Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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286077
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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Family with sequence similarity 83 member H |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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FAM83H |
Synonyms (NCBI Gene)
Gene synonyms aliases
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AI3, AI3A |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
AI3A |
Chromosome
Chromosome number
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8 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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8q24.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010] |
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs137854435 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs137854436 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs137854437 |
C>A,T |
Pathogenic |
Missense variant, stop gained, coding sequence variant |
rs137854438 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
rs137854439 |
C>G,T |
Pathogenic |
Missense variant, stop gained, coding sequence variant |
rs137854440 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs137854441 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs137854442 |
G>A,T |
Pathogenic |
Missense variant, stop gained, coding sequence variant |
rs137854443 |
C>A,T |
Pathogenic |
Missense variant, stop gained, coding sequence variant |
rs137854444 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs387907056 |
G>A,C |
Pathogenic |
Coding sequence variant, missense variant, stop gained |
rs796065022 |
GG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs796065023 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1554623490 |
AC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Amelogenesis imperfecta |
Amelogenesis Imperfecta, Amelogenesis Imperfecta, Type III |
rs267607178, rs143816093, rs606231351, rs137854435, rs137854440, rs137854441, rs137854444, rs587776587, rs121908109, rs587776588, rs140213840, rs104894704, rs387906487, rs387906488, rs387906489, rs104894733, rs104894734, rs104894736, rs387906490, rs387906491, rs104894737, rs104894738, rs144411158, rs587776911, rs587776912, rs587776913, rs587776914, rs387907215, rs866941536, rs1560562738, rs1560562630, rs146645381, rs1560558455, rs587777515, rs587777516, rs587777530, rs139620139, rs587777531, rs587777535, rs587777536, rs587777537, rs606231462, rs1553275034, rs869320671, rs786201004, rs140015315, rs730882118, rs730880297, rs730880298, rs786204825, rs786204826, rs1555409827, rs1057517671, rs1057517672, rs556734208, rs146238585, rs202073531, rs1057519277, rs767907487, rs779823931, rs1060499539, rs1085307111, rs546603773, rs1553275070, rs1553275195, rs752102959, rs1554623490, rs1553888384, rs770804941, rs1553887511, rs557128345, rs1568724130, rs199527325, rs1603038146, rs773117913, rs1560973571, rs1560782372, rs1560980659, rs1560973467, rs772929908, rs762816338, rs1565222166, rs1595312054, rs1866200282, rs2086254952 View all (70 more) |
18484629, 19407157, 18252228, 26142250 |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Ameloblastoma |
Associate
|
27222304 |
Amelogenesis Imperfecta |
Associate
|
18252228, 18484629, 19407157, 19530186, 20160442, 20938048, 21597265, 22243262, 27222304, 32289446, 33034243, 35212465, 35886055, 39273410 |
Amelogenesis Imperfecta Type III |
Associate
|
21118793 |
Anophthalmia with pulmonary hypoplasia |
Stimulate
|
33747255 |
Breast Neoplasms |
Stimulate
|
30959550 |
Breast Neoplasms |
Associate
|
32839509 |
Carcinogenesis |
Associate
|
30842470, 31250574, 34625065 |
Carcinoma Ductal |
Associate
|
30959550 |
Carcinoma Hepatocellular |
Stimulate
|
31599410 |
Carcinoma Pancreatic Ductal |
Associate
|
29440233 |
Colorectal Neoplasms |
Associate
|
27222304, 31545230 |
Dental Enamel Hypoplasia |
Associate
|
18252228 |
Developmental Defects of Enamel |
Associate
|
33034243 |
Esophageal Neoplasms |
Associate
|
32583631 |
Esophageal Squamous Cell Carcinoma |
Associate
|
32583631 |
Gallbladder Neoplasms |
Associate
|
32460791 |
Lymphatic Metastasis |
Stimulate
|
32583631 |
Multiple Pterygium Syndrome Autosomal Dominant |
Associate
|
20160442 |
Neoplasms |
Stimulate
|
28078827, 31599410, 33413565, 33747255 |
Neoplasms |
Associate
|
31250574, 31545230, 32460791, 32583631, 32839509, 34625065 |
Osteomyelitis |
Inhibit
|
31871129 |
Ovarian Neoplasms |
Stimulate
|
33413565 |
Pancreatic Neoplasms |
Associate
|
29440233 |
Paraphilic Disorders |
Associate
|
19407157 |
Urinary Bladder Neoplasms |
Associate
|
34625065 |
Uterine Cervical Neoplasms |
Associate
|
30842470, 31250574 |
|