ncbi_gene_id
stringlengths 11
18
| gene_symbol
stringlengths 1
10
| association_type
stringclasses 3
values | disease_id
stringlengths 7
12
| source
stringclasses 2
values |
|---|---|---|---|---|
NCBIGene:4893 | NRAS | MENDELIAN | OMIM:162900 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:3265 | HRAS | MENDELIAN | OMIM:162900 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:2261 | FGFR3 | MENDELIAN | OMIM:162900 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:5290 | PIK3CA | MENDELIAN | OMIM:162900 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:64132 | XYLT2 | MENDELIAN | OMIM:605822 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:658 | BMPR1B | MENDELIAN | OMIM:112600 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:650 | BMP2 | MENDELIAN | OMIM:112600 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:8200 | GDF5 | MENDELIAN | OMIM:112600 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:10020 | GNE | MENDELIAN | OMIM:605820 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:6448 | SGSH | MENDELIAN | OMIM:252900 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:10564 | ARFGEF2 | MENDELIAN | OMIM:608097 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:5396 | PRRX1 | MENDELIAN | OMIM:202650 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:1798 | DPAGT1 | MENDELIAN | OMIM:608093 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:51259 | TMEM216 | MENDELIAN | OMIM:608091 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:56623 | INPP5E | MENDELIAN | OMIM:213300 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:4023 | LPL | MENDELIAN | OMIM:238600 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:959 | CD40LG | MENDELIAN | OMIM:308230 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:1950 | EGF | MENDELIAN | OMIM:611718 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:6442 | SGCA | MENDELIAN | OMIM:608099 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:56945 | MRPS22 | MENDELIAN | OMIM:611719 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:10165 | SLC25A13 | MENDELIAN | OMIM:605814 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:4312 | MMP1 | POLYGENIC | OMIM:226600 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:1294 | COL7A1 | MENDELIAN | OMIM:226600 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:5660 | PSAP | MENDELIAN | OMIM:611721 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:5660 | PSAP | MENDELIAN | OMIM:611722 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:3662 | IRF4 | MENDELIAN | OMIM:611724 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:27030 | MLH3 | POLYGENIC | OMIM:608089 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:4437 | MSH3 | MENDELIAN | OMIM:608089 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:999 | CDH1 | MENDELIAN | OMIM:608089 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:2956 | MSH6 | POLYGENIC | OMIM:608089 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:154881 | KCTD7 | MENDELIAN | OMIM:611726 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:4068 | SH2D1A | MENDELIAN | OMIM:308240 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:331 | XIAP | MENDELIAN | OMIM:308240 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:2312 | FLG | POLYGENIC | OMIM:605803 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:7480 | WNT10B | MENDELIAN | OMIM:225300 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:1145 | CHRNE | MENDELIAN | OMIM:605809 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:2334 | AFF2 | MENDELIAN | OMIM:309548 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:24140 | FTSJ1 | MENDELIAN | OMIM:309549 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:6928 | HNF1B | MENDELIAN | OMIM:137920 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:3054 | HCFC1 | MENDELIAN | OMIM:309541 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:4625 | MYH7 | MENDELIAN | OMIM:255160 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:4647 | MYO7A | MENDELIAN | OMIM:276900 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:10083 | USH1C | MENDELIAN | OMIM:276900 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:7399 | USH2A | MENDELIAN | OMIM:276901 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:79955 | PDZD7 | POLYGENIC | OMIM:276901 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:6331 | SCN5A | MENDELIAN | OMIM:113900 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:7401 | CLRN1 | MENDELIAN | OMIM:276902 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:10083 | USH1C | MENDELIAN | OMIM:276904 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:27316 | RBMX | MENDELIAN | OMIM:309555 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:208 | AKT2 | MENDELIAN | OMIM:240900 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:434 | ASIP | MENDELIAN | OMIM:611742 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:2065 | ERBB3 | MENDELIAN | OMIM:243180 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:7291 | TWIST1 | MENDELIAN | OMIM:180750 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:4210 | MEFV | MENDELIAN | OMIM:608068 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:9294 | S1PR2 | MENDELIAN | OMIM:610419 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:3914 | LAMB3 | MENDELIAN | OMIM:226650 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:1278 | COL1A2 | MENDELIAN | OMIM:225320 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:4609 | MYC | MENDELIAN | OMIM:113970 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:8842 | PROM1 | MENDELIAN | OMIM:608051 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:9968 | MED12 | MENDELIAN | OMIM:309520 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:3588 | IL10RB | POLYGENIC | OMIM:610424 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:3455 | IFNAR2 | POLYGENIC | OMIM:610424 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:3459 | IFNGR1 | POLYGENIC | OMIM:610424 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:80184 | CEP290 | MENDELIAN | OMIM:611755 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:1413 | CRYBA4 | MENDELIAN | OMIM:610425 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:57010 | CABP4 | MENDELIAN | OMIM:610427 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:162417 | NAGS | MENDELIAN | OMIM:237310 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:128178 | EDARADD | MENDELIAN | OMIM:129490 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:10913 | EDAR | MENDELIAN | OMIM:129490 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:2993 | GYPA | MENDELIAN | OMIM:111300 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:51360 | MBTPS2 | MENDELIAN | OMIM:308205 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:2324 | FLT4 | MENDELIAN | OMIM:153100 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:91662 | NLRP12 | MENDELIAN | OMIM:611762 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:23096 | IQSEC2 | MENDELIAN | OMIM:309530 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:2799 | GNS | MENDELIAN | OMIM:252940 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:10084 | PQBP1 | MENDELIAN | OMIM:309500 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:5339 | PLEC | MENDELIAN | OMIM:226670 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:2521 | FUS | MENDELIAN | OMIM:608030 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:348 | APOE | MENDELIAN | OMIM:611771 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:54187 | NANS | MENDELIAN | OMIM:610442 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:1282 | COL4A1 | MENDELIAN | OMIM:611773 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:284058 | KANSL1 | MENDELIAN | OMIM:610443 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:2779 | GNAT1 | MENDELIAN | OMIM:610444 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:6010 | RHO | MENDELIAN | OMIM:610445 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:6556 | SLC11A1 | POLYGENIC | OMIM:610446 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:60506 | NYX | MENDELIAN | OMIM:310500 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:138050 | HGSNAT | MENDELIAN | OMIM:252930 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:23171 | GPD1L | MENDELIAN | OMIM:611777 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:11277 | TREX1 | MENDELIAN | OMIM:610448 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:1855 | DVL1 | MENDELIAN | OMIM:180700 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:7474 | WNT5A | MENDELIAN | OMIM:180700 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:5903 | RANBP2 | POLYGENIC | OMIM:608033 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:2034 | EPAS1 | MENDELIAN | OMIM:611783 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:54809 | SAMD9 | MENDELIAN | OMIM:610455 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:170302 | ARX | MENDELIAN | OMIM:309510 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:27445 | PCLO | MENDELIAN | OMIM:608027 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:1373 | CPS1 | MENDELIAN | OMIM:237300 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:59 | ACTA2 | MENDELIAN | OMIM:611788 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:4669 | NAGLU | MENDELIAN | OMIM:252920 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |
NCBIGene:3852 | KRT5 | MENDELIAN | OMIM:609352 | ftp://ftp.ncbi.nlm.nih.gov/gene/DATA/mim2gene_medgen |