GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 AND See cases

Clinical significance:Pathogenic (Last evaluated: Apr 30, 2011)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000135321.3

Allele description [Variation Report for GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1]

GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1

Genes:
  • ALAS2:5'-aminolevulinate synthase 2 [Gene - OMIM - HGNC]
  • HTR2C:5-hydroxytryptamine receptor 2C [Gene - OMIM - HGNC]
  • PFKFB1:6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 [Gene - OMIM - HGNC]
  • ARAF:A-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
  • AKAP14:A-kinase anchoring protein 14 [Gene - OMIM - HGNC]
  • AKAP17A:A-kinase anchoring protein 17A [Gene - OMIM - OMIM - HGNC]
  • AKAP4:A-kinase anchoring protein 4 [Gene - OMIM - HGNC]
  • ARL13A:ADP ribosylation factor like GTPase 13A [Gene - HGNC]
  • AFF2:AF4/FMR2 family member 2 [Gene - OMIM - HGNC]
  • LOC108663984:ALAS2 intron 1 and 3 erythroid regulatory elements [Gene]
  • LOC108511947:ALAS2 intronic erythroid enhancer [Gene]
  • ALG13:ALG13 UDP-N-acetylglucosaminyltransferase subunit [Gene - OMIM - HGNC]
  • AMMECR1:AMMECR nuclear protein 1 [Gene - OMIM - HGNC]
  • AMER1:APC membrane recruitment protein 1 [Gene - OMIM - HGNC]
  • ARHGEF9-IT1:ARHGEF9 intronic transcript 1 [Gene - HGNC]
  • ARMCX3-AS1:ARMCX3 antisense RNA 1 [Gene - HGNC]
  • ARMCX5-GPRASP2:ARMCX5-GPRASP2 readthrough [Gene - HGNC]
  • ARSD-AS1:ARSD antisense RNA 1 [Gene - HGNC]
  • ASMTL-AS1:ASMTL antisense RNA 1 [Gene - HGNC]
  • ABCB7:ATP binding cassette subfamily B member 7 [Gene - OMIM - HGNC]
  • ABCD1:ATP binding cassette subfamily D member 1 [Gene - OMIM - HGNC]
  • ATP6AP1:ATPase H+ transporting accessory protein 1 [Gene - OMIM - HGNC]
  • ATP6AP2:ATPase H+ transporting accessory protein 2 [Gene - OMIM - HGNC]
  • ATP1B4:ATPase Na+/K+ transporting family member beta 4 [Gene - HGNC]
  • ATP7A:ATPase copper transporting alpha [Gene - OMIM - HGNC]
  • ATP11C:ATPase phospholipid transporting 11C [Gene - OMIM - HGNC]
  • ATP2B3:ATPase plasma membrane Ca2+ transporting 3 [Gene - OMIM - HGNC]
  • ATRX:ATRX chromatin remodeler [Gene - OMIM - HGNC]
  • BCAP31:B cell receptor associated protein 31 [Gene - OMIM - HGNC]
  • BCORL1:BCL6 corepressor like 1 [Gene - OMIM - HGNC]
  • BCOR:BCL6 corepressor [Gene - OMIM - HGNC]
  • BCLAF3:BCLAF1 and THRAP3 family member 3 [Gene - HGNC]
  • BEND2:BEN domain containing 2 [Gene - HGNC]
  • BMX:BMX non-receptor tyrosine kinase [Gene - OMIM - HGNC]
  • BRCC3:BRCA1/BRCA2-containing complex subunit 3 [Gene - OMIM - HGNC]
  • BTK:Bruton tyrosine kinase [Gene - OMIM - HGNC]
  • CXCR3:C-X-C motif chemokine receptor 3 [Gene - OMIM - HGNC]
  • CMC4:C-X9-C motif containing 4 [Gene - HGNC]
  • C1GALT1C1:C1GALT1 specific chaperone 1 [Gene - OMIM - HGNC]
  • CA5BP1-CA5B:CA5BP1-CA5B readthrough [Gene]
  • CD40LG:CD40 ligand [Gene - OMIM - HGNC]
  • CD99:CD99 molecule (Xg blood group) [Gene - OMIM - OMIM - HGNC]
  • CD99L2:CD99 molecule like 2 [Gene - OMIM - HGNC]
  • CHM:CHM Rab escort protein [Gene - OMIM - HGNC]
  • CNE-2:CNE-2 enhancer upstream of SHOX [Gene]
  • CNE-3:CNE-3 enhancer upstream of SHOX [Gene]
  • CNE-5:CNE-5 enhancer upstream of SHOX [Gene]
  • CNE4:CNE4 enhancer downstream of SHOX [Gene]
  • CNE5:CNE5 enhancer downstream of SHOX [Gene]
  • CNE6:CNE6 enhancer downstream of SHOX [Gene]
  • CNE7:CNE7 enhancer downstream of SHOX [Gene]
  • CNE8:CNE8 enhancer downstream of SHOX [Gene]
  • CNE9:CNE9 enhancer downstream of SHOX [Gene]
  • CPXCR1:CPX chromosome region candidate 1 [Gene - HGNC]
  • CSAG2:CSAG family member 2 [Gene - HGNC]
  • CSAG3:CSAG family member 3 [Gene - HGNC]
  • CTPS2:CTP synthase 2 [Gene - OMIM - HGNC]
  • CBLL2:Cbl proto-oncogene like 2 [Gene - HGNC]
  • CITED1:Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 [Gene - OMIM - HGNC]
  • ARHGEF9:Cdc42 guanine nucleotide exchange factor 9 [Gene - OMIM - HGNC]
  • DCAF12L1:DDB1 and CUL4 associated factor 12 like 1 [Gene - HGNC]
  • DCAF12L2:DDB1 and CUL4 associated factor 12 like 2 [Gene - HGNC]
  • DCAF8L1:DDB1 and CUL4 associated factor 8 like 1 [Gene - HGNC]
  • DCAF8L2:DDB1 and CUL4 associated factor 8 like 2 [Gene - HGNC]
  • DDX3X:DEAD-box helicase 3 X-linked [Gene - OMIM - HGNC]
  • DDX53:DEAD-box helicase 53 [Gene - HGNC]
  • DIAPH2-AS1:DIAPH2 antisense RNA 1 [Gene - OMIM - HGNC]
  • DLG3-AS1:DLG3 antisense RNA 1 [Gene - HGNC]
  • DMRTC1:DMRT like family C1 [Gene - OMIM - HGNC]
  • DMRTC1B:DMRT like family C1B [Gene - HGNC]
  • POLA1:DNA polymerase alpha 1, catalytic subunit [Gene - OMIM - HGNC]
  • DANT1:DXZ4 associated non-coding transcript 1, proximal [Gene - OMIM - HGNC]
  • DANT2:DXZ4 associated non-coding transcript 2, distal [Gene - OMIM - HGNC]
  • ELF4:E74 like ETS transcription factor 4 [Gene - OMIM - HGNC]
  • EBP:EBP cholestenol delta-isomerase [Gene - OMIM - HGNC]
  • EFHC2:EF-hand domain containing 2 [Gene - OMIM - HGNC]
  • EGFL6:EGF like domain multiple 6 [Gene - OMIM - HGNC]
  • EIF1AX-AS1:EIF1AX antisense RNA 1 [Gene - HGNC]
  • ERCC6L:ERCC excision repair 6 like, spindle assembly checkpoint helicase [Gene - OMIM - HGNC]
  • ERAS:ES cell expressed Ras [Gene - OMIM - HGNC]
  • ESX1:ESX homeobox 1 [Gene - OMIM - HGNC]
  • ELK1:ETS transcription factor ELK1 [Gene - OMIM - HGNC]
  • EZHIP:EZH inhibitory protein [Gene - HGNC]
  • FANCB:FA complementation group B [Gene - OMIM - HGNC]
  • FRMPD3:FERM and PDZ domain containing 3 [Gene - OMIM - HGNC]
  • FRMPD4:FERM and PDZ domain containing 4 [Gene - OMIM - HGNC]
  • FRMD7:FERM domain containing 7 [Gene - OMIM - HGNC]
  • FGF13-AS1:FGF13 antisense RNA 1 [Gene - HGNC]
  • FMR1-AS1:FMR1 antisense RNA 1 [Gene - OMIM - HGNC]
  • FMR1NB:FMR1 neighbor [Gene - HGNC]
  • FMR1:FMRP translational regulator 1 [Gene - OMIM - HGNC]
  • FLICR:FOXP3 regulating long intergenic non-coding RNA [Gene - HGNC]
  • LOC108684022:FRAXA repeat instability region [Gene]
  • LOC109461475:FRAXE repeat instability region [Gene]
  • LOC109396974:FRAXF repeat instability region [Gene]
  • FRMPD3-AS1:FRMPD3 antisense RNA 1 [Gene - HGNC]
  • FTX:FTX transcript, XIST regulator [Gene - OMIM - HGNC]
  • FUNDC1:FUN14 domain containing 1 [Gene - OMIM - HGNC]
  • FUNDC2:FUN14 domain containing 2 [Gene - HGNC]
  • FGD1:FYVE, RhoGEF and PH domain containing 1 [Gene - OMIM - HGNC]
  • FTSJ1:FtsJ RNA 2'-O-methyltransferase 1 [Gene - OMIM - HGNC]
  • GAGE10:G antigen 10 [Gene - OMIM - HGNC]
  • GAGE12B:G antigen 12B [Gene - HGNC]
  • GAGE12C:G antigen 12C [Gene - OMIM - HGNC]
  • GAGE12D:G antigen 12D [Gene - OMIM - HGNC]
  • GAGE12E:G antigen 12E [Gene - OMIM - HGNC]
  • GAGE12F:G antigen 12F [Gene - OMIM - HGNC]
  • GAGE12G:G antigen 12G [Gene - OMIM - HGNC]
  • GAGE12H:G antigen 12H [Gene - OMIM - HGNC]
  • GAGE12I:G antigen 12I [Gene - OMIM - HGNC]
  • GAGE12J:G antigen 12J [Gene - OMIM - HGNC]
  • GAGE13:G antigen 13 [Gene - OMIM - HGNC]
  • GAGE1:G antigen 1 [Gene - OMIM - HGNC]
  • GAGE2A:G antigen 2A [Gene - OMIM - HGNC]
  • GAGE2B:G antigen 2B [Gene - OMIM - HGNC]
  • GAGE2C:G antigen 2C [Gene - OMIM - HGNC]
  • GAGE2D:G antigen 2D [Gene - OMIM - HGNC]
  • GAGE2E:G antigen 2E [Gene - OMIM - HGNC]
  • GAGE8:G antigen 8 [Gene - OMIM - HGNC]
  • GNL3L:G protein nucleolar 3 like [Gene - OMIM - HGNC]
  • GPR101:G protein-coupled receptor 101 [Gene - OMIM - HGNC]
  • GPR119:G protein-coupled receptor 119 [Gene - OMIM - HGNC]
  • GPR143:G protein-coupled receptor 143 [Gene - OMIM - HGNC]
  • GPR173:G protein-coupled receptor 173 [Gene - OMIM - HGNC]
  • GPR174:G protein-coupled receptor 174 [Gene - OMIM - HGNC]
  • GPR34:G protein-coupled receptor 34 [Gene - OMIM - HGNC]
  • GPR50:G protein-coupled receptor 50 [Gene - OMIM - HGNC]
  • GPR82:G protein-coupled receptor 82 [Gene - OMIM - HGNC]
  • GPRASP1:G protein-coupled receptor associated sorting protein 1 [Gene - OMIM - HGNC]
  • GPRASP2:G protein-coupled receptor associated sorting protein 2 [Gene - OMIM - HGNC]
  • GPKOW:G-patch domain and KOW motifs [Gene - OMIM - HGNC]
  • GSPT2:G1 to S phase transition 2 [Gene - OMIM - HGNC]
  • LOC108281126:G6PD and IKBKG intron CAGE-defined low expression enhancer [Gene]
  • GATA1:GATA binding protein 1 [Gene - OMIM - HGNC]
  • LOC111464987:GATA motif-containing MPRA enhancer 234 [Gene]
  • GDI1:GDP dissociation inhibitor 1 [Gene - OMIM - HGNC]
  • GPC3-AS1:GPC3 antisense RNA 1 [Gene - HGNC]
  • GPR50-AS1:GPR50 antisense RNA 1 [Gene - HGNC]
  • GAB3:GRB2 associated binding protein 3 [Gene - OMIM - HGNC]
  • GRIPAP1:GRIP1 associated protein 1 [Gene - OMIM - HGNC]
  • GTPBP6:GTP binding protein 6 (putative) [Gene - OMIM - HGNC]
  • H2AB1:H2A.B variant histone 1 [Gene - HGNC]
  • H2AB2:H2A.B variant histone 2 [Gene - HGNC]
  • H2AB3:H2A.B variant histone 3 [Gene - OMIM - HGNC]
  • H2AP:H2A.P histone [Gene - HGNC]
  • H2BW1:H2B.W histone 1 [Gene - OMIM - HGNC]
  • H2BW2:H2B.W histone 2 [Gene - HGNC]
  • HAUS7:HAUS augmin like complex subunit 7 [Gene - OMIM - HGNC]
  • HCFC1-AS1:HCFC1 antisense RNA 1 [Gene - HGNC]
  • HUWE1:HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • HTATSF1:HIV-1 Tat specific factor 1 [Gene - OMIM - HGNC]
  • LOC111365174:HNF1 motif-containing MPRA enhancer 3 [Gene]
  • LOC111365226:HNF4 motif-containing MPRA enhancer 122 [Gene]
  • LOC111589209:HNF4 motif-containing MPRA enhancer 232 [Gene]
  • HS6ST2-AS1:HS6ST2 antisense RNA 1 [Gene - HGNC]
  • LOC106050102:IDS recombination region [Gene]
  • LOC106050103:IDSP1 recombination region [Gene]
  • LOC107988022:IKBKG downstream recombination region [Gene]
  • LOC107988021:IKBKG recombination region [Gene]
  • LOC107988024:IKBKGP1 recombination region [Gene]
  • LOC107988025:IKBKGP1 upstream recombination region [Gene]
  • INTS6L-AS1:INTS6L antisense RNA 1 [Gene - HGNC]
  • IQSEC2:IQ motif and Sec7 domain ArfGEF 2 [Gene - OMIM - HGNC]
  • JPX:JPX transcript, XIST activator [Gene - OMIM - HGNC]
  • KANTR:KDM5C adjacent transcript [Gene - OMIM - HGNC]
  • KIAA1210:KIAA1210 [Gene - OMIM - HGNC]
  • KRBOX4:KRAB box domain containing 4 [Gene - OMIM - HGNC]
  • KLF8:Kruppel like factor 8 [Gene - OMIM - HGNC]
  • LAGE3:L antigen family member 3 [Gene - OMIM - HGNC]
  • L1CAM:L1 cell adhesion molecule [Gene - OMIM - HGNC]
  • LAS1L:LAS1 like ribosome biogenesis factor [Gene - OMIM - HGNC]
  • LDOC1:LDOC1 regulator of NFKB signaling [Gene - OMIM - HGNC]
  • LHFPL1:LHFPL tetraspan subfamily member 1 [Gene - OMIM - HGNC]
  • LONRF3:LON peptidase N-terminal domain and ring finger 3 [Gene - HGNC]
  • LANCL3:LanC like 3 [Gene - HGNC]
  • MAGEA10:MAGE family member A10 [Gene - OMIM - HGNC]
  • MAGEA11:MAGE family member A11 [Gene - OMIM - HGNC]
  • MAGEA12:MAGE family member A12 [Gene - OMIM - HGNC]
  • MAGEA1:MAGE family member A1 [Gene - OMIM - HGNC]
  • MAGEA2:MAGE family member A2 [Gene - OMIM - HGNC]
  • MAGEA2B:MAGE family member A2B [Gene - OMIM - HGNC]
  • MAGEA3:MAGE family member A3 [Gene - OMIM - HGNC]
  • MAGEA4:MAGE family member A4 [Gene - OMIM - HGNC]
  • MAGEA5:MAGE family member A5 [Gene - OMIM - HGNC]
  • MAGEA6:MAGE family member A6 [Gene - OMIM - HGNC]
  • MAGEA8:MAGE family member A8 [Gene - OMIM - HGNC]
  • MAGEA9:MAGE family member A9 [Gene - OMIM - HGNC]
  • MAGEA9B:MAGE family member A9B [Gene - OMIM - HGNC]
  • MAGEB10:MAGE family member B10 [Gene - OMIM - HGNC]
  • MAGEB16:MAGE family member B16 [Gene - OMIM - HGNC]
  • MAGEB17:MAGE family member B17 [Gene - OMIM - HGNC]
  • MAGEB18:MAGE family member B18 [Gene - HGNC]
  • MAGEB1:MAGE family member B1 [Gene - OMIM - HGNC]
  • MAGEB2:MAGE family member B2 [Gene - OMIM - HGNC]
  • MAGEB3:MAGE family member B3 [Gene - OMIM - HGNC]
  • MAGEB4:MAGE family member B4 [Gene - OMIM - HGNC]
  • MAGEB5:MAGE family member B5 [Gene - OMIM - HGNC]
  • MAGEB6:MAGE family member B6 [Gene - OMIM - HGNC]
  • MAGEC1:MAGE family member C1 [Gene - OMIM - HGNC]
  • MAGEC2:MAGE family member C2 [Gene - OMIM - HGNC]
  • MAGEC3:MAGE family member C3 [Gene - OMIM - HGNC]
  • MAGED1:MAGE family member D1 [Gene - OMIM - HGNC]
  • MAGED2:MAGE family member D2 [Gene - OMIM - HGNC]
  • MAGED4:MAGE family member D4 [Gene - OMIM - HGNC]
  • MAGED4B:MAGE family member D4B [Gene - OMIM - HGNC]
  • MAGEE1:MAGE family member E1 [Gene - OMIM - HGNC]
  • MAGEE2:MAGE family member E2 [Gene - OMIM - HGNC]
  • MAGEH1:MAGE family member H1 [Gene - OMIM - HGNC]
  • MAGEA10-MAGEA5:MAGEA10-MAGEA5 readthrough [Gene]
  • MAGEA4-AS1:MAGEA4 antisense RNA 1 [Gene - HGNC]
  • MAGEA8-AS1:MAGEA8 antisense RNA 1 [Gene - HGNC]
  • MAGIX:MAGI family member, X-linked [Gene - HGNC]
  • MAP7D2:MAP7 domain containing 2 [Gene - HGNC]
  • MAP7D3:MAP7 domain containing 3 [Gene - OMIM - HGNC]
  • MCF2:MCF.2 cell line derived transforming sequence [Gene - OMIM - HGNC]
  • MCTS1:MCTS1 re-initiation and release factor [Gene - OMIM - HGNC]
  • MED14OS:MED14 opposite strand [Gene - HGNC]
  • MID1IP1:MID1 interacting protein 1 [Gene - OMIM - HGNC]
  • LOC111242786:MID1 promoter D [Gene]
  • MID1IP1-AS1:MID1IP1 antisense RNA 1 [Gene - HGNC]
  • MIR325HG:MIR325 host gene [Gene - HGNC]
  • MIR503HG:MIR503 host gene [Gene - HGNC]
  • MORC4:MORC family CW-type zinc finger 4 [Gene - OMIM - HGNC]
  • MORF4L2-AS1:MORF4L2 antisense RNA 1 [Gene - HGNC]
  • MSL3:MSL complex subunit 3 [Gene - OMIM - HGNC]
  • MTRNR2L10:MT-RNR2 like 10 [Gene - HGNC]
  • NAA10:N(alpha)-acetyltransferase 10, NatA catalytic subunit [Gene - OMIM - HGNC]
  • NSDHL:NAD(P) dependent steroid dehydrogenase-like [Gene - OMIM - HGNC]
  • NDUFA1:NADH:ubiquinone oxidoreductase subunit A1 [Gene - OMIM - HGNC]
  • NDUFB11:NADH:ubiquinone oxidoreductase subunit B11 [Gene - OMIM - HGNC]
  • NOX1:NADPH oxidase 1 [Gene - OMIM - HGNC]
  • NDP-AS1:NDP antisense RNA 1 [Gene - HGNC]
  • LOC111365170:NFE2L2 motif-containing MPRA enhancer 190/191 [Gene]
  • LOC111429618:NFE2L2 motif-containing MPRA enhancer 215 [Gene]
  • LOC111365193:NFE2L2 motif-containing MPRA enhancer 58 [Gene]
  • NKAP:NFKB activating protein [Gene - OMIM - HGNC]
  • NKRF:NFKB repressing factor [Gene - OMIM - HGNC]
  • NHS:NHS actin remodeling regulator [Gene - OMIM - HGNC]
  • NHS-AS1:NHS antisense RNA 1 [Gene - HGNC]
  • NHSL2:NHS like 2 [Gene - HGNC]
  • NLRP2B:NLR family pyrin domain containing 2B [Gene - HGNC]
  • LOC108410393:NR0B1 5' regulatory region [Gene]
  • NRK:Nik related kinase [Gene - OMIM - HGNC]
  • OGT:O-linked N-acetylglucosamine (GlcNAc) transferase [Gene - OMIM - HGNC]
  • OCRL:OCRL inositol polyphosphate-5-phosphatase [Gene - OMIM - HGNC]
  • OFD1:OFD1 centriole and centriolar satellite protein [Gene - OMIM - HGNC]
  • OTUD5:OTU deubiquitinase 5 [Gene - OMIM - HGNC]
  • OTUD6A:OTU deubiquitinase 6A [Gene - OMIM - HGNC]
  • P2RY10:P2Y receptor family member 10 [Gene - OMIM - HGNC]
  • P2RY8:P2Y receptor family member 8 [Gene - OMIM - HGNC]
  • PABPC1L2B-AS1:PABPC1L2B antisense RNA 1 (head to head) [Gene - HGNC]
  • PABPC5-AS1:PABPC5 antisense RNA 1 [Gene - HGNC]
  • PAGE1:PAGE family member 1 [Gene - OMIM - HGNC]
  • PAGE2:PAGE family member 2 [Gene - OMIM - HGNC]
  • PAGE2B:PAGE family member 2B [Gene - HGNC]
  • PAGE3:PAGE family member 3 [Gene - OMIM - HGNC]
  • PAGE4:PAGE family member 4 [Gene - OMIM - HGNC]
  • PAGE5:PAGE family member 5 [Gene - OMIM - HGNC]
  • PASD1:PAS domain containing repressor 1 [Gene - OMIM - HGNC]
  • PCYT1B-AS1:PCYT1B antisense RNA 1 [Gene - HGNC]
  • PDZD11:PDZ domain containing 11 [Gene - OMIM - HGNC]
  • PDZD4:PDZ domain containing 4 [Gene - OMIM - HGNC]
  • PHF6:PHD finger protein 6 [Gene - OMIM - HGNC]
  • PHF8:PHD finger protein 8 [Gene - OMIM - HGNC]
  • PHEX-AS1:PHEX antisense RNA 1 [Gene - HGNC]
  • PHKA1-AS1:PHKA1 antisense RNA 1 [Gene - HGNC]
  • PHKA2-AS1:PHKA2 antisense RNA 1 [Gene - HGNC]
  • PIH1D3:PIH1 domain containing 3 [Gene - OMIM - HGNC]
  • PIR-FIGF:PIR-FIGF readthrough [Gene]
  • PLS3-AS1:PLS3 antisense RNA 1 [Gene - HGNC]
  • PNMA3:PNMA family member 3 [Gene - OMIM - HGNC]
  • PNMA5:PNMA family member 5 [Gene - OMIM - HGNC]
  • PNMA6A:PNMA family member 6A [Gene - OMIM - HGNC]
  • PNMA6E:PNMA family member 6E [Gene - HGNC]
  • PNMA6F:PNMA family member 6F [Gene - HGNC]
  • POF1B:POF1B actin binding protein [Gene - OMIM - HGNC]
  • POU3F4:POU class 3 homeobox 4 [Gene - OMIM - HGNC]
  • PPEF1-AS1:PPEF1 antisense RNA 1 [Gene - HGNC]
  • PPP1R2C:PPP1R2C family member C [Gene - OMIM - HGNC]
  • PRAF2:PRA1 domain family member 2 [Gene - OMIM - HGNC]
  • PRKX-AS1:PRKX antisense RNA 1 [Gene - HGNC]
  • PTCHD1-AS:PTCHD1 antisense RNA (head to head) [Gene - HGNC]
  • PWWP3B:PWWP domain containing 3B [Gene - HGNC]
  • PIM2:Pim-2 proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
  • RAB33A:RAB33A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB39B:RAB39B, member RAS oncogene family [Gene - OMIM - OMIM - HGNC]
  • RAB40AL:RAB40A like [Gene - OMIM - HGNC]
  • RAB40A:RAB40A, member RAS oncogene family [Gene - HGNC]
  • RAB41:RAB41, member RAS oncogene family [Gene - HGNC]
  • RAB9A:RAB9A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB9B:RAB9B, member RAS oncogene family [Gene - OMIM - HGNC]
  • REPS2:RALBP1 associated Eps domain containing 2 [Gene - OMIM - HGNC]
  • RAP2C-AS1:RAP2C antisense RNA 1 [Gene - HGNC]
  • RAP2C:RAP2C, member of RAS oncogene family [Gene - OMIM - HGNC]
  • RBBP7:RB binding protein 7, chromatin remodeling factor [Gene - OMIM - HGNC]
  • RBMXL3:RBMX like 3 [Gene - HGNC]
  • RHOXF1-AS1:RHOXF1 antisense RNA 1 [Gene - HGNC]
  • RIBC1:RIB43A domain with coiled-coils 1 [Gene - HGNC]
  • RBM10:RNA binding motif protein 10 [Gene - OMIM - HGNC]
  • RBM3:RNA binding motif protein 3 [Gene - OMIM - HGNC]
  • RBM41:RNA binding motif protein 41 [Gene - HGNC]
  • RBMX2:RNA binding motif protein X-linked 2 [Gene - HGNC]
  • RBMX:RNA binding motif protein X-linked [Gene - OMIM - HGNC]
  • RP2:RP2 activator of ARL3 GTPase [Gene - OMIM - HGNC]
  • RADX:RPA1 related single stranded DNA binding protein, X-linked [Gene - HGNC]
  • RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
  • ARHGEF6:Rac/Cdc42 guanine nucleotide exchange factor 6 [Gene - OMIM - HGNC]
  • RRAGB:Ras related GTP binding B [Gene - OMIM - HGNC]
  • ARHGAP36:Rho GTPase activating protein 36 [Gene - OMIM - HGNC]
  • ARHGAP4:Rho GTPase activating protein 4 [Gene - OMIM - HGNC]
  • ARHGAP6:Rho GTPase activating protein 6 [Gene - OMIM - HGNC]
  • RHOXF1:Rhox homeobox family member 1 [Gene - OMIM - HGNC]
  • RHOXF2:Rhox homeobox family member 2 [Gene - OMIM - HGNC]
  • RHOXF2B:Rhox homeobox family member 2B [Gene - HGNC]
  • S100G:S100 calcium binding protein G [Gene - OMIM - HGNC]
  • LOC106029241:S232-VCX2 recombination region [Gene]
  • LOC106029240:S232-VCX3A recombination region [Gene]
  • SASH3:SAM and SH3 domain containing 3 [Gene - OMIM - HGNC]
  • SH2D1A:SH2 domain containing 1A [Gene - OMIM - HGNC]
  • SH3BGRL:SH3 domain binding glutamate rich protein like [Gene - OMIM - HGNC]
  • SH3KBP1:SH3 domain containing kinase binding protein 1 [Gene - OMIM - HGNC]
  • LOC108251802:SHOX downstream enhancer, distal recombination region [Gene]
  • LOC108251803:SHOX downstream enhancer, proximal recombination region [Gene]
  • SLC25A5-AS1:SLC25A5 antisense RNA 1 [Gene - HGNC]
  • SLITRK2:SLIT and NTRK like family member 2 [Gene - OMIM - HGNC]
  • SLITRK4:SLIT and NTRK like family member 4 [Gene - OMIM - HGNC]
  • SMIM10L2B-AS1:SMIM10L2B antisense RNA 1 [Gene - HGNC]
  • LOC108281134:SOX3 promoter region [Gene]
  • SPANXA2:SPANX family member A2 [Gene - OMIM - HGNC]
  • SPANXB1:SPANX family member B1 [Gene - OMIM - HGNC]
  • SPANXC:SPANX family member C [Gene - OMIM - HGNC]
  • SPANXD:SPANX family member D [Gene - OMIM - OMIM - HGNC]
  • SPANXN1:SPANX family member N1 [Gene - OMIM - HGNC]
  • SPANXN2:SPANX family member N2 [Gene - OMIM - HGNC]
  • SPANXN3:SPANX family member N3 [Gene - OMIM - HGNC]
  • SPANXN4:SPANX family member N4 [Gene - OMIM - HGNC]
  • SPANXN5:SPANX family member N5 [Gene - OMIM - HGNC]
  • SPANXA2-OT1:SPANXA2 overlapping transcript 1 [Gene - HGNC]
  • SRPK3:SRSF protein kinase 3 [Gene - OMIM - HGNC]
  • SOX3:SRY-box transcription factor 3 [Gene - OMIM - HGNC]
  • SSX1:SSX family member 1 [Gene - OMIM - HGNC]
  • SSX2:SSX family member 2 [Gene - OMIM - HGNC]
  • SSX2B:SSX family member 2B [Gene - HGNC]
  • SSX3:SSX family member 3 [Gene - OMIM - HGNC]
  • SSX4:SSX family member 4 [Gene - OMIM - HGNC]
  • SSX4B:SSX family member 4B [Gene - HGNC]
  • SSX5:SSX family member 5 [Gene - OMIM - HGNC]
  • SSX7:SSX family member 7 [Gene - OMIM - HGNC]
  • SUPT20HL1:SUPT20H like 1 [Gene - HGNC]
  • SUPT20HL2:SUPT20H like 2 [Gene - HGNC]
  • SMARCA1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 [Gene - OMIM - HGNC]
  • SYP-AS1:SYP antisense RNA 1 [Gene - HGNC]
  • SCML1:Scm polycomb group protein like 1 [Gene - OMIM - HGNC]
  • SCML2:Scm polycomb group protein like 2 [Gene - OMIM - HGNC]
  • LOC113875031:Sharpr-MPRA regulatory region 10462 [Gene]
  • LOC113875027:Sharpr-MPRA regulatory region 10799 [Gene]
  • LOC113875021:Sharpr-MPRA regulatory region 11205 [Gene]
  • LOC113875038:Sharpr-MPRA regulatory region 11812 [Gene]
  • LOC113875017:Sharpr-MPRA regulatory region 11823 [Gene]
  • LOC113845788:Sharpr-MPRA regulatory region 11856 [Gene]
  • LOC113875019:Sharpr-MPRA regulatory region 11934 [Gene]
  • LOC113845785:Sharpr-MPRA regulatory region 12400 [Gene]
  • LOC113875015:Sharpr-MPRA regulatory region 12525 [Gene]
  • LOC113875018:Sharpr-MPRA regulatory region 13349 [Gene]
  • LOC113845783:Sharpr-MPRA regulatory region 13392 [Gene]
  • LOC114022706:Sharpr-MPRA regulatory region 13558 [Gene]
  • LOC113875012:Sharpr-MPRA regulatory region 13624 [Gene]
  • LOC113875024:Sharpr-MPRA regulatory region 13807 [Gene]
  • LOC113875008:Sharpr-MPRA regulatory region 13828 [Gene]
  • LOC113875039:Sharpr-MPRA regulatory region 14264 [Gene]
  • LOC113875036:Sharpr-MPRA regulatory region 14511 [Gene]
  • LOC113875009:Sharpr-MPRA regulatory region 14523 [Gene]
  • LOC113875025:Sharpr-MPRA regulatory region 15169 [Gene]
  • LOC114022708:Sharpr-MPRA regulatory region 1584 [Gene]
  • LOC113845784:Sharpr-MPRA regulatory region 2065 [Gene]
  • LOC113875026:Sharpr-MPRA regulatory region 2101 [Gene]
  • LOC113875032:Sharpr-MPRA regulatory region 2669 [Gene]
  • LOC113875022:Sharpr-MPRA regulatory region 3177 [Gene]
  • LOC113875013:Sharpr-MPRA regulatory region 3255 [Gene]
  • LOC113875011:Sharpr-MPRA regulatory region 4069 [Gene]
  • LOC113875035:Sharpr-MPRA regulatory region 4431 [Gene]
  • LOC113845786:Sharpr-MPRA regulatory region 4463 [Gene]
  • LOC113875007:Sharpr-MPRA regulatory region 4549 [Gene]
  • LOC113875006:Sharpr-MPRA regulatory region 4636 [Gene]
  • LOC113875030:Sharpr-MPRA regulatory region 4668 [Gene]
  • LOC113845780:Sharpr-MPRA regulatory region 49 [Gene]
  • LOC113845787:Sharpr-MPRA regulatory region 5043 [Gene]
  • LOC113875037:Sharpr-MPRA regulatory region 5189 [Gene]
  • LOC113875010:Sharpr-MPRA regulatory region 5272 [Gene]
  • LOC113845789:Sharpr-MPRA regulatory region 5588 [Gene]
  • LOC113875033:Sharpr-MPRA regulatory region 5919 [Gene]
  • LOC113845781:Sharpr-MPRA regulatory region 5968 [Gene]
  • LOC113875040:Sharpr-MPRA regulatory region 7028 [Gene]
  • LOC113875028:Sharpr-MPRA regulatory region 7060 [Gene]
  • LOC113875016:Sharpr-MPRA regulatory region 7862 [Gene]
  • LOC113875020:Sharpr-MPRA regulatory region 799 [Gene]
  • LOC113845782:Sharpr-MPRA regulatory region 8383 [Gene]
  • LOC113875029:Sharpr-MPRA regulatory region 8750 [Gene]
  • LOC114022707:Sharpr-MPRA regulatory region 9113 [Gene]
  • LOC114022705:Sharpr-MPRA regulatory region 9216 [Gene]
  • LOC113875014:Sharpr-MPRA regulatory region 9358 [Gene]
  • LOC113875023:Sharpr-MPRA regulatory region 9554 [Gene]
  • LOC113875034:Sharpr-MPRA regulatory region 9838 [Gene]
  • LOC111828531:Sharpr-MPRA regulatory regions 2439 and 5762 [Gene]
  • STARD8:StAR related lipid transfer domain containing 8 [Gene - OMIM - HGNC]
  • TBX22:T-box transcription factor 22 [Gene - OMIM - HGNC]
  • TAB3-AS1:TAB3 antisense RNA 1 [Gene - HGNC]
  • TAF1:TATA-box binding protein associated factor 1 [Gene - OMIM - HGNC]
  • TAF7L:TATA-box binding protein associated factor 7 like [Gene - OMIM - HGNC]
  • TAF9B:TATA-box binding protein associated factor 9b [Gene - OMIM - HGNC]
  • TBC1D25:TBC1 domain family member 25 [Gene - OMIM - HGNC]
  • TBC1D8B:TBC1 domain family member 8B [Gene - OMIM - HGNC]
  • LOC109286564:TBX22 P0 promoter [Gene]
  • TEX13C:TEX13 family member C [Gene - HGNC]
  • TEX13D:TEX13 family member D [Gene - HGNC]
  • TAB3:TGF-beta activated kinase 1 (MAP3K7) binding protein 3 [Gene - OMIM - HGNC]
  • TGIF2LX:TGFB induced factor homeobox 2 like X-linked [Gene - OMIM - HGNC]
  • THOC2:THO complex 2 [Gene - OMIM - HGNC]
  • TIMP1:TIMP metallopeptidase inhibitor 1 [Gene - OMIM - HGNC]
  • TLR8-AS1:TLR8 antisense RNA 1 [Gene - HGNC]
  • TMLHE-AS1:TMLHE antisense RNA 1 [Gene - HGNC]
  • TMSB15B-AS1:TMSB15B antisense RNA 1 [Gene - HGNC]
  • FLJ44635:TPT1-like protein [Gene]
  • TRPC5OS:TRPC5 opposite strand [Gene - HGNC]
  • TSC22D3:TSC22 domain family member 3 [Gene - OMIM - HGNC]
  • TSIX:TSIX transcript, XIST antisense RNA [Gene - OMIM - HGNC]
  • TSPYL2:TSPY like 2 [Gene - OMIM - HGNC]
  • TSR2:TSR2 ribosome maturation factor [Gene - OMIM - HGNC]
  • UPF3B:UPF3B regulator of nonsense mediated mRNA decay [Gene - OMIM - HGNC]
  • USP27X-AS1:USP27X antisense RNA 1 (head to head) [Gene - HGNC]
  • UTP14A:UTP14A small subunit processome component [Gene - OMIM - HGNC]
  • UXT-AS1:UXT antisense RNA 1 [Gene - HGNC]
  • VSIG1:V-set and immunoglobulin domain containing 1 [Gene - OMIM - HGNC]
  • VSIG4:V-set and immunoglobulin domain containing 4 [Gene - OMIM - HGNC]
  • VBP1:VHL binding protein 1 [Gene - OMIM - HGNC]
  • LOC110120592:VISTA enhancer hs118 [Gene]
  • LOC110120593:VISTA enhancer hs119 [Gene]
  • LOC110120594:VISTA enhancer hs121 [Gene]
  • LOC110120595:VISTA enhancer hs122 [Gene]
  • LOC110120596:VISTA enhancer hs123 [Gene]
  • LOC110120597:VISTA enhancer hs145 [Gene]
  • LOC110121198:VISTA enhancer hs1745 [Gene]
  • LOC110121199:VISTA enhancer hs1746 [Gene]
  • LOC110120679:VISTA enhancer hs426 [Gene]
  • LOC110120680:VISTA enhancer hs427 [Gene]
  • LOC110120711:VISTA enhancer hs582 [Gene]
  • LOC110120737:VISTA enhancer hs667 [Gene]
  • LOC110120761:VISTA enhancer hs755 [Gene]
  • WASIR1:WASH and IL9R antisense RNA 1 [Gene - HGNC]
  • WAS:WASP actin nucleation promoting factor [Gene - OMIM - HGNC]
  • WDR13:WD repeat domain 13 [Gene - OMIM - HGNC]
  • WDR44:WD repeat domain 44 [Gene - HGNC]
  • WDR45:WD repeat domain 45 [Gene - OMIM - HGNC]
  • WNK3:WNK lysine deficient protein kinase 3 [Gene - OMIM - HGNC]
  • WWC3:WWC family member 3 [Gene - HGNC]
  • XACT:X active specific transcript [Gene - OMIM - HGNC]
  • XAGE1A:X antigen family member 1A [Gene - OMIM - OMIM - HGNC]
  • XAGE1B:X antigen family member 1B [Gene - OMIM - OMIM - OMIM - HGNC]
  • XAGE2:X antigen family member 2 [Gene - OMIM - HGNC]
  • XAGE3:X antigen family member 3 [Gene - OMIM - HGNC]
  • XAGE5:X antigen family member 5 [Gene - HGNC]
  • XIST:X inactive specific transcript [Gene - OMIM - HGNC]
  • XK:X-linked Kx blood group [Gene - OMIM - HGNC]
  • XIAP:X-linked inhibitor of apoptosis [Gene - OMIM - HGNC]
  • XPNPEP2:X-prolyl aminopeptidase 2 [Gene - OMIM - HGNC]
  • XAGE-4:XAGE-4 protein [Gene]
  • XKRX:XK related X-linked [Gene - OMIM - HGNC]
  • XG:Xg glycoprotein (Xg blood group) [Gene - OMIM - HGNC]
  • LOC107988033:Xq28 distal FLNA-EMD recombination region [Gene]
  • LOC107988032:Xq28 proximal FLNA-EMD recombination region [Gene]
  • YY2:YY2 transcription factor [Gene - OMIM - HGNC]
  • YIPF6:Yip1 domain family member 6 [Gene - OMIM - HGNC]
  • LOC111556151:ZFP161 motif-containing MPRA enhancer 114 [Gene]
  • LOC111365200:ZFP161 motif-containing MPRA enhancer 76/77 [Gene]
  • ZFP92:ZFP92 zinc finger protein [Gene - HGNC]
  • ZFX-AS1:ZFX antisense RNA 1 [Gene - HGNC]
  • ZNF630-AS1:ZNF630 antisense RNA 1 [Gene - HGNC]
  • ZNF674-AS1:ZNF674 antisense RNA 1 (head to head) [Gene - HGNC]
  • ZIC3:Zic family member 3 [Gene - OMIM - HGNC]
  • ASMTL:acetylserotonin O-methyltransferase like [Gene - OMIM - OMIM - HGNC]
  • ASMT:acetylserotonin O-methyltransferase [Gene - OMIM - OMIM - HGNC]
  • ACTRT1:actin related protein T1 [Gene - OMIM - HGNC]
  • ACSL4:acyl-CoA synthetase long chain family member 4 [Gene - OMIM - HGNC]
  • ACOT9:acyl-CoA thioesterase 9 [Gene - OMIM - HGNC]
  • AWAT1:acyl-CoA wax alcohol acyltransferase 1 [Gene - OMIM - HGNC]
  • AWAT2:acyl-CoA wax alcohol acyltransferase 2 [Gene - OMIM - HGNC]
  • AP1S2:adaptor related protein complex 1 subunit sigma 2 [Gene - OMIM - HGNC]
  • ADGRG2:adhesion G protein-coupled receptor G2 [Gene - OMIM - HGNC]
  • ADGRG4:adhesion G protein-coupled receptor G4 [Gene - HGNC]
  • AMELX:amelogenin X-linked [Gene - OMIM - HGNC]
  • LOC109504725:androgen receptor repeat instability region [Gene]
  • AR:androgen receptor [Gene - OMIM - HGNC]
  • AMOT:angiomotin [Gene - OMIM - HGNC]
  • ACE2:angiotensin I converting enzyme 2 [Gene - OMIM - HGNC]
  • AGTR2:angiotensin II receptor type 2 [Gene - OMIM - HGNC]
  • ASB11:ankyrin repeat and SOCS box containing 11 [Gene - OMIM - HGNC]
  • ASB12:ankyrin repeat and SOCS box containing 12 [Gene - OMIM - HGNC]
  • ASB9:ankyrin repeat and SOCS box containing 9 [Gene - OMIM - HGNC]
  • ANOS1:anosmin 1 [Gene - OMIM - HGNC]
  • APLN:apelin [Gene - OMIM - HGNC]
  • APOOL:apolipoprotein O like [Gene - OMIM - HGNC]
  • APOO:apolipoprotein O [Gene - OMIM - HGNC]
  • AIFM1:apoptosis inducing factor mitochondria associated 1 [Gene - OMIM - OMIM - OMIM - HGNC]
  • APEX2:apurinic/apyrimidinic endodeoxyribonuclease 2 [Gene - OMIM - HGNC]
  • AVPR2:arginine vasopressin receptor 2 [Gene - OMIM - HGNC]
  • LOC109610631:aristaless related homeobox polyalanine expansion region [Gene]
  • ARX:aristaless related homeobox [Gene - OMIM - HGNC]
  • ARMCX1:armadillo repeat containing X-linked 1 [Gene - OMIM - HGNC]
  • ARMCX2:armadillo repeat containing X-linked 2 [Gene - OMIM - HGNC]
  • ARMCX3:armadillo repeat containing X-linked 3 [Gene - OMIM - HGNC]
  • ARMCX4:armadillo repeat containing X-linked 4 [Gene - HGNC]
  • ARMCX5:armadillo repeat containing X-linked 5 [Gene - HGNC]
  • ARMCX6:armadillo repeat containing X-linked 6 [Gene - HGNC]
  • ARR3:arrestin 3 [Gene - OMIM - HGNC]
  • ARSD:arylsulfatase D [Gene - OMIM - HGNC]
  • ARSF:arylsulfatase F [Gene - OMIM - HGNC]
  • ARSL:arylsulfatase L [Gene - OMIM - HGNC]
  • ARSH:arylsulfatase family member H [Gene - OMIM - HGNC]
  • ATXN3L:ataxin 3 like [Gene - OMIM - HGNC]
  • ATG4A:autophagy related 4A cysteine peptidase [Gene - OMIM - HGNC]
  • BHLHB9:basic helix-loop-helix family member b9 [Gene - OMIM - HGNC]
  • BGN:biglycan [Gene - OMIM - HGNC]
  • BRS3:bombesin receptor subtype 3 [Gene - OMIM - HGNC]
  • BMP15:bone morphogenetic protein 15 [Gene - OMIM - HGNC]
  • BEX1:brain expressed X-linked 1 [Gene - OMIM - HGNC]
  • BEX2:brain expressed X-linked 2 [Gene - OMIM - HGNC]
  • BEX3:brain expressed X-linked 3 [Gene - OMIM - HGNC]
  • BEX4:brain expressed X-linked 4 [Gene - OMIM - HGNC]
  • BEX5:brain expressed X-linked 5 [Gene - OMIM - HGNC]
  • BRWD3:bromodomain and WD repeat domain containing 3 [Gene - OMIM - HGNC]
  • CACNA1F:calcium voltage-gated channel subunit alpha1 F [Gene - OMIM - HGNC]
  • CASK:calcium/calmodulin dependent serine protein kinase [Gene - OMIM - HGNC]
  • CAPN6:calpain 6 [Gene - OMIM - HGNC]
  • CTAG1A:cancer/testis antigen 1A [Gene - OMIM - HGNC]
  • CTAG1B:cancer/testis antigen 1B [Gene - OMIM - HGNC]
  • CTAG2:cancer/testis antigen 2 [Gene - OMIM - HGNC]
  • CT55:cancer/testis antigen 55 [Gene - HGNC]
  • CT83:cancer/testis antigen 83 [Gene - OMIM - HGNC]
  • CT45A10:cancer/testis antigen family 45 member A10 [Gene - HGNC]
  • CT45A1:cancer/testis antigen family 45 member A1 [Gene - OMIM - HGNC]
  • CT45A2:cancer/testis antigen family 45 member A2 [Gene - OMIM - HGNC]
  • CT45A3:cancer/testis antigen family 45 member A3 [Gene - OMIM - HGNC]
  • CT45A5:cancer/testis antigen family 45 member A5 [Gene - OMIM - HGNC]
  • CT45A6:cancer/testis antigen family 45 member A6 [Gene - OMIM - HGNC]
  • CT45A7:cancer/testis antigen family 45 member A7 [Gene - HGNC]
  • CT45A8:cancer/testis antigen family 45 member A8 [Gene - HGNC]
  • CT45A9:cancer/testis antigen family 45 member A9 [Gene - HGNC]
  • CT47A10:cancer/testis antigen family 47 member A10 [Gene - OMIM - HGNC]
  • CT47A11:cancer/testis antigen family 47 member A11 [Gene - OMIM - HGNC]
  • CT47A12:cancer/testis antigen family 47 member A12 [Gene - HGNC]
  • CT47A1:cancer/testis antigen family 47 member A1 [Gene - OMIM - HGNC]
  • CT47A2:cancer/testis antigen family 47 member A2 [Gene - OMIM - HGNC]
  • CT47A3:cancer/testis antigen family 47 member A3 [Gene - OMIM - HGNC]
  • CT47A4:cancer/testis antigen family 47 member A4 [Gene - OMIM - HGNC]
  • CT47A5:cancer/testis antigen family 47 member A5 [Gene - OMIM - HGNC]
  • CT47A6:cancer/testis antigen family 47 member A6 [Gene - OMIM - HGNC]
  • CT47A7:cancer/testis antigen family 47 member A7 [Gene - OMIM - HGNC]
  • CT47A8:cancer/testis antigen family 47 member A8 [Gene - OMIM - HGNC]
  • CT47A9:cancer/testis antigen family 47 member A9 [Gene - OMIM - HGNC]
  • CT47B1:cancer/testis antigen family 47 member B1 [Gene - OMIM - HGNC]
  • CHST7:carbohydrate sulfotransferase 7 [Gene - OMIM - HGNC]
  • CA5B:carbonic anhydrase 5B [Gene - OMIM - HGNC]
  • CDX4:caudal type homeobox 4 [Gene - OMIM - HGNC]
  • CETN2:centrin 2 [Gene - OMIM - HGNC]
  • CENPI:centromere protein I [Gene - OMIM - HGNC]
  • CENPVL1:centromere protein V like 1 [Gene - HGNC]
  • CENPVL2:centromere protein V like 2 [Gene - HGNC]
  • CENPVL3:centromere protein V like 3 [Gene - HGNC]
  • CDR1:cerebellar degeneration related protein 1 [Gene - OMIM - HGNC]
  • CLIC2:chloride intracellular channel 2 [Gene - OMIM - HGNC]
  • CLCN4:chloride voltage-gated channel 4 [Gene - OMIM - HGNC]
  • CLCN5:chloride voltage-gated channel 5 [Gene - OMIM - HGNC]
  • CSAG1:chondrosarcoma associated gene 1 [Gene - OMIM - HGNC]
  • CHRDL1:chordin like 1 [Gene - OMIM - HGNC]
  • LOC389895:chromosome 16 open reading frame 72-like [Gene]
  • CXorf21:chromosome X open reading frame 21 [Gene - HGNC]
  • CXorf22:chromosome X open reading frame 22 [Gene]
  • CXorf30:chromosome X open reading frame 30 [Gene]
  • CXorf38:chromosome X open reading frame 38 [Gene - HGNC]
  • CXorf40A:chromosome X open reading frame 40A [Gene - OMIM - HGNC]
  • CXorf40B:chromosome X open reading frame 40B [Gene - HGNC]
  • LOC101059915:chromosome X open reading frame 49-like [Gene]
  • CXorf49:chromosome X open reading frame 49 [Gene - HGNC]
  • CXorf49B:chromosome X open reading frame 49B [Gene - HGNC]
  • CXorf51A:chromosome X open reading frame 51A [Gene - HGNC]
  • CXorf51B:chromosome X open reading frame 51B [Gene - HGNC]
  • CXorf56:chromosome X open reading frame 56 [Gene - OMIM - HGNC]
  • CXorf58:chromosome X open reading frame 58 [Gene - HGNC]
  • CXorf65:chromosome X open reading frame 65 [Gene - HGNC]
  • CXorf66:chromosome X open reading frame 66 [Gene - HGNC]
  • CFAP47:cilia and flagella associated protein 47 [Gene - HGNC]
  • CLDN2:claudin 2 [Gene - OMIM - HGNC]
  • CLDN34:claudin 34 [Gene - HGNC]
  • CSTF2:cleavage stimulation factor subunit 2 [Gene - OMIM - HGNC]
  • F9:coagulation factor IX [Gene - OMIM - HGNC]
  • F8A1:coagulation factor VIII associated 1 [Gene - OMIM - HGNC]
  • F8A2:coagulation factor VIII associated 2 [Gene - HGNC]
  • F8A3:coagulation factor VIII associated 3 [Gene - HGNC]
  • F8:coagulation factor VIII [Gene - OMIM - HGNC]
  • CCDC120:coiled-coil domain containing 120 [Gene - OMIM - HGNC]
  • CCDC160:coiled-coil domain containing 160 [Gene - HGNC]
  • CCDC22:coiled-coil domain containing 22 [Gene - OMIM - HGNC]
  • COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]
  • COL4A6:collagen type IV alpha 6 chain [Gene - OMIM - HGNC]
  • CLTRN:collectrin, amino acid transport regulator [Gene - OMIM - HGNC]
  • CSF2RA:colony stimulating factor 2 receptor alpha subunit [Gene - OMIM - OMIM - HGNC]
  • CFP:complement factor properdin [Gene - OMIM - HGNC]
  • CNKSR2:connector enhancer of kinase suppressor of Ras 2 [Gene - OMIM - HGNC]
  • CUL4B:cullin 4B [Gene - OMIM - HGNC]
  • CNGA2:cyclic nucleotide gated channel subunit alpha 2 [Gene - OMIM - HGNC]
  • CCNB3:cyclin B3 [Gene - OMIM - HGNC]
  • CCNQ:cyclin Q [Gene - OMIM - HGNC]
  • CDK16:cyclin dependent kinase 16 [Gene - OMIM - HGNC]
  • CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
  • CYLC1:cylicin 1 [Gene - OMIM - HGNC]
  • CHIC1:cysteine rich hydrophobic domain 1 [Gene - OMIM - HGNC]
  • CYSLTR1:cysteinyl leukotriene receptor 1 [Gene - OMIM - HGNC]
  • CYBB:cytochrome b-245 beta chain [Gene - OMIM - HGNC]
  • COX7B:cytochrome c oxidase subunit 7B [Gene - OMIM - HGNC]
  • CRLF2:cytokine receptor like factor 2 [Gene - OMIM - OMIM - HGNC]
  • DACH2:dachshund family transcription factor 2 [Gene - OMIM - HGNC]
  • DOCK11:dedicator of cytokinesis 11 [Gene - OMIM - HGNC]
  • DHRSX:dehydrogenase/reductase X-linked [Gene - HGNC]
  • DNASE1L1:deoxyribonuclease 1 like 1 [Gene - OMIM - HGNC]
  • DGAT2L6:diacylglycerol O-acyltransferase 2 like 6 [Gene - OMIM - HGNC]
  • DGKK:diacylglycerol kinase kappa [Gene - OMIM - HGNC]
  • DIAPH2:diaphanous related formin 2 [Gene - OMIM - HGNC]
  • DLG3:discs large MAGUK scaffold protein 3 [Gene - OMIM - HGNC]
  • DIPK2B:divergent protein kinase domain 2B [Gene - OMIM - HGNC]
  • DCX:doublecortin [Gene - OMIM - HGNC]
  • DUSP21:dual specificity phosphatase 21 [Gene - OMIM - HGNC]
  • DUSP9:dual specificity phosphatase 9 [Gene - OMIM - HGNC]
  • DYNLT3:dynein light chain Tctex-type 3 [Gene - OMIM - HGNC]
  • DKC1:dyskerin pseudouridine synthase 1 [Gene - OMIM - HGNC]
  • DRP2:dystrophin related protein 2 [Gene - OMIM - HGNC]
  • DMD:dystrophin [Gene - OMIM - HGNC]
  • ENOX2:ecto-NOX disulfide-thiol exchanger 2 [Gene - OMIM - HGNC]
  • EDA2R:ectodysplasin A2 receptor [Gene - OMIM - HGNC]
  • EDA:ectodysplasin A [Gene - OMIM - HGNC]
  • ETDA:embryonic testis differentiation homolog A [Gene - HGNC]
  • ETDB:embryonic testis differentiation homolog B [Gene - HGNC]
  • ETDC:embryonic testis differentiation homolog C [Gene - HGNC]
  • EMD:emerin [Gene - OMIM - HGNC]
  • EFNB1:ephrin B1 [Gene - OMIM - HGNC]
  • EIF1AX:eukaryotic translation initiation factor 1A X-linked [Gene - OMIM - HGNC]
  • EIF2S3:eukaryotic translation initiation factor 2 subunit gamma [Gene - OMIM - HGNC]
  • LOC100509091:extracellular matrix protein 2-like [Gene]
  • FAM104B:family with sequence similarity 104 member B [Gene - HGNC]
  • FAM120C:family with sequence similarity 120C [Gene - OMIM - HGNC]
  • FAM122B:family with sequence similarity 122B [Gene - HGNC]
  • FAM122C:family with sequence similarity 122C [Gene - HGNC]
  • FAM133A:family with sequence similarity 133 member A [Gene - HGNC]
  • FAM155B:family with sequence similarity 155 member B [Gene - HGNC]
  • FAM156A:family with sequence similarity 156 member A [Gene - HGNC]
  • FAM156B:family with sequence similarity 156 member B [Gene - HGNC]
  • FAM199X:family with sequence similarity 199, X-linked [Gene - HGNC]
  • FAM223A:family with sequence similarity 223 member A [Gene - HGNC]
  • FAM223B:family with sequence similarity 223 member B [Gene - HGNC]
  • FAM226A:family with sequence similarity 226 member A [Gene - HGNC]
  • FAM226B:family with sequence similarity 226 member B [Gene - HGNC]
  • FAM236A:family with sequence similarity 235 member A [Gene - HGNC]
  • FAM236B:family with sequence similarity 236 member B [Gene - HGNC]
  • FAM236C:family with sequence similarity 236 member C [Gene - HGNC]
  • FAM236D:family with sequence similarity 236 member D [Gene - HGNC]
  • FAM3A:family with sequence similarity 3 member A [Gene - OMIM - HGNC]
  • FAM47A:family with sequence similarity 47 member A [Gene - HGNC]
  • FAM47B:family with sequence similarity 47 member B [Gene - HGNC]
  • FAM47C:family with sequence similarity 47 member C [Gene - HGNC]
  • FAM50A:family with sequence similarity 50 member A [Gene - OMIM - HGNC]
  • FAM9A:family with sequence similarity 9 member A [Gene - OMIM - HGNC]
  • FAM9B:family with sequence similarity 9 member B [Gene - OMIM - HGNC]
  • FAM9C:family with sequence similarity 9 member C [Gene - OMIM - HGNC]
  • FAAH2:fatty acid amide hydrolase 2 [Gene - OMIM - HGNC]
  • FTHL17:ferritin heavy chain like 17 [Gene - OMIM - HGNC]
  • FTHL18:ferritin heavy chain like 18 [Gene - HGNC]
  • FATE1:fetal and adult testis expressed 1 [Gene - OMIM - HGNC]
  • FGF13:fibroblast growth factor 13 [Gene - OMIM - HGNC]
  • FGF16:fibroblast growth factor 16 [Gene - OMIM - OMIM - HGNC]
  • FLNA:filamin A [Gene - OMIM - HGNC]
  • FIRRE:firre intergenic repeating RNA element [Gene - OMIM - HGNC]
  • FOXO4:forkhead box O4 [Gene - OMIM - HGNC]
  • FOXP3:forkhead box P3 [Gene - OMIM - HGNC]
  • FOXR2:forkhead box R2 [Gene - OMIM - HGNC]
  • FHL1:four and a half LIM domains 1 [Gene - OMIM - HGNC]
  • GLA:galactosidase alpha [Gene - OMIM - HGNC]
  • GABRA3:gamma-aminobutyric acid type A receptor alpha3 subunit [Gene - OMIM - HGNC]
  • GABRE:gamma-aminobutyric acid type A receptor epsilon subunit [Gene - OMIM - HGNC]
  • GABRQ:gamma-aminobutyric acid type A receptor theta subunit [Gene - OMIM - HGNC]
  • GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]
  • GRPR:gastrin releasing peptide receptor [Gene - OMIM - HGNC]
  • GEMIN8:gem nuclear organelle associated protein 8 [Gene - OMIM - HGNC]
  • GCNA:germ cell nuclear acidic peptidase [Gene - OMIM - HGNC]
  • G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM - HGNC]
  • GLUD2:glutamate dehydrogenase 2 [Gene - OMIM - HGNC]
  • GRIA3:glutamate ionotropic receptor AMPA type subunit 3 [Gene - OMIM - HGNC]
  • GK:glycerol kinase [Gene - OMIM - HGNC]
  • GDPD2:glycerophosphodiester phosphodiesterase domain containing 2 [Gene - OMIM - HGNC]
  • GLRA2:glycine receptor alpha 2 [Gene - OMIM - HGNC]
  • GYG2:glycogenin 2 [Gene - OMIM - HGNC]
  • GPM6B:glycoprotein M6B [Gene - OMIM - HGNC]
  • GLOD5:glyoxalase domain containing 5 [Gene - HGNC]
  • GPC3:glypican 3 [Gene - OMIM - HGNC]
  • GPC4:glypican 4 [Gene - OMIM - HGNC]
  • GUCY2F:guanylate cyclase 2F, retinal [Gene - OMIM - HGNC]
  • HSFX1:heat shock transcription factor family, X-linked 1 [Gene - HGNC]
  • HSFX2:heat shock transcription factor family, X-linked 2 [Gene - HGNC]
  • HSFX3:heat shock transcription factor family, X-linked member 3 [Gene - HGNC]
  • HSFX4:heat shock transcription factor family, X-linked member 4 [Gene - HGNC]
  • HS6ST2:heparan sulfate 6-O-sulfotransferase 2 [Gene - OMIM - HGNC]
  • HEPH:hephaestin [Gene - OMIM - HGNC]
  • HNRNPH2:heterogeneous nuclear ribonucleoprotein H2 [Gene - OMIM - HGNC]
  • HMGB3:high mobility group box 3 [Gene - OMIM - HGNC]
  • HMGN5:high mobility group nucleosome binding domain 5 [Gene - OMIM - HGNC]
  • HDX:highly divergent homeobox [Gene - OMIM - HGNC]
  • HDAC6:histone deacetylase 6 [Gene - OMIM - HGNC]
  • HDAC8:histone deacetylase 8 [Gene - OMIM - HGNC]
  • HCCS:holocytochrome c synthase [Gene - OMIM - HGNC]
  • HCFC1:host cell factor C1 [Gene - OMIM - HGNC]
  • HSD17B10:hydroxysteroid 17-beta dehydrogenase 10 [Gene - OMIM - HGNC]
  • HPRT1:hypoxanthine phosphoribosyltransferase 1 [Gene - OMIM - HGNC]
  • IDS:iduronate 2-sulfatase [Gene - OMIM - HGNC]
  • IGBP1:immunoglobulin binding protein 1 [Gene - OMIM - HGNC]
  • IGSF1:immunoglobulin superfamily member 1 [Gene - OMIM - HGNC]
  • INE1:inactivation escape 1 [Gene - OMIM - HGNC]
  • INE2:inactivation escape 2 [Gene - OMIM - HGNC]
  • IKBKG:inhibitor of nuclear factor kappa B kinase regulatory subunit gamma [Gene - OMIM - HGNC]
  • IRS4:insulin receptor substrate 4 [Gene - OMIM - HGNC]
  • LOC106146143:int1h-1 recombination region [Gene]
  • LOC106146144:int1h-2 recombination region [Gene]
  • LOC106146150:int22h-1 recombination region [Gene]
  • LOC106146151:int22h-2 recombination region [Gene]
  • LOC106146152:int22h-3 recombination region [Gene]
  • ITM2A:integral membrane protein 2A [Gene - OMIM - HGNC]
  • INTS6L:integrator complex subunit 6 like [Gene - HGNC]
  • ITGB1BP2:integrin subunit beta 1 binding protein 2 [Gene - OMIM - HGNC]
  • ITIH6:inter-alpha-trypsin inhibitor heavy chain family member 6 [Gene - HGNC]
  • IL1RAPL1:interleukin 1 receptor accessory protein like 1 [Gene - OMIM - HGNC]
  • IL1RAPL2:interleukin 1 receptor accessory protein like 2 [Gene - OMIM - HGNC]
  • IRAK1:interleukin 1 receptor associated kinase 1 [Gene - OMIM - HGNC]
  • IL13RA1:interleukin 13 receptor subunit alpha 1 [Gene - OMIM - HGNC]
  • IL13RA2:interleukin 13 receptor subunit alpha 2 [Gene - OMIM - HGNC]
  • IL2RG:interleukin 2 receptor subunit gamma [Gene - OMIM - HGNC]
  • IL3RA:interleukin 3 receptor subunit alpha [Gene - OMIM - OMIM - HGNC]
  • IL9R:interleukin 9 receptor [Gene - OMIM - HGNC]
  • IDH3G:isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma [Gene - OMIM - HGNC]
  • JADE3:jade family PHD finger 3 [Gene - OMIM - HGNC]
  • KLHL13:kelch like family member 13 [Gene - OMIM - HGNC]
  • KLHL15:kelch like family member 15 [Gene - OMIM - HGNC]
  • KLHL34:kelch like family member 34 [Gene - HGNC]
  • KLHL4:kelch like family member 4 [Gene - OMIM - HGNC]
  • KIF4A:kinesin family member 4A [Gene - OMIM - HGNC]
  • LRCH2:leucine rich repeats and calponin homology domain containing 2 [Gene - HGNC]
  • LUZP4:leucine zipper protein 4 [Gene - OMIM - HGNC]
  • LINC00102:long intergenic non-protein coding RNA 102 [Gene - HGNC]
  • LINC00106:long intergenic non-protein coding RNA 106 [Gene - HGNC]
  • LINC01186:long intergenic non-protein coding RNA 1186 [Gene - HGNC]
  • LINC01201:long intergenic non-protein coding RNA 1201 [Gene - HGNC]
  • LINC01203:long intergenic non-protein coding RNA 1203 [Gene - HGNC]
  • LINC01204:long intergenic non-protein coding RNA 1204 [Gene - HGNC]
  • LINC01278:long intergenic non-protein coding RNA 1278 [Gene - HGNC]
  • LINC01281:long intergenic non-protein coding RNA 1281 [Gene - HGNC]
  • LINC01282:long intergenic non-protein coding RNA 1282 [Gene - HGNC]
  • LINC01284:long intergenic non-protein coding RNA 1284 [Gene - HGNC]
  • LINC01285:long intergenic non-protein coding RNA 1285 [Gene - HGNC]
  • LINC01402:long intergenic non-protein coding RNA 1402 [Gene - HGNC]
  • LINC01456:long intergenic non-protein coding RNA 1456 [Gene - HGNC]
  • LINC01496:long intergenic non-protein coding RNA 1496 [Gene - HGNC]
  • LINC01545:long intergenic non-protein coding RNA 1545 [Gene - HGNC]
  • LINC01546:long intergenic non-protein coding RNA 1546 [Gene - HGNC]
  • LINC01560:long intergenic non-protein coding RNA 1560 [Gene - HGNC]
  • LINC02154:long intergenic non-protein coding RNA 2154 [Gene - HGNC]
  • LINC02243:long intergenic non-protein coding RNA 2243 [Gene - HGNC]
  • LINC02589:long intergenic non-protein coding RNA 2589 [Gene - HGNC]
  • LINC02595:long intergenic non-protein coding RNA 2595 [Gene - HGNC]
  • LINC02601:long intergenic non-protein coding RNA 2601 [Gene - HGNC]
  • LINC00269:long intergenic non-protein coding RNA 269 [Gene - HGNC]
  • LINC00629:long intergenic non-protein coding RNA 629 [Gene - HGNC]
  • LINC00630:long intergenic non-protein coding RNA 630 [Gene - HGNC]
  • LINC00632:long intergenic non-protein coding RNA 632 [Gene - HGNC]
  • LINC00685:long intergenic non-protein coding RNA 685 [Gene - HGNC]
  • LINC00850:long intergenic non-protein coding RNA 850 [Gene - OMIM - HGNC]
  • LINC00889:long intergenic non-protein coding RNA 889 [Gene - HGNC]
  • LINC00891:long intergenic non-protein coding RNA 891 [Gene - HGNC]
  • LINC00892:long intergenic non-protein coding RNA 892 [Gene - HGNC]
  • LINC00893:long intergenic non-protein coding RNA 893 [Gene - HGNC]
  • LINC00894:long intergenic non-protein coding RNA 894 [Gene - HGNC]
  • LCA10:lung carcinoma-associated 10 [Gene]
  • KDM5C:lysine demethylase 5C [Gene - OMIM - HGNC]
  • KDM6A:lysine demethylase 6A [Gene - OMIM - HGNC]
  • LPAR4:lysophosphatidic acid receptor 4 [Gene - OMIM - HGNC]
  • LAMP2:lysosomal associated membrane protein 2 [Gene - OMIM - HGNC]
  • MAGT1:magnesium transporter 1 [Gene - OMIM - HGNC]
  • MAMLD1:mastermind like domain containing 1 [Gene - OMIM - HGNC]
  • MXRA5:matrix remodeling associated 5 [Gene - OMIM - HGNC]
  • MTCP1:mature T cell proliferation 1 [Gene - OMIM - HGNC]
  • MED12:mediator complex subunit 12 [Gene - OMIM - HGNC]
  • MED14:mediator complex subunit 14 [Gene - OMIM - HGNC]
  • LOC107522039:meiotic recombination hotspot PAR2 [Gene]
  • LOC107838685:meiotic recombination hotspot PAR2A [Gene]
  • LOC107652445:meiotic recombination hotspot SHOX [Gene]
  • MBTPS2:membrane bound transcription factor peptidase, site 2 [Gene - OMIM - HGNC]
  • MMGT1:membrane magnesium transporter 1 [Gene - HGNC]
  • MPP1:membrane palmitoylated protein 1 [Gene - OMIM - HGNC]
  • MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]
  • MIR105-1:microRNA 105-1 [Gene - OMIM - HGNC]
  • MIR105-2:microRNA 105-2 [Gene - OMIM - HGNC]
  • MIR106A:microRNA 106a [Gene - OMIM - HGNC]
  • MIR1184-1:microRNA 1184-1 [Gene - HGNC]
  • MIR1184-2:microRNA 1184-2 [Gene - HGNC]
  • MIR1184-3:microRNA 1184-3 [Gene - HGNC]
  • MIR12129:microRNA 12129 [Gene - HGNC]
  • MIR1264:microRNA 1264 [Gene - HGNC]
  • MIR1277:microRNA 1277 [Gene - HGNC]
  • MIR1298:microRNA 1298 [Gene - HGNC]
  • MIR1321:microRNA 1321 [Gene - HGNC]
  • MIR1468:microRNA 1468 [Gene - HGNC]
  • MIR1587:microRNA 1587 [Gene - HGNC]
  • MIR188:microRNA 188 [Gene - HGNC]
  • MIR18B:microRNA 18b [Gene - HGNC]
  • MIR1911:microRNA 1911 [Gene - HGNC]
  • MIR1912:microRNA 1912 [Gene - HGNC]
  • MIR19B2:microRNA 19b-2 [Gene - OMIM - HGNC]
  • MIR20B:microRNA 20b [Gene - OMIM - HGNC]
  • MIR2114:microRNA 2114 [Gene - HGNC]
  • MIR221:microRNA 221 [Gene - OMIM - HGNC]
  • MIR222:microRNA 222 [Gene - OMIM - HGNC]
  • MIR223:microRNA 223 [Gene - OMIM - HGNC]
  • MIR224:microRNA 224 [Gene - OMIM - HGNC]
  • MIR23C:microRNA 23c [Gene - HGNC]
  • MIR3202-1:microRNA 3202-1 [Gene - HGNC]
  • MIR3202-2:microRNA 3202-2 [Gene - HGNC]
  • MIR320D2:microRNA 320d-2 [Gene - HGNC]
  • MIR325:microRNA 325 [Gene - HGNC]
  • MIR361:microRNA 361 [Gene - HGNC]
  • MIR362:microRNA 362 [Gene - HGNC]
  • MIR363:microRNA 363 [Gene - HGNC]
  • MIR3672:microRNA 3672 [Gene - HGNC]
  • MIR3690:microRNA 3690 [Gene - HGNC]
  • MIR374A:microRNA 374a [Gene - HGNC]
  • MIR374B:microRNA 374b [Gene - HGNC]
  • MIR374C:microRNA 374c [Gene - HGNC]
  • MIR384:microRNA 384 [Gene - HGNC]
  • MIR3915:microRNA 3915 [Gene - HGNC]
  • MIR3937:microRNA 3937 [Gene - HGNC]
  • MIR3978:microRNA 3978 [Gene - HGNC]
  • MIR421:microRNA 421 [Gene - HGNC]
  • MIR424:microRNA 424 [Gene - OMIM - HGNC]
  • MIR4328:microRNA 4328 [Gene - HGNC]
  • MIR4329:microRNA 4329 [Gene - HGNC]
  • MIR4330:microRNA 4330 [Gene - HGNC]
  • MIR448:microRNA 448 [Gene - OMIM - HGNC]
  • MIR450A1:microRNA 450a-1 [Gene - HGNC]
  • MIR450A2:microRNA 450a-2 [Gene - HGNC]
  • MIR450B:microRNA 450b [Gene - HGNC]
  • MIR452:microRNA 452 [Gene - HGNC]
  • MIR4536-1:microRNA 4536-1 [Gene - HGNC]
  • MIR4536-2:microRNA 4536-2 [Gene - HGNC]
  • MIR4666B:microRNA 4666b [Gene - HGNC]
  • MIR4767:microRNA 4767 [Gene - HGNC]
  • MIR4768:microRNA 4768 [Gene - HGNC]
  • MIR4769:microRNA 4769 [Gene - HGNC]
  • MIR4770:microRNA 4770 [Gene - HGNC]
  • MIR500A:microRNA 500a [Gene - HGNC]
  • MIR500B:microRNA 500b [Gene - HGNC]
  • MIR501:microRNA 501 [Gene - HGNC]
  • MIR502:microRNA 502 [Gene - OMIM - HGNC]
  • MIR503:microRNA 503 [Gene - OMIM - HGNC]
  • MIR504:microRNA 504 [Gene - HGNC]
  • MIR505:microRNA 505 [Gene - HGNC]
  • MIR506:microRNA 506 [Gene - OMIM - HGNC]
  • MIR507:microRNA 507 [Gene - HGNC]
  • MIR508:microRNA 508 [Gene - OMIM - HGNC]
  • MIR509-1:microRNA 509-1 [Gene - OMIM - HGNC]
  • MIR509-2:microRNA 509-2 [Gene - HGNC]
  • MIR509-3:microRNA 509-3 [Gene - OMIM - HGNC]
  • MIR510:microRNA 510 [Gene - OMIM - HGNC]
  • MIR513A1:microRNA 513a-1 [Gene - HGNC]
  • MIR513A2:microRNA 513a-2 [Gene - HGNC]
  • MIR513B:microRNA 513b [Gene - HGNC]
  • MIR513C:microRNA 513c [Gene - HGNC]
  • MIR514A1:microRNA 514a-1 [Gene - HGNC]
  • MIR514A2:microRNA 514a-2 [Gene - HGNC]
  • MIR514A3:microRNA 514a-3 [Gene - HGNC]
  • MIR514B:microRNA 514b [Gene - HGNC]
  • MIR532:microRNA 532 [Gene - OMIM - HGNC]
  • MIR542:microRNA 542 [Gene - HGNC]
  • MIR545:microRNA 545 [Gene - HGNC]
  • MIR548AJ2:microRNA 548aj-2 [Gene - HGNC]
  • MIR548AM:microRNA 548am [Gene - HGNC]
  • MIR548AN:microRNA 548an [Gene - HGNC]
  • MIR548AX:microRNA 548ax [Gene - HGNC]
  • MIR548F5:microRNA 548f-5 [Gene - HGNC]
  • MIR548I4:microRNA 548i-4 [Gene - HGNC]
  • MIR548M:microRNA 548m [Gene - HGNC]
  • MIR6086:microRNA 6086 [Gene - HGNC]
  • MIR6087:microRNA 6087 [Gene - HGNC]
  • MIR6089:microRNA 6089 [Gene - HGNC]
  • MIR6134:microRNA 6134 [Gene - HGNC]
  • MIR651:microRNA 651 [Gene - HGNC]
  • MIR652:microRNA 652 [Gene - HGNC]
  • MIR660:microRNA 660 [Gene - HGNC]
  • MIR664B:microRNA 664b [Gene - HGNC]
  • MIR676:microRNA 676 [Gene - HGNC]
  • MIR6857:microRNA 6857 [Gene - HGNC]
  • MIR6858:microRNA 6858 [Gene - HGNC]
  • MIR6894:microRNA 6894 [Gene - HGNC]
  • MIR6895:microRNA 6895 [Gene - HGNC]
  • MIR718:microRNA 718 [Gene - OMIM - HGNC]
  • MIR764:microRNA 764 [Gene - HGNC]
  • MIR766:microRNA 766 [Gene - HGNC]
  • MIR767:microRNA 767 [Gene - HGNC]
  • MIR8088:microRNA 8088 [Gene - HGNC]
  • MIR888:microRNA 888 [Gene - HGNC]
  • MIR890:microRNA 890 [Gene - HGNC]
  • MIR891A:microRNA 891a [Gene - HGNC]
  • MIR891B:microRNA 891b [Gene - HGNC]
  • MIR892A:microRNA 892a [Gene - HGNC]
  • MIR892B:microRNA 892b [Gene - HGNC]
  • MIR892C:microRNA 892c [Gene - HGNC]
  • MIR92A2:microRNA 92a-2 [Gene - HGNC]
  • MIR934:microRNA 934 [Gene - HGNC]
  • MIR98:microRNA 98 [Gene - OMIM - HGNC]
  • MIRLET7F2:microRNA let-7f-2 [Gene - OMIM - HGNC]
  • MID1:midline 1 [Gene - OMIM - HGNC]
  • MID2:midline 2 [Gene - OMIM - HGNC]
  • MPC1L:mitochondrial pyruvate carrier 1 like [Gene - HGNC]
  • MAP3K15:mitogen-activated protein kinase kinase kinase 15 [Gene - OMIM - HGNC]
  • MSN:moesin [Gene - OMIM - HGNC]
  • MAOA:monoamine oxidase A [Gene - OMIM - HGNC]
  • MAOB:monoamine oxidase B [Gene - OMIM - HGNC]
  • MORF4L2:mortality factor 4 like 2 [Gene - OMIM - HGNC]
  • MOSPD1:motile sperm domain containing 1 [Gene - OMIM - HGNC]
  • MOSPD2:motile sperm domain containing 2 [Gene - HGNC]
  • MBNL3:muscleblind like splicing regulator 3 [Gene - OMIM - HGNC]
  • MTM1:myotubularin 1 [Gene - OMIM - HGNC]
  • MTMR1:myotubularin related protein 1 [Gene - OMIM - HGNC]
  • MTMR8:myotubularin related protein 8 [Gene - HGNC]
  • NBDY:negative regulator of P-body association [Gene - OMIM - HGNC]
  • NEXMIF:neurite extension and migration factor [Gene - OMIM - HGNC]
  • NLGN3:neuroligin 3 [Gene - OMIM - HGNC]
  • NLGN4X:neuroligin 4 X-linked [Gene - OMIM - HGNC]
  • NONO:non-POU domain containing octamer binding [Gene - OMIM - HGNC]
  • LOC106799844:nonconserved acetylation island sequence 104 enhancer [Gene]
  • NDP:norrin cystine knot growth factor NDP [Gene - OMIM - HGNC]
  • NXF2:nuclear RNA export factor 2 [Gene - OMIM - HGNC]
  • NXF2B:nuclear RNA export factor 2B [Gene - HGNC]
  • NXF3:nuclear RNA export factor 3 [Gene - OMIM - HGNC]
  • NXF5:nuclear RNA export factor 5 [Gene - OMIM - HGNC]
  • NCBP2L:nuclear cap binding protein subunit 2 like [Gene - HGNC]
  • NR0B1:nuclear receptor subfamily 0 group B member 1 [Gene - OMIM - HGNC]
  • NXT2:nuclear transport factor 2 like export factor 2 [Gene - OMIM - HGNC]
  • NUP62CL:nucleoporin 62 C-terminal like [Gene - HGNC]
  • NAP1L2:nucleosome assembly protein 1 like 2 [Gene - OMIM - HGNC]
  • NAP1L3:nucleosome assembly protein 1 like 3 [Gene - OMIM - HGNC]
  • NUDT10:nudix hydrolase 10 [Gene - OMIM - HGNC]
  • NUDT11:nudix hydrolase 11 [Gene - OMIM - HGNC]
  • NYX:nyctalopin [Gene - OMIM - HGNC]
  • OR13H1:olfactory receptor family 13 subfamily H member 1 [Gene - HGNC]
  • OPHN1:oligophrenin 1 [Gene - OMIM - HGNC]
  • OPN1LW:opsin 1, long wave sensitive [Gene - OMIM - HGNC]
  • OPN1MW2:opsin 1, medium wave sensitive 2 [Gene - HGNC]
  • OPN1MW3:opsin 1, medium wave sensitive 3 [Gene - HGNC]
  • OPN1MW:opsin 1, medium wave sensitive [Gene - OMIM - HGNC]
  • OPSIN-LCR:opsin locus control region [Gene - OMIM]
  • LOC107048984:origin of replication in 5' region of AFF2/FMR2 [Gene]
  • LOC107032825:origin of replication in 5' region of FMR1 [Gene]
  • LOC107181288:origin of replication in promoter of G6PD [Gene]
  • LOC107032760:origin of replication in promoter/intron 1 of HPRT1 [Gene]
  • LOC107048982:origin of replication upstream of FMR1 [Gene]
  • OTC:ornithine carbamoyltransferase [Gene - OMIM - HGNC]
  • PAK3:p21 (RAC1) activated kinase 3 [Gene - OMIM - HGNC]
  • PINCR:p53-induced noncoding RNA [Gene - HGNC]
  • PNPLA4:patatin like phospholipase domain containing 4 [Gene - OMIM - HGNC]
  • PTCHD1:patched domain containing 1 [Gene - OMIM - HGNC]
  • PIN4:peptidylprolyl cis/trans isomerase, NIMA-interacting 4 [Gene - OMIM - HGNC]
  • PRDX4:peroxiredoxin 4 [Gene - OMIM - HGNC]
  • PCYT1B:phosphate cytidylyltransferase 1, choline, beta [Gene - OMIM - HGNC]
  • PHEX:phosphate regulating endopeptidase homolog X-linked [Gene - OMIM - HGNC]
  • PIGA:phosphatidylinositol glycan anchor biosynthesis class A [Gene - OMIM - HGNC]
  • PLCXD1:phosphatidylinositol specific phospholipase C X domain containing 1 [Gene - OMIM - HGNC]
  • PGK1:phosphoglycerate kinase 1 [Gene - OMIM - HGNC]
  • PGAM4:phosphoglycerate mutase family member 4 [Gene - OMIM - HGNC]
  • PRPS1:phosphoribosyl pyrophosphate synthetase 1 [Gene - OMIM - HGNC]
  • PRPS2:phosphoribosyl pyrophosphate synthetase 2 [Gene - OMIM - HGNC]
  • PHKA1:phosphorylase kinase regulatory subunit alpha 1 [Gene - OMIM - HGNC]
  • PHKA2:phosphorylase kinase regulatory subunit alpha 2 [Gene - OMIM - HGNC]
  • PIR:pirin [Gene - OMIM - HGNC]
  • PLAC1:placenta enriched 1 [Gene - OMIM - HGNC]
  • PLS3:plastin 3 [Gene - OMIM - HGNC]
  • PLXNA3:plexin A3 [Gene - OMIM - HGNC]
  • PLXNB3:plexin B3 [Gene - OMIM - HGNC]
  • PABPC1L2A:poly(A) binding protein cytoplasmic 1 like 2A [Gene - HGNC]
  • PABPC1L2B:poly(A) binding protein cytoplasmic 1 like 2B [Gene - HGNC]
  • PABPC5:poly(A) binding protein cytoplasmic 5 [Gene - OMIM - HGNC]
  • PQBP1:polyglutamine binding protein 1 [Gene - OMIM - HGNC]
  • PBDC1:polysaccharide biosynthesis domain containing 1 [Gene - HGNC]
  • PORCN:porcupine O-acyltransferase [Gene - OMIM - HGNC]
  • KCND1:potassium voltage-gated channel subfamily D member 1 [Gene - OMIM - HGNC]
  • KCNE5:potassium voltage-gated channel subfamily E regulatory subunit 5 [Gene - OMIM - HGNC]
  • PJA1:praja ring finger ubiquitin ligase 1 [Gene - OMIM - HGNC]
  • PNCK:pregnancy up-regulated nonubiquitous CaM kinase [Gene - OMIM - HGNC]
  • PRICKLE3:prickle planar cell polarity protein 3 [Gene - OMIM - HGNC]
  • PGRMC1:progesterone receptor membrane component 1 [Gene - OMIM - HGNC]
  • PRR32:proline rich 32 [Gene - HGNC]
  • PRRG1:proline rich and Gla domain 1 [Gene - OMIM - HGNC]
  • PRRG3:proline rich and Gla domain 3 [Gene - OMIM - HGNC]
  • PCSK1N:proprotein convertase subtilisin/kexin type 1 inhibitor [Gene - OMIM - HGNC]
  • PSMD10:proteasome 26S subunit, non-ATPase 10 [Gene - OMIM - HGNC]
  • PRKX:protein kinase X-linked [Gene - OMIM - HGNC]
  • PPP1R3F:protein phosphatase 1 regulatory subunit 3F [Gene - HGNC]
  • PPP2R3B:protein phosphatase 2 regulatory subunit B''beta [Gene - OMIM - HGNC]
  • PPP4R3C:protein phosphatase 4 regulatory subunit 3C [Gene - HGNC]
  • PPEF1:protein phosphatase with EF-hand domain 1 [Gene - OMIM - HGNC]
  • PLP1:proteolipid protein 1 [Gene - OMIM - HGNC]
  • PLP2:proteolipid protein 2 [Gene - OMIM - HGNC]
  • PCDH11X:protocadherin 11 X-linked [Gene - OMIM - HGNC]
  • PCDH19:protocadherin 19 [Gene - OMIM - HGNC]
  • PUDP:pseudouridine 5'-phosphatase [Gene - OMIM - HGNC]
  • P2RY4:pyrimidinergic receptor P2Y4 [Gene - OMIM - HGNC]
  • PDHA1:pyruvate dehydrogenase E1 alpha 1 subunit [Gene - OMIM - HGNC]
  • PDK3:pyruvate dehydrogenase kinase 3 [Gene - OMIM - HGNC]
  • RGN:regucalcin [Gene - OMIM - HGNC]
  • RENBP:renin binding protein [Gene - OMIM - HGNC]
  • RPA4:replication protein A4 [Gene - OMIM - HGNC]
  • RPGR:retinitis pigmentosa GTPase regulator [Gene - OMIM - HGNC]
  • RAI2:retinoic acid induced 2 [Gene - OMIM - HGNC]
  • RS1:retinoschisin 1 [Gene - OMIM - HGNC]
  • RTL3:retrotransposon Gag like 3 [Gene - HGNC]
  • RTL4:retrotransposon Gag like 4 [Gene - HGNC]
  • RTL5:retrotransposon Gag like 5 [Gene - HGNC]
  • RTL8A:retrotransposon Gag like 8A [Gene - HGNC]
  • RTL8B:retrotransposon Gag like 8B [Gene - HGNC]
  • RTL8C:retrotransposon Gag like 8C [Gene - OMIM - HGNC]
  • RTL9:retrotransposon Gag like 9 [Gene - OMIM - HGNC]
  • RPL10:ribosomal protein L10 [Gene - OMIM - HGNC]
  • RPL36A:ribosomal protein L36a [Gene - OMIM - HGNC]
  • RPL39:ribosomal protein L39 [Gene - OMIM - HGNC]
  • RPS4X:ribosomal protein S4 X-linked [Gene - OMIM - HGNC]
  • RPS6KA3:ribosomal protein S6 kinase A3 [Gene - OMIM - HGNC]
  • RPS6KA6:ribosomal protein S6 kinase A6 [Gene - OMIM - HGNC]
  • RNF113A:ring finger protein 113A [Gene - OMIM - HGNC]
  • RNF128:ring finger protein 128 [Gene - OMIM - HGNC]
  • RLIM:ring finger protein, LIM domain interacting [Gene - OMIM - HGNC]
  • RIPPLY1:ripply transcriptional repressor 1 [Gene - OMIM - HGNC]
  • SAGE1:sarcoma antigen 1 [Gene - OMIM - HGNC]
  • SEPTIN6:septin 6 [Gene - OMIM - HGNC]
  • SERTM2:serine rich and transmembrane domain containing 2 [Gene - HGNC]
  • STK26:serine/threonine kinase 26 [Gene - OMIM - HGNC]
  • SERPINA7:serpin family A member 7 [Gene - OMIM - HGNC]
  • SHOX:short stature homeobox [Gene - OMIM - OMIM - HGNC]
  • SHROOM2:shroom family member 2 [Gene - OMIM - HGNC]
  • SHROOM4:shroom family member 4 [Gene - OMIM - HGNC]
  • SSR4:signal sequence receptor subunit 4 [Gene - OMIM - HGNC]
  • SCARNA23:small Cajal body-specific RNA 23 [Gene - HGNC]
  • SCARNA9L:small Cajal body-specific RNA 9 like [Gene - HGNC]
  • SMIM10L2A:small integral membrane protein 10 like 2A [Gene - HGNC]
  • SMIM10L2B:small integral membrane protein 10 like 2B [Gene - HGNC]
  • SMIM10:small integral membrane protein 10 [Gene - HGNC]
  • SMIM9:small integral membrane protein 9 [Gene - HGNC]
  • SMPX:small muscle protein X-linked [Gene - OMIM - OMIM - HGNC]
  • SNORD3E:small nucleolar RNA, C/D box 3E [Gene - HGNC]
  • SNORD61:small nucleolar RNA, C/D box 61 [Gene - HGNC]
  • SNORD96B:small nucleolar RNA, C/D box 96B [Gene - HGNC]
  • SNORA109:small nucleolar RNA, H/ACA box 109 [Gene - HGNC]
  • SNORA11:small nucleolar RNA, H/ACA box 11 [Gene - OMIM - HGNC]
  • SNORA11C:small nucleolar RNA, H/ACA box 11C [Gene - HGNC]
  • SNORA11D:small nucleolar RNA, H/ACA box 11D [Gene - HGNC]
  • SNORA11E:small nucleolar RNA, H/ACA box 11E [Gene - HGNC]
  • SNORA11G:small nucleolar RNA, H/ACA box 11G [Gene - HGNC]
  • SNORA35:small nucleolar RNA, H/ACA box 35 [Gene - HGNC]
  • SNORA35B:small nucleolar RNA, H/ACA box 35B [Gene - HGNC]
  • SNORA36A:small nucleolar RNA, H/ACA box 36A [Gene - HGNC]
  • SNORA48B:small nucleolar RNA, H/ACA box 48B [Gene - HGNC]
  • SNORA56:small nucleolar RNA, H/ACA box 56 [Gene - HGNC]
  • SNORA69:small nucleolar RNA, H/ACA box 69 [Gene - HGNC]
  • SNORA70:small nucleolar RNA, H/ACA box 70 [Gene - HGNC]
  • SLC10A3:solute carrier family 10 member 3 [Gene - OMIM - HGNC]
  • SLC16A2:solute carrier family 16 member 2 [Gene - OMIM - HGNC]
  • SLC25A14:solute carrier family 25 member 14 [Gene - OMIM - HGNC]
  • SLC25A43:solute carrier family 25 member 43 [Gene - OMIM - HGNC]
  • SLC25A53:solute carrier family 25 member 53 [Gene - OMIM - HGNC]
  • SLC25A5:solute carrier family 25 member 5 [Gene - OMIM - HGNC]
  • SLC25A6:solute carrier family 25 member 6 [Gene - OMIM - OMIM - HGNC]
  • SLC35A2:solute carrier family 35 member A2 [Gene - OMIM - HGNC]
  • SLC38A5:solute carrier family 38 member 5 [Gene - OMIM - HGNC]
  • SLC6A14:solute carrier family 6 member 14 [Gene - OMIM - HGNC]
  • SLC6A8:solute carrier family 6 member 8 [Gene - OMIM - HGNC]
  • SLC7A3:solute carrier family 7 member 3 [Gene - OMIM - HGNC]
  • SLC9A6:solute carrier family 9 member A6 [Gene - OMIM - HGNC]
  • SLC9A7:solute carrier family 9 member A7 [Gene - OMIM - HGNC]
  • SNX12:sorting nexin 12 [Gene - OMIM - HGNC]
  • SOWAHD:sosondowah ankyrin repeat domain family member D [Gene - HGNC]
  • SPACA5:sperm acrosome associated 5 [Gene - OMIM - HGNC]
  • SPACA5B:sperm acrosome associated 5B [Gene - HGNC]
  • SPANXA1:sperm protein associated with the nucleus, X-linked, family member A1 [Gene - OMIM - HGNC]
  • SATL1:spermidine/spermine N1-acetyl transferase like 1 [Gene - HGNC]
  • SAT1:spermidine/spermine N1-acetyltransferase 1 [Gene - OMIM - HGNC]
  • SMS:spermine synthase [Gene - OMIM - HGNC]
  • SPIN2A:spindlin family member 2A [Gene - OMIM - HGNC]
  • SPIN2B:spindlin family member 2B [Gene - OMIM - HGNC]
  • SPIN3:spindlin family member 3 [Gene - HGNC]
  • SPIN4:spindlin family member 4 [Gene - HGNC]
  • SPRY3:sprouty RTK signaling antagonist 3 [Gene - OMIM - HGNC]
  • STS:steroid sulfatase [Gene - OMIM - HGNC]
  • STAG2:stromal antigen 2 [Gene - OMIM - HGNC]
  • SMC1A:structural maintenance of chromosomes 1A [Gene - OMIM - HGNC]
  • SUV39H1:suppressor of variegation 3-9 homolog 1 [Gene - OMIM - HGNC]
  • SRPX2:sushi repeat containing protein X-linked 2 [Gene - OMIM - HGNC]
  • SRPX:sushi repeat containing protein X-linked [Gene - OMIM - HGNC]
  • SYAP1:synapse associated protein 1 [Gene - HGNC]
  • SYN1:synapsin I [Gene - OMIM - HGNC]
  • SYP:synaptophysin [Gene - OMIM - HGNC]
  • SYTL4:synaptotagmin like 4 [Gene - OMIM - HGNC]
  • SYTL5:synaptotagmin like 5 [Gene - HGNC]
  • TCP11X1:t-complex 11 family, X-linked 1 [Gene - HGNC]
  • TCP11X2:t-complex 11 family, X-linked 2 [Gene - HGNC]
  • TRMT2B:tRNA methyltransferase 2 homolog B [Gene - HGNC]
  • TRI-GAT1-1:tRNA-Ile (anticodon GAT) 1-1 [Gene - HGNC]
  • TRI-GAT1-2:tRNA-Ile (anticodon GAT) 1-2 [Gene - HGNC]
  • TRI-GAT1-3:tRNA-Ile (anticodon GAT) 1-3 [Gene - HGNC]
  • TRV-TAC1-2:tRNA-Val (anticodon TAC) 1-2 [Gene - HGNC]
  • TAZ:tafazzin [Gene - OMIM - HGNC]
  • TXLNG:taxilin gamma [Gene - OMIM - HGNC]
  • TENM1:teneurin transmembrane protein 1 [Gene - OMIM - HGNC]
  • TNMD:tenomodulin [Gene - OMIM - HGNC]
  • TENT5D:terminal nucleotidyltransferase 5D [Gene - OMIM - HGNC]
  • TEX11:testis expressed 11 [Gene - OMIM - HGNC]
  • TEX13A:testis expressed 13A [Gene - OMIM - HGNC]
  • TEX13B:testis expressed 13B [Gene - OMIM - HGNC]
  • TEX28:testis expressed 28 [Gene - OMIM - HGNC]
  • TSPAN6:tetraspanin 6 [Gene - OMIM - HGNC]
  • TSPAN7:tetraspanin 7 [Gene - OMIM - HGNC]
  • TREX2:three prime repair exonuclease 2 [Gene - OMIM - HGNC]
  • TMSB15B:thymosin beta 15B [Gene - OMIM - HGNC]
  • TMSB15A:thymosin beta 15a [Gene - OMIM - HGNC]
  • TMSB4X:thymosin beta 4 X-linked [Gene - OMIM - HGNC]
  • TLR7:toll like receptor 7 [Gene - OMIM - HGNC]
  • TLR8:toll like receptor 8 [Gene - OMIM - HGNC]
  • TRAPPC2:trafficking protein particle complex 2 [Gene - OMIM - HGNC]
  • TCEANC:transcription elongation factor A N-terminal and central domain containing [Gene - HGNC]
  • TCEAL1:transcription elongation factor A like 1 [Gene - OMIM - HGNC]
  • TCEAL2:transcription elongation factor A like 2 [Gene - HGNC]
  • TCEAL3:transcription elongation factor A like 3 [Gene - HGNC]
  • TCEAL4:transcription elongation factor A like 4 [Gene - HGNC]
  • TCEAL5:transcription elongation factor A like 5 [Gene - HGNC]
  • TCEAL6:transcription elongation factor A like 6 [Gene - HGNC]
  • TCEAL7:transcription elongation factor A like 7 [Gene - OMIM - HGNC]
  • TCEAL8:transcription elongation factor A like 8 [Gene - HGNC]
  • TCEAL9:transcription elongation factor A like 9 [Gene - HGNC]
  • TFDP3:transcription factor Dp family member 3 [Gene - OMIM - HGNC]
  • TFE3:transcription factor binding to IGHM enhancer 3 [Gene - OMIM - HGNC]
  • TBL1X:transducin beta like 1 X-linked [Gene - OMIM - HGNC]
  • TRPC5:transient receptor potential cation channel subfamily C member 5 [Gene - OMIM - HGNC]
  • TKTL1:transketolase like 1 [Gene - OMIM - HGNC]
  • TIMM17B:translocase of inner mitochondrial membrane 17B [Gene - OMIM - HGNC]
  • TIMM8A:translocase of inner mitochondrial membrane 8A [Gene - OMIM - HGNC]
  • TMEM164:transmembrane protein 164 [Gene - HGNC]
  • TMEM185A:transmembrane protein 185A [Gene - OMIM - HGNC]
  • TMEM187:transmembrane protein 187 [Gene - OMIM - HGNC]
  • TMEM255A:transmembrane protein 255A [Gene - HGNC]
  • TMEM31:transmembrane protein 31 [Gene - HGNC]
  • TMEM35A:transmembrane protein 35A [Gene - HGNC]
  • TMEM47:transmembrane protein 47 [Gene - OMIM - HGNC]
  • TMLHE:trimethyllysine hydroxylase, epsilon [Gene - OMIM - HGNC]
  • TRO:trophinin [Gene - OMIM - HGNC]
  • UBQLN2:ubiquilin 2 [Gene - OMIM - HGNC]
  • UBE2A:ubiquitin conjugating enzyme E2 A [Gene - OMIM - HGNC]
  • UBE2NL:ubiquitin conjugating enzyme E2 N like (gene/pseudogene) [Gene - HGNC]
  • UBL4A:ubiquitin like 4A [Gene - OMIM - HGNC]
  • UBA1:ubiquitin like modifier activating enzyme 1 [Gene - OMIM - HGNC]
  • USP11:ubiquitin specific peptidase 11 [Gene - OMIM - HGNC]
  • USP26:ubiquitin specific peptidase 26 [Gene - OMIM - HGNC]
  • USP27X:ubiquitin specific peptidase 27 X-linked [Gene - OMIM - HGNC]
  • USP51:ubiquitin specific peptidase 51 [Gene - HGNC]
  • USP9X:ubiquitin specific peptidase 9 X-linked [Gene - OMIM - HGNC]
  • UXT:ubiquitously expressed prefoldin like chaperone [Gene - OMIM - HGNC]
  • LOC100126447:uncharacterized LOC100126447 [Gene]
  • LOC100132741:uncharacterized LOC100132741 [Gene]
  • LOC100506790:uncharacterized LOC100506790 [Gene]
  • LOC101927476:uncharacterized LOC101927476 [Gene]
  • LOC101927635:uncharacterized LOC101927635 [Gene]
  • LOC101927830:uncharacterized LOC101927830 [Gene]
  • LOC101928128:uncharacterized LOC101928128 [Gene]
  • LOC101928201:uncharacterized LOC101928201 [Gene]
  • LOC101928335:uncharacterized LOC101928335 [Gene]
  • LOC101928336:uncharacterized LOC101928336 [Gene]
  • LOC101928358:uncharacterized LOC101928358 [Gene]
  • LOC101928389:uncharacterized LOC101928389 [Gene]
  • LOC101928402:uncharacterized LOC101928402 [Gene]
  • LOC101928437:uncharacterized LOC101928437 [Gene]
  • LOC101928495:uncharacterized LOC101928495 [Gene]
  • LOC101928564:uncharacterized LOC101928564 [Gene]
  • LOC101928627:uncharacterized LOC101928627 [Gene]
  • GS1-594A7.3:uncharacterized LOC104798195 [Gene]
  • LOC105373156:uncharacterized LOC105373156 [Gene]
  • LOC105373311:uncharacterized LOC105373311 [Gene]
  • LOC105373338:uncharacterized LOC105373338 [Gene]
  • LOC105373378:uncharacterized LOC105373378 [Gene]
  • LOC105373383:uncharacterized LOC105373383 [Gene]
  • LOC105377213:uncharacterized LOC105377213 [Gene]
  • LOC286437:uncharacterized LOC286437 [Gene]
  • LOC645188:uncharacterized LOC645188 [Gene]
  • LOC728660:uncharacterized LOC728660 [Gene]
  • LOC729609:uncharacterized LOC729609 [Gene]
  • CH17-340M24.3:uncharacterized protein BC009467 [Gene]
  • GS1-600G8.3:unknown transcript [Gene]
  • UPRT:uracil phosphoribosyltransferase homolog [Gene - OMIM - HGNC]
  • VMA21:vacuolar ATPase assembly factor VMA21 [Gene - OMIM - HGNC]
  • VCX2:variable charge X-linked 2 [Gene - OMIM - HGNC]
  • VCX3A:variable charge X-linked 3A [Gene - OMIM - HGNC]
  • VCX3B:variable charge X-linked 3B [Gene - OMIM - HGNC]
  • VCX:variable charge X-linked [Gene - OMIM - HGNC]
  • VEGFD:vascular endothelial growth factor D [Gene - OMIM - HGNC]
  • VAMP7:vesicle associated membrane protein 7 [Gene - OMIM - HGNC]
  • VGLL1:vestigial like family member 1 [Gene - OMIM - HGNC]
  • ZBED1:zinc finger BED-type containing 1 [Gene - OMIM - HGNC]
  • ZC4H2:zinc finger C4H2-type containing [Gene - OMIM - OMIM - HGNC]
  • ZC3H12B:zinc finger CCCH-type containing 12B [Gene - OMIM - HGNC]
  • ZRSR2:zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 [Gene - OMIM - HGNC]
  • ZCCHC12:zinc finger CCHC-type containing 12 [Gene - OMIM - HGNC]
  • ZCCHC13:zinc finger CCHC-type containing 13 [Gene - HGNC]
  • ZCCHC18:zinc finger CCHC-type containing 18 [Gene - HGNC]
  • ZDHHC15:zinc finger DHHC-type containing 15 [Gene - OMIM - HGNC]
  • ZDHHC9:zinc finger DHHC-type containing 9 [Gene - OMIM - HGNC]
  • ZMYM3:zinc finger MYM-type containing 3 [Gene - OMIM - HGNC]
  • ZXDA:zinc finger X-linked duplicated A [Gene - OMIM - HGNC]
  • ZXDB:zinc finger X-linked duplicated B [Gene - OMIM - HGNC]
  • ZBTB33:zinc finger and BTB domain containing 33 [Gene - OMIM - HGNC]
  • ZMAT1:zinc finger matrin-type 1 [Gene - OMIM - HGNC]
  • ZNF157:zinc finger protein 157 [Gene - OMIM - HGNC]
  • ZNF182:zinc finger protein 182 [Gene - OMIM - HGNC]
  • ZNF185:zinc finger protein 185 with LIM domain [Gene - OMIM - HGNC]
  • ZNF275:zinc finger protein 275 [Gene - HGNC]
  • ZNF280C:zinc finger protein 280C [Gene - HGNC]
  • ZNF41:zinc finger protein 41 [Gene - OMIM - HGNC]
  • ZNF449:zinc finger protein 449 [Gene - OMIM - HGNC]
  • ZNF630:zinc finger protein 630 [Gene - OMIM - HGNC]
  • ZNF674:zinc finger protein 674 [Gene - OMIM - HGNC]
  • ZNF711:zinc finger protein 711 [Gene - OMIM - HGNC]
  • ZNF75D:zinc finger protein 75D [Gene - OMIM - HGNC]
  • ZNF81:zinc finger protein 81 [Gene - OMIM - HGNC]
  • ZFX:zinc finger protein X-linked [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
Xp22.33-q28
Genomic location:
Preferred name:
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1
HGVS:
  • NC_000023.11:g.(?_20297)_(156026127_?)del
  • NC_000023.10:g.(?_70297)_(155255792_?)del
Links:
dbVar: nssv1609854; dbVar: nsv498495
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000175001ISCA site 6

See additional submitters

no assertion criteria providedPathogenic
(Apr 30, 2011)
not providedclinical testing

PubMed (1)
[See all records that cite this PMID]

Description

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.

SCV000175001

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 6, SCV000175001.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Sep 8, 2019

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