Please note that all files represent diseases/phenotypes even if the title does not reflect this (i.e. MIM 604395 MutL, E. COLI, HOMOLOG). Please inspect the MIM file and/or clinical synopsis for the underlying phenotype. Example in the case of MIM 604395 MutL, E. COLI, HOMOLOG the underlying phenotype is Colorectal cancer which is clearly stated in the subtitle and the text of the file.
| MIM # | Best Score | Title |
|---|---|---|
| 604286 | 1.000 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E |
| 253700 | 1.000 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C |
| 180200 | 1.000 | RETINOBLASTOMA |
| 227650 | 1.000 | FANCONI ANEMIA; FA FANCONI |
| 214100 | 1.000 | ZELLWEGER SYNDROME; ZS ;;CEREBROHEPATORENAL |
| 306700 | 1.000 | HEMOPHILIA A ;;HEMOPHILIA, CLASSIC; |
| 600119 | 1.000 | SARCOGLYCAN, ALPHA; SGCA ;;ADHALIN; |
| 300376 | 1.000 | MUSCULAR DYSTROPHY, BECKER TYPE; |
| 311250 | 1.000 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA |
| 151623 | 1.000 | LI-FRAUMENI SYNDROME 1; LFS1 |
| 312170 | 1.000 | PYRUVATE DECARBOXYLASE DEFICIENCY ;;ATAXIA, |
| 202200 | 1.000 | GLUCOCORTICOID DEFICIENCY 1; GCCD1 |
| 145900 | 1.000 | HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS |
| 246450 | 1.000 | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY ;;HMG-CoA |
| 601665 | 1.000 | OBESITY LEANNESS, INCLUDED |
| 278740 | 1.000 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP |
| 608799 | 1.000 | CONGENITAL DISORDER OF GLYCOSYLATION, |
| 231200 | 1.000 | GIANT PLATELET SYNDROME ;;BERNARD-SOULIER |
| 302045 | 1.000 | CARDIOMYOPATHY, DILATED, X-LINKED; XLCM |
| 601224 | 1.000 | POTOCKI-SHAFFER SYNDROME ;;PSS;; CHROMOSOME |
| 232700 | 1.000 | GLYCOGEN STORAGE DISEASE VI |
| 238970 | 1.000 | HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME ;;HHH SYNDROME; |
| 172490 | 1.000 | PHOSPHORYLASE KINASE, BETA SUBUNIT |
| 300400 | 1.000 | SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; |
| 278800 | 1.000 | DE SANCTIS-CACCHIONE SYNDROME |
| 118300 | 1.000 | CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS |
| 193300 | 1.000 | VON HIPPEL-LINDAU SYNDROME |
| 306400 | 1.000 | GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; |
| 133510 | 1.000 | EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN |
| 603360 | 1.000 | PEROXISOME BIOGENESIS FACTOR 16; |
| 608089 | 1.000 | ENDOMETRIAL CANCER |
| 133701 | 1.000 | EXOSTOSES, MULTIPLE, TYPE II |
| 120435 | 1.000 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, |
| 601366 | 1.000 | MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, |
| 233710 | 1.000 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL |
| 609227 | 1.000 | GRISCELLI SYNDROME, TYPE 3; |
| 278720 | 1.000 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP |
| 203750 | 1.000 | ALPHA-METHYLACETOACETIC ACIDURIA ;;2-@METHYL-3-HYDROXYBUTYRIC ACIDEMIA;; |
| 158320 | 1.000 | MUIR-TORRE SYNDROME; MTS ;;CUTANEOUS |
| 175100 | 1.000 | ADENOMATOUS POLYPOSIS OF THE |
| 260500 | 1.000 | PAPILLOMA OF CHOROID PLEXUS |
| 215300 | 1.000 | CHONDROSARCOMA |
| 202370 | 1.000 | ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM |
| 201450 | 1.000 | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY |
| 176930 | 1.000 | COAGULATION FACTOR II, DYSPROTHROMBINEMIA, |
| 133700 | 1.000 | EXOSTOSES, MULTIPLE, TYPE I |
| 300514 | 1.000 | FANCONI ANEMIA, COMPLEMENTATION GROUP |
| 601675 | 1.000 | TRICHOTHIODYSTROPHY, PHOTOSENSITIVE; TTDP ICHTHYOSIFORM |
| 216400 | 1.000 | COCKAYNE SYNDROME, TYPE A; |
| 259420 | 1.000 | OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, |
| 604395 | 1.000 | MutL, E. COLI, HOMOLOG |
| 602092 | 1.000 | DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE |
| 603896 | 1.000 | LEUKOENCEPHALOPATHY WITH VANISHING WHITE |
| 248610 | 1.000 | DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT |
| 113705 | 1.000 | BREAST CANCER 1 GENE; |
| 604391 | 1.000 | ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD |
| 237300 | 1.000 | CARBAMOYL PHOSPHATE SYNTHETASE I |
| 277450 | 1.000 | VITAMIN K-DEPENDENT CLOTTING FACTORS, |
| 607136 | 1.000 | SPINOCEREBELLAR ATAXIA 17; SCA17 |
| 607822 | 1.000 | ALZHEIMER DISEASE, FAMILIAL, TYPE |
| 143100 | 1.000 | HUNTINGTON DISEASE; HD ;;HUNTINGTON |
| 306900 | 1.000 | HEMOPHILIA B; HEMB ;;CHRISTMAS |
| 233700 | 1.000 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL |
| 147670 | 1.000 | INSULIN RECEPTOR; INSR INSULIN |
| 137150 | 1.000 | 4-@AMINOBUTYRATE AMINOTRANSFERASE |
| 132600 | 1.000 | PILOMATRIXOMA ;;PILOMATRICOMA; PTR;; EPITHELIOMA |
| 236200 | 1.000 | HOMOCYSTINURIA ;;CYSTATHIONINE BETA-SYNTHASE DEFICIENCY;; |
| 245349 | 1.000 | PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN |
| 310200 | 1.000 | MUSCULAR DYSTROPHY, DUCHENNE TYPE; |
| 278760 | 1.000 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP |
| 232800 | 1.000 | GLYCOGEN STORAGE DISEASE VII |
| 600259 | 1.000 | POSTMEIOTIC SEGREGATION INCREASED, S. |
| 604307 | 1.000 | CATARACT, COPPOCK-LIKE; CCL ;;CATARACT, |
| 600155 | 1.000 | HIRSCHSPRUNG DISEASE 2; HSCR2 |
| 276904 | 1.000 | USHER SYNDROME, TYPE IC; |
| 601789 | 1.000 | PEROXISOME BIOGENESIS FACTOR 13; |
| 208900 | 1.000 | ATAXIA-TELANGIECTASIA; AT ;;AT1;; LOUIS-BAR |
| 120436 | 1.000 | MutL, E. COLI, HOMOLOG |
| 201460 | 1.000 | ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY |
| 125700 | 0.999 | DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE |
| 261600 | 0.999 | PHENYLKETONURIA ;;PKU;; PHENYLALANINE HYDROXYLASE |
| 606054 | 0.999 | PROPIONIC ACIDEMIA ;;PROPIONYL-CoA CARBOXYLASE |
| 207800 | 0.999 | ARGININEMIA ;;ARGINASE DEFICIENCY;; HYPERARGININEMIA;; |
| 177820 | 0.999 | PSEUDO-VON WILLEBRAND DISEASE ;;VON |
| 166200 | 0.999 | OSTEOGENESIS IMPERFECTA, TYPE I |
| 608099 | 0.999 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE |
| 166220 | 0.999 | OSTEOGENESIS IMPERFECTA, TYPE IV |
| 121050 | 0.999 | CONTRACTURAL ARACHNODACTYLY, CONGENITAL, BEALS |
| 133540 | 0.999 | COCKAYNE SYNDROME, TYPE B; |
| 166210 | 0.999 | OSTEOGENESIS IMPERFECTA CONGENITA; OIC |
| 276300 | 0.999 | TURCOT SYNDROME ;;MALIGNANT TUMORS |
| 300300 | 0.999 | BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; |
| 306000 | 0.998 | GLYCOGEN STORAGE DISEASE VIII |
| 607785 | 0.998 | JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML |
| 250950 | 0.998 | 3-@METHYLGLUTACONIC ACIDURIA, TYPE I |
| 277580 | 0.997 | WAARDENBURG-SHAH SYNDROME ;;WAARDENBURG SYNDROME, |
| 603073 | 0.997 | ZINC FINGER PROTEIN OF |
| 261630 | 0.997 | PHENYLKETONURIA II ;;PKU2;; PKU, |
| 170995 | 0.997 | ATP-BINDING CASSETTE, SUBFAMILY D, |
| 180071 | 0.995 | PHOSPHODIESTERASE 6A, cGMP-SPECIFIC, ROD, |
| 118200 | 0.995 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE |
| 264350 | 0.995 | PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL |
| 155601 | 0.995 | MELANOMA, CUTANEOUS MALIGNANT, 2; |
| 176860 | 0.995 | PROTEIN C DEFICIENCY, CONGENITAL |
| 600501 | 0.994 | ABCD SYNDROME ;;ALBINISM, BLACK |
| 603147 | 0.994 | CONGENITAL DISORDER OF GLYCOSYLATION, |
| 300100 | 0.994 | ADRENOLEUKODYSTROPHY; ALD ;;ADDISON DISEASE |
| 188040 | 0.993 | THROMBOMODULIN; THBD ;;THRM THROMBOPHILIA |
| 605407 | 0.993 | SEGAWA SYNDROME, AUTOSOMAL RECESSIVE |
| 602730 | 0.992 | ACTIVIN A RECEPTOR, TYPE |
| 188055 | 0.992 | THROMBOPHILIA DUE TO DEFICIENCY |
| 608810 | 0.991 | ALPHA-B CRYSTALLINOPATHY ;;MYOPATHY, DESMIN-RELATED, |
| 236250 | 0.990 | HOMOCYSTINURIA DUE TO DEFICIENCY |
| 107741 | 0.990 | APOLIPOPROTEIN E; APOE APOLIPOPROTEIN |
| 230650 | 0.987 | GANGLIOSIDOSIS, GENERALIZED GM1, TYPE |
| 142680 | 0.987 | PERIODIC FEVER, FAMILIAL, AUTOSOMAL |
| 309400 | 0.987 | MENKES DISEASE ;;MK; MNK;; |
| 609015 | 0.981 | TRIFUNCTIONAL PROTEIN DEFICIENCY ;;MITOCHONDRIAL |
| 600258 | 0.981 | POSTMEIOTIC SEGREGATION INCREASED, S. |
| 230600 | 0.978 | GANGLIOSIDOSIS, GENERALIZED GM1, TYPE |
| 277900 | 0.978 | WILSON DISEASE ;;WND; WD;; |
| 231900 | 0.977 | GLUTATHIONE SYNTHETASE DEFICIENCY OF |
| 601265 | 0.976 | NODAL, MOUSE, HOMOLOG OF; |
| 109400 | 0.975 | BASAL CELL NEVUS SYNDROME; |
| 605253 | 0.968 | NEUROPATHY, CONGENITAL HYPOMYELINATING ;;CONGENITAL |
| 600060 | 0.967 | DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE |
| 601067 | 0.965 | USHER SYNDROME, TYPE ID; |
| 601547 | 0.964 | CATARACT, CONGENITAL, CERULEAN TYPE, |
| 264470 | 0.961 | PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY |
| 603041 | 0.959 | MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; |
| 102610 | 0.958 | ACTIN, ALPHA, SKELETAL MUSCLE |
| 188050 | 0.956 | THROMBOPHILIA VENOUS THROMBOEMBOLISM, INCLUDED |
| 601544 | 0.951 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC |
| 118220 | 0.951 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE |
| 222748 | 0.950 | DIHYDROPYRIMIDINASE; DPYS DIHYDROPYRIMIDINURIA, INCLUDED;; |
| 201910 | 0.947 | ADRENAL HYPERPLASIA, CONGENITAL |
| 130060 | 0.944 | EHLERS-DANLOS SYNDROME, TYPE VII, |
| 262300 | 0.942 | ACHROMATOPSIA 3; ACHM3 ;;PINGELAPESE |
| 203300 | 0.941 | HERMANSKY-PUDLAK SYNDROME; HPS ;;ALBINISM |
| 230500 | 0.940 | GANGLIOSIDOSIS, GENERALIZED GM1, TYPE |
| 603909 | 0.937 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE |
| 250940 | 0.937 | METHYLCOBALAMIN DEFICIENCY, cblG TYPE |
| 173900 | 0.936 | POLYCYSTIC KIDNEYS ;;POLYCYSTIC KIDNEY |
| 233690 | 0.936 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL |
| 256540 | 0.936 | NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE |
| 252011 | 0.933 | MITOCHONDRIAL COMPLEX II DEFICIENCY |
| 125310 | 0.922 | CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, |
| 276600 | 0.919 | TYROSINE TRANSAMINASE DEFICIENCY ;;TYROSINE |
| 601386 | 0.918 | DEAFNESS, AUTOSOMAL RECESSIVE 12; |
| 304150 | 0.913 | CUTIS LAXA, X-LINKED ;;OCCIPITAL |
| 262190 | 0.912 | PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES |
| 138040 | 0.911 | GLUCOCORTICOID RECEPTOR; GCCR ;;GCR; |
| 253260 | 0.906 | BIOTINIDASE DEFICIENCY MULTIPLE CARBOXYLASE |
| 305900 | 0.904 | GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD ANEMIA, |
| 305100 | 0.902 | ECTODERMAL DYSPLASIA 1, ANHIDROTIC; |
| 605373 | 0.902 | PARAGANGLIOMAS 3; PGL3 ;;GLOMUS |
| 216900 | 0.900 | ACHROMATOPSIA 2; ACHM2 ;;COLORBLINDNESS, |
| 253000 | 0.899 | MUCOPOLYSACCHARIDOSIS TYPE IVA ;;MPS |
| 142900 | 0.899 | HOLT-ORAM SYNDROME; HOS ;;HOS1;; |
| 607791 | 0.895 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE |
| 207900 | 0.890 | ARGININOSUCCINIC ACIDURIA ;;ARGININOSUCCINASE DEFICIENCY;; |
| 253270 | 0.890 | HOLOCARBOXYLASE SYNTHETASE DEFICIENCY ;;HLCS |
| 215700 | 0.890 | CITRULLINEMIA, CLASSIC ;;CITRULLINEMIA, TYPE |
| 176200 | 0.886 | PORPHYRIA VARIEGATA ;;VARIEGATE PORPHYRIA; |
| 210900 | 0.874 | BLOOM SYNDROME; BLM ;;BS; |
| 209880 | 0.855 | AUTONOMIC CONTROL, CONGENITAL FAILURE |
| 150100 | 0.832 | LACTATE DEHYDROGENASE-B; LDHB ;;LDH, |
| 142623 | 0.830 | HIRSCHSPRUNG DISEASE ;;HSCR;; HIRSCHSPRUNG |
| 609192 | 0.822 | LOEYS-DIETZ SYNDROME; LDS ;;LOEYS-DIETZ |
| 143890 | 0.822 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT ;;FHC; |
| 606719 | 0.814 | MELANOMA-PANCREATIC CANCER SYNDROME ;;FAMILIAL |
| 114480 | 0.813 | BREAST CANCER ;;BREAST CANCER, |
| 168600 | 0.807 | PARKINSON DISEASE |
| 235200 | 0.801 | HEMOCHROMATOSIS; HFE ;;HLAH;; HEMOCHROMATOSIS, |
| 261550 | 0.799 | PERSISTENT MULLERIAN DUCT SYNDROME, |
| 607133 | 0.795 | CATARACT, SUTURAL, WITH PUNCTATE |
| 303100 | 0.794 | CHOROIDEREMIA; CHM ;;TAPETOCHOROIDAL DYSTROPHY, |
| 230450 | 0.792 | GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC |
| 103850 | 0.788 | ALDOLASE A, FRUCTOSE-BISPHOSPHATEALDOLASE A |
| 240600 | 0.774 | GLYCOGEN STORAGE DISEASE 0 |
| 129600 | 0.762 | ECTOPIA LENTIS FAMILIAL, ISOLATED |
| 212066 | 0.760 | CONGENITAL DISORDER OF GLYCOSYLATION, |
| 607014 | 0.758 | HURLER SYNDROME ;;MUCOPOLYSACCHARIDOSIS TYPE |
| 600121 | 0.753 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE |
| 125853 | 0.747 | DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM |
| 301500 | 0.742 | FABRY DISEASE ;;ANGIOKERATOMA, DIFFUSE;; |
| 248600 | 0.730 | MAPLE SYRUP URINE DISEASE |
| 133780 | 0.727 | EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL |
| 607941 | 0.715 | ATRIAL SEPTAL DEFECT 2; |
| 309900 | 0.696 | MUCOPOLYSACCHARIDOSIS TYPE II ;;MPS |
| 214150 | 0.689 | CEREBROOCULOFACIOSKELETAL SYNDROME ;;COFS SYNDROME;; |
| 607624 | 0.685 | GRISCELLI SYNDROME, TYPE 2; |
| 201470 | 0.682 | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY |
| 304800 | 0.681 | DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED |
| 600946 | 0.652 | GROWTH HORMONE RECEPTOR; GHR |
| 130000 | 0.636 | EHLERS-DANLOS SYNDROME, TYPE I |
| 121300 | 0.632 | COPROPORPHYRIA ;;COPROPORPHYRINOGEN OXIDASE DEFICIENCY;; |
| 162500 | 0.625 | NEUROPATHY, HEREDITARY, WITH LIABILITY |
| 209300 | 0.623 | ATRANSFERRINEMIA ;;HYPOTRANSFERRINEMIA, FAMILIAL |
| 276903 | 0.596 | MYOSIN VIIA; MYO7A ;;MYOSIN, |
| 229600 | 0.578 | FRUCTOSE INTOLERANCE, HEREDITARY ;;FRUCTOSEMIA;; |
| 154700 | 0.571 | MARFAN SYNDROME; MFS ;;MARFAN |
| 607855 | 0.552 | MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, |
| 258870 | 0.547 | ORNITHINE AMINOTRANSFERASE DEFICIENCY ;;OAT |
| 134570 | 0.546 | FACTOR XIII, A1 SUBUNIT; |
| 177200 | 0.542 | LIDDLE SYNDROME ;;PSEUDOALDOSTERONISM |
| 161400 | 0.526 | NARCOLEPSY 1; NRCLP1 ;;NARCOLEPTIC |
| 135290 | 0.523 | DESMOID DISEASE, HEREDITARY ;;FIBROMATOSIS, |
| 266510 | 0.521 | REFSUM DISEASE, INFANTILE FORM |
| 253010 | 0.518 | MUCOPOLYSACCHARIDOSIS TYPE IVB ;;MPS |
| 600802 | 0.510 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL |
| 202010 | 0.500 | ADRENAL HYPERPLASIA, CONGENITAL, DUE |
| 124080 | 0.473 | CYTOCHROME P450, SUBFAMILY XIB, |
| 601317 | 0.465 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC |
| 603554 | 0.459 | OMENN SYNDROME ;;RETICULOENDOTHELIOSIS, FAMILIAL, |
| 601457 | 0.453 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL |
| 275200 | 0.449 | THYROTROPIN RESISTANCE ;;THYROTROPIN RESISTANCE, |
| 227810 | 0.449 | FANCONI-BICKEL SYNDROME; FBS ;;HEPATORENAL |
| 601110 | 0.441 | CONGENITAL DISORDER OF GLYCOSYLATION, |
| 271980 | 0.431 | ALDEHYDE DEHYDROGENASE 5 FAMILY, |
| 276700 | 0.423 | TYROSINEMIA, TYPE I ;;HEPATORENAL |
| 266150 | 0.420 | PYRUVATE CARBOXYLASE DEFICIENCY ;;PC |
| 137750 | 0.411 | GLAUCOMA, PRIMARY OPEN ANGLE, |
| 176880 | 0.411 | PROTEIN S, ALPHA DEFICIENCY |
| 601399 | 0.407 | PLATELET DISORDER, FAMILIAL, WITH |
| 606762 | 0.387 | HYPERINSULINISM-HYPERAMMONEMIA SYNDROME |
| 146110 | 0.386 | HYPOGONADOTROPIC HYPOGONADISM ;;HYPOGONADISM, ISOLATED |
| 231680 | 0.382 | MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; |
| 600996 | 0.368 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, |
| 274270 | 0.359 | DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD ;;DPD;; |
| 608328 | 0.359 | WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT |
| 180849 | 0.352 | RUBINSTEIN-TAYBI SYNDROME |
| 202400 | 0.351 | AFIBRINOGENEMIA, CONGENITAL HYPOFIBRINOGENEMIA, CONGENITAL, |
| 222765 | 0.338 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE |
| 604772 | 0.320 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC; |
| 600962 | 0.309 | PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK |
| 136520 | 0.303 | FOVEAL HYPOPLASIA AND PRESENILE |
| 251880 | 0.291 | MITOCHONDRIAL DNA DEPLETION SYNDROME, |
| 103500 | 0.289 | TIETZ SYNDROME |
| 103470 | 0.268 | ALBINISM, OCULAR, WITH SENSORINEURAL |
| 256550 | 0.267 | NEURAMINIDASE DEFICIENCY ;;SIALIDOSIS, TYPE |
| 608320 | 0.265 | CORONARY ARTERY DISEASE, AUTOSOMAL |
| 155255 | 0.265 | MEDULLOBLASTOMA ;;MDB MEDULLOBLASTOMA, DESMOPLASTIC, |
| 600678 | 0.245 | MutS, E. COLI, HOMOLOG |
| 605839 | 0.229 | LEIOMYOMATOSIS AND RENAL CELL |
| 229300 | 0.226 | FRIEDREICH ATAXIA 1; FRDA |
| 142945 | 0.226 | HOLOPROSENCEPHALY 3 |
| 167200 | 0.222 | PACHYONYCHIA CONGENITA, TYPE 1; |
| 605462 | 0.221 | BASAL CELL CARCINOMA, MULTIPLE |
| 202110 | 0.220 | ADRENAL HYPERPLASIA, CONGENITAL, DUE |
| 152790 | 0.215 | LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR |
| 601240 | 0.209 | GUANIDINOACETATE METHYLTRANSFERASE; GAMT GUANIDINOACETATE |
| 607736 | 0.200 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE |
| 180800 | 0.198 | ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA |
| 278400 | 0.191 | RUFOUS OCULOCUTANEOUS ALBINISM; ROCA |
| 137760 | 0.179 | GLAUCOMA, PRIMARY OPEN ANGLE, |
| 115310 | 0.175 | PARAGANGLIOMAS 4; PGL4 ;;CAROTID |
| 176670 | 0.173 | HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS |
| 130070 | 0.173 | EHLERS-DANLOS SYNDROME, PROGEROID FORM |
| 607341 | 0.172 | FOCAL CORTICAL DYSPLASIA OF |
| 203400 | 0.167 | ALDOSTERONE DEFICIENCY DUE TO |
| 604284 | 0.166 | MATURITY-ONSET DIABETES OF THE |
| 191100 | 0.164 | TUBEROUS SCLEROSIS; TS ;;TUBEROSE |
| 148210 | 0.164 | KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT |
| 600274 | 0.160 | FRONTOTEMPORAL DEMENTIA ;;FRONTOTEMPORAL LOBAR |
| 276710 | 0.155 | TYROSINEMIA, TYPE III ;;4-@HYDROXYPHENYLPYRUVIC |
| 125851 | 0.153 | MATURITY-ONSET DIABETES OF THE |
| 120580 | 0.144 | COMPLEMENT COMPONENT 1, s |
| 151670 | 0.135 | LIPASE, HEPATIC; LIPC ;;LIPH;; |
| 102700 | 0.132 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL |
| 193510 | 0.130 | WAARDENBURG SYNDROME, TYPE IIA; |
| 209950 | 0.122 | ATYPICAL MYCOBACTERIOSIS, FAMILIAL ;;ATYPICAL |
| 150800 | 0.120 | LEIOMYOMA, HEREDITARY MULTIPLE, OF |
| 311800 | 0.120 | PHOSPHOGLYCERATE KINASE 1; PGK1 |
| 278300 | 0.118 | XANTHINURIA, TYPE I ;;XANTHINE |
| 235800 | 0.117 | HISTIDINEMIA ;;HISTIDINE AMMONIA-LYASE DEFICIENCY;; |
| 125270 | 0.117 | ALADH DELTA-AMINOLEVULINATE DEHYDRATASE DEFICIENCY |
| 158590 | 0.114 | NEUROPATHY, DISTAL HEREDITARY MOTOR, |
| 211980 | 0.112 | LUNG CANCER ALVEOLAR CELL |
| 171300 | 0.111 | PHEOCHROMOCYTOMA |
| 144200 | 0.109 | PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK |
| 268000 | 0.105 | RETINITIS PIGMENTOSA; RP |
| 309550 | 0.102 | FRAGILE SITE MENTAL RETARDATION |
| 120430 | 0.101 | COLOBOMA OF OPTIC NERVE |