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Human Gene IDSymbolDruggable*Gene DescriptionDisease**OMIM IDZebrafish Gene ID, Insertions
ENSG00000000419DPM1-Dolichol-phosphate mannosyltransferase (EC 2.4.1.83) (Dolichol- phosphate mannose synthase) (Dolichyl-phosphate beta-D- mannosyltransferase) (Mannose-P-dolichol synthase) (MPD synthase) (DPM synthase). [Source:Uniprot/SWISSPROT;Acc:O60762]Congenital disorder of glycosylation, type Ie, 608799 (3)603503 ENSDARG00000057011   intron(s);
ENSG00000001084GCLC-Glutamate--cysteine ligase catalytic subunit (EC 6.3.2.2) (Gamma- glutamylcysteine synthetase) (Gamma-ECS) (GCS heavy chain). [Source:Uniprot/SWISSPROT;Acc:P48506]Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3)606857 ENSDARG00000013095   exon(s), intron(s), promoter;
ENSG00000001626CFTR+Cystic fibrosis transmembrane conductance regulator (CFTR) (cAMP- dependent chloride channel) (ATP-binding cassette transporter sub- family C member 7). [Source:Uniprot/SWISSPROT;Acc:P13569]{Pancreatitis, idiopathic} (3)602421 ENSDARG00000041107   promoter;
ENSG00000002822MAD1L1-Mitotic spindle assembly checkpoint protein MAD1 (Mitotic arrest deficient-like protein 1) (MAD1-like 1) (Mitotic checkpoint MAD1 protein-homolog) (HsMAD1) (hMAD1) (Tax-binding protein 181). [Source:Uniprot/SWISSPROT;Acc:Q9Y6D9]Prostate cancer, somatic, 176807 (3)602686 ENSDARG00000033852   exon(s), intron(s);
ENSG00000004848ARX-Homeobox protein ARX (Aristaless-related homeobox). [Source:Uniprot/SWISSPROT;Acc:Q96QS3]Proud syndrome, 300004 (3)300382 ENSDARG00000058011   intron(s);
ENSG00000004864SLC25A13-Calcium-binding mitochondrial carrier protein Aralar2 (Mitochondrial aspartate glutamate carrier 2) (Solute carrier family 25 member 13) (Citrin). [Source:Uniprot/SWISSPROT;Acc:Q9UJS0]Citrullinemia, type II, neonatal-onset, 605814 (3)603859 ENSDARG00000070172   intron(s);
ENSG00000004939SLC4A1-Band 3 anion transport protein (Anion exchange protein 1) (AE 1) (Solute carrier family 4 member 1) (CD233 antigen). [Source:Uniprot/SWISSPROT;Acc:P02730][Elliptocytosis, Malaysian-Melanesian type] (3)109270 ENSDARG00000024560   intron(s);
ENSDARG00000012881   intron(s);
ENSG00000004961HCCS-Cytochrome c-type heme lyase (EC 4.4.1.17) (CCHL) (Holocytochrome c- type synthase). [Source:Uniprot/SWISSPROT;Acc:P53701]Microphthalmia, syndromic 7, 309801 (3)300056 ENSDARG00000028131   intron(s);
ENSDARG00000003051   intron(s);
ENSG00000005073HOXA11-Homeobox protein Hox-A11 (Hox-1I). [Source:Uniprot/SWISSPROT;Acc:P31270]Radioulnar synostosis with amegakaryocytic thrombocytopenia, 605432 (3)142958 ENSDARG00000007009   exon(s), intron(s), promoter;
ENSDARG00000009045   exon(s);
ENSG00000005381MPO+Myeloperoxidase precursor (EC 1.11.1.7) (MPO) [Contains: 89 kDa myeloperoxidase; 84 kDa myeloperoxidase; Myeloperoxidase light chain; Myeloperoxidase heavy chain]. [Source:Uniprot/SWISSPROT;Acc:P05164]{Lung cancer, protection against, in smokers} (3)606989 ENSDARG00000012535   intron(s);
ENSG00000005471ABCB4+Multidrug resistance protein 3 (EC 3.6.3.44) (ATP-binding cassette sub-family B member 4) (P-glycoprotein 3). [Source:Uniprot/SWISSPROT;Acc:P21439]Gallbladder disease 1, 600803 (3)171060 ENSDARG00000010936   intron(s);
ENSG00000006611USH1C-Harmonin (Usher syndrome type-1C protein) (Autoimmune enteropathy- related antigen AIE-75) (Antigen NY-CO-38/NY-CO-37) (PDZ-73 protein) (Renal carcinoma antigen NY-REN-3). [Source:Uniprot/SWISSPROT;Acc:Q9Y6N9]Usher syndrome, type 1C, 276904 (3)605242 ENSDARG00000051876   exon(s);
ENSG00000006638TBXA2R+Thromboxane A2 receptor (TXA2-R) (Prostanoid TP receptor). [Source:Uniprot/SWISSPROT;Acc:P21731]Bleeding disorder due to defective thromboxane A2 receptor (3)188070 ENSDARG00000058634   intron(s);
ENSG00000006695COX10-Protoheme IX farnesyltransferase, mitochondrial precursor (EC 2.5.1.-) (Heme O synthase). [Source:Uniprot/SWISSPROT;Acc:Q12887]Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome c oxidase deficiency (3)602125 ENSDARG00000034309   exon(s);
ENSG00000007062PROM1-Prominin-1 precursor (Prominin-like protein 1) (Antigen AC133) (CD133 antigen). [Source:Uniprot/SWISSPROT;Acc:O43490]Retinal degeneration, autosomal recessive, prominin-related (3)604365 ENSDARG00000039966   intron(s);
ENSG00000007168PAFAH1B1-Platelet-activating factor acetylhydrolase IB subunit alpha (PAF acetylhydrolase 45 kDa subunit) (PAF-AH 45 kDa subunit) (PAF-AH alpha) (PAFAH alpha) (Lissencephaly-1 protein) (LIS-1). [Source:Uniprot/SWISSPROT;Acc:P43034]Subcortical laminar heterotopia (3)601545 ENSDARG00000032013   intron(s);
ENSDARG00000026595   exon(s), intron(s), promoter;
ENSG00000007171NOS2A-Nitric oxide synthase, inducible (EC 1.14.13.39) (NOS type II) (Inducible NO synthase) (Inducible NOS) (iNOS) (Hepatocyte NOS) (HEP- NOS). [Source:Uniprot/SWISSPROT;Acc:P35228]{Malaria, resistance to}, 611162 (3)163730 ENSDARG00000026925   intron(s);
ENSG00000007314SCN4A+Sodium channel protein type 4 subunit alpha (Sodium channel protein type IV subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.4) (Sodium channel protein, skeletal muscle subunit alpha) (SkM1). [Source:Uniprot/SWISSPROT;Acc:P35499]Paramyotonia congenita, 168300 (3)603967 ENSDARG00000034588   exon(s), intron(s);
ENSG00000007350TKTL1-Transketolase-like protein 1 (EC 2.2.1.1) (Transketolase 2) (TK 2) (Transketolase-related protein). [Source:Uniprot/SWISSPROT;Acc:P51854]{?Wernicke-Korsakoff syndrome, susceptibility to} (1)300044 ENSDARG00000006019   exon(s), intron(s), promoter;
ENSG00000007372PAX6-Paired box protein Pax-6 (Oculorhombin) (Aniridia type II protein). [Source:Uniprot/SWISSPROT;Acc:P26367]Peters anomaly, 603807 (3)607108 ENSDARG00000045045   exon(s), intron(s);
ENSDARG00000045936   intron(s);

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*Reference: Ryan R. Brinkman, Marie-Pierre Dube, Guy A. Rouleau, Andrew C. Orr & mark E. Samuels. Human monogenic disorders - a source of novel drug targets. Nature Reviews Genetics 7, 249-260, 2006.
**Disease gene list is based on NCBI's morbidmap file from the OMIM database.


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