Excel File Text File *Disease is associated/modeled with this Gene or a homolog. More...
      Disease Term Human Homologs Mouse Homologs Mouse Models Homology Source
     alpha-mannosidosis MAN2B1* Man2b1* 1 model Alliance of Genome Resources
aspartylglucosaminuria AGA* Aga* 2 models Alliance of Genome Resources
beta-mannosidosis MANBA* Manba* 1 model Alliance of Genome Resources
Chanarin-Dorfman syndrome ABHD5* Abhd5* 1 model Alliance of Genome Resources
combined saposin deficiency PSAP* Psap* 1 model Alliance of Genome Resources
cystinosis CTNS* Ctns* 1 model Alliance of Genome Resources
Danon disease LAMP2* Lamp2* 3 models Alliance of Genome Resources
Fabry disease GLA* Gla* 3 models Alliance of Genome Resources
Farber lipogranulomatosis ASAH1* Asah1* 3 models Alliance of Genome Resources
fucosidosis FUCA1* Fuca1* 1 model Alliance of Genome Resources
Gaucher's disease GBA1* Gba1* 9 models Alliance of Genome Resources
Gaucher's disease type I GBA1* Gba1* 6 models Alliance of Genome Resources
Gaucher's disease type II GBA1* Gba1* 2 models Alliance of Genome Resources
GM1 gangliosidosis GLB1* Glb1* 3 models Alliance of Genome Resources
GM2 gangliosidosis, AB variant GM2A* Gm2a* 1 model Alliance of Genome Resources
Krabbe disease GALC* Galc* 3 models Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease PNPLA3* Pnpla3* 1 model Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease LEPR* Lepr* 1 model Alliance of Genome Resources
metachromatic leukodystrophy ARSA* Arsa* 1 model Alliance of Genome Resources
mucolipidosis II alpha/beta GNPTAB* Gnptab* 4 models Alliance of Genome Resources
mucolipidosis type IV MCOLN1* Mcoln1* 1 model Alliance of Genome Resources
mucopolysaccharidosis ARSK* Arsk* 1 model Alliance of Genome Resources
mucopolysaccharidosis I IDUA* Idua* 5 models Alliance of Genome Resources
mucopolysaccharidosis II IDS* Ids* 5 models Alliance of Genome Resources
mucopolysaccharidosis III SGSH* Sgsh* 1 model Alliance of Genome Resources
mucopolysaccharidosis III GNS* Gns* 1 model Alliance of Genome Resources
mucopolysaccharidosis III NAGLU* Naglu* 3 models Alliance of Genome Resources
mucopolysaccharidosis IX HYAL1* Hyal1* 1 model Alliance of Genome Resources
mucopolysaccharidosis VI ARSB* Arsb* 3 models Alliance of Genome Resources
mucosulfatidosis SUMF1* Sumf1* 1 model Alliance of Genome Resources
neuronal ceroid lipofuscinosis 1 PPT1* Ppt1* 3 models Alliance of Genome Resources
neuronal ceroid lipofuscinosis 10 CTSD* Ctsd* 4 models Alliance of Genome Resources
neuronal ceroid lipofuscinosis 2 TPP1* Tpp1* 4 models Alliance of Genome Resources
neuronal ceroid lipofuscinosis 3 CLN3* Cln3* 7 models Alliance of Genome Resources
neuronal ceroid lipofuscinosis 5 CLN5* Cln5* 1 model Alliance of Genome Resources
neuronal ceroid lipofuscinosis 6A CLN6* Cln6* 1 model Alliance of Genome Resources
neuronal ceroid lipofuscinosis 7 MFSD8* Mfsd8* 1 model Alliance of Genome Resources
neuronal ceroid lipofuscinosis 8 CLN8* Cln8* 4 models Alliance of Genome Resources
Niemann-Pick disease SMPD1* Smpd1* 2 models Alliance of Genome Resources
Niemann-Pick disease NPC2* Npc2* 3 models Alliance of Genome Resources
Niemann-Pick disease type C1 NPC1* Npc1* 2 models Alliance of Genome Resources
Sandhoff disease HEXB* Hexb* 9 models Alliance of Genome Resources
sialuria SLC17A5* Slc17a5* 1 model Alliance of Genome Resources
Sly syndrome GUSB* Gusb* 8 models Alliance of Genome Resources
Tay-Sachs disease HEXA* Hexa* 3 models Alliance of Genome Resources
Wolman disease LIPA* Lipa* 1 model Alliance of Genome Resources
     glycoproteinosis NEU1 Neu1* 2 models Alliance of Genome Resources
Krabbe disease PSAP Psap* 1 model Alliance of Genome Resources
lysosomal acid lipase deficiency LIPA Lipa* 1 model Alliance of Genome Resources
lysosomal storage disease SLC17A5 Slc17a5* 1 model Alliance of Genome Resources
metabolic dysfunction-associated steatohepatitis KRT18 Krt18* 1 model Alliance of Genome Resources
metabolic dysfunction-associated steatohepatitis MC4R Mc4r* 1 model Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease SIDT2 Sidt2* 1 model Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease PPDPF Ppdpf* 1 model Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease PGRMC1 Pgrmc1* 1 model Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease NLRP3 Nlrp3* 1 model Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease LEP Lep* 1 model Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease Iigp1c* 3 models
metabolic dysfunction-associated steatotic liver disease ALDH1L2 Aldh1l2* 1 model Alliance of Genome Resources
metachromatic leukodystrophy PSAP Psap* 1 model Alliance of Genome Resources
mucopolysaccharidosis ARSG Arsg* 1 model Alliance of Genome Resources
mucopolysaccharidosis III HGSNAT Hgsnat* 1 model Alliance of Genome Resources
mucopolysaccharidosis IV GALNS Galns* 2 models Alliance of Genome Resources
neuronal ceroid lipofuscinosis PPT2 Ppt2* 1 model Alliance of Genome Resources
neuronal ceroid lipofuscinosis 3 CLCN3 Clcn3* 1 model Alliance of Genome Resources
neuronal ceroid lipofuscinosis 3 PPT1 Ppt1* 1 model Alliance of Genome Resources
neuronal ceroid lipofuscinosis 3 CLCN6 Clcn6* 1 model Alliance of Genome Resources
Niemann-Pick disease NPC1 Npc1* 17 models Alliance of Genome Resources
Niemann-Pick disease fm* 1 model
steatotic liver disease MC4R Mc4r* 1 model Alliance of Genome Resources
steatotic liver disease PLAU Plau* 1 model Alliance of Genome Resources
steatotic liver disease PTEN Pten* 2 models Alliance of Genome Resources
steatotic liver disease SIRT1 Sirt1* 1 model Alliance of Genome Resources
steatotic liver disease LEP Lep* 1 model Alliance of Genome Resources
steatotic liver disease LDLR Ldlr* 1 model Alliance of Genome Resources
steatotic liver disease IKBKG Ikbkg* 1 model Alliance of Genome Resources
steatotic liver disease ADK Adk* 1 model Alliance of Genome Resources
steatotic liver disease LGALS3 Lgals3* 1 model Alliance of Genome Resources
steatotic liver disease LRP6 Lrp6* 1 model Alliance of Genome Resources
     atypical Gaucher's disease due to saposin c deficiency PSAP* Psap   Alliance of Genome Resources
cerebrotendinous xanthomatosis CYP27A1* Cyp27a1   Alliance of Genome Resources
cholesterol ester storage disease LIPA* Lipa   Alliance of Genome Resources
Fabry disease ACE* Ace   Alliance of Genome Resources
Fabry disease VDR* Vdr   Alliance of Genome Resources
Fabry disease IL1A* Il1a   Alliance of Genome Resources
Fabry disease AGT* Agt   Alliance of Genome Resources
galactosialidosis CTSA* Ctsa   Alliance of Genome Resources
Gaucher's disease TNF* Tnf   Alliance of Genome Resources
Gaucher's disease PKLR* Pklr   Alliance of Genome Resources
Gaucher's disease perinatal lethal GBA1* Gba1   Alliance of Genome Resources
Gaucher's disease type III GBA1* Gba1   Alliance of Genome Resources
Gaucher's disease type IIIC GBA1* Gba1   Alliance of Genome Resources
glycoproteinosis MCOLN1* Mcoln1   Alliance of Genome Resources
glycoproteinosis GNPTG* Gnptg   Alliance of Genome Resources
GM1 gangliosidosis type 1 GLB1* Glb1   Alliance of Genome Resources
GM1 gangliosidosis type 2 GLB1* Glb1   Alliance of Genome Resources
GM1 gangliosidosis type 3 GLB1* Glb1   Alliance of Genome Resources
GM2 gangliosidosis GM2A* Gm2a   Alliance of Genome Resources
Kanzaki disease NAGA* Naga   Alliance of Genome Resources
lysosomal storage disease CTSA* Ctsa   Alliance of Genome Resources
lysosomal storage disease AGA* Aga   Alliance of Genome Resources
metabolic dysfunction-associated steatohepatitis APOA1* Apoa1   Alliance of Genome Resources
metabolic dysfunction-associated steatohepatitis SOD2* Sod2   Alliance of Genome Resources
metabolic dysfunction-associated steatohepatitis SERPINF1* Serpinf1   Alliance of Genome Resources
metabolic dysfunction-associated steatohepatitis LEPR* Lepr   Alliance of Genome Resources
metabolic dysfunction-associated steatohepatitis IL10* Il10   Alliance of Genome Resources
metabolic dysfunction-associated steatohepatitis IL6* Il6   Alliance of Genome Resources
metabolic dysfunction-associated steatohepatitis HTR2B* Htr2b   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease ABCC2* Abcc2   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease ADIPOQ* Adipoq   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease ADIPOR2* Adipor2   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease ADRB3* Adrb3   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease AKT1* Akt1   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease ALDH2* Aldh2   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease CCR2* Ccr2   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease DGAT2* Dgat2   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease HFE* Hfe   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease IFNL4*  
metabolic dysfunction-associated steatotic liver disease IL1B* Il1b   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease IL6* Il6   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease MTHFR* Mthfr   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease MTTP* Mttp   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease PPARGC1A* Ppargc1a   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease SAMM50* Samm50   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease SOD2* Sod2   Alliance of Genome Resources
metabolic dysfunction-associated steatotic liver disease TG* Tg   Alliance of Genome Resources
metachromatic leukodystrophy MAL* Mal   Alliance of Genome Resources
mucolipidosis NEU1* Neu1   Alliance of Genome Resources
mucolipidosis III alpha/beta GNPTAB* Gnptab   Alliance of Genome Resources
mucolipidosis III gamma GNPTG* Gnptg   Alliance of Genome Resources
mucopolysaccharidosis HYAL1* Hyal1   Alliance of Genome Resources
mucopolysaccharidosis Ih IDUA* Idua   Alliance of Genome Resources
mucopolysaccharidosis Ih/s IDUA* Idua   Alliance of Genome Resources
mucopolysaccharidosis III COASY* Coasy   Alliance of Genome Resources
mucopolysaccharidosis IV GLB1* Glb1   Alliance of Genome Resources
mucopolysaccharidosis IVA GALNS* Galns   Alliance of Genome Resources
mucopolysaccharidosis type IIIA SGSH* Sgsh   Alliance of Genome Resources
mucopolysaccharidosis type IIIB NAGLU* Naglu   Alliance of Genome Resources
mucopolysaccharidosis type IIIC HGSNAT* Hgsnat   Alliance of Genome Resources
mucopolysaccharidosis type IIID GNS* Gns   Alliance of Genome Resources
mucopolysaccharidosis type IVB GLB1* Glb1   Alliance of Genome Resources
neuronal ceroid lipofuscinosis CLN6* Cln6   Alliance of Genome Resources
neuronal ceroid lipofuscinosis SOD2* Sod2   Alliance of Genome Resources
neuronal ceroid lipofuscinosis 11 GRN* Grn   Alliance of Genome Resources
neuronal ceroid lipofuscinosis 13 CTSF* Ctsf   Alliance of Genome Resources
neuronal ceroid lipofuscinosis 4 DNAJC5* Dnajc5   Alliance of Genome Resources
neuronal ceroid lipofuscinosis 6B CLN6* Cln6   Alliance of Genome Resources
neuronal ceroid lipofuscinosis 8 northern epilepsy variant CLN8* Cln8   Alliance of Genome Resources
Niemann-Pick disease type A SMPD1* Smpd1   Alliance of Genome Resources
Niemann-Pick disease type B SMPD1* Smpd1   Alliance of Genome Resources
Niemann-Pick disease type C2 NPC2* Npc2   Alliance of Genome Resources
Scheie syndrome IDUA* Idua   Alliance of Genome Resources
Schindler disease type 1 NAGA* Naga   Alliance of Genome Resources
sea-blue histiocytosis APOE* Apoe   Alliance of Genome Resources
sialuria GNE* Gne   Alliance of Genome Resources
Siddiqi syndrome FITM2* Fitm2   Alliance of Genome Resources
sphingolipidosis ASAH1* Asah1   Alliance of Genome Resources
steatotic liver disease HTR2B* Htr2b   Alliance of Genome Resources
steatotic liver disease HTR2A* Htr2a   Alliance of Genome Resources
steatotic liver disease HADHA* Hadha   Alliance of Genome Resources
steatotic liver disease CYP2E1* Cyp2e1   Alliance of Genome Resources
steatotic liver disease ADRB2* Adrb2   Alliance of Genome Resources
steatotic liver disease VDR* Vdr   Alliance of Genome Resources
steatotic liver disease MTHFR* Mthfr   Alliance of Genome Resources
steatotic liver disease PNPLA3* Pnpla3   Alliance of Genome Resources
steatotic liver disease PRKCD* Prkcd   Alliance of Genome Resources

 
Transgenes and other genome features developed in mice to model this disease.
     Disease Term Transgenes and Other Genome Features Mouse Models
  metabolic dysfunction-associated steatotic liver disease Tg(Alb-SREBF1_ic)#Jkot 1 model
  metabolic dysfunction-associated steatotic liver disease Tg(aP2-SREBF1c)9884Reh 1 model
  Sandhoff disease Tg(SYN1-tTA2S,tetO-Hexb)#Tjsa 1 model
  Sandhoff disease Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa 1 model
  steatotic liver disease Tg(Mup3-Plau)350-2Eps 1 model
  steatotic liver disease Tg(Alb-PDGFC)#Jcam 1 model