with DExD box 1 |
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IAGP |
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HPO |
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MIM:129200 |
NCBI chr 4:94,207,608...94,291,292
Ensembl chr 4:94,207,611...94,291,292
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SMARCAL1 |
SNF2 related chromatin remodeling annealing helicase 1 |
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IAGP |
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HPO |
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MIM:242900 ORPHA:1830 |
NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
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ST3GAL5 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 5 |
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IAGP |
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HPO |
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MIM:609056 |
NCBI chr 2:85,837,120...85,889,034
Ensembl chr 2:85,837,120...85,905,199
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STK11 |
serine/threonine kinase 11 |
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IAGP |
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HPO |
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MIM:175200 |
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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TERC |
telomerase RNA component |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047 Ensembl chr 3:169,764,610...169,765,047
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TERT |
telomerase reverse transcriptase |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TINF2 |
TERF1 interacting nuclear factor 2 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
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TNFRSF1A |
TNF receptor superfamily member 1A |
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IAGP |
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HPO |
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ORPHA:32960 |
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TP53RK |
TP53 regulating kinase |
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IAGP |
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HPO |
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MIM:617730 |
NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444
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TYMS |
thymidylate synthetase |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
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USB1 |
U6 snRNA biogenesis phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618
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WRAP53 |
WD repeat containing antisense to TP53 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
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XPA |
XPA, DNA damage recognition and repair factor |
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IAGP |
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HPO |
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MIM:278700 ORPHA:910 |
NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340
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XPC |
XPC complex subunit, DNA damage recognition and repair factor |
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IAGP |
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HPO |
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ORPHA:910 |
NCBI chr 3:14,145,147...14,178,601
Ensembl chr 3:14,145,145...14,178,621
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ZMPSTE24 |
zinc metallopeptidase STE24 |
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IAGP |
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HPO |
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ORPHA:740 |
NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
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MC1R |
melanocortin 1 receptor |
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IAGP |
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HPO |
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ORPHA:79432 |
NCBI chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973
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OCA2 |
OCA2 melanosomal transmembrane protein |
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IAGP |
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HPO |
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ORPHA:79432 |
NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
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G |
RBM28 |
RNA binding motif protein 28 |
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IAGP |
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HPO |
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ORPHA:157954 |
NCBI chr 7:128,297,685...128,343,908
Ensembl chr 7:128,297,685...128,343,908
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FLNA |
filamin A |
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IAGP |
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HPO |
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ORPHA:88630 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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G |
IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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IAGP |
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HPO |
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ORPHA:99646 |
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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KIT |
KIT proto-oncogene, receptor tyrosine kinase |
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IAGP |
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HPO |
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ORPHA:79455 |
NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
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G |
KRT5 |
keratin 5 |
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IAGP |
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HPO |
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ORPHA:79145 |
NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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G |
POFUT1 |
protein O-fucosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:79145 |
NCBI chr20:32,207,880...32,238,658
Ensembl chr20:32,207,855...32,238,658
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G |
POGLUT1 |
protein O-glucosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:79145 |
NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708
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G |
PSENEN |
presenilin enhancer, gamma-secretase subunit |
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IAGP |
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HPO |
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ORPHA:79145 |
NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519
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G |
ADAR |
adenosine deaminase RNA specific |
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IAGP |
ClinVar Annotator: match by term: Hyperpigmented/hypopigmented macules |
ClinVar HPO |
PMID:25741868 PMID:28492532 PMID:30755392 |
MIM:127400 |
NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
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DPP9 |
dipeptidyl peptidase 9 |
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IAGP |
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HPO |
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MIM:620331 |
NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
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PIGN |
phosphatidylinositol glycan anchor biosynthesis class N |
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IAGP |
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HPO |
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ORPHA:280633 |
NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118
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G |
SASH1 |
SAM and SH3 domain containing 1 |
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IAGP |
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HPO |
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MIM:127500 |
NCBI chr 6:148,193,468...148,552,044
Ensembl chr 6:148,272,304...148,552,044
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G |
TSC1 |
TSC complex subunit 1 |
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IAGP |
DNA:nonsense mutation:exon:p.R509X (c.1525C>T) |
RGD |
PMID:25900779 |
RGD:11073512 |
NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
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DNAJC21 |
DnaJ heat shock protein family (Hsp40) member C21 |
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IAGP |
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HPO |
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MIM:617052 |
NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
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IFNG |
interferon gamma |
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IAGP |
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HPO |
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MIM:613254 ORPHA:805 |
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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G |
KRT14 |
keratin 14 |
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IAGP |
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HPO |
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ORPHA:79397 ORPHA:79399 |
NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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G |
KRT5 |
keratin 5 |
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IAGP |
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HPO |
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ORPHA:79397 ORPHA:79399 |
NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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G |
POFUT1 |
protein O-fucosyltransferase 1 |
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IAGP |
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HPO |
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MIM:615327 |
NCBI chr20:32,207,880...32,238,658
Ensembl chr20:32,207,855...32,238,658
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G |
SASH1 |
SAM and SH3 domain containing 1 |
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IAGP |
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HPO |
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MIM:618373 |
NCBI chr 6:148,193,468...148,552,044
Ensembl chr 6:148,272,304...148,552,044
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G |
TSC1 |
TSC complex subunit 1 |
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IAGP |
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HPO |
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MIM:191100 ORPHA:805 |
NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
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G |
TSC2 |
TSC complex subunit 2 |
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IAGP |
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HPO |
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MIM:613254 ORPHA:805 |
NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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ABCB6 |
ATP binding cassette subfamily B member 6 (LAN blood group) |
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IAGP |
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HPO |
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MIM:615402 |
NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994
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G |
ANKLE2 |
ankyrin repeat and LEM domain containing 2 |
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IAGP |
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HPO |
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MIM:616681 |
NCBI chr12:132,725,503...132,761,832
Ensembl chr12:132,725,503...132,761,832
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G |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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MIM:615522 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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G |
EPHB4 |
EPH receptor B4 |
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IAGP |
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HPO |
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ORPHA:137667 |
NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
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G |
FANCC |
FA complementation group C |
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IAGP |
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HPO |
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MIM:227645 |
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
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G |
GPNMB |
glycoprotein nmb |
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IAGP |
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HPO |
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MIM:617920 |
NCBI chr 7:23,246,775...23,275,108
Ensembl chr 7:23,235,967...23,275,108
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G |
KRT5 |
keratin 5 |
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IAGP |
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HPO |
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ORPHA:79145 |
NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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G |
NF1 |
neurofibromin 1 |
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IAGP |
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HPO |
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MIM:162200 |
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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G |
PLEC |
plectin |
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IAGP |
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HPO |
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ORPHA:79401 |
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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G |
POFUT1 |
protein O-fucosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:79145 |
NCBI chr20:32,207,880...32,238,658
Ensembl chr20:32,207,855...32,238,658
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G |
POGLUT1 |
protein O-glucosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:79145 |
NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708
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G |
PSENEN |
presenilin enhancer, gamma-secretase subunit |
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IAGP |
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HPO |
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ORPHA:79145 |
NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519
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G |
RASA1 |
RAS p21 protein activator 1 |
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IAGP |
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HPO |
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ORPHA:137667 |
NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
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G |
SPECC1L |
sperm antigen with calponin homology and coiled-coil domains 1 like |
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IAGP |
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HPO |
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MIM:145420 |
NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739
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ABCB6 |
ATP binding cassette subfamily B member 6 (LAN blood group) |
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IAGP |
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HPO |
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ORPHA:241 |
NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994
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G |
AIRE |
autoimmune regulator |
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IAGP |
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HPO |
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ORPHA:3453 |
NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648
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G |
AKT1 |
AKT serine/threonine kinase 1 |
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IAGP |
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HPO |
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ORPHA:201 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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G |
ALK |
ALK receptor tyrosine kinase |
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IAGP |
|
HPO |
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ORPHA:626 |
NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586
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G |
ANTXR1 |
ANTXR cell adhesion molecule 1 |
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IAGP |
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HPO |
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ORPHA:2067 |
NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327
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G |
ARVCF |
ARVCF delta catenin family member |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
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G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:626 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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G |
BRCA1 |
BRCA1 DNA repair associated |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
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G |
BRCA2 |
BRCA2 DNA repair associated |
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IAGP |
|
HPO |
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ORPHA:84 |
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
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G |
BRIP1 |
BRCA1 interacting DNA helicase 1 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
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G |
BTK |
Bruton tyrosine kinase |
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IAGP |
|
HPO |
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ORPHA:47 |
NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796
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G |
CAV1 |
caveolin 1 |
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IAGP |
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HPO |
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ORPHA:220402 |
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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G |
CCN2 |
cellular communication network factor 2 |
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IAGP |
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HPO |
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ORPHA:220402 |
NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
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G |
CCR6 |
C-C motif chemokine receptor 6 |
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IAGP |
|
HPO |
|
ORPHA:220402 |
NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141
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G |
CD28 |
CD28 molecule |
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IAGP |
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HPO |
|
ORPHA:2584 |
NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756
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G |
CHN1 |
chimerin 1 |
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IAGP |
|
HPO |
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ORPHA:233 |
NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381
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G |
CIB1 |
calcium and integrin binding 1 |
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IAGP |
|
HPO |
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ORPHA:302 |
NCBI chr15:90,229,975...90,265,759
Ensembl chr15:90,229,975...90,234,047
|
|
G |
CLTRN |
collectrin, amino acid transport regulator |
|
IAGP |
|
HPO |
|