Term: | Abnormal palate morphology |
|
Accession: | HP:0000174
|
browse the term
|
Definition: | Any abnormality of the palate, i.e., of roof of the mouth. |
Synonyms: | exact_synonym: | Abnormality of the palate; Abnormality of the roof of the mouth; Palatal anomaly; Palate abnormality |
| xref: | UMLS:C4021815 |
|
|
|
G |
ANTXR1 |
ANTXR cell adhesion molecule 1 |
|
IAGP |
|
HPO |
|
ORPHA:2067 |
NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327
|
|
G |
ATP7A |
ATPase copper transporting alpha |
|
IAGP |
|
HPO |
|
ORPHA:565 |
NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395
|
|
G |
BCOR |
BCL6 corepressor |
|
IAGP |
|
HPO |
|
ORPHA:2712 |
NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329
|
|
G |
COL12A1 |
collagen type XII alpha 1 chain |
|
IAGP |
|
HPO |
|
ORPHA:75840 |
NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267
|
|
G |
COL6A1 |
collagen type VI alpha 1 chain |
|
IAGP |
|
HPO |
|
ORPHA:75840 |
NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
|
|
G |
COL6A2 |
collagen type VI alpha 2 chain |
|
IAGP |
|
HPO |
|
ORPHA:75840 |
NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
|
|
G |
COL6A3 |
collagen type VI alpha 3 chain |
|
IAGP |
|
HPO |
|
ORPHA:75840 |
NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
|
|
G |
DDX3X |
DEAD-box helicase 3 X-linked |
|
IAGP |
|
HPO |
|
ORPHA:3338 |
NCBI chr X:41,333,308...41,364,472
Ensembl chr X:41,333,348...41,364,472
|
|
G |
EXT1 |
exostosin glycosyltransferase 1 |
|
IAGP |
|
HPO |
|
ORPHA:502 |
NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
|
|
G |
FGFR2 |
fibroblast growth factor receptor 2 |
|
IAGP |
|
HPO |
|
ORPHA:1540 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
|
|
G |
FGFR3 |
fibroblast growth factor receptor 3 |
|
IAGP |
|
HPO |
|
ORPHA:93262 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
|
|
G |
FIG4 |
FIG4 phosphoinositide 5-phosphatase |
|
IAGP |
|
HPO |
|
ORPHA:208441 |
NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
|
|
G |
FLI1 |
Fli-1 proto-oncogene, ETS transcription factor |
|
IAGP |
|
HPO |
|
ORPHA:2308 |
NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267
|
|
G |
KDM1A |
lysine demethylase 1A |
|
IAGP |
|
HPO |
|
ORPHA:477993 |
NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689
|
|
G |
KIF1A |
kinesin family member 1A |
|
IAGP |
|
HPO |
|
ORPHA:2836 |
NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
|
|
G |
NIPA1 |
NIPA magnesium transporter 1 |
|
IAGP |
|
HPO |
|
ORPHA:261183 |
NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789
|
|
G |
NIPA2 |
NIPA magnesium transporter 2 |
|
IAGP |
|
HPO |
|
ORPHA:261183 |
NCBI chr15:22,838,666...22,868,384
Ensembl chr15:22,838,644...22,869,362
|
|
G |
NLRP3 |
NLR family pyrin domain containing 3 |
|
IAGP |
|
HPO |
|
ORPHA:575 |
NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,416,156...247,449,108
|
|
G |
NXN |
nucleoredoxin |
|
IAGP |
|
HPO |
|
ORPHA:1507 |
NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
|
|
G |
PEX1 |
peroxisomal biogenesis factor 1 |
|
IAGP |
|
HPO |
|
ORPHA:44 |
NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
|
|
G |
PEX10 |
peroxisomal biogenesis factor 10 |
|
IAGP |
|
HPO |
|
ORPHA:44 |
NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797
|
|
G |
PEX11B |
peroxisomal biogenesis factor 11 beta |
|
IAGP |
|
HPO |
|
ORPHA:44 |
NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717
|
|
G |
PEX12 |
peroxisomal biogenesis factor 12 |
|
IAGP |
|
HPO |
|
ORPHA:44 |
NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863
|
|
G |
PEX13 |
peroxisomal biogenesis factor 13 |
|
IAGP |
|
HPO |
|
ORPHA:44 |
NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990
|
|
G |
PEX14 |
peroxisomal biogenesis factor 14 |
|
IAGP |
|
HPO |
|
ORPHA:44 |
NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758
|
|
G |
PEX16 |
peroxisomal biogenesis factor 16 |
|
IAGP |
|
HPO |
|
ORPHA:44 |
NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812
|
|
G |
PEX19 |
peroxisomal biogenesis factor 19 |
|
IAGP |
|
HPO |
|
ORPHA:44 |
NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348
|
|
G |
PEX2 |
peroxisomal biogenesis factor 2 |
|
IAGP |
|
HPO |
|
ORPHA:44 |
NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044
|
|
G |
PEX26 |
peroxisomal biogenesis factor 26 |
|
IAGP |
|
HPO |
|
ORPHA:44 |
NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396
|
|
G |
PEX3 |
peroxisomal biogenesis factor 3 |
|
IAGP |
|
HPO |
|
ORPHA:44 |
NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616
|
|
G |
PEX5 |
peroxisomal biogenesis factor 5 |
|
IAGP |
|
HPO |
|
ORPHA:44 |
NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
|
|
G |
PEX6 |
peroxisomal biogenesis factor 6 |
|
IAGP |
|
HPO |
|
ORPHA:44 |
NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
|
|
G |
POLR1A |
RNA polymerase I subunit A |
|
IAGP |
|
HPO |
|
ORPHA:1200 |
NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155
|
|
G |
PPP1CB |
protein phosphatase 1 catalytic subunit beta |
|
IAGP |
|
HPO |
|
ORPHA:2701 |
NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940
|
|
G |
RAD21 |
RAD21 cohesin complex component |
|
IAGP |
|
HPO |
|
ORPHA:502 |
NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
|
|
G |
RMRP |
RNA component of mitochondrial RNA processing endoribonuclease |
|
IAGP |
|
HPO |
|
ORPHA:175 |
NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
|
|
G |
RNU12 |
RNA, U12 small nuclear |
|
IAGP |
|
HPO |
|
ORPHA:85199 |
NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393
|
|
G |
ROR2 |
receptor tyrosine kinase like orphan receptor 2 |
|
IAGP |
|
HPO |
|
ORPHA:1507 |
NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
|
|
G |
SF3B4 |
splicing factor 3b subunit 4 |
|
IAGP |
|
HPO |
|
ORPHA:245 |
NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803
|
|
G |
SHOC2 |
SHOC2 leucine rich repeat scaffold protein |
|
IAGP |
|
HPO |
|
ORPHA:2701 |
NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307
|
|
G |
SIN3A |
SIN3 transcription regulator family member A |
|
IAGP |
|
HPO |
|
ORPHA:94065 |
NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
|
|
G |
TBX22 |
T-box transcription factor 22 |
|
IAGP |
|
HPO |
|
ORPHA:921 |
NCBI chr X:80,014,753...80,031,774
Ensembl chr X:80,014,753...80,031,774
|
|
G |
TCF4 |
transcription factor 4 |
|
IAGP |
|
HPO |
|
ORPHA:2896 |
NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787
|
|
G |
TRPS1 |
transcriptional repressor GATA binding 1 |
|
IAGP |
|
HPO |
|
ORPHA:502 |
NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
|
|
G |
TUBG1 |
tubulin gamma 1 |
|
IAGP |
|
HPO |
|
ORPHA:261183 |
NCBI chr17:42,609,683...42,615,238
Ensembl chr17:42,609,641...42,615,238
|
|
G |
TXNL4A |
thioredoxin like 4A |
|
IAGP |
|
HPO |
|
ORPHA:1200 |
NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949
|
|
G |
ZBTB20 |
zinc finger and BTB domain containing 20 |
|
IAGP |
|
HPO |
|
ORPHA:3042 |
NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292
|
|
G |
ZNHIT3 |
zinc finger HIT-type containing 3 |
|
IAGP |
|
HPO |
|
ORPHA:2836 |
NCBI chr17:36,486,681...36,499,312
Ensembl chr17:36,486,629...36,499,310
|
|
|
G |
PDE11A |
phosphodiesterase 11A |
|
IAGP |
|
HPO |
|
ORPHA:1359 |
NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339
|
|
G |
PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
|
IAGP |
|
HPO |
|
ORPHA:1359 |
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
|
|
|
G |
CHD7 |
chromodomain helicase DNA binding protein 7 |
|
IAGP |
|
HPO |
|
ORPHA:138 |
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
|
|
G |
SEMA3E |
semaphorin 3E |
|
IAGP |
|
HPO |
|
ORPHA:138 |
NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139
|
|
G |
SERPING1 |
serpin family G member 1 |
|
IAGP |
|
HPO |
|
ORPHA:100050 |
NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171
|
|
|
G |
ALG3 |
ALG3 alpha-1,3- mannosyltransferase |
|
IAGP |
|
HPO |
|
ORPHA:79321 |
NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548
|
|
G |
SERPING1 |
serpin family G member 1 |
|
IAGP |
|
HPO |
|
ORPHA:100050 |
NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171
|
|
|
G |
NXN |
nucleoredoxin |
|
IAGP |
|
HPO |
|
OMIM:618529 |
NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
|
|
G |
PI4KA |
phosphatidylinositol 4-kinase alpha |
|
IAGP |
|
HPO |
|
OMIM:616531 OMIM:619708 |
NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
|
|
G |
ROR2 |
receptor tyrosine kinase like orphan receptor 2 |
|
IAGP |
|
HPO |
|
OMIM:268310 |
NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
|
|
|
G |
BRCA1 |
BRCA1 DNA repair associated |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
|
|
G |
BRCA2 |
BRCA2 DNA repair associated |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
|
|
G |
BRIP1 |
BRCA1 interacting helicase 1 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
|
|
G |
ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
|
|
G |
FANCA |
FA complementation group A |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
|
|
G |
FANCB |
FA complementation group B |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255
|
|
G |
FANCC |
FA complementation group C |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
|
|
G |
FANCD2 |
FA complementation group D2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
|
|
G |
FANCE |
FA complementation group E |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
|
|
G |
FANCF |
FA complementation group F |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
|
|
G |
FANCG |
FA complementation group G |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
|
|
G |
FANCI |
FA complementation group I |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
|
|
G |
FANCL |
FA complementation group L |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
|
|
G |
FANCM |
FA complementation group M |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
|
|
G |
MAD2L2 |
mitotic arrest deficient 2 like 2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,658,918...11,691,811
|
|
G |
PALB2 |
partner and localizer of BRCA2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
|
|
G |
RAD51 |
RAD51 recombinase |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
|
|
G |
RAD51C |
RAD51 paralog C |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
|
|
G |
RFWD3 |
ring finger and WD repeat domain 3 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
|
|
G |
SLX4 |
SLX4 structure-specific endonuclease subunit |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
|
|
G |
UBE2T |
ubiquitin conjugating enzyme E2 T |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984
|
|
G |
XRCC2 |
X-ray repair cross complementing 2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
|
|
|
G |
ALG3 |
ALG3 alpha-1,3- mannosyltransferase |
|
IAGP |
|
HPO |
|
OMIM:601110 |
NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548
|
|
G |
ALG9 |
ALG9 alpha-1,2-mannosyltransferase |
|
IAGP |
|
HPO |
|
ORPHA:79328 |
NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
|
|
G |
AMER1 |
APC membrane recruitment protein 1 |
|
IAGP |
|
HPO |
|
OMIM:300373 ORPHA:2780 |
NCBI chr X:64,185,117...64,205,708
Ensembl chr X:64,185,117...64,205,708
|
|
G |
AMMECR1 |
AMMECR nuclear protein 1 |
|
IAGP |
|
HPO |
|
OMIM:300990 |
NCBI chr X:110,194,186...110,440,233
Ensembl chr X:110,194,186...110,440,318
|
|
G |
ASPH |
aspartate beta-hydroxylase |
|
IAGP |
|
HPO |
|
OMIM:601552 |
NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640
|
|
G |
ATP6V1B2 |
ATPase H+ transporting V1 subunit B2 |
|
IAGP |
|
HPO |
|
ORPHA:3473 |
NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819
|
|
G |
B3GALNT2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452
|
|
G |
B4GALT7 |
beta-1,4-galactosyltransferase 7 |
|
IAGP |
|
HPO |
|
OMIM:130070 |
NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330
|
|
G |
B4GAT1 |
beta-1,4-glucuronyltransferase 1 |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629
|
|
G |
B9D2 |
B9 domain containing 2 |
|
IAGP |
|
HPO |
|
OMIM:614175 |
NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165
|
|
G |
BCOR |
BCL6 corepressor |
|
IAGP |
|
HPO |
|
OMIM:300166 |
NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329
|
|
G |
BGN |
biglycan |
|
IAGP |
|
HPO |
|
OMIM:300989 |
NCBI chr X:153,494,980...153,509,546
Ensembl chr X:153,494,980...153,509,546
|
|
G |
BIN1 |
bridging integrator 1 |
|
IAGP |
|
HPO |
|
ORPHA:169186 |
NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288
|
|
G |
BMP4 |
bone morphogenetic protein 4 |
|
IAGP |
|
HPO |
|
OMIM:607932 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
|
|
G |
CDC45 |
cell division cycle 45 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612
|
|
G |
CDC6 |
cell division cycle 6 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657
|
|
G |
CDH11 |
cadherin 11 |
|
IAGP |
|
HPO |
|
OMIM:211380 ORPHA:1299 |
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
|
|
G |
CDON |
cell adhesion associated, oncogene regulated |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
|
|
G |
CDT1 |
chromatin licensing and DNA replication factor 1 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258
|
|
G |
CHD4 |
chromodomain helicase DNA binding protein 4 |
|
IAGP |
|
HPO |
|
OMIM:617159 |
NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524
|
|
G |
COL11A1 |
collagen type XI alpha 1 chain |
|
IAGP |
|
HPO |
|
OMIM:154780 OMIM:604841 |
NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
|
|
G |
COL11A2 |
collagen type XI alpha 2 chain |
|
IAGP |
|
HPO |
|
ORPHA:1427 |
NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499
|
|
G |
COL2A1 |
collagen type II alpha 1 chain |
|
IAGP |
|
HPO |
|
OMIM:108300 OMIM:183900 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
|
|
G |
COL4A1 |
collagen type IV alpha 1 chain |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157
|
|
G |
CRIPTO |
cripto, EGF-CFC family member |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457
|
|
G |
CRPPA |
CDP-L-ribitol pyrophosphorylase A |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
|
|
G |
CUL3 |
cullin 3 |
|
IAGP |
|
HPO |
|
OMIM:619239 |
NCBI chr 2:224,470,150...224,585,363
Ensembl chr 2:224,470,150...224,585,397
|
|
G |
DAG1 |
dystroglycan 1 |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618
|
|
G |
DDX3X |
DEAD-box helicase 3 X-linked |
|
IAGP |
|
HPO |
|
OMIM:300958 |
NCBI chr X:41,333,308...41,364,472
Ensembl chr X:41,333,348...41,364,472
|
|
G |
DDX59 |
DEAD-box helicase 59 |
|
IAGP |
|
HPO |
|
OMIM:174300 ORPHA:2919 |
NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907
|
|
G |
DHCR24 |
24-dehydrocholesterol reductase |
|
IAGP |
|
HPO |
|
ORPHA:35107 |
NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
|
|
G |
DHCR7 |
7-dehydrocholesterol reductase |
|
IAGP |
|
HPO |
|
OMIM:270400 |
NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
|
|
G |
DISP1 |
dispatched RND transporter family member 1 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995
|
|
G |
DLG3 |
discs large MAGUK scaffold protein 3 |
|
IAGP |
|
HPO |
|
OMIM:300850 |
NCBI chr X:70,444,835...70,505,490
Ensembl chr X:70,444,835...70,505,490
|
|
G |
DLK1 |
delta like non-canonical Notch ligand 1 |
|
IAGP |
|
HPO |
|
ORPHA:96184 |
NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
|
|
G |
DLL1 |
delta like canonical Notch ligand 1 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565
|
|
G |
EDN1 |
endothelin 1 |
|
IAGP |
|
HPO |
|
OMIM:615706 ORPHA:137888 |
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
|
|
G |
EIF4A3 |
eukaryotic translation initiation factor 4A3 |
|
IAGP |
|
HPO |
|
OMIM:268305 |
NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151
|
|
G |
EYA1 |
EYA transcriptional coactivator and phosphatase 1 |
|
IAGP |
|
HPO |
|
OMIM:113650 |
NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025
|
|
G |
FBXO11 |
F-box protein 11 |
|
IAGP |
|
HPO |
|
OMIM:618089 |
NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498
|
|
G |
FGF10 |
fibroblast growth factor 10 |
|
IAGP |
|
HPO |
|
ORPHA:2363 |
NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706
|
|
G |
FGF8 |
fibroblast growth factor 8 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
|
|
G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
|
|
G |
FGFR2 |
fibroblast growth factor receptor 2 |
|
IAGP |
|
HPO |
|
OMIM:101200 OMIM:123790 ORPHA:2363 ORPHA:87 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
|
|
G |
FGFR3 |
fibroblast growth factor receptor 3 |
|
IAGP |
|
HPO |
|
ORPHA:2363 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
|
|
G |
FKRP |
fukutin related protein |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
|
|
G |
FKTN |
fukutin |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820
|
|
G |
FLNA |
filamin A |
|
IAGP |
|
HPO |
|
ORPHA:1826 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
|
|
G |
FOXH1 |
forkhead box H1 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849
|
|
G |
FOXI3 |
forkhead box I3 |
|
IAGP |
|
HPO |
|
OMIM:620444 |
NCBI chr 2:88,446,787...88,452,693
Ensembl chr 2:88,446,787...88,452,693
|
|
G |
FTO |
FTO alpha-ketoglutarate dependent dioxygenase |
|
IAGP |
|
HPO |
|
OMIM:612938 |
NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512
|
|
G |
GAS1 |
growth arrest specific 1 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506
|
|
G |
GJA5 |
gap junction protein alpha 5 |
|
IAGP |
|
HPO |
|
OMIM:612474 |
NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
|
|
G |
GJA8 |
gap junction protein alpha 8 |
|
IAGP |
|
HPO |
|
OMIM:612474 |
NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269
|
|
G |
GLI2 |
GLI family zinc finger 2 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
|
|
G |
GLI3 |
GLI family zinc finger 3 |
|
IAGP |
|
HPO |
|
ORPHA:672 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
|
|
G |
GMNN |
geminin DNA replication inhibitor |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
|
|
G |
GNAI3 |
G protein subunit alpha i3 |
|
IAGP |
|
HPO |
|
ORPHA:137888 |
NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,615...109,600,195
|
|
G |
GRHL3 |
grainyhead like transcription factor 3 |
|
IAGP |
|
HPO |
|
ORPHA:99771 |
NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482
|
|
G |
HAAO |
3-hydroxyanthranilate 3,4-dioxygenase |
|
IAGP |
|
HPO |
|
OMIM:617660 |
NCBI chr 2:42,767,089...42,792,583
Ensembl chr 2:42,767,089...42,792,593
|
|
G |
HNRNPK |
heterogeneous nuclear ribonucleoprotein K |
|
IAGP |
|
HPO |
|
OMIM:616580 ORPHA:352665 ORPHA:453504 |
NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631
|
|
G |
HYAL1 |
hyaluronidase 1 |
|
IAGP |
|
HPO |
|
OMIM:601492 |
NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381
|
|
G |
HYLS1 |
HYLS1 centriolar and ciliogenesis associated |
|
IAGP |
|
HPO |
|
ORPHA:2189 |
NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
|
|
G |
IFT140 |
intraflagellar transport 140 |
|
IAGP |
|
HPO |
|
OMIM:266920 |
NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
|
|
G |
IGBP1 |
immunoglobulin binding protein 1 |
|
IAGP |
|
HPO |
|
OMIM:300472 |
NCBI chr X:70,133,447...70,166,324
Ensembl chr X:70,133,447...70,166,324
|
|
G |
IPO8 |
importin 8 |
|
IAGP |
|
HPO |
|
OMIM:619472 ORPHA:60030 |
NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
|
|
G |
IRF6 |
interferon regulatory factor 6 |
|
IAGP |
|
HPO |
|
OMIM:119300 OMIM:119500 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
|
|
G |
KAT6B |
lysine acetyltransferase 6B |
|
IAGP |
|
HPO |
|
ORPHA:3047 |
NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
|
|
G |
KCNH1 |
potassium voltage-gated channel subfamily H member 1 |
|
IAGP |
|
HPO |
|
ORPHA:3473 |
NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
|
|
G |
KCNK9 |
potassium two pore domain channel subfamily K member 9 |
|
IAGP |
|
HPO |
|
OMIM:612292 |
NCBI chr 8:139,600,838...139,703,123
Ensembl chr 8:139,600,838...139,704,109
|
|
G |
KCNMA1 |
potassium calcium-activated channel subfamily M alpha 1 |
|
IAGP |
|
HPO |
|
ORPHA:3473 |
NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369
|
|
G |
KCNN3 |
potassium calcium-activated channel subfamily N member 3 |
|
IAGP |
|
HPO |
|
OMIM:618658 ORPHA:3473 |
NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281
|
|
G |
KCTD1 |
potassium channel tetramerization domain containing 1 |
|
IAGP |
|
HPO |
|
OMIM:181270 |
NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401
|
|
G |
KDM6B |
lysine demethylase 6B |
|
IAGP |
|
HPO |
|
OMIM:618505 |
NCBI chr17:7,834,217...7,854,796
Ensembl chr17:7,834,217...7,854,796
|
|
G |
KIF14 |
kinesin family member 14 |
|
IAGP |
|
HPO |
|
OMIM:616258 |
NCBI chr 1:200,551,497...200,620,751
Ensembl chr 1:200,551,497...200,620,751
|
|
G |
KIF7 |
kinesin family member 7 |
|
IAGP |
|
HPO |
|
OMIM:200990 ORPHA:2189 |
NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
|
|
G |
KMT2C |
lysine methyltransferase 2C |
|
IAGP |
|
HPO |
|
OMIM:617768 |
NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644
|
|
G |
KMT2D |
lysine methyltransferase 2D |
|
IAGP |
|
HPO |
|
OMIM:620186 |
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
|
|
G |
LARGE1 |
LARGE xylosyl- and glucuronyltransferase 1 |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
|
|
G |
MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
|
IAGP |
|
HPO |
|
OMIM:617137 ORPHA:1826 |
NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
|
|
G |
MEG3 |
maternally expressed 3 |
|
IAGP |
|
HPO |
|
ORPHA:96184 |
NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
|
|
G |
METTL23 |
methyltransferase 23, arginine |
|
IAGP |
|
HPO |
|
OMIM:615942 |
NCBI chr17:76,726,041...76,733,881
Ensembl chr17:76,726,830...76,733,936
|
|
G |
MYL11 |
myosin light chain 11 |
|
IAGP |
|
HPO |
|
OMIM:619110 |
NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991
|
|
G |
NODAL |
nodal growth differentiation factor |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
|
|
G |
NSD1 |
nuclear receptor binding SET domain protein 1 |
|
IAGP |
ClinVar Annotator: match by term: Uvula, bifid |
ClinVar |
PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:18414213 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
|
|
G |
ORC1 |
origin recognition complex subunit 1 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423
|
|
G |
ORC4 |
origin recognition complex subunit 4 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604
|
|
G |
ORC6 |
origin recognition complex subunit 6 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394
|
|
G |
PGAP1 |
post-GPI attachment to proteins inositol deacylase 1 |
|
IAGP |
|
HPO |
|
OMIM:615802 |
NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796
|
|
G |
PGAP2 |
post-GPI attachment to proteins 2 |
|
IAGP |
|
HPO |
|
ORPHA:247262 |
NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371
|
|
G |
PGAP3 |
post-GPI attachment to proteins phospholipase 3 |
|
IAGP |
|
HPO |
|
ORPHA:247262 |
NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797
|
|
G |
PGM1 |
phosphoglucomutase 1 |
|
IAGP |
|
HPO |
|
OMIM:614921 |
NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245
|
|
G |
PIEZO2 |
piezo type mechanosensitive ion channel component 2 |
|
IAGP |
|
HPO |
|
OMIM:114300 ORPHA:2461 |
NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
|
|
G |
PIGL |
phosphatidylinositol glycan anchor biosynthesis class L |
|
IAGP |
|
HPO |
|
ORPHA:247262 |
NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
|
|
G |
PIGO |
phosphatidylinositol glycan anchor biosynthesis class O |
|
IAGP |
|
HPO |
|
ORPHA:247262 |
NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,087,237...35,096,619
|
|
G |
PIGV |
phosphatidylinositol glycan anchor biosynthesis class V |
|
IAGP |
|
HPO |
|
ORPHA:247262 |
NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659
|
|
G |
PIGW |
phosphatidylinositol glycan anchor biosynthesis class W |
|
IAGP |
|
HPO |
|
ORPHA:247262 |
NCBI chr17:36,534,987...36,539,303
Ensembl chr17:36,534,987...36,539,310
|
|
G |
PIGY |
phosphatidylinositol glycan anchor biosynthesis class Y |
|
IAGP |
|
HPO |
|
ORPHA:247262 |
NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776
|
|
G |
PLCB4 |
phospholipase C beta 4 |
|
IAGP |
|
HPO |
|
ORPHA:137888 |
NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593
|
|
G |
PLCH1 |
phospholipase C eta 1 |
|
IAGP |
|
HPO |
|
ORPHA:93925 |
NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071
|
|
G |
POGZ |
pogo transposable element derived with ZNF domain |
|
IAGP |
|
HPO |
|
OMIM:616364 |
NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494
|
|
G |
POLA1 |
DNA polymerase alpha 1, catalytic subunit |
|
IAGP |
|
HPO |
|
OMIM:301030 |
NCBI chr X:24,693,918...24,996,986
Ensembl chr X:24,693,873...24,996,986
|
|
G |
POMGNT1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305
|
|
G |
POMGNT2 |
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085
|
|
G |
POMK |
protein O-mannose kinase |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180
|
|
G |
POMT1 |
protein O-mannosyltransferase 1 |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
|
|
G |
POMT2 |
protein O-mannosyltransferase 2 |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
|
|
G |
PPP1CB |
protein phosphatase 1 catalytic subunit beta |
|
IAGP |
|
HPO |
|
OMIM:617506 |
NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940
|
|
G |
PTCH1 |
patched 1 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
|
|
G |
PTDSS1 |
phosphatidylserine synthase 1 |
|
IAGP |
|
HPO |
|
ORPHA:2658 |
NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
|
|
G |
RECQL4 |
RecQ like helicase 4 |
|
IAGP |
|
HPO |
|
OMIM:218600 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
|
|
G |
RFX7 |
regulatory factor X7 |
|
IAGP |
|
HPO |
|
OMIM:620330 |
NCBI chr15:56,087,280...56,245,082
Ensembl chr15:56,087,280...56,245,082
|
|
G |
RNU4ATAC |
RNA, U4atac small nuclear |
|
IAGP |
|
HPO |
|
ORPHA:2636 |
NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
|
|
G |
RPL5 |
ribosomal protein L5 |
|
IAGP |
|
HPO |
|
OMIM:612561 |
NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924
|
|
G |
RPS23 |
ribosomal protein S23 |
|
IAGP |
|
HPO |
|
OMIM:617412 |
NCBI chr 5:82,273,320...82,278,354
Ensembl chr 5:82,273,320...82,278,396
|
|
G |
RPS28 |
ribosomal protein S28 |
|
IAGP |
|
HPO |
|
OMIM:606164 |
NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340
|
|
G |
RTL1 |
retrotransposon Gag like 1 |
|
IAGP |
|
HPO |
|
ORPHA:96184 |
NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
|
|
G |
RXYLT1 |
ribitol xylosyltransferase 1 |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr12:63,779,909...63,809,562
Ensembl chr12:63,779,833...63,809,792
|
|
G |
RYR1 |
ryanodine receptor 1 |
|
IAGP |
|
HPO |
|
ORPHA:169186 |
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
|
|
G |
SATB2 |
SATB homeobox 2 |
|
IAGP |
|
HPO |
|
ORPHA:576283 |
NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
|
|
G |
SEC23A |
SEC23 homolog A, COPII coat complex component |
|
IAGP |
|
HPO |
|
OMIM:607812 |
NCBI chr14:39,031,919...39,103,235
Ensembl chr14:39,031,919...39,109,646
|
|
G |
SELENOI |
selenoprotein I |
|
IAGP |
|
HPO |
|
OMIM:618768 ORPHA:506353 |
NCBI chr 2:26,346,143...26,395,885
Ensembl chr 2:26,308,547...26,395,885
|
|
G |
SEPTIN9 |
septin 9 |
|
IAGP |
|
HPO |
|
ORPHA:2901 |
NCBI chr17:77,281,499...77,500,596
Ensembl chr17:77,280,569...77,500,596
|
|
G |
SETD5 |
SET domain containing 5 |
|
IAGP |
|
HPO |
|
ORPHA:404440 |
NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240
|
|
G |
SHH |
sonic hedgehog signaling molecule |
|
IAGP |
|
HPO |
|
OMIM:142945 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
|
|
G |
SHMT2 |
serine hydroxymethyltransferase 2 |
|
IAGP |
|
HPO |
|
OMIM:619121 |
NCBI chr12:57,229,711...57,234,935
Ensembl chr12:57,229,573...57,234,935
|
|
G |
SIAH1 |
siah E3 ubiquitin protein ligase 1 |
|
IAGP |
|
HPO |
|
OMIM:619314 |
NCBI chr16:48,360,531...48,387,246
Ensembl chr16:48,356,364...48,448,402
|
|
G |
SIX1 |
SIX homeobox 1 |
|
IAGP |
|
HPO |
|
OMIM:113650 |
NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259
|
|
G |
SIX3 |
SIX homeobox 3 |
|
IAGP |
|
HPO |
|
OMIM:157170 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
|
|
G |
SKIC3 |
SKI3 subunit of superkiller complex |
|
IAGP |
|
HPO |
|
OMIM:222470 |
NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050
|
|
G |
SLC2A10 |
solute carrier family 2 member 10 |
|
IAGP |
|
HPO |
|
OMIM:208050 |
NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347
|
|
G |
SLC39A13 |
solute carrier family 39 member 13 |
|
IAGP |
|
HPO |
|
OMIM:612350 |
NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496
|
|
G |
SMAD2 |
SMAD family member 2 |
|
IAGP |
|
HPO |
|
ORPHA:60030 |
NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
|
|
G |
SMAD3 |
SMAD family member 3 |
|
IAGP |
|
HPO |
|
OMIM:613795 ORPHA:284984 ORPHA:60030 |
NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
|
|
G |
SMAD4 |
SMAD family member 4 |
|
IAGP |
|
HPO |
|
ORPHA:2588 |
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
|
|
G |
SMARCD1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 |
|
IAGP |
|
HPO |
|
OMIM:618779 |
NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707
|
|
G |
SMC1A |
structural maintenance of chromosomes 1A |
|
IAGP |
|
HPO |
|
ORPHA:220386 |
NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728
|
|
G |
SMCHD1 |
structural maintenance of chromosomes flexible hinge domain containing 1 |
|
IAGP |
|
HPO |
|
ORPHA:2250 |
NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017
|
|
G |
SMPD4 |
sphingomyelin phosphodiesterase 4 |
|
IAGP |
|
HPO |
|
OMIM:618622 |
NCBI chr 2:130,151,392...130,181,757
Ensembl chr 2:130,151,392...130,182,750
|
|
G |
SMS |
spermine synthase |
|
IAGP |
|
HPO |
|
OMIM:309583 |
NCBI chr X:21,940,709...21,994,837
Ensembl chr X:21,940,709...21,994,837
|
|
G |
SNRPN |
small nuclear ribonucleoprotein polypeptide N |
|
IAGP |
|
HPO |
|
ORPHA:177907 |
NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
|
|
G |
SON |
SON DNA and RNA binding protein |
|
IAGP |
|
HPO |
|
OMIM:617140 ORPHA:500150 |
NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
|
|
G |
SPEG |
striated muscle enriched protein kinase |
|
IAGP |
|
HPO |
|
OMIM:615959 ORPHA:169186 |
NCBI chr 2:219,434,843...219,493,629
Ensembl chr 2:219,434,843...219,493,629
|
|
G |
STAC3 |
SH3 and cysteine rich domain 3 |
|
IAGP |
|
HPO |
|
ORPHA:168572 |
NCBI chr12:57,243,458...57,251,187
Ensembl chr12:57,243,453...57,251,188
|
|
G |
STAG2 |
STAG2 cohesin complex component |
|
IAGP |
|
HPO |
|
OMIM:301022 ORPHA:220386 ORPHA:93925 |
NCBI chr X:123,960,560...124,102,656
Ensembl chr X:123,960,212...124,422,664
|
|
G |
STIL |
STIL centriolar assembly protein |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892
|
|
G |
SUPT16H |
SPT16 homolog, facilitates chromatin remodeling subunit |
|
IAGP |
|
HPO |
|
OMIM:619480 |
NCBI chr14:21,351,476...21,384,019
Ensembl chr14:21,351,476...21,384,019
|
|
G |
TBCE |
tubulin folding cofactor E |
|
IAGP |
|
HPO |
|
OMIM:241410 |
NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
|
|
G |
TBX1 |
T-box transcription factor 1 |
|
IAGP |
|
HPO |
|
OMIM:188400 |
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
|
|
G |
TBX22 |
T-box transcription factor 22 |
|
IAGP |
|
HPO |
|
OMIM:303400 |
NCBI chr X:80,014,753...80,031,774
Ensembl chr X:80,014,753...80,031,774
|
|
G |
TCTN3 |
tectonic family member 3 |
|
IAGP |
|
HPO |
|
ORPHA:2753 |
NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
|
|
G |
TGDS |
TDP-glucose 4,6-dehydratase |
|
IAGP |
|
HPO |
|
OMIM:616145 |
NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242
|
|
G |
TGFB2 |
transforming growth factor beta 2 |
|
IAGP |
|
HPO |
|
OMIM:614816 ORPHA:60030 |
NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
|
|
G |
TGFB3 |
transforming growth factor beta 3 |
|
IAGP |
|
HPO |
|
OMIM:615582 ORPHA:60030 |
NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
|
|
G |
TGFBR1 |
transforming growth factor beta receptor 1 |
|
IAGP |
|
HPO |
|
OMIM:609192 ORPHA:60030 |
NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192
|
|
G |
TGFBR2 |
transforming growth factor beta receptor 2 |
|
IAGP |
|
HPO |
|
OMIM:610168 ORPHA:60030 |
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142
|
|
G |
TGIF1 |
TGFB induced factor homeobox 1 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
|
|
G |
TMEM231 |
transmembrane protein 231 |
|
IAGP |
|
HPO |
|
ORPHA:2752 |
NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
|
|
G |
TP63 |
tumor protein p63 |
|
IAGP |
|
HPO |
|
OMIM:129400 OMIM:603543 ORPHA:69085 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
|
|
G |
TTN |
titin |
|
IAGP |
|
HPO |
|
ORPHA:169186 |
NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
|
|
G |
TXNL4A |
thioredoxin like 4A |
|
IAGP |
|
HPO |
|
OMIM:608572 |
NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949
|
|
G |
UBB |
ubiquitin B |
|
IAGP |
|
HPO |
|
ORPHA:99771 |
NCBI chr17:16,380,779...16,382,745
Ensembl chr17:16,380,798...16,382,745
|
|
G |
USP9X |
ubiquitin specific peptidase 9 X-linked |
|
IAGP |
|
HPO |
|
OMIM:300968 |
NCBI chr X:41,085,445...41,236,579
Ensembl chr X:41,085,445...41,236,579
|
|
G |
XYLT1 |
xylosyltransferase 1 |
|
IAGP |
|
HPO |
|
OMIM:615777 |
NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
|
|
G |
ZEB2 |
zinc finger E-box binding homeobox 2 |
|
IAGP |
|
HPO |
|
ORPHA:261537 ORPHA:261552 |
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
|
|
G |
ZIC2 |
Zic family member 2 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
|
|
|
G |
ARHGAP29 |
Rho GTPase activating protein 29 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068
|
|
G |
ARHGEF38 |
Rho guanine nucleotide exchange factor 38 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093
|
|
G |
ASXL1 |
ASXL transcriptional regulator 1 |
|
IAGP |
|
HPO |
|
OMIM:605039 |
NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
|
|
G |
BMP4 |
bone morphogenetic protein 4 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
|
|
G |
CDH1 |
cadherin 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 ORPHA:1997 |
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
|
|
G |
CHUK |
component of inhibitor of nuclear factor kappa B kinase complex |
|
IAGP |
|
HPO |
|
OMIM:619339 |
NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596
|
|
G |
COBLL1 |
cordon-bleu WH2 repeat protein like 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679
|
|
G |
CTNND1 |
catenin delta 1 |
|
IAGP |
|
HPO |
|
ORPHA:1997 |
NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546
|
|
G |
DLG1 |
discs large MAGUK scaffold protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
|
|
G |
DLX4 |
distal-less homeobox 4 |
|
IAGP |
|
HPO |
|
OMIM:616788 ORPHA:199306 |
NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959
|
|
G |
GLI2 |
GLI family zinc finger 2 |
|
IAGP |
|
HPO |
|
OMIM:610829 |
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
|
|
G |
IRF6 |
interferon regulatory factor 6 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
|
|
G |
MED12 |
mediator complex subunit 12 |
|
IAGP |
|
HPO |
|
OMIM:301068 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
|
|
G |
MSX1 |
msh homeobox 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
|
|
G |
MYCN |
MYCN proto-oncogene, bHLH transcription factor |
|
IAGP |
ClinVar Annotator: match by term: Bilateral cleft palate |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
|
|
G |
NECTIN1 |
nectin cell adhesion molecule 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 ORPHA:3253 |
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
|
|
G |
PDGFRA |
platelet derived growth factor receptor alpha |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
|
|
G |
PTCH1 |
patched 1 |
|
IAGP |
|
HPO |
|
OMIM:610828 |
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
|
|
G |
RIC1 |
RIC1 homolog, RAB6A GEF complex partner 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557
|
|
G |
RPL26 |
ribosomal protein L26 |
|
IAGP |
|
HPO |
|
OMIM:614900 |
NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213
|
|
G |
SIX3 |
SIX homeobox 3 |
|
IAGP |
|
HPO |
|
OMIM:157170 |
NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
|
|
G |
SLC26A2 |
solute carrier family 26 member 2 |
|
IAGP |
|
HPO |
|
ORPHA:56304 |
NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
|
|
G |
SOX3 |
SRY-box transcription factor 3 |
|
IAGP |
ClinVar Annotator: match by term: Right and left cleft palate |
ClinVar |
PMID:23757202 PMID:25741868 PMID:28492532 |
|
NCBI chr X:140,502,985...140,505,069
Ensembl chr X:140,502,985...140,505,069
|
|
G |
SPOP |
speckle type BTB/POZ protein |
|
IAGP |
|
HPO |
|
OMIM:618829 |
NCBI chr17:49,598,884...49,678,163
Ensembl chr17:49,598,884...49,678,163
|
|
G |
TMCO1 |
transmembrane and coiled-coil domains 1 |
|
IAGP |
ClinVar Annotator: match by term: Bilateral cleft palate |
ClinVar |
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 |
|
NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
|
|
G |
TP63 |
tumor protein p63 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
|
|
G |
YAP1 |
Yes1 associated transcriptional regulator |
|
IAGP |
|
HPO |
|
ORPHA:1473 |
NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424
|
|
|
G |
IPO8 |
importin 8 |
|
IAGP |
|
HPO |
|
OMIM:619472 |
NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
|
|
G |
TGFB2 |
transforming growth factor beta 2 |
|
IAGP |
|
HPO |
|
OMIM:614816 |
NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
|
|
|
G |
AMMECR1 |
AMMECR nuclear protein 1 |
|
IAGP |
|
HPO |
|
OMIM:300990 |
NCBI chr X:110,194,186...110,440,233
Ensembl chr X:110,194,186...110,440,318
|
|
G |
TP63 |
tumor protein p63 |
|
IAGP |
|
HPO |
|
ORPHA:69085 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
|
|
G |
ZEB2 |
zinc finger E-box binding homeobox 2 |
|
IAGP |
|
HPO |
|
ORPHA:261537 ORPHA:261552 |
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
|
|
|
G |
ACBD5 |
acyl-CoA binding domain containing 5 |
|
IAGP |
|
HPO |
|
OMIM:618863 |
NCBI chr10:27,182,838...27,242,111
Ensembl chr10:27,168,135...27,243,046
|
|
G |
ACTB |
actin beta |
|
IAGP |
|
HPO |
|
OMIM:607371 |
NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
|
|
G |
ACTG2 |
actin gamma 2, smooth muscle |
|
IAGP |
|
HPO |
|
ORPHA:2604 |
NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865
|
|
G |
AHI1 |
Abelson helper integration site 1 |
|
IAGP |
|
HPO |
|
ORPHA:220493 |
NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434
|
|
G |
ALX1 |
ALX homeobox 1 |
|
IAGP |
|
HPO |
|
OMIM:613456 ORPHA:306542 |
NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784
|
|
G |
ALX3 |
ALX homeobox 3 |
|
IAGP |
|
HPO |
|
ORPHA:391474 |
NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672
|
|
G |
ALX4 |
ALX homeobox 4 |
|
IAGP |
|
HPO |
|
ORPHA:60015 |
NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
|
|
G |
AMER1 |
APC membrane recruitment protein 1 |
|
IAGP |
ClinVar Annotator: match by term: Cleft palate |
ClinVar HPO |
PMID:25741868 |
OMIM:300373 ORPHA:2780 |
NCBI chr X:64,185,117...64,205,708
Ensembl chr X:64,185,117...64,205,708
|
|
G |
ANKRD11 |
ankyrin repeat domain containing 11 |
|
IAGP |
|
HPO |
|
ORPHA:2332 |
NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,630...89,490,561
|
|
G |
ANKRD17 |
ankyrin repeat domain 17 |
|
IAGP |
|
HPO |
|
OMIM:619504 |
NCBI chr 4:73,073,376...73,258,798
Ensembl chr 4:73,073,376...73,258,798
|
|
G |
ANOS1 |
anosmin 1 |
|
IAGP |
|
HPO |
|
ORPHA:478 |
NCBI chr X:8,528,874...8,732,137
Ensembl chr X:8,528,874...8,732,137
|
|
G |
AR |
androgen receptor |
|
IAGP |
|
HPO |
|
ORPHA:95706 |
NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619
|
|
G |
ARCN1 |
archain 1 |
|
IAGP |
|
HPO |
|
OMIM:617164 |
NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033
|
|
G |
ARHGAP29 |
Rho GTPase activating protein 29 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068
|
|
G |
ARHGAP31 |
Rho GTPase activating protein 31 |
|
IAGP |
|
HPO |
|
OMIM:100300 |
NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714
|
|
G |
ARHGEF38 |
Rho guanine nucleotide exchange factor 38 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093
|
|
G |
ARID1A |
AT-rich interaction domain 1A |
|
IAGP |
|
HPO |
|
OMIM:614607 |
NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
|
|
G |
ARID1B |
AT-rich interaction domain 1B |
|
IAGP |
|
HPO |
|
OMIM:135900 ORPHA:251056 |
NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
|
|
G |
ARID2 |
AT-rich interaction domain 2 |
|
IAGP |
|
HPO |
|
OMIM:617808 |
NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
|
|
G |
ARNT2 |
aryl hydrocarbon receptor nuclear translocator 2 |
|
IAGP |
|
HPO |
|
ORPHA:3157 |
NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933
|
|
G |
ARVCF |
ARVCF delta catenin family member |
|
IAGP |
|
HPO |
|
ORPHA:567 |
NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
|
|
G |
ARX |
aristaless related homeobox |
|
IAGP |
|
HPO |
|
ORPHA:1934 |
NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420
|
|
G |
ASXL1 |
ASXL transcriptional regulator 1 |
|
IAGP |
|
HPO |
|
ORPHA:97297 |
NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
|
|
G |
ATN1 |
atrophin 1 |
|
IAGP |
|
HPO |
|
OMIM:618494 |
NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321
|
|
G |
ATP6V1B2 |
ATPase H+ transporting V1 subunit B2 |
|
IAGP |
|
HPO |
|
ORPHA:3473 ORPHA:79500 |
NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819
|
|
G |
ATR |
ATR serine/threonine kinase |
|
IAGP |
|
HPO |
|
OMIM:210600 |
NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733
|
|
G |
B3GALNT2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452
|
|
G |
B3GALT6 |
beta-1,3-galactosyltransferase 6 |
|
IAGP |
|
HPO |
|
OMIM:271640 OMIM:615349 |
NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
|
|
G |
B3GAT3 |
beta-1,3-glucuronyltransferase 3 |
|
IAGP |
|
HPO |
|
OMIM:245600 |
NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154
|
|
G |
B3GLCT |
beta 3-glucosyltransferase |
|
IAGP |
|
HPO |
|
OMIM:261540 ORPHA:709 |
NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
|
|
G |
B4GALT7 |
beta-1,4-galactosyltransferase 7 |
|
IAGP |
|
HPO |
|
OMIM:130070 |
NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330
|
|
G |
B4GAT1 |
beta-1,4-glucuronyltransferase 1 |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629
|
|
G |
B9D1 |
B9 domain containing 1 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
|
|
G |
B9D2 |
B9 domain containing 2 |
|
IAGP |
|
HPO |
|
OMIM:614175 ORPHA:564 |
NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165
|
|
G |
BCOR |
BCL6 corepressor |
|
IAGP |
|
HPO |
|
ORPHA:2712 |
NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329
|
|
G |
BCR |
BCR activator of RhoGEF and GTPase |
|
IAGP |
|
HPO |
|
ORPHA:261330 |
NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
|
|
G |
BMP4 |
bone morphogenetic protein 4 |
|
IAGP |
|
HPO |
|
OMIM:600625 OMIM:607932 ORPHA:199306 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
|
|
G |
BMPER |
BMP binding endothelial regulator |
|
IAGP |
|
HPO |
|
OMIM:608022 ORPHA:66637 |
NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427
|
|
G |
BPNT2 |
3'(2'), 5'-bisphosphate nucleotidase 2 |
|
IAGP |
|
HPO |
|
OMIM:614078 |
NCBI chr 8:56,957,931...56,993,867
Ensembl chr 8:56,957,931...56,993,867
|
|
G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
|
IAGP |
|
HPO |
|
OMIM:163950 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
|
|
G |
BRCA1 |
BRCA1 DNA repair associated |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
|
|
G |
BRCA2 |
BRCA2 DNA repair associated |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
|
|
G |
BRD4 |
bromodomain containing 4 |
|
IAGP |
|
HPO |
|
ORPHA:199 |
NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
|
|
G |
BRIP1 |
BRCA1 interacting helicase 1 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
|
|
G |
BUB1 |
BUB1 mitotic checkpoint serine/threonine kinase |
|
IAGP |
|
HPO |
|
ORPHA:1052 |
NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063
|
|
G |
BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
|
IAGP |
|
HPO |
|
OMIM:257300 ORPHA:1052 |
NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123
|
|
G |
BUB3 |
BUB3 mitotic checkpoint protein |
|
IAGP |
|
HPO |
|
ORPHA:1052 |
NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467
|
|
G |
C2CD3 |
C2 domain containing 3 centriole elongation regulator |
|
IAGP |
|
HPO |
|
OMIM:615948 ORPHA:434179 |
NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210
|
|
G |
CASK |
calcium/calmodulin dependent serine protein kinase |
|
IAGP |
|
HPO |
|
ORPHA:1934 |
NCBI chr X:41,514,934...41,923,554
Ensembl chr X:41,514,934...41,923,554
|
|
G |
CC2D2A |
coiled-coil and C2 domain containing 2A |
|
IAGP |
|
HPO |
|
OMIM:612284 ORPHA:564 |
NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
|
|
G |
CCDC141 |
coiled-coil domain containing 141 |
|
IAGP |
|
HPO |
|
ORPHA:478 |
NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137
|
|
G |
CCDC22 |
coiled-coil domain containing 22 |
|
IAGP |
|
HPO |
|
ORPHA:7 |
NCBI chr X:49,235,470...49,250,520
Ensembl chr X:49,235,470...49,250,520
|
|
G |
CCDC32 |
coiled-coil domain containing 32 |
|
IAGP |
|
HPO |
|
OMIM:619123 |
NCBI chr15:40,520,993...40,565,042
Ensembl chr15:40,528,683...40,565,054
|
|
G |
CD96 |
CD96 molecule |
|
IAGP |
|
HPO |
|
ORPHA:1308 |
NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,750
|
|
G |
CDC45 |
cell division cycle 45 |
|
IAGP |
|
HPO |
|
OMIM:617063 ORPHA:2554 |
NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612
|
|
G |
CDC6 |
cell division cycle 6 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657
|
|
G |
CDH1 |
cadherin 1 |
|
IAGP |
|
HPO |
|
OMIM:137215 ORPHA:199306 |
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
|
|
G |
CDH11 |
cadherin 11 |
|
IAGP |
|
HPO |
|
OMIM:619736 |
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
|
|
G |
CDKL5 |
cyclin dependent kinase like 5 |
|
IAGP |
|
HPO |
|
ORPHA:1934 |
NCBI chr X:18,425,608...18,653,629
Ensembl chr X:18,425,583...18,653,629
|
|
G |
CDKN1C |
cyclin dependent kinase inhibitor 1C |
|
IAGP |
|
HPO |
|
ORPHA:397590 |
NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
|
|
G |
CDON |
cell adhesion associated, oncogene regulated |
|
IAGP |
|
HPO |
|
OMIM:614226 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
|
|
G |
CDT1 |
chromatin licensing and DNA replication factor 1 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258
|
|
G |
CENPF |
centromere protein F |
|
IAGP |
|
HPO |
|
OMIM:243605 |
NCBI chr 1:214,603,195...214,664,571
Ensembl chr 1:214,603,185...214,664,574
|
|
G |
CEP120 |
centrosomal protein 120 |
|
IAGP |
|
HPO |
|
OMIM:616300 ORPHA:220493 |
NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592
|
|
G |
CEP152 |
centrosomal protein 152 |
|
IAGP |
|
HPO |
|
OMIM:613823 |
NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146
|
|
G |
CEP290 |
centrosomal protein 290 |
|
IAGP |
|
HPO |
|
OMIM:610188 OMIM:611134 ORPHA:564 |
NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
|
|
G |
CEP41 |
centrosomal protein 41 |
|
IAGP |
|
HPO |
|
ORPHA:220493 |
NCBI chr 7:130,393,771...130,441,741
Ensembl chr 7:130,393,771...130,442,433
|
|
G |
CEP57 |
centrosomal protein 57 |
|
IAGP |
|
HPO |
|
ORPHA:1052 |
NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693
|
|
G |
CHD7 |
chromodomain helicase DNA binding protein 7 |
|
IAGP |
|
HPO |
|
OMIM:214800 OMIM:612370 ORPHA:138 ORPHA:432 ORPHA:478 |
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
|
|
G |
CHN1 |
chimerin 1 |
|
IAGP |
ClinVar Annotator: match by term: Cleft of palate |
ClinVar HPO |
PMID:25741868 |
ORPHA:233 |
NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381
|
|
G |
CHRNA1 |
cholinergic receptor nicotinic alpha 1 subunit |
|
IAGP |
|
HPO |
|
OMIM:253290 |
NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935
|
|
G |
CHRND |
cholinergic receptor nicotinic delta subunit |
|
IAGP |
|
HPO |
|
OMIM:253290 |
NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667
|
|
G |
CHRNG |
cholinergic receptor nicotinic gamma subunit |
|
IAGP |
|
HPO |
|
OMIM:253290 OMIM:265000 ORPHA:2990 |
NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
|
|
G |
CHST14 |
carbohydrate sulfotransferase 14 |
|
IAGP |
|
HPO |
|
OMIM:601776 ORPHA:2953 |
NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158
|
|
G |
CHST3 |
carbohydrate sulfotransferase 3 |
|
IAGP |
|
HPO |
|
OMIM:245600 |
NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558
|
|
G |
CHSY1 |
chondroitin sulfate synthase 1 |
|
IAGP |
|
HPO |
|
OMIM:605282 |
NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048
|
|
G |
COBLL1 |
cordon-bleu WH2 repeat protein like 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679
|
|
G |
COG1 |
component of oligomeric golgi complex 1 |
|
IAGP |
|
HPO |
|
OMIM:611209 |
NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507
|
|
G |
COL11A1 |
collagen type XI alpha 1 chain |
|
IAGP |
|
HPO |
|
OMIM:154780 OMIM:228520 OMIM:604841 ORPHA:2021 ORPHA:440354 ORPHA:560 ORPHA:90654 |
NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
|
|
G |
COL11A2 |
collagen type XI alpha 2 chain |
|
IAGP |
|
HPO |
|
OMIM:184840 OMIM:215150 ORPHA:1427 ORPHA:166100 ORPHA:2021 |
NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499
|
|
G |
COL2A1 |
collagen type II alpha 1 chain |
|
IAGP |
|
HPO |
|
OMIM:108300 OMIM:156550 OMIM:183900 OMIM:184250 OMIM:200610 ORPHA:166100 ORPHA:1856 ORPHA:485 ORPHA:85166 ORPHA:90653 ORPHA:94068 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
|
|
G |
COL4A1 |
collagen type IV alpha 1 chain |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157
|
|
G |
COL9A1 |
collagen type IX alpha 1 chain |
|
IAGP |
|
HPO |
|
ORPHA:250984 |
NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084
|
|
G |
COL9A2 |
collagen type IX alpha 2 chain |
|
IAGP |
|
HPO |
|
ORPHA:250984 |
NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813
|
|
G |
COL9A3 |
collagen type IX alpha 3 chain |
|
IAGP |
|
HPO |
|
ORPHA:250984 |
NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159
|
|
G |
COLEC10 |
collectin subfamily member 10 |
|
IAGP |
|
HPO |
|
OMIM:248340 |
NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455
|
|
G |
COLEC11 |
collectin subfamily member 11 |
|
IAGP |
|
HPO |
|
OMIM:265050 |
NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644
|
|
G |
COMT |
catechol-O-methyltransferase |
|
IAGP |
|
HPO |
|
ORPHA:567 |
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
|
|
G |
COX7B |
cytochrome c oxidase subunit 7B |
|
IAGP |
|
HPO |
|
OMIM:309801 |
NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376
|
|
G |
CPLANE1 |
ciliogenesis and planar polarity effector complex subunit 1 |
|
IAGP |
|
HPO |
|
OMIM:277170 ORPHA:2754 |
NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376
|
|
G |
CPLX1 |
complexin 1 |
|
IAGP |
|
HPO |
|
OMIM:194190 OMIM:617976 ORPHA:280 |
NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
|
|
G |
CREBBP |
CREB binding protein |
|
IAGP |
|
HPO |
|
OMIM:180849 OMIM:618332 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
|
|
G |
CRIPTO |
cripto, EGF-CFC family member |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457
|
|
G |
CRKL |
CRK like proto-oncogene, adaptor protein |
|
IAGP |
|
HPO |
|
ORPHA:261330 |
NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747
|
|
G |
CRPPA |
CDP-L-ribitol pyrophosphorylase A |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
|
|
G |
CSPP1 |
centrosome and spindle pole associated protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
|
|
G |
CTBP1 |
C-terminal binding protein 1 |
|
IAGP |
|
HPO |
|
OMIM:194190 ORPHA:280 |
NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
|
|
G |
CTCF |
CCCTC-binding factor |
|
IAGP |
|
HPO |
|
OMIM:615502 ORPHA:363611 |
NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
|
|
G |
CYP26C1 |
cytochrome P450 family 26 subfamily C member 1 |
|
IAGP |
|
HPO |
|
ORPHA:398189 |
NCBI chr10:93,060,798...93,069,540
Ensembl chr10:93,060,798...93,069,540
|
|
G |
DAG1 |
dystroglycan 1 |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618
|
|
G |
DCC |
DCC netrin 1 receptor |
|
IAGP |
|
HPO |
|
ORPHA:478 |
NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899
|
|
G |
DDX3X |
DEAD-box helicase 3 X-linked |
|
IAGP |
|
HPO |
|
OMIM:300958 ORPHA:3338 |
NCBI chr X:41,333,308...41,364,472
Ensembl chr X:41,333,348...41,364,472
|
|
G |
DDX59 |
DEAD-box helicase 59 |
|
IAGP |
|
HPO |
|
OMIM:174300 |
NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907
|
|
G |
DEAF1 |
DEAF1 transcription factor |
|
IAGP |
|
HPO |
|
ORPHA:819 |
NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118
|
|
G |
DEF6 |
DEF6 guanine nucleotide exchange factor |
|
IAGP |
|
HPO |
|
OMIM:619573 |
NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771
|
|
G |
DGCR2 |
DiGeorge syndrome critical region gene 2 |
|
IAGP |
|
HPO |
|
OMIM:192430 |
NCBI chr22:19,036,286...19,122,412
Ensembl chr22:19,036,282...19,122,454
|
|
G |
DGCR6 |
DiGeorge syndrome critical region gene 6 |
|
IAGP |
|
HPO |
|
OMIM:192430 |
NCBI chr22:18,906,223...18,912,088
Ensembl chr22:18,906,028...18,914,238
|
|
G |
DGCR8 |
DGCR8 microprocessor complex subunit |
|
IAGP |
|
HPO |
|
OMIM:192430 |
NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,221...20,111,877
|
|
G |
DHCR24 |
24-dehydrocholesterol reductase |
|
IAGP |
|
HPO |
|
OMIM:602398 ORPHA:35107 |
NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
|
|
G |
DHCR7 |
7-dehydrocholesterol reductase |
|
IAGP |
|
HPO |
|
OMIM:270400 ORPHA:818 |
NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
|
|
G |
DHODH |
dihydroorotate dehydrogenase (quinone) |
|
IAGP |
|
HPO |
|
OMIM:263750 ORPHA:246 |
NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664
|
|
G |
DISP1 |
dispatched RND transporter family member 1 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995
|
|
G |
DLG1 |
discs large MAGUK scaffold protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
|
|
G |
DLK1 |
delta like non-canonical Notch ligand 1 |
|
IAGP |
|
HPO |
|
ORPHA:96184 |
NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
|
|
G |
DLL1 |
delta like canonical Notch ligand 1 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565
|
|
G |
DLL3 |
delta like canonical Notch ligand 3 |
|
IAGP |
|
HPO |
|
ORPHA:2311 |
NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481
|
|
G |
DLX4 |
distal-less homeobox 4 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959
|
|
G |
DLX5 |
distal-less homeobox 5 |
|
IAGP |
|
HPO |
|
OMIM:183600 |
NCBI chr 7:97,020,396...97,024,831
Ensembl chr 7:97,020,396...97,024,950
|
|
G |
DMXL2 |
Dmx like 2 |
|
IAGP |
|
HPO |
|
ORPHA:1934 |
NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833
|
|
G |
DNAH11 |
dynein axonemal heavy chain 11 |
|
IAGP |
ClinVar Annotator: match by term: Cleft of palate |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839
|
|
G |
DOK7 |
docking protein 7 |
|
IAGP |
|
HPO |
|
ORPHA:994 |
NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473
|
|
G |
DONSON |
DNA replication fork stabilization factor DONSON |
|
IAGP |
|
HPO |
|
OMIM:251230 |
NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706
|
|
G |
DPH1 |
diphthamide biosynthesis 1 |
|
IAGP |
|
HPO |
|
ORPHA:459061 |
NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898
|
|
G |
DPH2 |
diphthamide biosynthesis 2 |
|
IAGP |
|
HPO |
|
ORPHA:459061 |
NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,970,000...43,973,369
|
|
G |
DPYSL5 |
dihydropyrimidinase like 5 |
|
IAGP |
|
HPO |
|
ORPHA:7 |
NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351
|
|
G |
DSE |
dermatan sulfate epimerase |
|
IAGP |
|
HPO |
|
ORPHA:2953 |
NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
|
|
G |
DSP |
desmoplakin |
|
IAGP |
|
HPO |
|
ORPHA:158687 |
NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714
|
|
G |
DUSP6 |
dual specificity phosphatase 6 |
|
IAGP |
|
HPO |
|
ORPHA:432 ORPHA:478 |
NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501
|
|
G |
DVL1 |
dishevelled segment polarity protein 1 |
|
IAGP |
|
HPO |
|
OMIM:616331 |
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
|
|
G |
DVL3 |
dishevelled segment polarity protein 3 |
|
IAGP |
|
HPO |
|
OMIM:616894 |
NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
|
|
G |
DYNC2H1 |
dynein cytoplasmic 2 heavy chain 1 |
|
IAGP |
|
HPO |
|
OMIM:613091 |
NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
|
|
G |
EARS2 |
glutamyl-tRNA synthetase 2, mitochondrial |
|
IAGP |
|
HPO |
|
OMIM:614924 |
NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731
|
|
G |
EBP |
EBP cholestenol delta-isomerase |
|
IAGP |
|
HPO |
|
ORPHA:401973 |
NCBI chr X:48,521,808...48,528,716
Ensembl chr X:48,521,799...48,528,716
|
|
G |
ECEL1 |
endothelin converting enzyme like 1 |
|
IAGP |
|
HPO |
|
OMIM:615065 |
NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834
|
|
G |
EDEM3 |
ER degradation enhancing alpha-mannosidase like protein 3 |
|
IAGP |
|
HPO |
|
OMIM:619493 |
NCBI chr 1:184,690,237...184,754,858
Ensembl chr 1:184,690,237...184,754,907
|
|
G |
EDN1 |
endothelin 1 |
|
IAGP |
|
HPO |
|
ORPHA:137888 |
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
|
|
G |
EDNRA |
endothelin receptor type A |
|
IAGP |
|
HPO |
|
OMIM:616367 |
NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954
|
|
G |
EFNB1 |
ephrin B1 |
|
IAGP |
|
HPO |
|
OMIM:304110 |
NCBI chr X:68,829,021...68,842,160
Ensembl chr X:68,829,021...68,842,160
|
|
G |
EFTUD2 |
elongation factor Tu GTP binding domain containing 2 |
|
IAGP |
|
HPO |
|
OMIM:610536 ORPHA:79113 |
NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,445
|
|
G |
EIF2S3 |
eukaryotic translation initiation factor 2 subunit gamma |
|
IAGP |
|
HPO |
|
OMIM:300148 |
NCBI chr X:24,054,956...24,078,810
Ensembl chr X:24,054,946...24,078,810
|
|
G |
EIF4A3 |
eukaryotic translation initiation factor 4A3 |
|
IAGP |
|
HPO |
|
OMIM:268305 |
NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151
|
|
G |
EIF5A |
eukaryotic translation initiation factor 5A |
|
IAGP |
|
HPO |
|
OMIM:619376 |
NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463
|
|
G |
EP300 |
E1A binding protein p300 |
|
IAGP |
|
HPO |
|
OMIM:180849 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
|
|
G |
EPG5 |
ectopic P-granules 5 autophagy tethering factor |
|
IAGP |
|
HPO |
|
OMIM:242840 |
NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329
|
|
G |
ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
|
|
G |
ERCC5 |
ERCC excision repair 5, endonuclease |
|
IAGP |
|
HPO |
|
OMIM:616570 |
NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
|
|
G |
ESCO2 |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
|
IAGP |
|
HPO |
|
OMIM:268300 ORPHA:3103 |
NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
|
|
G |
ESS2 |
ess-2 splicing factor homolog |
|
IAGP |
|
HPO |
|
OMIM:192430 |
NCBI chr22:19,130,279...19,144,651
Ensembl chr22:19,130,279...19,144,684
|
|
G |
EYA1 |
EYA transcriptional coactivator and phosphatase 1 |
|
IAGP |
|
HPO |
|
OMIM:113650 ORPHA:107 ORPHA:52429 |
NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025
|
|
G |
FAM149B1 |
family with sequence similarity 149 member B1 |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr10:73,168,119...73,244,504
Ensembl chr10:73,168,119...73,244,504
|
|
G |
FAM20C |
FAM20C golgi associated secretory pathway kinase |
|
IAGP |
|
HPO |
|
OMIM:259775 |
NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772
|
|
G |
FAM50A |
family with sequence similarity 50 member A |
|
IAGP |
|
HPO |
|
OMIM:300261 |
NCBI chr X:154,444,141...154,450,654
Ensembl chr X:154,444,141...154,450,654
|
|
G |
FANCA |
FA complementation group A |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
|
|
G |
FANCB |
FA complementation group B |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255
|
|
G |
FANCC |
FA complementation group C |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
|
|
G |
FANCD2 |
FA complementation group D2 |
|
IAGP |
ClinVar Annotator: match by term: Cleft palate |
ClinVar HPO |
PMID:25741868 PMID:25927356 PMID:28492532 |
ORPHA:84 |
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
|
|
G |
FANCD2OS |
FANCD2 opposite strand |
|
IAGP |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:25741868 PMID:25927356 PMID:28492532 |
|
NCBI chr 3:10,081,320...10,108,457
Ensembl chr 3:10,081,317...10,108,255
|
|
G |
FANCE |
FA complementation group E |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
|
|
G |
FANCF |
FA complementation group F |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
|
|
G |
FANCG |
FA complementation group G |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
|
|
G |
FANCI |
FA complementation group I |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
|
|
G |
FANCL |
FA complementation group L |
|
IAGP |
|
HPO |
|
OMIM:614083 ORPHA:84 |
NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
|
|
G |
FANCM |
FA complementation group M |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
|
|
G |
FBXO11 |
F-box protein 11 |
|
IAGP |
|
HPO |
|
OMIM:618089 |
NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498
|
|
G |
FEZF1 |
FEZ family zinc finger 1 |
|
IAGP |
|
HPO |
|
ORPHA:478 |
NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691
|
|
G |
FGD1 |
FYVE, RhoGEF and PH domain containing 1 |
|
IAGP |
|
HPO |
|
OMIM:305400 ORPHA:915 |
NCBI chr X:54,445,454...54,496,234
Ensembl chr X:54,445,454...54,496,234
|
|
G |
FGF17 |
fibroblast growth factor 17 |
|
IAGP |
|
HPO |
|
ORPHA:432 ORPHA:478 |
NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809
|
|
G |
FGF20 |
fibroblast growth factor 20 |
|
IAGP |
|
HPO |
|
ORPHA:1848 |
NCBI chr 8:16,992,181...17,002,345
Ensembl chr 8:16,992,181...17,002,345
|
|
G |
FGF8 |
fibroblast growth factor 8 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:280200 ORPHA:432 ORPHA:478 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
|
|
G |
FGF9 |
fibroblast growth factor 9 |
|
IAGP |
|
HPO |
|
OMIM:612961 |
NCBI chr13:21,671,073...21,704,498
Ensembl chr13:21,671,073...21,704,498
|
|
G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
IAGP |
|
HPO |
|
OMIM:147950 OMIM:615465 ORPHA:2117 ORPHA:220386 ORPHA:280200 ORPHA:3157 ORPHA:432 ORPHA:478 ORPHA:93924 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
|
|
G |
FGFR2 |
fibroblast growth factor receptor 2 |
|
IAGP |
|
HPO |
|
OMIM:101200 OMIM:101400 ORPHA:1555 ORPHA:794 ORPHA:87 ORPHA:93259 ORPHA:93260 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
|
|
G |
FGFR3 |
fibroblast growth factor receptor 3 |
|
IAGP |
|
HPO |
|
ORPHA:794 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
|
|
G |
FGFRL1 |
fibroblast growth factor receptor like 1 |
|
IAGP |
|
HPO |
|
OMIM:194190 |
NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898
|
|
G |
FKRP |
fukutin related protein |
|
IAGP |
|
HPO |
|
OMIM:236670 ORPHA:899 |
NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
|
|
G |
FKTN |
fukutin |
|
IAGP |
|
HPO |
|
OMIM:236670 ORPHA:899 |
NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820
|
|
G |
FLII |
FLII actin remodeling protein |
|
IAGP |
|
HPO |
|
ORPHA:819 |
NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738
|
|
G |
FLNA |
filamin A |
|
IAGP |
ClinVar Annotator: match by term: Cleft hard and soft palate |
HPO ClinVar |
PMID:3265608 PMID:6019437 PMID:11704759 PMID:11992261 PMID:12612583 PMID:15917206 PMID:16538226 PMID:20979190 PMID:22465605 PMID:25741868 PMID:28492532 PMID:31942422 More...
|
OMIM:300244 OMIM:304120 OMIM:305620 OMIM:309350 OMIM:311300 ORPHA:1826 ORPHA:90650 ORPHA:90652 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
|
|
G |
FLNB |
filamin B |
|
IAGP |
|
HPO |
|
OMIM:108720 OMIM:108721 OMIM:150250 OMIM:272460 ORPHA:1190 ORPHA:503 |
NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
|
|
G |
FLRT3 |
fibronectin leucine rich transmembrane protein 3 |
|
IAGP |
|
HPO |
|
ORPHA:478 |
NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614
|
|
G |
FLVCR2 |
FLVCR choline and putative heme transporter 2 |
|
IAGP |
|
HPO |
|
OMIM:225790 |
NCBI chr14:75,578,620...75,648,167
Ensembl chr14:75,578,620...75,663,214
|
|
G |
FOXC2 |
forkhead box C2 |
|
IAGP |
|
HPO |
|
OMIM:153400 ORPHA:33001 |
NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728
|
|
G |
FOXE1 |
forkhead box E1 |
|
IAGP |
|
HPO |
|
OMIM:241850 ORPHA:1226 |
NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717
|
|
G |
FOXF1 |
forkhead box F1 |
|
IAGP |
|
HPO |
|
OMIM:265380 |
NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422
|
|
G |
FOXH1 |
forkhead box H1 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849
|
|
G |
FRAS1 |
Fraser extracellular matrix complex subunit 1 |
|
IAGP |
|
HPO |
|
OMIM:219000 |
NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
|
|
G |
FTO |
FTO alpha-ketoglutarate dependent dioxygenase |
|
IAGP |
|
HPO |
|
OMIM:612938 |
NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512
|
|
G |
FZD2 |
frizzled class receptor 2 |
|
IAGP |
|
HPO |
|
OMIM:164745 |
NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
|
|
G |
G6PC3 |
glucose-6-phosphatase catalytic subunit 3 |
|
IAGP |
|
HPO |
|
OMIM:612541 |
NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151
|
|
G |
GABRA3 |
gamma-aminobutyric acid type A receptor subunit alpha3 |
|
IAGP |
|
HPO |
|
OMIM:301091 |
NCBI chr X:152,166,234...152,451,315
Ensembl chr X:152,166,234...152,451,315
|
|
G |
GAD1 |
glutamate decarboxylase 1 |
|
IAGP |
|
HPO |
|
OMIM:619124 |
NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151
|
|
G |
GAS1 |
growth arrest specific 1 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506
|
|
G |
GATA3 |
GATA binding protein 3 |
|
IAGP |
|
HPO |
|
ORPHA:2237 |
NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198
|
|
G |
GDF3 |
growth differentiation factor 3 |
|
IAGP |
|
HPO |
|
ORPHA:2345 |
NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775
|
|
G |
GDF6 |
growth differentiation factor 6 |
|
IAGP |
|
HPO |
|
OMIM:118100 ORPHA:2345 |
NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806
|
|
G |
GFRA1 |
GDNF family receptor alpha 1 |
|
IAGP |
|
HPO |
|
ORPHA:1848 |
NCBI chr10:116,056,925...116,274,705
Ensembl chr10:116,056,925...116,276,803
|
|
G |
GJA1 |
gap junction protein alpha 1 |
|
IAGP |
|
HPO |
|
OMIM:164200 ORPHA:2710 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
|
|
G |
GJB2 |
gap junction protein beta 2 |
|
IAGP |
|
HPO |
|
ORPHA:494 |
NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
|
|
G |
GLI2 |
GLI family zinc finger 2 |
|
IAGP |
|
HPO |
|
OMIM:610829 OMIM:615849 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
|
|
G |
GLI3 |
GLI family zinc finger 3 |
|
IAGP |
|
HPO |
|
OMIM:146510 ORPHA:672 ORPHA:93322 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
|
|
G |
GMNN |
geminin DNA replication inhibitor |
|
IAGP |
|
HPO |
|
OMIM:616835 ORPHA:2554 |
NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
|
|
G |
GMPPB |
GDP-mannose pyrophosphorylase B |
|
IAGP |
|
HPO |
|
OMIM:615350 |
NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
|
|
G |
GNAI3 |
G protein subunit alpha i3 |
|
IAGP |
|
HPO |
|
OMIM:602483 ORPHA:137888 |
NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,615...109,600,195
|
|
G |
GNAO1 |
G protein subunit alpha o1 |
|
IAGP |
|
HPO |
|
ORPHA:1934 |
NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,191,390...56,357,444
|
|
G |
GNB1 |
G protein subunit beta 1 |
|
IAGP |
ClinVar Annotator: match by term: Cleft of palate |
ClinVar HPO |
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32963807 More...
|
OMIM:616973 ORPHA:488613 |
NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292
|
|
G |
GNRH1 |
gonadotropin releasing hormone 1 |
|
IAGP |
|
HPO |
|
ORPHA:432 |
NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654
|
|
G |
GNRHR |
gonadotropin releasing hormone receptor |
|
IAGP |
|
HPO |
|
ORPHA:432 |
NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388
|
|
G |
GP1BB |
glycoprotein Ib platelet subunit beta |
|
IAGP |
|
HPO |
|
ORPHA:567 |
NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
|
|
G |
GPC3 |
glypican 3 |
|
IAGP |
|
HPO |
|
OMIM:312870 ORPHA:373 |
NCBI chr X:133,535,745...133,985,594
Ensembl chr X:133,535,745...133,987,100
|
|
G |
GPC4 |
glypican 4 |
|
IAGP |
|
HPO |
|
OMIM:312870 ORPHA:373 |
NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489
|
|
G |
GREB1L |
GREB1 like retinoic acid receptor coactivator |
|
IAGP |
|
HPO |
|
ORPHA:1848 |
NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112
|
|
G |
GRHL3 |
grainyhead like transcription factor 3 |
|
IAGP |
|
HPO |
|
OMIM:606713 ORPHA:888 |
NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482
|
|
G |
GRIN1 |
glutamate ionotropic receptor NMDA type subunit 1 |
|
IAGP |
|
HPO |
|
ORPHA:1934 |
NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756
|
|
G |
GRM7 |
glutamate metabotropic receptor 7 |
|
IAGP |
|
HPO |
|
ORPHA:1934 |
NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533
|
|
G |
H4C5 |
H4 clustered histone 5 |
|
IAGP |
|
HPO |
|
OMIM:619950 |
NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021
|
|
G |
HCCS |
holocytochrome c synthase |
|
IAGP |
|
HPO |
|
OMIM:309801 |
NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086
|
|
G |
HDAC8 |
histone deacetylase 8 |
|
IAGP |
|
HPO |
|
OMIM:300882 ORPHA:199 |
NCBI chr X:72,329,516...72,572,843
Ensembl chr X:72,329,516...72,573,101
|
|
G |
HDAC9 |
histone deacetylase 9 |
|
IAGP |
|
HPO |
|
OMIM:620457 |
NCBI chr 7:18,086,825...19,002,416
Ensembl chr 7:18,086,949...19,002,416
|
|
G |
HES7 |
hes family bHLH transcription factor 7 |
|
IAGP |
|
HPO |
|
ORPHA:2311 |
NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106
|
|
G |
HESX1 |
HESX homeobox 1 |
|
IAGP |
|
HPO |
|
ORPHA:3157 ORPHA:478 |
NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
|
|
G |
HIRA |
histone cell cycle regulator |
|
IAGP |
|
HPO |
|
ORPHA:567 |
NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
|
|
G |
HMGA2 |
high mobility group AT-hook 2 |
|
IAGP |
|
HPO |
|
ORPHA:397590 |
NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291
|
|
G |
HNRNPK |
heterogeneous nuclear ribonucleoprotein K |
|
IAGP |
|
HPO |
|
OMIM:616580 ORPHA:352665 ORPHA:453504 |
NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631
|
|
G |
HOXA2 |
homeobox A2 |
|
IAGP |
|
HPO |
|
OMIM:612290 |
NCBI chr 7:27,100,354...27,102,683
Ensembl chr 7:27,100,354...27,102,686
|
|
G |
HOXD13 |
homeobox D13 |
|
IAGP |
|
HPO |
|
ORPHA:887 |
NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
|
|
G |
HS6ST1 |
heparan sulfate 6-O-sulfotransferase 1 |
|
IAGP |
|
HPO |
|
OMIM:614880 ORPHA:432 ORPHA:478 |
NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868
|
|
G |
HSPG2 |
heparan sulfate proteoglycan 2 |
|
IAGP |
|
HPO |
|
ORPHA:1865 ORPHA:800 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
|
|
G |
HYLS1 |
HYLS1 centriolar and ciliogenesis associated |
|
IAGP |
|
HPO |
|
OMIM:236680 ORPHA:2189 |
NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
|
|
G |
IGBP1 |
immunoglobulin binding protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:52055 |
NCBI chr X:70,133,447...70,166,324
Ensembl chr X:70,133,447...70,166,324
|
|
G |
IGF2 |
insulin like growth factor 2 |
|
IAGP |
|
HPO |
|
ORPHA:397590 |
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
|
|
G |
IL17RD |
interleukin 17 receptor D |
|
IAGP |
|
HPO |
|
ORPHA:478 |
NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306
|
|
G |
IL6ST |
interleukin 6 cytokine family signal transducer |
|
IAGP |
|
HPO |
|
ORPHA:2314 |
NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
|
|
G |
INPP5E |
inositol polyphosphate-5-phosphatase E |
|
IAGP |
ClinVar Annotator: match by term: Cleft hard and soft palate |
ClinVar HPO |
PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 PMID:28492532 PMID:29186038 PMID:33749171 PMID:34188062 More...
|
ORPHA:220493 |
NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
|
|
G |
INPPL1 |
inositol polyphosphate phosphatase like 1 |
|
IAGP |
|
HPO |
|
ORPHA:3144 |
NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147
|
|
G |
INTS1 |
integrator complex subunit 1 |
|
IAGP |
|
HPO |
|
OMIM:618571 |
NCBI chr 7:1,470,277...1,504,389
Ensembl chr 7:1,470,277...1,504,389
|
|
G |
INTU |
inturned planar cell polarity protein |
|
IAGP |
|
HPO |
|
OMIM:617925 |
NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737
|
|
G |
IQSEC2 |
IQ motif and Sec7 domain ArfGEF 2 |
|
IAGP |
|
HPO |
|
ORPHA:819 |
NCBI chr X:53,225,813...53,321,350
Ensembl chr X:53,225,828...53,321,350
|
|
G |
IRF6 |
interferon regulatory factor 6 |
|
IAGP |
ClinVar Annotator: match by term: Cleft of palate |
ClinVar HPO |
PMID:12920575 PMID:25741868 |
OMIM:119300 OMIM:119500 OMIM:608864 ORPHA:1300 ORPHA:199306 ORPHA:888 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
|
|
G |
ITGA8 |
integrin subunit alpha 8 |
|
IAGP |
|
HPO |
|
ORPHA:1848 |
NCBI chr10:15,513,954...15,719,922
Ensembl chr10:15,513,954...15,719,922
|
|
G |
JARID2 |
jumonji and AT-rich interaction domain containing 2 |
|
IAGP |
|
HPO |
|
OMIM:620098 |
NCBI chr 6:15,246,069...15,522,042
Ensembl chr 6:15,246,069...15,522,042
|
|
G |
JMJD1C |
jumonji domain containing 1C |
|
IAGP |
|
HPO |
|
ORPHA:567 |
NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
|
|
G |
JUP |
junction plakoglobin |
|
IAGP |
|
HPO |
|
ORPHA:158687 |
NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931
|
|
G |
KANSL1 |
KAT8 regulatory NSL complex subunit 1 |
|
IAGP |
|
HPO |
|
OMIM:610443 |
NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
|
|
G |
KAT6A |
lysine acetyltransferase 6A |
|
IAGP |
|
HPO |
|
OMIM:616268 ORPHA:457193 |
NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994
|
|
G |
KAT6B |
lysine acetyltransferase 6B |
|
IAGP |
|
HPO |
|
OMIM:603736 |
NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
|
|
G |
KATNIP |
katanin interacting protein |
|
IAGP |
|
HPO |
|
OMIM:616784 |
NCBI chr16:27,550,144...27,780,344
Ensembl chr16:27,550,133...27,780,344
|
|
G |
KCNA1 |
potassium voltage-gated channel subfamily A member 1 |
|
IAGP |
|
HPO |
|
ORPHA:1934 |
NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256
|
|
G |
KCNH1 |
potassium voltage-gated channel subfamily H member 1 |
|
IAGP |
|
HPO |
|
ORPHA:3473 |
NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
|
|
G |
KCNJ2 |
potassium inwardly rectifying channel subfamily J member 2 |
|
IAGP |
|
HPO |
|
OMIM:170390 |
NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
|
|
G |
KCNMA1 |
potassium calcium-activated channel subfamily M alpha 1 |
|
IAGP |
|
HPO |
|
ORPHA:3473 |
NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369
|
|
G |
KCNN3 |
potassium calcium-activated channel subfamily N member 3 |
|
IAGP |
|
HPO |
|
ORPHA:3473 |
NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281
|
|
G |
KDF1 |
keratinocyte differentiation factor 1 |
|
IAGP |
|
HPO |
|
OMIM:617337 |
NCBI chr 1:26,949,562...26,960,468
Ensembl chr 1:26,949,562...26,960,468
|
|
G |
KDM6A |
lysine demethylase 6A |
|
IAGP |
|
HPO |
|
OMIM:147920 OMIM:300867 ORPHA:2322 |
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
|
|
G |
KIAA0586 |
KIAA0586 |
|
IAGP |
|
HPO |
|
OMIM:616546 |
NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
|
|
G |
KIAA0753 |
KIAA0753 |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
|
|
G |
KIF15 |
kinesin family member 15 |
|
IAGP |
|
HPO |
|
OMIM:619981 |
NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376
|
|
G |
KIF1A |
kinesin family member 1A |
|
IAGP |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
|
|
G |
KIF21A |
kinesin family member 21A |
|
IAGP |
|
HPO |
|
ORPHA:994 |
NCBI chr12:39,293,228...39,443,120
Ensembl chr12:39,293,228...39,443,390
|
|
G |
KIF7 |
kinesin family member 7 |
|
IAGP |
|
HPO |
|
OMIM:200990 OMIM:614120 ORPHA:2189 ORPHA:2754 |
NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
|
|
G |
KIFBP |
kinesin family binding protein |
|
IAGP |
|
HPO |
|
ORPHA:66629 |
NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544
|
|
G |
KISS1 |
KiSS-1 metastasis suppressor |
|
IAGP |
|
HPO |
|
ORPHA:432 |
NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491
|
|
G |
KISS1R |
KISS1 receptor |
|
IAGP |
|
HPO |
|
ORPHA:432 |
NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005
|
|
G |
KLHL41 |
kelch like family member 41 |
|
IAGP |
|
HPO |
|
OMIM:615731 |
NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258
|
|
G |
KMT2D |
lysine methyltransferase 2D |
|
IAGP |
|
HPO |
|
OMIM:147920 ORPHA:2322 |
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
|
|
G |
LARGE1 |
LARGE xylosyl- and glucuronyltransferase 1 |
|
IAGP |
|
HPO |
|
OMIM:236670 ORPHA:899 |
NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
|
|
G |
LARS2 |
leucyl-tRNA synthetase 2, mitochondrial |
|
IAGP |
|
HPO |
|
OMIM:615300 |
NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726
|
|
G |
LEMD3 |
LEM domain containing 3 |
|
IAGP |
|
HPO |
|
ORPHA:166119 |
NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
|
|
G |
LETM1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
|
IAGP |
|
HPO |
|
OMIM:194190 ORPHA:280 |
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
|
|
G |
LFNG |
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase |
|
IAGP |
|
HPO |
|
ORPHA:2311 |
NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177
|
|
G |
LMBRD1 |
LMBR1 domain containing 1 |
|
IAGP |
|
HPO |
|
ORPHA:79284 |
NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236
|
|
G |
LMX1B |
LIM homeobox transcription factor 1 beta |
|
IAGP |
|
HPO |
|
OMIM:161200 |
NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
|
|
G |
LRRC32 |
leucine rich repeat containing 32 |
|
IAGP |
ClinVar Annotator: match by term: Cleft of palate |
ClinVar HPO |
PMID:30976112 |
OMIM:619074 |
NCBI chr11:76,657,524...76,670,747
Ensembl chr11:76,657,524...76,670,747
|
|
G |
MAD2L2 |
mitotic arrest deficient 2 like 2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,658,918...11,691,811
|
|
G |
MAF |
MAF bZIP transcription factor |
|
IAGP |
|
HPO |
|
ORPHA:1272 |
NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737
|
|
G |
MAFB |
MAF bZIP transcription factor B |
|
IAGP |
|
HPO |
|
ORPHA:233 |
NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
|
|
G |
MAMLD1 |
mastermind like domain containing 1 |
|
IAGP |
|
HPO |
|
ORPHA:95706 |
NCBI chr X:150,361,572...150,514,173
Ensembl chr X:150,361,422...150,514,178
|
|
G |
MAP2K1 |
mitogen-activated protein kinase kinase 1 |
|
IAGP |
|
HPO |
|
OMIM:163950 |
NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
|
|
G |
MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
|
IAGP |
|
HPO |
|
OMIM:617137 ORPHA:1826 |
NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
|
|
G |
MAPK1 |
mitogen-activated protein kinase 1 |
|
IAGP |
|
HPO |
|
ORPHA:261330 |
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
|
|
G |
MAPRE2 |
microtubule associated protein RP/EB family member 2 |
|
IAGP |
|
HPO |
|
OMIM:616734 ORPHA:2505 |
NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470
|
|
G |
MASP1 |
MBL associated serine protease 1 |
|
IAGP |
|
HPO |
|
OMIM:257920 |
NCBI chr 3:187,217,282...187,291,737
Ensembl chr 3:187,217,282...187,291,980
|
|
G |
MBTPS2 |
membrane bound transcription factor peptidase, site 2 |
|
IAGP |
|
HPO |
|
OMIM:308205 ORPHA:85284 |
NCBI chr X:21,839,617...21,885,423
Ensembl chr X:21,839,617...21,885,423
|
|
G |
MCTP2 |
multiple C2 and transmembrane domain containing 2 |
|
IAGP |
|
HPO |
|
ORPHA:1596 |
NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952
|
|
G |
MECOM |
MDS1 and EVI1 complex locus |
|
IAGP |
|
HPO |
|
OMIM:616738 |
NCBI chr 3:169,083,507...169,663,712
Ensembl chr 3:169,083,499...169,663,775
|
|
G |
MED12 |
mediator complex subunit 12 |
|
IAGP |
|
HPO |
|
OMIM:305450 ORPHA:2728 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
|
|
G |
MED25 |
mediator complex subunit 25 |
|
IAGP |
|
HPO |
|
OMIM:616449 ORPHA:464738 |
NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
|
|
G |
MEG3 |
maternally expressed 3 |
|
IAGP |
|
HPO |
|
ORPHA:96184 |
NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
|
|
G |
MEGF10 |
multiple EGF like domains 10 |
|
IAGP |
|
HPO |
|
OMIM:614399 OMIM:620249 |
NCBI chr 5:127,229,300...127,461,222
Ensembl chr 5:127,290,796...127,465,737
|
|
G |
MEIS2 |
Meis homeobox 2 |
|
IAGP |
|
HPO |
|
OMIM:600987 ORPHA:261190 |
NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299
|
|
G |
MEOX1 |
mesenchyme homeobox 1 |
|
IAGP |
|
HPO |
|
OMIM:214300 ORPHA:2345 |
NCBI chr17:43,640,389...43,661,922
Ensembl chr17:43,640,389...43,661,922
|
|
G |
MESP2 |
mesoderm posterior bHLH transcription factor 2 |
|
IAGP |
|
HPO |
|
ORPHA:2311 |
NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754
|
|
G |
MID1 |
midline 1 |
|
IAGP |
|
HPO |
|
OMIM:300000 ORPHA:2745 |
NCBI chr X:10,445,310...10,833,683
Ensembl chr X:10,445,310...10,833,654
|
|
G |
MKKS |
MKKS centrosomal shuttling protein |
|
IAGP |
|
HPO |
|
ORPHA:2473 |
NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
|
|
G |
MKS1 |
MKS transition zone complex subunit 1 |
|
IAGP |
|
HPO |
|
OMIM:249000 ORPHA:220493 ORPHA:564 |
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
|
|
G |
MSX1 |
msh homeobox 1 |
|
IAGP |
|
HPO |
|
OMIM:608874 ORPHA:199306 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
|
|
G |
MSX2 |
msh homeobox 2 |
|
IAGP |
|
HPO |
|
OMIM:168500 ORPHA:60015 |
NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896
|
|
G |
MT-CYB |
mitochondrially encoded cytochrome b |
|
IAGP |
|
HPO |
|
ORPHA:137675 |
NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887
|
|
G |
MUSK |
muscle associated receptor tyrosine kinase |
|
IAGP |
|
HPO |
|
OMIM:208150 ORPHA:994 |
NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558
|
|
G |
MYH3 |
myosin heavy chain 3 |
|
IAGP |
|
HPO |
|
OMIM:178110 OMIM:618469 ORPHA:2990 |
NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
|
|
G |
MYL11 |
myosin light chain 11 |
|
IAGP |
|
HPO |
|
OMIM:619110 |
NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991
|
|
G |
MYMK |
myomaker, myoblast fusion factor |
|
IAGP |
|
HPO |
|
OMIM:254940 ORPHA:1358 |
NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612
|
|
G |
MYMX |
myomixer, myoblast fusion factor |
|
IAGP |
|
HPO |
|
ORPHA:1358 |
NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,234
|
|
G |
MYO15A |
myosin XVA |
|
IAGP |
ClinVar Annotator: match by term: Cleft of palate |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532 |
|
NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802
|
|
G |
MYO19 |
myosin XIX |
|
IAGP |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr17:36,495,636...36,544,815
Ensembl chr17:36,495,636...36,543,435
|
|
G |
MYOD1 |
myogenic differentiation 1 |
|
IAGP |
|
HPO |
|
OMIM:618975 ORPHA:994 |
NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136
|
|
G |
NAE1 |
NEDD8 activating enzyme E1 subunit 1 |
|
IAGP |
|
HPO |
|
OMIM:620210 |
NCBI chr16:66,802,878...66,830,976
Ensembl chr16:66,802,875...66,873,256
|
|
G |
NBN |
nibrin |
|
IAGP |
|
HPO |
|
OMIM:251260 ORPHA:647 |
NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228
|
|
G |
NDNF |
neuron derived neurotrophic factor |
|
IAGP |
|
HPO |
|
ORPHA:478 |
NCBI chr 4:121,035,613...121,072,535
Ensembl chr 4:121,035,613...121,073,021
|
|
G |
NDUFB11 |
NADH:ubiquinone oxidoreductase subunit B11 |
|
IAGP |
|
HPO |
|
OMIM:309801 |
NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466
|
|
G |
NEB |
nebulin |
|
IAGP |
|
HPO |
|
OMIM:256030 |
NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487
|
|
G |
NECTIN1 |
nectin cell adhesion molecule 1 |
|
IAGP |
|
HPO |
|
OMIM:225060 ORPHA:199306 |
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
|
|
G |
NEDD4L |
NEDD4 like E3 ubiquitin protein ligase |
|
IAGP |
|
HPO |
|
OMIM:617201 |
NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540
|
|
G |
NEK1 |
NIMA related kinase 1 |
|
IAGP |
|
HPO |
|
OMIM:252100 OMIM:263520 ORPHA:2751 |
NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
|
|
G |
NELFA |
negative elongation factor complex member A |
|
IAGP |
|
HPO |
|
ORPHA:280 |
NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903
|
|
G |
NEUROD2 |
neuronal differentiation 2 |
|
IAGP |
|
HPO |
|
ORPHA:1934 |
NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777
|
|
G |
NFASC |
neurofascin |
|
IAGP |
|
HPO |
|
OMIM:618356 |
NCBI chr 1:204,828,652...205,022,822
Ensembl chr 1:204,828,651...205,022,822
|
|
G |
NFIX |
nuclear factor I X |
|
IAGP |
|
HPO |
|
ORPHA:447980 |
NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
|
|
G |
NHLH2 |
nescient helix-loop-helix 2 |
|
IAGP |
|
HPO |
|
ORPHA:432 |
NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917
|
|
G |
NIPBL |
NIPBL cohesin loading factor |
|
IAGP |
|
HPO |
|
OMIM:122470 ORPHA:199 |
NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
|
|
G |
NODAL |
nodal growth differentiation factor |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
|
|
G |
NOTCH2 |
notch receptor 2 |
|
IAGP |
|
HPO |
|
ORPHA:955 |
NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
|
|
G |
NOTCH3 |
notch receptor 3 |
|
IAGP |
|
HPO |
|
OMIM:130720 |
NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
|
|
G |
NPHP1 |
nephrocystin 1 |
|
IAGP |
|
HPO |
|
ORPHA:220497 |
NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
|
|
G |
NSD1 |
nuclear receptor binding SET domain protein 1 |
|
IAGP |
ClinVar Annotator: match by term: Cleft of palate |
ClinVar |
PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:18414213 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
|
|
G |
NSD2 |
nuclear receptor binding SET domain protein 2 |
|
IAGP |
|
HPO |
|
OMIM:194190 ORPHA:280 |
NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
|
|
G |
NSMF |
NMDA receptor synaptonuclear signaling and neuronal migration factor |
|
IAGP |
|
HPO |
|
OMIM:614838 ORPHA:432 |
NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334
|
|
G |
NUP107 |
nucleoporin 107 |
|
IAGP |
|
HPO |
|
OMIM:616730 OMIM:618348 |
NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809
|
|
G |
NUP88 |
nucleoporin 88 |
|
IAGP |
|
HPO |
|
ORPHA:994 |
NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164
|
|
G |
OFD1 |
OFD1 centriole and centriolar satellite protein |
|
IAGP |
|
HPO |
|
OMIM:311200 ORPHA:2750 ORPHA:2754 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
|
|
G |
ORC1 |
origin recognition complex subunit 1 |
|
IAGP |
|
HPO |
|
OMIM:224690 ORPHA:2554 |
NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423
|
|
G |
ORC4 |
origin recognition complex subunit 4 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604
|
|
G |
ORC6 |
origin recognition complex subunit 6 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394
|
|
G |
OTX2 |
orthodenticle homeobox 2 |
|
IAGP |
|
HPO |
|
OMIM:610125 ORPHA:3157 |
NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
|
|
G |
PALB2 |
partner and localizer of BRCA2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
|
|
G |
PAX3 |
paired box 3 |
|
IAGP |
|
HPO |
|
ORPHA:894 |
NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998
|
|
G |
PDE6D |
phosphodiesterase 6D |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272
|
|
G |
PDGFRA |
platelet derived growth factor receptor alpha |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
|
|
G |
PDZD8 |
PDZ domain containing 8 |
|
IAGP |
|
HPO |
|
OMIM:620021 |
NCBI chr10:117,277,274...117,375,440
Ensembl chr10:117,277,274...117,375,440
|
|
G |
PEX2 |
peroxisomal biogenesis factor 2 |
|
IAGP |
|
HPO |
|
OMIM:614866 |
NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044
|
|
G |
PEX5 |
peroxisomal biogenesis factor 5 |
|
IAGP |
|
HPO |
|
OMIM:214110 |
NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
|
|
G |
PEX7 |
peroxisomal biogenesis factor 7 |
|
IAGP |
|
HPO |
|
OMIM:215100 |
NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934
|
|
G |
PGAP2 |
post-GPI attachment to proteins 2 |
|
IAGP |
|
HPO |
|
OMIM:614207 |
NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371
|
|
G |
PGAP3 |
post-GPI attachment to proteins phospholipase 3 |
|
IAGP |
ClinVar Annotator: match by term: Cleft of palate |
ClinVar HPO |
PMID:25741868 PMID:30345601 |
OMIM:615716 |
NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797
|
|
G |
PGM1 |
phosphoglucomutase 1 |
|
IAGP |
|
HPO |
|
OMIM:614921 |
NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245
|
|
G |
PHF8 |
PHD finger protein 8 |
|
IAGP |
|
HPO |
|
OMIM:300263 |
NCBI chr X:53,936,680...54,048,936
Ensembl chr X:53,936,676...54,048,958
|
|
G |
PHGDH |
phosphoglycerate dehydrogenase |
|
IAGP |
|
HPO |
|
OMIM:256520 |
NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218
|
|
G |
PIEZO2 |
piezo type mechanosensitive ion channel component 2 |
|
IAGP |
|
HPO |
|
OMIM:114300 OMIM:248700 ORPHA:2461 ORPHA:376 |
NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
|
|
G |
PIGG |
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) |
|
IAGP |
|
HPO |
|
ORPHA:280 |
NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
|
|
G |
PIGL |
phosphatidylinositol glycan anchor biosynthesis class L |
|
IAGP |
|
HPO |
|
OMIM:280000 ORPHA:3474 |
NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
|
|
G |
PIGN |
phosphatidylinositol glycan anchor biosynthesis class N |
|
IAGP |
|
HPO |
|
OMIM:614080 ORPHA:2059 |
NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118
|
|
G |
PIGO |
phosphatidylinositol glycan anchor biosynthesis class O |
|
IAGP |
|
HPO |
|
OMIM:614749 |
NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,087,237...35,096,619
|
|
G |
PIGP |
phosphatidylinositol glycan anchor biosynthesis class P |
|
IAGP |
|
HPO |
|
ORPHA:1934 |
NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170
|
|
G |
PIGQ |
phosphatidylinositol glycan anchor biosynthesis class Q |
|
IAGP |
|
HPO |
|
ORPHA:1934 |
NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109
|
|
G |
PIGV |
phosphatidylinositol glycan anchor biosynthesis class V |
|
IAGP |
|
HPO |
|
OMIM:239300 |
NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659
|
|
G |
PIGW |
phosphatidylinositol glycan anchor biosynthesis class W |
|
IAGP |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr17:36,534,987...36,539,303
Ensembl chr17:36,534,987...36,539,310
|
|
G |
PLAG1 |
PLAG1 zinc finger |
|
IAGP |
|
HPO |
|
ORPHA:397590 |
NCBI chr 8:56,160,909...56,211,273
Ensembl chr 8:56,160,909...56,211,324
|
|
G |
PLCB4 |
phospholipase C beta 4 |
|
IAGP |
|
HPO |
|
OMIM:614669 ORPHA:137888 |
NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593
|
|
G |
PLCH1 |
phospholipase C eta 1 |
|
IAGP |
|
HPO |
|
OMIM:619895 ORPHA:93925 |
NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071
|
|
G |
PLXND1 |
plexin D1 |
|
IAGP |
|
HPO |
|
ORPHA:570 |
NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
|
|
G |
PNKP |
polynucleotide kinase 3'-phosphatase |
|
IAGP |
|
HPO |
|
ORPHA:1934 |
NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351
|
|
G |
POGZ |
pogo transposable element derived with ZNF domain |
|
IAGP |
|
HPO |
|
OMIM:616364 |
NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494
|
|
G |
POLR1A |
RNA polymerase I subunit A |
|
IAGP |
|
HPO |
|
OMIM:616462 |
NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155
|
|
G |
POLR1B |
RNA polymerase I subunit B |
|
IAGP |
|
HPO |
|
OMIM:618939 ORPHA:861 |
NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818
|
|
G |
POLR1C |
RNA polymerase I and III subunit C |
|
IAGP |
|
HPO |
|
OMIM:248390 ORPHA:861 |
NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419
|
|
G |
POLR1D |
RNA polymerase I and III subunit D |
|
IAGP |
|
HPO |
|
OMIM:613717 ORPHA:861 |
NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237
|
|
G |
POLR2A |
RNA polymerase II subunit A |
|
IAGP |
|
HPO |
|
OMIM:618603 |
NCBI chr17:7,484,366...7,514,616
Ensembl chr17:7,484,366...7,514,616
|
|
G |
POMGNT1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305
|
|
G |
POMGNT2 |
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085
|
|
G |
POMK |
protein O-mannose kinase |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180
|
|
G |
POMT1 |
protein O-mannosyltransferase 1 |
|
IAGP |
|
HPO |
|
OMIM:236670 ORPHA:899 |
NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
|
|
G |
POMT2 |
protein O-mannosyltransferase 2 |
|
IAGP |
|
HPO |
|
OMIM:236670 OMIM:613150 ORPHA:899 |
NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
|
|
G |
PORCN |
porcupine O-acyltransferase |
|
IAGP |
|
HPO |
|
OMIM:305600 |
NCBI chr X:48,508,992...48,520,814
Ensembl chr X:48,508,959...48,520,814
|
|
G |
PPP3CA |
protein phosphatase 3 catalytic subunit alpha |
|
IAGP |
|
HPO |
|
OMIM:618265 |
NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278
|
|
G |
PQBP1 |
polyglutamine binding protein 1 |
|
IAGP |
|
HPO |
|
OMIM:309500 ORPHA:93946 |
NCBI chr X:48,897,930...48,903,143
Ensembl chr X:48,890,197...48,903,402
|
|
G |
PRDM5 |
PR/SET domain 5 |
|
IAGP |
|
HPO |
|
ORPHA:90354 |
NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,922,870
|
|
G |
PROK2 |
prokineticin 2 |
|
IAGP |
|
HPO |
|
ORPHA:432 ORPHA:478 |
NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206
|
|
G |
PROKR2 |
prokineticin receptor 2 |
|
IAGP |
|
HPO |
|
OMIM:244200 ORPHA:3157 ORPHA:432 ORPHA:478 |
NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954
|
|
G |
PRRX1 |
paired related homeobox 1 |
|
IAGP |
|
HPO |
|
OMIM:202650 |
NCBI chr 1:170,662,768...170,739,421
Ensembl chr 1:170,662,728...170,739,421
|
|
G |
PSAT1 |
phosphoserine aminotransferase 1 |
|
IAGP |
|
HPO |
|
OMIM:616038 |
NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,125...78,330,093
|
|
G |
PTCH1 |
patched 1 |
|
IAGP |
|
HPO |
|
OMIM:109400 OMIM:610828 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
|
|
G |
PTDSS1 |
phosphatidylserine synthase 1 |
|
IAGP |
|
HPO |
|
OMIM:151050 ORPHA:2658 |
NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
|
|
G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
|
IAGP |
|
HPO |
|
OMIM:151100 OMIM:163950 |
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
|
|
G |
PUF60 |
poly(U) binding splicing factor 60 |
|
IAGP |
|
HPO |
|
OMIM:615583 |
NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
|
|
G |
RAD21 |
RAD21 cohesin complex component |
|
IAGP |
|
HPO |
|
OMIM:614701 ORPHA:199 |
NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
|
|
G |
RAD51 |
RAD51 recombinase |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
|
|
G |
RAD51C |
RAD51 paralog C |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
|
|
G |
RAI1 |
retinoic acid induced 1 |
|
IAGP |
|
HPO |
|
ORPHA:819 |
NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
|
|
G |
RAPSN |
receptor associated protein of the synapse |
|
IAGP |
|
HPO |
|
OMIM:618388 ORPHA:994 |
NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143
|
|
G |
RARB |
retinoic acid receptor beta |
|
IAGP |
|
HPO |
|
OMIM:615524 |
NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932
|
|
G |
RB1 |
RB transcriptional corepressor 1 |
|
IAGP |
|
HPO |
|
OMIM:180200 |
NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
|
|
G |
RBM10 |
RNA binding motif protein 10 |
|
IAGP |
|
HPO |
|
OMIM:311900 ORPHA:2886 |
NCBI chr X:47,145,221...47,186,813
Ensembl chr X:47,145,221...47,186,813
|
|
G |
RBM8A |
RNA binding motif protein 8A |
|
IAGP |
|
HPO |
|
OMIM:274000 ORPHA:3320 |
NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678
|
|
G |
RECQL4 |
RecQ like helicase 4 |
|
IAGP |
|
HPO |
|
OMIM:218600 OMIM:266280 ORPHA:1225 ORPHA:221016 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
|
|
G |
RET |
ret proto-oncogene |
|
IAGP |
|
HPO |
|
ORPHA:1848 |
NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
|
|
G |
REV3L |
REV3 like, DNA directed polymerase zeta catalytic subunit |
|
IAGP |
|
HPO |
|
ORPHA:570 |
NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715
|
|
G |
RFWD3 |
ring finger and WD repeat domain 3 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
|
|
G |
RIC1 |
RIC1 homolog, RAB6A GEF complex partner 1 |
|
IAGP |
|
HPO |
|
OMIM:618761 ORPHA:199306 |
NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557
|
|
G |
RIPK4 |
receptor interacting serine/threonine kinase 4 |
|
IAGP |
|
HPO |
|
OMIM:263650 ORPHA:1234 ORPHA:1401 |
NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
|
|
G |
RIPPLY2 |
ripply transcriptional repressor 2 |
|
IAGP |
|
HPO |
|
ORPHA:2311 |
NCBI chr 6:83,853,229...83,857,515
Ensembl chr 6:83,853,360...83,857,515
|
|
G |
RNU12 |
RNA, U12 small nuclear |
|
IAGP |
|
HPO |
|
OMIM:603116 ORPHA:85199 |
NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393
|
|
G |
RNU4ATAC |
RNA, U4atac small nuclear |
|
IAGP |
|
HPO |
|
ORPHA:2636 |
NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
|
|
G |
RPGRIP1 |
RPGR interacting protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301
|
|
G |
RPGRIP1L |
RPGRIP1 like |
|
IAGP |
associated with Meckel Syndrome, Type 5;DNA:mutations:exons: |
HPO RGD |
PMID:17558409 |
OMIM:611561 ORPHA:220497 ORPHA:564, RGD:11073359 |
NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
|
|
G |
RPL11 |
ribosomal protein L11 |
|
IAGP |
|
HPO |
|
OMIM:612562 |
NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835
|
|
G |
RPL5 |
ribosomal protein L5 |
|
IAGP |
|
HPO |
|
OMIM:612561 |
NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924
|
|
G |
RPS19 |
ribosomal protein S19 |
|
IAGP |
|
HPO |
|
OMIM:105650 |
NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925
|
|
G |
RPS26 |
ribosomal protein S26 |
|
IAGP |
|
HPO |
|
OMIM:613309 |
NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697
|
|
G |
RPS28 |
ribosomal protein S28 |
|
IAGP |
|
HPO |
|
OMIM:606164 |
NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340
|
|
G |
RREB1 |
ras responsive element binding protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:567 |
NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
|
|
G |
RSPO2 |
R-spondin 2 |
|
IAGP |
|
HPO |
|
OMIM:618021 |
NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642
|
|
G |
RTL1 |
retrotransposon Gag like 1 |
|
IAGP |
|
HPO |
|
ORPHA:96184 |
NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
|
|
G |
RUNX2 |
RUNX family transcription factor 2 |
|
IAGP |
|
HPO |
|
OMIM:119600 ORPHA:1452 |
NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
|
|
G |
RXYLT1 |
ribitol xylosyltransferase 1 |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr12:63,779,909...63,809,562
Ensembl chr12:63,779,833...63,809,792
|
|
G |
SALL4 |
spalt like transcription factor 4 |
|
IAGP |
|
HPO |
|
ORPHA:233 |
NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
|
|
G |
SATB2 |
SATB homeobox 2 |
|
IAGP |
ClinVar Annotator: match by term: Cleft palate |
ClinVar HPO |
PMID:17377962 PMID:23925499 PMID:24301056 PMID:25741868 PMID:25885067 PMID:28492532 PMID:29023086 More...
|
OMIM:612313 ORPHA:251019 ORPHA:251028 ORPHA:576283 |
NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
|
|
G |
SCARF2 |
scavenger receptor class F member 2 |
|
IAGP |
|
HPO |
|
OMIM:600920 |
NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826
|
|
G |
SCN1B |
sodium voltage-gated channel beta subunit 1 |
|
IAGP |
|
HPO |
|
ORPHA:1934 |
NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
|
|
G |
SCN2A |
sodium voltage-gated channel alpha subunit 2 |
|
IAGP |
|
HPO |
|
ORPHA:1934 |
NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
|
|
G |
SCUBE3 |
signal peptide, CUB domain and EGF like domain containing 3 |
|
IAGP |
|
HPO |
|
OMIM:619184 |
NCBI chr 6:35,213,956...35,253,079
Ensembl chr 6:35,213,956...35,253,079
|
|
G |
SEC23A |
SEC23 homolog A, COPII coat complex component |
|
IAGP |
|
HPO |
|
OMIM:607812 |
NCBI chr14:39,031,919...39,103,235
Ensembl chr14:39,031,919...39,109,646
|
|
G |
SEC24C |
SEC24 homolog C, COPII coat complex component |
|
IAGP |
|
HPO |
|
ORPHA:567 |
NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161
|
|
G |
SELENOI |
selenoprotein I |
|
IAGP |
|
HPO |
|
OMIM:618768 ORPHA:506353 |
NCBI chr 2:26,346,143...26,395,885
Ensembl chr 2:26,308,547...26,395,885
|
|
G |
SEMA3A |
semaphorin 3A |
|
IAGP |
|
HPO |
|
ORPHA:478 |
NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724
|
|
G |
SEMA3E |
semaphorin 3E |
|
IAGP |
|
HPO |
|
ORPHA:138 |
NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139
|
|
G |
SEPTIN9 |
septin 9 |
|
IAGP |
|
HPO |
|
OMIM:162100 ORPHA:2901 |
NCBI chr17:77,281,499...77,500,596
Ensembl chr17:77,280,569...77,500,596
|
|
G |
SETD5 |
SET domain containing 5 |
|
IAGP |
|
HPO |
|
ORPHA:404440 |
NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240
|
|
G |
SF3B2 |
splicing factor 3b subunit 2 |
|
IAGP |
|
HPO |
|
OMIM:164210 |
NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308
|
|
G |
SF3B4 |
splicing factor 3b subunit 4 |
|
IAGP |
|
HPO |
|
OMIM:154400 ORPHA:245 |
NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803
|
|
G |
SH2B1 |
SH2B adaptor protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:261197 |
NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212
|
|
G |
SHH |
sonic hedgehog signaling molecule |
|
IAGP |
|
HPO |
|
OMIM:142945 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
|
|
G |
SIK1 |
salt inducible kinase 1 |
|
IAGP |
|
HPO |
|
ORPHA:1934 |
NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131
|
|
G |
SIX1 |
SIX homeobox 1 |
|
IAGP |
|
HPO |
|
OMIM:113650 ORPHA:107 ORPHA:52429 |
NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259
|
|
G |
SIX3 |
SIX homeobox 3 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
|
|
G |
SIX5 |
SIX homeobox 5 |
|
IAGP |
|
HPO |
|
ORPHA:107 |
NCBI chr19:45,764,785...45,769,252
Ensembl chr19:45,764,785...45,769,252
|
|
G |
SLC10A7 |
solute carrier family 10 member 7 |
|
IAGP |
|
HPO |
|
OMIM:618363 |
NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372
|
|
G |
SLC18A3 |
solute carrier family 18 member A3 |
|
IAGP |
|
HPO |
|
ORPHA:994 |
NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720
|
|
G |
SLC25A22 |
solute carrier family 25 member 22 |
|
IAGP |
|
HPO |
|
ORPHA:1934 |
NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281
|
|
G |
SLC26A2 |
solute carrier family 26 member 2 |
|
IAGP |
|
HPO |
|
OMIM:222600 OMIM:256050 ORPHA:56304 ORPHA:628 ORPHA:93307 |
NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
|
|
G |
SLC32A1 |
solute carrier family 32 member 1 |
|
IAGP |
|
HPO |
|
ORPHA:1934 |
NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372
|
|
G |
SLC35B2 |
solute carrier family 35 member B2 |
|
IAGP |
|
HPO |
|
OMIM:620269 |
NCBI chr 6:44,254,101...44,257,890
Ensembl chr 6:44,254,096...44,257,890
|
|
G |
SLC35D1 |
solute carrier family 35 member D1 |
|
IAGP |
|
HPO |
|
OMIM:269250 ORPHA:3144 |
NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,148
|
|
G |
SLX4 |
SLX4 structure-specific endonuclease subunit |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
|
|
G |
SMAD3 |
SMAD family member 3 |
|
IAGP |
|
HPO |
|
OMIM:613795 ORPHA:284984 |
NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
|
|
G |
SMAD4 |
SMAD family member 4 |
|
IAGP |
|
HPO |
|
OMIM:139210 ORPHA:2588 |
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
|
|
G |
SMARCA4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
|
IAGP |
ClinVar Annotator: match by term: Cleft hard and soft palate |
ClinVar HPO |
PMID:22426308 PMID:25741868 PMID:28973083 |
OMIM:614609 |
NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
|
|
G |
SMARCB1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
|
IAGP |
|
HPO |
|
OMIM:614608 |
NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
|
|
G |
SMC1A |
structural maintenance of chromosomes 1A |
|
IAGP |
|
HPO |
|
OMIM:301044 ORPHA:199 ORPHA:220386 |
NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728
|
|
G |
SMC3 |
structural maintenance of chromosomes 3 |
|
IAGP |
|
HPO |
|
OMIM:610759 ORPHA:199 |
NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048
|
|
G |
SMCHD1 |
structural maintenance of chromosomes flexible hinge domain containing 1 |
|
IAGP |
|
HPO |
|
OMIM:603457 ORPHA:2250 |
NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017
|
|
G |
SMO |
smoothened, frizzled class receptor |
|
IAGP |
|
HPO |
|
OMIM:241800 |
NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
|
|
G |
SMOC1 |
SPARC related modular calcium binding 1 |
|
IAGP |
|
HPO |
|
OMIM:206920 ORPHA:1106 |
NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366
|
|
G |
SMS |
spermine synthase |
|
IAGP |
|
HPO |
|
OMIM:309583 ORPHA:3063 |
NCBI chr X:21,940,709...21,994,837
Ensembl chr X:21,940,709...21,994,837
|
|
G |
SNRPB |
small nuclear ribonucleoprotein polypeptides B and B1 |
|
IAGP |
|
HPO |
|
OMIM:117650 ORPHA:1393 |
NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
|
|
G |
SNRPN |
small nuclear ribonucleoprotein polypeptide N |
|
IAGP |
|
HPO |
|
ORPHA:177907 |
NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
|
|
G |
SON |
SON DNA and RNA binding protein |
|
IAGP |
|
HPO |
|
ORPHA:500150 |
NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
|
|
G |
SOX10 |
SRY-box transcription factor 10 |
|
IAGP |
|
HPO |
|
ORPHA:478 |
NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
|
|
G |
SOX2 |
SRY-box transcription factor 2 |
|
IAGP |
|
HPO |
|
ORPHA:3157 |
NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
|
|
G |
SOX3 |
SRY-box transcription factor 3 |
|
IAGP |
ClinVar Annotator: match by term: Cleft of palate |
ClinVar HPO |
PMID:23757202 PMID:25741868 PMID:28492532 |
ORPHA:3157 |
NCBI chr X:140,502,985...140,505,069
Ensembl chr X:140,502,985...140,505,069
|
|
G |
SOX9 |
SRY-box transcription factor 9 |
|
IAGP |
|
HPO |
|
OMIM:114290 ORPHA:140 ORPHA:718 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
|
|
G |
SPECC1L |
sperm antigen with calponin homology and coiled-coil domains 1 like |
|
IAGP |
|
HPO |
|
OMIM:600251 |
NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739
|
|
G |
SPINT2 |
serine peptidase inhibitor, Kunitz type 2 |
|
IAGP |
|
HPO |
|
OMIM:270420 |
NCBI chr19:38,264,573...38,292,615
Ensembl chr19:38,244,035...38,292,615
|
|
G |
SPRY4 |
sprouty RTK signaling antagonist 4 |
|
IAGP |
|
HPO |
|
ORPHA:432 ORPHA:478 |
NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455
|
|
G |
STAC3 |
SH3 and cysteine rich domain 3 |
|
IAGP |
|
HPO |
|
OMIM:255995 ORPHA:168572 |
NCBI chr12:57,243,458...57,251,187
Ensembl chr12:57,243,453...57,251,188
|
|
G |
STAG2 |
STAG2 cohesin complex component |
|
IAGP |
|
HPO |
|
OMIM:301022 OMIM:301043 ORPHA:220386 ORPHA:93925 |
NCBI chr X:123,960,560...124,102,656
Ensembl chr X:123,960,212...124,422,664
|
|
G |
STAMBP |
STAM binding protein |
|
IAGP |
|
HPO |
|
OMIM:614261 |
NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659
|
|
G |
STAT3 |
signal transducer and activator of transcription 3 |
|
IAGP |
|
HPO |
|
ORPHA:2314 |
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
|
|
G |
STIL |
STIL centriolar assembly protein |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892
|
|
G |
SUFU |
SUFU negative regulator of hedgehog signaling |
|
IAGP |
|
HPO |
|
ORPHA:280200 |
NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
|
|
G |
TAC3 |
tachykinin precursor 3 |
|
IAGP |
|
HPO |
|
ORPHA:432 |
NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883
|
|
G |
TACR3 |
tachykinin receptor 3 |
|
IAGP |
|
HPO |
|
ORPHA:432 ORPHA:478 |
NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985
|
|
G |
TAPT1 |
transmembrane anterior posterior transformation 1 |
|
IAGP |
|
HPO |
|
OMIM:616897 |
NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410
|
|
G |
TBC1D24 |
TBC1 domain family member 24 |
|
IAGP |
|
HPO |
|
OMIM:220500 ORPHA:79500 |
NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560
|
|
G |
TBR1 |
T-box brain transcription factor 1 |
|
IAGP |
|
HPO |
|
ORPHA:1617 |
NCBI chr 2:161,416,297...161,425,870
Ensembl chr 2:161,416,297...161,425,870
|
|
G |
TBX1 |
T-box transcription factor 1 |
|
IAGP |
|
HPO |
|
OMIM:188400 OMIM:192430 ORPHA:1727 ORPHA:567 |
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
|
|
G |
TBX15 |
T-box transcription factor 15 |
|
IAGP |
|
HPO |
|
OMIM:260660 |
NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556
|
|
G |
TBX2 |
T-box transcription factor 2 |
|
IAGP |
|
HPO |
|
OMIM:618223 |
NCBI chr17:61,399,843...61,409,466
Ensembl chr17:61,399,843...61,409,466
|
|
G |
TBX22 |
T-box transcription factor 22 |
|
IAGP |
|
HPO |
|
OMIM:302905 OMIM:303400 ORPHA:921 |
NCBI chr X:80,014,753...80,031,774
Ensembl chr X:80,014,753...80,031,774
|
|
G |
TBX4 |
T-box transcription factor 4 |
|
IAGP |
|
HPO |
|
OMIM:147891 |
NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110
|
|
G |
TBX6 |
T-box transcription factor 6 |
|
IAGP |
|
HPO |
|
ORPHA:1797 |
NCBI chr16:30,085,793...30,091,924
Ensembl chr16:30,085,793...30,091,924
|
|
G |
TCOF1 |
treacle ribosome biogenesis factor 1 |
|
IAGP |
|
HPO |
|
OMIM:154500 ORPHA:861 |
NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308
|
|
G |
TCTN1 |
tectonic family member 1 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431
|
|
G |
TCTN2 |
tectonic family member 2 |
|
IAGP |
|
HPO |
|
OMIM:613885 ORPHA:564 |
NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399
|
|
G |
TCTN3 |
tectonic family member 3 |
|
IAGP |
|
HPO |
|
OMIM:258860 OMIM:614815 ORPHA:2753 ORPHA:2754 ORPHA:564 |
NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
|
|
G |
TELO2 |
telomere maintenance 2 |
|
IAGP |
|
HPO |
|
OMIM:616954 ORPHA:488642 |
NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457
|
|
G |
TFAP2A |
transcription factor AP-2 alpha |
|
IAGP |
|
HPO |
|
OMIM:113620 |
NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
|
|
G |
TFE3 |
transcription factor binding to IGHM enhancer 3 |
|
IAGP |
|
HPO |
|
OMIM:301066 |
NCBI chr X:49,028,726...49,043,357
Ensembl chr X:49,028,726...49,043,410
|
|
G |
TGDS |
TDP-glucose 4,6-dehydratase |
|
IAGP |
|
HPO |
|
OMIM:616145 ORPHA:1388 |
NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242
|
|
G |
TGFB3 |
transforming growth factor beta 3 |
|
IAGP |
|
HPO |
|
OMIM:615582 |
NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
|
|
G |
TGFBR1 |
transforming growth factor beta receptor 1 |
|
IAGP |
|
HPO |
|
OMIM:609192 |
NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192
|
|
G |
TGFBR2 |
transforming growth factor beta receptor 2 |
|
IAGP |
|
HPO |
|
OMIM:610168 |
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142
|
|
G |
TGIF1 |
TGFB induced factor homeobox 1 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
|
|
G |
TMCO1 |
transmembrane and coiled-coil domains 1 |
|
IAGP |
ClinVar Annotator: match by term: Cleft palate |
ClinVar HPO |
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 |
OMIM:213980 ORPHA:1394 |
NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
|
|
G |
TMEM107 |
transmembrane protein 107 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399
|
|
G |
TMEM216 |
transmembrane protein 216 |
|
IAGP |
|
HPO |
|
OMIM:603194 ORPHA:2754 ORPHA:564 |
NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
|
|
G |
TMEM231 |
transmembrane protein 231 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
|
|
G |
TMEM237 |
transmembrane protein 237 |
|
IAGP |
|
HPO |
|
OMIM:614424 ORPHA:220497 ORPHA:564 |
NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
|
|
G |
TMEM67 |
transmembrane protein 67 |
|
IAGP |
|
HPO |
|
OMIM:607361 ORPHA:564 |
NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
|
|
G |
TNFRSF13B |
TNF receptor superfamily member 13B |
|
IAGP |
ClinVar Annotator: match by term: Cleft palate |
ClinVar |
PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17492055 PMID:17983875 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19629655 PMID:19779048 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23237420 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25741868 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30665703 PMID:30723478 PMID:31203817 PMID:31618753 PMID:31681265 PMID:32499645 PMID:32581362 PMID:33258288 More...
|
|
NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
|
|
G |
TOPORS |
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586
|
|
G |
TP63 |
tumor protein p63 |
|
IAGP |
|
HPO |
|
OMIM:106260 OMIM:129400 OMIM:603543 OMIM:604292 ORPHA:1072 ORPHA:1896 ORPHA:199306 ORPHA:69085 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
|
|
G |
TRAPPC2 |
trafficking protein particle complex subunit 2 |
|
IAGP |
|
HPO |
|
ORPHA:93284 |
NCBI chr X:13,712,245...13,734,620
Ensembl chr X:13,712,244...13,734,635
|
|
G |
TRIM8 |
tripartite motif containing 8 |
|
IAGP |
|
HPO |
|
ORPHA:1934 |
NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,658,318
|
|
G |
TRIP13 |
thyroid hormone receptor interactor 13 |
|
IAGP |
|
HPO |
|
OMIM:617598 ORPHA:1052 |
NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357
|
|
G |
TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
|
IAGP |
|
HPO |
|
ORPHA:2635 |
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
|
|
G |
TRRAP |
transformation/transcription domain associated protein |
|
IAGP |
|
HPO |
|
OMIM:618454 |
NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831
|
|
G |
TSR2 |
TSR2 ribosome maturation factor |
|
IAGP |
|
HPO |
|
OMIM:300946 |
NCBI chr X:54,440,404...54,448,032
Ensembl chr X:54,440,404...54,448,032
|
|
G |
TUBA1A |
tubulin alpha 1a |
|
IAGP |
|
HPO |
|
ORPHA:994 |
NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,080
|
|
G |
TUBB |
tubulin beta class I |
|
IAGP |
|
HPO |
|
OMIM:156610 ORPHA:2505 |
NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538
|
|
G |
TWIST1 |
twist family bHLH transcription factor 1 |
|
IAGP |
|
HPO |
|
OMIM:101400 ORPHA:794 |
NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
|
|
G |
TXNDC15 |
thioredoxin domain containing 15 |
|
IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635
|
|
G |
TXNL4A |
thioredoxin like 4A |
|
IAGP |
|
HPO |
|
OMIM:608572 |
NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949
|
|
G |
UBE2T |
ubiquitin conjugating enzyme E2 T |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984
|
|
G |
UFD1 |
ubiquitin recognition factor in ER associated degradation 1 |
|
IAGP |
|
HPO |
|
ORPHA:567 |
NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
|
|
G |
USP9X |
ubiquitin specific peptidase 9 X-linked |
|
IAGP |
|
HPO |
|
OMIM:300968 ORPHA:480880 |
NCBI chr X:41,085,445...41,236,579
Ensembl chr X:41,085,445...41,236,579
|
|
G |
VANGL1 |
VANGL planar cell polarity protein 1 |
|
IAGP |
ClinVar Annotator: match by term: Cleft of palate |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224
|
|
G |
VAX1 |
ventral anterior homeobox 1 |
|
IAGP |
|
HPO |
|
OMIM:614402 |
NCBI chr10:117,128,520...117,138,270
Ensembl chr10:117,128,521...117,138,301
|
|
G |
VPS35L |
VPS35 endosomal protein sorting factor like |
|
IAGP |
|
HPO |
|
ORPHA:7 |
NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793
|
|
G |
WASHC5 |
WASH complex subunit 5 |
|
IAGP |
|
HPO |
|
OMIM:220210 ORPHA:7 |
NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
|
|
G |
WDR11 |
WD repeat domain 11 |
|
IAGP |
|
HPO |
|
ORPHA:432 ORPHA:478 |
NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524
|
|
G |
WDR26 |
WD repeat domain 26 |
|
IAGP |
|
HPO |
|
OMIM:617616 ORPHA:513456 |
NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033
|
|
G |
WDR35 |
WD repeat domain 35 |
|
IAGP |
|
HPO |
|
OMIM:613610 OMIM:614091 |
NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
|
|
G |
WFS1 |
wolframin ER transmembrane glycoprotein |
|
IAGP |
ClinVar Annotator: match by term: Cleft hard and soft palate |
ClinVar |
PMID:10521293 PMID:17568405 PMID:18700423 PMID:20888932 PMID:25741868 PMID:28432734 PMID:28492532 More...
|
|
NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
|
|
G |
WNT3 |
Wnt family member 3 |
|
IAGP |
|
HPO |
|
OMIM:273395 |
NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154
|
|
G |
WNT4 |
Wnt family member 4 |
|
IAGP |
|
HPO |
|
OMIM:611812 ORPHA:247768 |
NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969
|
|
G |
WNT7A |
Wnt family member 7A |
|
IAGP |
|
HPO |
|
ORPHA:2879 |
NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
|
|
G |
WNT9B |
Wnt family member 9B |
|
IAGP |
|
HPO |
|
ORPHA:1848 |
NCBI chr17:46,833,189...46,886,738
Ensembl chr17:46,833,201...46,886,730
|
|
G |
XRCC2 |
X-ray repair cross complementing 2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
|
|
G |
XYLT1 |
xylosyltransferase 1 |
|
IAGP |
|
HPO |
|
OMIM:615777 ORPHA:370930 |
NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
|
|
G |
YAP1 |
Yes1 associated transcriptional regulator |
|
IAGP |
|
HPO |
|
OMIM:120433 |
NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424
|
|
G |
ZC4H2 |
zinc finger C4H2-type containing |
|
IAGP |
|
HPO |
|
OMIM:301041 |
NCBI chr X:64,915,807...65,034,741
Ensembl chr X:64,915,802...65,034,713
|
|
G |
ZEB2 |
zinc finger E-box binding homeobox 2 |
|
IAGP |
|
HPO |
|
OMIM:235730 ORPHA:261537 ORPHA:261552 |
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
|
|
G |
ZIC2 |
Zic family member 2 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
|
|
G |
ZNF469 |
zinc finger protein 469 |
|
IAGP |
|
HPO |
|
ORPHA:90354 |
NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757
|
|
G |
ZSWIM6 |
zinc finger SWIM-type containing 6 |
|
IAGP |
|
HPO |
|
OMIM:603671 |
NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172
|
|
|
G |
ADA2 |
adenosine deaminase 2 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
|
|
G |
BUB1 |
BUB1 mitotic checkpoint serine/threonine kinase |
|
IAGP |
|
HPO |
|
OMIM:620183 |
NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063
|
|
G |
COL2A1 |
collagen type II alpha 1 chain |
|
IAGP |
|
HPO |
|
ORPHA:93316 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
|
|
G |
DDX59 |
DEAD-box helicase 59 |
|
IAGP |
|
HPO |
|
ORPHA:2919 |
NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907
|
|
G |
DVL1 |
dishevelled segment polarity protein 1 |
|
IAGP |
|
HPO |
|
OMIM:616331 |
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
|
|
G |
DYRK1A |
dual specificity tyrosine phosphorylation regulated kinase 1A |
|
IAGP |
|
HPO |
|
ORPHA:268261 |
NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
|
|
G |
FKBP14 |
FKBP prolyl isomerase 14 |
|
IAGP |
|
HPO |
|
OMIM:614557 |
NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702
|
|
G |
GATA1 |
GATA binding protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr X:48,786,590...48,794,311
Ensembl chr X:48,786,540...48,794,311
|
|
G |
GNB2 |
G protein subunit beta 2 |
|
IAGP |
|
HPO |
|
OMIM:619503 |
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
|
|
G |
GRHL3 |
grainyhead like transcription factor 3 |
|
IAGP |
|
HPO |
|
ORPHA:99772 |
NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482
|
|
G |
H4C5 |
H4 clustered histone 5 |
|
IAGP |
|
HPO |
|
OMIM:619950 |
NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021
|
|
G |
HEATR3 |
HEAT repeat containing 3 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272
|
|
G |
IPO8 |
importin 8 |
|
IAGP |
|
HPO |
|
OMIM:619472 |
NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
|
|
G |
MED12 |
mediator complex subunit 12 |
|
IAGP |
|
HPO |
|
OMIM:301068 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
|
|
G |
MSX2 |
msh homeobox 2 |
|
IAGP |
|
HPO |
|
OMIM:604757 |
NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896
|
|
G |
NXN |
nucleoredoxin |
|
IAGP |
|
HPO |
|
OMIM:618529 |
NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
|
|
G |
PLOD2 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 |
|
IAGP |
ClinVar Annotator: match by term: Cleft soft palate |
ClinVar |
PMID:22689593 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29177700 PMID:29178448 More...
|
|
NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725
|
|
G |
RPL11 |
ribosomal protein L11 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835
|
|
G |
RPL15 |
ribosomal protein L15 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374
|
|
G |
RPL18 |
ribosomal protein L18 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184
|
|
G |
RPL26 |
ribosomal protein L26 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213
|
|
G |
RPL27 |
ribosomal protein L27 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959
|
|
G |
RPL31 |
ribosomal protein L31 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032
|
|
G |
RPL35 |
ribosomal protein L35 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981
|
|
G |
RPL35A |
ribosomal protein L35a |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610
|
|
G |
RPL5 |
ribosomal protein L5 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924
|
|
G |
RPL8 |
ribosomal protein L8 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 8:144,789,769...144,792,390
Ensembl chr 8:144,789,765...144,792,587
|
|
G |
RPL9 |
ribosomal protein L9 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931
|
|
G |
RPS10 |
ribosomal protein S10 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069
|
|
G |
RPS15A |
ribosomal protein S15a |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383
|
|
G |
RPS17 |
ribosomal protein S17 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459
|
|
G |
RPS19 |
ribosomal protein S19 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925
|
|
G |
RPS20 |
ribosomal protein S20 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510
|
|
G |
RPS24 |
ribosomal protein S24 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813
|
|
G |
RPS26 |
ribosomal protein S26 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697
|
|
G |
RPS27 |
ribosomal protein S27 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155
|
|
G |
RPS28 |
ribosomal protein S28 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340
|
|
G |
RPS29 |
ribosomal protein S29 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164
|
|
G |
RPS7 |
ribosomal protein S7 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920
|
|
G |
SCNM1 |
sodium channel modifier 1 |
|
IAGP |
|
HPO |
|
OMIM:620107 |
NCBI chr 1:151,166,144...151,170,296
Ensembl chr 1:151,156,664...151,170,296
|
|
G |
SLC25A19 |
solute carrier family 25 member 19 |
|
IAGP |
|
HPO |
|
ORPHA:99742 |
NCBI chr17:75,272,992...75,289,433
Ensembl chr17:75,272,981...75,289,510
|
|
G |
SMARCD1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 |
|
IAGP |
|
HPO |
|
OMIM:618779 |
NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707
|
|
G |
SNRPB |
small nuclear ribonucleoprotein polypeptides B and B1 |
|
IAGP |
|
HPO |
|
OMIM:117650 |
NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
|
|
G |
TCOF1 |
treacle ribosome biogenesis factor 1 |
|
IAGP |
|
HPO |
|
OMIM:154500 |
NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308
|
|
G |
TGFB3 |
transforming growth factor beta 3 |
|
IAGP |
|
HPO |
|
OMIM:615582 |
NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
|
|
G |
TSR2 |
TSR2 ribosome maturation factor |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr X:54,440,404...54,448,032
Ensembl chr X:54,440,404...54,448,032
|
|
G |
UBB |
ubiquitin B |
|
IAGP |
|
HPO |
|
ORPHA:99772 |
NCBI chr17:16,380,779...16,382,745
Ensembl chr17:16,380,798...16,382,745
|
|
G |
ZPR1 |
ZPR1 zinc finger |
|
IAGP |
|
HPO |
|
OMIM:619321 |
NCBI chr11:116,773,799...116,788,023
Ensembl chr11:116,773,799...116,788,039
|
|
|
G |
AASS |
aminoadipate-semialdehyde synthase |
|
IAGP |
|
HPO |
|
ORPHA:2203 |
NCBI chr 7:122,073,549...122,144,249
Ensembl chr 7:122,064,583...122,144,308
|
|
G |
ABCC6 |
ATP binding cassette subfamily C member 6 |
|
IAGP |
|
HPO |
|
OMIM:177850 ORPHA:758 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
|
|
G |
ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
|
IAGP |
|
HPO |
|
OMIM:617602 |
NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
|
|
G |
ACTA1 |
actin alpha 1, skeletal muscle |
|
IAGP |
|
HPO |
|
OMIM:161800 OMIM:620278 ORPHA:171436 ORPHA:171439 ORPHA:2020 |
NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
|
|
G |
ACTN2 |
actinin alpha 2 |
|
IAGP |
|
HPO |
|
OMIM:618654 |
NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631
|
|
G |
ADA2 |
adenosine deaminase 2 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
|
|
G |
ADAM22 |
ADAM metallopeptidase domain 22 |
|
IAGP |
|
HPO |
|
OMIM:617933 |
NCBI chr 7:87,934,251...88,202,889
Ensembl chr 7:87,934,143...88,202,889
|
|
G |
ADARB1 |
adenosine deaminase RNA specific B1 |
|
IAGP |
|
HPO |
|
OMIM:618862 |
NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560
|
|
G |
ADAT3 |
adenosine deaminase tRNA specific 3 |
|
IAGP |
|
HPO |
|
ORPHA:363528 |
NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447
|
|
G |
AEBP1 |
AE binding protein 1 |
|
IAGP |
|
HPO |
|
OMIM:618000 ORPHA:536532 |
NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562
|
|
G |
AFF4 |
ALF transcription elongation factor 4 |
|
IAGP |
|
HPO |
|
ORPHA:444077 |
NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
|
|
G |
AFG2B |
AFG2 AAA ATPase homolog B |
|
IAGP |
|
HPO |
|
OMIM:619616 |
NCBI chr15:45,402,336...45,421,415
Ensembl chr15:45,402,336...45,421,415
|
|
G |
AGRN |
agrin |
|
IAGP |
|
HPO |
|
OMIM:615120 ORPHA:98913 ORPHA:98914 |
NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118
|
|
G |
AIFM1 |
apoptosis inducing factor mitochondria associated 1 |
|
IAGP |
|
HPO |
|
OMIM:300232 |
NCBI chr X:130,129,362...130,165,841
Ensembl chr X:130,124,666...130,165,879
|
|
G |
AK9 |
adenylate kinase 9 |
|
IAGP |
|
HPO |
|
ORPHA:98913 |
NCBI chr 6:109,492,855...109,691,202
Ensembl chr 6:109,492,855...109,691,217
|
|
G |
AKT1 |
AKT serine/threonine kinase 1 |
|
IAGP |
|
HPO |
|
OMIM:615109 ORPHA:201 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
|
|
G |
ALDH6A1 |
aldehyde dehydrogenase 6 family member A1 |
|
IAGP |
|
HPO |
|
OMIM:614105 |
NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492
|
|
G |
ALG14 |
ALG14 UDP-N-acetylglucosaminyltransferase subunit |
|
IAGP |
|
HPO |
|
ORPHA:353327 |
NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951
|
|
G |
ALG2 |
ALG2 alpha-1,3/1,6-mannosyltransferase |
|
IAGP |
|
HPO |
|
OMIM:607906 OMIM:616228 ORPHA:353327 |
NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942
|
|
G |
ALG3 |
ALG3 alpha-1,3- mannosyltransferase |
|
IAGP |
|
HPO |
|
OMIM:601110 ORPHA:79321 |
NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548
|
|
G |
AMER1 |
APC membrane recruitment protein 1 |
|
IAGP |
|
HPO |
|
OMIM:300373 |
NCBI chr X:64,185,117...64,205,708
Ensembl chr X:64,185,117...64,205,708
|
|
G |
ANAPC7 |
anaphase promoting complex subunit 7 |
|
IAGP |
|
HPO |
|
OMIM:619699 |
NCBI chr12:110,372,900...110,403,708
Ensembl chr12:110,372,900...110,403,730
|
|
G |
ANK1 |
ankyrin 1 |
|
IAGP |
|
HPO |
|
ORPHA:251066 |
NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741
|
|
G |
ANKRD11 |
ankyrin repeat domain containing 11 |
|
IAGP |
|
HPO |
|
ORPHA:261250 |
NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,630...89,490,561
|
|
G |
ANO1 |
anoctamin 1 |
|
IAGP |
|
HPO |
|
OMIM:620045 |
NCBI chr11:69,965,997...70,189,530
Ensembl chr11:69,985,907...70,189,530
|
|
G |
ANOS1 |
anosmin 1 |
|
IAGP |
|
HPO |
|
OMIM:308700 |
NCBI chr X:8,528,874...8,732,137
Ensembl chr X:8,528,874...8,732,137
|
|
G |
AP1G1 |
adaptor related protein complex 1 subunit gamma 1 |
|
IAGP |
|
HPO |
|
OMIM:619548 |
NCBI chr16:71,729,000...71,808,834
Ensembl chr16:71,729,000...71,809,201
|
|
G |
AP1S2 |
adaptor related protein complex 1 subunit sigma 2 |
|
IAGP |
|
HPO |
|
ORPHA:85335 |
NCBI chr X:15,825,806...15,854,813
Ensembl chr X:15,825,806...15,854,931
|
|
G |
AP4B1 |
adaptor related protein complex 4 subunit beta 1 |
|
IAGP |
|
HPO |
|
OMIM:614066 ORPHA:280763 |
NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,712
|
|
G |
AP4E1 |
adaptor related protein complex 4 subunit epsilon 1 |
|
IAGP |
|
HPO |
|
ORPHA:280763 |
NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895
|
|
G |
AP4M1 |
adaptor related protein complex 4 subunit mu 1 |
|
IAGP |
|
HPO |
|
OMIM:612936 ORPHA:280763 |
NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,898...100,110,345
|
|
G |
AP4S1 |
adaptor related protein complex 4 subunit sigma 1 |
|
IAGP |
|
HPO |
|
OMIM:614067 ORPHA:280763 |
NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996
|
|
G |
APC |
APC regulator of WNT signaling pathway |
|
IAGP |
|
HPO |
|
ORPHA:261584 |
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
|
|
G |
ARCN1 |
archain 1 |
|
IAGP |
|
HPO |
|
OMIM:617164 |
NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033
|
|
G |
ARHGEF2 |
Rho/Rac guanine nucleotide exchange factor 2 |
|
IAGP |
|
HPO |
|
OMIM:617523 |
NCBI chr 1:155,946,854...155,979,617
Ensembl chr 1:155,946,851...156,007,070
|
|
G |
ARID1A |
AT-rich interaction domain 1A |
|
IAGP |
|
HPO |
|
OMIM:614607 |
NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
|
|
G |
ARID1B |
AT-rich interaction domain 1B |
|
IAGP |
|
HPO |
|
OMIM:135900 ORPHA:251056 |
NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
|
|
G |
ARL6 |
ADP ribosylation factor like GTPase 6 |
|
IAGP |
|
HPO |
|
OMIM:209900 ORPHA:110 |
NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
|
|
G |
ARX |
aristaless related homeobox |
|
IAGP |
|
HPO |
|
OMIM:300004 OMIM:300215 |
NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420
|
|
G |
ASH1L |
ASH1 like histone lysine methyltransferase |
|
IAGP |
|
HPO |
|
OMIM:617796 |
NCBI chr 1:155,335,268...155,563,202
Ensembl chr 1:155,335,268...155,563,162
|
|
G |
ASPH |
aspartate beta-hydroxylase |
|
IAGP |
|
HPO |
|
OMIM:601552 |
NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640
|
|
G |
ASXL3 |
ASXL transcriptional regulator 3 |
|
IAGP |
|
HPO |
|
OMIM:615485 |
NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195
|
|
G |
ATAD1 |
ATPase family AAA domain containing 1 |
|
IAGP |
|
HPO |
|
OMIM:618011 |
NCBI chr10:87,751,512...87,841,361
Ensembl chr10:87,751,512...87,841,361
|
|
G |
ATG7 |
autophagy related 7 |
|
IAGP |
|
HPO |
|
OMIM:619422 |
NCBI chr 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665
|
|
G |
ATP6V0A2 |
ATPase H+ transporting V0 subunit a2 |
|
IAGP |
|
HPO |
|
OMIM:219200 OMIM:278250 ORPHA:2834 ORPHA:357074 |
NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
|
|
G |
ATP6V1A |
ATPase H+ transporting V1 subunit A |
|
IAGP |
|
HPO |
|
ORPHA:357074 |
NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
|
|
G |
ATP6V1B2 |
ATPase H+ transporting V1 subunit B2 |
|
IAGP |
|
HPO |
|
ORPHA:3473 ORPHA:79500 |
NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819
|
|
G |
ATP6V1E1 |
ATPase H+ transporting V1 subunit E1 |
|
IAGP |
|
HPO |
|
OMIM:617402 ORPHA:357074 |
NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749
|
|
G |
ATP7A |
ATPase copper transporting alpha |
|
IAGP |
|
HPO |
|
OMIM:304150 |
NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395
|
|
G |
ATP9A |
ATPase phospholipid transporting 9A (putative) |
|
IAGP |
|
HPO |
|
OMIM:620242 |
NCBI chr20:51,596,514...51,768,390
Ensembl chr20:51,596,514...51,768,390
|
|
G |
ATR |
ATR serine/threonine kinase |
|
IAGP |
|
HPO |
|
OMIM:210600 |
NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733
|
|
G |
ATRX |
ATRX chromatin remodeler |
|
IAGP |
|
HPO |
|
OMIM:309580 |
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
|
|
G |
B3GALT6 |
beta-1,3-galactosyltransferase 6 |
|
IAGP |
|
HPO |
|
OMIM:271640 ORPHA:536467 |
NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
|
|
G |
BAP1 |
BRCA1 associated protein 1 |
|
IAGP |
|
HPO |
|
OMIM:619762 |
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
|
|
G |
BBIP1 |
BBSome interacting protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201
|
|
G |
BBS1 |
Bardet-Biedl syndrome 1 |
|
IAGP |
|
HPO |
|
OMIM:209900 ORPHA:110 |
NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
|
|
G |
BBS10 |
Bardet-Biedl syndrome 10 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415
|
|
G |
BBS12 |
Bardet-Biedl syndrome 12 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942
|
|
G |
BBS2 |
Bardet-Biedl syndrome 2 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667
|
|
G |
BBS4 |
Bardet-Biedl syndrome 4 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475
|
|
G |
BBS5 |
Bardet-Biedl syndrome 5 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655
|
|
G |
BBS7 |
Bardet-Biedl syndrome 7 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487
|
|
G |
BBS9 |
Bardet-Biedl syndrome 9 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180
|
|
G |
BCOR |
BCL6 corepressor |
|
IAGP |
|
HPO |
|
OMIM:309800 |
NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329
|
|
G |
BGN |
biglycan |
|
IAGP |
|
HPO |
|
OMIM:300989 |
NCBI chr X:153,494,980...153,509,546
Ensembl chr X:153,494,980...153,509,546
|
|
G |
BICRA |
BRD4 interacting chromatin remodeling complex associated protein |
|
IAGP |
|
HPO |
|
OMIM:619325 |
NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277
|
|
G |
BIN1 |
bridging integrator 1 |
|
IAGP |
|
HPO |
|
OMIM:255200 ORPHA:169186 |
NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288
|
|
G |
BLNK |
B cell linker |
|
IAGP |
|
HPO |
|
ORPHA:33110 |
NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587
|
|
G |
BLTP1 |
bridge-like lipid transfer protein family member 1 |
|
IAGP |
|
HPO |
|
OMIM:617822 |
NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167
|
|
G |
BMP2 |
bone morphogenetic protein 2 |
|
IAGP |
|
HPO |
|
OMIM:617877 |
NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
|
|
G |
BMP4 |
bone morphogenetic protein 4 |
|
IAGP |
|
HPO |
|
OMIM:607932 ORPHA:139471 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
|
|
G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
|
IAGP |
|
HPO |
|
OMIM:115150 OMIM:163950 ORPHA:1340 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
|
|
G |
BRAT1 |
BRCA1 associated ATM activator 1 |
|
IAGP |
|
HPO |
|
OMIM:618056 |
NCBI chr 7:2,537,810...2,555,524
Ensembl chr 7:2,537,810...2,555,694
|
|
G |
BRCA1 |
BRCA1 DNA repair associated |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
|
|
G |
BRCA2 |
BRCA2 DNA repair associated |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
|
|
G |
BRD4 |
bromodomain containing 4 |
|
IAGP |
|
HPO |
|
ORPHA:199 |
NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
|
|
G |
BRIP1 |
BRCA1 interacting helicase 1 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
|
|
G |
CA2 |
carbonic anhydrase 2 |
|
IAGP |
|
HPO |
|
ORPHA:2785 |
NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
|
|
G |
CACNA1S |
calcium voltage-gated channel subunit alpha1 S |
|
IAGP |
|
HPO |
|
OMIM:620246 |
NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451
|
|
G |
CACNA2D1 |
calcium voltage-gated channel auxiliary subunit alpha2delta 1 |
|
IAGP |
|
HPO |
|
OMIM:620149 |
NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956
|
|
G |
CAMSAP1 |
calmodulin regulated spectrin associated protein 1 |
|
IAGP |
|
HPO |
|
OMIM:620316 |
NCBI chr 9:135,808,487...135,907,546
Ensembl chr 9:135,808,487...135,907,546
|
|
G |
CAMTA1 |
calmodulin binding transcription activator 1 |
|
IAGP |
|
HPO |
|
OMIM:614756 |
NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706
|
|
G |
CASK |
calcium/calmodulin dependent serine protein kinase |
|
IAGP |
|
HPO |
|
OMIM:300749 |
NCBI chr X:41,514,934...41,923,554
Ensembl chr X:41,514,934...41,923,554
|
|
G |
CBL |
Cbl proto-oncogene |
|
IAGP |
|
HPO |
|
ORPHA:648 |
NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
|
|
G |
CBS |
cystathionine beta-synthase |
|
IAGP |
|
HPO |
|
OMIM:236200 ORPHA:394 |
NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
|
|
G |
CCDC22 |
coiled-coil domain containing 22 |
|
IAGP |
|
HPO |
|
OMIM:300963 |
NCBI chr X:49,235,470...49,250,520
Ensembl chr X:49,235,470...49,250,520
|
|
G |
CCDC28B |
coiled-coil domain containing 28B |
|
IAGP |
|
HPO |
|
OMIM:209900 |
NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,595...32,205,453
|
|
G |
CCDC47 |
coiled-coil domain containing 47 |
|
IAGP |
|
HPO |
|
OMIM:618268 |
NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351
|
|
G |
CD79A |
CD79a molecule |
|
IAGP |
|
HPO |
|
ORPHA:33110 |
NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372
|
|
G |
CD79B |
CD79b molecule |
|
IAGP |
|
HPO |
|
ORPHA:33110 |
NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336
|
|
G |
CD96 |
CD96 molecule |
|
IAGP |
|
HPO |
|
OMIM:211750 ORPHA:1308 |
NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,750
|
|
G |
CDC45 |
cell division cycle 45 |
|
IAGP |
|
HPO |
|
OMIM:617063 |
NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612
|
|
G |
CDH11 |
cadherin 11 |
|
IAGP |
|
HPO |
|
OMIM:211380 OMIM:619736 |
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
|
|
G |
CDH2 |
cadherin 2 |
|
IAGP |
|
HPO |
|
OMIM:618929 |
NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946
|
|
G |
CDK19 |
cyclin dependent kinase 19 |
|
IAGP |
|
HPO |
|
OMIM:618916 |
NCBI chr 6:110,609,978...110,815,855
Ensembl chr 6:110,609,978...110,815,958
|
|
G |
CDON |
cell adhesion associated, oncogene regulated |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
|
|
G |
CEP152 |
centrosomal protein 152 |
|
IAGP |
|
HPO |
|
OMIM:613823 |
NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146
|
|
G |
CEP19 |
centrosomal protein 19 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250
|
|
G |
CEP290 |
centrosomal protein 290 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
|
|
G |
CFAP418 |
cilia and flagella associated protein 418 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
|
|
G |
CFL2 |
cofilin 2 |
|
IAGP |
|
HPO |
|
OMIM:610687 ORPHA:171436 |
NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823
|
|
G |
CHAMP1 |
chromosome alignment maintaining phosphoprotein 1 |
|
IAGP |
|
HPO |
|
OMIM:616579 |
NCBI chr13:114,314,503...114,327,322
Ensembl chr13:114,314,482...114,337,626
|
|
G |
CHAT |
choline O-acetyltransferase |
|
IAGP |
|
HPO |
|
ORPHA:98914 |
NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942
|
|
G |
CHD3 |
chromodomain helicase DNA binding protein 3 |
|
IAGP |
|
HPO |
|
OMIM:618205 |
NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760
|
|
G |
CHKA |
choline kinase alpha |
|
IAGP |
|
HPO |
|
OMIM:620023 |
NCBI chr11:68,052,859...68,121,388
Ensembl chr11:68,052,859...68,121,444
|
|
G |
CHRNA1 |
cholinergic receptor nicotinic alpha 1 subunit |
|
IAGP |
|
HPO |
|
OMIM:601462 OMIM:608930 ORPHA:98913 |
NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935
|
|
G |
CHRNB1 |
cholinergic receptor nicotinic beta 1 subunit |
|
IAGP |
|
HPO |
|
OMIM:616313 ORPHA:98913 |
NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710
|
|
G |
CHRND |
cholinergic receptor nicotinic delta subunit |
|
IAGP |
|
HPO |
|
OMIM:616322 OMIM:616323 ORPHA:98913 |
NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667
|
|
G |
CHRNE |
cholinergic receptor nicotinic epsilon subunit |
|
IAGP |
|
HPO |
|
OMIM:608931 ORPHA:98913 |
NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438
|
|
G |
CHRNG |
cholinergic receptor nicotinic gamma subunit |
|
IAGP |
|
HPO |
|
OMIM:265000 ORPHA:2990 |
NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115
|
|
G |
CHST14 |
carbohydrate sulfotransferase 14 |
|
IAGP |
DNA:frameshift mutations, missense mutations:CDS:multiple |
HPO RGD |
PMID:26373698 |
OMIM:601776 ORPHA:2953, RGD:11061906 |
NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158
|
|
G |
CHST3 |
carbohydrate sulfotransferase 3 |
|
IAGP |
|
HPO |
|
OMIM:143095 |
NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558
|
|
G |
CLCF1 |
cardiotrophin like cytokine factor 1 |
|
IAGP |
|
HPO |
|
OMIM:610313 ORPHA:1545 |
NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177
|
|
G |
CLCN3 |
chloride voltage-gated channel 3 |
|
IAGP |
|
HPO |
|
OMIM:619512 |
NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673
|
|
G |
CLP1 |
cleavage factor polyribonucleotide kinase subunit 1 |
|
IAGP |
|
HPO |
|
OMIM:615803 |
NCBI chr11:57,657,762...57,661,865
Ensembl chr11:57,648,188...57,661,865
|
|
G |
CLTC |
clathrin heavy chain |
|
IAGP |
|
HPO |
|
OMIM:617854 |
NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,684...59,696,956
|
|
G |
CNOT1 |
CCR4-NOT transcription complex subunit 1 |
|
IAGP |
|
HPO |
|
OMIM:618500 ORPHA:556955 |
NCBI chr16:58,519,951...58,629,826
Ensembl chr16:58,519,951...58,629,885
|
|
G |
CNTN1 |
contactin 1 |
|
IAGP |
|
HPO |
|
OMIM:612540 |
NCBI chr12:40,692,439...41,072,415
Ensembl chr12:40,692,439...41,072,415
|
|
G |
CNTNAP1 |
contactin associated protein 1 |
|
IAGP |
|
HPO |
|
OMIM:618186 |
NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993
|
|
G |
COG1 |
component of oligomeric golgi complex 1 |
|
IAGP |
|
HPO |
|
OMIM:611209 ORPHA:263508 |
NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507
|
|
G |
COG5 |
component of oligomeric golgi complex 5 |
|
IAGP |
|
HPO |
|
ORPHA:263487 |
NCBI chr 7:107,201,372...107,563,920
Ensembl chr 7:107,201,372...107,564,261
|
|
G |
COL11A1 |
collagen type XI alpha 1 chain |
|
IAGP |
|
HPO |
|
ORPHA:560 |
NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
|
|
G |
COL12A1 |
collagen type XII alpha 1 chain |
|
IAGP |
|
HPO |
|
OMIM:616470 |
NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267
|
|
G |
COL13A1 |
collagen type XIII alpha 1 chain |
|
IAGP |
|
HPO |
|
OMIM:616720 ORPHA:98913 ORPHA:98914 |
NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275
|
|
G |
COL1A2 |
collagen type I alpha 2 chain |
|
IAGP |
|
HPO |
|
ORPHA:230851 |
NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
|
|
G |
COL2A1 |
collagen type II alpha 1 chain |
|
IAGP |
|
HPO |
|
ORPHA:93315 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
|
|
G |
COL5A1 |
collagen type V alpha 1 chain |
|
IAGP |
|
HPO |
|
OMIM:619329 |
NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
|
|
G |
COL6A1 |
collagen type VI alpha 1 chain |
|
IAGP |
|
HPO |
|
OMIM:254090 |
NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
|
|
G |
COLEC11 |
collectin subfamily member 11 |
|
IAGP |
|
HPO |
|
OMIM:265050 |
NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644
|
|
G |
COLQ |
collagen like tail subunit of asymmetric acetylcholinesterase |
|
IAGP |
|
HPO |
|
ORPHA:98915 |
NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751
|
|
G |
COX14 |
cytochrome c oxidase assembly factor COX14 |
|
IAGP |
|
HPO |
|
OMIM:619053 |
NCBI chr12:50,112,236...50,120,453
Ensembl chr12:50,112,082...50,120,457
|
|
G |
COX6A2 |
cytochrome c oxidase subunit 6A2 |
|
IAGP |
|
HPO |
|
OMIM:619062 |
NCBI chr16:31,427,731...31,428,360
Ensembl chr16:31,427,731...31,428,360
|
|
G |
CPLANE1 |
ciliogenesis and planar polarity effector complex subunit 1 |
|
IAGP |
|
HPO |
|
OMIM:277170 ORPHA:2754 |
NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376
|
|
G |
CPSF3 |
cleavage and polyadenylation specific factor 3 |
|
IAGP |
|
HPO |
|
OMIM:619876 |
NCBI chr 2:9,423,654...9,473,101
Ensembl chr 2:9,423,651...9,473,101
|
|
G |
CPT2 |
carnitine palmitoyltransferase 2 |
|
IAGP |
|
HPO |
|
OMIM:608836 |
NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
|
|
G |
CREBBP |
CREB binding protein |
|
IAGP |
ClinVar Annotator: match by term: High palate |
ClinVar HPO |
PMID:25741868 PMID:28492532 PMID:29460469 PMID:30755392 |
OMIM:180849 OMIM:618332 ORPHA:353277 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
|
|
G |
CRIPTO |
cripto, EGF-CFC family member |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457
|
|
G |
CRLF1 |
cytokine receptor like factor 1 |
|
IAGP |
|
HPO |
|
OMIM:272430 ORPHA:1545 |
NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741
|
|
G |
CSNK2A1 |
casein kinase 2 alpha 1 |
|
IAGP |
|
HPO |
|
OMIM:617062 |
NCBI chr20:472,498...543,790
Ensembl chr20:472,498...543,835
|
|
G |
CTBP1 |
C-terminal binding protein 1 |
|
IAGP |
|
HPO |
|
OMIM:617915 |
NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
|
|
G |
CTNNB1 |
catenin beta 1 |
|
IAGP |
|
HPO |
|
OMIM:615075 |
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
|
|
G |
CTNND2 |
catenin delta 2 |
|
IAGP |
|
HPO |
|
ORPHA:281 |
NCBI chr 5:10,971,836...11,904,446
Ensembl chr 5:10,971,836...11,904,446
|
|
G |
CTSK |
cathepsin K |
|
IAGP |
|
HPO |
|
ORPHA:763 |
NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577
|
|
G |
CTU2 |
cytosolic thiouridylase subunit 2 |
|
IAGP |
|
HPO |
|
OMIM:618142 |
NCBI chr16:88,706,503...88,715,396
Ensembl chr16:88,706,483...88,715,396
|
|
G |
CUL4B |
cullin 4B |
|
IAGP |
|
HPO |
|
ORPHA:85293 |
NCBI chr X:120,523,858...120,575,532
Ensembl chr X:120,505,920...120,604,074
|
|
G |
DBH |
dopamine beta-hydroxylase |
|
IAGP |
|
HPO |
|
OMIM:223360 |
NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329
|
|
G |
DCHS1 |
dachsous cadherin-related 1 |
|
IAGP |
|
HPO |
|
OMIM:601390 |
NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809
|
|
G |
DDHD2 |
DDHD domain containing 2 |
|
IAGP |
|
HPO |
|
OMIM:615033 ORPHA:320380 |
NCBI chr 8:38,231,585...38,273,647
Ensembl chr 8:38,225,218...38,275,558
|
|
G |
DDR2 |
discoidin domain receptor tyrosine kinase 2 |
|
IAGP |
|
HPO |
|
OMIM:271665 OMIM:618175 |
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
|
|
G |
DDX11 |
DEAD/H-box helicase 11 |
|
IAGP |
|
HPO |
|
OMIM:613398 |
NCBI chr12:31,073,860...31,104,799
Ensembl chr12:31,073,860...31,104,799
|
|
G |
DDX3X |
DEAD-box helicase 3 X-linked |
|
IAGP |
|
HPO |
|
ORPHA:3338 |
NCBI chr X:41,333,308...41,364,472
Ensembl chr X:41,333,348...41,364,472
|
|
G |
DDX59 |
DEAD-box helicase 59 |
|
IAGP |
|
HPO |
|
OMIM:174300 |
NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907
|
|
G |
DDX6 |
DEAD-box helicase 6 |
|
IAGP |
|
HPO |
|
OMIM:618653 |
NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164
|
|
G |
DEAF1 |
DEAF1 transcription factor |
|
IAGP |
|
HPO |
|
OMIM:615828 |
NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118
|
|
G |
DHPS |
deoxyhypusine synthase |
|
IAGP |
|
HPO |
|
OMIM:618480 |
NCBI chr19:12,672,470...12,681,880
Ensembl chr19:12,675,717...12,681,880
|
|
G |
DHX30 |
DExH-box helicase 30 |
|
IAGP |
|
HPO |
|
OMIM:617804 |
NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,909...47,850,195
|
|
G |
DISP1 |
dispatched RND transporter family member 1 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995
|
|
G |
DLG3 |
discs large MAGUK scaffold protein 3 |
|
IAGP |
|
HPO |
|
OMIM:300850 |
NCBI chr X:70,444,835...70,505,490
Ensembl chr X:70,444,835...70,505,490
|
|
G |
DLK1 |
delta like non-canonical Notch ligand 1 |
|
IAGP |
|
HPO |
|
ORPHA:254531 ORPHA:96184 |
NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
|
|
G |
DLL1 |
delta like canonical Notch ligand 1 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565
|
|
G |
DMXL2 |
Dmx like 2 |
|
IAGP |
|
HPO |
|
OMIM:618663 |
NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833
|
|
G |
DOCK3 |
dedicator of cytokinesis 3 |
|
IAGP |
|
HPO |
|
OMIM:618292 |
NCBI chr 3:50,674,927...51,384,198
Ensembl chr 3:50,674,927...51,384,198
|
|
G |
DOK7 |
docking protein 7 |
|
IAGP |
|
HPO |
|
ORPHA:98913 |
NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473
|
|
G |
DPAGT1 |
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
|
IAGP |
|
HPO |
|
ORPHA:353327 |
NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331
|
|
G |
DPH5 |
diphthamide biosynthesis 5 |
|
IAGP |
|
HPO |
|
OMIM:620070 |
NCBI chr 1:100,989,623...101,025,784
Ensembl chr 1:100,989,623...101,026,088
|
|
G |
DPM2 |
dolichyl-phosphate mannosyltransferase subunit 2, regulatory |
|
IAGP |
|
HPO |
|
OMIM:615042 ORPHA:329178 |
NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854
|
|
G |
DPYD |
dihydropyrimidine dehydrogenase |
|
IAGP |
|
HPO |
|
ORPHA:1675 |
NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
|
|
G |
DPYSL5 |
dihydropyrimidinase like 5 |
|
IAGP |
|
HPO |
|
OMIM:619435 |
NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351
|
|
G |
DSE |
dermatan sulfate epimerase |
|
IAGP |
|
HPO |
|
OMIM:615539 ORPHA:2953 |
NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
|
|
G |
DST |
dystonin |
|
IAGP |
|
HPO |
|
OMIM:614653 |
NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830
|
|
G |
DVL1 |
dishevelled segment polarity protein 1 |
|
IAGP |
|
HPO |
|
OMIM:180700 |
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
|
|
G |
DYNC1H1 |
dynein cytoplasmic 1 heavy chain 1 |
|
IAGP |
ClinVar Annotator: match by term: High palate |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443
|
|
G |
EARS2 |
glutamyl-tRNA synthetase 2, mitochondrial |
|
IAGP |
ClinVar Annotator: match by term: High palate |
ClinVar |
PMID:22492562 PMID:25058219 PMID:25741868 PMID:26893310 PMID:28492532 |
|
NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731
|
|
G |
EBP |
EBP cholestenol delta-isomerase |
|
IAGP |
|
HPO |
|
OMIM:300960 ORPHA:35173 ORPHA:401973 |
NCBI chr X:48,521,808...48,528,716
Ensembl chr X:48,521,799...48,528,716
|
|
G |
ECM1 |
extracellular matrix protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:530 |
NCBI chr 1:150,508,109...150,513,789
Ensembl chr 1:150,508,062...150,513,789
|
|
G |
EDEM3 |
ER degradation enhancing alpha-mannosidase like protein 3 |
|
IAGP |
|
HPO |
|
OMIM:619493 |
NCBI chr 1:184,690,237...184,754,858
Ensembl chr 1:184,690,237...184,754,907
|
|
G |
EEF1A2 |
eukaryotic translation elongation factor 1 alpha 2 |
|
IAGP |
|
HPO |
|
OMIM:616393 |
NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239
|
|
G |
EFEMP2 |
EGF containing fibulin extracellular matrix protein 2 |
|
IAGP |
|
HPO |
|
OMIM:614437 |
NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592
|
|
G |
EFL1 |
elongation factor like GTPase 1 |
|
IAGP |
|
HPO |
|
OMIM:617941 |
NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773
|
|
G |
EFNB1 |
ephrin B1 |
|
IAGP |
|
HPO |
|
ORPHA:1520 |
NCBI chr X:68,829,021...68,842,160
Ensembl chr X:68,829,021...68,842,160
|
|
G |
EIF2AK3 |
eukaryotic translation initiation factor 2 alpha kinase 3 |
|
IAGP |
|
HPO |
|
OMIM:226980 |
NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518
|
|
G |
EIF4A3 |
eukaryotic translation initiation factor 4A3 |
|
IAGP |
|
HPO |
|
OMIM:268305 |
NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151
|
|
G |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
|
IAGP |
|
HPO |
|
ORPHA:758 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
|
|
G |
EP300 |
E1A binding protein p300 |
|
IAGP |
|
HPO |
|
OMIM:180849 OMIM:613684 ORPHA:353284 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
|
|
G |
EPG5 |
ectopic P-granules 5 autophagy tethering factor |
|
IAGP |
|
HPO |
|
OMIM:242840 ORPHA:1493 |
NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329
|
|
G |
ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
|
|
G |
ERLIN2 |
ER lipid raft associated 2 |
|
IAGP |
|
HPO |
|
OMIM:611225 ORPHA:209951 ORPHA:280384 |
NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422
|
|
G |
ESCO2 |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
|
IAGP |
|
HPO |
|
OMIM:268300 ORPHA:3103 |
NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
|
|
G |
EXOC7 |
exocyst complex component 7 |
|
IAGP |
|
HPO |
|
OMIM:619072 |
NCBI chr17:76,081,016...76,103,787
Ensembl chr17:76,081,016...76,121,576
|
|
G |
EXOSC9 |
exosome component 9 |
|
IAGP |
|
HPO |
|
OMIM:618065 |
NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021
|
|
G |
EYA1 |
EYA transcriptional coactivator and phosphatase 1 |
|
IAGP |
|
HPO |
|
OMIM:113650 OMIM:166780 ORPHA:2792 |
NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025
|
|
G |
FAM149B1 |
family with sequence similarity 149 member B1 |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr10:73,168,119...73,244,504
Ensembl chr10:73,168,119...73,244,504
|
|
G |
FAM20C |
FAM20C golgi associated secretory pathway kinase |
|
IAGP |
DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human) |
HPO RGD |
PMID:25928877 |
OMIM:259775, RGD:11560491 |
NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772
|
|
G |
FANCA |
FA complementation group A |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
|
|
G |
FANCB |
FA complementation group B |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255
|
|
G |
FANCC |
FA complementation group C |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
|
|
G |
FANCD2 |
FA complementation group D2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
|
|
G |
FANCE |
FA complementation group E |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
|
|
G |
FANCF |
FA complementation group F |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
|
|
G |
FANCG |
FA complementation group G |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
|
|
G |
FANCI |
FA complementation group I |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
|
|
G |
FANCL |
FA complementation group L |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
|
|
G |
FANCM |
FA complementation group M |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
|
|
G |
FARSB |
phenylalanyl-tRNA synthetase subunit beta |
|
IAGP |
|
HPO |
|
OMIM:613658 |
NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092
|
|
G |
FAT4 |
FAT atypical cadherin 4 |
|
IAGP |
|
HPO |
|
OMIM:615546 |
NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
|
|
G |
FBN1 |
fibrillin 1 |
|
IAGP |
ClinVar Annotator: match by term: Increased palatal height ClinVar Annotator: match by term: High palate |
ClinVar HPO |
PMID:8040326 PMID:8541880 PMID:8791520 PMID:9399842 PMID:9401003 PMID:9452085 PMID:10633129 PMID:11143906 PMID:11700157 PMID:11826022 PMID:12203987 PMID:12446365 PMID:12938084 PMID:15054843 PMID:15241795 PMID:16971892 PMID:17657824 PMID:17679947 PMID:18087243 PMID:18615205 PMID:19089573 PMID:19293843 PMID:19328768 PMID:19839986 PMID:21895641 PMID:21932315 PMID:22772377 PMID:24161884 PMID:24199744 PMID:25053872 PMID:25741868 PMID:28492532 More...
|
OMIM:154700 OMIM:608328 OMIM:616914 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
|
|
G |
FBN2 |
fibrillin 2 |
|
IAGP |
|
HPO |
|
OMIM:121050 ORPHA:115 |
NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
|
|
G |
FBXL3 |
F-box and leucine rich repeat protein 3 |
|
IAGP |
|
HPO |
|
OMIM:606220 |
NCBI chr13:77,005,260...77,027,159
Ensembl chr13:76,992,598...77,027,195
|
|
G |
FBXO28 |
F-box protein 28 |
|
IAGP |
|
HPO |
|
OMIM:619777 |
NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047
|
|
G |
FGF8 |
fibroblast growth factor 8 |
|
IAGP |
|
HPO |
|
OMIM:612702 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
|
|
G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
IAGP |
|
HPO |
|
OMIM:101600 OMIM:166250 ORPHA:220386 ORPHA:93258 ORPHA:93924 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
|
|
G |
FGFR2 |
fibroblast growth factor receptor 2 |
|
IAGP |
ClinVar Annotator: match by term: High palate |
ClinVar HPO |
PMID:7874170 PMID:11781872 PMID:12884424 PMID:20643727 PMID:23348274 PMID:23754559 PMID:25271085 PMID:25741868 PMID:27228464 PMID:27683237 PMID:28492532 More...
|
OMIM:101600 OMIM:123500 OMIM:123790 ORPHA:168624 ORPHA:93258 ORPHA:93259 ORPHA:93260 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
|
|
G |
FGFR3 |
fibroblast growth factor receptor 3 |
|
IAGP |
|
HPO |
|
OMIM:602849 OMIM:610474 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
|
|
G |
FH |
fumarate hydratase |
|
IAGP |
|
HPO |
|
OMIM:606812 |
NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
|
|
G |
FIG4 |
FIG4 phosphoinositide 5-phosphatase |
|
IAGP |
|
HPO |
|
OMIM:216340 |
NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
|
|
G |
FLCN |
folliculin |
|
IAGP |
|
HPO |
|
OMIM:610883 |
NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188
|
|
G |
FLNA |
filamin A |
|
IAGP |
DNA:deletion:cds:c.4904_4912del (human) |
HPO RGD |
PMID:15654694 |
OMIM:305620, RGD:11565126 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
|
|
G |
FLNB |
filamin B |
|
IAGP |
|
HPO |
|
ORPHA:56305 |
NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
|
|
G |
FN1 |
fibronectin 1 |
|
IAGP |
|
HPO |
|
ORPHA:93315 |
NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
|
|
G |
FOXH1 |
forkhead box H1 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849
|
|
G |
FOXL2 |
forkhead box L2 |
|
IAGP |
|
HPO |
|
OMIM:110100 |
NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137
|
|
G |
FRA10AC1 |
FRA10A associated CGG repeat 1 |
|
IAGP |
|
HPO |
|
OMIM:620113 |
NCBI chr10:93,667,883...93,702,959
Ensembl chr10:93,667,883...93,702,592
|
|
G |
FRAS1 |
Fraser extracellular matrix complex subunit 1 |
|
IAGP |
|
HPO |
|
ORPHA:2052 |
NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
|
|
G |
FREM2 |
FRAS1 related extracellular matrix 2 |
|
IAGP |
|
HPO |
|
ORPHA:2052 |
NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131
|
|
G |
FRMPD4 |
FERM and PDZ domain containing 4 |
|
IAGP |
|
HPO |
|
OMIM:300983 |
NCBI chr X:11,822,439...12,724,523
Ensembl chr X:11,822,423...12,724,523
|
|
G |
FUT8 |
fucosyltransferase 8 |
|
IAGP |
|
HPO |
|
OMIM:618005 |
NCBI chr14:65,356,842...65,744,121
Ensembl chr14:65,410,592...65,744,121
|
|
G |
G6PC3 |
glucose-6-phosphatase catalytic subunit 3 |
|
IAGP |
|
HPO |
|
OMIM:612541 |
NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151
|
|
G |
GABRA3 |
gamma-aminobutyric acid type A receptor subunit alpha3 |
|
IAGP |
|
HPO |
|
OMIM:301091 |
NCBI chr X:152,166,234...152,451,315
Ensembl chr X:152,166,234...152,451,315
|
|
G |
GAS1 |
growth arrest specific 1 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506
|
|
G |
GATA1 |
GATA binding protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr X:48,786,590...48,794,311
Ensembl chr X:48,786,540...48,794,311
|
|
G |
GATA4 |
GATA binding protein 4 |
|
IAGP |
|
HPO |
|
ORPHA:251071 |
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
|
|
G |
GATAD2B |
GATA zinc finger domain containing 2B |
|
IAGP |
|
HPO |
|
ORPHA:363686 |
NCBI chr 1:153,804,725...153,922,972
Ensembl chr 1:153,789,030...153,923,360
|
|
G |
GBA1 |
glucosylceramidase beta 1 |
|
IAGP |
|
HPO |
|
ORPHA:85212 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
|
|
G |
GEMIN4 |
gem nuclear organelle associated protein 4 |
|
IAGP |
|
HPO |
|
OMIM:617913 |
NCBI chr17:744,421...754,410
Ensembl chr17:744,421...753,999
|
|
G |
GFPT1 |
glutamine--fructose-6-phosphate transaminase 1 |
|
IAGP |
|
HPO |
|
OMIM:608931 ORPHA:353327 |
NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250
|
|
G |
GIPC1 |
GIPC PDZ domain containing family member 1 |
|
IAGP |
|
HPO |
|
ORPHA:98897 |
NCBI chr19:14,477,762...14,496,127
Ensembl chr19:14,477,760...14,496,149
|
|
G |
GJA1 |
gap junction protein alpha 1 |
|
IAGP |
|
HPO |
|
OMIM:164200 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
|
|
G |
GJA5 |
gap junction protein alpha 5 |
|
IAGP |
|
HPO |
|
OMIM:612474 |
NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
|
|
G |
GJA8 |
gap junction protein alpha 8 |
|
IAGP |
|
HPO |
|
OMIM:612474 |
NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269
|
|
G |
GLE1 |
GLE1 RNA export mediator |
|
IAGP |
|
HPO |
|
OMIM:611890 |
NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874
|
|
G |
GLI2 |
GLI family zinc finger 2 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
|
|
G |
GMPPB |
GDP-mannose pyrophosphorylase B |
|
IAGP |
|
HPO |
|
ORPHA:353327 |
NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
|
|
G |
GNB1 |
G protein subunit beta 1 |
|
IAGP |
|
HPO |
|
OMIM:616973 ORPHA:488613 |
NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292
|
|
G |
GNB2 |
G protein subunit beta 2 |
|
IAGP |
|
HPO |
|
OMIM:619503 |
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
|
|
G |
GNE |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
|
IAGP |
|
HPO |
|
OMIM:269921 |
NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042
|
|
G |
GNPAT |
glyceronephosphate O-acyltransferase |
|
IAGP |
|
HPO |
|
OMIM:222765 |
NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,207...231,277,973
|
|
G |
GPT2 |
glutamic--pyruvic transaminase 2 |
|
IAGP |
|
HPO |
|
OMIM:616281 |
NCBI chr16:46,884,362...46,931,289
Ensembl chr16:46,884,362...46,931,289
|
|
G |
GRIP1 |
glutamate receptor interacting protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:2052 |
NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162
|
|
G |
GSC |
goosecoid homeobox |
|
IAGP |
|
HPO |
|
OMIM:602471 |
NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113
|
|
G |
H19 |
H19 imprinted maternally expressed transcript |
|
IAGP |
|
HPO |
|
ORPHA:231140 |
NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552
|
|
G |
HACD1 |
3-hydroxyacyl-CoA dehydratase 1 |
|
IAGP |
|
HPO |
|
ORPHA:2020 |
NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374
|
|
G |
HBA1 |
hemoglobin subunit alpha 1 |
|
IAGP |
|
HPO |
|
ORPHA:98791 |
NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522
|
|
G |
HBA2 |
hemoglobin subunit alpha 2 |
|
IAGP |
|
HPO |
|
ORPHA:98791 |
NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710
|
|
G |
HDAC8 |
histone deacetylase 8 |
|
IAGP |
|
HPO |
|
OMIM:300882 ORPHA:199 |
NCBI chr X:72,329,516...72,572,843
Ensembl chr X:72,329,516...72,573,101
|
|
G |
HEATR3 |
HEAT repeat containing 3 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272
|
|
G |
HERC1 |
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 |
|
IAGP |
|
HPO |
|
OMIM:617011 ORPHA:457359 |
NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948
|
|
G |
HIVEP2 |
HIVEP zinc finger 2 |
|
IAGP |
|
HPO |
|
OMIM:616977 |
NCBI chr 6:142,751,469...142,946,365
Ensembl chr 6:142,751,469...142,956,698
|
|
G |
HNRNPH1 |
heterogeneous nuclear ribonucleoprotein H1 |
|
IAGP |
|
HPO |
|
OMIM:620083 |
NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784
|
|
G |
HNRNPH2 |
heterogeneous nuclear ribonucleoprotein H2 |
|
IAGP |
|
HPO |
|
OMIM:300986 |
NCBI chr X:101,408,222...101,414,133
Ensembl chr X:101,408,222...101,414,133
|
|
G |
HNRNPK |
heterogeneous nuclear ribonucleoprotein K |
|
IAGP |
|
HPO |
|
OMIM:616580 |
NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631
|
|
G |
HNRNPU |
heterogeneous nuclear ribonucleoprotein U |
|
IAGP |
|
HPO |
|
ORPHA:238769 |
NCBI chr 1:244,850,297...244,864,543
Ensembl chr 1:244,840,638...244,864,560
|
|
G |
HOXB1 |
homeobox B1 |
|
IAGP |
|
HPO |
|
OMIM:614744 |
NCBI chr17:48,528,526...48,531,011
Ensembl chr17:48,528,526...48,531,011
|
|
G |
HPDL |
4-hydroxyphenylpyruvate dioxygenase like |
|
IAGP |
|
HPO |
|
OMIM:619026 |
NCBI chr 1:45,326,895...45,328,710
Ensembl chr 1:45,326,895...45,328,710
|
|
G |
HPGD |
15-hydroxyprostaglandin dehydrogenase |
|
IAGP |
|
HPO |
|
OMIM:259100 |
NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154
|
|
G |
HRAS |
HRas proto-oncogene, GTPase |
|
IAGP |
|
HPO |
|
OMIM:218040 |
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
|
|
G |
HSD17B4 |
hydroxysteroid 17-beta dehydrogenase 4 |
|
IAGP |
|
HPO |
|
OMIM:233400 OMIM:261515 |
NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199
|
|
G |
HSPA9 |
heat shock protein family A (Hsp70) member 9 |
|
IAGP |
|
HPO |
|
OMIM:616854 |
NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675
|
|
G |
HSPG2 |
heparan sulfate proteoglycan 2 |
|
IAGP |
|
HPO |
|
OMIM:255800 ORPHA:800 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
|
|
G |
HUWE1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
|
IAGP |
|
HPO |
|
OMIM:309590 |
NCBI chr X:53,532,096...53,686,719
Ensembl chr X:53,532,096...53,686,752
|
|
G |
HYMAI |
hydatidiform mole associated and imprinted |
|
IAGP |
|
HPO |
|
ORPHA:96191 |
NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262
|
|
G |
HYOU1 |
hypoxia up-regulated 1 |
|
IAGP |
|
HPO |
|
OMIM:233600 |
NCBI chr11:119,044,188...119,057,205
Ensembl chr11:119,044,188...119,057,227
|
|
G |
IBA57 |
iron-sulfur cluster assembly factor IBA57 |
|
IAGP |
|
HPO |
|
OMIM:615330 |
NCBI chr 1:228,165,804...228,182,257
Ensembl chr 1:228,165,804...228,182,257
|
|
G |
IER3IP1 |
immediate early response 3 interacting protein 1 |
|
IAGP |
|
HPO |
|
OMIM:614231 |
NCBI chr18:47,152,834...47,176,364
Ensembl chr18:47,152,834...47,176,364
|
|
G |
IFT122 |
intraflagellar transport 122 |
|
IAGP |
|
HPO |
|
OMIM:218330 |
NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
|
|
G |
IFT140 |
intraflagellar transport 140 |
|
IAGP |
|
HPO |
|
OMIM:266920 |
NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
|
|
G |
IFT172 |
intraflagellar transport 172 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
|
|
G |
IFT27 |
intraflagellar transport 27 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256
|
|
G |
IFT74 |
intraflagellar transport 74 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134
|
|
G |
IGBP1 |
immunoglobulin binding protein 1 |
|
IAGP |
|
HPO |
|
OMIM:300472 ORPHA:52055 |
NCBI chr X:70,133,447...70,166,324
Ensembl chr X:70,133,447...70,166,324
|
|
G |
IGF1R |
insulin like growth factor 1 receptor |
|
IAGP |
|
HPO |
|
OMIM:270450 |
NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
|
|
G |
IGF2 |
insulin like growth factor 2 |
|
IAGP |
|
HPO |
|
ORPHA:231140 |
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
|
|
G |
IGHM |
immunoglobulin heavy constant mu |
|
IAGP |
|
HPO |
|
ORPHA:33110 |
NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218
|
|
G |
IGLL1 |
immunoglobulin lambda like polypeptide 1 |
|
IAGP |
|
HPO |
|
ORPHA:33110 |
NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302
|
|
G |
IL11RA |
interleukin 11 receptor subunit alpha |
|
IAGP |
|
HPO |
|
OMIM:614188 |
NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902
|
|
G |
IL6ST |
interleukin 6 cytokine family signal transducer |
|
IAGP |
|
HPO |
|
OMIM:619750 OMIM:619752 |
NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
|
|
G |
INSR |
insulin receptor |
|
IAGP |
|
HPO |
|
OMIM:262190 ORPHA:769 |
NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
|
|
G |
IPO8 |
importin 8 |
|
IAGP |
|
HPO |
|
OMIM:619472 ORPHA:60030 |
NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
|
|
G |
IRX5 |
iroquois homeobox 5 |
|
IAGP |
|
HPO |
|
OMIM:611174 |
NCBI chr16:54,930,865...54,934,485
Ensembl chr16:54,930,865...54,934,485
|
|
G |
ITGA7 |
integrin subunit alpha 7 |
|
IAGP |
|
HPO |
|
ORPHA:2020 |
NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404
|
|
G |
KANSL1 |
KAT8 regulatory NSL complex subunit 1 |
|
IAGP |
|
HPO |
|
OMIM:610443 |
NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
|
|
G |
KBTBD13 |
kelch repeat and BTB domain containing 13 |
|
IAGP |
|
HPO |
|
ORPHA:171439 |
NCBI chr15:65,076,746...65,079,948
Ensembl chr15:65,076,746...65,079,948
|
|
G |
KCNH1 |
potassium voltage-gated channel subfamily H member 1 |
|
IAGP |
|
HPO |
|
OMIM:135500 ORPHA:3473 ORPHA:420561 |
NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
|
|
G |
KCNJ2 |
potassium inwardly rectifying channel subfamily J member 2 |
|
IAGP |
|
HPO |
|
OMIM:170390 ORPHA:37553 |
NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
|
|
G |
KCNJ5 |
potassium inwardly rectifying channel subfamily J member 5 |
|
IAGP |
|
HPO |
|
ORPHA:37553 |
NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
|
|
G |
KCNJ6 |
potassium inwardly rectifying channel subfamily J member 6 |
|
IAGP |
|
HPO |
|
OMIM:614098 ORPHA:435628 |
NCBI chr21:37,607,373...37,916,457
Ensembl chr21:37,607,373...38,121,345
|
|
G |
KCNK9 |
potassium two pore domain channel subfamily K member 9 |
|
IAGP |
|
HPO |
|
OMIM:612292 |
NCBI chr 8:139,600,838...139,703,123
Ensembl chr 8:139,600,838...139,704,109
|
|
G |
KCNMA1 |
potassium calcium-activated channel subfamily M alpha 1 |
|
IAGP |
|
HPO |
|
ORPHA:3473 |
NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369
|
|
G |
KCNN3 |
potassium calcium-activated channel subfamily N member 3 |
|
IAGP |
|
HPO |
|
OMIM:618658 ORPHA:3473 |
NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281
|
|
G |
KCNQ1 |
potassium voltage-gated channel subfamily Q member 1 |
|
IAGP |
ClinVar Annotator: match by term: High palate |
ClinVar |
PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19716085 PMID:19841300 PMID:22581653 PMID:22949429 PMID:23392653 PMID:23631430 PMID:24033266 PMID:24947509 PMID:25741868 PMID:25854863 PMID:26546361 PMID:26669661 PMID:27831900 PMID:28492532 PMID:30755392 PMID:31447099 PMID:32893267 PMID:34135346 PMID:34404389 PMID:34798354 PMID:35352813 PMID:36102233 More...
|
|
NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
|
|
G |
KDM5C |
lysine demethylase 5C |
|
IAGP |
|
HPO |
|
OMIM:300534 ORPHA:85279 |
NCBI chr X:53,176,277...53,225,207
Ensembl chr X:53,176,283...53,225,422
|
|
G |
KDM6A |
lysine demethylase 6A |
|
IAGP |
|
HPO |
|
OMIM:147920 OMIM:300867 ORPHA:2322 |
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
|
|
G |
KIAA0753 |
KIAA0753 |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
|
|
G |
KIF26A |
kinesin family member 26A |
|
IAGP |
|
HPO |
|
OMIM:620156 |
NCBI chr14:104,138,587...104,180,894
Ensembl chr14:104,136,454...104,180,894
|
|
G |
KIF7 |
kinesin family member 7 |
|
IAGP |
|
HPO |
|
OMIM:200990 ORPHA:2754 |
NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
|
|
G |
KLHL41 |
kelch like family member 41 |
|
IAGP |
|
HPO |
|
OMIM:615731 ORPHA:171436 ORPHA:171439 |
NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258
|
|
G |
KLHL7 |
kelch like family member 7 |
|
IAGP |
|
HPO |
|
OMIM:617055 |
NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914
|
|
G |
KLLN |
killin, p53 regulated DNA replication inhibitor |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533
|
|
G |
KMT2A |
lysine methyltransferase 2A |
|
IAGP |
|
HPO |
|
OMIM:605130 ORPHA:319182 |
NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832
|
|
G |
KMT2B |
lysine methyltransferase 2B |
|
IAGP |
|
HPO |
|
OMIM:619934 |
NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880
|
|
G |
KMT2D |
lysine methyltransferase 2D |
|
IAGP |
|
HPO |
|
OMIM:147920 ORPHA:2322 |
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
|
|
G |
KPTN |
kaptin, actin binding protein |
|
IAGP |
|
HPO |
|
OMIM:615637 ORPHA:397612 |
NCBI chr19:47,475,150...47,485,839
Ensembl chr19:47,475,150...47,484,265
|
|
G |
KRAS |
KRAS proto-oncogene, GTPase |
|
IAGP |
|
HPO |
|
OMIM:609942 OMIM:615278 ORPHA:1340 ORPHA:648 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
|
|
G |
L1CAM |
L1 cell adhesion molecule |
|
IAGP |
|
HPO |
|
OMIM:304100 |
NCBI chr X:153,861,514...153,886,173
Ensembl chr X:153,861,514...153,886,173
|
|
G |
LAGE3 |
L antigen family member 3 |
|
IAGP |
|
HPO |
|
OMIM:301006 |
NCBI chr X:154,477,775...154,479,281
Ensembl chr X:154,477,775...154,479,281
|
|
G |
LAMB2 |
laminin subunit beta 2 |
|
IAGP |
|
HPO |
|
ORPHA:98915 |
NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118
|
|
G |
LETM1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
|
IAGP |
|
HPO |
|
OMIM:620089 |
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
|
|
G |
LGI4 |
leucine rich repeat LGI family member 4 |
|
IAGP |
|
HPO |
|
OMIM:617468 |
NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451
|
|
G |
LIG4 |
DNA ligase 4 |
|
IAGP |
|
HPO |
|
ORPHA:235 |
NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
|
|
G |
LMBRD1 |
LMBR1 domain containing 1 |
|
IAGP |
|
HPO |
|
OMIM:277380 |
NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236
|
|
G |
LMNA |
lamin A/C |
|
IAGP |
|
HPO |
|
OMIM:248370 ORPHA:740 ORPHA:90153 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
|
|
G |
LMOD3 |
leiomodin 3 |
|
IAGP |
|
HPO |
|
ORPHA:171436 |
NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032
|
|
G |
LOX |
lysyl oxidase |
|
IAGP |
|
HPO |
|
OMIM:617168 |
NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413
|
|
G |
LRP12 |
LDL receptor related protein 12 |
|
IAGP |
|
HPO |
|
OMIM:164310 ORPHA:98897 |
NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258
|
|
G |
LRP4 |
LDL receptor related protein 4 |
|
IAGP |
|
HPO |
|
ORPHA:98913 |
NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642
|
|
G |
LRRC8A |
leucine rich repeat containing 8 VRAC subunit A |
|
IAGP |
|
HPO |
|
OMIM:613506 ORPHA:33110 |
NCBI chr 9:128,882,133...128,918,039
Ensembl chr 9:128,882,133...128,918,039
|
|
G |
LTBP1 |
latent transforming growth factor beta binding protein 1 |
|
IAGP |
|
HPO |
|
OMIM:619451 |
NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509
|
|
G |
LTBP2 |
latent transforming growth factor beta binding protein 2 |
|
IAGP |
DNA:frameshift mutation:CDSS:p.V600GfsX2 |
HPO RGD |
PMID:20179738 |
OMIM:251750, RGD:156451377 |
NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378
|
|
G |
LZTFL1 |
leucine zipper transcription factor like 1 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042
|
|
G |
LZTR1 |
leucine zipper like post translational regulator 1 |
|
IAGP |
DNA:missense mutation:cds:c.742G>A (p.G248R), c.360C>A (p.H120Q), c.2245T>C (p.Y749H) (human) |
HPO RGD |
PMID:31825158 |
OMIM:605275 OMIM:616564 ORPHA:648, RGD:151708718 |
NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
|
|
G |
MAD2L2 |
mitotic arrest deficient 2 like 2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,658,918...11,691,811
|
|
G |
MADD |
MAP kinase activating death domain |
|
IAGP |
|
HPO |
|
OMIM:619004 OMIM:619005 |
NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031
|
|
G |
MAMLD1 |
mastermind like domain containing 1 |
|
IAGP |
|
HPO |
|
ORPHA:456328 |
NCBI chr X:150,361,572...150,514,173
Ensembl chr X:150,361,422...150,514,178
|
|
G |
MAN2C1 |
mannosidase alpha class 2C member 1 |
|
IAGP |
|
HPO |
|
OMIM:619775 |
NCBI chr15:75,355,792...75,368,607
Ensembl chr15:75,355,207...75,368,612
|
|
G |
MAP1B |
microtubule associated protein 1B |
|
IAGP |
|
HPO |
|
OMIM:618918 |
NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565
|
|
G |
MAP2K1 |
mitogen-activated protein kinase kinase 1 |
|
IAGP |
|
HPO |
|
OMIM:163950 ORPHA:1340 |
NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
|
|
G |
MAP2K2 |
mitogen-activated protein kinase kinase 2 |
|
IAGP |
ClinVar Annotator: match by term: High palate |
ClinVar HPO |
PMID:25741868 PMID:28492532 |
ORPHA:1340 |
NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122
|
|
G |
MAP3K20 |
mitogen-activated protein kinase kinase kinase 20 |
|
IAGP |
|
HPO |
|
ORPHA:2020 |
NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015
|
|
G |
MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
|
IAGP |
|
HPO |
|
OMIM:617137 |
NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
|
|
G |
MAPK1 |
mitogen-activated protein kinase 1 |
|
IAGP |
|
HPO |
|
OMIM:619087 |
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
|
|
G |
MAPK8IP3 |
mitogen-activated protein kinase 8 interacting protein 3 |
|
IAGP |
|
HPO |
|
OMIM:618443 |
NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351
|
|
G |
MAPKAPK5 |
MAPK activated protein kinase 5 |
|
IAGP |
|
HPO |
|
OMIM:619869 |
NCBI chr12:111,842,228...111,902,222
Ensembl chr12:111,842,013...111,902,222
|
|
G |
MARS1 |
methionyl-tRNA synthetase 1 |
|
IAGP |
|
HPO |
|
OMIM:620323 |
NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569
|
|
G |
MECP2 |
methyl-CpG binding protein 2 |
|
IAGP |
|
HPO |
|
OMIM:300055 OMIM:300260 ORPHA:209370 |
NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103
|
|
G |
MED12 |
mediator complex subunit 12 |
|
IAGP |
|
HPO |
|
OMIM:300895 OMIM:309520 ORPHA:776 ORPHA:93932 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
|
|
G |
MED13L |
mediator complex subunit 13L |
|
IAGP |
|
HPO |
|
ORPHA:369891 |
NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693
|
|
G |
MED25 |
mediator complex subunit 25 |
|
IAGP |
|
HPO |
|
OMIM:616449 |
NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
|
|
G |
MEG3 |
maternally expressed 3 |
|
IAGP |
|
HPO |
|
ORPHA:254531 ORPHA:96184 |
NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
|
|
G |
MEGF10 |
multiple EGF like domains 10 |
|
IAGP |
|
HPO |
|
OMIM:614399 OMIM:620249 |
NCBI chr 5:127,229,300...127,461,222
Ensembl chr 5:127,290,796...127,465,737
|
|
G |
MEGF8 |
multiple EGF like domains 8 |
|
IAGP |
|
HPO |
|
OMIM:614976 |
NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769
|
|
G |
MESD |
mesoderm development LRP chaperone |
|
IAGP |
|
HPO |
|
OMIM:618644 |
NCBI chr15:80,946,289...80,989,819
Ensembl chr15:80,946,289...80,989,828
|
|
G |
MFAP5 |
microfibril associated protein 5 |
|
IAGP |
|
HPO |
|
OMIM:616166 |
NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888
|
|
G |
MID1 |
midline 1 |
|
IAGP |
|
HPO |
|
OMIM:300000 ORPHA:2745 |
NCBI chr X:10,445,310...10,833,683
Ensembl chr X:10,445,310...10,833,654
|
|
G |
MINPP1 |
multiple inositol-polyphosphate phosphatase 1 |
|
IAGP |
|
HPO |
|
ORPHA:284339 |
NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461
|
|
G |
MKKS |
MKKS centrosomal shuttling protein |
|
IAGP |
|
HPO |
|
ORPHA:110 ORPHA:2473 |
NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
|
|
G |
MKS1 |
MKS transition zone complex subunit 1 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
|
|
G |
MN1 |
MN1 proto-oncogene, transcriptional regulator |
|
IAGP |
|
HPO |
|
OMIM:618774 |
NCBI chr22:27,748,277...27,801,756
Ensembl chr22:27,748,277...27,801,756
|
|
G |
MOGS |
mannosyl-oligosaccharide glucosidase |
|
IAGP |
|
HPO |
|
OMIM:606056 ORPHA:79330 |
NCBI chr 2:74,461,057...74,465,382
Ensembl chr 2:74,461,057...74,465,410
|
|
G |
MRAS |
muscle RAS oncogene homolog |
|
IAGP |
|
HPO |
|
ORPHA:648 |
NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534
|
|
G |
MRPL12 |
mitochondrial ribosomal protein L12 |
|
IAGP |
|
HPO |
|
OMIM:618951 |
NCBI chr17:81,703,367...81,707,517
Ensembl chr17:81,703,367...81,707,517
|
|
G |
MSTO1 |
misato mitochondrial distribution and morphology regulator 1 |
|
IAGP |
|
HPO |
|
OMIM:617675 ORPHA:502423 |
NCBI chr 1:155,563,246...155,614,967
Ensembl chr 1:155,563,235...155,614,951
|
|
G |
MT-TE |
mitochondrially encoded tRNA-Glu (GAA/G) |
|
IAGP |
|
HPO |
|
ORPHA:254864 |
NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742
|
|
G |
MT-TN |
mitochondrially encoded tRNA-Asn (AAU/C) |
|
IAGP |
|
HPO |
|
OMIM:220110 |
NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729
|
|
G |
MT-TS1 |
mitochondrially encoded tRNA-Ser (UCN) 1 |
|
IAGP |
|
HPO |
|
OMIM:220110 |
NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
|
|
G |
MTM1 |
myotubularin 1 |
|
IAGP |
|
HPO |
|
OMIM:310400 ORPHA:456328 ORPHA:596 |
NCBI chr X:150,562,653...150,673,143
Ensembl chr X:150,568,417...150,673,143
|
|
G |
MTX2 |
metaxin 2 |
|
IAGP |
|
HPO |
|
OMIM:619127 |
NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025
|
|
G |
MUSK |
muscle associated receptor tyrosine kinase |
|
IAGP |
|
HPO |
|
OMIM:208150 ORPHA:98913 |
NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558
|
|
G |
MYBPC1 |
myosin binding protein C1 |
|
IAGP |
|
HPO |
|
OMIM:618524 |
NCBI chr12:101,594,971...101,695,841
Ensembl chr12:101,568,353...101,686,028
|
|
G |
MYCN |
MYCN proto-oncogene, bHLH transcription factor |
|
IAGP |
|
HPO |
|
OMIM:164280 |
NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
|
|
G |
MYH2 |
myosin heavy chain 2 |
|
IAGP |
|
HPO |
|
OMIM:605637 |
NCBI chr17:10,521,148...10,549,658
Ensembl chr17:10,521,148...10,549,700
|
|
G |
MYH3 |
myosin heavy chain 3 |
|
IAGP |
|
HPO |
|
OMIM:193700 ORPHA:1147 ORPHA:2990 |
NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
|
|
G |
MYH7 |
myosin heavy chain 7 |
|
IAGP |
|
HPO |
|
OMIM:160500 OMIM:255160 ORPHA:324604 ORPHA:59135 |
NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
|
|
G |
MYL1 |
myosin light chain 1 |
|
IAGP |
|
HPO |
|
OMIM:618414 |
NCBI chr 2:210,290,150...210,315,174
Ensembl chr 2:210,290,150...210,315,174
|
|
G |
MYL11 |
myosin light chain 11 |
|
IAGP |
|
HPO |
|
OMIM:619110 |
NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991
|
|
G |
MYL2 |
myosin light chain 2 |
|
IAGP |
|
HPO |
|
ORPHA:2020 |
NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,910,819...110,921,443
|
|
G |
MYMK |
myomaker, myoblast fusion factor |
|
IAGP |
|
HPO |
|
OMIM:254940 ORPHA:1358 |
NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612
|
|
G |
MYMX |
myomixer, myoblast fusion factor |
|
IAGP |
|
HPO |
|
ORPHA:1358 |
NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,234
|
|
G |
MYO18B |
myosin XVIIIB |
|
IAGP |
|
HPO |
|
OMIM:616549 |
NCBI chr22:25,742,188...26,063,847
Ensembl chr22:25,742,144...26,031,045
|
|
G |
MYO9A |
myosin IXA |
|
IAGP |
|
HPO |
|
ORPHA:98914 |
NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577
|
|
G |
MYOD1 |
myogenic differentiation 1 |
|
IAGP |
|
HPO |
|
OMIM:618975 |
NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136
|
|
G |
MYPN |
myopalladin |
|
IAGP |
|
HPO |
|
OMIM:617336 ORPHA:171439 ORPHA:171881 |
NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017
|
|
G |
NAA10 |
N-alpha-acetyltransferase 10, NatA catalytic subunit |
|
IAGP |
|
HPO |
|
OMIM:300855 OMIM:309800 |
NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080
|
|
G |
NALCN |
sodium leak channel, non-selective |
|
IAGP |
|
HPO |
|
ORPHA:1147 ORPHA:562528 |
NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508
|
|
G |
NCDN |
neurochondrin |
|
IAGP |
|
HPO |
|
OMIM:619373 |
NCBI chr 1:35,557,799...35,566,779
Ensembl chr 1:35,557,473...35,567,274
|
|
G |
NDUFA8 |
NADH:ubiquinone oxidoreductase subunit A8 |
|
IAGP |
|
HPO |
|
OMIM:619272 |
NCBI chr 9:122,132,466...122,159,779
Ensembl chr 9:122,144,058...122,159,779
|
|
G |
NEB |
nebulin |
|
IAGP |
|
HPO |
|
OMIM:256030 ORPHA:171436 ORPHA:171439 ORPHA:399103 |
NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487
|
|
G |
NEFL |
neurofilament light chain |
|
IAGP |
|
HPO |
|
OMIM:607684 |
NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
|
|
G |
NEK1 |
NIMA related kinase 1 |
|
IAGP |
|
HPO |
|
OMIM:252100 ORPHA:2751 |
NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
|
|
G |
NEK9 |
NIMA related kinase 9 |
|
IAGP |
|
HPO |
|
OMIM:617022 |
NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344
|
|
G |
NF1 |
neurofibromin 1 |
|
IAGP |
|
HPO |
|
ORPHA:363700 |
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
|
|
G |
NFIX |
nuclear factor I X |
|
IAGP |
|
HPO |
|
OMIM:602535 ORPHA:420179 |
NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
|
|
G |
NIPBL |
NIPBL cohesin loading factor |
|
IAGP |
|
HPO |
|
OMIM:122470 ORPHA:199 |
NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
|
|
G |
NODAL |
nodal growth differentiation factor |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
|
|
G |
NOTCH2 |
notch receptor 2 |
|
IAGP |
|
HPO |
|
OMIM:102500 |
NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
|
|
G |
NOTCH2NLC |
notch 2 N-terminal like C |
|
IAGP |
|
HPO |
|
ORPHA:98897 |
NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833
|
|
G |
NOTCH3 |
notch receptor 3 |
|
IAGP |
|
HPO |
|
OMIM:130720 ORPHA:2789 |
NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
|
|
G |
NPHP1 |
nephrocystin 1 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
|
|
G |
NR2F1 |
nuclear receptor subfamily 2 group F member 1 |
|
IAGP |
|
HPO |
|
OMIM:615722 |
NCBI chr 5:93,583,222...93,594,611
Ensembl chr 5:93,583,222...93,594,611
|
|
G |
NRAS |
NRAS proto-oncogene, GTPase |
|
IAGP |
|
HPO |
|
ORPHA:648 |
NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
|
|
G |
NRCAM |
neuronal cell adhesion molecule |
|
IAGP |
|
HPO |
|
OMIM:619833 |
NCBI chr 7:108,147,649...108,456,720
Ensembl chr 7:108,147,623...108,456,717
|
|
G |
NSD1 |
nuclear receptor binding SET domain protein 1 |
|
IAGP |
|
HPO |
|
OMIM:117550 |
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
|
|
G |
NSDHL |
NAD(P) dependent steroid dehydrogenase-like |
|
IAGP |
ClinVar Annotator: match by term: Increased palatal height |
ClinVar HPO |
PMID:25741868 |
OMIM:300831 ORPHA:251383 |
NCBI chr X:152,831,063...152,869,729
Ensembl chr X:152,830,967...152,869,729
|
|
G |
NSRP1 |
nuclear speckle splicing regulatory protein 1 |
|
IAGP |
|
HPO |
|
OMIM:620001 |
NCBI chr17:30,116,816...30,186,475
Ensembl chr17:30,115,521...30,186,475
|
|
G |
NSUN2 |
NOP2/Sun RNA methyltransferase 2 |
|
IAGP |
|
HPO |
|
ORPHA:235 |
NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
|
|
G |
NUP107 |
nucleoporin 107 |
|
IAGP |
|
HPO |
|
OMIM:616730 OMIM:618348 |
NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809
|
|
G |
NUP188 |
nucleoporin 188 |
|
IAGP |
|
HPO |
|
OMIM:618804 |
NCBI chr 9:128,947,699...129,007,096
Ensembl chr 9:128,947,699...129,007,096
|
|
G |
NUP88 |
nucleoporin 88 |
|
IAGP |
|
HPO |
|
OMIM:618393 |
NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164
|
|
G |
OBSL1 |
obscurin like cytoskeletal adaptor 1 |
|
IAGP |
|
HPO |
|
OMIM:612921 |
NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859
|
|
G |
OCLN |
occludin |
|
IAGP |
|
HPO |
|
OMIM:251290 |
NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104
|
|
G |
ODC1 |
ornithine decarboxylase 1 |
|
IAGP |
|
HPO |
|
OMIM:619075 |
NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327
|
|
G |
OFD1 |
OFD1 centriole and centriolar satellite protein |
|
IAGP |
|
HPO |
|
OMIM:300209 OMIM:311200 ORPHA:2750 ORPHA:2754 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
|
|
G |
OGDHL |
oxoglutarate dehydrogenase L |
|
IAGP |
|
HPO |
|
OMIM:619701 |
NCBI chr10:49,734,641...49,762,379
Ensembl chr10:49,734,641...49,762,379
|
|
G |
ORC1 |
origin recognition complex subunit 1 |
|
IAGP |
|
HPO |
|
OMIM:224690 |
NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423
|
|
G |
OSGEP |
O-sialoglycoprotein endopeptidase |
|
IAGP |
|
HPO |
|
OMIM:617729 |
NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089
|
|
G |
OTUD6B |
OTU deubiquitinase 6B |
|
IAGP |
|
HPO |
|
OMIM:617452 ORPHA:505237 |
NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095
|
|
G |
PAFAH1B1 |
platelet activating factor acetylhydrolase 1b regulatory subunit 1 |
|
IAGP |
|
HPO |
|
ORPHA:217385 |
NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,210...2,685,615
|
|
G |
PAH |
phenylalanine hydroxylase |
|
IAGP |
|
HPO |
|
ORPHA:2209 |
NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410
|
|
G |
PAK3 |
p21 (RAC1) activated kinase 3 |
|
IAGP |
|
HPO |
|
OMIM:300558 |
NCBI chr X:110,944,397...111,227,361
Ensembl chr X:110,944,285...111,227,361
|
|
G |
PALB2 |
partner and localizer of BRCA2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
|
|
G |
PAX1 |
paired box 1 |
|
IAGP |
|
HPO |
|
ORPHA:2792 |
NCBI chr20:21,705,664...21,718,481
Ensembl chr20:21,705,659...21,718,481
|
|
G |
PAX7 |
paired box 7 |
|
IAGP |
|
HPO |
|
OMIM:618578 |
NCBI chr 1:18,630,846...18,748,866
Ensembl chr 1:18,630,846...18,748,866
|
|
G |
PCGF2 |
polycomb group ring finger 2 |
|
IAGP |
|
HPO |
|
OMIM:618371 |
NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817
|
|
G |
PCLO |
piccolo presynaptic cytomatrix protein |
|
IAGP |
|
HPO |
|
OMIM:608027 |
NCBI chr 7:82,754,012...83,162,884
Ensembl chr 7:82,754,012...83,162,930
|
|
G |
PDE6D |
phosphodiesterase 6D |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272
|
|
G |
PDHX |
pyruvate dehydrogenase complex component X |
|
IAGP |
|
HPO |
|
OMIM:245349 |
NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591
|
|
G |
PDZD8 |
PDZ domain containing 8 |
|
IAGP |
|
HPO |
|
OMIM:620021 |
NCBI chr10:117,277,274...117,375,440
Ensembl chr10:117,277,274...117,375,440
|
|
G |
PEPD |
peptidase D |
|
IAGP |
|
HPO |
|
OMIM:170100 |
NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823
|
|
G |
PEX1 |
peroxisomal biogenesis factor 1 |
|
IAGP |
|
HPO |
|
OMIM:214100 ORPHA:912 |
NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
|
|
G |
PEX10 |
peroxisomal biogenesis factor 10 |
|
IAGP |
|
HPO |
|
ORPHA:912 |
NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797
|
|
G |
PEX11B |
peroxisomal biogenesis factor 11 beta |
|
IAGP |
|
HPO |
|
ORPHA:912 |
NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717
|
|
G |
PEX12 |
peroxisomal biogenesis factor 12 |
|
IAGP |
|
HPO |
|
ORPHA:912 |
NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863
|
|
G |
PEX13 |
peroxisomal biogenesis factor 13 |
|
IAGP |
|
HPO |
|
ORPHA:912 |
NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990
|
|
G |
PEX14 |
peroxisomal biogenesis factor 14 |
|
IAGP |
|
HPO |
|
ORPHA:912 |
NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758
|
|
G |
PEX16 |
peroxisomal biogenesis factor 16 |
|
IAGP |
|
HPO |
|
ORPHA:912 |
NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812
|
|
G |
PEX19 |
peroxisomal biogenesis factor 19 |
|
IAGP |
|
HPO |
|
ORPHA:912 |
NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348
|
|
G |
PEX2 |
peroxisomal biogenesis factor 2 |
|
IAGP |
|
HPO |
|
OMIM:614866 ORPHA:912 |
NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044
|
|
G |
PEX26 |
peroxisomal biogenesis factor 26 |
|
IAGP |
|
HPO |
|
OMIM:614872 ORPHA:912 |
NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396
|
|
G |
PEX3 |
peroxisomal biogenesis factor 3 |
|
IAGP |
|
HPO |
|
OMIM:614882 ORPHA:912 |
NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616
|
|
G |
PEX5 |
peroxisomal biogenesis factor 5 |
|
IAGP |
|
HPO |
|
OMIM:202370 ORPHA:912 |
NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
|
|
G |
PEX6 |
peroxisomal biogenesis factor 6 |
|
IAGP |
|
HPO |
|
ORPHA:912 |
NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
|
|
G |
PGAP2 |
post-GPI attachment to proteins 2 |
|
IAGP |
|
HPO |
|
ORPHA:247262 |
NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371
|
|
G |
PGAP3 |
post-GPI attachment to proteins phospholipase 3 |
|
IAGP |
|
HPO |
|
ORPHA:247262 |
NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797
|
|
G |
PGM2L1 |
phosphoglucomutase 2 like 1 |
|
IAGP |
|
HPO |
|
OMIM:620191 |
NCBI chr11:74,330,316...74,398,433
Ensembl chr11:74,330,316...74,398,433
|
|
G |
PGM3 |
phosphoglucomutase 3 |
|
IAGP |
|
HPO |
|
OMIM:615816 ORPHA:443811 |
NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936
|
|
G |
PHIP |
pleckstrin homology domain interacting protein |
|
IAGP |
|
HPO |
|
OMIM:617991 |
NCBI chr 6:78,934,419...79,078,254
Ensembl chr 6:78,934,419...79,078,287
|
|
G |
PIEZO2 |
piezo type mechanosensitive ion channel component 2 |
|
IAGP |
|
HPO |
|
OMIM:108145 OMIM:114300 OMIM:248700 OMIM:617146 ORPHA:376 |
NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
|
|
G |
PIGA |
phosphatidylinositol glycan anchor biosynthesis class A |
|
IAGP |
|
HPO |
|
OMIM:300868 |
NCBI chr X:15,319,451...15,335,554
Ensembl chr X:15,319,452...15,335,554
|
|
G |
PIGB |
phosphatidylinositol glycan anchor biosynthesis class B |
|
IAGP |
|
HPO |
|
OMIM:618580 |
NCBI chr15:55,319,222...55,355,648
Ensembl chr15:55,318,960...55,355,648
|
|
G |
PIGH |
phosphatidylinositol glycan anchor biosynthesis class H |
|
IAGP |
|
HPO |
|
OMIM:618010 |
NCBI chr14:67,589,306...67,600,301
Ensembl chr14:67,581,955...67,600,286
|
|
G |
PIGL |
phosphatidylinositol glycan anchor biosynthesis class L |
|
IAGP |
|
HPO |
|
ORPHA:247262 |
NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
|
|
G |
PIGN |
phosphatidylinositol glycan anchor biosynthesis class N |
|
IAGP |
|
HPO |
|
OMIM:614080 ORPHA:2059 ORPHA:280633 |
NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118
|
|
G |
PIGO |
phosphatidylinositol glycan anchor biosynthesis class O |
|
IAGP |
|
HPO |
|
ORPHA:247262 |
NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,087,237...35,096,619
|
|
G |
PIGT |
phosphatidylinositol glycan anchor biosynthesis class T |
|
IAGP |
|
HPO |
|
OMIM:615398 |
NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934
|
|
G |
PIGU |
phosphatidylinositol glycan anchor biosynthesis class U |
|
IAGP |
|
HPO |
|
OMIM:618590 |
NCBI chr20:34,560,542...34,677,092
Ensembl chr20:34,560,542...34,698,790
|
|
G |
PIGV |
phosphatidylinositol glycan anchor biosynthesis class V |
|
IAGP |
|
HPO |
|
ORPHA:247262 |
NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659
|
|
G |
PIGW |
phosphatidylinositol glycan anchor biosynthesis class W |
|
IAGP |
|
HPO |
|
OMIM:616025 ORPHA:247262 |
NCBI chr17:36,534,987...36,539,303
Ensembl chr17:36,534,987...36,539,310
|
|
G |
PIGY |
phosphatidylinositol glycan anchor biosynthesis class Y |
|
IAGP |
|
HPO |
|
OMIM:616809 ORPHA:247262 |
NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776
|
|
G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
IAGP |
|
HPO |
|
OMIM:615108 ORPHA:201 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
|
|
G |
PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
|
IAGP |
|
HPO |
|
ORPHA:33110 |
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
|
|
G |
PLAA |
phospholipase A2 activating protein |
|
IAGP |
|
HPO |
|
OMIM:617527 ORPHA:521426 |
NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242
|
|
G |
PLAGL1 |
PLAG1 like zinc finger 1 |
|
IAGP |
|
HPO |
|
ORPHA:96191 |
NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599
|
|
G |
PLCH1 |
phospholipase C eta 1 |
|
IAGP |
|
HPO |
|
ORPHA:93925 |
NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071
|
|
G |
PLOD1 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
|
IAGP |
ClinVar Annotator: match by term: Increased palatal height |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
|
|
G |
PLXND1 |
plexin D1 |
|
IAGP |
|
HPO |
|
ORPHA:570 |
NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
|
|
G |
PMM2 |
phosphomannomutase 2 |
|
IAGP |
|
HPO |
|
ORPHA:79318 |
NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
|
|
G |
POGZ |
pogo transposable element derived with ZNF domain |
|
IAGP |
|
HPO |
|
OMIM:616364 ORPHA:468678 |
NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494
|
|
G |
POLR1B |
RNA polymerase I subunit B |
|
IAGP |
|
HPO |
|
ORPHA:861 |
NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818
|
|
G |
POLR1C |
RNA polymerase I and III subunit C |
|
IAGP |
|
HPO |
|
ORPHA:861 |
NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419
|
|
G |
POLR1D |
RNA polymerase I and III subunit D |
|
IAGP |
|
HPO |
|
ORPHA:861 |
NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237
|
|
G |
POLR2A |
RNA polymerase II subunit A |
|
IAGP |
|
HPO |
|
OMIM:618603 |
NCBI chr17:7,484,366...7,514,616
Ensembl chr17:7,484,366...7,514,616
|
|
G |
POLRMT |
RNA polymerase mitochondrial |
|
IAGP |
|
HPO |
|
OMIM:619743 |
NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537
|
|
G |
PPP1CB |
protein phosphatase 1 catalytic subunit beta |
|
IAGP |
|
HPO |
|
OMIM:617506 |
NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940
|
|
G |
PPP1R21 |
protein phosphatase 1 regulatory subunit 21 |
|
IAGP |
|
HPO |
|
OMIM:619383 |
NCBI chr 2:48,440,766...48,515,386
Ensembl chr 2:48,440,598...48,515,391
|
|
G |
PPP2CA |
protein phosphatase 2 catalytic subunit alpha |
|
IAGP |
|
HPO |
|
OMIM:618354 |
NCBI chr 5:134,194,332...134,226,073
Ensembl chr 5:134,194,035...134,226,073
|
|
G |
PPP2R5D |
protein phosphatase 2 regulatory subunit B'delta |
|
IAGP |
|
HPO |
|
ORPHA:457279 |
NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342
|
|
G |
PQBP1 |
polyglutamine binding protein 1 |
|
IAGP |
|
HPO |
|
OMIM:309500 |
NCBI chr X:48,897,930...48,903,143
Ensembl chr X:48,890,197...48,903,402
|
|
G |
PRMT7 |
protein arginine methyltransferase 7 |
|
IAGP |
|
HPO |
|
OMIM:617157 |
NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852
|
|
G |
PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
|
IAGP |
|
HPO |
|
OMIM:300661 |
NCBI chr X:107,628,510...107,651,026
Ensembl chr X:107,628,428...107,651,993
|
|
G |
PSAT1 |
phosphoserine aminotransferase 1 |
|
IAGP |
|
HPO |
|
OMIM:616038 |
NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,125...78,330,093
|
|
G |
PTCH1 |
patched 1 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
|
|
G |
PTEN |
phosphatase and tensin homolog |
|
IAGP |
|
HPO |
|
OMIM:158350 OMIM:605309 ORPHA:201 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
|
|
G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
|
IAGP |
|
HPO |
|
OMIM:163950 ORPHA:648 |
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
|
|
G |
PTPN14 |
protein tyrosine phosphatase non-receptor type 14 |
|
IAGP |
|
HPO |
|
OMIM:613611 |
NCBI chr 1:214,348,700...214,551,602
Ensembl chr 1:214,348,700...214,552,449
|
|
G |
PUM1 |
pumilio RNA binding family member 1 |
|
IAGP |
|
HPO |
|
OMIM:617931 |
NCBI chr 1:30,931,506...31,065,717
Ensembl chr 1:30,931,506...31,065,991
|
|
G |
PURA |
purine rich element binding protein A |
|
IAGP |
|
HPO |
|
OMIM:616158 ORPHA:314655 ORPHA:438216 |
NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619
|
|
G |
PUS1 |
pseudouridine synthase 1 |
|
IAGP |
|
HPO |
|
OMIM:600462 ORPHA:2598 |
NCBI chr12:131,929,276...131,945,896
Ensembl chr12:131,929,200...131,945,896
|
|
G |
PUS7 |
pseudouridine synthase 7 |
|
IAGP |
|
HPO |
|
OMIM:618342 |
NCBI chr 7:105,456,501...105,522,271
Ensembl chr 7:105,439,661...105,522,271
|
|
G |
PYCR1 |
pyrroline-5-carboxylate reductase 1 |
|
IAGP |
|
HPO |
|
OMIM:612940 |
NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412
|
|
G |
PYCR2 |
pyrroline-5-carboxylate reductase 2 |
|
IAGP |
|
HPO |
|
ORPHA:481152 |
NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340
|
|
G |
PYROXD1 |
pyridine nucleotide-disulphide oxidoreductase domain 1 |
|
IAGP |
|
HPO |
|
OMIM:617258 |
NCBI chr12:21,437,655...21,471,250
Ensembl chr12:21,437,615...21,471,250
|
|
G |
QARS1 |
glutaminyl-tRNA synthetase 1 |
|
IAGP |
|
HPO |
|
OMIM:615760 |
NCBI chr 3:49,095,932...49,104,757
Ensembl chr 3:49,095,932...49,105,130
|
|
G |
QRICH1 |
glutamine rich 1 |
|
IAGP |
|
HPO |
|
OMIM:617982 |
NCBI chr 3:49,029,707...49,094,373
Ensembl chr 3:49,029,707...49,094,363
|
|
G |
RAB18 |
RAB18, member RAS oncogene family |
|
IAGP |
|
HPO |
|
ORPHA:2510 |
NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,543,207
|
|
G |
RAB23 |
RAB23, member RAS oncogene family |
|
IAGP |
|
HPO |
|
OMIM:201000 |
NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307
|
|
G |
RAB3GAP1 |
RAB3 GTPase activating protein catalytic subunit 1 |
|
IAGP |
|
HPO |
|
ORPHA:1387 ORPHA:2510 |
NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667
|
|
G |
RAB3GAP2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
|
IAGP |
|
HPO |
|
OMIM:212720 ORPHA:1387 ORPHA:2510 |
NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
|
|
G |
RAD21 |
RAD21 cohesin complex component |
|
IAGP |
|
HPO |
|
ORPHA:199 |
NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
|
|
G |
RAD51 |
RAD51 recombinase |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
|
|
G |
RAD51C |
RAD51 paralog C |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
|
|
G |
RAF1 |
Raf-1 proto-oncogene, serine/threonine kinase |
|
IAGP |
|
HPO |
|
ORPHA:648 |
NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
|
|
G |
RAPSN |
receptor associated protein of the synapse |
|
IAGP |
|
HPO |
|
OMIM:616326 OMIM:618388 ORPHA:98913 |
NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143
|
|
G |
RASA2 |
RAS p21 protein activator 2 |
|
IAGP |
|
HPO |
|
ORPHA:648 |
NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344
|
|
G |
RBM10 |
RNA binding motif protein 10 |
|
IAGP |
|
HPO |
|
OMIM:311900 |
NCBI chr X:47,145,221...47,186,813
Ensembl chr X:47,145,221...47,186,813
|
|
G |
RECQL4 |
RecQ like helicase 4 |
|
IAGP |
|
HPO |
|
OMIM:218600 OMIM:266280 OMIM:268400 ORPHA:1225 ORPHA:221016 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
|
|
G |
REEP1 |
receptor accessory protein 1 |
|
IAGP |
|
HPO |
|
OMIM:620011 |
NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083
|
|
G |
RERE |
arginine-glutamic acid dipeptide repeats |
|
IAGP |
|
HPO |
|
OMIM:616975 |
NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
|
|
G |
RET |
ret proto-oncogene |
|
IAGP |
|
HPO |
|
OMIM:162300 |
NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
|
|
G |
REV3L |
REV3 like, DNA directed polymerase zeta catalytic subunit |
|
IAGP |
|
HPO |
|
ORPHA:570 |
NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715
|
|
G |
RFWD3 |
ring finger and WD repeat domain 3 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
|
|
G |
RFX7 |
regulatory factor X7 |
|
IAGP |
|
HPO |
|
OMIM:620330 |
NCBI chr15:56,087,280...56,245,082
Ensembl chr15:56,087,280...56,245,082
|
|
G |
RILPL1 |
Rab interacting lysosomal protein like 1 |
|
IAGP |
|
HPO |
|
OMIM:619790 ORPHA:98897 |
NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719
|
|
G |
RIN2 |
Ras and Rab interactor 2 |
|
IAGP |
|
HPO |
|
OMIM:613075 ORPHA:217335 |
NCBI chr20:19,757,599...20,002,456
Ensembl chr20:19,757,606...20,002,457
|
|
G |
RIT1 |
Ras like without CAAX 1 |
|
IAGP |
|
HPO |
|
ORPHA:648 |
NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404
|
|
G |
RNASEH1 |
ribonuclease H1 |
|
IAGP |
|
HPO |
|
ORPHA:329336 |
NCBI chr 2:3,531,813...3,558,333
Ensembl chr 2:3,541,430...3,558,333
|
|
G |
RPL11 |
ribosomal protein L11 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835
|
|
G |
RPL15 |
ribosomal protein L15 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374
|
|
G |
RPL18 |
ribosomal protein L18 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184
|
|
G |
RPL26 |
ribosomal protein L26 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213
|
|
G |
RPL27 |
ribosomal protein L27 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959
|
|
G |
RPL31 |
ribosomal protein L31 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032
|
|
G |
RPL35 |
ribosomal protein L35 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981
|
|
G |
RPL35A |
ribosomal protein L35a |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610
|
|
G |
RPL5 |
ribosomal protein L5 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924
|
|
G |
RPL8 |
ribosomal protein L8 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 8:144,789,769...144,792,390
Ensembl chr 8:144,789,765...144,792,587
|
|
G |
RPL9 |
ribosomal protein L9 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931
|
|
G |
RPS10 |
ribosomal protein S10 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069
|
|
G |
RPS15A |
ribosomal protein S15a |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383
|
|
G |
RPS17 |
ribosomal protein S17 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459
|
|
G |
RPS19 |
ribosomal protein S19 |
|
IAGP |
|
HPO |
|
OMIM:105650 ORPHA:124 |
NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925
|
|
G |
RPS20 |
ribosomal protein S20 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510
|
|
G |
RPS23 |
ribosomal protein S23 |
|
IAGP |
|
HPO |
|
OMIM:617412 |
NCBI chr 5:82,273,320...82,278,354
Ensembl chr 5:82,273,320...82,278,396
|
|
G |
RPS24 |
ribosomal protein S24 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813
|
|
G |
RPS26 |
ribosomal protein S26 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697
|
|
G |
RPS27 |
ribosomal protein S27 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155
|
|
G |
RPS28 |
ribosomal protein S28 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340
|
|
G |
RPS29 |
ribosomal protein S29 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164
|
|
G |
RPS6KA3 |
ribosomal protein S6 kinase A3 |
|
IAGP |
|
HPO |
|
OMIM:303600 ORPHA:192 |
NCBI chr X:20,149,911...20,267,097
Ensembl chr X:20,149,911...20,267,519
|
|
G |
RPS7 |
ribosomal protein S7 |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920
|
|
G |
RRAS |
RAS related |
|
IAGP |
|
HPO |
|
ORPHA:648 |
NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143
|
|
G |
RRAS2 |
RAS related 2 |
|
IAGP |
|
HPO |
|
ORPHA:648 |
NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506
|
|
G |
RRM2B |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
|
IAGP |
|
HPO |
|
ORPHA:329336 |
NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
|
|
G |
RTL1 |
retrotransposon Gag like 1 |
|
IAGP |
|
HPO |
|
ORPHA:254531 ORPHA:96184 |
NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
|
|
G |
RUNX2 |
RUNX family transcription factor 2 |
|
IAGP |
|
HPO |
|
OMIM:119600 |
NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
|
|
G |
RUSC2 |
RUN and SH3 domain containing 2 |
|
IAGP |
|
HPO |
|
OMIM:617773 |
NCBI chr 9:35,490,111...35,561,895
Ensembl chr 9:35,490,111...35,561,898
|
|
G |
RYR1 |
ryanodine receptor 1 |
|
IAGP |
|
HPO |
|
OMIM:255320 OMIM:619542 ORPHA:169186 ORPHA:98905 |
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
|
|
G |
RYR3 |
ryanodine receptor 3 |
|
IAGP |
|
HPO |
|
OMIM:620310 |
NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121
|
|
G |
SATB2 |
SATB homeobox 2 |
|
IAGP |
|
HPO |
|
OMIM:612313 ORPHA:251019 ORPHA:251028 ORPHA:576283 |
NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
|
|
G |
SC5D |
sterol-C5-desaturase |
|
IAGP |
|
HPO |
|
ORPHA:46059 |
NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410
|
|
G |
SCAPER |
S-phase cyclin A associated protein in the ER |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444
|
|
G |
SCARF2 |
scavenger receptor class F member 2 |
|
IAGP |
|
HPO |
|
OMIM:600920 |
NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826
|
|
G |
SCLT1 |
sodium channel and clathrin linker 1 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 4:128,873,241...129,093,539
Ensembl chr 4:128,864,921...129,093,600
|
|
G |
SCN4A |
sodium voltage-gated channel alpha subunit 4 |
|
IAGP |
|
HPO |
|
OMIM:614198 OMIM:620351 OMIM:620369 ORPHA:98913 |
NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
|
|
G |
SCNM1 |
sodium channel modifier 1 |
|
IAGP |
|
HPO |
|
OMIM:620107 |
NCBI chr 1:151,166,144...151,170,296
Ensembl chr 1:151,156,664...151,170,296
|
|
G |
SCO2 |
synthesis of cytochrome C oxidase 2 |
|
IAGP |
|
HPO |
|
OMIM:604377 |
NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461
|
|
G |
SDCCAG8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091
|
|
G |
SDHB |
succinate dehydrogenase complex iron sulfur subunit B |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,032
|
|
G |
SDHC |
succinate dehydrogenase complex subunit C |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
|
|
G |
SDHD |
succinate dehydrogenase complex subunit D |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
|
|
G |
SEC23A |
SEC23 homolog A, COPII coat complex component |
|
IAGP |
|
HPO |
|
OMIM:607812 ORPHA:50814 |
NCBI chr14:39,031,919...39,103,235
Ensembl chr14:39,031,919...39,109,646
|
|
G |
SEC23B |
SEC23 homolog B, COPII coat complex component |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415
|
|
G |
SEC24D |
SEC24 homolog D, COPII coat complex component |
|
IAGP |
|
HPO |
|
OMIM:616294 |
NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683
|
|
G |
SEC31A |
SEC31 homolog A, COPII coat complex component |
|
IAGP |
|
HPO |
|
OMIM:618651 |
NCBI chr 4:82,818,509...82,900,569
Ensembl chr 4:82,818,509...82,901,166
|
|
G |
SELENON |
selenoprotein N |
|
IAGP |
|
HPO |
|
OMIM:602771 ORPHA:2020 ORPHA:324604 |
NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
|
|
G |
SEMA5A |
semaphorin 5A |
|
IAGP |
|
HPO |
|
ORPHA:281 |
NCBI chr 5:9,035,033...9,546,075
Ensembl chr 5:9,035,033...9,546,075
|
|
G |
SET |
SET nuclear proto-oncogene |
|
IAGP |
|
HPO |
|
OMIM:618106 |
NCBI chr 9:128,683,424...128,696,396
Ensembl chr 9:128,683,424...128,696,400
|
|
G |
SETBP1 |
SET binding protein 1 |
|
IAGP |
|
HPO |
|
OMIM:616078 ORPHA:798 |
NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
|
|
G |
SH3PXD2B |
SH3 and PX domains 2B |
|
IAGP |
|
HPO |
|
OMIM:249420 |
NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525
|
|
G |
SHANK3 |
SH3 and multiple ankyrin repeat domains 3 |
|
IAGP |
|
HPO |
|
OMIM:606232 |
NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,415...50,733,212
|
|
G |
SHH |
sonic hedgehog signaling molecule |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
|
|
G |
SHOC2 |
SHOC2 leucine rich repeat scaffold protein |
|
IAGP |
associated with Noonan syndrome and related diseases; DNA:mutation:cds:c.4A>G (p.S2G)(human) |
HPO RGD |
PMID:20882035 |
OMIM:607721, RGD:11071178 |
NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307
|
|
G |
SHOX |
SHOX homeobox |
|
IAGP |
|
HPO |
|
OMIM:127300 OMIM:249700 ORPHA:2632 ORPHA:314795 |
NCBI chr Y:624,344...659,411 NCBI chr X:624,344...659,411
Ensembl chr Y:624,344...659,411 Ensembl chr X:624,344...659,411
|
|
G |
SIAH1 |
siah E3 ubiquitin protein ligase 1 |
|
IAGP |
|
HPO |
|
OMIM:619314 |
NCBI chr16:48,360,531...48,387,246
Ensembl chr16:48,356,364...48,448,402
|
|
G |
SIK3 |
SIK family kinase 3 |
|
IAGP |
|
HPO |
|
OMIM:618162 |
NCBI chr11:116,843,402...117,098,428
Ensembl chr11:116,843,402...117,098,437
|
|
G |
SIN3A |
SIN3 transcription regulator family member A |
|
IAGP |
|
HPO |
|
OMIM:613406 |
NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
|
|
G |
SIX1 |
SIX homeobox 1 |
|
IAGP |
|
HPO |
|
OMIM:113650 |
NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259
|
|
G |
SIX3 |
SIX homeobox 3 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
|
|
G |
SKI |
SKI proto-oncogene |
|
IAGP |
|
HPO |
|
OMIM:182212 |
NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
|
|
G |
SLC10A7 |
solute carrier family 10 member 7 |
|
IAGP |
|
HPO |
|
OMIM:618363 |
NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372
|
|
G |
SLC12A6 |
solute carrier family 12 member 6 |
|
IAGP |
|
HPO |
|
OMIM:218000 |
NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060
|
|
G |
SLC17A5 |
solute carrier family 17 member 5 |
|
IAGP |
|
HPO |
|
OMIM:269920 |
NCBI chr 6:73,593,379...73,653,992
Ensembl chr 6:73,593,379...73,653,992
|
|
G |
SLC18A3 |
solute carrier family 18 member A3 |
|
IAGP |
|
HPO |
|
ORPHA:98914 |
NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720
|
|
G |
SLC25A1 |
solute carrier family 25 member 1 |
|
IAGP |
|
HPO |
|
ORPHA:98914 |
NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739
|
|
G |
SLC26A2 |
solute carrier family 26 member 2 |
|
IAGP |
|
HPO |
|
ORPHA:93307 |
NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
|
|
G |
SLC2A10 |
solute carrier family 2 member 10 |
|
IAGP |
|
HPO |
|
OMIM:208050 |
NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347
|
|
G |
SLC35A2 |
solute carrier family 35 member A2 |
|
IAGP |
|
HPO |
|
OMIM:300896 |
NCBI chr X:48,903,183...48,911,958
Ensembl chr X:48,903,180...48,911,958
|
|
G |
SLC39A13 |
solute carrier family 39 member 13 |
|
IAGP |
|
HPO |
|
OMIM:612350 |
NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496
|
|
G |
SLC39A7 |
solute carrier family 39 member 7 |
|
IAGP |
|
HPO |
|
ORPHA:33110 |
NCBI chr 6:33,200,867...33,204,437
Ensembl chr 6:33,200,305...33,204,439
|
|
G |
SLC5A7 |
solute carrier family 5 member 7 |
|
IAGP |
|
HPO |
|
ORPHA:98914 |
NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994
|
|
G |
SLF2 |
SMC5-SMC6 complex localization factor 2 |
|
IAGP |
|
HPO |
|
OMIM:620184 |
NCBI chr10:100,912,963...100,965,134
Ensembl chr10:100,912,963...100,965,134
|
|
G |
SLX4 |
SLX4 structure-specific endonuclease subunit |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
|
|
G |
SMAD2 |
SMAD family member 2 |
|
IAGP |
|
HPO |
|
OMIM:619656 OMIM:619657 ORPHA:60030 |
NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
|
|
G |
SMAD3 |
SMAD family member 3 |
|
IAGP |
|
HPO |
|
OMIM:613795 ORPHA:284984 ORPHA:60030 |
NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
|
|
G |
SMARCB1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
|
IAGP |
|
HPO |
|
OMIM:614608 |
NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
|
|
G |
SMARCD1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 |
|
IAGP |
|
HPO |
|
OMIM:618779 |
NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707
|
|
G |
SMC1A |
structural maintenance of chromosomes 1A |
|
IAGP |
|
HPO |
|
OMIM:300590 ORPHA:199 ORPHA:220386 |
NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728
|
|
G |
SMC3 |
structural maintenance of chromosomes 3 |
|
IAGP |
|
HPO |
|
OMIM:610759 ORPHA:199 |
NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048
|
|
G |
SMC5 |
structural maintenance of chromosomes 5 |
|
IAGP |
|
HPO |
|
OMIM:620185 |
NCBI chr 9:70,258,978...70,354,873
Ensembl chr 9:70,258,978...70,354,873
|
|
G |
SMCHD1 |
structural maintenance of chromosomes flexible hinge domain containing 1 |
|
IAGP |
|
HPO |
|
OMIM:603457 |
NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017
|
|
G |
SMG9 |
SMG9 nonsense mediated mRNA decay factor |
|
IAGP |
|
HPO |
|
OMIM:619995 |
NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962
|
|
G |
SMOC1 |
SPARC related modular calcium binding 1 |
|
IAGP |
|
HPO |
|
OMIM:206920 ORPHA:1106 |
NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366
|
|
G |
SMS |
spermine synthase |
|
IAGP |
|
HPO |
|
ORPHA:3063 |
NCBI chr X:21,940,709...21,994,837
Ensembl chr X:21,940,709...21,994,837
|
|
G |
SNAP25 |
synaptosome associated protein 25 |
|
IAGP |
|
HPO |
|
ORPHA:98914 |
NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258
|
|
G |
SNIP1 |
Smad nuclear interacting protein 1 |
|
IAGP |
|
HPO |
|
OMIM:614501 |
NCBI chr 1:37,534,449...37,554,293
Ensembl chr 1:37,534,449...37,554,293
|
|
G |
SNRPB |
small nuclear ribonucleoprotein polypeptides B and B1 |
|
IAGP |
|
HPO |
|
OMIM:117650 |
NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
|
|
G |
SNRPN |
small nuclear ribonucleoprotein polypeptide N |
|
IAGP |
|
HPO |
|
ORPHA:177907 |
NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
|
|
G |
SNX14 |
sorting nexin 14 |
|
IAGP |
|
HPO |
|
OMIM:616354 ORPHA:397709 |
NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156
|
|
G |
SON |
SON DNA and RNA binding protein |
|
IAGP |
|
HPO |
|
OMIM:617140 |
NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
|
|
G |
SOS1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
|
IAGP |
|
HPO |
|
ORPHA:648 |
NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
|
|
G |
SOS2 |
SOS Ras/Rho guanine nucleotide exchange factor 2 |
|
IAGP |
|
HPO |
|
ORPHA:648 |
NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578
|
|
G |
SOX11 |
SRY-box transcription factor 11 |
|
IAGP |
|
HPO |
|
OMIM:615866 |
NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385
|
|
G |
SOX6 |
SRY-box transcription factor 6 |
|
IAGP |
|
HPO |
|
OMIM:618971 |
NCBI chr11:15,966,449...16,738,477
Ensembl chr11:15,966,449...16,739,591
|
|
G |
SOX9 |
SRY-box transcription factor 9 |
|
IAGP |
|
HPO |
|
OMIM:114290 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
|
|
G |
SP7 |
Sp7 transcription factor |
|
IAGP |
|
HPO |
|
OMIM:613849 |
NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315
|
|
G |
SPEG |
striated muscle enriched protein kinase |
|
IAGP |
|
HPO |
|
OMIM:615959 ORPHA:169186 |
NCBI chr 2:219,434,843...219,493,629
Ensembl chr 2:219,434,843...219,493,629
|
|
G |
SPEN |
spen family transcriptional repressor |
|
IAGP |
|
HPO |
|
OMIM:619312 |
NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
|
|
G |
SPI1 |
Spi-1 proto-oncogene |
|
IAGP |
|
HPO |
|
ORPHA:33110 |
NCBI chr11:47,354,860...47,378,547
Ensembl chr11:47,354,860...47,409,369
|
|
G |
SPOP |
speckle type BTB/POZ protein |
|
IAGP |
|
HPO |
|
OMIM:618829 |
NCBI chr17:49,598,884...49,678,163
Ensembl chr17:49,598,884...49,678,163
|
|
G |
SPRED1 |
sprouty related EVH1 domain containing 1 |
|
IAGP |
|
HPO |
|
OMIM:611431 |
NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249
|
|
G |
SPRED2 |
sprouty related EVH1 domain containing 2 |
|
IAGP |
|
HPO |
|
ORPHA:648 |
NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637
|
|
G |
SPTBN1 |
spectrin beta, non-erythrocytic 1 |
|
IAGP |
|
HPO |
|
OMIM:619475 |
NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446
|
|
G |
SPTBN4 |
spectrin beta, non-erythrocytic 4 |
|
IAGP |
|
HPO |
|
OMIM:617519 |
NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464
|
|
G |
SRY |
sex determining region Y |
|
IAGP |
|
HPO |
|
ORPHA:1772 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
|
|
G |
STAC3 |
SH3 and cysteine rich domain 3 |
|
IAGP |
|
HPO |
|
OMIM:255995 ORPHA:168572 |
NCBI chr12:57,243,458...57,251,187
Ensembl chr12:57,243,453...57,251,188
|
|
G |
STAG1 |
STAG1 cohesin complex component |
|
IAGP |
|
HPO |
|
ORPHA:502434 |
NCBI chr 3:136,336,236...136,752,378
Ensembl chr 3:136,336,236...136,752,403
|
|
G |
STAG2 |
STAG2 cohesin complex component |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93925 |
NCBI chr X:123,960,560...124,102,656
Ensembl chr X:123,960,212...124,422,664
|
|
G |
STAT3 |
signal transducer and activator of transcription 3 |
|
IAGP |
|
HPO |
|
OMIM:147060 |
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
|
|
G |
STIL |
STIL centriolar assembly protein |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892
|
|
G |
SURF1 |
SURF1 cytochrome c oxidase assembly factor |
|
IAGP |
|
HPO |
|
OMIM:220110 |
NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676
|
|
G |
SYNGAP1 |
synaptic Ras GTPase activating protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:544254 |
NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689
|
|
G |
SYT2 |
synaptotagmin 2 |
|
IAGP |
|
HPO |
|
ORPHA:98914 |
NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454
|
|
G |
TAB2 |
TGF-beta activated kinase 1 (MAP3K7) binding protein 2 |
|
IAGP |
|
HPO |
|
ORPHA:228410 |
NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613
|
|
G |
TAF1 |
TATA-box binding protein associated factor 1 |
|
IAGP |
|
HPO |
|
ORPHA:480907 |
NCBI chr X:71,366,357...71,530,525
Ensembl chr X:71,366,222...71,532,374
|
|
G |
TAF6 |
TATA-box binding protein associated factor 6 |
|
IAGP |
|
HPO |
|
OMIM:617126 |
NCBI chr 7:100,107,070...100,127,171
Ensembl chr 7:100,106,876...100,119,841
|
|
G |
TASP1 |
taspase 1 |
|
IAGP |
|
HPO |
|
OMIM:618950 |
NCBI chr20:13,104,772...13,638,932
Ensembl chr20:13,389,392...13,638,932
|
|
G |
TBC1D20 |
TBC1 domain family member 20 |
|
IAGP |
|
HPO |
|
ORPHA:2510 |
NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566
|
|
G |
TBC1D24 |
TBC1 domain family member 24 |
|
IAGP |
|
HPO |
|
OMIM:220500 ORPHA:79500 |
NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560
|
|
G |
TBX1 |
T-box transcription factor 1 |
|
IAGP |
|
HPO |
|
OMIM:188400 |
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
|
|
G |
TBX4 |
T-box transcription factor 4 |
|
IAGP |
|
HPO |
|
OMIM:147891 |
NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110
|
|
G |
TCF3 |
transcription factor 3 |
|
IAGP |
|
HPO |
|
ORPHA:33110 |
NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615
|
|
G |
TCOF1 |
treacle ribosome biogenesis factor 1 |
|
IAGP |
|
HPO |
|
ORPHA:861 |
NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308
|
|
G |
TCTN3 |
tectonic family member 3 |
|
IAGP |
|
HPO |
|
OMIM:258860 ORPHA:2754 |
NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
|
|
G |
TET3 |
tet methylcytosine dioxygenase 3 |
|
IAGP |
|
HPO |
|
OMIM:618798 |
NCBI chr 2:73,983,631...74,135,498
Ensembl chr 2:73,984,910...74,108,176
|
|
G |
TFAP2A |
transcription factor AP-2 alpha |
|
IAGP |
ClinVar Annotator: match by term: Increased palatal height |
ClinVar HPO |
PMID:25741868 |
ORPHA:1297 |
NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
|
|
G |
TGDS |
TDP-glucose 4,6-dehydratase |
|
IAGP |
|
HPO |
|
OMIM:616145 |
NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242
|
|
G |
TGFB2 |
transforming growth factor beta 2 |
|
IAGP |
|
HPO |
|
OMIM:614816 ORPHA:60030 |
NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
|
|
G |
TGFB3 |
transforming growth factor beta 3 |
|
IAGP |
|
HPO |
|
OMIM:615582 ORPHA:60030 |
NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
|
|
G |
TGFBR1 |
transforming growth factor beta receptor 1 |
|
IAGP |
|
HPO |
|
ORPHA:60030 |
NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192
|
|
G |
TGFBR2 |
transforming growth factor beta receptor 2 |
|
IAGP |
|
HPO |
|
ORPHA:60030 |
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142
|
|
G |
TGIF1 |
TGFB induced factor homeobox 1 |
|
IAGP |
|
HPO |
|
ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
|
|
G |
THOC2 |
THO complex subunit 2 |
|
IAGP |
|
HPO |
|
ORPHA:457240 |
NCBI chr X:123,600,569...123,733,052
Ensembl chr X:123,600,561...123,733,056
|
|
G |
THSD4 |
thrombospondin type 1 domain containing 4 |
|
IAGP |
|
HPO |
|
OMIM:619825 |
NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383
|
|
G |
TIMM50 |
translocase of inner mitochondrial membrane 50 |
|
IAGP |
|
HPO |
|
OMIM:617698 |
NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785
|
|
G |
TLK2 |
tousled like kinase 2 |
|
IAGP |
|
HPO |
|
OMIM:618050 |
NCBI chr17:62,470,914...62,615,481
Ensembl chr17:62,458,658...62,615,481
|
|
G |
TMCO1 |
transmembrane and coiled-coil domains 1 |
|
IAGP |
|
HPO |
|
OMIM:213980 |
NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
|
|
G |
TMEM216 |
transmembrane protein 216 |
|
IAGP |
|
HPO |
|
OMIM:608091 ORPHA:2754 |
NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
|
|
G |
TNNI2 |
troponin I2, fast skeletal type |
|
IAGP |
|
HPO |
|
OMIM:601680 ORPHA:1147 |
NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680
|
|
G |
TNNT1 |
troponin T1, slow skeletal type |
|
IAGP |
|
HPO |
|
OMIM:620389 |
NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206
|
|
G |
TNNT3 |
troponin T3, fast skeletal type |
|
IAGP |
|
HPO |
|
ORPHA:1147 |
NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706
|
|
G |
TOE1 |
target of EGR1, exonuclease |
|
IAGP |
|
HPO |
|
OMIM:614969 ORPHA:284339 |
NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973
|
|
G |
TOGARAM1 |
TOG array regulator of axonemal microtubules 1 |
|
IAGP |
|
HPO |
|
OMIM:619185 |
NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431
|
|
G |
TOPORS |
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase |
|
IAGP |
|
HPO |
|
ORPHA:2754 |
NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586
|
|
G |
TPM2 |
tropomyosin 2 |
|
IAGP |
|
HPO |
|
OMIM:609285 ORPHA:1147 ORPHA:171436 ORPHA:171439 ORPHA:171881 ORPHA:2020 |
NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
|
|
G |
TPM3 |
tropomyosin 3 |
|
IAGP |
|
HPO |
|
OMIM:255310 OMIM:609284 ORPHA:171439 ORPHA:171881 ORPHA:2020 |
NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648
|
|
G |
TRIM32 |
tripartite motif containing 32 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300
|
|
G |
TRIO |
trio Rho guanine nucleotide exchange factor |
|
IAGP |
|
HPO |
|
OMIM:617061 OMIM:618825 ORPHA:476126 |
NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128
|
|
G |
TRIP12 |
thyroid hormone receptor interactor 12 |
|
IAGP |
|
HPO |
|
OMIM:617752 |
NCBI chr 2:229,763,837...229,923,186
Ensembl chr 2:229,763,837...229,923,239
|
|
G |
TRIP4 |
thyroid hormone receptor interactor 4 |
|
IAGP |
|
HPO |
|
OMIM:616866 OMIM:617066 ORPHA:486815 |
NCBI chr15:64,387,836...64,455,303
Ensembl chr15:64,387,748...64,455,303
|
|
G |
TRMU |
tRNA mitochondrial 2-thiouridylase |
|
IAGP |
|
HPO |
|
ORPHA:254864 |
NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340
|
|
G |
TRPM3 |
transient receptor potential cation channel subfamily M member 3 |
|
IAGP |
|
HPO |
|
OMIM:620224 |
NCBI chr 9:70,529,060...71,446,971
Ensembl chr 9:70,529,060...71,446,904
|
|
G |
TRPS1 |
transcriptional repressor GATA binding 1 |
|
IAGP |
|
HPO |
|
ORPHA:77258 |
NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
|
|
G |
TSPEAR |
thrombospondin type laminin G domain and EAR repeats |
|
IAGP |
|
HPO |
|
OMIM:620173 |
NCBI chr21:44,497,893...44,711,572
Ensembl chr21:44,497,893...44,711,572
|
|
G |
TSR2 |
TSR2 ribosome maturation factor |
|
IAGP |
|
HPO |
|
ORPHA:124 |
NCBI chr X:54,440,404...54,448,032
Ensembl chr X:54,440,404...54,448,032
|
|
G |
TTC5 |
tetratricopeptide repeat domain 5 |
|
IAGP |
|
HPO |
|
OMIM:619244 |
NCBI chr14:20,286,227...20,305,951
Ensembl chr14:20,256,558...20,305,960
|
|
G |
TTC8 |
tetratricopeptide repeat domain 8 |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078
|
|
G |
TTN |
titin |
|
IAGP |
|
HPO |
|
ORPHA:169186 ORPHA:324604 |
NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
|
|
G |
TUBB |
tubulin beta class I |
|
IAGP |
|
HPO |
|
OMIM:156610 |
NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538
|
|
G |
TUBB3 |
tubulin beta 3 class III |
|
IAGP |
|
HPO |
|
ORPHA:300570 |
NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761
|
|
G |
TWIST1 |
twist family bHLH transcription factor 1 |
|
IAGP |
|
HPO |
|
OMIM:617746 |
NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
|
|
G |
TWIST2 |
twist family bHLH transcription factor 2 |
|
IAGP |
|
HPO |
|
OMIM:209885 |
NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534
|
|
G |
TWNK |
twinkle mtDNA helicase |
|
IAGP |
|
HPO |
|
OMIM:616138 |
NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
|
|
G |
UBA1 |
ubiquitin like modifier activating enzyme 1 |
|
IAGP |
|
HPO |
|
ORPHA:1145 |
NCBI chr X:47,190,847...47,215,128
Ensembl chr X:47,190,861...47,215,128
|
|
G |
UBE2T |
ubiquitin conjugating enzyme E2 T |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984
|
|
G |
UBE3B |
ubiquitin protein ligase E3B |
|
IAGP |
|
HPO |
|
OMIM:244450 |
NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705
|
|
G |
UPF3B |
UPF3B regulator of nonsense mediated mRNA decay |
|
IAGP |
|
HPO |
|
OMIM:300676 ORPHA:776 |
NCBI chr X:119,805,311...119,852,963
Ensembl chr X:119,834,022...119,852,998
|
|
G |
USF3 |
upstream transcription factor family member 3 |
|
IAGP |
|
HPO |
|
ORPHA:201 |
NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646
|
|
G |
USH2A |
usherin |
|
IAGP |
ClinVar Annotator: match by term: High palate |
ClinVar |
PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 PMID:12112664 PMID:12525556 PMID:14970843 PMID:15025721 PMID:15325563 PMID:15326663 PMID:17405132 PMID:18641288 PMID:19881469 PMID:20145675 PMID:20301515 PMID:20507924 PMID:22135276 PMID:22581970 PMID:23924366 PMID:24033266 PMID:24088041 PMID:24160897 PMID:24607488 PMID:24944099 PMID:25097241 PMID:25404053 PMID:25649381 PMID:25741868 PMID:26629787 PMID:26633545 PMID:26872967 PMID:28041643 PMID:28492532 PMID:29953849 PMID:30718709 PMID:31836858 PMID:34906470 PMID:36011334 PMID:36909829 More...
|
|
NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
|
|
G |
USH2A-AS2 |
USH2A antisense RNA 2 |
|
IAGP |
ClinVar Annotator: match by term: High palate |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:216,072,465...216,086,917
Ensembl chr 1:216,072,465...216,086,917
|
|
G |
USP9X |
ubiquitin specific peptidase 9 X-linked |
|
IAGP |
|
HPO |
|
ORPHA:480880 |
NCBI chr X:41,085,445...41,236,579
Ensembl chr X:41,085,445...41,236,579
|
|
G |
VAMP1 |
vesicle associated membrane protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:98914 |
NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677
|
|
G |
VPS51 |
VPS51 subunit of GARP complex |
|
IAGP |
|
HPO |
|
OMIM:618606 |
NCBI chr11:65,096,214...65,111,862
Ensembl chr11:65,089,324...65,111,862
|
|
G |
WARS2 |
tryptophanyl tRNA synthetase 2, mitochondrial |
|
IAGP |
|
HPO |
|
ORPHA:572798 |
NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654
|
|
G |
WDPCP |
WD repeat containing planar cell polarity effector |
|
IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843
|
|
G |
WDR11 |
WD repeat domain 11 |
|
IAGP |
|
HPO |
|
OMIM:620237 |
NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524
|
|
G |
WDR35 |
WD repeat domain 35 |
|
IAGP |
|
HPO |
|
OMIM:613610 OMIM:614091 |
NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
|
|
G |
WDR4 |
WD repeat domain 4 |
|
IAGP |
|
HPO |
|
OMIM:618347 |
NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568
|
|
G |
WDR73 |
WD repeat domain 73 |
|
IAGP |
|
HPO |
|
OMIM:251300 |
NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343
|
|
G |
WLS |
Wnt ligand secretion mediator |
|
IAGP |
|
HPO |
|
OMIM:619648 |
NCBI chr 1:68,098,459...68,232,546
Ensembl chr 1:68,098,473...68,233,120
|
|
G |
WNT5A |
Wnt family member 5A |
|
IAGP |
|
HPO |
|
OMIM:180700 |
NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
|
|
G |
WNT7A |
Wnt family member 7A |
|
IAGP |
|
HPO |
|
OMIM:276820 |
NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
|
|
G |
XRCC2 |
X-ray repair cross complementing 2 |
|
IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
|
|
G |
YARS1 |
tyrosyl-tRNA synthetase 1 |
|
IAGP |
|
HPO |
|
OMIM:619418 |
NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031
|
|
G |
YARS2 |
tyrosyl-tRNA synthetase 2 |
|
IAGP |
|
HPO |
|
ORPHA:2598 |
NCBI chr12:32,746,544...32,755,897
Ensembl chr12:32,727,490...32,755,897
|
|
G |
YWHAE |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon |
|
IAGP |
|
HPO |
|
ORPHA:217385 |
NCBI chr17:1,344,275...1,400,222
Ensembl chr17:1,344,275...1,400,222
|
|
G |
YY1 |
YY1 transcription factor |
|
IAGP |
|
HPO |
|
OMIM:617557 ORPHA:506358 |
NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788
|
|
G |
ZBTB20 |
zinc finger and BTB domain containing 20 |
|
IAGP |
|
HPO |
|
OMIM:259050 |
NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292
|
|
G |
ZBTB24 |
zinc finger and BTB domain containing 24 |
|
IAGP |
|
HPO |
|
OMIM:614069 |
NCBI chr 6:109,462,594...109,483,219
Ensembl chr 6:109,460,632...109,483,239
|
|
G |
ZC4H2 |
zinc finger C4H2-type containing |
|
IAGP |
|
HPO |
|
OMIM:314580 |
NCBI chr X:64,915,807...65,034,741
Ensembl chr X:64,915,802...65,034,713
|
|
G |
ZDHHC9 |
zinc finger DHHC-type palmitoyltransferase 9 |
|
IAGP |
|
HPO |
|
ORPHA:776 |
NCBI chr X:129,803,288...129,843,886
Ensembl chr X:129,803,288...129,843,909
|
|
G |
ZIC2 |
Zic family member 2 |
|
IAGP |
|
HPO |
|
OMIM:609637 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 |
NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
|
|
G |
ZMPSTE24 |
zinc metallopeptidase STE24 |
|
IAGP |
|
HPO |
|
OMIM:608612 ORPHA:740 |
NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
|
|
G |
ZMYM2 |
zinc finger MYM-type containing 2 |
|
IAGP |
|
HPO |
|
OMIM:619522 |
NCBI chr13:19,863,840...20,089,115
Ensembl chr13:19,958,677...20,091,829
|
|
G |
ZNF292 |
zinc finger protein 292 |
|
IAGP |
|
HPO |
|
OMIM:619188 |
NCBI chr 6:87,155,565...87,265,943
Ensembl chr 6:87,151,803...87,265,943
|
|
G |
ZNF341 |
zinc finger protein 341 |
|
IAGP |
|
HPO |
|
OMIM:618282 |
NCBI chr20:33,731,996...33,792,269
Ensembl chr20:33,731,657...33,792,269
|
|
G |
ZNF668 |
zinc finger protein 668 |
|
IAGP |
|
HPO |
|
OMIM:620194 |
NCBI chr16:31,060,847...31,074,240
Ensembl chr16:31,060,843...31,074,240
|
|
G |
ZNF699 |
zinc finger protein 699 |
|
IAGP |
|
HPO |
|
OMIM:619488 |
NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
|
|
|
G |
AARS1 |
alanyl-tRNA synthetase 1 |
|
IAGP |
|
HPO |
|
ORPHA:33364 |
NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707
|
|
G |
ABCC6 |
ATP binding cassette subfamily C member 6 |
|
IAGP |
|
HPO |
|
OMIM:177850 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
|
|
G |
ACTA1 |
actin alpha 1, skeletal muscle |
|
IAGP |
|
HPO |
|
ORPHA:171433 |
NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
|
|
G |
ACTA2 |
actin alpha 2, smooth muscle |
|
IAGP |
|
HPO |
|
ORPHA:91387 |
NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,935,074...88,991,339
|
|
G |
ADNP |
activity dependent neuroprotector homeobox |
|
IAGP |
|
HPO |
|
OMIM:615873 |
NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
|
|
G |
AFF4 |
ALF transcription elongation factor 4 |
|
IAGP |
|
HPO |
|
OMIM:616368 |
NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
|
|
G |
AMER1 |
APC membrane recruitment protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:2780 |
NCBI chr X:64,185,117...64,205,708
Ensembl chr X:64,185,117...64,205,708
|
|
G |
ANTXR1 |
ANTXR cell adhesion molecule 1 |
|
IAGP |
|
HPO |
|
OMIM:230740 |
NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327
|
|
G |
APC |
APC regulator of WNT signaling pathway |
|
IAGP |
|
HPO |
|
ORPHA:3258 |
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
|
|
G |
ARID2 |
AT-rich interaction domain 2 |
|
IAGP |
|
HPO |
|
OMIM:617808 |
NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
|
|
G |
ARL6 |
ADP ribosylation factor like GTPase 6 |
|
IAGP |
|
HPO |
|
OMIM:209900 |
NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
|
|
G |
ASXL3 |
ASXL transcriptional regulator 3 |
|
IAGP |
|
HPO |
|
ORPHA:352577 |
NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195
|
|
G |
ATN1 |
atrophin 1 |
|
IAGP |
|
HPO |
|
OMIM:618494 |
NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321
|
|
G |
ATP7A |
ATPase copper transporting alpha |
|
IAGP |
|
HPO |
|
ORPHA:198 |
NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395
|
|
G |
BBS1 |
Bardet-Biedl syndrome 1 |
|
IAGP |
|
HPO |
|
OMIM:209900 |
NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
|
|
G |
BCOR |
BCL6 corepressor |
|
IAGP |
|
HPO |
|
OMIM:309800 |
NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329
|
|
G |
BCR |
BCR activator of RhoGEF and GTPase |
|
IAGP |
|
HPO |
|
ORPHA:261330 |
NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
|
|
G |
BMPR1A |
bone morphogenetic protein receptor type 1A |
|
IAGP |
|
HPO |
|
ORPHA:79076 |
NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,756,596...86,932,825
|
|
G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
|
IAGP |
|
HPO |
|
OMIM:163950 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
|
|
G |
CARS1 |
cysteinyl-tRNA synthetase 1 |
|
IAGP |
|
HPO |
|
ORPHA:33364 |
NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613
|
|
G |
CCDC22 |
coiled-coil domain containing 22 |
|
IAGP |
|
HPO |
|
ORPHA:7 |
NCBI chr X:49,235,470...49,250,520
Ensembl chr X:49,235,470...49,250,520
|
|
G |
CCDC28B |
coiled-coil domain containing 28B |
|
IAGP |
|
HPO |
|
OMIM:209900 |
NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,595...32,205,453
|
|
G |
CDC45 |
cell division cycle 45 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612
|
|
G |
CDC6 |
cell division cycle 6 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657
|
|
G |
CDK10 |
cyclin dependent kinase 10 |
|
IAGP |
|
HPO |
|
OMIM:617694 |
NCBI chr16:89,686,689...89,696,354
Ensembl chr16:89,680,737...89,696,354
|
|
G |
CDK5RAP2 |
CDK5 regulatory subunit associated protein 2 |
|
IAGP |
DNA:mutations:splice junction:c.383+1G>C,c.4005-9A>G(human) |
RGD |
PMID:26436113 |
RGD:13450906 |
NCBI chr 9:120,388,875...120,580,167
Ensembl chr 9:120,388,875...120,580,170
|
|
G |
CDT1 |
chromatin licensing and DNA replication factor 1 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258
|
|
G |
CNTN1 |
contactin 1 |
|
IAGP |
|
HPO |
|
OMIM:612540 |
NCBI chr12:40,692,439...41,072,415
Ensembl chr12:40,692,439...41,072,415
|
|
G |
COL11A1 |
collagen type XI alpha 1 chain |
|
IAGP |
|
HPO |
|
OMIM:604841 |
NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
|
|
G |
COL12A1 |
collagen type XII alpha 1 chain |
|
IAGP |
|
HPO |
|
ORPHA:536516 |
NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267
|
|
G |
COL3A1 |
collagen type III alpha 1 chain |
|
IAGP |
|
HPO |
|
ORPHA:286 |
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
|
|
G |
COPB1 |
COPI coat complex subunit beta 1 |
|
IAGP |
|
HPO |
|
OMIM:619255 |
NCBI chr11:14,457,512...14,499,811
Ensembl chr11:14,443,440...14,500,027
|
|
G |
CPT2 |
carnitine palmitoyltransferase 2 |
|
IAGP |
|
HPO |
|
ORPHA:228308 |
NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
|
|
G |
CREBBP |
CREB binding protein |
|
IAGP |
|
HPO |
|
OMIM:180849 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
|
|
G |
CRKL |
CRK like proto-oncogene, adaptor protein |
|
IAGP |
|
HPO |
|
ORPHA:261330 |
NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747
|
|
G |
DDX59 |
DEAD-box helicase 59 |
|
IAGP |
|
HPO |
|
ORPHA:2919 |
NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907
|
|
G |
DIS3L2 |
DIS3 like 3'-5' exoribonuclease 2 |
|
IAGP |
|
HPO |
|
ORPHA:2849 |
NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350
|
|
G |
DPM1 |
dolichyl-phosphate mannosyltransferase subunit 1, catalytic |
|
IAGP |
|
HPO |
|
OMIM:608799 ORPHA:79322 |
NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140
|
|
G |
DPYSL5 |
dihydropyrimidinase like 5 |
|
IAGP |
|
HPO |
|
ORPHA:7 |
NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351
|
|
G |
DVL1 |
dishevelled segment polarity protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:3107 |
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
|
|
G |
DVL3 |
dishevelled segment polarity protein 3 |
|
IAGP |
|
HPO |
|
ORPHA:3107 |
NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
|
|
G |
ELN |
elastin |
|
IAGP |
|
HPO |
|
ORPHA:91387 |
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
|
|
G |
EP300 |
E1A binding protein p300 |
|
IAGP |
|
HPO |
|
OMIM:180849 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
|
|
G |
ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
|
IAGP |
|
HPO |
|
ORPHA:33364 |
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
|
|
G |
ERCC3 |
ERCC excision repair 3, TFIIH core complex helicase subunit |
|
IAGP |
|
HPO |
|
ORPHA:33364 |
NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
|
|
G |
ERMARD |
ER membrane associated RNA degradation |
|
IAGP |
|
HPO |
|
ORPHA:75857 |
NCBI chr 6:169,751,306...169,781,600
Ensembl chr 6:169,751,622...169,781,600
|
|
G |
FBN1 |
fibrillin 1 |
|
IAGP |
ClinVar Annotator: match by term: Narrow, highly arched roof of mouth |
ClinVar HPO |
PMID:25741868 PMID:28492532 |
OMIM:616914 ORPHA:2462 ORPHA:284979 ORPHA:91387 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
|
|
G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
IAGP |
|
HPO |
|
OMIM:190440 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
|
|
G |
FGFR3 |
fibroblast growth factor receptor 3 |
|
IAGP |
|
HPO |
|
ORPHA:53271 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
|
|
G |
FIG4 |
FIG4 phosphoinositide 5-phosphatase |
|
IAGP |
|
HPO |
|
ORPHA:3472 |
NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
|
|
G |
FOXE3 |
forkhead box E3 |
|
IAGP |
|
HPO |
|
ORPHA:91387 |
NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052
|
|
G |
FOXP2 |
forkhead box P2 |
|
IAGP |
|
HPO |
|
ORPHA:209908 |
NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772
|
|
G |
FZD2 |
frizzled class receptor 2 |
|
IAGP |
|
HPO |
|
ORPHA:3107 |
NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
|
|
G |
GIPC1 |
GIPC PDZ domain containing family member 1 |
|
IAGP |
|
HPO |
|
ORPHA:98897 |
NCBI chr19:14,477,762...14,496,127
Ensembl chr19:14,477,760...14,496,149
|
|
G |
GMNN |
geminin DNA replication inhibitor |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
|
|
G |
GNE |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
|
IAGP |
|
HPO |
|
ORPHA:3166 |
NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042
|
|
G |
GPC3 |
glypican 3 |
|
IAGP |
|
HPO |
|
ORPHA:373 |
NCBI chr X:133,535,745...133,985,594
Ensembl chr X:133,535,745...133,987,100
|
|
G |
GPC4 |
glypican 4 |
|
IAGP |
|
HPO |
|
ORPHA:373 |
NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489
|
|
G |
GRB10 |
growth factor receptor bound protein 10 |
|
IAGP |
|
HPO |
|
ORPHA:96182 |
NCBI chr 7:50,590,068...50,793,453
Ensembl chr 7:50,590,063...50,793,462
|
|
G |
GTF2E2 |
general transcription factor IIE subunit 2 |
|
IAGP |
|
HPO |
|
ORPHA:33364 |
NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236
|
|
G |
GTF2H5 |
general transcription factor IIH subunit 5 |
|
IAGP |
|
HPO |
|
ORPHA:33364 |
NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344
|
|
G |
H4C5 |
H4 clustered histone 5 |
|
IAGP |
|
HPO |
|
OMIM:619950 |
NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021
|
|
G |
HECW2 |
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 |
|
IAGP |
|
HPO |
|
OMIM:617268 |
NCBI chr 2:196,194,072...196,593,554
Ensembl chr 2:196,189,099...196,593,684
|
|
G |
HEY2 |
hes related family bHLH transcription factor with YRPW motif 2 |
|
IAGP |
|
HPO |
|
ORPHA:91387 |
NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269
|
|
G |
HNRNPK |
heterogeneous nuclear ribonucleoprotein K |
|
IAGP |
|
HPO |
|
ORPHA:352665 ORPHA:453504 |
NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631
|
|
G |
IFT122 |
intraflagellar transport 122 |
|
IAGP |
|
HPO |
|
OMIM:218330 |
NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
|
|
G |
INTU |
inturned planar cell polarity protein |
|
IAGP |
|
HPO |
|
OMIM:617926 |
NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737
|
|
G |
IPO8 |
importin 8 |
|
IAGP |
|
HPO |
|
OMIM:619472 |
NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
|
|
G |
KCNK9 |
potassium two pore domain channel subfamily K member 9 |
|
IAGP |
|
HPO |
|
ORPHA:166108 |
NCBI chr 8:139,600,838...139,703,123
Ensembl chr 8:139,600,838...139,704,109
|
|
G |
KIF26A |
kinesin family member 26A |
|
IAGP |
|
HPO |
|
OMIM:620156 |
NCBI chr14:104,138,587...104,180,894
Ensembl chr14:104,136,454...104,180,894
|
|
G |
KLHL41 |
kelch like family member 41 |
|
IAGP |
|
HPO |
|
ORPHA:171433 |
NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258
|
|
G |
LOX |
lysyl oxidase |
|
IAGP |
|
HPO |
|
ORPHA:91387 |
NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413
|
|
G |
LRP12 |
LDL receptor related protein 12 |
|
IAGP |
|
HPO |
|
ORPHA:98897 |
NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258
|
|
G |
LRP4 |
LDL receptor related protein 4 |
|
IAGP |
|
HPO |
|
ORPHA:3258 |
NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642
|
|
G |
MAP2K1 |
mitogen-activated protein kinase kinase 1 |
|
IAGP |
|
HPO |
|
OMIM:163950 |
NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
|
|
G |
MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
|
IAGP |
|
HPO |
|
ORPHA:3238 |
NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
|
|
G |
MAPK1 |
mitogen-activated protein kinase 1 |
|
IAGP |
|
HPO |
|
ORPHA:261330 |
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
|
|
G |
MARS1 |
methionyl-tRNA synthetase 1 |
|
IAGP |
|
HPO |
|
OMIM:619692 |
NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569
|
|
G |
MAT2A |
methionine adenosyltransferase 2A |
|
IAGP |
|
HPO |
|
ORPHA:91387 |
NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281
|
|
G |
MCM3AP |
minichromosome maintenance complex component 3 associated protein |
|
IAGP |
|
HPO |
|
OMIM:618124 |
NCBI chr21:46,235,133...46,286,265
Ensembl chr21:46,235,133...46,286,297
|
|
G |
MED12L |
mediator complex subunit 12L |
|
IAGP |
|
HPO |
|
OMIM:618872 |
NCBI chr 3:151,085,664...151,436,653
Ensembl chr 3:151,085,286...151,437,072
|
|
G |
MED25 |
mediator complex subunit 25 |
|
IAGP |
|
HPO |
|
ORPHA:464738 |
NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
|
|
G |
MEGF8 |
multiple EGF like domains 8 |
|
IAGP |
|
HPO |
|
OMIM:614976 |
NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769
|
|
G |
MFAP5 |
microfibril associated protein 5 |
|
IAGP |
|
HPO |
|
ORPHA:91387 |
NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888
|
|
G |
MPLKIP |
M-phase specific PLK1 interacting protein |
|
IAGP |
|
HPO |
|
ORPHA:33364 |
NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622
|
|
G |
MUSK |
muscle associated receptor tyrosine kinase |
|
IAGP |
|
HPO |
|
OMIM:208150 |
NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558
|
|
G |
MYH11 |
myosin heavy chain 11 |
|
IAGP |
|
HPO |
|
ORPHA:91387 |
NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028
|
|
G |
MYLK |
myosin light chain kinase |
|
IAGP |
|
HPO |
|
ORPHA:91387 |
NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332
|
|
G |
MYMX |
myomixer, myoblast fusion factor |
|
IAGP |
|
HPO |
|
OMIM:619941 |
NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,234
|
|
G |
NAA10 |
N-alpha-acetyltransferase 10, NatA catalytic subunit |
|
IAGP |
|
HPO |
|
OMIM:309800 ORPHA:276432 |
NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080
|
|
G |
NDUFAF6 |
NADH:ubiquinone oxidoreductase complex assembly factor 6 |
|
IAGP |
|
HPO |
|
OMIM:618239 |
NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,533...95,116,455
|
|
G |
NEB |
nebulin |
|
IAGP |
|
HPO |
|
ORPHA:171433 |
NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487
|
|
G |
NFIX |
nuclear factor I X |
|
IAGP |
ClinVar Annotator: match by term: High, narrow palate |
ClinVar |
PMID:25741868 |
|
NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
|
|
G |
NIPBL |
NIPBL cohesin loading factor |
|
IAGP |
|
HPO |
|
OMIM:122470 |
NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
|
|
G |
NONO |
non-POU domain containing octamer binding |
|
IAGP |
|
HPO |
|
OMIM:300967 ORPHA:466791 |
NCBI chr X:71,283,635...71,301,168
Ensembl chr X:71,254,814...71,301,522
|
|
G |
NOTCH2NLC |
notch 2 N-terminal like C |
|
IAGP |
|
HPO |
|
ORPHA:98897 |
NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833
|
|
G |
NOTCH3 |
notch receptor 3 |
|
IAGP |
|
HPO |
|
ORPHA:2789 |
NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
|
|
G |
NSD1 |
nuclear receptor binding SET domain protein 1 |
|
IAGP |
|
HPO |
|
OMIM:117550 |
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
|
|
G |
ORC1 |
origin recognition complex subunit 1 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423
|
|
G |
ORC4 |
origin recognition complex subunit 4 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604
|
|
G |
ORC6 |
origin recognition complex subunit 6 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394
|
|
G |
PCDHGC4 |
protocadherin gamma subfamily C, 4 |
|
IAGP |
|
HPO |
|
OMIM:619880 |
NCBI chr 5:141,485,030...141,512,975
Ensembl chr 5:141,484,997...141,512,975
|
|
G |
PCLO |
piccolo presynaptic cytomatrix protein |
|
IAGP |
|
HPO |
|
OMIM:608027 |
NCBI chr 7:82,754,012...83,162,884
Ensembl chr 7:82,754,012...83,162,930
|
|
G |
PEX1 |
peroxisomal biogenesis factor 1 |
|
IAGP |
|
HPO |
|
OMIM:214100 |
NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
|
|
G |
PEX5 |
peroxisomal biogenesis factor 5 |
|
IAGP |
|
HPO |
|
OMIM:202370 |
NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
|
|
G |
PIEZO2 |
piezo type mechanosensitive ion channel component 2 |
|
IAGP |
|
HPO |
|
OMIM:248700 |
NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
|
|
G |
PIGT |
phosphatidylinositol glycan anchor biosynthesis class T |
|
IAGP |
|
HPO |
|
ORPHA:369837 |
NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934
|
|
G |
PLOD1 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
|
IAGP |
|
HPO |
|
ORPHA:1900 |
NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
|
|
G |
POR |
cytochrome p450 oxidoreductase |
|
IAGP |
|
HPO |
|
ORPHA:95699 |
NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
|
|
G |
PRKG1 |
protein kinase cGMP-dependent 1 |
|
IAGP |
|
HPO |
|
ORPHA:91387 |
NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423
|
|
G |
PTDSS1 |
phosphatidylserine synthase 1 |
|
IAGP |
|
HPO |
|
ORPHA:2658 |
NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
|
|
G |
PTEN |
phosphatase and tensin homolog |
|
IAGP |
|
HPO |
|
ORPHA:79076 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
|
|
G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
|
IAGP |
|
HPO |
|
OMIM:163950 |
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
|
|
G |
RECQL4 |
RecQ like helicase 4 |
|
IAGP |
|
HPO |
|
OMIM:266280 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
|
|
G |
RET |
ret proto-oncogene |
|
IAGP |
|
HPO |
|
OMIM:162300 |
NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
|
|
G |
RILPL1 |
Rab interacting lysosomal protein like 1 |
|
IAGP |
|
HPO |
|
ORPHA:98897 |
NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719
|
|
G |
RNF113A |
ring finger protein 113A |
|
IAGP |
|
HPO |
|
ORPHA:33364 |
NCBI chr X:119,870,475...119,871,733
Ensembl chr X:119,870,475...119,871,733
|
|
G |
RUNX2 |
RUNX family transcription factor 2 |
|
IAGP |
|
HPO |
|
OMIM:119600 ORPHA:1452 |
NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
|
|
G |
SCARF2 |
scavenger receptor class F member 2 |
|
IAGP |
|
HPO |
|
OMIM:600920 |
NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826
|
|
G |
SIN3A |
SIN3 transcription regulator family member A |
|
IAGP |
|
HPO |
|
OMIM:613406 |
NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
|
|
G |
SKI |
SKI proto-oncogene |
|
IAGP |
|
HPO |
|
ORPHA:2462 |
NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
|
|
G |
SLC25A12 |
solute carrier family 25 member 12 |
|
IAGP |
|
HPO |
|
OMIM:612949 |
NCBI chr 2:171,783,405...171,894,244
Ensembl chr 2:171,783,405...171,999,859
|
|
G |
SLC25A24 |
solute carrier family 25 member 24 |
|
IAGP |
|
HPO |
|
OMIM:612289 |
NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
|
|
G |
SLC6A17 |
solute carrier family 6 member 17 |
|
IAGP |
|
HPO |
|
ORPHA:457212 |
NCBI chr 1:110,150,494...110,202,202
Ensembl chr 1:110,150,494...110,202,202
|
|
G |
SMAD2 |
SMAD family member 2 |
|
IAGP |
|
HPO |
|
ORPHA:91387 |
NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
|
|
G |
SMAD3 |
SMAD family member 3 |
|
IAGP |
|
HPO |
|
ORPHA:91387 |
NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
|
|
G |
SMAD4 |
SMAD family member 4 |
|
IAGP |
|
HPO |
|
ORPHA:91387 |
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
|
|
G |
SMARCA2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
|
IAGP |
|
HPO |
|
OMIM:601358 ORPHA:3051 |
NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624
|
|
G |
SMG9 |
SMG9 nonsense mediated mRNA decay factor |
|
IAGP |
|
HPO |
|
OMIM:616920 |
NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962
|
|
G |
SMS |
spermine synthase |
|
IAGP |
|
HPO |
|
OMIM:309583 |
NCBI chr X:21,940,709...21,994,837
Ensembl chr X:21,940,709...21,994,837
|
|
G |
SPEN |
spen family transcriptional repressor |
|
IAGP |
|
HPO |
|
OMIM:619312 |
NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
|
|
G |
SPRED2 |
sprouty related EVH1 domain containing 2 |
|
IAGP |
|
HPO |
|
OMIM:619745 |
NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637
|
|
G |
SPTBN1 |
spectrin beta, non-erythrocytic 1 |
|
IAGP |
|
HPO |
|
OMIM:619475 |
NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446
|
|
G |
TAF1 |
TATA-box binding protein associated factor 1 |
|
IAGP |
|
HPO |
|
OMIM:300966 |
NCBI chr X:71,366,357...71,530,525
Ensembl chr X:71,366,222...71,532,374
|
|
G |
TAOK1 |
TAO kinase 1 |
|
IAGP |
|
HPO |
|
OMIM:619575 |
NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,363...29,551,903
|
|
G |
TARS1 |
threonyl-tRNA synthetase 1 |
|
IAGP |
|
HPO |
|
ORPHA:33364 |
NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091
|
|
G |
TBCK |
TBC1 domain containing kinase |
|
IAGP |
|
HPO |
|
ORPHA:488632 |
NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683
|
|
G |
TBX1 |
T-box transcription factor 1 |
|
IAGP |
|
HPO |
|
OMIM:188400 |
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
|
|
G |
TCTN3 |
tectonic family member 3 |
|
IAGP |
|
HPO |
|
ORPHA:2753 |
NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
|
|
G |
TGFB2 |
transforming growth factor beta 2 |
|
IAGP |
|
HPO |
|
OMIM:614816 ORPHA:91387 |
NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
|
|
G |
TGFB3 |
transforming growth factor beta 3 |
|
IAGP |
|
HPO |
|
ORPHA:91387 |
NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
|
|
G |
TGFBR1 |
transforming growth factor beta receptor 1 |
|
IAGP |
|
HPO |
|
ORPHA:91387 |
NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192
|
|
G |
TGFBR2 |
transforming growth factor beta receptor 2 |
|
IAGP |
|
HPO |
|
ORPHA:91387 |
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142
|
|
G |
THSD4 |
thrombospondin type 1 domain containing 4 |
|
IAGP |
|
HPO |
|
ORPHA:91387 |
NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383
|
|
G |
TPM3 |
tropomyosin 3 |
|
IAGP |
|
HPO |
|
ORPHA:171433 |
NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648
|
|
G |
UBE3B |
ubiquitin protein ligase E3B |
|
IAGP |
|
HPO |
|
ORPHA:2707 |
NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705
|
|
G |
UFC1 |
ubiquitin-fold modifier conjugating enzyme 1 |
|
IAGP |
|
HPO |
|
OMIM:618076 |
NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856
|
|
G |
VAC14 |
VAC14 component of PIKFYVE complex |
|
IAGP |
|
HPO |
|
ORPHA:3472 |
NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160
|
|
G |
VPS13B |
vacuolar protein sorting 13 homolog B |
|
IAGP |
|
HPO |
|
OMIM:216550 ORPHA:193 |
NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
|
|
G |
VPS35L |
VPS35 endosomal protein sorting factor like |
|
IAGP |
|
HPO |
|
ORPHA:7 |
NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793
|
|
G |
WASHC5 |
WASH complex subunit 5 |
|
IAGP |
|
HPO |
|
ORPHA:7 |
NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
|
|
G |
WNT5A |
Wnt family member 5A |
|
IAGP |
|
HPO |
|
ORPHA:3107 |
NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
|
|
G |
WNT7A |
Wnt family member 7A |
|
IAGP |
|
HPO |
|
ORPHA:2879 |
NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
|
|
|
G |
AEBP1 |
AE binding protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:536532 |
NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562
|
|
|
G |
ALX3 |
ALX homeobox 3 |
|
IAGP |
|
HPO |
|
OMIM:136760 |
NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672
|
|
G |
ATP6V1E1 |
ATPase H+ transporting V1 subunit E1 |
|
IAGP |
|
HPO |
|
OMIM:617402 |
NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749
|
|
G |
CILK1 |
ciliogenesis associated kinase 1 |
|
IAGP |
|
HPO |
|
OMIM:612651 |
NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824
|
|
G |
DVL1 |
dishevelled segment polarity protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:3107 |
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
|
|
G |
DVL3 |
dishevelled segment polarity protein 3 |
|
IAGP |
|
HPO |
|
ORPHA:3107 |
NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
|
|
G |
EPG5 |
ectopic P-granules 5 autophagy tethering factor |
|
IAGP |
|
HPO |
|
OMIM:242840 |
NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329
|
|
G |
FAM20C |
FAM20C golgi associated secretory pathway kinase |
|
IAGP |
|
HPO |
|
ORPHA:1832 |
NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772
|
|
G |
FOXA2 |
forkhead box A2 |
|
IAGP |
|
HPO |
|
ORPHA:95494 |
NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455
|
|
G |
FZD2 |
frizzled class receptor 2 |
|
IAGP |
|
HPO |
|
ORPHA:3107 |
NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
|
|
G |
GLI2 |
GLI family zinc finger 2 |
|
IAGP |
|
HPO |
|
ORPHA:95494 |
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
|
|
G |
HESX1 |
HESX homeobox 1 |
|
IAGP |
|
HPO |
|
ORPHA:95494 |
NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
|
|
G |
LBR |
lamin B receptor |
|
IAGP |
|
HPO |
|
OMIM:169400 |
NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
|
|
G |
LHX4 |
LIM homeobox 4 |
|
IAGP |
|
HPO |
|
ORPHA:95494 |
NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
|
|
G |
NUAK2 |
NUAK family kinase 2 |
|
IAGP |
|
HPO |
|
OMIM:619452 |
NCBI chr 1:205,302,063...205,321,745
Ensembl chr 1:205,302,063...205,321,745
|
|
G |
OTX2 |
orthodenticle homeobox 2 |
|
IAGP |
|
HPO |
|
ORPHA:95494 |
NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
|
|
G |
PITX1 |
paired like homeodomain 1 |
|
IAGP |
|
HPO |
|
OMIM:119800 |
NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813
|
|
G |
POU1F1 |
POU class 1 homeobox 1 |
|
IAGP |
|
HPO |
|
ORPHA:95494 |
NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
|
|
G |
PROP1 |
PROP paired-like homeobox 1 |
|
IAGP |
|
HPO |
|
ORPHA:95494 |
NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242
|
|
G |
PTCH1 |
patched 1 |
|
IAGP |
|
HPO |
|
OMIM:610828 |
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
|
|
G |
SIX3 |
SIX homeobox 3 |
|
IAGP |
|
HPO |
|
OMIM:157170 |
NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
|
|
G |
SLC2A10 |
solute carrier family 2 member 10 |
|
IAGP |
|
HPO |
|
ORPHA:3342 |
NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347
|
|
G |
STAG2 |
STAG2 cohesin complex component |
|
IAGP |
|
HPO |
|
OMIM:301043 |
NCBI chr X:123,960,560...124,102,656
Ensembl chr X:123,960,212...124,422,664
|
|
G |
TGIF1 |
TGFB induced factor homeobox 1 |
|
IAGP |
|
HPO |
|
OMIM:142946 |
NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
|
|
G |
TWIST1 |
twist family bHLH transcription factor 1 |
|
IAGP |
|
HPO |
|
OMIM:617746 |
NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
|
|
G |
WNT5A |
Wnt family member 5A |
|
IAGP |
|
HPO |
|
ORPHA:3107 |
NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
|
|
G |
ZSWIM6 |
zinc finger SWIM-type containing 6 |
|
IAGP |
|
HPO |
|
ORPHA:1827 |
NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172
|
|
|
G |
ADAMTS10 |
ADAM metallopeptidase with thrombospondin type 1 motif 10 |
|
IAGP |
|
HPO |
|
OMIM:277600 |
NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735
|
|
G |
AEBP1 |
AE binding protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:536532 |
NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562
|
|
G |
APC2 |
APC regulator of WNT signaling pathway 2 |
|
IAGP |
|
HPO |
|
OMIM:617169 |
NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
|
|
G |
ASXL1 |
ASXL transcriptional regulator 1 |
|
IAGP |
|
HPO |
|
OMIM:605039 |
NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
|
|
G |
ATP6V1B2 |
ATPase H+ transporting V1 subunit B2 |
|
IAGP |
|
HPO |
|
ORPHA:79500 |
NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819
|
|
G |
BRCA1 |
BRCA1 DNA repair associated |
|
IAGP |
|
HPO |
|
OMIM:617883 |
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
|
|
G |
CCBE1 |
collagen and calcium binding EGF domains 1 |
|
IAGP |
|
HPO |
|
OMIM:235510 |
NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662
|
|
G |
CNTNAP1 |
contactin associated protein 1 |
|
IAGP |
|
HPO |
|
OMIM:618186 |
NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993
|
|
G |
CPT2 |
carnitine palmitoyltransferase 2 |
|
IAGP |
|
HPO |
|
OMIM:608836 |
NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
|
|
G |
CREBBP |
CREB binding protein |
|
IAGP |
|
HPO |
|
OMIM:180849 ORPHA:353277 ORPHA:353281 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
|
|
G |
CTSK |
cathepsin K |
|
IAGP |
|
HPO |
|
OMIM:265800 |
NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577
|
|
G |
DPYSL5 |
dihydropyrimidinase like 5 |
|
IAGP |
|
HPO |
|
OMIM:619435 |
NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351
|
|
G |
DVL1 |
dishevelled segment polarity protein 1 |
|
IAGP |
|
HPO |
|
OMIM:180700 |
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
|
|
G |
ELMO2 |
engulfment and cell motility 2 |
|
IAGP |
|
HPO |
|
ORPHA:3019 |
NCBI chr20:46,366,050...46,406,615
Ensembl chr20:46,366,050...46,432,985
|
|
G |
EP300 |
E1A binding protein p300 |
|
IAGP |
|
HPO |
|
OMIM:180849 OMIM:613684 ORPHA:353284 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
|
|
G |
ERF |
ETS2 repressor factor |
|
IAGP |
|
HPO |
|
ORPHA:207 |
NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128
|
|
G |
FBN1 |
fibrillin 1 |
|
IAGP |
|
HPO |
|
OMIM:154700 OMIM:608328 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
|
|
G |
FGFR2 |
fibroblast growth factor receptor 2 |
|
IAGP |
|
HPO |
|
OMIM:101200 OMIM:101400 OMIM:123790 ORPHA:1555 ORPHA:207 ORPHA:794 ORPHA:87 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
|
|
G |
FGFR3 |
fibroblast growth factor receptor 3 |
|
IAGP |
|
HPO |
|
ORPHA:794 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
|
|
G |
FLNA |
filamin A |
|
IAGP |
|
HPO |
|
ORPHA:555877 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
|
|
G |
GPC3 |
glypican 3 |
|
IAGP |
|
HPO |
|
OMIM:312870 |
NCBI chr X:133,535,745...133,985,594
Ensembl chr X:133,535,745...133,987,100
|
|
G |
GPC4 |
glypican 4 |
|
IAGP |
|
HPO |
|
OMIM:312870 |
NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489
|
|
G |
GRIA3 |
glutamate ionotropic receptor AMPA type subunit 3 |
|
IAGP |
|
HPO |
|
ORPHA:364028 |
NCBI chr X:123,184,278...123,490,915
Ensembl chr X:123,184,153...123,490,915
|
|
G |
HECTD4 |
HECT domain E3 ubiquitin protein ligase 4 |
|
IAGP |
|
HPO |
|
OMIM:620250 |
NCBI chr12:112,160,195...112,382,431
Ensembl chr12:112,160,188...112,382,439
|
|
G |
HERC2 |
HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
|
IAGP |
|
HPO |
|
OMIM:615516 |
NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179
|
|
G |
HRAS |
HRas proto-oncogene, GTPase |
|
IAGP |
|
HPO |
|
ORPHA:3071 |
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
|
|
G |
IL11RA |
interleukin 11 receptor subunit alpha |
|
IAGP |
|
HPO |
|
OMIM:614188 |
NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902
|
|
G |
KANSL1 |
KAT8 regulatory NSL complex subunit 1 |
|
IAGP |
|
HPO |
|
OMIM:610443 |
NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
|
|
G |
MADD |
MAP kinase activating death domain |
|
IAGP |
|
HPO |
|
OMIM:619004 |
NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031
|
|
G |
MED12 |
mediator complex subunit 12 |
|
IAGP |
|
HPO |
|
OMIM:305450 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
|
|
G |
MEGF8 |
multiple EGF like domains 8 |
|
IAGP |
|
HPO |
|
OMIM:614976 |
NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769
|
|
G |
MESD |
mesoderm development LRP chaperone |
|
IAGP |
|
HPO |
|
OMIM:618644 |
NCBI chr15:80,946,289...80,989,819
Ensembl chr15:80,946,289...80,989,828
|
|
G |
NAA10 |
N-alpha-acetyltransferase 10, NatA catalytic subunit |
|
IAGP |
|
HPO |
|
OMIM:300855 |
NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080
|
|
G |
NEK9 |
NIMA related kinase 9 |
|
IAGP |
|
HPO |
|
OMIM:617022 |
NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344
|
|
G |
NEUROG1 |
neurogenin 1 |
|
IAGP |
|
HPO |
|
OMIM:620469 |
NCBI chr 5:135,534,282...135,535,964
Ensembl chr 5:135,534,282...135,535,964
|
|
G |
NOTCH1 |
notch receptor 1 |
|
IAGP |
ClinVar Annotator: match by term: Narrow palate |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
|
|
G |
NSD1 |
nuclear receptor binding SET domain protein 1 |
|
IAGP |
|
HPO |
|
OMIM:117550 |
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
|
|
G |
OCRL |
OCRL inositol polyphosphate-5-phosphatase |
|
IAGP |
|
HPO |
|
ORPHA:534 |
NCBI chr X:129,540,259...129,592,556
Ensembl chr X:129,539,849...129,592,561
|
|
G |
PRUNE1 |
prune exopolyphosphatase 1 |
|
IAGP |
|
HPO |
|
OMIM:617481 |
NCBI chr 1:151,008,449...151,035,713
Ensembl chr 1:151,008,420...151,035,713
|
|
G |
PTEN |
phosphatase and tensin homolog |
|
IAGP |
|
HPO |
|
ORPHA:109 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
|
|
G |
RAB18 |
RAB18, member RAS oncogene family |
|
IAGP |
|
HPO |
|
OMIM:614222 |
NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,543,207
|
|
G |
RARS2 |
arginyl-tRNA synthetase 2, mitochondrial |
|
IAGP |
|
HPO |
|
OMIM:611523 |
NCBI chr 6:87,513,938...87,589,987
Ensembl chr 6:87,513,459...87,590,028
|
|
G |
RPS6KA3 |
ribosomal protein S6 kinase A3 |
|
IAGP |
|
HPO |
|
OMIM:303600 ORPHA:192 |
NCBI chr X:20,149,911...20,267,097
Ensembl chr X:20,149,911...20,267,519
|
|
G |
RUNX2 |
RUNX family transcription factor 2 |
|
IAGP |
|
HPO |
|
OMIM:119600 |
NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
|
|
G |
SCNM1 |
sodium channel modifier 1 |
|
IAGP |
|
HPO |
|
OMIM:620107 |
NCBI chr 1:151,166,144...151,170,296
Ensembl chr 1:151,156,664...151,170,296
|
|
G |
SETBP1 |
SET binding protein 1 |
|
IAGP |
|
HPO |
|
OMIM:616078 |
NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
|
|
G |
SH3BP2 |
SH3 domain binding protein 2 |
|
IAGP |
|
HPO |
|
OMIM:118400 |
NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,071...2,841,098
|
|
G |
SKI |
SKI proto-oncogene |
|
IAGP |
|
HPO |
|
OMIM:182212 |
NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
|
|
G |
SLC25A12 |
solute carrier family 25 member 12 |
|
IAGP |
|
HPO |
|
OMIM:612949 |
NCBI chr 2:171,783,405...171,894,244
Ensembl chr 2:171,783,405...171,999,859
|
|
G |
SLC25A46 |
solute carrier family 25 member 46 |
|
IAGP |
|
HPO |
|
OMIM:616505 |
NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161
|
|
G |
SLC35C1 |
solute carrier family 35 member C1 |
|
IAGP |
|
HPO |
|
ORPHA:99843 |
NCBI chr11:45,804,072...45,813,016
Ensembl chr11:45,804,072...45,813,016
|
|
G |
SOX5 |
SRY-box transcription factor 5 |
|
IAGP |
|
HPO |
|
ORPHA:313892 |
NCBI chr12:23,529,504...24,562,650
Ensembl chr12:23,529,504...24,562,544
|
|
G |
TBC1D24 |
TBC1 domain family member 24 |
|
IAGP |
|
HPO |
|
ORPHA:79500 |
NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560
|
|
G |
TBX2 |
T-box transcription factor 2 |
|
IAGP |
|
HPO |
|
OMIM:618223 |
NCBI chr17:61,399,843...61,409,466
Ensembl chr17:61,399,843...61,409,466
|
|
G |
TECR |
trans-2,3-enoyl-CoA reductase |
|
IAGP |
|
HPO |
|
OMIM:614020 |
NCBI chr19:14,527,726...14,565,980
Ensembl chr19:14,517,085...14,565,980
|
|
G |
TRPS1 |
transcriptional repressor GATA binding 1 |
|
IAGP |
|
HPO |
|
OMIM:190350 |
NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
|
|
G |
TWIST1 |
twist family bHLH transcription factor 1 |
|
IAGP |
|
HPO |
|
OMIM:101400 ORPHA:794 |
NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
|
|
G |
WNT5A |
Wnt family member 5A |
|
IAGP |
|
HPO |
|
OMIM:180700 |
NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
|
|
G |
WNT7A |
Wnt family member 7A |
|
IAGP |
|
HPO |
|
OMIM:276820 |
NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
|
|
|
G |
ARHGAP29 |
Rho GTPase activating protein 29 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068
|
|
G |
ARHGEF38 |
Rho guanine nucleotide exchange factor 38 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093
|
|
G |
BMP4 |
bone morphogenetic protein 4 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
|
|
G |
CDH1 |
cadherin 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
|
|
G |
COBLL1 |
cordon-bleu WH2 repeat protein like 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679
|
|
G |
DLG1 |
discs large MAGUK scaffold protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
|
|
G |
DLX4 |
distal-less homeobox 4 |
|
IAGP |
|
HPO |
|
OMIM:616788 ORPHA:199306 |
NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959
|
|
G |
IRF6 |
interferon regulatory factor 6 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
|
|
G |
MSX1 |
msh homeobox 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
|
|
G |
NECTIN1 |
nectin cell adhesion molecule 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
|
|
G |
PDGFRA |
platelet derived growth factor receptor alpha |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
|
|
G |
RIC1 |
RIC1 homolog, RAB6A GEF complex partner 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557
|
|
G |
TP63 |
tumor protein p63 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
|
|
|
G |
ACVRL1 |
activin A receptor like type 1 |
|
IAGP |
|
HPO |
|
OMIM:600376 |
NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
|
|
G |
ENG |
endoglin |
|
IAGP |
|
HPO |
|
OMIM:187300 |
NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,815,013...127,854,658
|
|
|
G |
SHH |
sonic hedgehog signaling molecule |
|
IAGP |
|
HPO |
|
OMIM:147250 |
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
|
|
G |
TBL1XR1 |
TBL1X/Y related 1 |
|
IAGP |
|
HPO |
|
OMIM:602342 |
NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000
|
|
|
G |
ASXL1 |
ASXL transcriptional regulator 1 |
|
IAGP |
|
HPO |
|
ORPHA:97297 |
NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
|
|
G |
KIF7 |
kinesin family member 7 |
|
IAGP |
|
HPO |
|
OMIM:200990 |
NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
|
|
G |
PIGN |
phosphatidylinositol glycan anchor biosynthesis class N |
|
IAGP |
|
HPO |
|
ORPHA:280633 |
NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118
|
|
G |
SIX2 |
SIX homeobox 2 |
|
IAGP |
|
HPO |
|
ORPHA:488437 |
NCBI chr 2:45,005,182...45,009,452
Ensembl chr 2:45,005,182...45,009,452
|
|
|
G |
DVL1 |
dishevelled segment polarity protein 1 |
|
IAGP |
|
HPO |
|
OMIM:180700 |
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
|
|
G |
GLI2 |
GLI family zinc finger 2 |
|
IAGP |
|
HPO |
|
OMIM:610829 |
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
|
|
G |
SNRPB |
small nuclear ribonucleoprotein polypeptides B and B1 |
|
IAGP |
|
HPO |
|
OMIM:117650 ORPHA:1393 |
NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
|
|
G |
WNT5A |
Wnt family member 5A |
|
IAGP |
|
HPO |
|
OMIM:180700 |
NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
|
|
|
G |
PRR12 |
proline rich 12 |
|
IAGP |
|
HPO |
|
OMIM:619539 |
NCBI chr19:49,591,182...49,626,439
Ensembl chr19:49,591,182...49,626,439
|
|
G |
SPTBN1 |
spectrin beta, non-erythrocytic 1 |
|
IAGP |
|
HPO |
|
OMIM:619475 |
NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446
|
|
G |
WDR35 |
WD repeat domain 35 |
|
IAGP |
|
HPO |
|
OMIM:614091 |
NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
|
|
|
G |
AMER1 |
APC membrane recruitment protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:2780 |
NCBI chr X:64,185,117...64,205,708
Ensembl chr X:64,185,117...64,205,708
|
|
G |
AMMECR1 |
AMMECR nuclear protein 1 |
|
IAGP |
|
HPO |
|
OMIM:300990 |
NCBI chr X:110,194,186...110,440,233
Ensembl chr X:110,194,186...110,440,318
|
|
G |
B3GALNT2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452
|
|
G |
B4GAT1 |
beta-1,4-glucuronyltransferase 1 |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629
|
|
G |
BCOR |
BCL6 corepressor |
|
IAGP |
|
HPO |
|
OMIM:300166 ORPHA:2712 |
NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329
|
|
G |
BICRA |
BRD4 interacting chromatin remodeling complex associated protein |
|
IAGP |
|
HPO |
|
OMIM:619325 |
NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277
|
|
G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
|
IAGP |
|
HPO |
|
OMIM:115150 ORPHA:1340 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
|
|
G |
CARS1 |
cysteinyl-tRNA synthetase 1 |
|
IAGP |
|
HPO |
|
OMIM:618891 |
NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613
|
|
G |
CDC45 |
cell division cycle 45 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612
|
|
G |
CDC6 |
cell division cycle 6 |
|
IAGP |
|
HPO |
|
OMIM:613805 ORPHA:2554 |
NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657
|
|
G |
CDH11 |
cadherin 11 |
|
IAGP |
|
HPO |
|
ORPHA:1299 |
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
|
|
G |
CDT1 |
chromatin licensing and DNA replication factor 1 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258
|
|
G |
COL2A1 |
collagen type II alpha 1 chain |
|
IAGP |
|
HPO |
|
OMIM:108300 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
|
|
G |
COL4A1 |
collagen type IV alpha 1 chain |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157
|
|
G |
CRPPA |
CDP-L-ribitol pyrophosphorylase A |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
|
|
G |
CUL3 |
cullin 3 |
|
IAGP |
|
HPO |
|
OMIM:619239 |
NCBI chr 2:224,470,150...224,585,363
Ensembl chr 2:224,470,150...224,585,397
|
|
G |
DAG1 |
dystroglycan 1 |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618
|
|
G |
DGCR2 |
DiGeorge syndrome critical region gene 2 |
|
IAGP |
|
HPO |
|
OMIM:192430 |
NCBI chr22:19,036,286...19,122,412
Ensembl chr22:19,036,282...19,122,454
|
|
G |
DGCR6 |
DiGeorge syndrome critical region gene 6 |
|
IAGP |
|
HPO |
|
OMIM:192430 |
NCBI chr22:18,906,223...18,912,088
Ensembl chr22:18,906,028...18,914,238
|
|
G |
DGCR8 |
DGCR8 microprocessor complex subunit |
|
IAGP |
|
HPO |
|
OMIM:192430 |
NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,221...20,111,877
|
|
G |
DHCR24 |
24-dehydrocholesterol reductase |
|
IAGP |
|
HPO |
|
ORPHA:35107 |
NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
|
|
G |
ESS2 |
ess-2 splicing factor homolog |
|
IAGP |
|
HPO |
|
OMIM:192430 |
NCBI chr22:19,130,279...19,144,651
Ensembl chr22:19,130,279...19,144,684
|
|
G |
FKRP |
fukutin related protein |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
|
|
G |
FKTN |
fukutin |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820
|
|
G |
FOXP2 |
forkhead box P2 |
|
IAGP |
|
HPO |
|
ORPHA:209908 |
NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772
|
|
G |
GDF11 |
growth differentiation factor 11 |
|
IAGP |
|
HPO |
|
OMIM:619122 |
NCBI chr12:55,743,122...55,757,264
Ensembl chr12:55,743,122...55,757,264
|
|
G |
GMNN |
geminin DNA replication inhibitor |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
|
|
G |
GNPAT |
glyceronephosphate O-acyltransferase |
|
IAGP |
|
HPO |
|
OMIM:222765 |
NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,207...231,277,973
|
|
G |
HAAO |
3-hydroxyanthranilate 3,4-dioxygenase |
|
IAGP |
|
HPO |
|
OMIM:617660 |
NCBI chr 2:42,767,089...42,792,583
Ensembl chr 2:42,767,089...42,792,593
|
|
G |
HS2ST1 |
heparan sulfate 2-O-sulfotransferase 1 |
|
IAGP |
|
HPO |
|
OMIM:619194 |
NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982
|
|
G |
HYAL1 |
hyaluronidase 1 |
|
IAGP |
|
HPO |
|
OMIM:601492 |
NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381
|
|
G |
HYLS1 |
HYLS1 centriolar and ciliogenesis associated |
|
IAGP |
|
HPO |
|
ORPHA:2189 |
NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
|
|
G |
KAT5 |
lysine acetyltransferase 5 |
|
IAGP |
|
HPO |
|
OMIM:619103 |
NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604
|
|
G |
KAT6B |
lysine acetyltransferase 6B |
|
IAGP |
|
HPO |
|
ORPHA:3047 |
NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
|
|
G |
KIF7 |
kinesin family member 7 |
|
IAGP |
|
HPO |
|
ORPHA:2189 |
NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
|
|
G |
KRAS |
KRAS proto-oncogene, GTPase |
|
IAGP |
|
HPO |
|
ORPHA:1340 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
|
|
G |
LARGE1 |
LARGE xylosyl- and glucuronyltransferase 1 |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
|
|
G |
LIG4 |
DNA ligase 4 |
|
IAGP |
|
HPO |
|
ORPHA:235 |
NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
|
|
G |
LMNA |
lamin A/C |
|
IAGP |
|
HPO |
|
ORPHA:1662 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
|
|
G |
MAP2K1 |
mitogen-activated protein kinase kinase 1 |
|
IAGP |
|
HPO |
|
ORPHA:1340 |
NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
|
|
G |
MAP2K2 |
mitogen-activated protein kinase kinase 2 |
|
IAGP |
|
HPO |
|
ORPHA:1340 |
NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122
|
|
G |
NSUN2 |
NOP2/Sun RNA methyltransferase 2 |
|
IAGP |
|
HPO |
|
ORPHA:235 |
NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
|
|
G |
ORC1 |
origin recognition complex subunit 1 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423
|
|
G |
ORC4 |
origin recognition complex subunit 4 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604
|
|
G |
ORC6 |
origin recognition complex subunit 6 |
|
IAGP |
|
HPO |
|
ORPHA:2554 |
NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394
|
|
G |
PIEZO2 |
piezo type mechanosensitive ion channel component 2 |
|
IAGP |
|
HPO |
|
OMIM:114300 ORPHA:2461 |
NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
|
|
G |
POMGNT1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305
|
|
G |
POMGNT2 |
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085
|
|
G |
POMK |
protein O-mannose kinase |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180
|
|
G |
POMT1 |
protein O-mannosyltransferase 1 |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
|
|
G |
POMT2 |
protein O-mannosyltransferase 2 |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
|
|
G |
PPP2R5D |
protein phosphatase 2 regulatory subunit B'delta |
|
IAGP |
|
HPO |
|
ORPHA:457279 |
NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342
|
|
G |
PRKAR1B |
protein kinase cAMP-dependent type I regulatory subunit beta |
|
IAGP |
|
HPO |
|
OMIM:619680 |
NCBI chr 7:549,197...728,934
Ensembl chr 7:549,197...727,650
|
|
G |
PRR12 |
proline rich 12 |
|
IAGP |
|
HPO |
|
OMIM:619539 |
NCBI chr19:49,591,182...49,626,439
Ensembl chr19:49,591,182...49,626,439
|
|
G |
PTDSS1 |
phosphatidylserine synthase 1 |
|
IAGP |
|
HPO |
|
ORPHA:2658 |
NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
|
|
G |
RAD21 |
RAD21 cohesin complex component |
|
IAGP |
|
HPO |
|
OMIM:614701 |
NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
|
|
G |
RNU4ATAC |
RNA, U4atac small nuclear |
|
IAGP |
|
HPO |
|
ORPHA:2636 |
NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
|
|
G |
RPS23 |
ribosomal protein S23 |
|
IAGP |
|
HPO |
|
OMIM:617412 |
NCBI chr 5:82,273,320...82,278,354
Ensembl chr 5:82,273,320...82,278,396
|
|
G |
RXYLT1 |
ribitol xylosyltransferase 1 |
|
IAGP |
|
HPO |
|
ORPHA:899 |
NCBI chr12:63,779,909...63,809,562
Ensembl chr12:63,779,833...63,809,792
|
|
G |
SET |
SET nuclear proto-oncogene |
|
IAGP |
|
HPO |
|
OMIM:618106 |
NCBI chr 9:128,683,424...128,696,396
Ensembl chr 9:128,683,424...128,696,400
|
|
G |
SIAH1 |
siah E3 ubiquitin protein ligase 1 |
|
IAGP |
|
HPO |
|
OMIM:619314 |
NCBI chr16:48,360,531...48,387,246
Ensembl chr16:48,356,364...48,448,402
|
|
G |
SIX3 |
SIX homeobox 3 |
|
IAGP |
|
HPO |
|
OMIM:157170 |
NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
|
|
G |
SMAD4 |
SMAD family member 4 |
|
IAGP |
|
HPO |
|
ORPHA:2588 |
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
|
|
G |
SMCHD1 |
structural maintenance of chromosomes flexible hinge domain containing 1 |
|
IAGP |
|
HPO |
|
ORPHA:2250 |
NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017
|
|
G |
SON |
SON DNA and RNA binding protein |
|
IAGP |
|
HPO |
|
OMIM:617140 |
NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
|
|
G |
SOX6 |
SRY-box transcription factor 6 |
|
IAGP |
|
HPO |
|
OMIM:618971 |
NCBI chr11:15,966,449...16,738,477
Ensembl chr11:15,966,449...16,739,591
|
|
G |
SOX9 |
SRY-box transcription factor 9 |
|
IAGP |
|
HPO |
|
OMIM:114290 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
|
|
G |
STAG2 |
STAG2 cohesin complex component |
|
IAGP |
|
HPO |
|
OMIM:301043 |
NCBI chr X:123,960,560...124,102,656
Ensembl chr X:123,960,212...124,422,664
|
|
G |
TBX1 |
T-box transcription factor 1 |
|
IAGP |
|
HPO |
|
OMIM:192430 |
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
|
|
G |
TCTN3 |
tectonic family member 3 |
|
IAGP |
|
HPO |
|
ORPHA:2753 |
NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
|
|
G |
WBP11 |
WW domain binding protein 11 |
|
IAGP |
|
HPO |
|
OMIM:619227 |
NCBI chr12:14,784,582...14,803,478
Ensembl chr12:14,784,582...14,803,486
|
|
G |
ZEB2 |
zinc finger E-box binding homeobox 2 |
|
IAGP |
|
HPO |
|
OMIM:235730 |
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
|
|
G |
ZMPSTE24 |
zinc metallopeptidase STE24 |
|
IAGP |
|
HPO |
|
OMIM:275210 ORPHA:1662 |
NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
|
|
|
G |
STAG2 |
STAG2 cohesin complex component |
|
IAGP |
|
HPO |
|
OMIM:301022 |
NCBI chr X:123,960,560...124,102,656
Ensembl chr X:123,960,212...124,422,664
|
|
G |
ZEB2 |
zinc finger E-box binding homeobox 2 |
|
IAGP |
|
HPO |
|
ORPHA:261537 ORPHA:261552 |
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
|
|
|
G |
FOXI3 |
forkhead box I3 |
|
IAGP |
|
HPO |
|
OMIM:620444 |
NCBI chr 2:88,446,787...88,452,693
Ensembl chr 2:88,446,787...88,452,693
|
|
|
G |
GRHL3 |
grainyhead like transcription factor 3 |
|
IAGP |
|
HPO |
|
ORPHA:99771 |
NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482
|
|
G |
IPO8 |
importin 8 |
|
IAGP |
|
HPO |
|
OMIM:619472 |
NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
|
|
G |
KCNK9 |
potassium two pore domain channel subfamily K member 9 |
|
IAGP |
|
HPO |
|
OMIM:612292 |
NCBI chr 8:139,600,838...139,703,123
Ensembl chr 8:139,600,838...139,704,109
|
|
G |
NEK1 |
NIMA related kinase 1 |
|
IAGP |
|
HPO |
|
ORPHA:2751 |
NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
|
|
G |
NONO |
non-POU domain containing octamer binding |
|
IAGP |
|
HPO |
|
OMIM:300967 |
NCBI chr X:71,283,635...71,301,168
Ensembl chr X:71,254,814...71,301,522
|
|
G |
POLR3A |
RNA polymerase III subunit A |
|
IAGP |
|
HPO |
|
ORPHA:3455 |
NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
|
|
G |
SON |
SON DNA and RNA binding protein |
|
IAGP |
|
HPO |
|
ORPHA:500150 |
NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
|
|
G |
STAC3 |
SH3 and cysteine rich domain 3 |
|
IAGP |
|
HPO |
|
ORPHA:168572 |
NCBI chr12:57,243,458...57,251,187
Ensembl chr12:57,243,453...57,251,188
|
|
G |
TP63 |
tumor protein p63 |
|
IAGP |
|
HPO |
|
ORPHA:69085 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
|
|
G |
UBB |
ubiquitin B |
|
IAGP |
|
HPO |
|
ORPHA:99771 |
NCBI chr17:16,380,779...16,382,745
Ensembl chr17:16,380,798...16,382,745
|
|
|
G |
LRP5 |
LDL receptor related protein 5 |
|
IAGP |
|
HPO |
|
OMIM:144750 OMIM:607634 ORPHA:2790 |
NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275
|
|
G |
PRR12 |
proline rich 12 |
|
IAGP |
|
HPO |
|
OMIM:619539 |
NCBI chr19:49,591,182...49,626,439
Ensembl chr19:49,591,182...49,626,439
|
|
G |
SHH |
sonic hedgehog signaling molecule |
|
IAGP |
|
HPO |
|
OMIM:147250 |
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
|
|
G |
ZBTB20 |
zinc finger and BTB domain containing 20 |
|
IAGP |
|
HPO |
|
OMIM:259050 |
NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292
|
|
|
G |
ARHGAP29 |
Rho GTPase activating protein 29 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068
|
|
G |
ARHGEF38 |
Rho guanine nucleotide exchange factor 38 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093
|
|
G |
ASXL1 |
ASXL transcriptional regulator 1 |
|
IAGP |
|
HPO |
|
OMIM:605039 |
NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
|
|
G |
BMP4 |
bone morphogenetic protein 4 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
|
|
G |
CDH1 |
cadherin 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
|
|
G |
CDH11 |
cadherin 11 |
|
IAGP |
|
HPO |
|
ORPHA:1299 |
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
|
|
G |
COBLL1 |
cordon-bleu WH2 repeat protein like 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679
|
|
G |
DLG1 |
discs large MAGUK scaffold protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
|
|
G |
DLX4 |
distal-less homeobox 4 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959
|
|
G |
GDF11 |
growth differentiation factor 11 |
|
IAGP |
|
HPO |
|
OMIM:619122 |
NCBI chr12:55,743,122...55,757,264
Ensembl chr12:55,743,122...55,757,264
|
|
G |
IRF6 |
interferon regulatory factor 6 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
|
|
G |
KAT5 |
lysine acetyltransferase 5 |
|
IAGP |
|
HPO |
|
OMIM:619103 |
NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604
|
|
G |
MED12 |
mediator complex subunit 12 |
|
IAGP |
|
HPO |
|
OMIM:301068 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
|
|
G |
MSX1 |
msh homeobox 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
|
|
G |
NECTIN1 |
nectin cell adhesion molecule 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
|
|
G |
PDGFRA |
platelet derived growth factor receptor alpha |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
|
|
G |
PTCH1 |
patched 1 |
|
IAGP |
|
HPO |
|
OMIM:610828 |
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
|
|
G |
RIC1 |
RIC1 homolog, RAB6A GEF complex partner 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557
|
|
G |
SUMO1 |
small ubiquitin like modifier 1 |
|
IAGP |
|
HPO |
|
OMIM:613705 |
NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
|
|
G |
TP63 |
tumor protein p63 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
|
|
|
G |
ARHGAP29 |
Rho GTPase activating protein 29 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068
|
|
G |
ARHGEF38 |
Rho guanine nucleotide exchange factor 38 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093
|
|
G |
BICRA |
BRD4 interacting chromatin remodeling complex associated protein |
|
IAGP |
|
HPO |
|
OMIM:619325 |
NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277
|
|
G |
BMP4 |
bone morphogenetic protein 4 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
|
|
G |
CDH1 |
cadherin 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
|
|
G |
COBLL1 |
cordon-bleu WH2 repeat protein like 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679
|
|
G |
DGCR2 |
DiGeorge syndrome critical region gene 2 |
|
IAGP |
|
HPO |
|
OMIM:192430 |
NCBI chr22:19,036,286...19,122,412
Ensembl chr22:19,036,282...19,122,454
|
|
G |
DGCR6 |
DiGeorge syndrome critical region gene 6 |
|
IAGP |
|
HPO |
|
OMIM:192430 |
NCBI chr22:18,906,223...18,912,088
Ensembl chr22:18,906,028...18,914,238
|
|
G |
DGCR8 |
DGCR8 microprocessor complex subunit |
|
IAGP |
|
HPO |
|
OMIM:192430 |
NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,221...20,111,877
|
|
G |
DLG1 |
discs large MAGUK scaffold protein 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
|
|
G |
DLX4 |
distal-less homeobox 4 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959
|
|
G |
ESS2 |
ess-2 splicing factor homolog |
|
IAGP |
|
HPO |
|
OMIM:192430 |
NCBI chr22:19,130,279...19,144,651
Ensembl chr22:19,130,279...19,144,684
|
|
G |
GRHL3 |
grainyhead like transcription factor 3 |
|
IAGP |
|
HPO |
|
ORPHA:99772 |
NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482
|
|
G |
IRF6 |
interferon regulatory factor 6 |
|
IAGP |
|
HPO |
|
ORPHA:199302 ORPHA:199306 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
|
|
G |
MSX1 |
msh homeobox 1 |
|
IAGP |
|
HPO |
|
ORPHA:199302 ORPHA:199306 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
|
|
G |
MYMX |
myomixer, myoblast fusion factor |
|
IAGP |
|
HPO |
|
OMIM:619941 |
NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,234
|
|
G |
NECTIN1 |
nectin cell adhesion molecule 1 |
|
IAGP |
|
HPO |
|
ORPHA:199302 ORPHA:199306 |
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
|
|
G |
NEK1 |
NIMA related kinase 1 |
|
IAGP |
|
HPO |
|
ORPHA:2751 |
NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
|
|
G |
PDGFRA |
platelet derived growth factor receptor alpha |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
|
|
G |
RAD21 |
RAD21 cohesin complex component |
|
IAGP |
|
HPO |
|
OMIM:614701 |
NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
|
|
G |
RAI1 |
retinoic acid induced 1 |
|
IAGP |
|
HPO |
|
OMIM:182290 |
NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
|
|
G |
RIC1 |
RIC1 homolog, RAB6A GEF complex partner 1 |
|
IAGP |
|
HPO |
|
ORPHA:199306 |
NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557
|
|
G |
RLIM |
ring finger protein, LIM domain interacting |
|
IAGP |
|
HPO |
|
OMIM:300978 |
NCBI chr X:74,582,976...74,614,624
Ensembl chr X:74,582,976...74,614,624
|
|
G |
SF3B4 |
splicing factor 3b subunit 4 |
|
IAGP |
|
HPO |
|
OMIM:154400 |
NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803
|
|
G |
SIAH1 |
siah E3 ubiquitin protein ligase 1 |
|
IAGP |
|
HPO |
|
OMIM:619314 |
NCBI chr16:48,360,531...48,387,246
Ensembl chr16:48,356,364...48,448,402
|
|
G |
TBX1 |
T-box transcription factor 1 |
|
IAGP |
DNA:frameshift mutation:CDS:p.Y4188fsX459 |
HPO RGD |
PMID:24637876 |
OMIM:192430, RGD:155641255 |
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
|
|
G |
THOC6 |
THO complex subunit 6 |
|
IAGP |
|
HPO |
|
OMIM:613680 ORPHA:363444 |
NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755
|
|
G |
TP63 |
tumor protein p63 |
|
IAGP |
|
HPO |
|
OMIM:129400 ORPHA:199302 ORPHA:199306 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
|
|
G |
TUBB6 |
tubulin beta 6 class V |
|
IAGP |
|
HPO |
|
OMIM:617732 |
NCBI chr18:12,307,669...12,329,826
Ensembl chr18:12,307,669...12,344,320
|
|
G |
TWIST1 |
twist family bHLH transcription factor 1 |
|
IAGP |
|
HPO |
|
OMIM:617746 |
NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
|
|
G |
TWIST2 |
twist family bHLH transcription factor 2 |
|
IAGP |
|
HPO |
|
OMIM:209885 |
NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534
|
|
G |
UBB |
ubiquitin B |
|
IAGP |
|
HPO |
|
ORPHA:99772 |
NCBI chr17:16,380,779...16,382,745
Ensembl chr17:16,380,798...16,382,745
|
|
Term paths to the root
|