GWAS Hits Occur in Genes that Also Cause Single Gene Disorders

I filtered the NHGRI list of GWAS results for genes associated with genome-wide significant (pvalue <5e-8) GWAS hits. I then annotated them for known causal roles in Mendelian phenotypes and diseases. [Please Make Suggestions for Inclusion and Exclusion]

My generalization is that the space of disease-causing genes is limited. Some gene mutations lead to early lethality - unhappy outcome but no disease burden in live borne population. Some genes are 'redundant' or the variation is not perceived as pathological in the present environment.

MIM Morbid Accession	MIM Morbid Description	HGNC symbol
205400	TANGIER DISEASE; TGD	ABCA1
600046	ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1	ABCA1
604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY	ABCA1
601847	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2	ABCB11
605479	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2; BRIC2	ABCB11
138900	URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1	ABCG2
614490	BLOOD GROUP, JUNIOR SYSTEM; JR	ABCG2
210250	SITOSTEROLEMIA	ABCG5
210250	SITOSTEROLEMIA	ABCG8
611465	GALLBLADDER DISEASE 4; GBD4	ABCG8
612674	POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT;	ABHD12
110300	ABO GLYCOSYLTRANSFERASE; ABO	ABO
613933	ACETYL-CoA CARBOXYLASE DEFICIENCY; ACACAD	ACACA
201475	ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD	ACADL
201450	ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD	ACADM
201470	ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD	ACADS
106180	ANGIOTENSIN I-CONVERTING ENZYME; ACE	ACE
267430	RENAL TUBULAR DYSGENESIS; RTD	ACE
601367	STROKE, ISCHEMIC	ACE
612624	MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3; MVCD3	ACE
614519	HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH	ACE
112100	YT BLOOD GROUP ANTIGEN	ACHE
612098	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11	ACTC1
612794	ATRIAL SEPTAL DEFECT 5; ASD5	ACTC1
613424	CARDIOMYOPATHY, DILATED, 1R; CMD1R	ACTC1
600376	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2	ACVRL1
102700	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,	ADA
277600	WEILL-MARCHESANI SYNDROME 1; WMS1	ADAMTS10
274150	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP	ADAMTS13
613195	WEILL-MARCHESANI-LIKE SYNDROME	ADAMTS17
608454	KNOBLOCH SYNDROME 2; KNO2	ADAMTS18
606703	DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM	ADCY5
125853	DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM	ADIPOQ
612556	ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; ADIPQTL1	ADIPOQ
614300	HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY	ADK
607276	RESTING HEART RATE, VARIATION IN	ADRB1
104150	ALPHA-FETOPROTEIN; AFP	AFP
608629	JOUBERT SYNDROME 3; JBTS3	AHI1
109100	AUTOIMMUNE DISEASE	AIRE
240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1	AIRE
115080	CARDIAC CONDUCTION DEFECT	AKAP10
103600	ALBUMIN; ALB	ALB
100650	ALDEHYDE DEHYDROGENASE 2 FAMILY; ALDH2	ALDH2
610251	ALCOHOL SENSITIVITY, ACUTE	ALDH2
271980	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD	ALDH5A1
266100	EPILEPSY, PYRIDOXINE-DEPENDENT; EPD	ALDH7A1
229600	FRUCTOSE INTOLERANCE, HEREDITARY	ALDOB
608540	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K	ALG1
203800	ALSTROM SYNDROME; ALMS	ALMS1
146300	HYPOPHOSPHATASIA, ADULT	ALPL
241500	HYPOPHOSPHATASIA, INFANTILE	ALPL
241510	HYPOPHOSPHATASIA, CHILDHOOD	ALPL
605019	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2	ANGPTL3
182900	SPHEROCYTOSIS, TYPE 1; SPH1	ANK1
262890	SCOTT SYNDROME; SCTS	ANO6
602089	HEMANGIOMA, CAPILLARY INFANTILE	ANTXR1
105200	AMYLOIDOSIS, FAMILIAL VISCERAL	APOA1
205400	TANGIER DISEASE; TGD	APOA1
604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY	APOA1
144650	HYPERLIPOPROTEINEMIA, TYPE V	APOA5
145750	HYPERTRIGLYCERIDEMIA, FAMILIAL	APOA5
107730	APOLIPOPROTEIN B; APOB	APOB
144010	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B	APOB
207750	APOLIPOPROTEIN C-II DEFICIENCY	APOC2
614028	HYPERALPHALIPOPROTEINEMIA 2; HALP2	APOC3
207750	APOLIPOPROTEIN C-II DEFICIENCY	APOC4
104310	ALZHEIMER DISEASE 2	APOE
107741	APOLIPOPROTEIN E; APOE	APOE
143890	HYPERCHOLESTEROLEMIA, FAMILIAL	APOE
269600	SEA-BLUE HISTIOCYTE DISEASE	APOE
611771	LIPOPROTEIN GLOMERULOPATHY; LPG	APOE
612551	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO; FSGS4	APOL1
110450	BLOOD GROUP--COLTON; CO	AQP1
300068	ANDROGEN INSENSITIVITY SYNDROME; AIS	AR
312300	ANDROGEN INSENSITIVITY, PARTIAL; PAIS	AR
313200	SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1	AR
613065	LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL	ARID5B
613778	MACULAR DEGENERATION, AGE-RELATED, 8; ARMD8	ARMS2
302950	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1	ARSE
611742	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9; SHEP9	ASIP
271900	CANAVAN DISEASE	ASPA
608716	MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5	ASPM
612160	HISTIOCYTOMA, ANGIOMATOID FIBROUS	ATF1
611081	INFLAMMATORY BOWEL DISEASE 10; IBD10	ATG16L1
208900	ATAXIA-TELANGIECTASIA; AT	ATM
221900	RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL; RNANC	ATOH7
105830	ANGELMAN SYNDROME; AS	ATP10A
601003	BRODY MYOPATHY	ATP2A1
219200	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A	ATP6V0A2
278250	WRINKLY SKIN SYNDROME; WSS	ATP6V0A2
147480	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1	ATP8B1
211600	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1	ATP8B1
243300	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1	ATP8B1
183090	SPINOCEREBELLAR ATAXIA 2; SCA2	ATXN2
109150	MACHADO-JOSEPH DISEASE; MJD	ATXN3
114550	HEPATOCELLULAR CARCINOMA	AXIN1
607864	CAUDAL DUPLICATION ANOMALY	AXIN1
261540	PETERS-PLUS SYNDROME	B3GALTL
607091	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D	B4GALT1
612954	MYOPATHY, MYOFIBRILLAR 6, MFM6	BAG3
613881	CARDIOMYOPATHY, DILATED, 1HH; CMD1HH	BAG3
152700	SYSTEMIC LUPUS ERYTHEMATOSUS; SLE	BANK1
209900	BARDET-BIEDL SYNDROME; BBS	BBS9
601583	WILMS TUMOR 5; WT5	BBS9
177400	BUTYRYLCHOLINESTERASE; BCHE	BCHE
142335	FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5; HBFQTL5	BCL11A
115300	HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT	BCMO1
209880	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS	BDNF
610269	BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2; BULN2	BDNF
153700	MACULAR DYSTROPHY, VITELLIFORM; VMD	BEST1
193220	VITREORETINOCHOROIDOPATHY; VRCP	BEST1
608161	MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET	BEST1
611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB	BEST1
613194	RETINITIS PIGMENTOSA 50; RP50	BEST1
601331	RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO; CYSRD	BICC1
255200	MYOPATHY, CENTRONUCLEAR, 2; CNM2	BIN1
613375	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11; MODY11	BLK
600625	OROFACIAL CLEFT 11; OFC11	BMP4
607932	MICROPHTHALMIA, SYNDROMIC 6; MCOPS6	BMP4
611185	RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6; RLS6	BTBD9
612387	SARCOIDOSIS, SUSCEPTIBILITY TO, 2; SS2	BTNL2
217000	COMPLEMENT COMPONENT 2 DEFICIENCY; C2D	C2
603075	MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1	C2
611378	MACULAR DEGENERATION, AGE-RELATED, 9; ARMD9	C3
612925	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5; AHUS5	C3
613779	COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE; C3D	C3
609536	COMPLEMENT COMPONENT 5 DEFICIENCY; C5D	C5
105550	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS; FTDALS	C9orf72
601005	TIMOTHY SYNDROME; TS	CACNA1C
611875	BRUGADA SYNDROME 3; BRGDA3	CACNA1C
170400	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1	CACNA1S
188580	THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1; TTPP1	CACNA1S
601887	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5	CACNA1S
611876	BRUGADA SYNDROME 4; BRGDA4	CACNB2
253600	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A	CAPN3
212050	CANDIDIASIS, FAMILIAL, 2; CANDF2	CARD9
211980	LUNG CANCER	CASP8
607271	CASPASE 8 DEFICIENCY	CASP8
611938	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2	CASQ2
145980	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1	CASR
146200	HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH	CASR
239200	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY; NSHPT	CASR
601199	CALCIUM-SENSING RECEPTOR; CASR	CASR
612899	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8; EIG8	CASR
612526	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3	CAV1
613563	NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC	CBL
236200	HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY	CBS
607948	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO	CCL2
254500	MYELOMA, MULTIPLE	CCND1
609423	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO	CCR2
609423	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO	CCR5
610379	WEST NILE VIRUS, SUSCEPTIBILITY TO	CCR5
612522	DIABETES MELLITUS, INSULIN-DEPENDENT, 22; IDDM22	CCR5
613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3	CD19
610163	IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA	CD247
607832	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3	CD2AP
248310	PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL	CD36
608404	PLATELET GLYCOPROTEIN IV DEFICIENCY	CD36
610938	CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7; CHDS7	CD36
611162	MALARIA, SUSCEPTIBILITY TO	CD36
606843	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; HIGM3	CD40
609027	INDIAN BLOOD GROUP SYSTEM; IN	CD44
612922	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; AHUS2	CD46
137215	GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC	CDH1
167000	OVARIAN CANCER	CDH1
608089	ENDOMETRIAL CANCER	CDH1
276900	USHER SYNDROME, TYPE I; USH1	CDH23
601067	USHER SYNDROME, TYPE ID; USH1D	CDH23
601386	DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12	CDH23
612223	STATURE QUANTITATIVE TRAIT LOCUS 11; STQTL11	CDK6
125853	DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM	CDKAL1
610755	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4	CDKN1B
151623	LI-FRAUMENI SYNDROME 1; LFS1	CDKN2A
155601	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2	CDKN2A
155755	MELANOMA-ASTROCYTOMA SYNDROME	CDKN2A
606719	MELANOMA-PANCREATIC CANCER SYNDROME	CDKN2A
614614	DEAFNESS, AUTOSOMAL DOMINANT 4B; DFNA4B	CEACAM16
138972	CCAAT/ENHANCER-BINDING PROTEIN, GAMMA; CEBPG	CEBPG
143470	HYPERALPHALIPOPROTEINEMIA 1; HALP1	CETP
603075	MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1	CFB
612924	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4; AHUS4	CFB
126700	BASAL LAMINAR DRUSEN	CFH
235400	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1	CFH
609814	COMPLEMENT FACTOR H DEFICIENCY; CFHD	CFH
610698	MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4	CFH
614809	CFHR5 DEFICIENCY	CFHR5
610984	COMPLEMENT FACTOR I DEFICIENCY; CFID	CFI
612923	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3; AHUS3	CFI
214800	CHARGE SYNDROME	CHD7
608765	SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3; IS3	CHD7
612370	HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5	CHD7
114480	BREAST CANCER	CHEK2
176807	PROSTATE CANCER	CHEK2
259500	OSTEOGENIC SARCOMA	CHEK2
604373	CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2	CHEK2
609265	LI-FRAUMENI SYNDROME 2; LFS2	CHEK2
611960	ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7; ASRT7	CHI3L1
100100	ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND	CHRM3
612052	SMOKING AS A QUANTITATIVE TRAIT LOCUS 3; SQTL3	CHRNA3
600513	EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1	CHRNA4
612052	SMOKING AS A QUANTITATIVE TRAIT LOCUS 3; SQTL3	CHRNA5
253290	MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS	CHRNG
265000	MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS	CHRNG
605282	TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME; TPBS	CHSY1
613630	COCOON SYNDROME	CHUK
209920	BARE LYMPHOCYTE SYNDROME, TYPE II	CIITA
614431	VENTRICULAR SEPTAL DEFECT 2; VSD2	CITED2
614433	ATRIAL SEPTAL DEFECT 8; ASD8	CITED2
614035	DEAFNESS, AUTOSOMAL RECESSIVE 29; DFNB29	CLDN14
204200	CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3	CLN3
613882	HYPOMAGNESEMIA 6, RENAL; HOMG6	CNNM2
612540	MYOPATHY, CONGENITAL, COMPTON-NORTH	CNTN1
156500	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS	COL10A1
154780	MARSHALL SYNDROME; MRSHS	COL11A1
228520	FIBROCHONDROGENESIS 1; FBCG1	COL11A1
604841	STICKLER SYNDROME, TYPE II; STL2	COL11A1
184840	STICKLER SYNDROME, TYPE III; STL3	COL11A2
215150	OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED	COL11A2
277610	WEISSENBACHER-ZWEYMULLER SYNDROME; WZS	COL11A2
601868	DEAFNESS, AUTOSOMAL DOMINANT 13; DFNA13	COL11A2
609706	DEAFNESS, AUTOSOMAL RECESSIVE 53; DFNB53	COL11A2
614524	FIBROCHONDROGENESIS 2; FBCG2	COL11A2
226650	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE	COL17A1
175780	PORENCEPHALY 1; POREN1	COL4A1
607595	BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE	COL4A1
611773	ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS;	COL4A1
614483	PORENCEPHALY 2; POREN2	COL4A2
614519	HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH	COL4A2
104200	ALPORT SYNDROME, AUTOSOMAL DOMINANT	COL4A3
141200	HEMATURIA, BENIGN FAMILIAL; BFH	COL4A3
203780	ALPORT SYNDROME, AUTOSOMAL RECESSIVE	COL4A3
141200	HEMATURIA, BENIGN FAMILIAL; BFH	COL4A4
203780	ALPORT SYNDROME, AUTOSOMAL RECESSIVE	COL4A4
130000	EHLERS-DANLOS SYNDROME, TYPE I	COL5A1
130010	EHLERS-DANLOS SYNDROME, TYPE II	COL5A1
136800	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; FECD1	COL8A2
609140	CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2; PPCD2	COL8A2
212070	CARBOXYPEPTIDASE N DEFICIENCY	CPN1
237300	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO	CPS1
255120	CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY	CPT1A
607486	KNOPS BLOOD GROUP SYSTEM; KN	CR1
611162	MALARIA, SUSCEPTIBILITY TO	CR1
172870	PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY; PPCRA	CRB1
268000	RETINITIS PIGMENTOSA; RP	CRB1
600105	RETINITIS PIGMENTOSA 12; RP12	CRB1
613835	LEBER CONGENITAL AMAUROSIS 8; LCA8	CRB1
105150	CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED	CST3
611953	MACULAR DEGENERATION, AGE-RELATED, 11; ARMD11	CST3
607936	EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF	CSTA
612199	CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS; CRMCC	CTC1
109100	AUTOIMMUNE DISEASE	CTLA4
152700	SYSTEMIC LUPUS ERYTHEMATOSUS; SLE	CTLA4
601388	DIABETES MELLITUS, INSULIN-DEPENDENT, 12; IDDM12	CTLA4
609755	CELIAC DISEASE, SUSCEPTIBILITY TO, 3; CELIAC3	CTLA4
610424	HEPATITIS B VIRUS, SUSCEPTIBILITY TO	CTLA4
114500	COLORECTAL CANCER; CRC	CTNNB1
132600	PILOMATRIXOMA	CTNNB1
155255	MEDULLOBLASTOMA; MDB	CTNNB1
156240	MESOTHELIOMA, MALIGNANT; MESOM	CTNNB1
167000	OVARIAN CANCER	CTNNB1
181030	SALIVARY GLAND ADENOMA, PLEOMORPHIC	CTNNB1
265800	PYCNODYSOSTOSIS	CTSK
261100	MEGALOBLASTIC ANEMIA 1	CUBN
132700	CYLINDROMATOSIS, FAMILIAL	CYLD
601606	TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1	CYLD
605041	BROOKE-SPIEGLER SYNDROME; BRSS	CYLD
202110	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY	CYP17A1
139300	AROMATASE EXCESS SYNDROME; AEXS	CYP19A1
613546	AROMATASE DEFICIENCY	CYP19A1
124060	CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2; CYP1A2	CYP1A2
143880	HYPERCALCEMIA, INFANTILE	CYP24A1
264700	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A; VDDR1A	CYP27B1
122720	CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 6; CYP2A6	CYP2A6
609535	DRUG METABOLISM, POOR, CYP2C19-RELATED	CYP2C19
600081	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B	CYP2R1
210370	BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY	CYP4V2
608687	SPINOCEREBELLAR ATAXIA 20; SCA20	DAGLA
110700	BLOOD GROUP, DUFFY SYSTEM; FY	DARC
611162	MALARIA, SUSCEPTIBILITY TO	DARC
611862	WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1; WBCQ1	DARC
223360	DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL	DBH
300240	HOYERAAL-HREIDARSSON SYNDROME; HHS	DCLRE1B
608643	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	DDC
607084	DEAFNESS, AUTOSOMAL RECESSIVE 31; DFNB31	DFNB31
611383	USHER SYNDROME, TYPE IID; USH2D	DFNB31
251880	MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3	DGUOK
270400	SMITH-LEMLI-OPITZ SYNDROME; SLOS	DHCR7
233420	46,XY SEX REVERSAL 7; SRXY7	DHH
607080	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY	DHH
138800	GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS;	DICER1
601200	PLEUROPULMONARY BLASTOMA; PPB	DICER1
147892	DEIODINASE, IODOTHYRONINE, TYPE I; DIO1	DIO1
267000	PERLMAN SYNDROME; PRLMNS	DIS3L2
181500	SCHIZOPHRENIA; SCZD	DISC1
604906	SCHIZOPHRENIA 9; SCZD9	DISC1
248600	MAPLE SYRUP URINE DISEASE; MSUD	DLD
154230	46,XY SEX REVERSAL 4; SRXY4	DMRT1
273300	TESTICULAR GERM CELL TUMOR; TGCT	DMRT1
244400	CILIARY DYSKINESIA, PRIMARY, 1; CILD1	DNAH11
611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7	DNAH11
242860	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	DNMT3B
614219	ADAMS-OLIVER SYNDROME 2; AOS2	DOCK6
243700	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE	DOCK8
614113	MENTAL RETARDATION, AUTOSOMAL DOMINANT 2; MRD2	DOCK8
612937	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io; CDG1O	DPM3
274270	DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY	DPYD
223800	DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC	DYM
607326	SMITH-MCCORT DYSPLASIA; SMC	DYM
305100	ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED	EDA
313500	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1	EDA
209880	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS	EDN3
613265	WAARDENBURG SYNDROME, TYPE 4B; WS4B	EDN3
613712	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4; HSCR4	EDN3
142623	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1	EDNRB
277580	WAARDENBURG SYNDROME, TYPE 4A; WS4A	EDNRB
600155	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2	EDNRB
600501	ABCD SYNDROME; ABCDS	EDNRB
126600	DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD	EFEMP1
145900	HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS	EGR2
605253	NEUROPATHY, CONGENITAL HYPOMYELINATING OR AMYELINATING, AUTOSOMAL	EGR2
607678	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D	EGR2
611868	PROSTATE CANCER, HEREDITARY, 12; HPC12	EHBP1
226980	EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS	EIF2AK3
613684	RUBINSTEIN-TAYBI SYNDROME 2; RSTS2	EP300
611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4	EPAS1
116600	CATARACT, POSTERIOR POLAR, 1; CTPP1	EPHA2
613020	CATARACT, AGE-RELATED CORTICAL, 2; ARCC2	EPHA2
114500	COLORECTAL CANCER; CRC	EPHA3
612623	MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2; MVCD2	EPO
607598	LETHAL CONGENITAL CONTRACTURE SYNDROME 2; LCCS2	ERBB3
188550	THYROID CARCINOMA, PAPILLARY	ERC1
612219	EWING SARCOMA; ES	ERG
231680	MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD	ETFDH
131440	MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	ETV6
601626	LEUKEMIA, ACUTE MYELOID; AML	ETV6
227600	FACTOR X DEFICIENCY	F10
612416	FACTOR XI DEFICIENCY	F11
234000	FACTOR XII DEFICIENCY	F12
610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3	F12
613225	FACTOR XIII, A SUBUNIT, DEFICIENCY OF	F13A1
613235	FACTOR XIII, B SUBUNIT, DEFICIENCY OF	F13B
188055	THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2	F5
227400	FACTOR V DEFICIENCY	F5
600880	BUDD-CHIARI SYNDROME; BDCHS	F5
601367	STROKE, ISCHEMIC	F5
614389	PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1; RPRGL1	F5
227500	FACTOR VII DEFICIENCY	F7
134500	FACTOR VIII DEFICIENCY	F8
306700	HEMOPHILIA A; HEMA	F8
614083	FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL	FANCL
601859	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS	FASLG
608180	SYNPOLYDACTYLY 2; SPD2	FBLN1
219100	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA; ARCL1A	FBLN5
608895	MACULAR DEGENERATION, AGE-RELATED, 3; ARMD3	FBLN5
614434	CUTIS LAXA, AUTOSOMAL DOMINANT 2; ADCL2	FBLN5
102370	ACROMICRIC DYSPLASIA; ACMICD	FBN1
129600	ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1	FBN1
154700	MARFAN SYNDROME; MFS	FBN1
182212	SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS	FBN1
184900	STIFF SKIN SYNDROME; SSKS	FBN1
604308	MASS SYNDROME	FBN1
608328	WEILL-MARCHESANI SYNDROME 2; WMS2	FBN1
614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2	FBN1
260300	PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15	FBXO7
152700	SYSTEMIC LUPUS ERYTHEMATOSUS; SLE	FCGR2B
611162	MALARIA, SUSCEPTIBILITY TO	FCGR2B
180300	RHEUMATOID ARTHRITIS; RA	FCRL3
105200	AMYLOIDOSIS, FAMILIAL VISCERAL	FGA
134820	FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA	FGA
202400	AFIBRINOGENEMIA, CONGENITAL	FGA
202400	AFIBRINOGENEMIA, CONGENITAL	FGB
149730	LACRIMOAURICULODENTODIGITAL SYNDROME; LADD	FGF10
180920	APLASIA OF LACRIMAL AND SALIVARY GLANDS; ALSG	FGF10
193100	HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR	FGF23
211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC	FGF23
610706	DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA	FGF3
612961	MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3	FGF9
101200	APERT SYNDROME	FGFR2
101600	PFEIFFER SYNDROME	FGFR2
123150	JACKSON-WEISS SYNDROME; JWS	FGFR2
123500	CROUZON SYNDROME	FGFR2
123790	BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS	FGFR2
149730	LACRIMOAURICULODENTODIGITAL SYNDROME; LADD	FGFR2
207410	ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS;	FGFR2
609579	SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	FGFR2
614592	BENT BONE DYSPLASIA SYNDROME; BBDS	FGFR2
100800	ACHONDROPLASIA; ACH	FGFR3
109800	BLADDER CANCER	FGFR3
146000	HYPOCHONDROPLASIA; HCH	FGFR3
149730	LACRIMOAURICULODENTODIGITAL SYNDROME; LADD	FGFR3
162900	NEVUS, EPIDERMAL	FGFR3
182000	KERATOSIS, SEBORRHEIC	FGFR3
187600	THANATOPHORIC DYSPLASIA, TYPE I; TD1	FGFR3
187601	THANATOPHORIC DYSPLASIA, TYPE II; TD2	FGFR3
254500	MYELOMA, MULTIPLE	FGFR3
273300	TESTICULAR GERM CELL TUMOR; TGCT	FGFR3
602849	MUENKE SYNDROME; MNKES	FGFR3
603956	CERVICAL CANCER	FGFR3
610474	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	FGFR3
612247	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS; CAN	FGFR3
202400	AFIBRINOGENEMIA, CONGENITAL	FGG
253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE	FKTN
611588	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4; MDDGC4	FKTN
611615	CARDIOMYOPATHY, DILATED, 1X; CMD1X	FKTN
613152	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION),	FKTN
146700	ICHTHYOSIS VULGARIS	FLG
605803	DERMATITIS, ATOPIC, 2; ATOD2	FLG
612219	EWING SARCOMA; ES	FLI1
300623	FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS	FMR1
300624	FRAGILE X MENTAL RETARDATION SYNDROME	FMR1
311360	PREMATURE OVARIAN FAILURE 1; POF1	FMR1
241850	HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE	FOXE1
265380	ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS;	FOXF1
110100	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES	FOXL2
608996	PREMATURE OVARIAN FAILURE 3; POF3	FOXL2
268220	RHABDOMYOSARCOMA 2; RMS2	FOXO1
233300	OVARIAN DYSGENESIS 1; ODG1	FSHR
608115	OVARIAN HYPERSTIMULATION SYNDROME	FSHR
134770	FERRITIN HEAVY CHAIN 1; FTH1	FTH1
612938	GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLY	FTO
211100	FUCOSYLTRANSFERASE 1; FUT1	FUT1
182100	FUCOSYLTRANSFERASE 2; FUT2	FUT2
612542	VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; B12QTL1	FUT2
111100	FUCOSYLTRANSFERASE 3; FUT3	FUT3
613852	FUCOSYLTRANSFERASE 6 DEFICIENCY	FUT6
612108	FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 1; FGQTL1	G6PC2
305900	GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD	G6PD
245200	KRABBE DISEASE	GALC
211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC	GALNT3
614038	LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA	GATA2
614172	DENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE	GATA2
614286	MYELODYSPLASTIC SYNDROME; MDS	GATA2
187500	TETRALOGY OF FALLOT; TOF	GATA6
217095	CONOTRUNCAL HEART MALFORMATIONS; CTHM	GATA6
600001	PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; PACHD	GATA6
614474	ATRIOVENTRICULAR SEPTAL DEFECT 5; AVSD5	GATA6
614475	ATRIAL SEPTAL DEFECT 9; ASD9	GATA6
614672	CARDIOMYOPATHY, DILATED, 2B; CMD2B	GATAD1
612718	ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY	GATM
168600	PARKINSON DISEASE, LATE-ONSET; PD	GBA
230800	GAUCHER DISEASE, TYPE I	GBA
230900	GAUCHER DISEASE, TYPE II	GBA
231000	GAUCHER DISEASE, TYPE III	GBA
231005	GAUCHER DISEASE, TYPE IIIC	GBA
608013	GAUCHER DISEASE, PERINATAL LETHAL	GBA
139200	GROUP-SPECIFIC COMPONENT; GC	GC
231670	GLUTARIC ACIDEMIA I	GCDH
125851	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2	GCK
602485	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3	GCK
606391	MATURITY-ONSET DIABETES OF THE YOUNG; MODY	GCK
613463	FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5; FGQTL5	GCKR
112500	BRACHYDACTYLY, TYPE A1; BDA1	GDF5
112600	BRACHYDACTYLY, TYPE A2; BDA2	GDF5
113100	BRACHYDACTYLY, TYPE C; BDC	GDF5
185800	SYMPHALANGISM, PROXIMAL; SYM1	GDF5
200700	CHONDRODYSPLASIA, GREBE TYPE	GDF5
201250	ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE	GDF5
228900	FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY	GDF5
610017	MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2	GDF5
612400	OSTEOARTHRITIS SUSCEPTIBILITY 5; OS5	GDF5
277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1; VKCFD1	GGCX
610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR	GGCX
231950	GLUTATHIONURIA	GGT1
604271	SHORT STATURE, IDIOPATHIC, AUTOSOMAL	GHSR
164200	OCULODENTODIGITAL DYSPLASIA; ODDD	GJA1
186100	SYNDACTYLY, TYPE III	GJA1
234100	HALLERMANN-STREIFF SYNDROME; HSS	GJA1
241550	HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1	GJA1
257850	OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE	GJA1
600309	ATRIOVENTRICULAR SEPTAL DEFECT 3; AVSD3	GJA1
230500	GM1-GANGLIOSIDOSIS, TYPE I	GLB1
230600	GM1-GANGLIOSIDOSIS, TYPE II	GLB1
230650	GM1-GANGLIOSIDOSIS, TYPE III	GLB1
253010	MUCOPOLYSACCHARIDOSIS TYPE IVB	GLB1
610829	HOLOPROSENCEPHALY 9; HPE9	GLI2
610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM	GLIS3
102200	PITUITARY ADENOMA, GROWTH HORMONE-SECRETING	GNAS
103580	PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A	GNAS
114500	COLORECTAL CANCER; CRC	GNAS
139320	GNAS COMPLEX LOCUS; GNAS	GNAS
166350	OSSEOUS HETEROPLASIA, PROGRESSIVE; POH	GNAS
174800	MCCUNE-ALBRIGHT SYNDROME; MAS	GNAS
219080	ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH	GNAS
603233	PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B	GNAS
612462	PSEUDOHYPOPARATHYROIDISM, TYPE IC; PHP1C	GNAS
614018	EPILEPSY, PROGRESSIVE MYOCLONIC 6; EPM6	GOSR2
614419	ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS	GOT1
153670	BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2	GP1BA
177820	PSEUDO-VON WILLEBRAND DISEASE; VWDP	GP1BA
231200	BERNARD-SOULIER SYNDROME; BSS	GP1BA
258660	NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO	GP1BA
614201	BLEEDING DISORDER, PLATELET-TYPE, 11; BDPLT11	GP6
258315	OMODYSPLASIA 1; OMOD1	GPC6
606255	STATURE AS A QUANTITATIVE TRAIT	GPR126
614565	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E; CSNB1E	GPR179
604352	FEBRILE SEIZURES, FAMILIAL, 4; FEB4	GPR98
605472	USHER SYNDROME, TYPE IIC; USH2C	GPR98
601228	POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1	GREM1
613971	EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS; EPND	GRIN2A
613970	MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; MRD6	GRIN2B
607485	FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED	GRN
614706	CEROID LIPOFUSCINOSIS, NEURONAL, 11; CLN11	GRN
231900	GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA	GSS
266130	GLUTATHIONE SYNTHETASE DEFICIENCY; GSSD	GSS
140700	HEINZ BODY ANEMIAS	HBB
141900	HEMOGLOBIN--BETA LOCUS; HBB	HBB
603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE	HBB
603903	SICKLE CELL ANEMIA	HBB
613985	BETA-THALASSEMIA	HBB
613977	CYANOSIS, TRANSIENT NEONATAL; TNCY	HBG2
163800	SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT; SSS2	HCN4
613123	BRUGADA SYNDROME 8; BRGDA8	HCN4
600430	BRACHYDACTYLY-MENTAL RETARDATION SYNDROME; BDMR	HDAC4
227220	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1	HERC2
176200	PORPHYRIA VARIEGATA	HFE
235200	HEMOCHROMATOSIS; HFE	HFE
612635	MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7; MVCD7	HFE
614193	TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; TFQTL2	HFE
612226	STATURE QUANTITATIVE TRAIT LOCUS 13; STQTL13	HHIP
235700	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY	HK1
608579	SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO	HLA-A
106300	SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1	HLA-B
608579	SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO	HLA-B
177900	PSORIASIS SUSCEPTIBILITY 1; PSORS1	HLA-C
610424	HEPATITIS B VIRUS, SUSCEPTIBILITY TO	HLA-DRA
181000	SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1	HLA-DRB1
609532	HEPATITIS C VIRUS, SUSCEPTIBILITY TO	HLA-DRB1
150699	LEIOMYOMA, UTERINE; UL	HMGA2
611547	STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9	HMGA2
142910	3-@HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE; HMGCR	HMGCR
142330	HEPATIC ADENOMAS, FAMILIAL	HNF1A
600496	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3	HNF1A
606391	MATURITY-ONSET DIABETES OF THE YOUNG; MODY	HNF1A
612520	DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20	HNF1A
125853	DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM	HNF1B
137920	RENAL CYSTS AND DIABETES SYNDROME	HNF1B
611955	PROSTATE CANCER, HEREDITARY, 11; HPC11	HNF1B
125850	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1	HNF4A
606391	MATURITY-ONSET DIABETES OF THE YOUNG; MODY	HNF4A
614081	ANHAPTOGLOBINEMIA; AHP	HP
140350	HAWKINSINURIA	HPD
276710	TYROSINEMIA, TYPE III	HPD
614074	HERMANSKY-PUDLAK SYNDROME 5; HPS5	HPS5
613116	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY; THPH11	HRG
614674	PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT	HTR1A
600142	CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS	HTRA1
610149	MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7	HTRA1
611162	MALARIA, SUSCEPTIBILITY TO	ICAM1
607594	IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1	ICOS
607014	HURLER SYNDROME	IDUA
607015	HURLER-SCHEIE SYNDROME	IDUA
607016	SCHEIE SYNDROME	IDUA
610155	DIABETES MELLITUS, INSULIN-DEPENDENT, 19; IDDM19	IFIH1
610424	HEPATITIS B VIRUS, SUSCEPTIBILITY TO	IFNAR2
609135	APLASTIC ANEMIA	IFNG
209950	ATYPICAL MYCOBACTERIOSIS, FAMILIAL	IFNGR2
608747	INSULIN-LIKE GROWTH FACTOR I DEFICIENCY	IGF1
270450	INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO	IGF1R
180860	SILVER-RUSSELL SYNDROME; SRS	IGF2
601489	INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN, ACID-LABILE SUBUNIT; IGFALS	IGFALS
614224	RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS;	IGFBP7
254500	MYELOMA, MULTIPLE	IGHG1
112500	BRACHYDACTYLY, TYPE A1; BDA1	IHH
607778	ACROCAPITOFEMORAL DYSPLASIA; ACFD	IHH
614395	GRAFT-VERSUS-HOST DISEASE, SUSCEPTIBILITY TO; GVHDS	IL10
610424	HEPATITIS B VIRUS, SUSCEPTIBILITY TO	IL10RB
612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25	IL10RB
209950	ATYPICAL MYCOBACTERIOSIS, FAMILIAL	IL12B
612599	PSORIASIS SUSCEPTIBILITY 11; PSORS11	IL12B
607154	ALLERGIC RHINITIS	IL13
613956	CANDIDIASIS, FAMILIAL, 6; CANDF6	IL17F
612628	MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4; MVCD4	IL1RN
612852	OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS;	IL1RN
605606	PSORIASIS SUSCEPTIBILITY 7; PSORS7	IL23R
612261	INFLAMMATORY BOWEL DISEASE 17; IBD17	IL23R
601942	DIABETES MELLITUS, INSULIN-DEPENDENT, 10; IDDM10	IL2RA
606367	INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF	IL2RA
613955	AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2; PLCA2	IL31RA
601367	STROKE, ISCHEMIC	IL4
148000	KAPOSI SARCOMA, SUSCEPTIBILITY TO	IL6
604302	RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE	IL6
614689	SOLUBLE INTERLEUKIN-6 RECEPTOR, SERUM LEVEL OF, QUANTITATIVE TRAIT	IL6R
614752	INTERLEUKIN 6, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS	IL6R
608971	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,	IL7R
612595	MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 3; MS3	IL7R
213300	JOUBERT SYNDROME; JBTS	INPP5E
610156	MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS	INPP5E
125852	DIABETES MELLITUS, INSULIN-DEPENDENT, 2	INS
176730	INSULIN; INS	INS
606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM	INS
613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10	INS
125853	DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM	INSR
246200	DONOHUE SYNDROME	INSR
262190	PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC	INSR
609968	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5	INSR
610549	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	INSR
607676	IRAK4 DEFICIENCY	IRAK4
610799	INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1	IRAK4
613659	GASTRIC CANCER	IRF1
254500	MYELOMA, MULTIPLE	IRF4
180300	RHEUMATOID ARTHRITIS; RA	IRF5
612245	INFLAMMATORY BOWEL DISEASE 14; IBD14	IRF5
612251	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10; SLEB10	IRF5
119300	VAN DER WOUDE SYNDROME 1; VWS1	IRF6
119500	POPLITEAL PTERYGIUM SYNDROME; PPS	IRF6
608864	OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6	IRF6
612278	INFLAMMATORY BOWEL DISEASE 19; IBD19	IRGM
125853	DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM	IRS1
273800	GLANZMANN THROMBASTHENIA; GT	ITGA2B
226730	EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA	ITGA6
609939	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6; SLEB6	ITGAM
613850	INOSINE TRIPHOSPHATASE DEFICIENCY	ITPA
611775	KAWASAKI DISEASE	ITPKC
243500	ISOVALERIC ACIDEMIA; IVA	IVD
118450	ALAGILLE SYNDROME 1; ALGS1	JAG1
187500	TETRALOGY OF FALLOT; TOF	JAG1
601920	JAGGED 1; JAG1	JAG1
254450	MYELOFIBROSIS	JAK2
263300	POLYCYTHEMIA VERA	JAK2
600880	BUDD-CHIARI SYNDROME; BDCHS	JAK2
601626	LEUKEMIA, ACUTE MYELOID; AML	JAK2
614521	THROMBOCYTHEMIA 3; THCYT3	JAK2
608901	CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5	KALRN
612347	JERVELL AND LANGE-NIELSEN SYNDROME 2; JLNS2	KCNE1
613695	LONG QT SYNDROME 5; LQT5	KCNE1
611493	ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4	KCNE2
613693	LONG QT SYNDROME 6; LQT6	KCNE2
609620	SHORT QT SYNDROME 1; SQT1	KCNH2
613688	LONG QT SYNDROME 2; LQT2	KCNH2
601820	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2	KCNJ11
606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM	KCNJ11
610582	DIABETES MELLITUS, TRANSIENT NEONATAL, 3	KCNJ11
170390	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS	KCNJ2
609622	SHORT QT SYNDROME 3; SQT3	KCNJ2
613980	ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9	KCNJ2
609446	GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA; GEPD	KCNMA1
192500	LONG QT SYNDROME 1; LQT1	KCNQ1
220400	JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1	KCNQ1
607554	ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3	KCNQ1
609621	SHORT QT SYNDROME 2; SQT2	KCNQ1
610356	RETINAL CONE DYSTROPHY 3B; RCD3B	KCNV2
118210	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1	KIF1B
171300	PHEOCHROMOCYTOMA	KIF1B
256700	NEUROBLASTOMA, SUSCEPTIBILITY TO	KIF1B
603546	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 2; SEMDJL2	KIF22
172800	PIEBALD TRAIT; PBT	KIT
273300	TESTICULAR GERM CELL TUMOR; TGCT	KIT
601626	LEUKEMIA, ACUTE MYELOID; AML	KIT
606764	GASTROINTESTINAL STROMAL TUMOR; GIST	KIT
145250	HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2; FPH2	KITLG
611664	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 7; SHEP7	KITLG
236000	LYMPHOMA, HODGKIN	KLHDC8B
612423	PREKALLIKREIN DEFICIENCY	KLKB1
228960	HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY	KNG1
215600	CIRRHOSIS, FAMILIAL	KRT8
607855	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A	LAMA2
136120	FISH-EYE DISEASE; FED	LCAT
245900	LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY	LCAT
612933	GLYCOGEN STORAGE DISEASE XI; GSD11	LDHA
143890	HYPERCHOLESTEROLEMIA, FAMILIAL	LDLR
603813	HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH	LDLRAP1
176410	PRECOCIOUS PUBERTY, MALE-LIMITED	LHCGR
238320	LEYDIG CELL HYPOPLASIA, TYPE I	LHCGR
221750	PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3	LHX3
278000	LYSOSOMAL ACID LIPASE DEFICIENCY	LIPA
125853	DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM	LIPC
612797	HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS	LIPC
614025	HEPATIC LIPASE DEFICIENCY	LIPC
601098	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C	LITAF
246650	LIPASE DEFICIENCY, COMBINED	LMF1
177650	EXFOLIATION SYNDROME; XFS	LOXL1
152200	APOLIPOPROTEIN(a); LPA	LPA
238600	HYPERLIPOPROTEINEMIA, TYPE I	LPL
212780	CENANI-LENZ SYNDACTYLY SYNDROME; CLSS	LRP4
614305	SCLEROSTEOSIS 2; SOST2	LRP4
144750	HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS	LRP5
166710	OSTEOPOROSIS	LRP5
259770	OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG	LRP5
601813	EXUDATIVE VITREORETINOPATHY 4; EVR4	LRP5
601884	BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1	LRP5
607634	OSTEOPETROSIS, AUTOSOMAL DOMINANT 1; OPTA1	LRP5
607636	VAN BUCHEM DISEASE, TYPE 2	LRP5
168600	PARKINSON DISEASE, LATE-ONSET; PD	LRRK2
607060	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8	LRRK2
607507	PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO	LTA
610988	LEPROSY, SUSCEPTIBILITY TO, 4; LPRS4	LTA
251750	MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH	LTBP2
613086	GLAUCOMA 3, PRIMARY CONGENITAL, D; GLC3D	LTBP2
614819	WEILL-MARCHESANI SYNDROME 3; WMS3	LTBP2
613097	TOOTH AGENESIS, SELECTIVE, 6; STHAG6	LTBP3
610202	CATARACT, PULVERULENT, JUVENILE-ONSET	MAF
166300	MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO	MAFB
300758	HYPOSPADIAS 2, X-LINKED; HYSP2	MAMLD1
248510	MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB	MANBA
613762	46,XY SEX REVERSAL 6; SRXY6	MAP3K1
606369	EPILEPTIC ENCEPHALOPATHY, LENNOX-GASTAUT TYPE	MAPK10
172700	PICK DISEASE OF BRAIN	MAPT
260540	PARKINSON-DEMENTIA SYNDROME	MAPT
600274	FRONTOTEMPORAL DEMENTIA; FTD	MAPT
601104	SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1	MAPT
610424	HEPATITIS B VIRUS, SUSCEPTIBILITY TO	MBL2
614372	MANNOSE-BINDING PROTEIN DEFICIENCY	MBL2
160900	MYOTONIC DYSTROPHY 1; DM1	MBNL1
266300	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; SHEP2	MC1R
613098	INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC	MC1R
613099	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5	MC1R
601665	OBESITY	MC4R
210200	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	MCCC1
251200	MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1	MCPH1
105830	ANGELMAN SYNDROME; AS	MECP2
300055	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13	MECP2
300260	LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL	MECP2
300496	AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3	MECP2
300673	ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS	MECP2
312750	RETT SYNDROME; RTT	MECP2
613443	MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20	MEF2C
612853	RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 7; RLS7	MEIS1
131100	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1	MEN1
145000	HYPERPARATHYROIDISM 1; HRPT1	MEN1
613862	RETINITIS PIGMENTOSA 38; RP38	MERTK
601152	HEREDITARY MOTOR AND SENSORY NEUROPATHY VI	MFN2
609260	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2	MFN2
177900	PSORIASIS SUSCEPTIBILITY 1; PSORS1	MICA
607507	PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO	MICA
180300	RHEUMATOID ARTHRITIS; RA	MICB
604302	RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE	MIF
114500	COLORECTAL CANCER; CRC	MLH3
614385	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7; HNPCC7	MLH3
609227	GRISCELLI SYNDROME, TYPE 3; GS3	MLPH
251110	METHYLMALONIC ACIDURIA, cblB TYPE	MMAB
603932	INTERVERTEBRAL DISC DISEASE; IDD	MMP9
613073	METAPHYSEAL ANADYSPLASIA 2; MANDP2	MMP9
614250	NARCOLEPSY 7; NRCLP7	MOG
609180	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F	MPDU1
611928	PROSTATE CANCER, HEREDITARY, 13; HPC13	MSMB
613718	DEAFNESS, AUTOSOMAL RECESSIVE 74; DFNB74	MSRB3
112250	DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA;	MTAP
236250	HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE	MTHFR
601367	STROKE, ISCHEMIC	MTHFR
601634	NEURAL TUBE DEFECTS, FOLATE-SENSITIVE	MTHFR
603174	HOMOCYSTEINEMIA	MTHFR
260920	HYPER-IgD SYNDROME; HIDS	MVK
610377	MEVALONIC ACIDURIA; MEVA	MVK
113970	BURKITT LYMPHOMA; BL	MYC
164280	FEINGOLD SYNDROME 1; FGLDS1	MYCN
613251	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14; CMH14	MYH6
613252	CARDIOMYOPATHY, DILATED, 1EE; CMD1EE	MYH6
614089	ATRIAL SEPTAL DEFECT 3; ASD3	MYH6
614090	SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO; SSS3	MYH6
160500	MYOPATHY, DISTAL, 1; MPD1	MYH7
181430	SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM	MYH7
192600	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1	MYH7
608358	MYOPATHY, MYOSIN STORAGE	MYH7
613426	CARDIOMYOPATHY, DILATED, 1S; CMD1S	MYH7
153640	FECHTNER SYNDROME; FTNS	MYH9
153650	EPSTEIN SYNDROME	MYH9
155100	MAY-HEGGLIN ANOMALY; MHA	MYH9
600208	MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS	MYH9
603622	DEAFNESS, AUTOSOMAL DOMINANT 17; DFNA17	MYH9
605249	SEBASTIAN SYNDROME; SBS	MYH9
608758	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10	MYL2
614131	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6; FSGS6	MYO1E
606346	DEAFNESS, AUTOSOMAL DOMINANT 22; DFNA22	MYO6
607821	DEAFNESS, AUTOSOMAL RECESSIVE 37; DFNB37	MYO6
609753	CELIAC DISEASE, SUSCEPTIBILITY TO, 4; CELIAC4	MYO9B
243400	ACETYLATION, SLOW	NAT2
609148	MALARIA, MILD, SUSCEPTIBILITY TO	NCR3
612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL	NFKBIA
180300	RHEUMATOID ARTHRITIS; RA	NFKBIL1
118700	CHOREA, BENIGN HEREDITARY; BHC	NKX2-1
610978	CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS	NKX2-1
108900	ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION	NKX2-5
187500	TETRALOGY OF FALLOT; TOF	NKX2-5
217095	CONOTRUNCAL HEART MALFORMATIONS; CTHM	NKX2-5
225250	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5	NKX2-5
614432	VENTRICULAR SEPTAL DEFECT 3; VSD3	NKX2-5
614435	HYPOPLASTIC LEFT HEART SYNDROME 2; HLHS2	NKX2-5
120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1	NLRP3
191900	MUCKLE-WELLS SYNDROME; MWS	NLRP3
607115	CINCA SYNDROME; CINCA	NLRP3
231090	HYDATIDIFORM MOLE, RECURRENT, 1; HYDM1	NLRP7
186580	BLAU SYNDROME	NOD2
266600	INFLAMMATORY BOWEL DISEASE 1; IBD1	NOD2
609464	SARCOIDOSIS, EARLY-ONSET	NOD2
184460	STAPES ANKYLOSIS WITH BROAD THUMB AND TOES	NOG
185800	SYMPHALANGISM, PROXIMAL; SYM1	NOG
186500	MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1	NOG
186570	TARSAL-CARPAL COALITION SYNDROME; TCC	NOG
611377	BRACHYDACTYLY, TYPE B2; BDB2	NOG
610141	QT INTERVAL, VARIATION IN	NOS1AP
611162	MALARIA, SUSCEPTIBILITY TO	NOS2
102500	HAJDU-CHENEY SYNDROME; HJCYS	NOTCH2
610205	ALAGILLE SYNDROME 2; ALGS2	NOTCH2
608516	MAJOR DEPRESSIVE DISORDER; MDD	NPAS2
608010	NPC1-LIKE 1; NPC1L1	NPC1L1
208540	RENAL-HEPATIC-PANCREATIC DYSPLASIA; RHPD	NPHP3
267010	MECKEL SYNDROME, TYPE 7; MKS7	NPHP3
604387	NEPHRONOPHTHISIS 3; NPHP3	NPHP3
606966	NEPHRONOPHTHISIS 4; NPHP4	NPHP4
606996	SENIOR-LOKEN SYNDROME 4; SLSN4	NPHP4
612201	ATRIAL FIBRILLATION, FAMILIAL, 6; ATFB6	NPPA
177735	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT; PHA1A	NR3C2
605115	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION	NR3C2
117550	SOTOS SYNDROME 1; SOTOS1	NSD1
130650	BECKWITH-WIEDEMANN SYNDROME; BWS	NSD1
277590	WEAVER SYNDROME 1; WVS1	NSD1
211800	CALCIFICATION OF JOINTS AND ARTERIES; CALJA	NT5E
203200	ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2	OCA2
227220	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1	OCA2
137760	GLAUCOMA, PRIMARY OPEN ANGLE; POAG	OPTN
606657	GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO	OPTN
613435	AMYOTROPHIC LATERAL SCLEROSIS 12; ALS12	OPTN
600807	ASTHMA, SUSCEPTIBILITY TO	ORMDL3
180300	RHEUMATOID ARTHRITIS; RA	PADI4
168600	PARKINSON DISEASE, LATE-ONSET; PD	PARK2
600116	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2	PARK2
168600	PARKINSON DISEASE, LATE-ONSET; PD	PARK7
606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7	PARK7
122880	CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS	PAX3
148820	WAARDENBURG SYNDROME, TYPE 3; WS3	PAX3
193500	WAARDENBURG SYNDROME, TYPE 1; WS1	PAX3
268220	RHABDOMYOSARCOMA 2; RMS2	PAX3
125853	DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM	PAX4
222100	DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM	PAX4
612225	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9	PAX4
612227	DIABETES MELLITUS, KETOSIS-PRONE; KPD	PAX4
268220	RHABDOMYOSARCOMA 2; RMS2	PAX7
218700	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2	PAX8
144700	RENAL CELL CARCINOMA, NONPAPILLARY; RCC	PBRM1
606054	PROPIONIC ACIDEMIA	PCCA
606054	PROPIONIC ACIDEMIA	PCCB
276900	USHER SYNDROME, TYPE I; USH1	PCDH15
601067	USHER SYNDROME, TYPE ID; USH1D	PCDH15
602083	USHER SYNDROME, TYPE IF; USH1F	PCDH15
609533	DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23	PCDH15
600955	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	PCSK1
612362	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12; BMIQ12	PCSK1
603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3	PCSK9
610475	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2	PDE11A
614613	ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS2	PDE4D
609161	STRIATAL DEGENERATION, AUTOSOMAL DOMINANT; ADSD	PDE8B
614190	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3; PPNAD3	PDE8B
606764	GASTROINTESTINAL STROMAL TUMOR; GIST	PDGFRA
607685	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES	PDGFRA
125853	DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM	PDX1
260370	PANCREATIC AGENESIS, CONGENITAL; PAGEN	PDX1
606392	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; MODY4	PDX1
610245	SPINOCEREBELLAR ATAXIA 23; SCA23	PDYN
170100	PROLIDASE DEFICIENCY	PEPD
214100	PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER); PBD1A	PEX1
601539	PEROXISOME BIOGENESIS DISORDER 1B; PBD1B	PEX1
614870	PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER); PBD6A	PEX10
614871	PEROXISOME BIOGENESIS DISORDER 6B; PBD6B	PEX10
614883	PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A	PEX13
614885	PEROXISOME BIOGENESIS DISORDER 11B; PBD11B	PEX13
614866	PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A	PEX2
614867	PEROXISOME BIOGENESIS DISORDER 5B; PBD5B	PEX2
612934	GLYCOGEN STORAGE DISEASE XIV; GSD14	PGM1
307800	HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHR	PHEX
601815	PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY	PHGDH
119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR	PITX1
137600	IRIDOGONIODYSGENESIS, TYPE 2; IRID2	PITX2
180500	AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1	PITX2
180550	RING DERMOID OF CORNEA; RDC	PITX2
604229	PETERS ANOMALY	PITX2
102900	ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES	PKLR
266200	PYRUVATE KINASE DEFICIENCY OF RED CELLS	PKLR
256600	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A	PLA2G6
610217	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B	PLA2G6
612953	PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE; PARK14	PLA2G6
147050	IgE RESPONSIVENESS, ATOPIC; IGER	PLA2G7
600807	ASTHMA, SUSCEPTIBILITY TO	PLA2G7
614278	PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY; PAFAD	PLA2G7
181030	SALIVARY GLAND ADENOMA, PLEOMORPHIC	PLAG1
613722	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12; EIEE12	PLCB1
614669	AURICULOCONDYLAR SYNDROME 2; ARCND2	PLCB4
610725	NEPHROTIC SYNDROME, TYPE 3; NPHS3	PLCE1
611067	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4; DSMA4	PLEKHG5
217090	PLASMINOGEN DEFICIENCY, TYPE I	PLG
609909	CARDIOMYOPATHY, DILATED, 1P; CMD1P	PLN
613874	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18; CMH18	PLN
118220	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A	PMP22
118300	CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS	PMP22
139393	GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS	PMP22
145900	HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS	PMP22
162500	NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP	PMP22
118800	PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1	PNKD
613282	FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1; NAFLD1	PNPLA3
610090	PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY	PNPO
157640	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,	POLG
203700	MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A	POLG
256000	LEIGH SYNDROME; LS	POLG
258450	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,	POLG
607459	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO	POLG
613662	MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B	POLG
601665	OBESITY	POMC
609734	PROOPIOMELANOCORTIN DEFICIENCY	POMC
168820	PARAOXONASE 1; PON1	PON1
612633	MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5; MVCD5	PON1
137800	GLIOMA SUSCEPTIBILITY 1; GLM1	PPARG
601665	OBESITY	PPARG
604367	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3	PPARG
606641	BODY MASS INDEX; BMI	PPARG
609338	CAROTID INTIMAL MEDIAL THICKNESS 1	PPARG
194200	WOLFF-PARKINSON-WHITE SYNDROME	PRKAG2
261740	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	PRKAG2
600858	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6; CMH6	PRKAG2
123400	CREUTZFELDT-JAKOB DISEASE; CJD	PRNP
137440	GERSTMANN-STRAUSSLER DISEASE; GSD	PRNP
245300	KURU, SUSCEPTIBILITY TO	PRNP
600072	FATAL FAMILIAL INSOMNIA; FFI	PRNP
603218	HUNTINGTON DISEASE-LIKE 1; HDL1	PRNP
606688	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	PRNP
176860	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3	PROC
612304	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE; THPH4	PROC
181500	SCHIZOPHRENIA; SCZD	PRODH
239500	HYPERPROLINEMIA, TYPE I; HPI	PRODH
600850	SCHIZOPHRENIA 4; SCZD4	PRODH
202650	AGNATHIA-OTOCEPHALY COMPLEX; AGOTC	PRRX1
167800	PANCREATITIS, HEREDITARY; PCTT	PRSS1
613517	MICROPHTHALMIA, ISOLATED 6; MCOP6	PRSS56
256040	AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME; ALDD	PSMB8
109400	BASAL CELL NEVUS SYNDROME; BCNS	PTCH1
605462	BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1; BCC1	PTCH1
610828	HOLOPROSENCEPHALY 7; HPE7	PTCH1
613382	BRACHYDACTYLY, TYPE E2; BDE2	PTHLH
151100	LEOPARD SYNDROME 1	PTPN11
156250	METACHONDROMATOSIS; METCDS	PTPN11
163950	NOONAN SYNDROME 1; NS1	PTPN11
607785	JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML	PTPN11
152700	SYSTEMIC LUPUS ERYTHEMATOSUS; SLE	PTPN22
614196	NEPHROTIC SYNDROME, TYPE 6; NPHS6	PTPRO
232700	GLYCOGEN STORAGE DISEASE VI	PYGL
232600	GLYCOGEN STORAGE DISEASE V	PYGM
600118	WARBURG MICRO SYNDROME 1; WARBM1	RAB3GAP1
613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD	RAD50
150699	LEIOMYOMA, UTERINE; UL	RAD51B
611553	NOONAN SYNDROME 5; NS5	RAF1
611554	LEOPARD SYNDROME 2	RAF1
152700	SYSTEMIC LUPUS ERYTHEMATOSUS; SLE	RASGRP1
251255	JAWAD SYNDROME; JWDS	RBBP8
606744	SECKEL SYNDROME 2; SCKL2	RBBP8
614814	ADAMS-OLIVER SYNDROME 3; AOS3	RBPJ
136880	FUNDUS ALBIPUNCTATUS	RDH5
257320	LISSENCEPHALY 2; LIS2	RELN
114500	COLORECTAL CANCER; CRC	RET
142623	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1	RET
155240	THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC	RET
162300	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B	RET
171300	PHEOCHROMOCYTOMA	RET
171400	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A	RET
188550	THYROID CARCINOMA, PAPILLARY	RET
191830	RENAL ADYSPLASIA	RET
209880	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS	RET
612015	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N	RFT1
601346	PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA	RFX6
176807	PROSTATE CANCER	RNASEL
601518	PROSTATE CANCER, HEREDITARY, 1; HPC1	RNASEL
612951	LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY	RNASET2
614192	MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME; MMFD	RNF135
612042	RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1; RRQTL1	RNF212
607151	MOYAMOYA DISEASE 2; MYMY2	RNF213
612561	DIAMOND-BLACKFAN ANEMIA 6; DBA6	RPL5
613309	DIAMOND-BLACKFAN ANEMIA 10; DBA10	RPS26
167000	OVARIAN CANCER	RRAS2
601399	PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY	RUNX1
270550	SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS	SACS
258100	OGUCHI DISEASE 1	SAG
613758	RETINITIS PIGMENTOSA 47; RP47	SAG
107480	TOWNES-BROCKS SYNDROME; TBS	SALL1
610762	HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS	SCARB1
254900	EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE;	SCARB2
604233	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1; GEFSP1	SCN1B
612838	BRUGADA SYNDROME 5; BRGDA5	SCN1B
108770	ATRIAL STANDSTILL	SCN5A
113900	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A	SCN5A
272120	SUDDEN INFANT DEATH SYNDROME	SCN5A
601144	BRUGADA SYNDROME 1; BRGDA1	SCN5A
601154	CARDIOMYOPATHY, DILATED, 1E; CMD1E	SCN5A
603829	VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY	SCN5A
603830	LONG QT SYNDROME 3; LQT3	SCN5A
608567	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE; SSS1	SCN5A
614022	ATRIAL FIBRILLATION, FAMILIAL, 10; ATFB10	SCN5A
604377	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE	SCO2
173610	SELECTIN P; SELP	SELP
601367	STROKE, ISCHEMIC	SELP
613490	ALPHA-1-ANTITRYPSIN DEFICIENCY	SERPINA1
613329	PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY	SERPINE1
262850	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	SERPINF2
610504	PRETERM PREMATURE RUPTURE OF THE MEMBRANES; PPROM	SERPINH1
613848	OSTEOGENESIS IMPERFECTA, TYPE X	SERPINH1
269150	SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME	SETBP1
154400	ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1	SF3B4
253700	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C	SGCG
222100	DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM	SH2B3
612011	CELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13	SH2B3
605192	DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23	SIX1
608389	BRANCHIOOTIC SYNDROME 3; BOS3	SIX1
157170	HOLOPROSENCEPHALY 2; HPE2	SIX3
212550	MICROPHTHALMIA, ISOLATED, WITH CATARACT 2; MCOPCT2	SIX6
614602	TRICHOHEPATOENTERIC SYNDROME 2; THES2	SKIV2L
607948	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO	SLC11A1
610446	BURULI ULCER, SUSCEPTIBILITY TO	SLC11A1
263800	GITELMAN SYNDROME	SLC12A3
111000	BLOOD GROUP--KIDD SYSTEM; JK	SLC14A1
612671	URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4	SLC17A3
605583	DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25	SLC17A8
249270	THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA	SLC19A2
220150	HYPOURICEMIA, RENAL, 1; RHUC1	SLC22A12
180300	RHEUMATOID ARTHRITIS; RA	SLC22A4
212140	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP	SLC22A5
210750	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6; SHEP6	SLC24A4
113750	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4; SHEP4	SLC24A5
603471	CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2	SLC25A13
605814	CITRULLINEMIA, TYPE II, NEONATAL-ONSET	SLC25A13
238970	HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME	SLC25A15
602782	HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME	SLC29A3
227810	FANCONI-BICKEL SYNDROME; FBS	SLC2A2
125853	DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM	SLC2A4
612076	HYPOURICEMIA, RENAL, 2; RHUC2	SLC2A9
125853	DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM	SLC30A8
612286	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1; NPHLOP1	SLC34A1
613388	FANCONI RENOTUBULAR SYNDROME 2; FRTS2	SLC34A1
269250	SCHNECKENBECKEN DYSPLASIA	SLC35D1
227240	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5	SLC45A2
606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4	SLC45A2
138500	HYPERGLYCINURIA	SLC6A20
242600	IMINOGLYCINURIA	SLC6A20
220100	CYSTINURIA	SLC7A9
612287	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2; NPHLOP2	SLC9A3R1
237450	HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR	SLCO1B1
237450	HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR	SLCO1B3
114500	COLORECTAL CANCER; CRC	SMAD3
613795	LOEYS-DIETZ SYNDROME, TYPE 3; LDS3	SMAD3
612229	COLORECTAL CANCER, SUSCEPTIBILITY TO, 3; CRCS3	SMAD7
613325	RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2	SMARCA4
614609	MENTAL RETARDATION, AUTOSOMAL DOMINANT 16; MRD16	SMARCA4
162091	SCHWANNOMATOSIS	SMARCB1
609322	RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1	SMARCB1
614608	MENTAL RETARDATION, AUTOSOMAL DOMINANT 15; MRD15	SMARCB1
206920	MICROPHTHALMIA WITH LIMB ANOMALIES	SMOC1
127750	DEMENTIA, LEWY BODY; DLB	SNCA
168600	PARKINSON DISEASE, LATE-ONSET; PD	SNCA
168601	PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1	SNCA
605543	PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4	SNCA
105400	AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1	SOD1
613589	LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS	SORT1
122860	CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD	SOST
239100	HYPEROSTOSIS CORTICALIS GENERALISATA	SOST
269500	SCLEROSTEOSIS 1; SOST1	SOST
613674	VESICOURETERAL REFLUX 3; VUR3	SOX17
114290	CAMPOMELIC DYSPLASIA	SOX9
278850	46,XX SEX REVERSAL 2; SRXX2	SOX9
235550	HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY; VODI	SP110
613849	OSTEOGENESIS IMPERFECTA, TYPE XII; OI12	SP7
611431	LEGIUS SYNDROME	SPRED1
130600	ELLIPTOCYTOSIS 2; EL2	SPTA1
266140	PYROPOIKILOCYTOSIS, HEREDITARY; HPP	SPTA1
270970	SPHEROCYTOSIS, TYPE 3; SPH3	SPTA1
209950	ATYPICAL MYCOBACTERIOSIS, FAMILIAL	STAT1
613796	MYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE	STAT1
614162	CANDIDIASIS, FAMILIAL, 7; CANDF7	STAT1
147060	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT	STAT3
180300	RHEUMATOID ARTHRITIS; RA	STAT4
612253	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11; SLEB11	STAT4
245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY	STAT5B
272300	SULFOCYSTEINURIA	SUOX
610743	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8	SYNE1
612998	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4	SYNE1
612999	EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5	SYNE2
614980	CONGENITAL HEART DISEASE, MULTIPLE TYPES, 2; CHTD2	TAB2
604571	BARE LYMPHOCYTE SYNDROME, TYPE I	TAP1
604571	BARE LYMPHOCYTE SYNDROME, TYPE I	TAP2
612069	AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA;	TARDBP
171200	THIOUREA TASTING	TAS2R38
276600	TYROSINEMIA, TYPE II	TAT
607136	SPINOCEREBELLAR ATAXIA 17; SCA17	TBP
260660	COUSIN SYNDROME	TBX15
611363	ATRIAL SEPTAL DEFECT 4; ASD4	TBX20
181450	ULNAR-MAMMARY SYNDROME; UMS	TBX3
142900	HOLT-ORAM SYNDROME; HOS	TBX5
610954	PITT-HOPKINS SYNDROME; PTHS	TCF4
125853	DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM	TCF7L2
108985	SVEINSSON CHORIORETINAL ATROPHY; SCRA	TEAD1
178500	PULMONARY FIBROSIS, IDIOPATHIC; IPF	TERT
187270	TELOMERASE REVERSE TRANSCRIPTASE; TERT	TERT
609135	APLASTIC ANEMIA	TERT
613989	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2; DKCA2	TERT
614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1;	TERT
263300	POLYCYTHEMIA VERA	TET2
614286	MYELODYSPLASTIC SYNDROME; MDS	TET2
209300	ATRANSFERRINEMIA	TF
169100	CHAR SYNDROME	TFAP2B
604250	HEMOCHROMATOSIS, TYPE 3; HFE3	TFR2
614816	LOEYS-DIETZ SYNDROME, TYPE 4; LDS4	TGFB2
132800	MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO; MSSE	TGFBR1
608967	LOEYS-DIETZ SYNDROME, TYPE 2A; LDS2A	TGFBR1
609192	LOEYS-DIETZ SYNDROME, TYPE 1A; LDS1A	TGFBR1
133239	ESOPHAGEAL CANCER	TGFBR2
610168	LOEYS-DIETZ SYNDROME, TYPE 1B; LDS1B	TGFBR2
610380	LOEYS-DIETZ SYNDROME, TYPE 2B; LDS2B	TGFBR2
614331	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6	TGFBR2
613908	SPINOCEREBELLAR ATAXIA 35; SCA35	TGM6
605407	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	TH
145650	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; PRTH	THRB
188570	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH	THRB
274300	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH	THRB
136900	FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY; SFD	TIMP3
607748	HYPERCHOLANEMIA, FAMILIAL; FHCA	TJP2
614132	CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION	TMCO1
206200	IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA	TMPRSS6
607507	PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO	TNF
610424	HEPATITIS B VIRUS, SUSCEPTIBILITY TO	TNF
611162	MALARIA, SUSCEPTIBILITY TO	TNF
174810	FAMILIAL EXPANSILE OSTEOLYSIS; FEO	TNFRSF11A
602080	PAGET DISEASE OF BONE; PDB	TNFRSF11A
612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7	TNFRSF11A
239000	PAGET DISEASE, JUVENILE	TNFRSF11B
240500	IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2	TNFRSF13B
609529	IMMUNOGLOBULIN A DEFICIENCY 2; IGAD2	TNFRSF13B
142680	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	TNFRSF1A
614810	MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 5; MS5	TNFRSF1A
259710	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2	TNFSF11
152700	SYSTEMIC LUPUS ERYTHEMATOSUS; SLE	TNFSF4
601680	ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B	TNNI2
130020	EHLERS-DANLOS SYNDROME, TYPE III	TNXB
606408	EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY	TNXB
103285	ADULT SYNDROME	TP63
106260	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE	TP63
129400	RAPP-HODGKIN SYNDROME; RHS	TP63
603543	LIMB-MAMMARY SYNDROME; LMS	TP63
604292	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME	TP63
605289	SPLIT-HAND/FOOT MALFORMATION 4; SHFM4	TP63
612267	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10; SHEP10	TPCN2
115196	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3	TPM1
611878	CARDIOMYOPATHY, DILATED, 1Y; CMD1Y	TPM1
614070	PSORIASIS SUSCEPTIBILITY 13; PSORS13	TRAF3IP2
221770	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY;	TREM2
188545	THYROTROPIN-RELEASING HORMONE RECEPTOR; TRHR	TRHR
200600	ACHONDROGENESIS, TYPE IA; ACG1A	TRIP11
602014	HYPOMAGNESEMIA 1, INTESTINAL; HOMG1	TRPM6
150230	TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2	TRPS1
190350	TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1	TRPS1
190351	TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3	TRPS1
612390	PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C	TSEN34
275200	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1	TSHR
603372	THYROID-STIMULATING HORMONE RECEPTOR; TSHR	TSHR
603373	HYPERTHYROIDISM, FAMILIAL GESTATIONAL	TSHR
609152	HYPERTHYROIDISM, NONAUTOIMMUNE	TSHR
105210	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	TTR
115430	CARPAL TUNNEL SYNDROME; CTS1	TTR
145680	DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA	TTR
613112	MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED	TUBB1
610678	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4; COXPD4	TUFM
611521	TYROSINE KINASE 2 DEFICIENCY	TYK2
603041	MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE); MTDPS1	TYMP
103470	ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS	TYR
203100	ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A	TYR
601800	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3	TYR
606952	ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B	TYR
203290	ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3	TYRP1
612271	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11; SHEP11	TYRP1
300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN	UBE2A
143500	GILBERT SYNDROME	UGT1A1
218800	CRIGLER-NAJJAR SYNDROME, TYPE I	UGT1A1
237900	HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL; HBLRTFN	UGT1A1
601816	BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; BILIQTL1	UGT1A1
606785	CRIGLER-NAJJAR SYNDROME, TYPE II	UGT1A1
162000	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1; HNFJ1	UMOD
603860	MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2	UMOD
609886	GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA	UMOD
144250	HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL	USF1
602491	HYPERLIPIDEMIA, COMBINED, 1	USF1
614402	MICROPHTHALMIA, SYNDROMIC 11; MCOPS11	VAX1
277440	VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A	VDR
607948	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO	VDR
603933	MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1; MVCD1	VEGFA
122700	COUMARIN RESISTANCE	VKORC1
607473	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2; VKCFD2	VKORC1
224050	CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME	VLDLR
193400	VON WILLEBRAND DISEASE, TYPE 1; VWD1	VWF
277480	VON WILLEBRAND DISEASE, TYPE 3; VWD3	VWF
613554	VON WILLEBRAND DISEASE, TYPE 2; VWD2	VWF
613610	CRANIOECTODERMAL DYSPLASIA 2; CED2	WDR35
614091	SHORT RIB-POLYDACTYLY SYNDROME, TYPE V; SRPS5	WDR35
609887	GLAUCOMA 1, OPEN ANGLE, G; GLC1G	WDR36
613211	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3; AI2A3	WDR72
610185	CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME	WDR81
222300	WOLFRAM SYNDROME 1; WFS1	WFS1
600965	DEAFNESS, AUTOSOMAL DOMINANT 6; DFNA6	WFS1
614296	WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT; WFSL	WFS1
224750	SCHOPF-SCHULZ-PASSARGE SYNDROME; SSPS	WNT10A
257980	ODONTOONYCHODERMAL DYSPLASIA; OODD	WNT10A
273395	TETRAAMELIA, AUTOSOMAL RECESSIVE	WNT3
158330	MULLERIAN APLASIA AND HYPERANDROGENISM	WNT4
277000	MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME	WNT4
611812	46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS;	WNT4
136680	FRASIER SYNDROME	WT1
156240	MESOTHELIOMA, MALIGNANT; MESOM	WT1
194070	WILMS TUMOR 1; WT1	WT1
194080	DENYS-DRASH SYNDROME; DDS	WT1
256370	NEPHROTIC SYNDROME, TYPE 4; NPHS4	WT1
608978	MEACHAM SYNDROME	WT1
612371	MAJOR AFFECTIVE DISORDER 7; MAFD7	XBP1
278700	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA	XPA
614069	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME	ZBTB24
612221	STATURE QUANTITATIVE TRAIT LOCUS 10; STQTL10	ZBTB38
235730	MOWAT-WILSON SYNDROME	ZEB2
187500	TETRALOGY OF FALLOT; TOF	ZFPM2
610187	DIAPHRAGMATIC HERNIA 3	ZFPM2
609637	HOLOPROSENCEPHALY 5; HPE5	ZIC2
605990	NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO	ZNF365
229200	BRITTLE CORNEA SYNDROME 1; BCS1	ZNF469