ID
|
Abbreviation
|
Name
|
OMIM ID
|
Inheritance
|
Individuals
|
Phenotypes
|
Associated with genes
|
Associated tissues
|
Disease features
|
00206 |
278720 |
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
278720 |
AR |
- |
- |
- |
- |
- |
00213 |
612954 |
MYOPATHY, MYOFIBRILLAR, 6 |
612954 |
AD |
- |
- |
- |
- |
- |
00033 |
a-THAL |
ALPHA-THALASSEMIA |
604131 |
- |
- |
- |
HBA1, HBA2 |
- |
- |
00034 |
ACH |
ACHONDROPLASIA |
100800 |
- |
- |
- |
FGFR3 |
- |
- |
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 |
- |
- |
00176 |
ARVD11 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 |
610476 |
AD;AR |
- |
- |
DSG2 |
- |
- |
00065 |
AT |
ATAXIA-TELANGIECTASIA |
208900 |
AR |
- |
- |
ATM |
- |
- |
00155 |
ATFB3 |
ATRIAL FIBRILLATION, FAMILIAL, 3 |
607554 |
AD |
- |
- |
- |
- |
- |
00032 |
b-THAL |
BETA-THALASSEMIA |
613985 |
- |
- |
- |
HBB |
- |
- |
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 |
- |
- |
CFTR |
- |
- |
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 |
- |
- |
- |
- |
- |
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 |
- |
- |
CYP21A2 |
- |
- |
00078 |
CBAVD |
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF |
277180 |
AR |
- |
- |
CFTR |
- |
- |
00004 |
CF |
CYSTIC FIBROSIS |
219700 |
AR |
- |
- |
CFTR |
- |
- |
00164 |
CFC1 |
CARDIOFACIOCUTANEOUS SYNDROME 1 |
115150 |
AD |
- |
- |
BRAF |
- |
- |
00137 |
CINCA |
CINCA SYNDROM |
607115 |
AD |
- |
- |
NLRP3 |
- |
- |
00219 |
CMD1AA |
CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION |
612158 |
AD |
- |
- |
ACTN2 |
- |
- |
00201 |
CMD1DD |
CARDIOMYOPATHY, DILATED, 1DD |
613172 |
- |
- |
- |
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 |
- |
- |
ABCC9 |
- |
- |
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 |
- |
- |
- |
GJB2 |
- |
- |
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 |
- |
- |
XRCC2 |
- |
- |
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 |
- |
- |
- |
- |
- |
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 |
- |
- |
- |
GLA |
- |
- |
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 |
- |
- |
KIT, 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 |
- |
- |
- |
FGFR3 |
- |
- |
00063 |
HHF1 |
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 |
256450 |
AD;AR |
- |
- |
ABCC8 |
- |
- |
00091 |
HHF3 |
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3 |
602485 |
AD |
- |
- |
GCK |
- |
- |
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 |
- |
- |
00022 |
ISS |
SHORT STATURE, IDIOPATHIC, X-LINKED |
300582 |
- |
- |
- |
SHOX |
- |
- |
00156 |
JLNS1 |
JERVELL AND LANGE-NIELSEN SYNDROME |
- |
AR |
- |
- |
KCNQ1 |
- |
- |
00104 |
JMML |
JUVENILE MYELOMONOCYTIC LEUKEMIA |
607785 |
AD |
- |
- |
NF1 |
- |
- |