disease name | human gene symbol | chicken gene symbol |
|---|
| von Willebrand disease, type 1 | VWF | VWF |
| von Willebrand disease, types 2A, 2B, 2M, and 2N | VWF | VWF |
| von Willibrand disease, type 3 | VWF | VWF |
| Spondylocostal dysostosis, autosomal recessive 2 | MESP2 | MESP2 |
| {Autoimmune thyroid disease, susceptibility to, 3} | ZFAT1 | ZFAT |
| Mucopolysaccharidosis type IX | HYAL1 | HYAL1 |
| {Breast cancer, susceptibility to} | BARD1 | BARD1 |
| Mental retardation, autosomal recessive 2 | CRBN | CRBN |
| Narcolepsy 1 | HCRT | HCRT |
| Fraser syndrome | FRAS1 | FRAS1 |
| Pontocerebellar hypoplasia type 1A | VRK1 | VRK1 |
| Cerebral palsy, spastic quadriplegic, 1 | GAD1 | GAD1 |
| Deafness, autosomal recessive 25 | GRXCR1 | GRXCR1 |
| Anterior segment mesenchymal dysgenesis | FOXE3 | FOXE3 |
| Aphakia, congenital primary | FOXE3 | FOXE3 |
| Bare lymphocyte syndrome, type II, complementation group A | MHC2TA | CIITA |
| {Rheumatoid arthritis, susceptibility to} | MHC2TA | CIITA |
| Night blindness, congenital stationary, type 1A | NYX | NYX |
| Dowling-Degos disease | KRT5 | KRT5 |
| Epidermolysis bullosa simplex with migratory circinate erythema | KRT5 | KRT5 |
| Epidermolysis bullosa simplex with mottled pigmentation | KRT5 | KRT5 |
| Epidermolysis bullosa simplex, Dowling-Meara type | KRT5 | KRT5 |
| Epidermolysis bullosa simplex, Koebner type | KRT5 | KRT5 |
| Epidermolysis bullosa simplex, Weber-Cockayne type | KRT5 | KRT5 |
| Doyne honeycomb degeneration of retina | EFEMP1 | EFEMP1 |
| Rhabdomyosarcoma 2, alveolar | PAX7 | PAX7 |
| Meier-Gorlin syndrome 2 | ORC4 | ORC4 |
| Mowat-Wilson syndrome | ZEB2 | ZEB2 |
| Maturity-onset diabetes of the young 6 | NEUROD1 | NEUROD1 |
| {Diabetes mellitus, noninsulin-dependent} | NEUROD1 | NEUROD1 |
| Diabetes insipidus, neurohypophyseal | AVP | AVP |
| Epilepsy, pyridoxine-dependent | ALDH7A1 | ALDH7A1 |
| Cardiomyopathy, dilated, 1M | CSRP3 | CSRP3 |
| Cardiomyopathy, familial hypertrophic, 12 | CSRP3 | CSRP3 |
| Chondrosarcoma, extraskeletal myxoid | TAF15 | TAF15 |
| Hypoparathyroidism, sensorineural deafness, and renal dysplasia | GATA3 | GATA3 |
| Hypotrichosis, localized, autosomal recessive 2 | LIPH | LIPH |
| Woolly hair, autosomal recessive 2 with or without hypotrichosis | LIPH | LIPH |
| Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | PRG4 | PRG4 |
| Adenomas, salivary gland pleomorphic | PLAG1 | PLAG1 |
| Congenital disorder of glycosylation, type Ib | MPI | MPI |
| Atrial fibrillation, familial, 4 | KCNE2 | KCNE2 |
| Long QT syndrome-6 | KCNE2 | KCNE2 |
| Osteolysis, familial expansile | TNFRSF11A | TNFRSF11A |
| Osteopetrosis, autosomal recessive 7 | TNFRSF11A | TNFRSF11A |
| Paget disease of bone | TNFRSF11A | TNFRSF11A |
| Lysinuric protein intolerance | SLC7A7 | SLC7A7 |
| Acromegaly | GNAS | GNAS |
| ACTH-independent macronodular adrenal hyperplasia | GNAS | GNAS |
| McCune-Albright syndrome | GNAS | GNAS |
| Osseous heteroplasia, progressive | GNAS | GNAS |
| Pseudohypoparathyroidism Ia | GNAS | GNAS |
| Pseudohypoparathyroidism Ib | GNAS | GNAS |
| Pseudohypoparathyroidism Ic | GNAS | GNAS |
| Pseudopseudohypoparathyroidism | GNAS | GNAS |
| Asphyxiating thoracic dystrophy 2 | IFT80 | IFT80 |
| Leukemia, acute myelogenous | JAK2 | JAK2 |
| Myelofibrosis, idiopathic | JAK2 | JAK2 |
| Polycythemia vera | JAK2 | JAK2 |
| Thrombocythemia 3 | JAK2 | JAK2 |
| {Budd-Chiari syndrome} | JAK2 | JAK2 |
| Glaucoma 3A, primary congenital | CYP1B1 | CYP1C1 |
| Glaucoma, primary open angle, adult-onset | CYP1B1 | CYP1C1 |
| Glaucoma, primary open angle, juvenile-onset | CYP1B1 | CYP1C1 |
| Peters anomaly | CYP1B1 | CYP1C1 |
| 46XY sex reversal 6 | MAP3K1 | MAP3K1 |
| Nasu-Hakola disease | TREM2 | TREM2 |
| Ichthyosis, congenital, autosomal recessive | NIPAL4 | NIPAL4 |
| Reticular dysgenesis | AK2 | AK2 |
| Lymphoproliferative syndrome, X-linked, 2 | XIAP | XIAP |
| Cone dystrophy-3 | GUCA1A | GUCA1A |
| Cone-rod dystrophy 14 | GUCA1A | GUCA1A |
| Bronchiectasis with or without elevated sweat chloride 1 | SCNN1B | SCNN1B |
| Liddle syndrome | SCNN1B | SCNN1B |
| Pseudohypoaldosteronism, type I | SCNN1B | SCNN1B |
| Deafness, X-linked 1 | SCNN1B | PRPS1 |
| Mental retardation, autosomal recessive 13 | TRAPPC9 | TRAPPC9 |
| Porphyria, acute intermittent | HMBS | HMBS |
| Porphyria, acute intermittent, nonerythroid variant | HMBS | HMBS |
| Lipoid adrenal hyperplasia | STAR | STAR |
| Pancreatic lipase deficiency | PNLIP | PNLIP |
| {Lumbar disc herniation, susceptibility to} | THBS2 | THBS2 |
| Frank-ter Haar syndrome | SH3PXD2B | SH3PXD2B |
| Aicardi-Goutieres syndrome 5 | SAMHD1 | SAMHD1 |
| Chilblain lupus 2 | SAMHD1 | SAMHD1 |
| Diabetes mellitus, insulin-dependent, 20 | HNF1A | HNF1A |
| Hepatic adenoma, somatic | HNF1A | HNF1A |
| MODY, type III | HNF1A | HNF1A |
| Renal cell carcinoma | HNF1A | HNF1A |
| {Diabetes mellitus, insulin-dependent} | HNF1A | HNF1A |
| {Diabetes mellitus, noninsulin-dependent, 2} | HNF1A | HNF1A |
| Sveinsson choreoretinal atrophy | TEAD1 | TEAD1 |
| Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency | NFKBIA | NFKBIA |
| {Alcohol dependence, susceptibility to} | RCBTB1 | RCBTB1 |
| {Coronary artery disease, autosomal dominant, 1} | MEF2A | MEF2A |
| Phosphoglycerate dehydrogenase deficiency | PHGDH | PHGDH |
| {Pancreatic cancer, susceptibility to, 1} | PALLD | PALLD |
| Mental retardation, X-linked | NLGN4 | NLGN4X |
| {Asperger syndrome susceptibility, X-linked 2} | NLGN4 | NLGN4X |
| {Autism susceptibility, X-linked 2} | NLGN4 | NLGN4X |
| Myeloproliferative disorder with eosinophilia | PDGFRB | PDGFRB |
| Borjeson-Forssman-Lehmann syndrome | PHF6 | PHF6 |
| Biotinidase deficiency | BTD | BTD |
| Diaphanospondylodysostosis | BMPER | BMPER |
| {Pseudofolliculitis barbae, susceptibility to} | KRT75 | KRT75 |
| Hemophagocytic lymphohistiocytosis, familial, 4 | STX11 | STX11 |
| Enhanced S-cone syndrome | NR2E3 | NR2E3 |
| Retinitis pigmentosa 37 | NR2E3 | NR2E3 |
| Fibromatosis, juvenile hyaline | ANTXR2 | ANTXR2 |
| Hyalinosis, infantile systemic | ANTXR2 | ANTXR2 |
| Atopy | SPINK5 | SPIK7 |
| Netherton syndrome | SPINK5 | SPIK7 |
| Amyloidosis, primary localized cutaneous, 1 | OSMR | OSMR |
| Leigh syndrome, French-Canadian type | LRPPRC | LRPPRC |
| Thrombocytopenia 2 | ANKRD26 | ANKRD26 |
| Tumoral calcinosis, hyperphosphatemic, familial | GALNT3 | GALNT3 |
| [High molecular weight kininogen deficiency] | KNG1 | KNG1 |
| [Kininogen deficiency] | KNG1 | KNG1 |
| Deafness, autosomal recessive 6 | TMIE | TMIE |
| Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malforamtions | FADD | FADD |
| Dystonia-11, myoclonic | SGCE | SGCE |
| Carpenter syndrome | RAB23 | RAB23 |
| Metaphyseal anadysplasia 2 | MMP9 | MMP9 |
| Adenomatous polyposis coli | APC | APC |
| Colorectal cancer, somatic | APC | APC |
| Desmoid disease, hereditary | APC | APC |
| Gastric cancer, somatic | APC | APC |
| Hepatoblastoma, somatic | APC | APC |
| Bradyopsia | RGS9 | RGS9 |
| Vesicoureteral reflux 2 | ROBO2 | ROBO2 |
| COACH syndrome | RPGRIP1L | RPGRIP1L |
| Joubert syndrome 7 | RPGRIP1L | RPGRIP1L |
| Meckel syndrome, type 5 | RPGRIP1L | RPGRIP1L |
| Spherocytosis, hereditary, type 5 | EPB42 | EPB42 |
| Lipodystrophy, familial partial, type 4 | PLIN1 | PLIN1 |
| Cardiomyopathy, familial hypertrophic 6 | PRKAG2 | PRKAG2 |
| Glycogen storage disease of heart, lethal congenital | PRKAG2 | PRKAG2 |
| Wolff-Parkinson-White syndrome | PRKAG2 | PRKAG2 |
| Griscelli syndrome, type 3 | MLPH | MLPH |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | PIGA | PIGA |
| Paroxysmal nocturnal hemoglobinuria, somatic | PIGA | PIGA |
| {Pancreatitis, chronic, susceptibility to} | CTRC | CTRC |
| Ewing sarcoma | EWSR1 | EWSR1 |
| Neuroepithelioma | EWSR1 | EWSR1 |
| Spondylocostal dysostosis, autosomal recessive 3 | LFNG | LFNG |
| Charcot-Marie-Tooth disease, type 2D | GARS | GARS |
| Neuropathy, distal hereditary motor, type V | GARS | GARS |
| {Diabetes mellitus, noninsulin-dependent 1} | CAPN10 | CAPN10 |
| MHC class II deficiency, complementation group B | RFXANK | RFXANK |
| Long QT syndrome-11 | AKAP9 | AKAP9 |
| Salla disease | SLC17A5 | SLC17A5 |
| Sialic acid storage disorder, infantile | SLC17A5 | SLC17A5 |
| Congenital disorder of glycosylation, type Ih | ALG8 | ALG8 |
| Isobutyryl-CoA dehydrogenase deficiency | ACAD8 | ACAD8 |
| Spinocerebellar ataxia 7 | ATXN7 | ATXN7 |
| {Alzheimer disease, susceptibility to} | BLMH | BLMH |
| C1q deficiency | C1QB | C1QB |
| Leiomyoma, uterine, somatic | HMGA2 | HMGA2 |
| Lipodystrophy, congenital generalized, type 3 | CAV1 | CAV1 |
| Lacticacidemia due to PDX1 deficiency | PDX1 | PDHX |
| Quebec platelet disorder | PLAU | PLAU |
| {Alzheimer disease, late-onset, susceptibility to} | PLAU | PLAU |
| Bethlem myopathy | COL6A3 | COL6A3 |
| Ullrich congenital muscular dystrophy | COL6A3 | COL6A3 |
| Xeroderma pigmentosum, group F | ERCC4 | ERCC4 |
| XFE progeroid syndrome | ERCC4 | ERCC4 |
| Fumarase deficiency | FH | FH |
| Leiomyomatosis and renal cell cancer | FH | FH |
| Fazio-Londe disease | SLC52A3 | SLC52A3 |
| Costello syndrome | HRAS | HRAS |
| Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | RRM2B | RRM2B |
| Mitochondrial DNA depletion syndrome 8B (MNGIE type) | RRM2B | RRM2B |
| Histiocytosis-lymphadenopathy plus syndrome | SLC29A3 | SLC29A3 |
| Fragile X syndrome | FMR1 | FMR1 |
| Fragile X tremor/ataxia syndrome | FMR1 | FMR1 |
| Premature ovarian failure 1 | FMR1 | FMR1 |
| {Atopy, susceptibility to} | SELP | SELP |
| Follicle-stimulating hormone deficiency, isolated | FSHB | FSHB |
| Fanconi anemia, complementation group D1 | BRCA2 | BRCA2 |
| Pancreatic cancer | BRCA2 | BRCA2 |
| Prostate cancer | BRCA2 | BRCA2 |
| Wilms tumor | BRCA2 | BRCA2 |
| {Breast cancer, male, susceptibility to} | BRCA2 | BRCA2 |
| {Breast-ovarian cancer, familial, 2} | BRCA2 | BRCA2 |
| {Glioblastoma 3} | BRCA2 | BRCA2 |
| {Medulloblastoma} | BRCA2 | BRCA2 |
| Inflammatory bowel disease 28, early onset, autosomal recessive | IL10RA | IL10RA |
| Ceroid lipofuscinosis, neuronal, 6 | CLN6 | CLN6 |
| Ceroid lipofuscinosis, neuronal, Kufs type, adult onset | CLN6 | CLN6 |
| Spinocerebellar ataxia 15 | ITPR1 | ITPR1 |
| Epidermolysis bullosa, junctional, non-Herlitz type | COL17A1 | COL17A1 |
| Atrial fibrillation, familial, 9 | KCNJ2 | KCNJ2 |
| Long QT syndrome-7 | KCNJ2 | KCNJ2 |
| Short QT syndrome-3 | KCNJ2 | KCNJ2 |
| Leukoencephalopathy with dystonia and motor neuropathy | SCP2 | SCP2 |
| Megaloblastic anemia-1, Finnish type | CUBN | CUBN |
| {Lung cancer susceptibility 2} | CHRNA3 | CHRNA3 |
| Platelet glycoprotein IV deficiency | CD36 | CD36 |
| {Coronary heart disease, susceptibility to, 7} | CD36 | CD36 |
| {Malaria, cerebral, reduced risk of} | CD36 | CD36 |
