PHEX (phosphate regulating endopeptidase X-linked)
|
| Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
5251 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Phosphate regulating endopeptidase X-linked |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
PHEX |
SynonymsGene synonyms aliases
|
HPDR, HPDR1, HYP, HYP1, LXHR, PEX, XLH |
ChromosomeChromosome number
|
X |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
Xp22.11 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. |
SNPsSNP information provided by dbSNP.
|
| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs137853268 |
T>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant |
| rs137853269 |
G>A,C |
Pathogenic, likely-pathogenic |
Missense variant, upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant |
| rs140678356 |
C>G,T |
Pathogenic |
Stop gained, missense variant, non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant |
| rs144911719 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, non coding transcript variant, coding sequence variant |
| rs147859619 |
G>C |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
| rs151306376 |
C>G,T |
Pathogenic |
Stop gained, missense variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant |
| rs193922454 |
T>G |
Likely-pathogenic |
Splice donor variant |
| rs193922455 |
G>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
| rs193922458 |
G>A |
Likely-pathogenic |
Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, stop gained |
| rs193922459 |
G>A,C |
Likely-pathogenic, pathogenic |
Splice donor variant, genic upstream transcript variant |
| rs193922460 |
->CC |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
| rs202074612 |
C>G,T |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, stop gained, missense variant |
| rs202164519 |
A>C |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs267606945 |
T>C |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant |
| rs267606946 |
G>A |
Pathogenic |
Initiator codon variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant |
| rs754449807 |
G>C |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs770573978 |
C>G,T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, stop gained, genic upstream transcript variant |
| rs770630990 |
G>A,T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, stop gained, 5 prime UTR variant, genic upstream transcript variant |
| rs771208171 |
T>C,G |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, stop gained, synonymous variant, genic upstream transcript variant |
| rs866429868 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
| rs886039580 |
TG>- |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, frameshift variant, upstream transcript variant, 5 prime UTR variant, coding sequence variant |
| rs886039581 |
T>- |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, intron variant, frameshift variant, coding sequence variant |
| rs886039582 |
A>- |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
| rs886039583 |
G>A |
Pathogenic |
Splice donor variant, genic upstream transcript variant |
| rs886039584 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs886039585 |
G>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs886039661 |
T>A |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant |
| rs886039745 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs886041223 |
G>A,C |
Pathogenic |
Splice acceptor variant, genic upstream transcript variant |
| rs886041224 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs886041225 |
G>A |
Pathogenic |
Splice donor variant |
| rs886041357 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs886041358 |
A>G |
Pathogenic |
Splice acceptor variant |
| rs886041359 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs886041361 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs886041362 |
AG>- |
Pathogenic |
Non coding transcript variant, splice donor variant, coding sequence variant |
| rs886041363 |
C>T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs886041446 |
T>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
| rs886041496 |
A>T |
Pathogenic |
Splice acceptor variant, genic upstream transcript variant |
| rs886041529 |
G>A |
Pathogenic |
Splice acceptor variant, genic upstream transcript variant |
| rs886041569 |
T>-,TT |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, stop gained, frameshift variant, coding sequence variant |
| rs886041588 |
->G |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
| rs886041626 |
G>T |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant |
| rs886041680 |
CTTGAATCTAATATTGGCCCTG>- |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, intron variant, frameshift variant, coding sequence variant |
| rs886041681 |
GAGGT>- |
Pathogenic |
Non coding transcript variant, splice donor variant, coding sequence variant, genic upstream transcript variant |
| rs886041694 |
T>A,G |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, intron variant, missense variant, stop gained, coding sequence variant |
| rs886041695 |
G>A |
Pathogenic |
Splice acceptor variant |
| rs886041839 |
G>A,T |
Pathogenic |
Splice acceptor variant |
| rs886041853 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
| rs886042025 |
A>T |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs886042234 |
GAGT>- |
Uncertain-significance, pathogenic-likely-pathogenic |
Intron variant, non coding transcript variant, splice donor variant, coding sequence variant |
| rs886043584 |
C>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant |
| rs886043680 |
G>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
| rs915608304 |
G>A,C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs919011936 |
G>A,T |
Pathogenic |
Genic upstream transcript variant, intron variant |
| rs948246694 |
C>A,T |
Pathogenic |
Stop gained, missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant |
| rs1057517787 |
C>A,T |
Pathogenic |
Synonymous variant, genic upstream transcript variant, coding sequence variant, stop gained, intron variant, non coding transcript variant |
| rs1057517788 |
G>A,C |
Likely-pathogenic, pathogenic |
Genic upstream transcript variant, splice donor variant, intron variant |
| rs1057517789 |
G>A |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained, intron variant, non coding transcript variant |
| rs1057517790 |
C>T |
Pathogenic |
Missense variant, genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant |
| rs1057517791 |
G>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant |
| rs1057517792 |
->A |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant |
| rs1057517793 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
| rs1057517794 |
G>A |
Pathogenic |
Splice acceptor variant |
| rs1057517896 |
T>C |
Pathogenic |
Splice donor variant |
| rs1057517904 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs1057518214 |
T>G |
Likely-pathogenic |
Intron variant |
| rs1057518348 |
T>A |
Pathogenic |
Genic upstream transcript variant, splice donor variant, intron variant |
| rs1057518377 |
T>A |
Pathogenic |
Splice donor variant |
| rs1057521143 |
C>T |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained, intron variant, non coding transcript variant |
| rs1057521144 |
G>A |
Pathogenic |
Genic upstream transcript variant, splice donor variant |
| rs1064793227 |
G>C |
Pathogenic |
Splice donor variant |
| rs1064793461 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1064793526 |
AGGAGTACTGC>- |
Pathogenic |
5 prime UTR variant, frameshift variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant |
| rs1064793847 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1064793956 |
TC>- |
Pathogenic |
5 prime UTR variant, frameshift variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant |
| rs1064794303 |
C>G,T |
Pathogenic |
5 prime UTR variant, missense variant, genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant |
| rs1064795949 |
TTG>- |
Likely-pathogenic |
5 prime UTR variant, genic upstream transcript variant, coding sequence variant, inframe deletion, non coding transcript variant |
| rs1064796303 |
GTATAATGAGGACCCATTCATCTTCTTTGCTCAGTCCTAGATTAG>- |
Pathogenic |
Splice donor variant, genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant |
| rs1064796391 |
TGG>- |
Likely-pathogenic |
Initiator codon variant, genic upstream transcript variant, coding sequence variant, inframe deletion, non coding transcript variant |
| rs1064796927 |
A>G |
Pathogenic |
Splice acceptor variant |
| rs1064796928 |
G>A,T |
Pathogenic |
Splice donor variant |
| rs1064796942 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
| rs1085307522 |
G>C |
Likely-pathogenic |
Intron variant |
| rs1085307642 |
T>G |
Pathogenic |
Upstream transcript variant, genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant |
| rs1085307950 |
T>A |
Likely-pathogenic |
Missense variant, genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant |
| rs1085308012 |
T>C |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs1131691731 |
G>T |
Pathogenic |
Genic upstream transcript variant, splice donor variant |
| rs1131691812 |
->T |
Pathogenic |
5 prime UTR variant, frameshift variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant |
| rs1131691841 |
G>T |
Likely-pathogenic |
Splice donor variant |
| rs1131692026 |
A>C |
Likely-pathogenic |
Genic upstream transcript variant, splice acceptor variant |
| rs1416252114 |
T>A,C |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, synonymous variant |
| rs1556010757 |
->T |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant |
| rs1556012055 |
C>G |
Pathogenic |
Intron variant, genic upstream transcript variant |
| rs1556012094 |
G>- |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, splice donor variant |
| rs1556012100 |
G>A,T |
Pathogenic |
Genic upstream transcript variant, splice donor variant |
| rs1556014263 |
G>T |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant |
| rs1556014287 |
T>C |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant |
| rs1556020460 |
T>A |
Pathogenic |
Intron variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant |
| rs1556020474 |
T>- |
Pathogenic |
Intron variant, non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant |
| rs1556020485 |
T>C |
Pathogenic |
Intron variant, genic upstream transcript variant |
| rs1556020752 |
T>C |
Pathogenic |
Intron variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant |
| rs1556020770 |
G>A |
Pathogenic |
Intron variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained |
| rs1556020798 |
GAGA>- |
Pathogenic |
Intron variant, non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant |
| rs1556020818 |
A>G |
Pathogenic-likely-pathogenic |
Intron variant, non coding transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant |
| rs1556020845 |
G>A |
Pathogenic |
Intron variant, genic upstream transcript variant, splice donor variant |
| rs1556023495 |
C>A |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant |
| rs1556023503 |
A>- |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant |
| rs1556023505 |
T>C |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant |
| rs1556023528 |
G>A,C |
Pathogenic |
Intron variant, genic upstream transcript variant |
| rs1556024541 |
G>T |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant |
| rs1556025314 |
G>T |
Pathogenic |
Genic upstream transcript variant, splice donor variant |
| rs1556025936 |
CAG>TCA |
Pathogenic |
Intron variant, genic upstream transcript variant, splice acceptor variant |
| rs1556025968 |
AAG>- |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, inframe deletion, coding sequence variant |
| rs1556025994 |
C>-,CC |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant |
| rs1556026027 |
T>A |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant |
| rs1556026033 |
A>G |
Likely-pathogenic |
Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant |
| rs1556026042 |
A>- |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant |
| rs1556029499 |
G>A |
Pathogenic |
Non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant |
| rs1556029516 |
T>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
| rs1556029519 |
CA>AT |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs1556030465 |
T>C |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs1556030487 |
A>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
| rs1556030502 |
G>T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs1556036014 |
G>C |
Pathogenic |
Splice acceptor variant |
| rs1556070724 |
A>G |
Pathogenic |
Splice acceptor variant |
| rs1556070890 |
A>C |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs1556071086 |
G>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
| rs1556071123 |
->T |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
| rs1556071138 |
->C |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
| rs1556091855 |
G>C |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs1556091873 |
->T |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
| rs1569364701 |
AG>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant |
| rs1569369653 |
G>A |
Pathogenic |
Coding sequence variant, upstream transcript variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, non coding transcript variant |
| rs1569391212 |
C>T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained |
| rs1602240890 |
->GC |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant |
| rs1602240926 |
GC>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant |
| rs1602241023 |
G>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant |
| rs1602244774 |
AA>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant |
| rs1602244810 |
G>C |
Likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, missense variant |
| rs1602244836 |
->C |
Pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant |
| rs1602251992 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant |
| rs1602273769 |
ATCA>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant |
| rs1602273900 |
C>T |
Likely-pathogenic |
Coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant, missense variant |
| rs1602273945 |
G>T |
Likely-pathogenic |
Genic upstream transcript variant, intron variant |
| rs1602274746 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant |
| rs1602274883 |
G>A |
Pathogenic |
Coding sequence variant, intron variant, stop gained, genic upstream transcript variant, non coding transcript variant |
| rs1602274893 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant |
| rs1602274929 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant |
| rs1602274950 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant, non coding transcript variant |
| rs1602288211 |
GGT>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, splice donor variant, non coding transcript variant |
| rs1602290398 |
G>T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained |
| rs1602292528 |
G>T |
Pathogenic |
Genic upstream transcript variant, splice acceptor variant |
| rs1602303865 |
T>C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant |
| rs1602304005 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs1602307030 |
->GG |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs1602307078 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs1602307094 |
A>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs1602307107 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs1602324484 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs1602324630 |
A>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs1602363343 |
->TCA |
Pathogenic |
Coding sequence variant, inframe indel, non coding transcript variant |
| rs1602363550 |
G>A |
Likely-pathogenic |
Intron variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein
|
| UniProt ID |
P78562 |
| Protein name |
Phosphate-regulating neutral endopeptidase PHEX (EC 3.4.24.-) (Metalloendopeptidase homolog PEX) (Vitamin D-resistant hypophosphatemic rickets protein) (X-linked hypophosphatemia protein) (HYP) |
| Protein function |
Peptidase that cleaves SIBLING (small integrin-binding ligand, N-linked glycoprotein)-derived ASARM peptides, thus regulating their biological activity (PubMed:15664000, PubMed:18162525, PubMed:18597632, PubMed:9593714). Cleaves ASARM peptides b |
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF05649 |
Peptidase_M13_N |
76 → 479 |
Peptidase family M13 |
Family |
| PF01431 |
Peptidase_M13 |
538 → 748 |
Peptidase family M13 |
Family |
|
Sequence |
|
| Sequence length |
749 |
| Interactions |
View interactions |
| Associated diseases
|
| Causal |
| Disease name |
Disease term |
dbSNP ID |
References |
| Arthritis |
Degenerative polyarthritis |
rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 |
|
| Craniosynostosis |
Craniosynostosis |
rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs281865153, rs281865154, rs864321680, rs864321681, rs1057517670, rs1085307122, rs1064794325, rs1884302, rs1555750816, rs1599823350 |
|
| Hypophosphatemic rickets |
Hypophosphatemic Rickets, X-Linked Dominant, Hypophosphatemic Rickets, Familial Hypophosphatemic Rickets |
rs104894347, rs28937882, rs587776696, rs587776697, rs587776698, rs121908248, rs587776797, rs121908249, rs193922701, rs193922702, rs886041227, rs886041363, rs886041296, rs886041369, rs866429868, rs1556025994, rs1064793847, rs1556128253, rs1554278331, rs899142959, rs373044722 |
29460029, 9768646, 31065622, 12727977, 9199930, 3414685, 10439971, 11004247, 11414762, 10737991, 19219621, 24684036, 26051471, 11468271, 9106524, 18775977, 9768674, 9097956, 11414762, 18775977, 3414685 |
| Hypophosphatemic vitamin d refractory rickets, x-linked |
Hypophosphatemic Rickets, X-Linked Recessive |
rs2146979490, rs137853268, rs137853269, rs137853270, rs137853271, rs151340626, rs193922454, rs193922455, rs193922456, rs193922457, rs193922458, rs193922459, rs193922460, rs797044808, rs875989883, rs886039583, rs886041361, rs886041364, rs886041368, rs886041372, rs886041227, rs886041223, rs886041695, rs886041363, rs886041225, rs886041631, rs886041446, rs886041362, rs886041839, rs886041367, rs886041374, rs886041529, rs886041359, rs886041224, rs886041369, rs886041226, rs1057517799, rs1057517798, rs866429868, rs770573978, rs1057521800, rs1064793956, rs1064793228, rs1064795106, rs1064796845, rs1131691731, rs1131691841, rs1131691645, rs151306376, rs1556010757, rs1556012055, rs202074612, rs770630990, rs1556012100, rs1556012094, rs1556014263, rs1556014287, rs1556020460, rs1556020474, rs1556020485, rs1556020752, rs1556020798, rs1556020818, rs771208171, rs1556023495, rs1556023503, rs1556023505, rs1556023528, rs1556024541, rs1556025314, rs1556025936, rs1556025968, rs1556026027, rs1556026042, rs1556029499, rs1556029516, rs1556029519, rs1556030465, rs1556030487, rs1556030502, rs1556036014, rs754449807, rs375593493, rs1269067103, rs1556070724, rs1556070890, rs1556071086, rs1556071123, rs1556071138, rs1064796928, rs1556091855, rs1556128043, rs1556128253, rs1556135308, rs1556135467, rs1556135477, rs772130004, rs886041296, rs1556138407, rs1556138590, rs1556138742, rs1556148392, rs1556148532, rs748792378, rs1240767654, rs1556151004, rs1556151071, rs1556151137, rs1556151545, rs1556200989, rs1556201034, rs1556201217, rs1556205815, rs1057517981, rs1556206093, rs1556206335, rs1556206403, rs1556138769, rs1556026033, rs1556020770, rs1400504292, rs1569442206, rs1602240890, rs1602240926, rs1602241023, rs1602244836, rs1602273900, rs1602274883, rs1602274893, rs1602274929, rs1602274950, rs1602288211, rs1602290398, rs1602292528, rs1556025994, rs1602303865, rs1602304005, rs1602307078, rs1602307094, rs1602307107, rs1602324484, rs1602324630, rs1602354302, rs1602363343, rs1602363550, rs1602395717, rs1602402229, rs1602402258, rs1602405079, rs1602405176, rs1602405239, rs1602405375, rs1602411514, rs1602439597, rs1602439611, rs1602439662, rs1602442819, rs1602442871, rs1602273769, rs1602244774, rs1602244810, rs915608304 |
3414685, 18775977, 11414762 |
| Vitamin d-dependent rickets |
Vitamin D-Resistant Rickets, X-Linked |
rs28934604, rs28934605, rs28934606, rs387906258, rs387906259, rs387906260, rs118204007, rs761780097, rs118204008, rs118204009, rs2140397731, rs770204470, rs118204010, rs118204011, rs61495246, rs121909790, rs121909791, rs121909792, rs121909802, rs121909794, rs121909795, rs121909796, rs121909797, rs121909798, rs121909800, rs121909801, rs1592107753, rs267607169, rs111033566, rs886037890, rs568165874, rs780950819, rs1057520815, rs1057521095, rs555068245, rs763437121, rs767480544, rs749537609 |
18775977, 3414685, 19242361, 11414762 |
|
| Unknown |
| Disease name |
Disease term |
dbSNP ID |
References |
| Dwarfism |
Dwarfism |
|
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| Enthesitis |
Enthesitis |
|
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| Frontal bossing |
Frontal bossing |
|
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| Hypomineralization of enamel of tooth |
Hypomineralization of enamel of tooth |
|
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| Hypophosphatemia, x-linked |
X-linked hypophosphatemia |
|
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| Nephrocalcinosis |
Nephrocalcinosis |
|
9430241 |
| Osteomalacia |
Osteomalacia |
|
|
| Rachitic rosary |
Rachitic rosary |
|
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| Renal tubular disorder |
Renal tubular disorder |
|
|
| Rickets |
Rickets, Adult Rickets |
|
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| Spinal cord compression |
Compression of spinal cord |
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|
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