|
G |
Foxc2 |
forkhead box C2 |
|
ISO |
lymphedema and ptosis,OMIM:153000;DNA:deletion:505delA |
RGD |
PMID:11371511 |
RGD:1601216 |
NCBI chr19:53,044,379...53,047,081
Ensembl chr19:53,044,379...53,047,081
|
|
G |
Lrrk2 |
leucine-rich repeat kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31174552 |
|
NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
|
|
G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Ptosis |
ClinVar |
PMID:25741868 |
|
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
|
|
G |
Opa1 |
OPA1, mitochondrial dynamin like GTPase |
|
ISO |
ClinVar Annotator: match by term: EYELID PTOSIS |
ClinVar |
PMID:19303950 PMID:20157015 PMID:22857269 PMID:25741868 PMID:26467025 PMID:27890673 PMID:28492532 |
|
NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
|
|
G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO |
ClinVar Annotator: match by term: Eyelid ptosis |
ClinVar |
PMID:11992261 PMID:14644997 PMID:15539800 PMID:15987685 PMID:16358218 PMID:17020470 PMID:17339163 PMID:17361219 PMID:18372317 PMID:19020799 PMID:19737548 PMID:20308328 PMID:21706501 PMID:21901340 PMID:22315187 PMID:23584145 PMID:24033266 PMID:24628801 PMID:25585602 PMID:25741868 PMID:28363362 PMID:28492532 PMID:30311386 PMID:32581362 |
|
NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
|
|
G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: EYELID PTOSIS |
ClinVar |
PMID:18564 PMID:9497245 PMID:10484775 PMID:11575529 PMID:12059893 PMID:12220451 PMID:12434264 PMID:16084090 PMID:16835904 PMID:16917943 PMID:19648156 PMID:19919814 PMID:23558838 PMID:23919265 PMID:24033266 PMID:24433488 PMID:25558065 PMID:25741868 PMID:25960145 PMID:27586648 PMID:28492532 |
|
NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
|
|
G |
Sil1 |
SIL1 nucleotide exchange factor |
|
ISO |
ClinVar Annotator: match by term: Ptosis |
ClinVar |
PMID:32581362 |
|
NCBI chr18:28,067,476...28,302,008
Ensembl chr18:28,067,484...28,301,863
|
|
G |
Sos1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Eyelid ptosis |
ClinVar |
PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 PMID:23487764 PMID:24033266 PMID:24458522 PMID:25741868 PMID:28492532 PMID:30784236 |
|
NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
|
|
G |
Syngap1 |
synaptic Ras GTPase activating protein 1 |
|
ISO |
ClinVar Annotator: match by term: Eyelid ptosis |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr20:5,535,434...5,564,657
Ensembl chr20:5,535,432...5,564,437
|
|
|
G |
Colec11 |
collectin sub-family member 11 |
|
ISO |
ClinVar Annotator: match by term: Carnevale syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:265050 |
OMIM ClinVar CTD |
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 |
|
NCBI chr 6:47,857,767...47,889,961
Ensembl chr 6:47,857,771...47,890,033
|
|
G |
Masp1 |
MBL associated serine protease 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258343 |
|
NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
|
|
G |
Slc26a2 |
solute carrier family 26 member 2 |
|
ISO |
ClinVar Annotator: match by term: OSA syndrome |
ClinVar |
PMID:8528239 PMID:8571951 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11565064 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:18708426 PMID:18925670 PMID:20219950 PMID:20301524 PMID:20525296 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 |
|
NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
|
|
|
G |
Actb |
actin, beta |
|
ISS ISO |
OMIM:243310 | OMIM:614583 ClinVar Annotator: match by term: Cerebrofrontofacial syndrome ClinVar Annotator: match by term: Baraitser-Winter syndrome |
MouseDO ClinVar |
PMID:12325076 PMID:16685646 PMID:22366783 PMID:25052316 PMID:25741868 PMID:28492532 |
|
NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
|
|
G |
Actg1 |
actin, gamma 1 |
|
ISS |
OMIM:243310 | OMIM:614583 |
MouseDO |
|
|
NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954 Ensembl chr10:75,643,054...75,644,954
|
|
|
G |
Actb |
actin, beta |
|
ISO |
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation ClinVar Annotator: match by OMIM:243310 |
OMIM ClinVar |
PMID:1415343 PMID:10327243 PMID:10411937 PMID:10928857 PMID:11311002 PMID:12325076 PMID:16685646 PMID:18414213 PMID:22366783 PMID:23649928 PMID:23756437 PMID:24033266 PMID:25052316 PMID:25156961 PMID:25741868 PMID:25979418 PMID:26467025 PMID:28492532 PMID:29220674 PMID:29261186 PMID:32860008 |
|
NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
|
|
|
G |
Actg1 |
actin, gamma 1 |
|
ISO |
ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 ClinVar Annotator: match by OMIM:614583 |
OMIM ClinVar |
PMID:3351890 PMID:18414213 PMID:22366783 PMID:24033266 PMID:25052316 PMID:25741868 PMID:29671837 |
|
NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954 Ensembl chr10:75,643,054...75,644,954
|
|
|
G |
Dusp29 |
dual specificity phosphatase 29 |
|
ISO |
ClinVar Annotator: match by term: Young Simpson syndrome |
ClinVar |
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23436491 PMID:25326637 PMID:25741868 PMID:27696664 |
|
NCBI chr15:2,766,929...2,806,573
Ensembl chr15:2,766,710...2,806,536
|
|
G |
Kat6b |
lysine acetyltransferase 6B |
|
ISO |
DNA:mutations:cds:multiple (human) ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type ClinVar Annotator: match by term: Young Simpson syndrome ClinVar Annotator: match by OMIM:603736 |
ClinVar OMIM |
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:26334766 PMID:26938784 PMID:27696664 PMID:28758091 PMID:30353918, PMID:22077973 |
RGD:9588484 |
NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
|
|
|
G |
Phox2a |
paired-like homeobox 2a |
|
ISO |
ClinVar Annotator: match by OMIM:602078 |
OMIM ClinVar |
PMID:11600883 |
|
NCBI chr 1:166,893,734...166,898,252
Ensembl chr 1:166,893,734...166,898,252
|
|
|
G |
Chd8 |
chromodomain helicase DNA binding protein 8 |
|
ISO |
ClinVar Annotator: match by term: Congenital ptosis |
ClinVar |
PMID:25741868 PMID:32267004 |
|
NCBI chr15:28,612,932...28,672,574
Ensembl chr15:28,612,932...28,672,569
|
|
G |
Zfhx4 |
zinc finger homeobox 4 |
|
ISS |
OMIM:178300 | OMIM:300245 |
MouseDO |
|
|
NCBI chr 2:98,423,565...98,610,368
Ensembl chr 2:98,423,569...98,610,368
|
|
|
G |
Zfhx4 |
zinc finger homeobox 4 |
|
ISO |
ClinVar Annotator: match by term: Ptosis, hereditary congenital 1 |
OMIM ClinVar |
PMID:25741868 |
|
NCBI chr 2:98,423,565...98,610,368
Ensembl chr 2:98,423,569...98,610,368
|
|
|
G |
Brpf1 |
bromodomain and PHD finger containing, 1 |
|
ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis |
ClinVar OMIM |
PMID:25741868 PMID:27939639 PMID:27939640 |
|
NCBI chr 4:145,264,445...145,280,943
Ensembl chr 4:145,264,462...145,280,857
|
|
|
G |
Med12 |
mediator complex subunit 12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr X:71,174,653...71,197,812
Ensembl chr X:71,174,699...71,197,812
|
|
|
G |
Med12 |
mediator complex subunit 12 |
|
ISO |
ClinVar Annotator: match by term: Ohdo syndrome, X-linked ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE DNA:missense mutations:cds:c.3443G>A (p.R1148H),c.3493T>C (p.S1165P),c.5185C>A (p.H1729N)(human) ClinVar Annotator: match by OMIM:300895 |
OMIM ClinVar |
PMID:8279489 PMID:10405444 PMID:16700052 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20981778 PMID:23091001 PMID:23395478 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26350204 PMID:28369444 PMID:32715471, PMID:23395478 |
RGD:12910951 |
NCBI chr X:71,174,653...71,197,812
Ensembl chr X:71,174,699...71,197,812
|
|
|
G |
Pnpla6 |
patatin-like phospholipase domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Oliver-McFarlane syndrome ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome |
ClinVar OMIM |
PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:24355708 PMID:25480986 PMID:25574898 PMID:25741868 PMID:28492532 |
|
NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
|
|