mgi_id symbol OMIM ID OMIM Term Human Gene model NEW OMIM ID MGI:87977 Ak1 612631 "Adenylate Kinase Deficiency, Hemolytic Anemia Due to" AK1 Human gene only CCO:OMIM612631 MGI:108405 Apbb2 104300 Alzheimer Disease; AD APBB2 Human gene only CCO:OMIM104300 MGI:88039 Apc 175100 Adenomatous Polyposis of the Colon; APC APC Both mouse and human gene CCO:OMIM175100 MGI:88039 Apc 210900 Bloom Syndrome; BLM APC Mouse gene only CCO:OMIM210900 MGI:88039 Apc 114480 Breast Cancer APC Mouse gene only CCO:OMIM114480 MGI:88039 Apc 114500 Colorectal Cancer; CRC APC Human gene only CCO:OMIM114500 MGI:88039 Apc 135290 "Desmoid Disease, Hereditary" APC Human gene only CCO:OMIM135290 MGI:88039 Apc 137215 Gastric Cancer APC Human gene only CCO:OMIM137215 MGI:88039 Apc 114550 Hepatocellular Carcinoma APC Mouse gene only CCO:OMIM114550 MGI:88039 Apc 155255 Medulloblastoma; MDB APC Human gene only CCO:OMIM155255 MGI:88039 Apc 276300 Mismatch Repair Cancer Syndrome APC Human gene only CCO:OMIM276300 MGI:88039 Apc 268400 Rothmund-Thomson Syndrome; RTS APC Mouse gene only CCO:OMIM268400 MGI:88059 App 104300 Alzheimer Disease; AD APP Mouse gene only CCO:OMIM104300 MGI:88059 App 104760 Amyloid Beta A4 Precursor Protein; APP APP Human gene only CCO:OMIM104760 MGI:88059 App 605714 "Amyloidosis, Cerebroarterial, Hereditary, Iowa Type Occipital Calcifications, Familial, with Hemorrhagic Strokes, Leukoencephalopathy," APP Human gene only CCO:OMIM605714 MGI:1929699 Arl3 263200 "Polycystic Kidney Disease, Autosomal Recessive; ARPKD" ARL3 Mouse gene only CCO:OMIM263200 MGI:1334448 Aspm 608716 "Microcephaly, Primary Autosomal Recessive, 5; MCPH5" ASPM Human gene only CCO:OMIM608716 MGI:107202 Atm 208900 Ataxia-Telangiectasia; AT ATM Both mouse and human gene CCO:OMIM208900 MGI:107202 Atm 114480 Breast Cancer ATM Human gene only CCO:OMIM114480 MGI:108028 Atr 210600 Seckel Syndrome 1 ATR Human gene only CCO:OMIM210600 MGI:894678 Aurka 114500 Colorectal Cancer; CRC AURKA Human gene only CCO:OMIM114500 MGI:1321119 Aurkc 243060 "Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa" AURKC Human gene only CCO:OMIM243060 MGI:88138 Bcl2 151430 B-Cell Cll/Lymphoma 2; BCL2 BCL2 Human gene only CCO:OMIM151430 MGI:88141 Bcr 608232 "Leukemia, Chronic Myeloid; CML" BCR Human gene only CCO:OMIM608232 MGI:104537 Brca1 114480 Breast Cancer BRCA1 Mouse gene only CCO:OMIM114480 MGI:104537 Brca1 604370 "Breast-Ovarian Cancer, Familial, Susceptibility to, 1; BROVCA1" BRCA1 Human gene only CCO:OMIM604370 MGI:109337 Brca2 600185 Brca2 Gene; BRCA2 BRCA2 Human gene only CCO:OMIM600185 MGI:109337 Brca2 114480 Breast Cancer BRCA2 Both mouse and human gene CCO:OMIM114480 MGI:109337 Brca2 612555 "Breast-Ovarian Cancer, Familial, Susceptibility to, 2; BROVCA2" BRCA2 Human gene only CCO:OMIM612555 MGI:109337 Brca2 605724 "Fanconi Anemia, Complementation Group D1; FANCD1" BRCA2 Both mouse and human gene CCO:OMIM605724 MGI:109337 Brca2 137800 "Glioma of Brain, Familial" BRCA2 Human gene only CCO:OMIM137800 MGI:109337 Brca2 155255 Medulloblastoma; MDB BRCA2 Human gene only CCO:OMIM155255 MGI:109337 Brca2 260350 Pancreatic Carcinoma BRCA2 Human gene only CCO:OMIM260350 MGI:109337 Brca2 176807 Prostate Cancer BRCA2 Human gene only CCO:OMIM176807 MGI:109337 Brca2 194070 Wilms Tumor 1; WT1 BRCA2 Human gene only CCO:OMIM194070 MGI:1333889 Bub1b 114500 Colorectal Cancer; CRC BUB1B Human gene only CCO:OMIM114500 MGI:1333889 Bub1b 257300 Mosaic Variegated Aneuploidy Syndrome; MVA BUB1B Human gene only CCO:OMIM257300 MGI:1333889 Bub1b 176430 Premature Chromatid Separation Trait; PCS BUB1B Human gene only CCO:OMIM176430 MGI:88313 Ccnd1 114500 Colorectal Cancer; CRC CCND1 Human gene only CCO:OMIM114500 MGI:88313 Ccnd1 151400 "Leukemia, Chronic Lymphocytic; CLL" CCND1 Human gene only CCO:OMIM151400 MGI:88313 Ccnd1 254500 "Myeloma, Multiple" CCND1 Human gene only CCO:OMIM254500 MGI:88313 Ccnd1 193300 Von Hippel-Lindau Syndrome; VHL CCND1 Human gene only CCO:OMIM193300 MGI:1330281 Cd2ap 607832 "Focal Segmental Glomerulosclerosis 3, Susceptibility To; FSGS3" CD2AP Both mouse and human gene CCO:OMIM607832 MGI:2384876 Cdc73 145000 Hyperparathyroidism 1; HRPT1 CDC73 Human gene only CCO:OMIM145000 MGI:2384876 Cdc73 145001 Hyperparathyroidism 2; HRPT2 CDC73 Human gene only CCO:OMIM145001 MGI:2384876 Cdc73 608266 Parathyroid Carcinoma CDC73 Human gene only CCO:OMIM608266 MGI:88357 Cdk4 222100 "Diabetes Mellitus, Insulin-Dependent; IDDM" CDK4 Mouse gene only CCO:OMIM222100 MGI:88357 Cdk4 609048 "Melanoma, Cutaneous Malignant, Susceptibility to, 3; CMM3" CDK4 Human gene only CCO:OMIM609048 MGI:1277162 Cdk6 612223 Stature Quantitative Trait Locus 11; STQTL11 CDK6 Human gene only CCO:OMIM612223 MGI:104556 Cdkn1a 114550 Hepatocellular Carcinoma CDKN1A Mouse gene only CCO:OMIM114550 MGI:104556 Cdkn1a 152700 Systemic Lupus Erythematosus; SLE CDKN1A Mouse gene only CCO:OMIM152700 MGI:104565 Cdkn1b 610755 "Multiple Endocrine Neoplasia, Type IV; MEN4" CDKN1B Human gene only CCO:OMIM610755 MGI:104564 Cdkn1c 130650 Beckwith-Wiedemann Syndrome; BWS CDKN1C Both mouse and human gene CCO:OMIM130650 MGI:104564 Cdkn1c 189800 Preeclampsia/Eclampsia 1; PEE1 CDKN1C Mouse gene only CCO:OMIM189800 MGI:104738 Cdkn2a 151623 Li-Fraumeni Syndrome 1; LFS1 CDKN2A Human gene only CCO:OMIM151623 MGI:104738 Cdkn2a 155601 "Melanoma, Cutaneous Malignant, Susceptibility to, 2; CMM2" CDKN2A Human gene only CCO:OMIM155601 MGI:104738 Cdkn2a 155720 "Melanoma, Uveal" CDKN2A Mouse gene only CCO:OMIM155720 MGI:104738 Cdkn2a 155755 Melanoma-Astrocytoma Syndrome CDKN2A Human gene only CCO:OMIM155755 MGI:104738 Cdkn2a 606719 Melanoma-Pancreatic Cancer Syndrome CDKN2A Human gene only CCO:OMIM606719 MGI:104738 Cdkn2a 257910 Oculopalatocerebral Syndrome CDKN2A Mouse gene only CCO:OMIM257910 MGI:104738 Cdkn2a 176807 Prostate Cancer CDKN2A Mouse gene only CCO:OMIM176807 MGI:2684927 Cenpj 608393 "Microcephaly, Primary Autosomal Recessive, 6; MCPH6" CENPJ Human gene only CCO:OMIM608393 MGI:1355321 Chek2 114480 Breast Cancer CHEK2 Human gene only CCO:OMIM114480 MGI:1355321 Chek2 604373 "Checkpoint Kinase 2, S. Pombe, Homolog Of; CHEK2" CHEK2 Human gene only CCO:OMIM604373 MGI:1355321 Chek2 609265 Li-Fraumeni Syndrome 2; LFS2 CHEK2 Human gene only CCO:OMIM609265 MGI:1355321 Chek2 259500 Osteogenic Sarcoma CHEK2 Human gene only CCO:OMIM259500 MGI:1355321 Chek2 176807 Prostate Cancer CHEK2 Human gene only CCO:OMIM176807 MGI:1306784 Cited2 187500 Tetralogy of Fallot CITED2 Mouse gene only CCO:OMIM187500 MGI:88515 Cryaa 605749 "Cataract, Autosomal Recessive, Early-Onset, Pulverulent" CRYAA Mouse gene only CCO:OMIM605749 MGI:88515 Cryaa 123580 "Crystallin, Alpha-A; CRYAA" CRYAA Both mouse and human gene CCO:OMIM123580 MGI:88547 Csnk2a2 102530 Globozoospermia CSNK2A2 Mouse gene only CCO:OMIM102530 MGI:1913765 Cul7 273750 Three M Syndrome CUL7 Human gene only CCO:OMIM273750 MGI:109247 Ddit3 126337 DNA Damage-Inducible Transcript 3; DDIT3 DDIT3 Human gene only CCO:OMIM126337 MGI:94891 Dhh 607080 "Gonadal Dysgenesis, 46,XY, Partial, with Minifascicular Neuropathy" DHH Both mouse and human gene CCO:OMIM607080 MGI:105393 Dmc1 305700 Sertoli Cell-Only Syndrome DMC1 Mouse gene only CCO:OMIM305700 MGI:101941 E2f1 222100 "Diabetes Mellitus, Insulin-Dependent; IDDM" E2F1 Mouse gene only CCO:OMIM222100 MGI:101941 E2f1 270150 Sjogren Syndrome E2F1 Mouse gene only CCO:OMIM270150 MGI:103012 E2f4 600084 "Macrocytosis, Familial" E2F4 Mouse gene only CCO:OMIM600084 MGI:105091 E2f5 236600 Hydrocephalus E2F5 Mouse gene only CCO:OMIM236600 MGI:1919238 Esco2 268300 Roberts Syndrome; RBS ESCO2 Human gene only CCO:OMIM268300 MGI:1919238 Esco2 269000 SC Phocomelia Syndrome ESCO2 Human gene only CCO:OMIM269000 MGI:1352467 Esr1 133430 Estrogen Receptor 1; ESR1 ESR1 Human gene only CCO:OMIM133430 MGI:1352467 Esr1 157300 "Migraine with or without Aura, Susceptibility to, 1" ESR1 Human gene only CCO:OMIM157300 MGI:1352467 Esr1 608446 "Myocardial Infarction, Susceptibility to, 1" ESR1 Human gene only CCO:OMIM608446 MGI:1341823 Fanca 227650 Fanconi Anemia; FA FANCA Both mouse and human gene CCO:OMIM227650 MGI:2448480 Fancd2 227646 "Fanconi Anemia, Complementation Group D2; FANCD2" FANCD2 Human gene only CCO:OMIM227646 MGI:2448480 Fancd2 227650 Fanconi Anemia; FA FANCD2 Mouse gene only CCO:OMIM227650 MGI:99604 Fgf8 188400 DiGeorge Syndrome; DGS FGF8 Mouse gene only CCO:OMIM188400 MGI:99604 Fgf8 612702 Kallmann Syndrome 6; KAL6 FGF8 Human gene only CCO:OMIM612702 MGI:99604 Fgf8 187500 Tetralogy of Fallot FGF8 Mouse gene only CCO:OMIM187500 MGI:1347464 Foxg1 301040 "Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked;" FOXG1 Mouse gene only CCO:OMIM301040 MGI:1347464 Foxg1 188400 DiGeorge Syndrome; DGS FOXG1 Mouse gene only CCO:OMIM188400 MGI:1347464 Foxg1 164874 Forkhead Box G1; FOXG1 FOXG1 Human gene only CCO:OMIM164874 MGI:1347464 Foxg1 157170 Holoprosencephaly 2; HPE2 FOXG1 Mouse gene only CCO:OMIM157170 MGI:107799 Gadd45a 211980 Lung Cancer GADD45A Mouse gene only CCO:OMIM211980 MGI:107799 Gadd45a 152700 Systemic Lupus Erythematosus; SLE GADD45A Mouse gene only CCO:OMIM152700 MGI:1890220 Gpr132 109100 Autoimmune Disease GPR132 Mouse gene only CCO:OMIM109100 MGI:101761 Hmga2 151900 "Lipomatosis, Multiple" HMGA2 Human gene only CCO:OMIM151900 MGI:101761 Hmga2 611547 Stature Quantitative Trait Locus 9; STQTL9 HMGA2 Human gene only CCO:OMIM611547 MGI:96173 Hoxa13 140000 Hand-Foot-Uterus Syndrome HOXA13 Both mouse and human gene CCO:OMIM140000 MGI:96173 Hoxa13 176305 "Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias" HOXA13 Human gene only CCO:OMIM176305 MGI:1349481 Ing1 275355 "Squamous Cell Carcinoma, Head and Neck; HNSCC" ING1 Human gene only CCO:OMIM275355 MGI:96610 Itgb1 142623 "Hirschsprung Disease, Susceptibility to, 1; HSCR1" ITGB1 Mouse gene only CCO:OMIM142623 MGI:1095413 Lfng 609813 "Spondylocostal Dysostosis, Autosomal Recessive 3; SCDO3" LFNG Human gene only CCO:OMIM609813 MGI:1335098 Lig4 606593 LIG4 Syndrome LIG4 Human gene only CCO:OMIM606593 MGI:1335098 Lig4 254500 "Myeloma, Multiple" LIG4 Human gene only CCO:OMIM254500 MGI:2684762 Lzts1 133239 Esophageal Cancer LZTS1 Human gene only CCO:OMIM133239 MGI:1341857 Mad1l1 176807 Prostate Cancer MAD1L1 Human gene only CCO:OMIM176807 MGI:1346878 Map3k8 211980 Lung Cancer MAP3K8 Human gene only CCO:OMIM211980 MGI:1298227 Mcm6 223100 Lactase Persistence MCM6 Human gene only CCO:OMIM223100 MGI:1298227 Mcm6 606255 Stature As A Quantitative Trait MCM6 Human gene only CCO:OMIM606255 MGI:1316736 Men1 145000 Hyperparathyroidism 1; HRPT1 MEN1 Both mouse and human gene CCO:OMIM145000 MGI:1316736 Men1 131100 "Multiple Endocrine Neoplasia, Type I; MEN1" MEN1 Both mouse and human gene CCO:OMIM131100 MGI:1316736 Men1 219090 "Pituitary Adenoma, Acth-Secreting" MEN1 Mouse gene only CCO:OMIM219090 MGI:1316736 Men1 102200 "Pituitary Adenoma, Growth Hormone-Secreting" MEN1 Mouse gene only CCO:OMIM102200 MGI:1341819 Mlf1 601626 "Leukemia, Acute Myeloid; AML" MLF1 Human gene only CCO:OMIM601626 MGI:101938 Mlh1 114030 "Cafe-Au-Lait Spots, Multiple" MLH1 Human gene only CCO:OMIM114030 MGI:101938 Mlh1 609310 "Colorectal Cancer, Hereditary Nonpolyposis, Type 2; HNPCC2" MLH1 Human gene only CCO:OMIM609310 MGI:101938 Mlh1 276300 Mismatch Repair Cancer Syndrome MLH1 Human gene only CCO:OMIM276300 MGI:101938 Mlh1 158320 Muir-Torre Syndrome; MTS MLH1 Human gene only CCO:OMIM158320 MGI:1353455 Mlh3 114500 Colorectal Cancer; CRC MLH3 Human gene only CCO:OMIM114500 MGI:1100512 Mre11a 604391 Ataxia-Telangiectasia-Like Disorder; ATLD MRE11A Human gene only CCO:OMIM604391 MGI:101816 Msh2 114030 "Cafe-Au-Lait Spots, Multiple" MSH2 Human gene only CCO:OMIM114030 MGI:101816 Msh2 137800 "Glioma of Brain, Familial" MSH2 Human gene only CCO:OMIM137800 MGI:101816 Msh2 120435 Lynch Syndrome I MSH2 Human gene only CCO:OMIM120435 MGI:101816 Msh2 276300 Mismatch Repair Cancer Syndrome MSH2 Human gene only CCO:OMIM276300 MGI:101816 Msh2 158320 Muir-Torre Syndrome; MTS MSH2 Human gene only CCO:OMIM158320 MGI:101816 Msh2 162200 "Neurofibromatosis, Type I; NF1" MSH2 Human gene only CCO:OMIM162200 MGI:107717 Myh9 104200 "Alport Syndrome, Autosomal Dominant" MYH9 Mouse gene only CCO:OMIM104200 MGI:107717 Myh9 603622 "Deafness, Autosomal Dominant 17; DFNA17" MYH9 Human gene only CCO:OMIM603622 MGI:107717 Myh9 153650 Epstein Syndrome MYH9 Human gene only CCO:OMIM153650 MGI:107717 Myh9 153640 Fechtner Syndrome; FTNS MYH9 Human gene only CCO:OMIM153640 MGI:107717 Myh9 600208 Macrothrombocytopenia and Progressive Sensorineural Deafness MYH9 Human gene only CCO:OMIM600208 MGI:107717 Myh9 155100 May-Hegglin Anomaly; MHA MYH9 Human gene only CCO:OMIM155100 MGI:107717 Myh9 605249 Sebastian Syndrome; SBS MYH9 Human gene only CCO:OMIM605249 MGI:1351625 Nbn 251260 Nijmegen Breakage Syndrome NBN Both mouse and human gene CCO:OMIM251260 MGI:97303 Nek1 604588 Never in Mitosis Gene A-Related Kinase 1; NEK1 NEK1 Human gene only CCO:OMIM604588 MGI:97303 Nek1 263200 "Polycystic Kidney Disease, Autosomal Recessive; ARPKD" NEK1 Mouse gene only CCO:OMIM263200 MGI:1913976 Nipbl 122470 Cornelia De Lange Syndrome 1; CDLS1 NIPBL Human gene only CCO:OMIM122470 MGI:106184 Npm1 601626 "Leukemia, Acute Myeloid; AML" NPM1 Human gene only CCO:OMIM601626 MGI:97376 Nras 114500 Colorectal Cancer; CRC NRAS Human gene only CCO:OMIM114500 MGI:97376 Nras 164790 Neuroblastoma Ras Viral Oncogene Homolog; NRAS NRAS Human gene only CCO:OMIM164790 MGI:97376 Nras 188470 "Thyroid Carcinoma, Follicular; FTC" NRAS Human gene only CCO:OMIM188470 MGI:1095411 Nup214 601626 "Leukemia, Acute Myeloid; AML" NUP214 Human gene only CCO:OMIM601626 MGI:109520 Pafah1b1 607432 Lissencephaly 1; LIS1 PAFAH1B1 Both mouse and human gene CCO:OMIM607432 MGI:109520 Pafah1b1 247200 Miller-Dieker Lissencephaly Syndrome; MDLS PAFAH1B1 Both mouse and human gene CCO:OMIM247200 MGI:102722 Pcnt 210720 "Microcephalic Osteodysplastic Primordial Dwarfism, Type II" PCNT Human gene only CCO:OMIM210720 MGI:1355330 Phgdh 601815 Phosphoglycerate Dehydrogenase Deficiency PHGDH Human gene only CCO:OMIM601815 MGI:97603 Pkd1 601313 Polycystic Kidney Disease 1; PKD1 PKD1 Both mouse and human gene CCO:OMIM601313 MGI:97603 Pkd1 173900 Polycystic Kidneys PKD1 Both mouse and human gene CCO:OMIM173900 MGI:1099818 Pkd2 173910 Polycystic Kidney Disease 2; PKD2 PKD2 Both mouse and human gene CCO:OMIM173910 MGI:1099818 Pkd2 173900 Polycystic Kidneys PKD2 Mouse gene only CCO:OMIM173900 MGI:97631 Pmp22 118300 Charcot-Marie-Tooth Disease and Deafness PMP22 Human gene only CCO:OMIM118300 MGI:97631 Pmp22 118220 "Charcot-Marie-Tooth Disease, Demyelinating, Type 1A; CMT1A" PMP22 Both mouse and human gene CCO:OMIM118220 MGI:97631 Pmp22 145900 Hypertrophic Neuropathy of Dejerine-Sottas PMP22 Human gene only CCO:OMIM145900 MGI:97631 Pmp22 162500 "Neuropathy, Hereditary, with Liability to Pressure Palsies; HNPP" PMP22 Both mouse and human gene CCO:OMIM162500 MGI:97631 Pmp22 180800 Roussy-Levy Hereditary Areflexic Dystasia PMP22 Human gene only CCO:OMIM180800 MGI:104288 Pms2 276300 Mismatch Repair Cancer Syndrome PMS2 Human gene only CCO:OMIM276300 MGI:104288 Pms2 600259 "Postmeiotic Segregation Increased, S. Cerevisiae, 2; PMS2" PMS2 Human gene only CCO:OMIM600259 MGI:1858214 Ppm1d 114480 Breast Cancer PPM1D Human gene only CCO:OMIM114480 MGI:106065 Ppm1g 181500 Schizophrenia; SCZD PPM1G Mouse gene only CCO:OMIM181500 MGI:107164 Ppp3ca 104300 Alzheimer Disease; AD PPP3CA Mouse gene only CCO:OMIM104300 MGI:97772 Prox1 265300 "Lymphangiectasia, Pulmonary, Congenital; CPL" PROX1 Mouse gene only CCO:OMIM265300 MGI:97772 Prox1 601665 Obesity PROX1 Mouse gene only CCO:OMIM601665 MGI:99511 Ptpn11 607785 Juvenile Myelomonocytic Leukemia; JMML PTPN11 Human gene only CCO:OMIM607785 MGI:99511 Ptpn11 151100 Leopard Syndrome 1 PTPN11 Human gene only CCO:OMIM151100 MGI:99511 Ptpn11 163950 Noonan Syndrome 1; NS1 PTPN11 Both mouse and human gene CCO:OMIM163950 MGI:99511 Ptpn11 163955 Noonan-Like/Multiple Giant Cell Lesion Syndrome PTPN11 Human gene only CCO:OMIM163955 MGI:97810 Ptprc 609532 "Hepatitis C Virus, Susceptibility to" PTPRC Human gene only CCO:OMIM609532 MGI:97810 Ptprc 126200 "Multiple Sclerosis, Susceptibility To; MS" PTPRC Human gene only CCO:OMIM126200 MGI:97810 Ptprc 608971 "Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive" PTPRC Human gene only CCO:OMIM608971 MGI:97810 Ptprc 152700 Systemic Lupus Erythematosus; SLE PTPRC Mouse gene only CCO:OMIM152700 MGI:97890 Rad51 114480 Breast Cancer RAD51 Human gene only CCO:OMIM114480 MGI:97874 Rb1 109800 Bladder Cancer RB1 Human gene only CCO:OMIM109800 MGI:97874 Rb1 155255 Medulloblastoma; MDB RB1 Mouse gene only CCO:OMIM155255 MGI:97874 Rb1 259500 Osteogenic Sarcoma RB1 Human gene only CCO:OMIM259500 MGI:97874 Rb1 180200 Retinoblastoma; RB1 RB1 Both mouse and human gene CCO:OMIM180200 MGI:1341850 Rb1cc1 114480 Breast Cancer RB1CC1 Human gene only CCO:OMIM114480 MGI:103300 Rbl1 180200 Retinoblastoma; RB1 RBL1 Mouse gene only CCO:OMIM180200 MGI:105085 Rbl2 180200 Retinoblastoma; RB1 RBL2 Mouse gene only CCO:OMIM180200 MGI:1931028 Recql4 218600 Baller-Gerold Syndrome; BGS RECQL4 Human gene only CCO:OMIM218600 MGI:1931028 Recql4 266280 Rapadilino Syndrome RECQL4 Human gene only CCO:OMIM266280 MGI:1931028 Recql4 268400 Rothmund-Thomson Syndrome; RTS RECQL4 Both mouse and human gene CCO:OMIM268400 MGI:102672 Runx3 600807 "Asthma, Susceptibility to" RUNX3 Mouse gene only CCO:OMIM600807 MGI:1858222 Sept9 162100 "Amyotrophy, Hereditary Neuralgic; HNA" SEPT9 Human gene only CCO:OMIM162100 MGI:107576 Sipa1 608232 "Leukemia, Chronic Myeloid; CML" SIPA1 Mouse gene only CCO:OMIM608232 MGI:1328366 Smarcb1 609322 Rhabdoid Tumor; RDT SMARCB1 Mouse gene only CCO:OMIM609322 MGI:1344345 Smc1a 300590 Cornelia De Lange Syndrome 2; CDLS2 SMC1A Human gene only CCO:OMIM300590 MGI:1339795 Smc3 610759 Cornelia De Lange Syndrome 3; CDLS3 SMC3 Human gene only CCO:OMIM610759 MGI:1927578 Smpd3 262600 Pituitary Dwarfism III SMPD3 Mouse gene only CCO:OMIM262600 MGI:1858896 Spast 182601 "Spastic Paraplegia 4, Autosomal Dominant; SPG4" SPAST Both mouse and human gene CCO:OMIM182601 MGI:103035 Stat5b 245590 Growth Hormone Insensitivity with Immunodeficiency STAT5B Human gene only CCO:OMIM245590 MGI:1341870 Stk11 175200 Peutz-Jeghers Syndrome; PJS STK11 Both mouse and human gene CCO:OMIM175200 MGI:1341870 Stk11 273300 Testicular Tumors STK11 Human gene only CCO:OMIM273300 MGI:1919399 Strada 611087 "Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy; PMSE" STRADA Human gene only CCO:OMIM611087 MGI:109542 Sycp3 270960 Azoospermia Due to Perturbations of Meiosis SYCP3 Both mouse and human gene CCO:OMIM270960 MGI:109542 Sycp3 604759 Synaptonemal Complex Protein 3; SYCP3 SYCP3 Human gene only CCO:OMIM604759 MGI:1336878 Taf1 314250 "Dystonia 3, Torsion, X-Linked; DYT3" TAF1 Human gene only CCO:OMIM314250 MGI:98726 Tgfb2 604229 Peters Anomaly TGFB2 Mouse gene only CCO:OMIM604229 MGI:98834 Trp53 202300 "Adrenocortical Carcinoma, Hereditary; ADCC" TP53 Human gene only CCO:OMIM202300 MGI:98834 Trp53 114480 Breast Cancer TP53 Both mouse and human gene CCO:OMIM114480 MGI:98834 Trp53 114500 Colorectal Cancer; CRC TP53 Human gene only CCO:OMIM114500 MGI:98834 Trp53 608089 Endometrial Cancer TP53 Mouse gene only CCO:OMIM608089 MGI:98834 Trp53 114550 Hepatocellular Carcinoma TP53 Human gene only CCO:OMIM114550 MGI:98834 Trp53 151623 Li-Fraumeni Syndrome 1; LFS1 TP53 Both mouse and human gene CCO:OMIM151623 MGI:98834 Trp53 211980 Lung Cancer TP53 Mouse gene only CCO:OMIM211980 MGI:98834 Trp53 155255 Medulloblastoma; MDB TP53 Mouse gene only CCO:OMIM155255 MGI:98834 Trp53 161550 Nasopharyngeal Carcinoma TP53 Human gene only CCO:OMIM161550 MGI:98834 Trp53 162200 "Neurofibromatosis, Type I; NF1" TP53 Mouse gene only CCO:OMIM162200 MGI:98834 Trp53 259500 Osteogenic Sarcoma TP53 Human gene only CCO:OMIM259500 MGI:98834 Trp53 260350 Pancreatic Carcinoma TP53 Human gene only CCO:OMIM260350 MGI:98834 Trp53 260500 Papilloma of Choroid Plexus TP53 Human gene only CCO:OMIM260500 MGI:98834 Trp53 175200 Peutz-Jeghers Syndrome; PJS TP53 Mouse gene only CCO:OMIM175200 MGI:1330810 Trp63 103285 ADULT Syndrome TP63 Human gene only CCO:OMIM103285 MGI:1330810 Trp63 106260 Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate TP63 Human gene only CCO:OMIM106260 MGI:1330810 Trp63 604292 "Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3; EEC3" TP63 Both mouse and human gene CCO:OMIM604292 MGI:1330810 Trp63 603543 Limb-Mammary Syndrome; LMS TP63 Human gene only CCO:OMIM603543 MGI:1330810 Trp63 129400 Rapp-Hodgkin Syndrome; RHS TP63 Human gene only CCO:OMIM129400 MGI:1330810 Trp63 605289 Split-Hand/Foot Malformation 4; SHFM4 TP63 Human gene only CCO:OMIM605289 MGI:1889549 Txnip 114550 Hepatocellular Carcinoma TXNIP Mouse gene only CCO:OMIM114550 MGI:103557 Xpc 211980 Lung Cancer XPC Mouse gene only CCO:OMIM211980 MGI:103557 Xpc 278720 "Xeroderma Pigmentosum, Complementation Group C; XPC" XPC Both mouse and human gene CCO:OMIM278720