| 基因ID | taxid | GeneDate LocusTag | Symbol Synonyms | Symbolfna Fullnamefna | dbXrefs | chromosome maplocation | description | genetype fnastatus | Otherdesignations | Featuretype |
| 8132 | 9606 | 20190816 | PKDTS | MIM:600273 | 16 16p13.3 | polycystic kidney disease, infantile severe, with tuberous sclerosis | unknown | |||
| 8136 | 9606 | 20190816 | WT3 | MIM:194090 | 16 16q | Wilms tumor-3 | unknown | |||
| 8137 | 9606 | 20191002 | HYD2 | MIM:602639 | 16 16q12.1 | hypodontia 2 (autosomal recessive) | unknown | hypodontia, autosomal recessive (2) | ||
| 8139 | 9606 | 20220703 | GAN GAN1|GIG|KLHL16 | GAN gigaxonin | MIM:605379|HGNC:HGNC:4137|Ensembl:ENSG00000261609|AllianceGenome:HGNC:4137 | 16 16q23.2 | gigaxonin | protein-coding O | gigaxonin|epididymis secretory sperm binding protein|kelch-like family member 16|kelch-like protein 16 | |
| 8140 | 9606 | 20220703 | SLC7A5 4F2LC|CD98|D16S469E|E16|LAT1|MPE16 | SLC7A5 solute carrier family 7 member 5 | MIM:600182|HGNC:HGNC:11063|Ensembl:ENSG00000103257|AllianceGenome:HGNC:11063 | 16 16q24.2 | solute carrier family 7 member 5 | protein-coding O | large neutral amino acids transporter small subunit 1|4F2 light chain|CD98 light chain|L-type amino acid transporter 1|integral membrane protein E16|sodium-independent neutral amino acid transporter LAT1|solute carrier family 7 (amino acid transporter light chain, L system), member 5|solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 | |
| 8144 | 9606 | 20170408 | CMS1A1 FIM1|FIMG|FIMG1|MGI | MIM:605809 | myasthenia gravis, familial infantile, 1 | unknown | ||||
| 8148 | 9606 | 20220718 | TAF15 Npl3|RBP56|TAF2N|TAFII68 | TAF15 TATA-box binding protein associated factor 15 | MIM:601574|HGNC:HGNC:11547|Ensembl:ENSG00000270647|AllianceGenome:HGNC:11547 | 17 17q12 | TATA-box binding protein associated factor 15 | protein-coding O | TATA-binding protein-associated factor 2N|RBP56/CSMF fusion|TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa|TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)|TATA box-binding protein-associated factor 2N (RNA-binding protein 56)|TBP-associated factor 15 | |
| 8151 | 9606 | 20190816 | WT4 FWT1 | MIM:601363 | 17 17q12-q21 | Wilms tumor-4 | unknown | |||
| 8153 | 9606 | 20220522 | RND2 ARHN|RHO7|RhoN | RND2 Rho family GTPase 2 | MIM:601555|HGNC:HGNC:18315|Ensembl:ENSG00000108830|AllianceGenome:HGNC:18315 | 17 17q21.31 | Rho family GTPase 2 | protein-coding O | rho-related GTP-binding protein RhoN|CTD-3199J23.4|GTP-binding protein Rho7|ras homolog gene family, member N|rho-related GTP-binding protein Rho7 | |
| 8156 | 9606 | 20170402 | GPSC | MIM:221820 | gliosis, familial progressive subcortical | unknown | ||||
| 8161 | 9606 | 20220703 | COIL CLN80|p80-coilin | COIL coilin | MIM:600272|HGNC:HGNC:2184|Ensembl:ENSG00000121058|AllianceGenome:HGNC:2184 | 17 17q22 | coilin | protein-coding O | coilin|coilin p80|p80 | |
| 8163 | 9606 | 20190816 | CDR3 | MIM:602197 | 17 17q25 | Cerebellar degeneration-related autoantigen-3 | other | |||
| 8165 | 9606 | 20220605 | AKAP1 AKAP|AKAP121|AKAP149|AKAP84|D-AKAP1|PPP1R43|PRKA1|SAKAP84|TDRD17 | AKAP1 A-kinase anchoring protein 1 | MIM:602449|HGNC:HGNC:367|Ensembl:ENSG00000121057|AllianceGenome:HGNC:367 | 17 17q22 | A-kinase anchoring protein 1 | protein-coding O | A-kinase anchor protein 1, mitochondrial|A kinase (PRKA) anchor protein 1|A-kinase anchor protein 149 kDa|AKAP 149|D-AKAP-1|dual-specificity A-kinase anchoring protein 1|protein kinase A anchoring protein 1|protein kinase A1|protein phosphatase 1, regulatory subunit 43|spermatid A-kinase anchor protein 84|testicular secretory protein Li 5|tudor domain containing 17 | |
| 8168 | 9606 | 20170408 | TW | 18 | Twirler mouse mutation, human homolog of | unknown | ||||
| 8170 | 9606 | 20220522 | SLC14A2 HUT2|UT-A2|UT2|UTA|UTR|hUT-A6 | SLC14A2 solute carrier family 14 member 2 | MIM:601611|HGNC:HGNC:10919|Ensembl:ENSG00000132874|AllianceGenome:HGNC:10919 | 18 18q12.3 | solute carrier family 14 member 2 | protein-coding O | urea transporter 2|solute carrier family 14 (urea transporter), member 2|urea transporter, kidney | |
| 8173 | 9606 | 20190816 | CNSN | MIM:212200 | 18 18q21.3 | Carnosinemia (carnosinase) | unknown | |||
| 8174 | 9606 | 20220513 | MADCAM1 MACAM1 | MADCAM1 mucosal vascular addressin cell adhesion molecule 1 | MIM:102670|HGNC:HGNC:6765|Ensembl:ENSG00000099866|AllianceGenome:HGNC:6765 | 19 19p13.3 | mucosal vascular addressin cell adhesion molecule 1 | protein-coding O | mucosal addressin cell adhesion molecule 1|MAdCAM-1|hMAdCAM-1 | |
| 8175 | 9606 | 20220703 | SF3A2 PRP11|PRPF11|SAP62|SF3a66 | SF3A2 splicing factor 3a subunit 2 | MIM:600796|HGNC:HGNC:10766|Ensembl:ENSG00000104897|AllianceGenome:HGNC:10766 | 19 19p13.3 | splicing factor 3a subunit 2 | protein-coding O | splicing factor 3A subunit 2|SAP 62|pre-mRNA splicing factor SF3A, subunit 2|spliceosome associated protein 62|splicing factor 3a, subunit 2, 66kD|splicing factor 3a, subunit 2, 66kDa | |
| 8177 | 9606 | 20190816 | LPSA D19S381E | MIM:164953 | 19 19p13.2-q13.3 | Oncogene liposarcoma (DNA segment, single copy, expressed, probes | unknown | Oncogene liposarcoma (DNA segment, single copy, expressed, probes MC15, MC6) | ||
| 8178 | 9606 | 20220623 | ELL C19orf17|ELL1|MEN|PPP1R68 | ELL elongation factor for RNA polymerase II | MIM:600284|HGNC:HGNC:23114|Ensembl:ENSG00000105656|AllianceGenome:HGNC:23114 | 19 19p13.11 | elongation factor for RNA polymerase II | protein-coding O | RNA polymerase II elongation factor ELL|ELL gene (11-19 lysine-rich leukemia gene)|ELL/KMT2A fusion protein|KMT2A/ELL fusion protein|eleven-nineteen lysine-rich leukemia protein|elongation factor RNA polymerase II|protein phosphatase 1, regulatory subunit 68 | |
| 8181 | 9606 | 20190816 | BFIS1 BFIC|BFIC1 | MIM:601764 | 19 19q | benign familial infantile convulsions | unknown | |||
| 8184 | 9606 | 20170402 | HBN1 HB1|PFHB1|PFHB1B | MIM:604559 | Progressive familial heart block, type I, locus 1 | unknown | ||||
| 8187 | 9606 | 20220513 | ZNF239 HOK-2|MOK2 | ZNF239 zinc finger protein 239 | MIM:601069|HGNC:HGNC:13031|Ensembl:ENSG00000196793|AllianceGenome:HGNC:13031 | 10 10q11.21 | zinc finger protein 239 | protein-coding O | zinc finger protein 239|zinc finger protein (C2H2) homologous to mouse MOK-2|zinc finger protein HOK-2|zinc finger protein MOK-2 | |
| 8188 | 9606 | 20170402 | NGFG | MIM:162040 | Nerve growth factor, gamma subunit | unknown | ||||
| 8189 | 9606 | 20220513 | SYMPK Pta1|SPK|SYM | SYMPK symplekin scaffold protein | MIM:602388|HGNC:HGNC:22935|Ensembl:ENSG00000125755|AllianceGenome:HGNC:22935 | 19 19q13.32 | symplekin scaffold protein | protein-coding O | symplekin | |
| 8190 | 9606 | 20220513 | MIA CD-RAP | MIA MIA SH3 domain containing | MIM:601340|HGNC:HGNC:7076|Ensembl:ENSG00000261857|AllianceGenome:HGNC:7076 | 19 19q13.2 | MIA SH3 domain containing | protein-coding O | melanoma-derived growth regulatory protein|melanoma inhibitory activity | |
| 8192 | 9606 | 20220605 | CLPP DFNB81|PRLTS3 | CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit | MIM:601119|HGNC:HGNC:2084|Ensembl:ENSG00000125656|AllianceGenome:HGNC:2084 | 19 19p13.3 | caseinolytic mitochondrial matrix peptidase proteolytic subunit | protein-coding O | ATP-dependent Clp protease proteolytic subunit, mitochondrial|ATP-dependent protease ClpAP, proteolytic subunit, human|ClpP caseinolytic peptidase ATP-dependent, proteolytic subunit|ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog|ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog|endopeptidase Clp|putative ATP-dependent Clp protease proteolytic subunit, mitochondrial | |
| 8193 | 9606 | 20220707 | DPF1 BAF45b|NEUD4|SMARCG1|neuro-d4 | DPF1 double PHD fingers 1 | MIM:601670|HGNC:HGNC:20225|Ensembl:ENSG00000011332|AllianceGenome:HGNC:20225 | 19 19q13.2 | double PHD fingers 1 | protein-coding O | zinc finger protein neuro-d4|BRG1-associated factor 45B|D4, zinc and double PHD fingers family 1|neuro-d4 homolog | |
| 8195 | 9606 | 20220703 | MKKS BBS6|HMCS|KMS|MKS | MKKS MKKS centrosomal shuttling protein | MIM:604896|HGNC:HGNC:7108|Ensembl:ENSG00000125863|Ensembl:ENSG00000285508|Ensembl:ENSG00000285723|AllianceGenome:HGNC:7108 | 20 20p12.2 | MKKS centrosomal shuttling protein | protein-coding O | McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin|Bardet-Biedl syndrome 6 protein|alternative protein MKKS | |
| 8200 | 9606 | 20220529 | GDF5 BDA1C|BMP-14|BMP14|CDMP1|DUPANS|LAP-4|LAP4|OS5|SYM1B|SYNS2 | GDF5 growth differentiation factor 5 | MIM:601146|HGNC:HGNC:4220|Ensembl:ENSG00000125965|AllianceGenome:HGNC:4220 | 20 20q11.22 | growth differentiation factor 5 | protein-coding O | growth/differentiation factor 5|LPS-associated protein 4|bone morphogenetic protein 14|cartilage-derived morphogenetic protein-1|lipopolysaccharide-associated protein 4|radotermin | |
| 8201 | 9606 | 20190816 | MLRL MLRG|MTS | MIM:601308 | 20 20q11.2-q12 | Myeloid leukemia-related gene (myeloid tumor suppressor) | unknown | |||
| 8202 | 9606 | 20220707 | NCOA3 ACTR|AIB-1|AIB1|CAGH16|CTG26|KAT13B|RAC3|SRC-3|SRC3|TNRC14|TNRC16|TRAM-1|bHLHe42|pCIP | NCOA3 nuclear receptor coactivator 3 | MIM:601937|HGNC:HGNC:7670|Ensembl:ENSG00000124151|AllianceGenome:HGNC:7670 | 20 20q13.12 | nuclear receptor coactivator 3 | protein-coding O | nuclear receptor coactivator 3|CBP-interacting protein|amplified in breast cancer 1 protein|class E basic helix-loop-helix protein 42|receptor-associated coactivator 3|steroid receptor coactivator protein 3|thyroid hormone receptor activator molecule 1 | |
| 8204 | 9606 | 20220707 | NRIP1 CAKUT3|RIP140 | NRIP1 nuclear receptor interacting protein 1 | MIM:602490|HGNC:HGNC:8001|Ensembl:ENSG00000180530|AllianceGenome:HGNC:8001 | 21 21q11.2-q21.1 | nuclear receptor interacting protein 1 | protein-coding O | nuclear receptor-interacting protein 1|nuclear factor RIP140|receptor-interacting protein 140 | |
| 8205 | 9606 | 20190816 | TAM MST | MIM:159595 | 21 21q11.2 | Myeloproliferative syndrome, transient (transient abnormal | unknown | Myeloproliferative syndrome, transient (transient abnormal myelopoiesis) | ||
| 8208 | 9606 | 20220707 | CHAF1B CAF-1|CAF-IP60|CAF1|CAF1A|CAF1P60|MPHOSPH7|MPP7 | CHAF1B chromatin assembly factor 1 subunit B | MIM:601245|HGNC:HGNC:1911|Ensembl:ENSG00000159259|AllianceGenome:HGNC:1911 | 21 21q22.12-q22.13 | chromatin assembly factor 1 subunit B | protein-coding O | chromatin assembly factor 1 subunit B|CAF-1 subunit B|CAF-I 60 kDa subunit|CAF-I p60|M-phase phosphoprotein 7|chromatin assembly factor I p60 subunit|human chromatin assembly factor-I p60 subunit | |
| 8209 | 9606 | 20220703 | GATD3 C21orf33|ES1|GATD3A|GT335|HES1|KNPH|KNPI | GATD3 glutamine amidotransferase class 1 domain containing 3 | MIM:601659|HGNC:HGNC:1273|Ensembl:ENSG00000160221|AllianceGenome:HGNC:1273 | 21 21q22.3 | glutamine amidotransferase class 1 domain containing 3 | protein-coding O | glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial|ES1 protein homolog, mitochondrial|Keio novel protein I|glutamine amidotransferase class 1 domain containing 3A|glutamine amidotransferase like class 1 domain containing 3A|glutamine amidotransferase-like class 1 domain-containing protein 3A, mitochondrial|human HES1 protein, homolog to E.coli and zebrafish ES1 protein|testis secretory sperm-binding protein Li 237E | |
| 8212 | 9606 | 20200625 | AABT | MIM:109660 | 21 | Beta-amino acids, renal transport of | unknown | |||
| 8213 | 9606 | 20190815 | BAS | MIM:109670 | Beta-adrenergic stimulation, response to | unknown | ||||
| 8214 | 9606 | 20220514 | DGCR6 | DGCR6 DiGeorge syndrome critical region gene 6 | MIM:601279|HGNC:HGNC:2846|Ensembl:ENSG00000183628|Ensembl:ENSG00000278817|AllianceGenome:HGNC:2846 | 22 22q11.21|22q11 | DiGeorge syndrome critical region gene 6 | protein-coding O | protein DGCR6|DiGeorge syndrome critical region protein 6 | |
| 8215 | 9606 | 20220513 | DVL1P1 DSH|DVL|DVL-22|DVL1|DVL1L1|DVL4 | DVL1P1 dishevelled segment polarity protein 1 pseudogene 1 | MIM:601225|HGNC:HGNC:3085|AllianceGenome:HGNC:3085 | 22 22q11.21|22q11 | dishevelled segment polarity protein 1 pseudogene 1 | pseudo O | dishevelled 1-like 1 (homologous to Drosophila dsh)|dishevelled 4, Drosophila dsh homolog|dishevelled, dsh homolog 1 pseudogene 1|dishevelled, dsh homolog 1-like 1 | |
| 8216 | 9606 | 20220719 | LZTR1 BTBD29|LZTR-1|NS10|NS2|SWNTS2 | LZTR1 leucine zipper like transcription regulator 1 | MIM:600574|HGNC:HGNC:6742|Ensembl:ENSG00000099949|AllianceGenome:HGNC:6742 | 22 22q11.21|22q11.1-q11.2 | leucine zipper like transcription regulator 1 | protein-coding O | leucine-zipper-like transcriptional regulator 1|epididymis secretory sperm binding protein | |
| 8217 | 9606 | 20190324 | IGLJ IGLJ@ | MIM:147230 | 22 22q11.2 | immunoglobulin lambda joining cluster | other | J region of lambda light chains|immunoglobulin lambda joining group | ||
| 8218 | 9606 | 20220513 | CLTCL1 CHC22|CLH22|CLTCL|CLTD | CLTCL1 clathrin heavy chain like 1 | MIM:601273|HGNC:HGNC:2093|Ensembl:ENSG00000070371|AllianceGenome:HGNC:2093 | 22 22q11.21 | clathrin heavy chain like 1 | protein-coding O | clathrin heavy chain 2|CLH-22|Clathrin, heavy polypeptide D|clathrin heavy chain on chromosome 22|clathrin, heavy polypeptide-like 1 | |
| 8220 | 9606 | 20220703 | ESS2 DGCR13|DGCR14|DGS-H|DGS-I|DGSH|DGSI|ES2|ESS-2|Es2el|bis1 | ESS2 ess-2 splicing factor homolog | MIM:601755|HGNC:HGNC:16817|Ensembl:ENSG00000100056|AllianceGenome:HGNC:16817 | 22 22q11.21|22q11.2 | ess-2 splicing factor homolog | protein-coding O | splicing factor ESS-2 homolog|DiGeorge syndrome critical region gene 13|DiGeorge syndrome critical region gene 14|DiGeorge syndrome critical region gene DGSI|DiGeorge syndrome gene H|DiGeorge syndrome gene I|Protein DGCR13|diGeorge syndrome protein H|protein DGCR14 | |
| 8221 | 9606 | 20170408 | OGS2 BBBG2|GBBB2 | MIM:145410 | Opitz G syndrome, type II | unknown | ||||
| 8224 | 9606 | 20220522 | SYN3 | SYN3 synapsin III | MIM:602705|HGNC:HGNC:11496|Ensembl:ENSG00000185666|AllianceGenome:HGNC:11496 | 22 22q12.3 | synapsin III | protein-coding O | synapsin-3|cN28H9.2 (synapsin III) | |
| 8225 | 9606 | 20220719 | GTPBP6 PGPL | GTPBP6 GTP binding protein 6 (putative) | MIM:300124|HGNC:HGNC:30189|Ensembl:ENSG00000178605|AllianceGenome:HGNC:30189 | X|Y X;Y | GTP binding protein 6 (putative) | protein-coding O | putative GTP-binding protein 6 | |
| 8226 | 9606 | 20220522 | PUDP DXF68S1E|FAM16AX|GS1|HDHD1|HDHD1A | PUDP pseudouridine 5'-phosphatase | MIM:306480|HGNC:HGNC:16818|Ensembl:ENSG00000130021|AllianceGenome:HGNC:16818 | X Xp22.31 | pseudouridine 5'-phosphatase | protein-coding O | pseudouridine-5'-phosphatase|5'-PsiMPase|family with sequence similarity 16, member A, X-linked|haloacid dehalogenase-like hydrolase domain containing 1|haloacid dehalogenase-like hydrolase domain containing 1A|haloacid dehalogenase-like hydrolase domain-containing protein 1|haloacid dehalogenase-like hydrolase domain-containing protein 1A|pseudouridine-5'-monophosphatase | |
| 8227 | 9606 | 20220703 | AKAP17A 721P|AKAP-17A|CCDC133|CXYorf3|DXYS155E|PRKA17A|SFRS17A|XE7|XE7Y | AKAP17A A-kinase anchoring protein 17A | MIM:312095|MIM:465000|HGNC:HGNC:18783|Ensembl:ENSG00000197976|AllianceGenome:HGNC:18783 | X|Y X;Y | A-kinase anchoring protein 17A | protein-coding O | A-kinase anchor protein 17A|A kinase (PRKA) anchor protein 17A|B-lymphocyte surface antigen|protein kinase A-anchoring protein 17A|pseudoautosomal gene XE7|splicing factor, arginine/serine-rich 17A | |
| 8228 | 9606 | 20220612 | PNPLA4 DXS1283E|GS2|iPLA2eta | PNPLA4 patatin like phospholipase domain containing 4 | MIM:300102|HGNC:HGNC:24887|Ensembl:ENSG00000006757|AllianceGenome:HGNC:24887 | X Xp22.31 | patatin like phospholipase domain containing 4 | protein-coding O | patatin-like phospholipase domain-containing protein 4|IPLA2 eta|calcium independent phospholipases A2 eta|calcium-independent phospholipase A2-eta |
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