0.6759	2.1943	OMIM:614300	#614300 HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY	ADK	132
0.6759	2.1756	OMIM:232500	#232500 GLYCOGEN STORAGE DISEASE IV; GSD4;;GSD IV;;GLYCOGEN BRANCHING ENZYME DEFICIENCY;;GBE1 DEFICIENCY;;ANDERSEN DISEASE;;BRANCHER DEFICIENCY;;GLYCOGENOSIS IV;;AMYLOPECTINOSIS;;CIRRHOSIS, FAMILIAL, WITH DEPOSITION OF ABNORMAL GLYCOGENGSD IV, CLASSIC HEPATIC, INCLUDED;;GSD IV, NONPROGRESSIVE HEPATIC, INCLUDED;;GSD IV, NEUROMUSCULAR FORM, FATAL PERINATAL, INCLUDED;;GSD IV, NEUROMUSCULAR FORM, CONGENITAL, INCLUDED;;GSD IV, NEUROMUSCULAR FORM, CHILDHOOD, INCLUDED;;GSD IV, NEUROMUSCULAR FORM, ADULT, WITH ISOLATED MYOPATHY, INCLUDED	GBE1	2632
0.7725	1.5612	OMIM:608776	ALG9-CDG	ALG9	79796
0.9138	3.3912	OMIM:614389	#614389 PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1; RPRGL1;;RPRGL;;RPL;;ABORTION, SPONTANEOUS, RECURRENT;;FETAL LOSS, RECURRENT, SUSCEPTIBILITY TO;;MISCARRIAGE, RECURRENT;;EMBRYONIC LOSS, RECURRENT;;STILLBIRTH, RECURRENT		
0.9138	3.3912	OMIM:610504	#610504 PRETERM PREMATURE RUPTURE OF THE MEMBRANES; PPROM	SERPINH1	871
0.9138	3.3912	OMIM:614390	#614390 PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2; RPRGL2		
0.9138	3.3912	OMIM:614674	#614674 PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT	HTR1A	3350
0.9138	3.3912	OMIM:614391	#614391 PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3; RPRGL3		
0.9138	3.3912	OMIM:300087	#300087 X INACTIVATION, FAMILIAL SKEWED, 1; SXI1	XIST	7503
0.9138	2.0340	OMIM:615878	#615878 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4	TJP2	9414
0.9138	2.0124	OMIM:214200	CEROID STORAGE DISEASE		
0.9138	1.9563	OMIM:214950	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4	AMACR	23600
0.9138	1.9321	OMIM:614894	#614894 MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE;;IRF8 DEFICIENCY, AUTOSOMAL RECESSIVE	IRF8	3394
0.9138	1.9292	OMIM:300923	#300923 MENTAL RETARDATION, X-LINKED 100; MRX100	KIF4A	24137
0.9138	1.8730	ORPHANET:71493	FAMILIAL THROMBOCYTOSIS		
0.9138	1.8670	OMIM:613812	#613812 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3; CBAS3	CYP7B1	9420
0.9138	1.8471	OMIM:613489	#613489 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ; CDG2J;;CDG IIJ; CDGIIJ	COG4	25839
0.9138	1.8284	OMIM:222470	#222470 TRICHOHEPATOENTERIC SYNDROME 1; THES1;;THE SYNDROME;;DIARRHEA, SYNDROMIC;;DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA	TTC37	9652
0.9138	1.8248	ORPHANET:99829	YELLOW FEVER		
0.9138	1.7781	ORPHANET:33271	NON-ALCOHOLIC FATTY LIVER DISEASE		
0.9138	1.7703	OMIM:257220	NIEMANN-PICK DISEASE, TYPE C1	NPC1	4864
0.9138	1.7634	OMIM:235555	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2	AKR1D1	6718
0.9138	1.7401	OMIM:614702	#614702 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10; COXPD10;;CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL, AND LACTIC ACIDOSIS	MTO1	25821
0.9138	1.7164	OMIM:255120	#255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY;;CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY;;CPT I DEFICIENCY;;CPT DEFICIENCY, HEPATIC, TYPE I	CPT1A	1374
0.9138	1.7112	OMIM:614507	#614507 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR; CDG1R	DDOST	1650
0.9138	1.7087	OMIM:230400	GALACTOSEMIA	GALT	2592
0.9138	1.7085	OMIM:615207	#615207 IL21R IMMUNODEFICIENCY	IL21R	50615
0.9138	1.6957	OMIM:608540	#608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK; CDG1K;;CDG IK; CDGIK	ALG1	56052
0.9138	1.6804	OMIM:130060	#130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT;;EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE;;EDS VIIA; EDS7A;;ARTHROCHALASIS MULTIPLEX CONGENITA;;EDS VII, MUTANT PROCOLLAGEN TYPEEDS VIIB, INCLUDED; EDS7B, INCLUDED	COL1A2, COL1A1	1278, 1277
0.9138	1.6714	OMIM:265950	PYLORIC ATRESIA		
0.9138	1.6681	OMIM:231100	HEMOCHROMATOSIS, NEONATAL		
0.9138	1.6427	OMIM:238970	#238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME;;HHH SYNDROME; HHHS; HHH;;ORNITHINE TRANSLOCASE DEFICIENCY	SLC25A15	10166
0.9138	1.6363	OMIM:203700	#203700 MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A;;ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS;;ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY;;ALPERS SYNDROME;;ALPERS-HUTTENLOCHER SYNDROME;;NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVE;PNDC	POLG	5428
0.9138	1.6346	ORPHANET:99927	HYDATIDIFORM MOLE		
0.9138	1.6191	ORPHANET:48372	NODULAR REGENERATIVE HYPERPLASIA OF THE LIVER		
0.9138	1.6175	OMIM:613412	%613412 ESOPHAGITIS, EOSINOPHILIC, 2; EOE2		
0.9138	1.6175	OMIM:610247	%610247 ESOPHAGITIS, EOSINOPHILIC, 1; EOE1;;ESOPHAGITIS, EOSINOPHILIC; EE		
0.9138	1.5952	ORPHANET:352	GALACTOSEMIA		
0.9138	1.5825	OMIM:270960	#270960 SPERMATOGENIC FAILURE 4; SPGF4;;AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS;;AZOOSPERMIA WITH MATURATION ARREST;;SPERMATOGENESIS ARRESTPREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 4; RPRGL4	SYCP3	50511
0.9138	1.5694	OMIM:614833	#614833 POLYMICROGYRIA WITH SEIZURES; PMGYS	RTTN	25914
0.9138	1.5618	OMIM:609015	#609015 TRIFUNCTIONAL PROTEIN DEFICIENCY;;MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCYTRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY, INCLUDED	HADHB, HADHA	3032, 3030
0.9138	1.5606	OMIM:613280	%613280 HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS; HMDPC	SLC30A10	55532
0.9138	1.5590	OMIM:189800	PREECLAMPSIA/ECLAMPSIA 1		
0.9138	1.5564	ORPHANET:660	OMPHALOCELE		
0.9138	1.5235	OMIM:616116	#616116 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46; MRT46	NDST1	3340
0.9138	1.5224	ORPHANET:702	MOVED TO		
0.9138	1.5201	OMIM:266200	PYRUVATE KINASE DEFICIENCY OF RED CELLS	PKLR	5313
0.9138	1.5073	ORPHANET:946	ACROCEPHALOSYNDACTYLY		
0.9138	1.4989	OMIM:211600	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1	ATP8B1	5205
0.9138	1.4847	OMIM:613291	#613291 BILE ACID MALABSORPTION, PRIMARY; PBAM	SLC10A2	6555
0.9138	1.4446	OMIM:615597	#615597 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX; CDG1X;;CDG IX; CDGIX	STT3B	201595
0.9138	1.4442	OMIM:300062	MENTAL RETARDATION, X-LINKED 14		
0.9138	1.4280	OMIM:613217	#613217 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL; DIAR5;;ENTEROPATHY, CONGENITAL TUFTING; CTE;;INTESTINAL EPITHELIAL CELL DYSPLASIA	EPCAM	4072
0.9138	1.4167	OMIM:610090	PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY	PNPO	55163
0.9138	1.4128	OMIM:614340	#614340 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27; MRT27	LINS	55180
0.9138	1.4110	OMIM:615457	#615457 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18; BMIQ18;;OBESITY, SUSCEPTIBILITY TO		
0.9138	1.4088	OMIM:614883	#614883 PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 13, INCLUDED;CG13, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP H, INCLUDED;CGH, INCLUDED	PEX13	5194
0.9138	1.4057	OMIM:266100	#266100 EPILEPSY, PYRIDOXINE-DEPENDENT; EPD;;PYRIDOXINE-DEPENDENT EPILEPSY; PDE;;PYRIDOXINE DEPENDENCY WITH SEIZURES;;AASA DEHYDROGENASE DEFICIENCY	ALDH7A1	501
0.9138	1.3971	OMIM:230350	#230350 GALACTOSE EPIMERASE DEFICIENCY;;GALE DEFICIENCY;;GALACTOSEMIA III;;UDP-GALACTOSE-4-EPIMERASE DEFICIENCY	GALE	2582
0.9138	1.3934	OMIM:614388	#614388 ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMALFISSION; EMPF	DNM1L	10059
0.9138	1.3605	OMIM:614044	614044 TRYPSINOGEN DEFICIENCY	PRSS1	5644
0.9138	1.3579	OMIM:214700	#214700 DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL; DIAR1;;CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE;;CHLORIDORRHEA, CONGENITAL	SLC26A3	1811
0.9138	1.3489	OMIM:615119	#615119 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASEDEFICIENCY 2; CEMCOX2	COX15	1355
0.9138	1.3457	OMIM:300928	#300928 MENTAL RETARDATION, X-LINKED 101; MRX101	MID2	11043
0.9138	1.3408	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	NAGS	162417
0.9138	1.3349	OMIM:210200	#210200 3-@METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY;;MCCD TYPE 1;;MCC1 DEFICIENCY;;3-@METHYLCROTONYLGLYCINURIA I;;METHYLCROTONYLGLYCINURIA TYPE I	MCCC1	56922
0.9138	1.3245	OMIM:179010	PYLORIC STENOSIS, INFANTILE HYPERTROPHIC 1		
0.9138	1.3165	OMIM:614582	#614582 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9	MRPL3	11222
0.9138	1.2934	OMIM:277100	VALINEMIA		
0.9138	1.2739	ORPHANET:293	CONGENITAL HERPES VIRUS INFECTION		
0.9138	1.2338	OMIM:615595	#615595 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19; COXPD19	LYRM4	57128
0.9138	1.1960	OMIM:613671	#613671 MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS;MRAMS	SOBP	55084
0.9138	1.1912	ORPHANET:367	GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY		
0.9138	1.1843	OMIM:615833	#615833 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21; EIEE21	NECAP1	25977
0.9138	1.1719	OMIM:232700	#232700 GLYCOGEN STORAGE DISEASE VI;;GSD VI; GSD6;;HERS DISEASE;;PHOSPHORYLASE DEFICIENCY GLYCOGEN-STORAGE DISEASE OF LIVER	PYGL	5836
0.9138	1.1355	OMIM:615596	#615596 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W;;CDG IW; CDGIW	STT3A	3703
0.9138	1.1326	OMIM:127700	DYSLEXIA, SUSCEPTIBILITY TO, 1		
0.9138	1.1101	ORPHANET:85318	X-LINKED INTELLECTUAL DISABILITY - PRECOCIOUS PUBERTY - OBESITY		
0.9138	1.1072	OMIM:266250	RADICULONEUROPATHY, FATAL NEONATAL		
0.9138	1.0895	OMIM:226200	ENTEROKINASE DEFICIENCY	TMPRSS15	5651
0.9138	1.0430	OMIM:614037	614037 LEUKOTRIENE C4 SYNTHASE DEFICIENCY;;LTC4 SYNTHASE DEFICIENCY	LTC4S	4056
0.9138	1.0249	DECIPHER:57	17Q21.31 RECURRENT MICRODELETION SYNDROME		
0.9138	1.0118	OMIM:613886	#613886 OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	NTRK2	4915
0.9138	0.9823	DECIPHER:72	22Q11.2 DISTAL DELETION SYNDROME		
0.9138	0.9480	OMIM:127100	DWARFISM, LEVI TYPE		
0.9138	0.8466	OMIM:190430	TRIGLYCERIDE STORAGE DISEASE, TYPE II		
0.9138	0.8466	OMIM:601665	OBESITYLEANNESS, INCLUDED	PPARG, NR0B2, MC4R, SIM1	5468, 8431, 4160, 6492
0.9138	0.8123	OMIM:614023	#614023 PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD	PSPH	5723
0.9192	1.1072	OMIM:610370	DIARRHEA 4, MALABSORPTIVE, CONGENITAL	NEUROG3	50674
0.9366	1.7200	OMIM:278000	LYSOSOMAL ACID LIPASE DEFICIENCY	LIPA	3988
0.9366	1.3797	OMIM:615731	#615731 NEMALINE MYOPATHY 9; NEM9	KLHL41	10324
0.9366	1.1835	ORPHANET:30925	HEREDITARY CENTRAL DIABETES INSIPIDUS		
0.9366	0.9831	ORPHANET:85331	X-LINKED INTELLECTUAL DISABILITY - HYPOGONADISM - ICHTHYOSIS - OBESITY - SHORT STATURE		
0.9419	1.6022	OMIM:311250	#311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO;;ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY;;OTC DEFICIENCYVALPROATE SENSITIVITY, INCLUDED	OTC	5009
0.9419	1.4696	OMIM:267010	NPHP3-RELATED MECKEL-LIKE SYNDROME	NPHP3	27031
0.9419	1.3187	OMIM:614480	#614480 HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE; HTGTI	GPD1	2819
0.9419	1.2563	ORPHANET:295	FETAL PARVOVIRUS SYNDROME		
0.9419	1.2329	OMIM:242520	ICHTHYOSIS, HEPATOSPLENOMEGALY, AND CEREBELLAR DEGENERATION		
0.9419	1.2290	OMIM:606711	%606711 SPECIFIC LANGUAGE IMPAIRMENT 1; SLI1;;SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME16		
0.9419	1.2290	OMIM:606712	%606712 SPECIFIC LANGUAGE IMPAIRMENT 2; SLI2;;SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME19		
