Benchmark complexes
Network data for the disease related proteins correctly identifed in the benchmark cross validations.

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.

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MIM #Best ScoreTitle
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

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