PedAM

Pediatric Disease Annotations & Medicines


	lipid storage disease

Disease ID	1308
Disease	lipid storage disease
Definition	Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.
Synonym	disease lipid storage diseases lipid storage inborn lipid storage disorder lipid storage disease (disorder) lipid storage disease, nos lipidoses lipidoses (disorder) lipidoses [disease/finding] lipidoses nos lipidoses nos (disorder) lipidoses: [familial xanthomatosis] or [nos] lipidoses: [familial xanthomatosis] or [nos] (disorder) lipidosis lipidosis (disorder) lipidosis, nos lipoid storage disease nos lipoidosis lipoidosis (disorder) lipoidosis, nos
Orphanet	ORPHANET:79204
DOID	DOID:9455
UMLS	C0023794
MeSH	D008064
SNOMED-CT	SNOMEDCT_US_2016_09_01:10741005;SNOMEDCT_US_2016_09_01:11455007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0026848 \| myopathy \| 21 C0020757 \| ichthyosis \| 11 C0878544 \| cardiomyopathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:49) NPC2 \| 10577 \| UniProtKB-KW;GHR SMPD1 \| 6609 \| UniProtKB-KW;GHR SUMF1 \| 285362 \| UniProtKB-KW;GHR DNAJC5 \| 80331 \| UniProtKB-KW CTSF \| 8722 \| UniProtKB-KW CTSD \| 1509 \| UniProtKB-KW ARSA \| 410 \| UniProtKB-KW;GHR ARSB \| 411 \| UniProtKB-KW CLN3 \| 1201 \| UniProtKB-KW CLN6 \| 54982 \| UniProtKB-KW CLN5 \| 1203 \| UniProtKB-KW CLN8 \| 2055 \| UniProtKB-KW SLC2A3 \| 6515 \| CTD_human GRN \| 2896 \| UniProtKB-KW NUPR1 \| 26471 \| CTD_human GLA \| 2717 \| GHR GBA \| 2629 \| UniProtKB-KW;GHR CYP27A1 \| 1593 \| GHR NPC1 \| 4864 \| UniProtKB-KW;GHR ABHD5 \| 51099 \| GHR TPP1 \| 1200 \| UniProtKB-KW TAGLN \| 6876 \| CTD_human PPARG \| 5468 \| CTD_human KCTD7 \| 154881 \| UniProtKB-KW HEXA \| 3073 \| UniProtKB-KW;GHR HEXB \| 3074 \| UniProtKB-KW;GHR LSS \| 4047 \| CTD_human GALC \| 2581 \| GHR PSAP \| 5660 \| UniProtKB-KW;GHR AP1S1 \| 1174 \| CTD_human FADS2 \| 9415 \| CTD_human ASAH1 \| 427 \| CTD_human;GHR LIPA \| 3988 \| GHR PPT1 \| 5538 \| UniProtKB-KW MFSD8 \| 256471 \| UniProtKB-KW FNDC4 \| 64838 \| CTD_human ATP13A2 \| 23400 \| UniProtKB-KW NR0B2 \| 8431 \| CTD_human GLB1 \| 2720 \| UniProtKB-KW GM2A \| 2760 \| UniProtKB-KW SCD \| 6319 \| CTD_human ASNS \| 440 \| CTD_human INHBE \| 83729 \| CTD_human WIPI1 \| 55062 \| CTD_human FABP1 \| 2168 \| CTD_human SERPINA3 \| 12 \| CTD_human C10orf10 \| 11067 \| CTD_human GDPD3 \| 79153 \| CTD_human HPN \| 3249 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:687) 4074 \| M6PR \| DISEASES 1595 \| CYP51A1 \| DISEASES 6362 \| CCL18 \| DISEASES 5166 \| PDK4 \| DISEASES 8935 \| SKAP2 \| DISEASES 84220 \| RGPD5 \| DISEASES 5662 \| PSD \| DISEASES 2896 \| GRN \| DISEASES 84699 \| CREB3L3 \| DISEASES 9817 \| KEAP1 \| DISEASES 6561 \| SLC13A1 \| DISEASES 80168 \| MOGAT2 \| DISEASES 23409 \| SIRT4 \| DISEASES 124 \| ADH1A \| DISEASES 990 \| CDC6 \| DISEASES 23411 \| SIRT1 \| DISEASES 997 \| CDC34 \| DISEASES 4616 \| GADD45B \| DISEASES 7494 \| XBP1 \| DISEASES 3162 \| HMOX1 \| DISEASES 410 \| ARSA \| DISEASES 150379 \| PNPLA5 \| DISEASES 80339 \| PNPLA3 \| DISEASES 5816 \| PVALB \| DISEASES 11035 \| RIPK3 \| DISEASES 11198 \| SUPT16H \| DISEASES 6554 \| SLC10A1 \| DISEASES 5106 \| PCK2 \| DISEASES 3929 \| LBP \| DISEASES 7076 \| TIMP1 \| DISEASES 2717 \| GLA \| DISEASES 54 \| ACP5 \| DISEASES 79152 \| FA2H \| DISEASES 4210 \| MEFV \| DISEASES 10423 \| CDIPT \| DISEASES 366 \| AQP9 \| DISEASES 1512 \| CTSH \| DISEASES 2222 \| FDFT1 \| DISEASES 1666 \| DECR1 \| DISEASES 2267 \| FGL1 \| DISEASES 4051 \| CYP4F3 \| DISEASES 56729 \| RETN \| DISEASES 8529 \| CYP4F2 \| DISEASES 2091 \| FBL \| DISEASES 7040 \| TGFB1 \| DISEASES 10226 \| PLIN3 \| DISEASES 973 \| CD79A \| DISEASES 26291 \| FGF21 \| DISEASES 1777 \| DNASE2 \| DISEASES 57817 \| HAMP \| DISEASES 5444 \| PON1 \| DISEASES 10135 \| NAMPT \| DISEASES 5054 \| SERPINE1 \| DISEASES 346606 \| MOGAT3 \| DISEASES 4899 \| NRF1 \| DISEASES 5919 \| RARRES2 \| DISEASES 2645 \| GCK \| DISEASES 6348 \| CCL3 \| DISEASES 6198 \| RPS6KB1 \| DISEASES 708 \| C1QBP \| DISEASES 6347 \| CCL2 \| DISEASES 4669 \| NAGLU \| DISEASES 1277 \| COL1A1 \| DISEASES 27346 \| TMEM97 \| DISEASES 4126 \| MANBA \| DISEASES 116519 \| APOA5 \| DISEASES 345 \| APOC3 \| DISEASES 8050 \| PDHX \| DISEASES 84649 \| DGAT2 \| DISEASES 10944 \| C11orf58 \| DISEASES 5564 \| PRKAB1 \| DISEASES 7942 \| TFEB \| DISEASES 9421 \| HAND1 \| DISEASES 3565 \| IL4 \| DISEASES 6500 \| SKP1 \| DISEASES 2908 \| NR3C1 \| DISEASES 5947 \| RBP1 \| DISEASES 13 \| AADAC \| DISEASES 338 \| APOB \| DISEASES 33 \| ACADL \| DISEASES 1185 \| CLCN6 \| DISEASES 1509 \| CTSD \| DISEASES 335 \| APOA1 \| DISEASES 471 \| ATIC \| DISEASES 140710 \| SOGA1 \| DISEASES 9525 \| VPS4B \| DISEASES 4360 \| MRC1 \| DISEASES 9409 \| PEX16 \| DISEASES 847 \| CAT \| DISEASES 3991 \| LIPE \| DISEASES 696 \| BTN1A1 \| DISEASES 2806 \| GOT2 \| DISEASES 79143 \| MBOAT7 \| DISEASES 51141 \| INSIG2 \| DISEASES 718 \| C3 \| DISEASES 821 \| CANX \| DISEASES 3425 \| IDUA \| DISEASES 391013 \| PLA2G2C \| DISEASES 2678 \| GGT1 \| DISEASES 53947 \| A4GALT \| DISEASES 54982 \| CLN6 \| DISEASES 968 \| CD68 \| DISEASES 6351 \| CCL4 \| DISEASES 3630 \| INS \| DISEASES 79603 \| CERS4 \| DISEASES 79799 \| UGT2A3 \| DISEASES 8723 \| SNX4 \| DISEASES 348 \| APOE \| DISEASES 59272 \| ACE2 \| DISEASES 1463 \| NCAN \| DISEASES 1571 \| CYP2E1 \| DISEASES 10343 \| PKDREJ \| DISEASES 9104 \| RGN \| DISEASES 2670 \| GFAP \| DISEASES 1327 \| COX4I1 \| DISEASES 47 \| ACLY \| DISEASES 2538 \| G6PC \| DISEASES 8431 \| NR0B2 \| DISEASES 3958 \| LGALS3 \| DISEASES 3337 \| DNAJB1 \| DISEASES 8864 \| PER2 \| DISEASES 27183 \| VPS4A \| DISEASES 1401 \| CRP \| DISEASES 64328 \| XPO4 \| DISEASES 10400 \| PEMT \| DISEASES 1116 \| CHI3L1 \| DISEASES 2167 \| FABP4 \| DISEASES 11161 \| C14orf1 \| DISEASES 6272 \| SORT1 \| DISEASES 23175 \| LPIN1 \| DISEASES 10468 \| FST \| DISEASES 10599 \| SLCO1B1 \| DISEASES 53 \| ACP2 \| DISEASES 152831 \| KLB \| DISEASES 50640 \| PNPLA8 \| DISEASES 29923 \| HILPDA \| DISEASES 6610 \| SMPD2 \| DISEASES 64114 \| TMBIM1 \| DISEASES 1593 \| CYP27A1 \| DISEASES 3569 \| IL6 \| DISEASES 570 \| BAAT \| DISEASES 7097 \| TLR2 \| DISEASES 7274 \| TTPA \| DISEASES 6386 \| SDCBP \| DISEASES 2230 \| FDX1 \| DISEASES 64240 \| ABCG5 \| DISEASES 3832 \| KIF11 \| DISEASES 9360 \| PPIG \| DISEASES 55759 \| WDR12 \| DISEASES 30061 \| SLC40A1 \| DISEASES 2581 \| GALC \| DISEASES 5858 \| PZP \| DISEASES 4040 \| LRP6 \| DISEASES 51573 \| GDE1 \| DISEASES 7450 \| VWF \| DISEASES 3074 \| HEXB \| DISEASES 3290 \| HSD11B1 \| DISEASES 1182 \| CLCN3 \| DISEASES 9663 \| LPIN2 \| DISEASES 949 \| SCARB1 \| DISEASES 8766 \| RAB11A \| DISEASES 57045 \| TWSG1 \| DISEASES 54947 \| LPCAT2 \| DISEASES 1659 \| DHX8 \| DISEASES 6416 \| MAP2K4 \| DISEASES 57017 \| COQ9 \| DISEASES 5465 \| PPARA \| DISEASES 3959 \| LGALS3BP \| DISEASES 11043 \| MID2 \| DISEASES 25939 \| SAMHD1 \| DISEASES 3783 \| KCNN4 \| DISEASES 7350 \| UCP1 \| DISEASES 5595 \| MAPK3 \| DISEASES 10998 \| SLC27A5 \| DISEASES 3553 \| IL1B \| DISEASES 1991 \| ELANE \| DISEASES 56902 \| PNO1 \| DISEASES 8647 \| ABCB11 \| DISEASES 3931 \| LCAT \| DISEASES 60482 \| SLC5A7 \| DISEASES 57192 \| MCOLN1 \| DISEASES 175 \| AGA \| DISEASES 1356 \| CP \| DISEASES 6774 \| STAT3 \| DISEASES 2646 \| GCKR \| DISEASES 3383 \| ICAM1 \| DISEASES 10891 \| PPARGC1A \| DISEASES 950 \| SCARB2 \| DISEASES 411 \| ARSB \| DISEASES 26998 \| FETUB \| DISEASES 7879 \| RAB7A \| DISEASES 64083 \| GOLPH3 \| DISEASES 57678 \| GPAM \| DISEASES 793 \| CALB1 \| DISEASES 4547 \| MTTP \| DISEASES 22937 \| SCAP \| DISEASES 1374 \| CPT1A \| DISEASES 38 \| ACAT1 \| DISEASES 54994 \| GID8 \| DISEASES 54509 \| RHOF \| DISEASES 161247 \| FITM1 \| DISEASES 11001 \| SLC27A2 \| DISEASES 597 \| BCL2A1 \| DISEASES 3073 \| HEXA \| DISEASES 5428 \| POLG \| DISEASES 3687 \| ITGAX \| DISEASES 9785 \| DHX38 \| DISEASES 81631 \| MAP1LC3B \| DISEASES 2588 \| GALNS \| DISEASES 4864 \| NPC1 \| DISEASES 7157 \| TP53 \| DISEASES 6647 \| SOD1 \| DISEASES 207 \| AKT1 \| DISEASES 29956 \| CERS2 \| DISEASES 10753 \| CAPN9 \| DISEASES 5972 \| REN \| DISEASES 64241 \| ABCG8 \| DISEASES 805 \| CALM2 \| DISEASES 130120 \| REG3G \| DISEASES 165530 \| CLEC4F \| DISEASES 285362 \| SUMF1 \| DISEASES 5868 \| RAB5A \| DISEASES 185 \| AGTR1 \| DISEASES 2169 \| FABP2 \| DISEASES 635 \| BHMT \| DISEASES 167410 \| LIX1 \| DISEASES 3950 \| LECT2 \| DISEASES 84249 \| PSD2 \| DISEASES 139818 \| DOCK11 \| DISEASES 6770 \| STAR \| DISEASES 123 \| PLIN2 \| DISEASES 3934 \| LCN2 \| DISEASES 6291 \| SAA4 \| DISEASES 726 \| CAPN5 \| DISEASES 9415 \| FADS2 \| DISEASES 3606 \| IL18 \| DISEASES 2180 \| ACSL1 \| DISEASES 7082 \| TJP1 \| DISEASES 55294 \| FBXW7 \| DISEASES 2893 \| GRIA4 \| DISEASES 3087 \| HHEX \| DISEASES 23250 \| ATP11A \| DISEASES 23576 \| DDAH1 \| DISEASES 518 \| ATP5G3 \| DISEASES 351 \| APP \| DISEASES 8714 \| ABCC3 \| DISEASES 5018 \| OXA1L \| DISEASES 5468 \| PPARG \| DISEASES 51422 \| PRKAG2 \| DISEASES 3156 \| HMGCR \| DISEASES 29881 \| NPC1L1 \| DISEASES 1636 \| ACE \| DISEASES 181 \| AGRP \| DISEASES 808 \| CALM3 \| DISEASES 1476 \| CSTB \| DISEASES 56894 \| AGPAT3 \| DISEASES 729230 \| CCR2 \| DISEASES 1234 \| CCR5 \| DISEASES 51 \| ACOX1 \| DISEASES 6352 \| CCL5 \| DISEASES 10825 \| NEU3 \| DISEASES 51035 \| UBXN1 \| DISEASES 6811 \| STX5 \| DISEASES 4041 \| LRP5 \| DISEASES 219931 \| TPCN2 \| DISEASES 9965 \| FGF19 \| DISEASES 7412 \| VCAM1 \| DISEASES 27306 \| HPGDS \| DISEASES 10461 \| MERTK \| DISEASES 2168 \| FABP1 \| DISEASES 213 \| ALB \| DISEASES 51304 \| ZDHHC3 \| DISEASES 79443 \| FYCO1 \| DISEASES 256471 \| MFSD8 \| DISEASES 134429 \| STARD4 \| DISEASES 10569 \| SLU7 \| DISEASES 2171 \| FABP5 \| DISEASES 26266 \| SLC13A4 \| DISEASES 4982 \| TNFRSF11B \| DISEASES 4846 \| NOS3 \| DISEASES 364 \| AQP7 \| DISEASES 84889 \| SLC7A3 \| DISEASES 11067 \| C10orf10 \| DISEASES 83592 \| AKR1E2 \| DISEASES 5267 \| SERPINA4 \| DISEASES 120892 \| LRRK2 \| DISEASES 389941 \| C1QL3 \| DISEASES 121457 \| IKBIP \| DISEASES 6881 \| TAF10 \| DISEASES 1200 \| TPP1 \| DISEASES 146167 \| SLC38A8 \| DISEASES 7184 \| HSP90B1 \| DISEASES 9382 \| COG1 \| DISEASES 4837 \| NNMT \| DISEASES 5346 \| PLIN1 \| DISEASES 2923 \| PDIA3 \| DISEASES 10999 \| SLC27A4 \| DISEASES 10308 \| ZNF267 \| DISEASES 729359 \| PLIN4 \| DISEASES 125981 \| ACER1 \| DISEASES 8435 \| SOAT2 \| DISEASES 10476 \| ATP5H \| DISEASES 1581 \| CYP7A1 \| DISEASES 129642 \| MBOAT2 \| DISEASES 3479 \| IGF1 \| DISEASES 2990 \| GUSB \| DISEASES 3308 \| HSPA4 \| DISEASES 8841 \| HDAC3 \| DISEASES 255738 \| PCSK9 \| DISEASES 3643 \| INSR \| DISEASES 29 \| ABR \| DISEASES 3171 \| FOXA3 \| DISEASES 3094 \| HINT1 \| DISEASES 51362 \| CDC40 \| DISEASES 2194 \| FASN \| DISEASES 79071 \| ELOVL6 \| DISEASES 55283 \| MCOLN3 \| DISEASES 3667 \| IRS1 \| DISEASES 8862 \| APLN \| DISEASES 3627 \| CXCL10 \| DISEASES 2548 \| GAA \| DISEASES 2353 \| FOS \| DISEASES 7369 \| UMOD \| DISEASES 253782 \| CERS6 \| DISEASES 727851 \| RGPD8 \| DISEASES 2720 \| GLB1 \| DISEASES 57521 \| RPTOR \| DISEASES 10067 \| SCAMP3 \| DISEASES 54550 \| NECAB2 \| DISEASES 54205 \| CYCS \| DISEASES 345757 \| FAM174A \| DISEASES 948 \| CD36 \| DISEASES 3159 \| HMGA1 \| DISEASES 79660 \| PPP1R3B \| DISEASES 2147 \| F2 \| DISEASES 48 \| ACO1 \| DISEASES 4023 \| LPL \| DISEASES 3265 \| HRAS \| DISEASES 947 \| CD34 \| DISEASES 5763 \| PTMS \| DISEASES 23209 \| MLC1 \| DISEASES 2829 \| XCR1 \| DISEASES 8722 \| CTSF \| DISEASES 836 \| CASP3 \| DISEASES 7368 \| UGT8 \| DISEASES 1240 \| CMKLR1 \| DISEASES 4245 \| MGAT1 \| DISEASES 7351 \| UCP2 \| DISEASES 10221 \| TRIB1 \| DISEASES 5319 \| PLA2G1B \| DISEASES 133522 \| PPARGC1B \| DISEASES 3952 \| LEP \| DISEASES 835 \| CASP2 \| DISEASES 254102 \| EHBP1L1 \| DISEASES 10645 \| CAMKK2 \| DISEASES 3172 \| HNF4A \| DISEASES 2631 \| GBAS \| DISEASES 80025 \| PANK2 \| DISEASES 8877 \| SPHK1 \| DISEASES 51092 \| SIDT2 \| DISEASES 2907 \| GRINA \| DISEASES 998 \| CDC42 \| DISEASES 2629 \| GBA \| DISEASES 6448 \| SGSH \| DISEASES 26031 \| OSBPL3 \| DISEASES 375757 \| SWI5 \| DISEASES 89872 \| AQP10 \| DISEASES 1582 \| CYP8B1 \| DISEASES 5105 \| PCK1 \| DISEASES 9370 \| ADIPOQ \| DISEASES 51085 \| MLXIPL \| DISEASES 6517 \| SLC2A4 \| DISEASES 4018 \| LPA \| DISEASES 6817 \| SULT1A1 \| DISEASES 3992 \| FADS1 \| DISEASES 202309 \| GAPT \| DISEASES 8706 \| B3GALNT1 \| DISEASES 6514 \| SLC2A2 \| DISEASES 55600 \| ITLN1 \| DISEASES 7352 \| UCP3 \| DISEASES 3309 \| HSPA5 \| DISEASES 2314 \| FLII \| DISEASES 1555 \| CYP2B6 \| DISEASES 6794 \| STK11 \| DISEASES 91012 \| CERS5 \| DISEASES 10494 \| STK25 \| DISEASES 55280 \| CWF19L1 \| DISEASES 10139 \| ARFRP1 \| DISEASES 23400 \| ATP13A2 \| DISEASES 80789 \| INTS5 \| DISEASES 2055 \| CLN8 \| DISEASES 51547 \| SIRT7 \| DISEASES 842 \| CASP9 \| DISEASES 9021 \| SOCS3 \| DISEASES 3953 \| LEPR \| DISEASES 729540 \| RGPD6 \| DISEASES 25834 \| MGAT4C \| DISEASES 1675 \| CFD \| DISEASES 29940 \| DSE \| DISEASES 8694 \| DGAT1 \| DISEASES 256933 \| NPB \| DISEASES 8398 \| PLA2G6 \| DISEASES 3916 \| LAMP1 \| DISEASES 345275 \| HSD17B13 \| DISEASES 3043 \| HBB \| DISEASES 2152 \| F3 \| DISEASES 51738 \| GHRL \| DISEASES 147645 \| VSIG10L \| DISEASES 8856 \| NR1I2 \| DISEASES 468 \| ATF4 \| DISEASES 115286 \| SLC25A26 \| DISEASES 51548 \| SIRT6 \| DISEASES 3988 \| LIPA \| DISEASES 114548 \| NLRP3 \| DISEASES 57104 \| PNPLA2 \| DISEASES 1576 \| CYP3A4 \| DISEASES 4862 \| NPAS2 \| DISEASES 6622 \| SNCA \| DISEASES 23583 \| SMUG1 \| DISEASES 857 \| CAV1 \| DISEASES 5329 \| PLAUR \| DISEASES 8835 \| SOCS2 \| DISEASES 56978 \| PRDM8 \| DISEASES 3423 \| IDS \| DISEASES 5313 \| PKLR \| DISEASES 6609 \| SMPD1 \| DISEASES 80320 \| SP6 \| DISEASES 114897 \| C1QTNF1 \| DISEASES 32 \| ACACB \| DISEASES 54681 \| P4HTM \| DISEASES 2583 \| B4GALNT1 \| DISEASES 55625 \| ZDHHC7 \| DISEASES 51094 \| ADIPOR1 \| DISEASES 27159 \| CHIA \| DISEASES 1544 \| CYP1A2 \| DISEASES 1508 \| CTSB \| DISEASES 145264 \| SERPINA12 \| DISEASES 340485 \| ACER2 \| DISEASES 3146 \| HMGB1 \| DISEASES 9514 \| GAL3ST1 \| DISEASES 545 \| ATR \| DISEASES 3605 \| IL17A \| DISEASES 875 \| CBS \| DISEASES 3638 \| INSIG1 \| DISEASES 31 \| ACACA \| DISEASES 347 \| APOD \| DISEASES 84706 \| GPT2 \| DISEASES 89932 \| PAPLN \| DISEASES 25813 \| SAMM50 \| DISEASES 6166 \| RPL36AL \| DISEASES 10533 \| ATG7 \| DISEASES 84188 \| FAR1 \| DISEASES 100506658 \| OCLN \| DISEASES 7453 \| WARS \| DISEASES 51287 \| COA4 \| DISEASES 26503 \| SLC17A5 \| DISEASES 5265 \| SERPINA1 \| DISEASES 6720 \| SREBF1 \| DISEASES 3240 \| HP \| DISEASES 516 \| ATP5G1 \| DISEASES 8310 \| ACOX3 \| DISEASES 22931 \| RAB18 \| DISEASES 3482 \| IGF2R \| DISEASES 801 \| CALM1 \| DISEASES 79602 \| ADIPOR2 \| DISEASES 2760 \| GM2A \| DISEASES 51529 \| ANAPC11 \| DISEASES 2695 \| GIP \| DISEASES 54097 \| FAM3B \| DISEASES 841 \| CASP8 \| DISEASES 166929 \| SGMS2 \| DISEASES 9332 \| CD163 \| DISEASES 57016 \| AKR1B10 \| DISEASES 60343 \| FAM3A \| DISEASES 23370 \| ARHGEF18 \| DISEASES 1201 \| CLN3 \| DISEASES 7037 \| TFRC \| DISEASES 5599 \| MAPK8 \| DISEASES 1066 \| CES1 \| DISEASES 1803 \| DPP4 \| DISEASES 83468 \| GLT8D2 \| DISEASES 80331 \| DNAJC5 \| DISEASES 58484 \| NLRC4 \| DISEASES 5167 \| ENPP1 \| DISEASES 219972 \| MPEG1 \| DISEASES 6721 \| SREBF2 \| DISEASES 2475 \| MTOR \| DISEASES 9374 \| PPT2 \| DISEASES 10724 \| MGEA5 \| DISEASES 8556 \| CDC14A \| DISEASES 10712 \| FAM189B \| DISEASES 8678 \| BECN1 \| DISEASES 23038 \| WDTC1 \| DISEASES 64216 \| TFB2M \| DISEASES 22796 \| COG2 \| DISEASES 116841 \| SNAP47 \| DISEASES 2853 \| GPR31 \| DISEASES 388743 \| CAPN8 \| DISEASES 127018 \| LYPLAL1 \| DISEASES 6648 \| SOD2 \| DISEASES 1118 \| CHIT1 \| DISEASES 2494 \| NR5A2 \| DISEASES 5743 \| PTGS2 \| DISEASES 64326 \| RFWD2 \| DISEASES 22926 \| ATF6 \| DISEASES 9970 \| NR1I3 \| DISEASES 912 \| CD1D \| DISEASES 632 \| BGLAP \| DISEASES 4580 \| MTX1 \| DISEASES 7059 \| THBS3 \| DISEASES 10924 \| SMPDL3A \| DISEASES 1892 \| ECHS1 \| DISEASES 92565 \| FANK1 \| DISEASES 5654 \| HTRA1 \| DISEASES 1520 \| CTSS \| DISEASES 10628 \| TXNIP \| DISEASES 3158 \| HMGCS2 \| DISEASES 1268 \| CNR1 \| DISEASES 22984 \| PDCD11 \| DISEASES 5309 \| PITX3 \| DISEASES 6319 \| SCD \| DISEASES 1244 \| ABCC2 \| DISEASES 255231 \| MCOLN2 \| DISEASES 959 \| CD40LG \| DISEASES 55361 \| PI4K2A \| DISEASES 51557 \| LGSN \| DISEASES 2239 \| GPC4 \| DISEASES 5688 \| PSMA7 \| DISEASES 27329 \| ANGPTL3 \| DISEASES 1791 \| DNTT \| DISEASES 51361 \| HOOK1 \| DISEASES 3725 \| JUN \| DISEASES 1718 \| DHCR24 \| DISEASES 5950 \| RBP4 \| DISEASES 1376 \| CPT2 \| DISEASES 6342 \| SCP2 \| DISEASES 5770 \| PTPN1 \| DISEASES 5730 \| PTGDS \| DISEASES 284541 \| CYP4A22 \| DISEASES 5728 \| PTEN \| DISEASES 5476 \| CTSA \| DISEASES 57171 \| DOLPP1 \| DISEASES 84885 \| ZDHHC12 \| DISEASES 27232 \| GNMT \| DISEASES 2740 \| GLP1R \| DISEASES 158866 \| ZDHHC15 \| DISEASES 252995 \| FNDC5 \| DISEASES 3065 \| HDAC1 \| DISEASES 55869 \| HDAC8 \| DISEASES 2170 \| FABP3 \| DISEASES 7099 \| TLR4 \| DISEASES 7357 \| UGCG \| DISEASES 158833 \| AWAT1 \| DISEASES 19 \| ABCA1 \| DISEASES 229 \| ALDOB \| DISEASES 54896 \| PQLC2 \| DISEASES 79363 \| RSG1 \| DISEASES 4758 \| NEU1 \| DISEASES 80737 \| VWA7 \| DISEASES 1282 \| COL4A1 \| DISEASES 8660 \| IRS2 \| DISEASES 199 \| AIF1 \| DISEASES 84701 \| COX4I2 \| DISEASES 4524 \| MTHFR \| DISEASES 147798 \| TMC4 \| DISEASES 10897 \| YIF1A \| DISEASES 2512 \| FTL \| DISEASES 6518 \| SLC2A5 \| DISEASES 1203 \| CLN5 \| DISEASES 57704 \| GBA2 \| DISEASES 57380 \| MRS2 \| DISEASES 8559 \| PRPF18 \| DISEASES 83889 \| WDR87 \| DISEASES 2710 \| GK \| DISEASES 79135 \| APOO \| DISEASES 23408 \| SIRT5 \| DISEASES 2308 \| FOXO1 \| DISEASES 153733 \| CCDC112 \| DISEASES 10631 \| POSTN \| DISEASES 6462 \| SHBG \| DISEASES 3030 \| HADHA \| DISEASES 11174 \| ADAMTS6 \| DISEASES 3486 \| IGFBP3 \| DISEASES 347527 \| ARSH \| DISEASES 3717 \| JAK2 \| DISEASES 55344 \| PLCXD1 \| DISEASES 427 \| ASAH1 \| DISEASES 440503 \| PLIN5 \| DISEASES 10457 \| GPNMB \| DISEASES 7436 \| VLDLR \| DISEASES 10284 \| SAP18 \| DISEASES 4155 \| MBP \| DISEASES 23410 \| SIRT3 \| DISEASES 1186 \| CLCN7 \| DISEASES 3875 \| KRT18 \| DISEASES 53345 \| TM6SF2 \| DISEASES 8878 \| SQSTM1 \| DISEASES 4099 \| MAG \| DISEASES 256281 \| NUDT14 \| DISEASES 2539 \| G6PD \| DISEASES 1267 \| CNP \| DISEASES 517 \| ATP5G2 \| DISEASES 8513 \| LIPF \| DISEASES 145957 \| NRG4 \| DISEASES 2319 \| FLOT2 \| DISEASES 5660 \| PSAP \| DISEASES 2875 \| GPT \| DISEASES 6696 \| SPP1 \| DISEASES 983 \| CDK1 \| DISEASES 174 \| AFP \| DISEASES 353274 \| ZNF445 \| DISEASES 4668 \| NAGA \| DISEASES 57584 \| ARHGAP21 \| DISEASES 4780 \| NFE2L2 \| DISEASES 825 \| CAPN3 \| DISEASES 346562 \| GNAT3 \| DISEASES 1305 \| COL13A1 \| DISEASES 375704 \| ENHO \| DISEASES 29780 \| PARVB \| DISEASES 10613 \| ERLIN1 \| DISEASES 7441 \| VPREB1 \| DISEASES 728441 \| GGT2 \| DISEASES 7018 \| TF \| DISEASES 25983 \| NGDN \| DISEASES 2641 \| GCG \| DISEASES 10062 \| NR1H3 \| DISEASES 131578 \| LRRC15 \| DISEASES 5601 \| MAPK9 \| DISEASES 51099 \| ABHD5 \| DISEASES 163131 \| ZNF780B \| DISEASES 3481 \| IGF2 \| DISEASES 197 \| AHSG \| DISEASES 5538 \| PPT1 \| DISEASES 154881 \| KCTD7 \| DISEASES 7124 \| TNF \| DISEASES 2313 \| FLI1 \| DISEASES 4615 \| MYD88 \| DISEASES 2081 \| ERN1 \| DISEASES 10715 \| CERS1 \| DISEASES 3609 \| ILF3 \| DISEASES 6173 \| RPL36A \| DISEASES 9278 \| ZBTB22 \| DISEASES 388372 \| CCL4L1 \| DISEASES 2195 \| FAT1 \| DISEASES 116255 \| MOGAT1 \| DISEASES 22901 \| ARSG \| DISEASES 5830 \| PEX5 \| DISEASES 3920 \| LAMP2 \| DISEASES 63924 \| CIDEC \| DISEASES 34 \| ACADM \| DISEASES 834 \| CASP1 \| DISEASES 2632 \| GBE1 \| DISEASES 3586 \| IL10 \| DISEASES 51527 \| GSKIP \| DISEASES 54677 \| CROT \| DISEASES 63874 \| ABHD4 \| DISEASES 6434 \| TRA2B \| DISEASES 64856 \| VWA1 \| DISEASES 3077 \| HFE \| DISEASES 285148 \| IAH1 \| DISEASES 1316 \| KLF6 \| DISEASES 9367 \| RAB9A \| DISEASES 7019 \| TFAM \| DISEASES 100506742 \| CASP12 \| DISEASES 2110 \| ETFDH \| DISEASES 151306 \| GPBAR1 \| DISEASES 3066 \| HDAC2 \| DISEASES 3551 \| IKBKB \| DISEASES 55331 \| ACER3 \| DISEASES 3684 \| ITGAM \| DISEASES 64426 \| SUDS3 \| DISEASES 283999 \| TMEM235 \| DISEASES 9971 \| NR1H4 \| DISEASES 7421 \| VDR \| DISEASES 1649 \| DDIT3 \| DISEASES 10490 \| VTI1B \| DISEASES 10577 \| NPC2 \| DISEASES 2108 \| ETFA \| DISEASES 3949 \| LDLR \| DISEASES 284424 \| MIR7-3HG \| DISEASES 57733 \| GBA3 \| DISEASES 100302740 \| FAS-AS1 \| DISEASES 348120 \| LINC01193 \| DISEASES 4566 \| MT-TK \| DISEASES 728606 \| PCAT18 \| DISEASES 6053 \| RNR2 \| DISEASES 780853 \| SNORD3C \| DISEASES
Locus	(Waiting for update.)

Disease ID	1308
Disease	lipid storage disease
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0003198 \| Myopathic changes \| 21 HP:0008064 \| Ichthyosis \| 11 HP:0001019 \| Exfoliative dermititis \| 1 HP:0001638 \| Cardiomyopathy \| 1

Disease ID	1308
Disease	lipid storage disease
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:12)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0023794	amitriptyline	D000639	50-48-6	lipidoses	MESH:D008064	marker/mechanism	15342952
C0023794	chloroquine	D002738	1954/5/7	lipidoses	MESH:D008064	marker/mechanism	12673565
C0023794	chlorpromazine	D002746	50-53-3	lipidoses	MESH:D008064	marker/mechanism	15342952
C0023794	citalopram	D015283	59729-33-8	lipidoses	MESH:D008064	marker/mechanism	17567588
C0023794	clozapine	D003024	5786-21-0	lipidoses	MESH:D008064	marker/mechanism	17175557
C0023794	erythromycin	D004917	114-07-8	lipidoses	MESH:D008064	marker/mechanism	17175557
C0023794	fluoxetine	D005473	54910-89-3	lipidoses	MESH:D008064	marker/mechanism	15342952
C0023794	haloperidol	D006220	52-86-8	lipidoses	MESH:D008064	marker/mechanism	17175557
C0023794	imipramine	D007099	50-49-7	lipidoses	MESH:D008064	marker/mechanism	15342952
C0023794	loratadine	D017336	79794-75-5	lipidoses	MESH:D008064	marker/mechanism	17567588
C0023794	propranolol	D011433	525-66-6	lipidoses	MESH:D008064	marker/mechanism	19786086
C0023794	sotalol	D013015	3930-20-9	lipidoses	MESH:D008064	marker/mechanism	17175557

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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