Category |
Gene |
Chromosome |
Location |
Syndrome |
Copper metabolism defects | AFP | 4 | q13.3 | Alpha-fetoprotein hereditary persistence (HPAFP) | |
Copper metabolism defects | ATP7A | 23 | q21.1 | Menkes syndrome. | |
Copper metabolism defects | ATP7B | 13 | q14.3 | Wilson Disease - copper | |
Copper metabolism defects | CCDC22 | 23 | p11.23 | Ritscher-Schinzel syndrome 2 (RTSC2) | |
Copper metabolism defects | PRNP | 20 | p13 | Wilson Disease - copper | |
Copper metabolism defects | SOD1 | 21 | q22.1 | Amyotrophic lateral sclerosis (ALS) | |
Copper metabolism defects | STEAP3 | 2 | q14.2 | Hypochromic microcytic anemia with iron overload 2 (AHMIO2) | |
Copper metabolism defects | WASHC5 | 8 | q24.13 | Spastic paraplegia type 8 | |
Dyslexia | DCDC2 | 6 | p22.3 | Dyslexia type 2 | |
Dyslexia | DNAAF4 | 15 | q21.3 | Dyslexia type 1 | |
Dyslexia | KIAA0319 | 6 | p22.3 | Dyslexia type 2 | |
Encephalitis | CACNA1H | 16 | p13.3 | childhood absence epilepsy 6 | |
Encephalitis | RANBP2 | 2 | q13 | Acute necrotizing encephalopathy type 1 | |
Encephalitis | STAT1 | 2 | q32.2 | familial candidiasis (yeast infections) | |
Encephalitis | UNC93B1 | 11 | q13.2 | Herpes simplex encephalitis 1 (HSE1) | |
Fibrochondrogenesis | COL11A1 | 1 | p21.1 | Fibrochondrogenesis type 1 | |
Fibrochondrogenesis | COL11A2 | 6 | p21.32 | Fibrochondrogenesis type 2 | |
Galactosemia | GALE | 1 | p36.11 | Galactosemia (type III) | |
Galactosemia | GALK1 | 17 | q25.1 | Galactosemia (type II) | |
Galactosemia | GALT | 9 | p13.3 | Galactosemia (type I) | |
Gluten intolerance | HLA-DQA1 | 6 | p21.3 | Gluten allergy | |
Gluten intolerance | HLA-DQB1 | 6 | p21.3 | Gluten allergy | |
Gluten intolerance | RMRP | 9 | p13.3 | Gluten allergy | |
Guillain-Barre spectrum | CASP10 | 2 | q33.1 | Autoimmune lymphoproliferative syndrome | |
Guillain-Barre spectrum | CASP8 | 2 | q33.1 | Autoimmune lymphoproliferative syndrome | |
Guillain-Barre spectrum | FAS | 10 | q23.31 | Autoimmune lymphoproliferative syndrome | |
Guillain-Barre spectrum | FASLG | 1 | q24.3 | Autoimmune lymphoproliferative syndrome | |
Guillain-Barre spectrum | KRAS | 12 | p12.1 | Autoimmune lymphoproliferative syndrome | |
Guillain-Barre spectrum | NRAS | 1 | p13.2 | Autoimmune lymphoproliferative syndrome | |
Guillain-Barre spectrum | TNF | 6 | p21.33 | Guillain-Barré syndrome | |
Huntington`s disease spectrum | CASP8 | 2 | q33.1 | Huntington`s disease | |
Huntington`s disease spectrum | HIP1 | 7 | q11.23 | Huntington`s disease | |
Huntington`s disease spectrum | HTT | 4 | p16.3 | Huntington`s disease | |
Huntington`s disease spectrum | JPH3 | 16 | q24.2 | Huntington disease-like syndrome type 2 | |
Huntington`s disease spectrum | KALRN | 3 | q21.1 | Huntington`s disease | |
Huntington`s disease spectrum | PFN1 | 17 | p13.2 | Huntington`s disease | |
Huntington`s disease spectrum | PRNP | 20 | p13 | Huntington disease-like syndrome type 1 | |
Huntington`s disease spectrum | SETD2 | 3 | p21.31 | Huntington`s disease | |
Huntington`s disease spectrum | TBP | 6 | q27 | Huntington disease-like syndrome type 4 | |
Huntington`s disease spectrum | TSPAN7 | 23 | p11.4 | Huntington`s disease | |
Hyperlipidemia | AGL | 1 | p21.2 | Glycogen storage disease type III | |
Hyperlipidemia | CAT | 11 | p13 | Acatalasemia | |
Hyperlipidemia | G6PC | 17 | q21.31 | Glycogen storage disease type I | |
Hyperlipidemia | LIPC | 15 | q21.3 | Hepatic lipase deficiency | |
Hyperlipidemia | LPL | 8 | p21.3 | Familial lipoprotein lipase deficiency | |
Hyperlipidemia | SLC37A4 | 11 | q23.3 | Glycogen storage disease type I | |
Hyperlipidemia | USF1 | 1 | q23.3 | Hyperlipidemia combined 1 | |
Hyperthyroidism | CD40 | 20 | q13.12 | Graves disease - overactive thyroid | |
Hyperthyroidism | CTLA4 | 2 | q33.2 | Graves disease - overactive thyroid | |
Hyperthyroidism | FOXP3 | 23 | p11.23 | IPEX immune dysregulation polyendocrinopathy enteropathy X-linked syndrome | |
Hyperthyroidism | GNAS | 20 | q13.32 | McCune-Albright syndrome (overactive thyroid) | |
Hyperthyroidism | HLA-DRB1 | 6 | p21.32 | Graves disease - overactive thyroid | |
Hyperthyroidism | IL2RA | 10 | p15.1 | Graves disease - overactive thyroid | |
Hyperthyroidism | PTPN22 | 1 | p13.2 | Graves disease - overactive thyroid | |
Hyperthyroidism | SCGB3A2 | 5 | q32 | Graves disease - overactive thyroid | |
Hyperthyroidism | TG | 8 | q24.22 | Graves disease - overactive thyroid | |
Hyperthyroidism | TSHR | 14 | q31.1 | Graves disease - overactive thyroid | |
Lactose intolerance | LCT | 2 | q21 | Lactase deficiency | |
Lactose intolerance | MCM6 | 2 | q21 | Lactase deficiency | |
Leukemia | ABL1 | 9 | q34.12 | Acute lymphoblastic leukemia | |
Leukemia | BCR | 22 | q11.23 | Acute lymphoblastic leukemia | |
Leukemia | ETV6 | 12 | p13.2 | Acute myeloid leukemia | |
Leukemia | NTRK3 | 15 | q25.3 | Acute myeloid leukemia | |
Leukemia | PML | 15 | q24.1 | Acute lymphoblastic leukemia | |
Leukemia | RARA | 17 | q21.2 | Acute lymphoblastic leukemia | |
Leukemia | RUNX1 | 21 | q22.12 | Acute myeloid leukemia | |
Leukemia | RUNX1T1 | 8 | q22 | Acute lymphoblastic leukemia | |
Microphthalmia | B3GALNT2 | 1 | q42.3 | Walker-Warburg syndrome | |
Microphthalmia | B4GAT1 | 11 | q13.2 | Walker-Warburg syndrome | |
Microphthalmia | BMP4 | 14 | q22.2 | Microphthalmia syndromic 6 (MCOPS6) | |
Microphthalmia | DAG1 | 3 | p21.31 | Walker-Warburg syndrome | |
Microphthalmia | FKRP | 19 | q13.32 | Walker-Warburg syndrome | |
Microphthalmia | GDF3 | 12 | p13.31 | Microphthalmia isolated with coloboma 3 (MCOPCB3) | |
Microphthalmia | GDF6 | 8 | q22.1 | Microphthalmia isolated with coloboma 3 (MCOPCB3) | |
Microphthalmia | ISPD | 7 | p21.2 | Walker-Warburg syndrome | |
Microphthalmia | LARGE1 | 22 | q12.3 | Walker-Warburg syndrome | |
Microphthalmia | MFRP | 11 | q23.3 | Microphthalmia isolated 5 (MCOP5) | |
Microphthalmia | OTX2 | 14 | q22.3 | Microphthalmia isolated with coloboma 3 (MCOPCB3) | |
Microphthalmia | POMGNT1 | 1 | p34.1 | Walker-Warburg syndrome | |
Microphthalmia | POMGNT2 | 3 | p22.1 | Walker-Warburg syndrome | |
Microphthalmia | POMK | 8 | p11.21 | Walker-Warburg syndrome | |
Microphthalmia | POMT1 | 9 | q34.13 | Walker-Warburg syndrome | |
Microphthalmia | POMT2 | 14 | q24.3 | Walker-Warburg syndrome | |
Microphthalmia | PRSS56 | 2 | q37.1 | Microphthalmia syndromic 6 (MCOPS6) | |
Microphthalmia | RAX | 18 | q21.32 | Microphthalmia syndromic 6 (MCOPS6) | |
Microphthalmia | RXYLT1 | 12 | q14.2 | Walker-Warburg syndrome | |
Microphthalmia | SIX6 | 14 | q23.1 | Isolated microphthalmia with cataract type 2 (MCOPCT2) | |
Microphthalmia | SOX2 | 3 | q26.33 | Microphthalmia syndromic 6 (MCOPS6) | |
Microphthalmia | STRA6 | 15 | q24.1 | Microphthalmia isolated with coloboma 3 (MCOPCB3) | |
Microphthalmia | VSX2 | 14 | q24.3 | Microphthalmia isolated with coloboma 3 (MCOPCB3) | |
Muscular dystrophies | BAG3 | 10 | q26.11 | Myofibrillar myopathy | |
Muscular dystrophies | CRYAB | 11 | q23.1 | Myofibrillar myopathy | |
Muscular dystrophies | DES | 2 | q35 | Myofibrillar myopathy | |
Muscular dystrophies | FLNC | 7 | q32.1 | Myofibrillar myopathy | |
Muscular dystrophies | LDB3 | 10 | q23.2 | Myofibrillar myopathy | |
Muscular dystrophies | MYOT | 5 | q31.2 | Myofibrillar myopathy | |
Muscular dystrophies | PABPN1 | 14 | q11.2 | Oculopharyngeal muscular dystrophy | |
Neurofibromatosis | NF1 | 17 | q11.2 | neurofibromatosis type 1 | |
Pervasive Developmental Delay | BAZ2B | 2 | q24.2 | Narcissistic Personality Disorder | |
Pervasive Developmental Delay | GPX1 | 3 | p21.31 | Glutathione peroxidase deficiency | |
Pervasive Developmental Delay | NLGN2 | 17 | p13.1 | Pervasive Developmental Delay - not otherwise specified | |
Pervasive Developmental Delay | NRXN2 | 11 | q13.1 | Pervasive Developmental Delay - not otherwise specified | |
Pervasive Developmental Delay | NRXN3 | 14 | q24.3 | Pervasive Developmental Delay - not otherwise specified | |
Polymorphous light eruption | GGT1 | 11 | q11.23 | gamma-Glutamyltransferase deficiency | |
Polymorphous light eruption | GSR | 8 | p12 | gamma-Glutamyltransferase deficiency | |
Rhizomelic chondrodysplasia punctata | AGPS | 2 | q31.2 | Rhizomelic chondrodysplasia punctata type 3 | |
Rhizomelic chondrodysplasia punctata | GNPAT | 1 | q42.2 | Rhizomelic chondrodysplasia punctata type 2 | |
Rhizomelic chondrodysplasia punctata | PEX7 | 6 | q23.3 | Rhizomelic chondrodysplasia punctata type 1 | |
Schizophrenia | NTXN1 | 2 | p16.3 | Schizophrenia 17 | |
Trisomies (Down Syndrome) spectrum | all | 21 | p and q | Down syndrome | |
Trisomies (Down Syndrome) spectrum | DSCAM | 21 | q22 | Down syndrome | |