|  
 
               ID      |  
 
               Abbreviation      |  
 
               Name      |  
 
               OMIM ID      |  
 
               Inheritance      |  
 
               Individuals      |  
 
               Phenotypes      |  Associated with genes
 
 |  Associated tissues
 
 |  Disease features
 
 | 
        
          | 00033 | a-THAL | ALPHA-THALASSEMIA | 604131 | - | - | - | HBA2 | - | - | 
        
          | 00233 | AAT6 | AORTIC ANEURYSM, FAMILIAL THORACIC 6 | 611788 | AD | - | - | ACTA2 | - | - | 
        
          | 00034 | ACH | ACHONDROPLASIA | 100800 | AD | - | - | - | - | - | 
        
          | 00084 | ACMICD | ACROMICRIC DYSPLASIA | 102370 | AD | - | - | FBN1 | - | - | 
        
          | 00124 | ADCC | ADRENOCORTICAL CARCINOMA, HEREDITARY | 202300 | AD | - | - | TP53 | - | - | 
        
          | 00098 | AFND | NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE | 608068 | - | - | - | MEFV | - | - | 
        
          | 00190 | AIFEC | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS | 616050 | AD | - | - | NLRC4 | - | - | 
        
          | 00227 | ARVD10 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 | 610193 | AD | - | - | DSG2 | - | - | 
        
          | 00176 | ARVD11 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 | 610476 | AD;AR | - | - | DSC2 | - | - | 
        
          | 00065 | AT | ATAXIA-TELANGIECTASIA | 208900 | AR | - | - | ATM | - | - | 
        
          | 00155 | ATFB3 | ATRIAL FIBRILLATION, FAMILIAL, 3 | 607554 | AD | - | - | - | - | - | 
        
          | 00032 | b-THAL | BETA-THALASSEMIA | 613985 | - | - | - | - | - | - | 
        
          | 00125 | BCC7 | BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 | 614740 | AD | - | - | TP53 | - | - | 
        
          | 00077 | BCDS1 | BLEPHAROCHEILODONTIC SYNDROME 1 | 119580 | AD | - | - | CDH1 | - | - | 
        
          | 00114 | BCNS1 | BASAL CELL NEVUS SYNDROME 1 | 109400 | AD | - | - | PTCH1 | - | - | 
        
          | 00079 | BESC1 | BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 | 211400 | AD | - | - | - | - | - | 
        
          | 00055 | BLAUS | BLAU SYNDROME | 186580 | AD | - | - | NOD2 | - | - | 
        
          | 00208 | BLM | BLOOM SYNDROME | 210900 | AR | - | - | BLM | - | - | 
        
          | 00123 | BMFS5 | BONE MARROW FAILURE SYNDROME 5 | 618165 | AD | - | - | TP53 | - | - | 
        
          | 00028 | BREAST CANCER | BREAST CANCER | 114480 | AD;SMu | - | - | ATM, BARD1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, TP53 | - | - | 
        
          | 00215 | BRGDA1 | BRUGADA SYNDROME 1 | 601144 | AD | - | - | - | - | - | 
        
          | 00232 | BRGDA3 | BRUGADA SYNDROME 3 | 611875 | - | - | - | - | - | - | 
        
          | 00002 | BROVCA1 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | 604370 | AD | - | - | BRCA1 | - | - | 
        
          | 00011 | BROVCA2 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | 612555 | AD | - | - | BRCA2 | - | - | 
        
          | 00012 | BROVCA3 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | 613399 | - | - | - | RAD51C | - | - | 
        
          | 00013 | BROVCA4 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | 614291 | - | - | - | RAD51D | - | - | 
        
          | 00030 | CAH1 | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | 201910 | AR | - | - | - | - | - | 
        
          | 00078 | CBAVD | VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF | 277180 | AR | - | - | - | - | - | 
        
          | 00004 | CF | CYSTIC FIBROSIS | 219700 | AR | - | - | - | - | - | 
        
          | 00164 | CFC1 | CARDIOFACIOCUTANEOUS SYNDROME 1 | 115150 | AD | - | - | BRAF | - | - | 
        
          | 00137 | CINCA | CINCA SYNDROM | 607115 | AD | - | - | NLRP3 | - | - | 
        
          | 00226 | CMD1A | CARDIOMYOPATHY, DILATED, 1A | 115200 | AD | - | - | LMNA | - | - | 
        
          | 00219 | CMD1AA | CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | 612158 | AD | - | - | ACTN2 | - | - | 
        
          | 00201 | CMD1DD | CARDIOMYOPATHY, DILATED, 1DD | 613172 | AD | - | - | RBM20 | - | - | 
        
          | 00129 | CMD1G | CARDIOMYOPATHY, DILATED, 1G | 604145 | AD | - | - | TTN | - | - | 
        
          | 00212 | CMD1HH | CARDIOMYOPATHY, DILATED, 1HH | 613881 | AD | - | - | BAG3 | - | - | 
        
          | 00174 | CMD1I | CARDIOMYOPATHY, DILATED, 1I | 604765 | AD | - | - | DES | - | - | 
        
          | 00177 | CMD1J | CARDIOMYOPATHY, DILATED, 1J | 605362 | AD | - | - | EYA4 | - | - | 
        
          | 00198 | CMD1O | CARDIOMYOPATHY, DILATED, 1O | 608569 | AD | - | - | - | - | - | 
        
          | 00218 | CMH27 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 27 | 618052 | AR | - | - | ALPK3 | - | - | 
        
          | 00154 | CMH4 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 | 115197 | AD;AR | - | - | MYBPC3 | - | - | 
        
          | 00130 | CMH9 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 | 613765 | AD | - | - | TTN | - | - | 
        
          | 00169 | CMM2 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 | 155601 | AD | - | - | CDKN2A | - | - | 
        
          | 00167 | CMM3 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 | 609048 | AD | - | - | CDK4 | - | - | 
        
          | 00185 | CMT2A1 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 | 118210 | AD | - | - | KIF1B | - | - | 
        
          | 00131 | CMYP5 | CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY | 611705 | AR | - | - | TTN | - | - | 
        
          | 00126 | CPP | PAPILLOMA OF CHOROID PLEXUS | 260500 | AD | - | - | TP53 | - | - | 
        
          | 00220 | CPVT2 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 | 611938 | AR | - | - | CASQ2 | - | - | 
        
          | 00081 | CRC | COLORECTAL CANCER | 114500 | AD | - | - | CHEK2, TP53 | - | - | 
        
          | 00160 | CRCS10 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 | 612591 | AD | - | - | POLD1 | - | - | 
        
          | 00207 | CRCS12 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | 615083 | AD | - | - | POLE | - | - | 
        
          | 00194 | CWS1 | COWDEN SYNDROME 1 | 158350 | AD | - | - | PTEN | - | - | 
        
          | 00217 | DEE110 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 | 620149 | AR | - | - | CACNA2D1 | - | - | 
        
          | 00162 | DESMD | DESMOID DISEASE, HEREDITARY | 135290 | AD | - | - | APC | - | - | 
        
          | 00138 | DFNA34 | DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION | 617772 | AD | - | - | NLRP3 | - | - | 
        
          | 00031 | DFNB1A | DEAFNESS, AUTOSOMAL RECESSIVE 1A | 220290 | - | - | - | - | - | - | 
        
          | 00044 | DGLBC | DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME | 137215 | AD | - | - | CDH1 | - | - | 
        
          | 00085 | ECTOL1 | ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT | 129600 | AD | - | - | FBN1 | - | - | 
        
          | 00214 | EDSARTH1 | EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 | 130060 | AD | - | - | COL1A1 | - | - | 
        
          | 00059 | EDSCL2 | EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 | 130010 | AD | - | - | AEBP1, COL5A2 | - | - | 
        
          | 00202 | EDSCLL2 | EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 | 618000 | AR | - | - | - | - | - | 
        
          | 00173 | EDSVASC | EHLERS-DANLOS SYNDROME, VASCULAR TYPE | 130050 | AD | - | - | COL3A1 | - | - | 
        
          | 00103 | ENDOMETRIAL CANCER | ENDOMETRIAL CANCER | 608089 | AD | - | - | MSH6 | - | - | 
        
          | 00052 | FANCA | FANCONI ANEMIA, COMPLEMENTATION GROUP A | 227650 | AR | - | - | FANCA | - | - | 
        
          | 00070 | FANCD1 | Fanconi anemia, complementation group D1 | 605724 | AR | - | - | BRCA2 | - | - | 
        
          | 00076 | FANCJ | FANCONI ANEMIA, COMPLEMENTATION GROUP J | 609054 | - | - | - | BRIP1 | - | - | 
        
          | 00027 | FANCN | FANCONI ANEMIA, COMPLEMENTATION GROUP N | 610832 | - | - | - | PALB2 | - | - | 
        
          | 00118 | FANCO | FANCONI ANEMIA, COMPLEMENTATION GROUP O | 613390 | AR | - | - | RAD51C | - | - | 
        
          | 00069 | FANCS | FANCONI ANEMIA, COMPLEMENTATION GROUP S | 617883 | AR | - | - | BRCA1 | - | - | 
        
          | 00205 | FANCU | FANCONI ANEMIA, COMPLEMENTATION GROUP U | 617247 | AR | - | - | - | - | - | 
        
          | 00161 | FAP1 | FAMILIAL ADENOMATOUS POLYPOSIS 1 | 175100 | AD | - | - | APC | - | - | 
        
          | 00049 | FAP2 | FAMILIAL ADENOMATOUS POLYPOSIS 2 | 608456 | AR | - | - | MUTYH | - | - | 
        
          | 00191 | FAP3 | FAMILIAL ADENOMATOUS POLYPOSIS 3 | 616415 | AD | - | - | NTHL1 | - | - | 
        
          | 00139 | FCAS1 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | 120100 | AD | - | - | NLRP3 | - | - | 
        
          | 00142 | FCAS2 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 | 611762 | AD | - | - | NLRP12 | - | - | 
        
          | 00189 | FCAS4 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4 | 616115 | AD | - | - | NLRC4 | - | - | 
        
          | 00026 | FD | FABRY DISEASE | 301500 | - | - | - | - | - | - | 
        
          | 00147 | FHBL1 | HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 | 615558 | AR | - | - | APOB | - | - | 
        
          | 00148 | FHCL1 | HYPERCHOLESTEROLEMIA, FAMILIAL, 1 | 143890 | AD | - | - | LDLR | - | - | 
        
          | 00146 | FHCL2 | HYPERCHOLESTEROLEMIA, FAMILIAL, 2 | 144010 | AD | - | - | APOB | - | - | 
        
          | 00025 | FMF | FAMILIAL MEDITERRANEAN FEVER | 249100 | AR | - | - | MEFV | - | - | 
        
          | 00097 | FMFAD | FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT | 134610 | AD | - | - | MEFV | - | - | 
        
          | 00144 | FPF | PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT | 142680 | AD | - | - | TNFRSF1A | - | - | 
        
          | 00096 | FRTS4 | FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG | 616026 | AD | - | - | HNF4A | - | - | 
        
          | 00105 | FSNF | NEUROFIBROMATOSIS, FAMILIAL SPINAL | 162210 | AD | - | - | NF1 | - | - | 
        
          | 00163 | GAPPS | GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH | 619182 | AD | - | - | APC | - | - | 
        
          | 00038 | GIST | GASTROINTESTINAL STROMAL TUMOR | 606764 | AD | - | - | SDHB | - | - | 
        
          | 00192 | GISTPS | GIST-PLUS SYNDROME | 175510 | - | - | - | PDGFRA | - | - | 
        
          | 00127 | GLM1 | GLIOMA SUSCEPTIBILITY 1 | 137800 | AD | - | - | TP53 | - | - | 
        
          | 00072 | GLM3 | GLIOMA SUSCEPTIBILITY 3 | 613029 | AR | - | - | BRCA2 | - | - | 
        
          | 00086 | GPHYSD2 | GELEOPHYSIC DYSPLASIA 2 | 614185 | AD | - | - | FBN1 | - | - | 
        
          | 00035 | HCH | HYPOCHONDROPLASIA | 146000 | - | - | - | - | - | - | 
        
          | 00063 | HHF1 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 | 256450 | AD;AR | - | - | ABCC8 | - | - | 
        
          | 00091 | HHF3 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3 | 602485 | AD | - | - | GCK | - | - | 
        
          | 00229 | HIDS | HYPER-IgD SYNDROME | 260920 | AR | - | - | MVK | - | - | 
        
          | 00200 | HLRCC | HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER | 150800 | AD | - | - | FH | - | - | 
        
          | 00209 | HMPS2 | POLYPOSIS SYNDROME, HEREDITARY MIXED | 610069 | - | - | - | BMPR1A | - | - | 
        
          | 00115 | HPE7 | HOLOPROSENCEPHALY 7 | 610828 | AD | - | - | PTCH1 | - | - | 
        
          | 00043 | HPRCC | Renal cell carcinoma, papillary, 1, familial and somatic | 605074 | - | - | - | MET | - | - | 
        
          | 00108 | IBD1 | NFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 | 266600 | Mu | - | - | NOD2 | - | - |