| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Abnormal bleeding |
Pathogenic |
rs28933386 |
RCV001270562 |
| Abnormal cardiovascular system morphology |
Pathogenic |
rs121918461 |
RCV000626829 |
| Abnormal facial shape |
Likely pathogenic; Pathogenic |
rs397507540, rs397507542 |
RCV001730478 RCV000626828 |
| Astrocytic tumor |
Likely pathogenic; Pathogenic |
rs397507539 |
RCV003764999 |
| Autism spectrum disorder |
Likely pathogenic |
rs397507517 |
RCV001257614 |
| B lymphoblastic leukemia lymphoma, no ICD-O subtype |
Pathogenic |
rs121918459 |
RCV000722014 |
| Brachycephaly |
Pathogenic |
rs397507520 |
RCV001003604 |
| Cafe-au-lait spot |
Pathogenic |
rs397507542 |
RCV000626828 |
| Cardiovascular phenotype |
Likely pathogenic; Pathogenic |
rs121918463, rs121918453, rs121918454, rs28933386, rs121918455, rs121918456, rs121918460, rs121918457, rs121918458, rs121918462, rs121918466, rs121918469, rs121918470, rs397507501, rs397507504, rs397507505, rs397507507, rs397507509, rs397507510, rs397507511, rs397507514, rs397507518, rs397507519, rs397507520, rs397507523, rs397507525, rs376607329, rs397507527, rs397507529, rs397507530, rs397507531, rs397507537, rs397507539, rs397507540, rs397507541, rs397507543, rs397507545, rs397507547, rs397507548, rs397507549, rs397507550 View all (26 more) |
RCV002408715 RCV005462887 RCV002426502 RCV000621227 RCV005462888 RCV000617951 RCV002408460 RCV002390104 RCV004984639 RCV002415414 RCV002453257 RCV002390105 RCV004018624 RCV002399352 RCV005462890 RCV002408493 RCV006342082 RCV002408494 RCV002408495 RCV002408496 RCV002415446 RCV005259985 RCV005462891 RCV002453282 RCV004984651 RCV005712125 RCV000617179 RCV002399353 RCV006342083 RCV002415447 RCV004658964 RCV002444453 RCV002444454 RCV004018710 RCV002371807 RCV002390129 RCV004018714 RCV002390130 RCV004018715 RCV004018716 RCV005462892 RCV002390131 RCV000618529 RCV002390132 RCV002390133 RCV000619738 RCV002399355 RCV002408501 RCV002415470 RCV002422462 |
| CBL-related disorder |
Pathogenic |
rs121918456 |
RCV000492270 |
| Cleft lip/palate |
Pathogenic |
rs397507529 |
RCV005623287 |
| Congenital long QT syndrome |
Pathogenic |
rs397507548 |
RCV004732584 |
| Diffuse glioma, H3 G34 mutant |
Pathogenic |
rs28933386 |
RCV006253544 |
| Diffuse midline glioma, H3 K27M-mutant |
Pathogenic; Likely pathogenic |
rs121918468, rs397507501, rs397507541, rs397507544 |
RCV006253549 RCV006253714 RCV006253715 RCV006253716 |
| Early T cell progenitor acute lymphoblastic leukemia |
Pathogenic |
rs121918463 |
RCV000190417 |
| Embryonal rhabdomyosarcoma |
Likely pathogenic; Pathogenic |
rs397507542, rs886039463, rs121918468, rs121918470, rs397507550 |
RCV006254336 RCV006253933 RCV006253548 RCV006253550 RCV006253718 |
| Global developmental delay |
Pathogenic |
rs397507520 |
RCV001003604 |
| Hereditary cancer-predisposing syndrome |
Pathogenic |
rs28933386, rs121918459 |
RCV001293867 RCV005251036 |
| Hypertrophic cardiomyopathy |
Pathogenic |
rs121918457, rs397507520 |
RCV000853462 RCV000626830 |
| Intellectual disability |
Pathogenic |
rs121918462, rs397507545 |
RCV005624686 RCV005624717 |
| Juvenile myelomonocytic leukemia |
Likely pathogenic; Pathogenic |
rs2038154558, rs121918453, rs397507539, rs121918454, rs28933386, rs121918455, rs121918456, rs121918460, rs121918461, rs121918457, rs121918458, rs121918459, rs121918462, rs121918465, rs121918466, rs267606990, rs1052382672, rs397507501, rs397507505, rs397507506, rs397507507, rs397507510, rs397507514, rs397507520, rs397507525, rs376607329, rs397507529, rs397507531, rs397507540, rs397507541, rs397507543, rs397507545, rs397507546, rs397507547, rs397507550, rs397516801, rs397507527, rs397507536 View all (23 more) |
RCV002503431 RCV000824740 RCV005008065 RCV000762883 RCV000515213 RCV000515324 RCV000515421 RCV000768062 RCV000762882 RCV000824738 RCV000515406 RCV000033543 RCV000515408 RCV000515312 RCV000014265 RCV000014267 RCV000515381 RCV002496356 RCV004796235 RCV002482941 RCV000768061 RCV004795945 RCV000515267 RCV002490444 RCV003224113 RCV000762884 RCV000824742 RCV000515221 RCV002496500 RCV001536068 RCV002054539 RCV000762885 RCV002482942 RCV002490445 RCV004795948 RCV002490446 RCV002504856 RCV002490447 RCV004795949 RCV000033542 RCV000515165 RCV000762886 RCV002490448 RCV000762887 RCV002490449 RCV005007952 RCV002504894 RCV005012502 |
| LEOPARD syndrome 1 |
Likely pathogenic; Pathogenic |
rs2038154558, rs727503380, rs397507539, rs1555267558, rs121918453, rs121918454, rs28933386, rs121918455, rs121918456, rs121918460, rs121918461, rs121918457, rs121918458, rs121918459, rs121918462, rs121918463, rs121918466, rs121918468, rs121918469, rs121918470, rs267606990, rs1052382672, rs397507501, rs397507505, rs397507506, rs397507507, rs397507510, rs397507514, rs397507519, rs397507520, rs397507525, rs376607329, rs397507527, rs397507529, rs397507531, rs397507540, rs397507541, rs397507542, rs397507543, rs397507545, rs397507546, rs397507547, rs397507548, rs397507549, rs397507550, rs397516801, rs397507509, rs397507536, rs2037994433 View all (34 more) |
RCV002503431 RCV004562308 RCV005008065 RCV003333582 RCV000576667 RCV000515213 RCV000515324 RCV000515421 RCV000055890 RCV000762882 RCV001270166 RCV000055884 RCV002490364 RCV000515408 RCV000515312 RCV004562208 RCV000515381 RCV000055882 RCV000055883 RCV000014272 RCV001002770 RCV002496356 RCV004796235 RCV002482941 RCV000768061 RCV004795945 RCV000515267 RCV002490444 RCV000576434 RCV000762884 RCV003333004 RCV000515221 RCV002496500 RCV001253554 RCV003147309 RCV002054539 RCV000762885 RCV002482942 RCV001729356 RCV002490445 RCV004795948 RCV002490446 RCV001335067 RCV000055885 RCV000055886 RCV004795949 RCV000515165 RCV000762886 RCV000677651 RCV000762887 RCV000055887 RCV000055888 RCV003147314 RCV002464090 RCV001330780 RCV003224860 RCV000055889 RCV005012502 RCV001253203 |
| Low grade glioma |
Likely pathogenic; Pathogenic |
rs121918453 |
RCV006253841 |
| Lymphoma |
Pathogenic |
rs121918459 |
RCV000722014 |
| Male infertility with azoospermia or oligozoospermia due to single gene mutation |
Pathogenic; Likely pathogenic |
rs28933386, rs2540419851, rs369155025, rs397507505, rs397507547 |
RCV003991568 RCV003991596 RCV003991597 RCV003991571 RCV003991572 |
| Metachondromatosis |
Likely pathogenic; Pathogenic |
rs2135901920, rs2038154558, rs2135902166, rs2540465831, rs727503380, rs397507539, rs1555267558, rs121918453, rs121918454, rs28933386, rs121918455, rs121918456, rs121918460, rs121918461, rs121918457, rs121918458, rs121918459, rs121918462, rs121918463, rs121918466, rs2540420563, rs267606989, rs267606990, rs771672596, rs398122857, rs398122858, rs398122859, rs387907157, rs398122860, rs398122861, rs387907158, rs398122862, rs1052382672, rs397507501, rs397507505, rs397507506, rs397507507, rs397507510, rs397507514, rs397507519, rs397507520, rs397507525, rs376607329, rs397507527, rs397507529, rs397507531, rs397507540, rs397507541, rs397507543, rs397507545, rs397507546, rs397507547, rs397507550, rs397516801, rs397516807, rs1592852978, rs397507536, rs2540416086 View all (43 more) |
RCV003128275 RCV002503431 RCV002226944 RCV002287853 RCV004562307 RCV005008065 RCV003333581 RCV000762883 RCV000515213 RCV000515324 RCV000515421 RCV000768062 RCV000762882 RCV002490363 RCV000515406 RCV002490364 RCV000515408 RCV000515312 RCV004562207 RCV000515381 RCV000014275 RCV000014276 RCV000988912 RCV004515745 RCV000024255 RCV000024256 RCV000024257 RCV000024258 RCV000024259 RCV000024260 RCV000024261 RCV000024262 RCV004796235 RCV002482941 RCV000768061 RCV004795945 RCV000515267 RCV002490444 RCV003147304 RCV000762884 RCV003333003 RCV000515221 RCV002496500 RCV000988915 RCV003147308 RCV002054539 RCV000762885 RCV002482942 RCV002490445 RCV004795948 RCV002490446 RCV002504856 RCV002490447 RCV004795949 RCV000515165 RCV000762886 RCV002490448 RCV000762887 RCV003147313 RCV005007952 RCV000037654 RCV002504894 RCV001029946 RCV005012502 RCV001261100 |
| Microcephaly |
Pathogenic |
rs397507520 |
RCV001003604 |
| Mild intellectual disability |
Pathogenic |
rs397507542 |
RCV000626828 |
| Monogenic short statue |
Pathogenic; Likely pathogenic |
rs121918466, rs376607329, rs397507527, rs397507531, rs397507543, rs397507545 |
RCV005865179 RCV005865201 RCV005865202 RCV005865203 RCV005865204 RCV005865205 RCV005865206 |
| Neoplasm |
Pathogenic |
rs121918455 |
RCV005229787 |
| Neurodevelopmental abnormality |
Pathogenic |
rs397507529 |
RCV001731328 |
| Neurodevelopmental disorder |
Pathogenic |
rs397507545 |
RCV001374913 |
| Non-immune hydrops fetalis |
Likely pathogenic; Pathogenic |
rs886039463, rs121918461, rs121918463 |
RCV001376031 RCV001376030 RCV001376066 |
| Noonan syndrome |
Likely pathogenic; Pathogenic |
rs727503380, rs121918461, rs121918453, rs727503381, rs121918463, rs397507539, rs121918454, rs28933386, rs121918455, rs121918456, rs121918460, rs121918457, rs121918458, rs121918459, rs121918462, rs121918466, rs121918469, rs121918470, rs267606990, rs397507501, rs397507503, rs397507504, rs397507505, rs397507506, rs397507507, rs397507509, rs397507510, rs397507511, rs397507512, rs397507514, rs397507517, rs397507518, rs397507520, rs397507523, rs397507525, rs376607329, rs397507527, rs397507529, rs397507530, rs397507531, rs397507540, rs397507541, rs397507542, rs397507543, rs397507544, rs397507545, rs397507547, rs397507548, rs397507549, rs1398859175, rs397516801, rs397516802, rs397516803, rs397516809, rs397516810, rs397507550, rs2135862010, rs2540415624, rs2540415689 View all (44 more) |
RCV000151687 RCV000156008 RCV000824740 RCV000151696 RCV001261017 RCV001261020 RCV000157001 RCV000157006 RCV000156977 RCV000037669 RCV000824744 RCV000156993 RCV000824738 RCV000157014 RCV000033543 RCV000157000 RCV000156985 RCV000037663 RCV000037641 RCV000824746 RCV000824752 RCV000211847 RCV000157002 RCV000037621 RCV000154561 RCV000037626 RCV000037627 RCV000037629 RCV000211846 RCV000151684 RCV000037631 RCV000599619 RCV000037633 RCV000151689 RCV000037635 RCV000037639 RCV000037638 RCV000157021 RCV000037645 RCV000824742 RCV000521568 RCV000824743 RCV000037657 RCV000037658 RCV000037660 RCV000824745 RCV000037661 RCV000037662 RCV000037664 RCV000037668 RCV000208219 RCV000157010 RCV000037617 RCV000156989 RCV000824747 RCV000824748 RCV000037618 RCV000033542 RCV000037619 RCV000824750 RCV000157015 RCV000156983 RCV001849289 RCV000824751 RCV000625873 RCV000037634 RCV000037637 RCV000037640 RCV000037656 RCV000037659 RCV000037665 RCV001261024 RCV001261101 RCV001261097 RCV001261098 RCV001261099 RCV001261023 |
| Noonan syndrome 1 |
Likely pathogenic; Pathogenic |
rs2038154558, rs1566186813, rs727503380, rs121918453, rs727503381, rs397507512, rs121918464, rs121918463, rs397507539, rs397507542, rs2038442836, rs886039463, rs1555267558, rs121918454, rs28933386, rs121918455, rs121918456, rs121918460, rs121918461, rs121918457, rs121918458, rs121918459, rs121918462, rs121918466, rs121918468, rs121918469, rs121918470, rs80338836, rs267606990, rs2540457138, rs1052382672, rs397507501, rs397507503, rs397507504, rs397507505, rs397507506, rs397507507, rs397507509, rs397507510, rs397507511, rs397507513, rs397507514, rs397507517, rs397507518, rs397507519, rs397507520, rs397507523, rs397507524, rs397507525, rs397507526, rs376607329, rs397507527, rs397507529, rs397507530, rs397507531, rs397507540, rs397507541, rs397507543, rs397507544, rs397507545, rs397507546, rs397507547, rs397507548, rs397507549, rs397507550, rs397516801, rs397516802, rs397516810, rs1592852902, rs397507536, rs2038706856 View all (56 more) |
RCV002503431 RCV002288423 RCV004562306 RCV000995620 RCV006249598 RCV004593995 RCV002288669 RCV005867960 RCV001002766 RCV002471444 RCV004786806 RCV001330779 RCV003333580 RCV000014252 RCV000014253 RCV000014254 RCV000014255 RCV000577894 RCV000014257 RCV000014258 RCV000106323 RCV000014260 RCV000014261 RCV000014262 RCV000014263 RCV000014268 RCV001089941 RCV001281363 RCV001254107 RCV000014273 RCV000014274 RCV000014277 RCV003514654 RCV005869616 RCV004796235 RCV001330777 RCV002287349 RCV000995619 RCV002470725 RCV000768061 RCV001358687 RCV000037630 RCV002490444 RCV000416546 RCV004698420 RCV000576434 RCV005867808 RCV002052009 RCV004795946 RCV003150933 RCV003152671 RCV000762884 RCV000856760 RCV001261998 RCV004771457 RCV001089572 RCV000995621 RCV000357736 RCV000585640 RCV000991103 RCV002496500 RCV000106324 RCV000234910 RCV001729355 RCV001283770 RCV001027860 RCV000762885 RCV002482942 RCV000660240 RCV000984919 RCV002490446 RCV001002769 RCV000722171 RCV000494687 RCV002260947 RCV002227049 RCV000515165 RCV000660241 RCV001330778 RCV000677652 RCV004554638 RCV000679882 RCV002490449 RCV003313932 RCV003996327 RCV002504894 RCV002288537 RCV000414941 RCV005867841 RCV000995622 RCV003989616 RCV003514461 RCV001261995 RCV001268963 |
| Noonan syndrome 3 |
Likely pathogenic; Pathogenic |
rs727503380, rs121918455, rs121918459, rs121918466, rs121918470, rs397507506, rs397507510, rs397507512, rs397507518, rs397507520, rs397507531, rs397507549, rs397516810 |
RCV000589756 RCV000588570 RCV000588678 RCV000590740 RCV000586289 RCV000587067 RCV000589874 RCV000586528 RCV000589214 RCV000585988 RCV000586058 RCV000589512 RCV000587757 |
| Noonan syndrome and Noonan-related syndrome |
Likely pathogenic; Pathogenic |
rs121918453, rs121918464, rs397507539, rs886039463, rs121918454, rs28933386, rs121918455, rs121918456, rs121918460, rs121918461, rs121918457, rs121918459, rs121918462, rs121918463, rs121918465, rs121918466, rs121918469, rs1052382672, rs397507501, rs397507504, rs397507505, rs397507506, rs397507509, rs397507510, rs397507514, rs397507517, rs397507518, rs397507520, rs397507529, rs397507537, rs397507540, rs397507541, rs397507542, rs397507545, rs121918470 View all (20 more) |
RCV001813395 RCV001813410 RCV001813411 RCV001813438 RCV001813190 RCV001813191 RCV001813192 RCV001813193 RCV001813194 RCV001813195 RCV001813196 RCV001813197 RCV001813198 RCV001813199 RCV001813200 RCV001813201 RCV001813202 RCV001813203 RCV000788007 RCV001813241 RCV000788006 RCV001813242 RCV001813243 RCV001813244 RCV001813245 RCV001813246 RCV001813247 RCV001813248 RCV001813249 RCV001813250 RCV001813251 RCV001813256 RCV001813257 RCV001813258 RCV001813259 RCV001813260 RCV001813261 RCV001813372 RCV001813585 |
| Noonan syndrome with multiple lentigines |
Pathogenic; Likely pathogenic |
rs121918456, rs121918457, rs121918468, rs121918469, rs121918470, rs121918453, rs397507523, rs397507527, rs397507529, rs397507537, rs397507541, rs397507542, rs397507548, rs397507549 |
RCV000030620 RCV000208002 RCV000037611 RCV000824746 RCV000520822 RCV003103718 RCV000824743 RCV004700300 RCV000824745 RCV000037612 RCV001804754 RCV000824747 RCV000824748 RCV000154371 RCV000824751 |
| Pectus excavatum |
Pathogenic |
rs397507520 |
RCV001003604 |
| Pigmentary skin disorders |
Pathogenic |
rs121918470 |
RCV006261937 |
| Pilocytic astrocytoma |
Likely pathogenic; Pathogenic |
rs121918453, rs886039463, rs121918459, rs121918463 |
RCV006253839 RCV006253932 RCV006253545 RCV006253546 |
| Ptosis |
Pathogenic |
rs397507520 |
RCV001003604 |
| PTPN11-related disorder |
Likely pathogenic; Pathogenic |
rs727503381, rs2540425549, rs28933386, rs121918455, rs121918456, rs121918460, rs121918461, rs121918457, rs121918458, rs121918459, rs121918463, rs121918466, rs121918468, rs121918469, rs121918470, rs923052172, rs397507501, rs397507504, rs397507505, rs397507507, rs397507509, rs397507510, rs397507512, rs397507514, rs397507520, rs376607329, rs397507527, rs397507529, rs397507530, rs397507531, rs397507540, rs397507541, rs397507545, rs397507547, rs397507548, rs397507549, rs397507550 View all (22 more) |
RCV004734709 RCV004529793 RCV004541002 RCV004532339 RCV004528108 RCV004532340 RCV004532341 RCV000723326 RCV004532342 RCV004528109 RCV004532343 RCV004532344 RCV004532345 RCV004532346 RCV004541003 RCV004734518 RCV004725202 RCV005222713 RCV004528152 RCV004532483 RCV004532484 RCV005229843 RCV004724759 RCV004532485 RCV004532486 RCV004734537 RCV004528153 RCV000723292 RCV004545735 RCV003387505 RCV004734538 RCV004532490 RCV004532491 RCV004532492 RCV004532493 RCV004532494 RCV004532495 RCV004532496 RCV004541060 RCV004545736 RCV004532497 RCV004527734 RCV004528333 |
| RASopathy |
Pathogenic; Likely pathogenic |
rs2135902177, rs2038154558, rs2135856266, rs2135916018, rs2135862367, rs397507546, rs121918461, rs121918453, rs727503381, rs397507505, rs121918464, rs121918463, rs397507539, rs2038442836, rs397507513, rs2135916511, rs727503380, rs2540452270, rs2135867567, rs748952554, rs2540425577, rs2135866938, rs2540415610, rs121918454, rs28933386, rs121918455, rs121918456, rs121918460, rs121918457, rs121918458, rs121918459, rs121918462, rs121918465, rs121918466, rs121918468, rs121918469, rs121918470, rs80338836, rs267606989, rs267606990, rs2135915222, rs2499756229, rs1013419211, rs397507507, rs1555267558, rs1052382672, rs397507501, rs397507503, rs397507504, rs397507506, rs397507508, rs397507509, rs397507510, rs397507511, rs397507512, rs397507514, rs397507517, rs397507518, rs397507519, rs397507520, rs397507523, rs397507524, rs397507525, rs397507526, rs376607329, rs397507527, rs397507529, rs397507530, rs397507531, rs397507537, rs397507540, rs397507541, rs397507542, rs397507543, rs397507544, rs397507545, rs397507547, rs397507548, rs397507549, rs397507550, rs397516801, rs397516803, rs397516807, rs397516810, rs1391791847, rs765642157, rs1566186833, rs397509345, rs397507536, rs2038105603, rs2038127324, rs2038713813, rs2038103354, rs2038606313, rs2038125958, rs2540416086 View all (81 more) |
RCV001384646 RCV001964503 RCV001972154 RCV001977628 RCV001900611 RCV000149849 RCV000780656 RCV000154367 RCV000654965 RCV001174933 RCV002281971 RCV001526955 RCV002515083 RCV003041175 RCV002623226 RCV002577202 RCV002823966 RCV002856223 RCV002816446 RCV002853422 RCV002876768 RCV003013822 RCV003041131 RCV000033471 RCV000707460 RCV000033516 RCV000033518 RCV000033504 RCV000033466 RCV000033464 RCV000033533 RCV001851849 RCV000033468 RCV000033475 RCV000458650 RCV000781775 RCV000033480 RCV000529342 RCV000033531 RCV000033554 RCV000780654 RCV002513041 RCV001205820 RCV000694389 RCV003539611 RCV003540107 RCV003540157 RCV003540328 RCV001201204 RCV000534502 RCV000531774 RCV000227194 RCV000809051 RCV000557839 RCV000456871 RCV000234028 RCV000556984 RCV000588173 RCV001219186 RCV000033460 RCV000459297 RCV005089335 RCV000033463 RCV000687319 RCV002001115 RCV000033469 RCV000686123 RCV001852674 RCV003654180 RCV000033478 RCV000472904 RCV000033483 RCV000815390 RCV001221785 RCV000033490 RCV000033491 RCV000033497 RCV000033498 RCV000522926 RCV000526885 RCV000477501 RCV000703823 RCV000033505 RCV001852676 RCV000231840 RCV000033513 RCV001193110 RCV001060541 RCV000231162 RCV000694590 RCV000033536 RCV001378165 RCV000033538 RCV000033539 RCV000033540 RCV000466382 RCV001731329 RCV000781773 RCV000033545 RCV000033546 RCV000532971 RCV000033549 RCV000033550 RCV000033553 RCV000521890 RCV002514147 RCV000206837 RCV003764672 RCV003654184 RCV000587886 RCV000687570 RCV002531416 RCV002544702 RCV000697357 RCV000692146 RCV002513672 RCV000049230 RCV001064303 RCV001056808 RCV001210345 RCV001211975 RCV001207607 RCV001235274 RCV001238086 RCV001241165 RCV002537612 |
| Rosette-forming glioneuronal tumor |
Likely pathogenic; Pathogenic |
rs121918453 |
RCV006253840 |
| Scoliosis |
Pathogenic |
rs397507542 |
RCV000626828 |
| See cases |
Pathogenic; Likely pathogenic |
rs121918462, rs121918465, rs267606990, rs397507507, rs121918455, rs397507549, rs397507509 |
RCV005887497 RCV005887498 RCV003156060 RCV003985264 RCV002287350 RCV002251945 RCV002287357 |
| Short stature |
Pathogenic; Likely pathogenic |
rs121918461, rs397507540 |
RCV000626829 RCV001730478 |
| Specific learning disability |
Pathogenic |
rs397507542 |
RCV000626828 |
| Strabismus |
Likely pathogenic; Pathogenic |
rs397507540 |
RCV001730478 |
| Thrombocytopenia |
Pathogenic |
rs28933386 |
RCV001270562 |
| Vascular disorder |
Pathogenic |
rs121918462 |
RCV005624687 |
| Ventricular tachycardia |
Likely pathogenic |
rs1592847299 |
RCV000852441 |
|
| Disease Name |
Relationship Type |
References |
| Achondroplasia |
Associate |
30355600 |
| Acrocephalosyndactylia |
Associate |
23726368 |
| Adenocarcinoma |
Associate |
26317919 |
| Adenocarcinoma of Lung |
Associate |
26066407, 29483824, 38280930 |
| Adenocarcinoma of Lung |
Inhibit |
35802774 |
| Anodontia |
Associate |
33167018 |
| Arthritis Rheumatoid |
Associate |
23335101 |
| Ascites |
Associate |
23321623 |
| Astrocytoma |
Associate |
32859279, 35778969 |
| Atrial Fibrillation |
Associate |
37263975 |
| Atrioventricular Septal Defect |
Associate |
22781091 |
| Atrophy |
Associate |
17211494, 18712962, 19589142, 22788847 |
| Autonomic Nervous System Diseases |
Associate |
35778969 |
| Blood Coagulation Disorders Inherited |
Associate |
20577567 |
| Bone Diseases Metabolic |
Associate |
37525886 |
| Brain Diseases |
Associate |
38545656 |
| Brain Injuries Diffuse |
Associate |
37960778 |
| Brain Neoplasms |
Associate |
36973520 |
| Breast Neoplasms |
Associate |
17537730, 23672411, 33755016, 35365185, 35739379, 36969745 |
| Breast Neoplasms |
Inhibit |
35802774 |
| Buschke Lowenstein Tumor |
Associate |
18543080 |
| Cafe au Lait Spots |
Associate |
12058348, 12161596 |
| Carcinogenesis |
Associate |
21695063, 26158864, 26695153, 37344519 |
| Carcinoma Giant Cell |
Associate |
19352411, 29848529 |
| Carcinoma Hepatocellular |
Inhibit |
25198338, 28460481 |
| Carcinoma Hepatocellular |
Associate |
25198338, 35503714 |
| Carcinoma Large Cell |
Associate |
26317919 |
| Carcinoma Non Small Cell Lung |
Associate |
22777356, 27530552, 30473379, 31373232, 32819122, 33324391, 34437586, 34490728, 37445722, 37934115 |
| Carcinoma Pancreatic Ductal |
Associate |
26695153 |
| Carcinoma Renal Cell |
Associate |
26911335 |
| Carcinoma Renal Cell |
Inhibit |
35802774 |
| Carcinoma Squamous Cell |
Associate |
23822953 |
| Cardiofaciocutaneous syndrome |
Associate |
31560489 |
| Cardiomegaly |
Associate |
30732632 |
| Cardiomyopathies |
Associate |
29030401, 36357925 |
| Cardiomyopathy Hypertrophic |
Associate |
11992261, 22585553, 29030401, 29696744, 30732632, 30784236, 32150461, 32824488, 37466024, 38277535 |
| Carotid Stenosis |
Associate |
37644056 |
| Cell Transformation Neoplastic |
Associate |
35739379 |
| Central Nervous System Vascular Malformations |
Associate |
36864519 |
| Cerebral Infarction |
Associate |
36691064 |
| Cherubism |
Associate |
29848529 |
| Chondroma |
Associate |
29373887 |
| Chordoma |
Associate |
37024492 |
| Chromosome Aberrations |
Associate |
34847232 |
| Chronobiology Disorders |
Associate |
26456833 |
| Chylothorax |
Associate |
36544606 |
| Ciuffo Syndrome |
Associate |
34488904 |
| Cognition Disorders |
Associate |
19077116, 33119062 |
| Colitis Ulcerative |
Associate |
19160029 |
| Colorectal Neoplasms |
Associate |
21528083, 28675510, 29693170, 34083590, 38358185 |
| Congenital Abnormalities |
Associate |
22585553, 36849876 |
| Coronary Disease |
Inhibit |
27997991 |
| Costello Syndrome |
Associate |
17483702, 30355600, 31560489 |
| Cryptorchidism |
Associate |
32164556 |
| Cytokine Release Syndrome |
Associate |
23335101 |
| Daneman Davy Mancer syndrome |
Associate |
23321623 |
| Darier Disease |
Associate |
9529352 |
| Deafness |
Associate |
24891296, 34488904, 35248088 |
| Death |
Associate |
34847232 |
| Demyelinating Diseases |
Associate |
28729690 |
| Dengue |
Associate |
21502191 |
| Developmental Disabilities |
Associate |
14644997, 24891296, 27030275, 32188694, 32871078, 33119062, 33452774, 34411482, 36849876, 36973520, 37344519, 38085330, 38129686 |
| Disease |
Associate |
31439678, 33226994 |
| Disorder of Sex Development 46 XY |
Associate |
33424767 |
| Down Syndrome |
Associate |
27666924 |
| Drug Related Side Effects and Adverse Reactions |
Associate |
37339995 |
| Dwarfism Pituitary |
Associate |
36714562 |
| Edema |
Associate |
32144894 |
| Encephalitis Tick Borne |
Associate |
34459887 |
| Endometrial Neoplasms |
Associate |
32619126, 9408887 |
| Endometriosis |
Associate |
32619126 |
| Eosinophilic enteropathy |
Associate |
40514730 |
| Epidermolysis bullosa simplex Ogna type |
Associate |
28675510 |
| Epilepsy |
Associate |
36973520 |
| Epilepsy Familial Mesial Temporal Lobe |
Associate |
37126322 |
| Exostoses Multiple Hereditary |
Associate |
40225915 |
| Facial Dysmorphism with Multiple Malformations |
Associate |
15248152, 24891296 |
| Fetal Diseases |
Associate |
36349709 |
| Fibrosarcoma |
Associate |
9794795 |
| Fibrosis |
Associate |
28460481 |
| Focal cortical dysplasia of Taylor |
Associate |
36864519 |
| Funnel Chest |
Associate |
39596579 |
| Ganglioglioma |
Associate |
36973520 |
| Gastritis Atrophic |
Associate |
26158864 |
| Genetic Diseases Inborn |
Associate |
15987685, 18854871, 20577567, 24628801, 33686258 |
| Glioblastoma |
Associate |
14701753, 21934682, 27579614, 35121903 |
| Glioma |
Associate |
28620155, 35484611, 36462464, 37845206 |
| Gliosarcoma |
Associate |
34162346 |
| Growth Disorders |
Associate |
15248152, 16498234, 23624134, 24891296, 30541462, 32164556, 36714562, 37605180 |
| Head and Neck Neoplasms |
Associate |
20700123, 23363816, 39596579 |
| Head and Neck Neoplasms |
Inhibit |
35802774 |
| Hearing Loss |
Associate |
19864201, 35248088, 35982127, 37017887 |
| Heart Defects Congenital |
Associate |
15248152, 22503907, 22781091, 30732632, 32144894, 32341405, 35440950, 36496429 |
| Heart Diseases |
Associate |
14644997, 23321623, 32037394, 32365526, 33452774, 34488904, 39596579 |
| Heart Failure |
Associate |
30732632 |
| Heart hand syndrome Spanish type |
Associate |
32164556 |
| Heart Septal Defects Atrial |
Associate |
30784236, 35440950 |
| Helicobacter Infections |
Associate |
26158864, 27614952 |
| Hemangioblastoma |
Associate |
26768750 |
| Hematologic Neoplasms |
Associate |
15987685, 28098151, 32794475, 34411482, 38129686 |
| Hemochromatosis |
Associate |
35002956 |
| Hemorrhage |
Associate |
34857025, 37302266, 38236412 |
| Hepatitis B |
Associate |
23672411 |
| Hepatitis Chronic |
Stimulate |
28460481 |
| Hereditary pancreatitis |
Associate |
19822020 |
| Hernia Inguinal |
Associate |
31910207 |
| Histiocytic Sarcoma |
Associate |
30626916, 31439678 |
| Hydrops Fetalis |
Associate |
23321623, 32144894, 33686258, 35397126, 36959127 |
| Hydrothorax |
Associate |
23321623 |
| Hypereosinophilic Syndrome |
Associate |
40514730 |
| Hyperinsulinism |
Associate |
25042561 |
| Hyperplasia |
Associate |
21695063 |
| Hypertelorism |
Associate |
32164556 |
| Hypertension |
Associate |
25820152 |
| Hypothyroidism |
Associate |
33226994 |
| Hypoxia |
Inhibit |
24860972 |
| Infections |
Associate |
20004456, 27186639 |
| Inflammation |
Associate |
23363816 |
| Influenza Human |
Associate |
22419161, 35396627, 37445672 |
| Intellectual Disability |
Associate |
19864201 |
| Intestinal Diseases |
Associate |
19822020 |
| Intracranial Hemorrhages |
Associate |
34904514 |
| Ischemia |
Associate |
25672415 |
| Isodicentric Chromosome 15 Syndrome |
Associate |
34847232 |
| Keratoconus |
Associate |
29948256 |
| Laron Syndrome |
Associate |
34136918 |
| Learning Disabilities |
Associate |
32341405 |
| Lentigo |
Associate |
39596579 |
| LEOPARD Syndrome |
Associate |
12058348, 12161596, 16358218, 18854871, 19864201, 20535210, 22585553, 24628801, 24767283, 24775816, 24891296, 24939587, 25708222, 25917897, 29084544, 30640061, 31277675, 31560489, 32365526, 32871078, 34009903, 34488904 View all (7 more) |
| Leukemia |
Associate |
14644997, 14982869, 16030196, 16358218, 17053061, 20510203, 21365683, 23082805, 27030275, 28729690, 31657576, 32188694, 33284559, 34411482, 34896393, 34981560, 35350997 View all (2 more) |
| Leukemia Lymphocytic Chronic B Cell |
Associate |
23167493, 36567979 |
| Leukemia Monocytic Acute |
Associate |
14982869 |
| Leukemia Myelogenous Chronic BCR ABL Positive |
Associate |
16278304, 23754495, 35896598 |
| Leukemia Myeloid |
Associate |
14644997, 17942397, 23082805 |
| Leukemia Myeloid Acute |
Associate |
14982869, 18328949, 22131879, 25573287, 27992414, 29437595, 30760869, 33081843, 33730843, 34064268, 34459887, 34847232, 34896393, 35390143, 35562747, 35833755, 35895896, 36318614, 37937729 View all (4 more) |
| Leukemia Myeloid Chronic Atypical BCR ABL Negative |
Associate |
28314085 |
| Leukemia Myelomonocytic Chronic |
Associate |
20880116 |
| Leukemia Myelomonocytic Juvenile |
Associate |
14644997, 14982869, 15928039, 18000165, 19874312, 20408841, 22753870, 23092099, 23620576, 23696637, 23918763, 26316488, 26456833, 26983639, 28098151, 28179213, 29259247, 29884903, 31657576, 31807902, 33139265, 37445722 View all (7 more) |
| Leukemia Promyelocytic Acute |
Associate |
26886259 |
| Leukemia T Cell |
Associate |
36380727 |
| Lissencephaly X Linked 2 |
Associate |
34488904 |
| Liver Neoplasms |
Associate |
35503714 |
| Lung Neoplasms |
Associate |
23822953, 26056041, 37339995, 37445722, 38280930 |
| Lupus Erythematosus Systemic |
Stimulate |
31616406 |
| Lymphangioma Cystic |
Associate |
23321623 |
| Lymphatic Abnormalities |
Associate |
35778409, 36959127 |
| Lymphatic Diseases |
Associate |
23321623 |
| Lymphatic Metastasis |
Associate |
23321164, 27614952, 38358185 |
| Lymphatic Metastasis |
Stimulate |
24439919 |
| Lymphedema |
Associate |
22529953 |
| Lymphoma |
Associate |
25193962 |
| Lymphoma B Cell |
Associate |
31439678 |
| Lymphoma B Cell Marginal Zone |
Associate |
27864293 |
| Lymphoma Large Cell Anaplastic |
Associate |
17483340, 32054954 |
| Lymphoma Non Hodgkin |
Associate |
24885312, 29599344, 36226386 |
| Macular Degeneration |
Associate |
35186229 |
| Malformations of Cortical Development |
Associate |
36226386 |
| Malformations of Cortical Development Group I |
Associate |
24809452 |
| Marfan Syndrome |
Associate |
33226994 |
| Mediastinal Neoplasms |
Associate |
18328949 |
| Medulloblastoma |
Associate |
28035977 |
| Megalencephaly |
Associate |
24939587 |
| Melanoma |
Associate |
25917897, 28870692 |
| Metachondromatosis |
Associate |
20577567, 21533187, 29373887, 29703018, 40225915 |
| Mitral Valve Insufficiency |
Associate |
22781091 |
| Mouth Neoplasms |
Associate |
24439919 |
| Multiple Myeloma |
Associate |
10880513, 28369102, 29884741 |
| Multiple Pterygium Syndrome Autosomal Dominant |
Associate |
22503907 |
| Multiple System Atrophy |
Associate |
36973520 |
| Musculoskeletal Abnormalities |
Associate |
32365526 |
| Mycosis Fungoides |
Associate |
34831413 |
| Myelodysplastic Syndromes |
Associate |
24212846, 27884971, 27992414, 32476595, 36380727, 40725152 |
| Myeloproliferative Disorder Chronic with Eosinophilia |
Associate |
35778969 |
| Myeloproliferative Disorders |
Associate |
15928039, 28729690 |
| Myopia |
Associate |
29346494 |
| Narcolepsy |
Associate |
23950869 |
| Nasopharyngeal Carcinoma |
Associate |
25109634, 36107539 |
| Neoplasm Metastasis |
Associate |
23672411, 25331952, 34389690, 34896393, 35739379, 36969745, 38358185 |
| Neoplasms |
Associate |
14644997, 15987685, 18328949, 18645011, 19915046, 20004456, 21407260, 23321164, 23672411, 23980151, 24860972, 25331952, 26204488, 26491227, 27030275, 27683039, 29599344, 29884741, 31439678, 32001483, 32079522, 32087721, 32188694, 32794475, 32819122, 32859279, 33413561, 33507258, 33577785, 33755016, 34389690, 34411482, 34437586, 34490728, 34725361, 34896393, 35408869, 35484611, 35503714, 35802774, 35896598, 36349709, 36681091, 36828281, 36969745, 37269335, 37302266, 37339995, 37344519, 37843608, 38085330, 38129686, 38358185 View all (38 more) |
| Neoplasms |
Stimulate |
24439919 |
| Neoplasms |
Inhibit |
24809452, 25198338, 27077911, 28460481, 29703018 |
| Neoplasms Neuroepithelial |
Associate |
32859279 |
| Netherton Syndrome |
Associate |
29948256, 33226994 |
| Neuroblastoma |
Associate |
18328949, 37161925 |
| Neurodegenerative Diseases |
Associate |
25672415, 37960778 |
| Neurodevelopmental Disorders |
Associate |
36430334 |
| Neurofibromatosis Noonan syndrome |
Associate |
26757980 |
| Neurofibrosarcoma |
Associate |
32590748, 33452215 |
| Neurologic Manifestations |
Associate |
32493428 |
| Neutropenia Severe Congenital Autosomal Recessive 3 |
Stimulate |
10378893 |
| Nonsyndromic Deafness |
Associate |
29346494 |
| Noonan like syndrome |
Associate |
11992261, 19352411, 29848529 |
| Noonan Syndrome |
Associate |
11992261, 12058348, 12161596, 12529707, 14644997, 14982869, 15248152, 15928039, 15987685, 16358218, 16498234, 16990350, 17056636, 17339163, 17483702, 18328949, 18854871, 19077116, 19352411, 19760651, 20186801, 20602484, 21365683, 21407260, 22253195, 22465605, 22503907, 22605701, 22711529, 22777296, 23321623, 23624134, 23726368, 23756559, 23771920, 24183200, 24219368, 24220280, 24628801, 24754368, 24891296, 24939587, 25611800, 26084119, 26444854, 26456833, 28607217, 28921562, 29084544, 29848529, 29907801, 29948256, 30059958, 30541462, 30784236, 31277675, 31292302, 31560489, 31657576, 31936901, 32144894, 32164556, 32394265, 32493428, 32546215, 32721402, 32824488, 32867556, 33119062, 33167018, 33686258, 34009903, 34032360, 34136918, 34904514, 35002956, 35778409, 36349709, 36430334, 36544606, 36566191, 36973520, 37302266, 37407569, 37525886, 37588986, 38160629, 38236412, 38254922, 39596579, 39596663, 40514730 View all (77 more) |
| Noonan Syndrome |
Stimulate |
38085330 |
| Optic Nerve Glioma |
Associate |
33098465 |
| Oral Submucous Fibrosis |
Associate |
38050610 |
| Osteochondrodysplasias |
Associate |
30541462 |
| Osteochondroma |
Associate |
29373887, 37525886, 40225915 |
| Osteosarcoma |
Associate |
35024182 |
| Ovarian Diseases |
Associate |
32619126 |
| Papillomavirus Infections |
Associate |
18543080 |
| Patel Bixler syndrome |
Associate |
24037001 |
| Pediatric Obesity |
Associate |
28729690 |
| Peptic Ulcer |
Associate |
18712962 |
| Peripheral Arterial Disease |
Associate |
34601942 |
| Peripheral Arterial Occlusive Disease 1 |
Associate |
32481342 |
| Periventricular Nodular Heterotopia |
Associate |
36226386 |
| Polycythemia Vera |
Associate |
26491227 |
| Polyhydramnios |
Associate |
23321623 |
| Polymicrogyria |
Associate |
36226386 |
| Porokeratosis punctata palmaris et plantaris |
Inhibit |
24037001 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate |
14982869, 27683039, 28245838, 28408464, 31102422 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate |
15667533, 15842656, 23167493, 27022003, 31409822, 36380727 |
| Premature Birth |
Associate |
28729690 |
| Pressure Ulcer |
Associate |
25820152 |
| Progressive Transformation of Germinal Centers |
Associate |
25193962 |
| Prostatic Neoplasms |
Associate |
23192641 |
| Prostatitis |
Associate |
23192641 |
| Pulmonary Valve Stenosis |
Associate |
11992261, 24891296, 30784236, 39596663 |
| Rectal Neoplasms |
Associate |
36142267 |
| Refractive Errors |
Associate |
29346494 |
| Reperfusion Injury |
Associate |
25672415 |
| Salter Harris Fractures |
Associate |
36714562 |
| Sarcoma Ewing |
Associate |
27077911 |
| Sarcoma Myeloid |
Associate |
30922345, 35562747 |
| Seizures |
Associate |
36973520 |
| Sertoli Cell Only Syndrome |
Associate |
25193962 |
| Sex Chromosome Disorders of Sex Development |
Associate |
33424767 |
| SHORT syndrome |
Associate |
32546215 |
| Silver Russell Syndrome |
Associate |
32546215 |
| Simpson Golabi Behmel syndrome |
Associate |
35778969 |
| Skin Abnormalities |
Associate |
12161596 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
20700123, 24439919, 25980437, 26204488, 34663837, 38231444 |
| Stickler syndrome type 1 |
Associate |
30541462 |
| Stomach Neoplasms |
Associate |
17211494, 19589142, 19822020, 22325465, 22788847, 23321164, 23382639, 23464450, 26158864, 27614952 |
| Stomach Neoplasms |
Inhibit |
26158864 |
| Stroke Lacunar |
Associate |
35733147 |
| Syndrome |
Associate |
32546215 |
| Tertiary Lymphoid Structures |
Stimulate |
23672411 |
| Tetralogy of Fallot |
Associate |
22503907 |
| Thrombocythemia Essential |
Associate |
26990535 |
| Thrombocytopenia |
Associate |
32144894, 34904514 |
| Thrombocytopenia Neonatal Alloimmune |
Associate |
34904514 |
| Thrombosis |
Associate |
37302266, 38236412, 38358185 |
| Thyroid Neoplasms |
Associate |
33413561 |
| Thyroid Nodule |
Inhibit |
28460481 |
| Tourette Syndrome |
Associate |
29084544 |
| Triple Negative Breast Neoplasms |
Associate |
25885600, 34389690, 36788078 |
| Uterine Cervical Neoplasms |
Associate |
18543080 |
| Vascular Malformations |
Associate |
35778969 |
| Xanthogranuloma Juvenile |
Associate |
34032360 |
| Zika Virus Infection |
Associate |
30044847 |
|