HASTALIK
GEN
2-aminoadipic 2-oxoadipic aciduriaDHTKD1
2-methylbutyrylglycinuriaACADSB
3-beta-hydroxysteroid dehydrogenase deficiency type 2HSD3B2
3-hydroxy-3-methylglutaryl-CoA lyase deficiencyHMGCL
3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiencyHMGCS2
3-hydroxyisobutryl-CoA hydrolase deficiencyHIBCH
3MC syndrome type 1MASP1
3MC syndrome type 2COLEC11
3-methylglutaconic aciduria type 1AUH
3-methylglutaconic aciduria type 3OPA3
3-methylglutaconic aciduria type 5DNAJC19
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndromeSERAC1
5-oxoprolinase deficiencyOPLAH
6q24-related transient neonatal diabetes mellitus type 1UPD chr. 6
17-beta hydroxysteroid dehydrogenase X deficiencyHSD17B10
17-hydroxylation activity deficiencyCYP17A1
46,XX sex reversal type 1SRY
46,XY gonadal dysgenesis, partial, with minifascicular neuropathyDHH
46,XY sex reversal type 8, modifier ofAKR1C4
AbetalipoproteinemiaMTTP
Accelerated tumor formation, susceptibility toMDM2
Acetycholinesterase deficiencyACHE
Acetyl-CoA carboxylase deficiencyACACA
Achalasia addisonianism alacrimia syndromeAAAS
Achalasia addisonianism alacrimia syndromeAAAS
Achondrogenesis type 1ATRIP11
Achondrogenesis type 1BSLC26A2
Achondrogenesis type 2COL2A1
Achondrogenesis type 2COL2A1
AchondroplasiaFGFR3
Achromatopsia type 2CNGA3
Achromatopsia type 3CNGB3
Achromatopsia type 4GNAT2
Achromatopsia type 6PDE6H
Acne inversa familial type 3PSEN1
Acrocallosal syndromeKIF7
Acrodermatitis enteropathicaSLC39A4
Acrodysostosis 2PDE4D
Acrodysostosis type 1, with or without hormone resistancePRKAR1A
Acrofacial dysostosis 1, Nager typeSF3B4
Acromegaly, predisposition to, due to germline GPR101 mutationGPR101
Acromelic frontonasal dysostosisZSWIM6
Acromesomelic dysplasia, Maroteaux typeNPR2
Acromicric dysplasiaFBN1
Acute myeloid leukemia, somatic, DNMT3A relatedDNMT3A
Acyl-CoA medium-chain dehydrogenase deficiencyACADM
Acyl-CoA multiple dehydrogenase deficiencyETFA
Acyl-CoA multiple dehydrogenase deficiencyETFB
Acyl-CoA peroxisomal oxidase deficiencyACOX1
Acyl-CoA short-chain dehydrogenase deficiencyACADS
Acyl-CoA very long-chain dehydrogenase deficiencyACADVL
Adams-Oliver syndrome type 1ARHGAP31
Adams-Oliver syndrome type 2DOCK6
Adams-Oliver syndrome type 3RBPJ
Adams-Oliver syndrome type 4EOGT
Adams-Oliver syndrome type 6DLL4
Adenine phosphoribosyltransferase deficiencyAPRT
Adenocarcinoma of lung, somaticBRAF
Adenocarcinoma of lung, somaticERBB2
Adenoma, periampullary, somaticAPC
Adenosine triphosphate, elevated, of erythrocytesPKLR
Adenylosuccinase deficiencyADSL
Adrenal adenoma, somaticMEN1
Adrenal hyperplasia due to 21-hydroxylase deficiencyCYP21A2
Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyPOR
Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiencyCYP11B1
Adrenal hypoplasiaNR0B1
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or completeCYP11A1
Adrenocorticotropic hormone deficiencyTBX19
Adrenoleukodystrophy, x-linkedABCD1
Adrenoleukodystrophy, x-linkedPLXNB3
Adrenoleukodystrophy/AdrenomyeloneuropathyABCD1
ADULT syndrome, split hand-foot malformationTP63
Afibrinogenemia, congenitalFGA
Afibrinogenemia, congenitalFGB
Afibrinogenemia, congenitalFGG
Agammaglobulinemia and isolated hormone deficiencyBTK
Agammaglobulinemia type 1, autosomal recessiveIGHM
Agammaglobulinemia type 1, X-linkedBTK
Agammaglobulinemia type 2, autosomal recessiveIGLL1
Agammaglobulinemia type 3, autosomal recessiveCD79A
Agammaglobulinemia type 4, autosomal recessiveBLNK
Agammaglobulinemia type 5, autosomal recessiveLRRC8A
Agammaglobulinemia type 6, autosomal recessiveCD79B
Agammaglobulinemia type 7, autosomal recessivePIK3R1
Agenesis of the corpus callosum with peripheral neuropathySLC12A6
Aicardi-Goutieres syndrome type 1TREX1
Aicardi-Goutieres syndrome type 2RNASEH2B
Aicardi-Goutieres syndrome type 3RNASEH2C
Aicardi-Goutieres syndrome type 4RNASEH2A
Aicardi-Goutieres syndrome type 5SAMHD1
Aicardi-Goutieres syndrome type 6ADAR
Aicardi-Goutieres syndrome type 7IFIH1
Alacrima, achalasia and mental retardation syndromeGMPPA
Alagille syndrome type 1JAG1
Alagille syndrome type 2NOTCH2
Aland Island eye diseaseCACNA1F
Alazami syndromeLARP7
Albinism, ocular type I, Nettleship-Falls typeGPR143
Albinism, oculocutaneous nonsyndromicSLC24A5
Albinism, oculocutaneous nonsyndromicSLC24A5
Albinism, oculocutaneous type 1ATYR
Albinism, oculocutaneous type 1ATYR
Albinism, oculocutaneous type 1BTYR
Albinism, oculocutaneous type 1BTYR
Albinism, oculocutaneous type 2OCA2
Albinism, oculocutaneous type 2OCA2
Albinism, oculocutaneous type 3TYRP1
Albinism, oculocutaneous type 3TYRP1
Albinism, oculocutaneous type 4SLC45A2
Albinism, oculocutaneous type 4SLC45A2
Albinism, oculocutaneous type 5C10ORF11
Albinism, oculocutaneous type 5C10ORF11
Alexander diseaseGFAP
AlkaptonuriaHGD
Allan-Herndon-Dudley syndromeSLC16A2
Allan-Herndon-Dudley syndromeSLC16A2
Alopecia universalisHR
Alpha-2-macroglobulin deficiencyA2M
Alpha-ketoglutarate dehydrogenase deficiencyOGDH
Alpha-methylacyl CoA racemase deficiencyAMACR
Alpha-thalassemia/mental retardation syndromeATRX
Alpha-thalassemia/mental retardation syndromeATRX
Alpha-thalassemia/mental retardation syndromeATRX
Alport syndrome, autosomal recessiveCOL4A3
Alport syndrome, autosomal recessiveCOL4A3
Alport syndrome, autosomal recessiveCOL4A4
Alport syndrome, autosomal recessiveCOL4A4
Alport syndrome, X-LinkedCOL4A5
Alport syndrome, X-LinkedCOL4A5
Al-Raqad syndromeDCPS
Alstrom syndromeALMS1
Alternating hemiplegia of childhood type 1ATP1A2
Alternating hemiplegia of childhood type 2ATP1A3
Alveolar capillary dysplasia with misalignment of pulmonary veinsFOXF1
Alzheimer disease type 1APP
Alzheimer disease type 2APOE
Alzheimer disease type 3PSEN1
Alzheimer disease type 4PSEN2
Alzheimers disease, early onset, autosomal dominantSORL1
Alzheimers disease, RTN3 relatedRTN3
Amelogenesis imperfecta type 1ALAMB3
Amelogenesis imperfecta type 1BENAM
Amelogenesis imperfecta type 1CENAM
Amelogenesis imperfecta type 1EAMELX
Amelogenesis imperfecta type 1FAMBN
Amelogenesis imperfecta type 1GFAM20A
Amelogenesis imperfecta type 1HITGB6
Amelogenesis imperfecta type 2A1KLK4
Amelogenesis imperfecta type 2A2MMP20
Amelogenesis imperfecta type 2A3WDR72
Amelogenesis imperfecta type 2A4C4orf26
Amelogenesis imperfecta type 2A5SLC24A4
Amelogenesis imperfecta type 3FAM83H
Amelogenesis imperfecta type 4DLX3
Amelotin deficiencyAMTN
Aminoacylase deficiencyACY1
Amish infantile epilepsy syndromeST3GAL5
AMP deaminase deficiency, erythrocyticAMPD3
AmyloidosisTTR
Amyloidosis, familial visceralAPOA1
Amyloidosis, finnish typeGSN
Amyloidosis, primary localized cutaneous, type 1OSMR
Amyloidosis, primary localized cutaneous, type 2IL31RA
Amyotrophic lateral sclerosis risk factorCHGB
Amyotrophic lateral sclerosis type 1SOD1
Amyotrophic lateral sclerosis type 2, juvenileALS2
Amyotrophic lateral sclerosis type 4SETX
Amyotrophic lateral sclerosis type 6FUS
Amyotrophic lateral sclerosis type 8VAPB
Amyotrophic lateral sclerosis type 9ANG
Amyotrophic lateral sclerosis type 10TARDBP
Amyotrophic lateral sclerosis type 11FIG4
Amyotrophic lateral sclerosis type 12OPTN
Amyotrophic lateral sclerosis type 14VCP
Amyotrophic lateral sclerosis type 16SIGMAR1
Amyotrophic lateral sclerosis type 17CHMP2B
Amyotrophic lateral sclerosis type 18PFN1
Amyotrophic lateral sclerosis type 21MATR3
Amyotrophic lateral sclerosis with frontotemporal dementiaC9orf72
Amyotrophic lateral sclerosis, CREST relatedSS18L1
Amyotrophic lateral sclerosis, susceptibility toNEFH
Amyotrophic lateral sclerosis, VPS54 relatedVPS54
Amyotrophic lateral sclerosis, x-linked juvenile and adult-onset ALSUBQLN2
Amyotrophy hereditary neuralgicSEPT9
Andersen diseaseGBE1
Androgen insensitivityAR
Androgen insensitivity, partial, with or without breast cancerAR
Androgen-binding protein deficiencySHBG
Anemia dyserythropoietic type 1ACDAN1
Anemia dyserythropoietic type 2SEC23B
Anemia, neonatal hemolytic, fatal and near-fatalSPTB
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessiveGLRX5
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessiveSLC25A38
Anemia, sideroblastic, with ataxiaABCB7
Anemia, sideroblastic, X-linkedALAS2
Anemia, X-linkedGATA1
Angelman syndromechr. 15q11
Angelman syndromeUBE3A
Angelman-like syndromeCDKL5
Angelman-like syndromeMECP2
Angioedema, hereditarySERPING1
Angiofibroma, somaticMEN1
AnhaptoglobinemiaHP
AniridiaPAX6
Ankyloblepharon-ectodermal defects-cleft lip/palateTP63
Anterior segment mesenchymal dysgenesisPITX3
Anterior segment mesenchymal dysgenesisPITX3
Antithrombin III deficiencySERPINC1
Antitrypsin-alpha-1 deficiencySERPINA1
Antley-Bixler syndromeFGFR2
Aortic aneurysm, familial thoracic type 3TGFBR2
Aortic aneurysm, familial thoracic type 4MYH11
Aortic aneurysm, familial thoracic type 5TGFBR1
Aortic aneurysm, familial thoracic type 6ACTA2
Aortic aneurysm, familial thoracic type 7MYLK
Aortic aneurysm, familial thoracic type 8PRKG1
Aortic aneurysm, familial thoracic, MAT2A relatedMAT2A
Aortic valve disease type 1NOTCH1
Aortic valve disease type 2SMAD6
Apert syndromeFGFR2
Aplastic anemiaPRF1
Aplastic anemiaTERC
Aplastic anemia, SBDS relatedSBDS
Apolipoprotein C-II deficiencyAPOC2
Apparent mineralocorticoid excessHSD11B2
Arginase deficiencyARG1
Arginine-glycine amidinotransferase deficiencyGATM
Argininosuccinic aciduriaASL
Aromatase deficiencyCYP19A1
Aromatic L-amino acid decarboxylase deficiencyDDC
Arrhythmogenic right ventricular cardiomyopathy type 1TGFB3
Arrhythmogenic right ventricular cardiomyopathy type 5TMEM43
Arrhythmogenic right ventricular cardiomyopathy type 8DSP
Arrhythmogenic right ventricular cardiomyopathy type 9PKP2
Arrhythmogenic right ventricular cardiomyopathy type 10DSG2
Arrhythmogenic right ventricular cardiomyopathy type 11DSC2
Arrhythmogenic right ventricular cardiomyopathy type 12JUP
Arrhythmogenic right ventricular dysplasia type 2RYR2
Arterial calcification type 1, generalized, infantileENPP1
Arterial calcification type 2, generalized, infantileABCC6
Arterial Tortuosity SyndromeSLC2A10
Arthrogryposis, distal, type 1ATPM2
Arthrogryposis, distal, type 1BMYBPC1
Arthrogryposis, distal, type 2AMYH3
Arthrogryposis, distal, type 2BMYH3
Arthrogryposis, distal, type 2BTNNI2
Arthrogryposis, distal, type 2BTNNT3
Arthrogryposis, distal, type 3PIEZO2
Arthrogryposis, distal, type 5DECEL1
Arthrogryposis, distal, type 5PIEZO2
Arthrogryposis, distal, type 7MYH8
Arthrogryposis, mental retardation, and seizuresSLC35A3
Arthrogryposis, renal dysfunction, and cholestasis type 1VPS33B
Arthrogryposis, renal dysfunction, and cholestasis type 2VIPAS39
Arthrogryposis, renal dysfunction, and cholestasis type 2VIPAS39
Arthropathy, progressive pseudorheumatoid, of childhoodWISP3
Arts syndromePRPS1
Asparaginesynthetase deficiencyASNS
AspartylglucosaminuriaAGA
Asperger syndrome susceptibility X-linked type 2NLGN3
Ataxia and muscle hypotoniaCOX20
Ataxia telangiectasia like disorderMRE11A
Ataxia, posterior column, with retinitis pigmentosaFLVCR1
Ataxia, progressive seizures, mental deterioration, and hearing loss, MT-TV relatedMT-TV
Ataxia-oculomotor apraxia type 1APTX
Ataxia-oculomotor apraxia type 2SETX
Ataxia-oculomotor apraxia type 3PIK3R5
Ataxia-oculomotor apraxia type 4PNKP
Ataxia-telangiectasiaATM
Atelosteogenesis type 1FLNB
Atelosteogenesis type 3FLNB
Athabaskan brainstem dysgenesis syndromeHOXA1
Atherosclerosis, SOAT1 relatedSOAT1
Atrial fibrillation type 3KCNQ1
Atrial fibrillation type 4KCNE2
Atrial fibrillation type 6NPPA
Atrial fibrillation type 7KCNA5
Atrial fibrillation type 10SCN5A
Atrial fibrillation type 11GJA5
Atrial fibrillation type 12ABCC9
Atrial septal defect type 2GATA4
Atrial septal defect type 3MYH6
Atrial septal defect type 4TBX20
Atrial septal defect type 5ACTC1
Atrial septal defect type 8CITED2
Atrial septal defect type 9GATA6
Atrial septal defect with atrioventricular conduction defectsNKX2-5
Atrichia with papular lesionsHR
Atrioventricular septal defect type 4GATA4
Atrioventricular septal defect type 5GATA6
Atrioventricular septal defect, partial with heterotaxy syndromeCRELD1
Attention deficit-hyperactivity disorderDRD4
Attention deficit-hyperactivity disorderDRD5
Atypical Mycobacterial infectionIFNGR2
Atypical Mycobacterial infectionIKBKG
Atypical Mycobacterial infectionIL12RB1
Atypical Mycobacterial infectionSTAT1
Atypical Mycobacterial infection, IL12RB2 relatedIL12RB2
Auditory neuropathy, autosomal dominantDIAPH3
Auriculocondylar syndrome type 1GNAI3
Auriculocondylar syndrome type 2PLCB4
Auriculocondylar syndrome type 2PLCB4
Autism spectrum disorderAHNAK2
Autism spectrum disorderANKS3
Autism spectrum disorderBPIFA3
Autism spectrum disorderEN2
Autism spectrum disorderRABGGTA
Autism spectrum disorder, MYO16 relatedMYO16
Autism spectrum, MXRA5 relatedMXRA5
Autism spectrum/ hyperactivity/ bipolar disorder, GRM7 relatedGRM7
Autism susceptibility, X-linked type 1NLGN3
Autism susceptibility, X-linked type 2NLGN4X
Autism susceptibility, X-linked type 3MECP2
Autism susceptibility, X-linked type 4PTCHD1
Autism susceptibility, X-linked type 5RPL10
Autism susceptibility, X-linked type 17SHANK2
Autism, ATP1B4 relatedATP1B4
Autism, AVPR1A relatedAVPR1A
Autism, C7orf43 relatedC7orf43
Autism, CELF6 relatedCELF6
Autism, EFCAB13 relatedEFCAB13
Autism, FAAH2 relatedFAAH2
Autism, FCRL6 relatedFCRL6
Autism, GYG2 relatedGYG2
Autism, IQCE relatedIQCE
Autism, MBD1 relatedMBD1
Autism, NTNG1 relatedNTNG1
Autism, OR13H1 relatedOR13H1
Autism, OXTR relatedOXTR
Autism, PKHD1L1 relatedPKHD1L1
Autism, RNF128 relatedRNF128
Autism, RRM1 relatedRRM1
Autism, SETD2 relatedSETD2
Autism, SLC22A9 relatedSLC22A9
Autism, UNC13B relatedUNC13B
Autism, ZNF778 relatedZNF778
Autism/Mental retardation/Angelman syndrome, susceptibility to, ATP10A relatedATP10A
Autoimmune lymphoproliferative syndrome type 1AFAS
Autoimmune lymphoproliferative syndrome type 1BFASLG
Autoimmune lymphoproliferative syndrome type 2ACASP10
Autoimmune lymphoproliferative syndrome type 2BCASP8
Autoimmune lymphoproliferative syndrome type 3PRKCD
Autoimmune polyendocrinopathy syndrome type 1AIRE
Autoinflammation, lipodystroph and dermatosis syndromePSMB8
Avascular necrosis of the femoral head, primaryCOL2A1
Axenfeld-Rieger syndrome type 1PITX2
Axenfeld-Rieger syndrome type 3FOXC1
Azoospermia induced by Y chromosome microdeletionsAZF region
Bainbridge-Ropers syndromeASXL3
Baller-Gerold syndromeRECQL4
Band-like calcification with simplified gyration and polymicrogyriaOCLN
Baraitser-Winter syndrome type 1ACTB
Baraitser-Winter syndrome type 2ACTG1
Bardet-Biedl syndrome type 1BBS1
Bardet-Biedl syndrome type 2BBS2
Bardet-Biedl syndrome type 3ARL6
Bardet-Biedl syndrome type 4BBS4
Bardet-Biedl syndrome type 5BBS5
Bardet-Biedl syndrome type 6MKKS
Bardet-Biedl syndrome type 7BBS7
Bardet-Biedl syndrome type 8TTC8
Bardet-Biedl syndrome type 9BBS9
Bardet-Biedl syndrome type 10BBS10
Bardet-Biedl syndrome type 11TRIM32
Bardet-Biedl syndrome type 12BBS12
Bardet-Biedl syndrome type 13MKS1
Bardet-Biedl syndrome type 14CEP290
Bardet-Biedl syndrome type 14CEP290
Bardet-Biedl syndrome type 15WDPCP
Bardet-Biedl syndrome, LZTFL1 relatedLZTFL1
Bardet-Biedl syndrome, modifier of, CCDC28B relatedCCDC28B
Bare lymphocyte syndrome, type 2, complementation group ACIITA
Bare lymphocyte syndrome, type 2RFXANK
Barth syndromeTAZ
Bartter syndromeSLC12A2
Bartter syndromeSLC12A3
Bartter syndromeSLC12A5
Bartter syndromeSLC12A7
Bartter syndrome type 1SLC12A1
Bartter syndrome type 2KCNJ1
Bartter syndrome type 3CLCNKB
Bartter syndrome type 4aBSND
Bartter syndrome type 4bCLCNKA
Basal cell carcinoma type 7, susceptibility to, somaticTP53
Basal cell nevus syndromePTCH1
Basal cell nevus syndromePTCH1
Basal cell nevus syndromeSUFU
Basal cell nevus syndromeSUFU
Basal cell nevus syndrome due to germline PTCH2 mutationPTCH2
Basal ganglia calcification type 1, ideopathicSLC20A2
Basal ganglia calcification type 4PDGFRB
Basal ganglia calcification type 5, idiopathicPDGFB
Basal ganglia calcification type 6, idiopathicXPR1
B-cell expansion with NFKB and T-cell anergyCARD11
Beare-Stevenson cutis gyrata syndromeFGFR2
Beckwith-Wiedemann syndromeCDKN1C
Beckwith-Wiedemann syndromechr. 11p15
Beckwith-Wiedemann syndromeH19
Beckwith-Wiedemann syndromeKCNQ1OT1
Beckwith-Wiedemann syndromeNSD1
Bent bone dysplasia syndromeFGFR2
Bernard Soulier syndrome type A1GP1BA
Bernard Soulier syndrome type A2GP1BA
Bernard Soulier syndrome type BGP1BB
Bernard Soulier syndrome type CGP9
BestrophinopathyBEST1
Beta-Galactosamide alpha-2,6-Sialyltransferase 2 deficiencyST6GAL2
Beta-ureidopropionase deficiencyUPB1
Beta-ureidopropionase deficiencyUPB1
Bethlem myopathyCOL6A1
Bethlem myopathyCOL6A2
Bethlem myopathy type 1COL6A3
Bethlem myopathy type 2COL12A1
Bicuspid aortic valveTIMP1
Bietti crystalline corneoretinal dystrophyCYP4V2
Bifid noseFREM1
Bile acid malabsorption, primarySLC10A2
Bile acid synthesis defect type 2, congenitalAKR1D1
Bile acid synthesis defect type 3, congenitalCYP7B1
Bile acid synthesis defect type 4, congenitalAMACR
Biotinidase deficiencyBTD
Birt-Hogg-Dube syndromeFLCN
Bjornstad syndromeBCS1L
Bladder cancer, HRAS related, somaticHRAS
Bladder cancer, somaticFGFR3
Bladder cancer, somaticKRAS
Bladder cancer, TSC1-related, somaticTSC1
Blau syndromeNOD2
Bleeding disorder, platelet-type 8P2RY12
Bleeding disorder, platelet-type 15ACTN1
Bleeding disorder, platelet-type 17GFI1B
Blepharophimosis, epicanthus inversus, and ptosisFOXL2
Blepharophimosis-ptosis-intellectual disability syndromeUBE3B
Bloom syndromeBLM
Bohring-Opitz syndromeASXL1
Bone marrow failure syndrome type 1SRP72
Bone marrow failure syndrome type 2ERCC6L2
Bone marrow failure syndrome type 2ERCC6L2
Bone mineral density QTL18, osteoporosisPLS3
Borjeson-Forssman-Lehmann syndromePHF6
Bothnia retinal dystrophyRLBP1
Brachydactyly type A1CGDF5
Brachydactyly type A2BMP2
Brachydactyly type A2BMPR1B
Brachydactyly type B1ROR2
Brachydactyly type E1HOXD13
Brachydactyly-mental retardation syndromeHDAC4
Brachydactyly-syndactyly syndromeHOXD13
BradyopsiaRGS9BP
BradyopsiaRGS9
BRAF somatic Hotspot: c.1799T>A p.V600EBRAF
BRAF, selective sequencing of exon 15BRAF
Branched-chain aminotransferase 1 deficiencyBCAT1
Branched-chain aminotransferase 2 deficiencyBCAT2
Branched-chain ketoacid dehydrogenase kinase deficiencyBCKDK
Branchiooculofacial syndromeTFAP2A
Branchiootic syndrome type 1EYA1
Branchiootorenal syndrome type 1EYA1
Branchiootorenal syndrome type 2SIX5
Breast cancer, male, susceptibility toBRCA2
Breast cancer, RINT1 relatedRINT1
Breast cancer, somaticKRAS
Breast cancer, susceptibility toBARD1
Breast cancer, susceptibility toPALB2
Breast cancer, susceptibility toRECQL
Breast cancer, susceptibility toXRCC3
Breast-ovarian cancerBRCA1
Breast-ovarian cancerRAD51C
Breast-ovarian cancer, familial, susceptibility to, type 4RAD51D
Breast-ovarian cancer, familial, type 2BRCA2
Brittle cornea syndromeZNF469
Brody myopathyATP2A1
Bronchiectasis with or without elevated sweat chloride type 2SCNN1A
Brown-Vialetto-Van Laere syndrome 1SLC52A3
Brown-Vialetto-Van Laere syndrome type 2SLC52A2
Brugada syndrome type 1SCN5A
Brugada syndrome type 2GPD1L
Brugada syndrome type 3CACNA1C
Brugada syndrome type 4CACNB2
Brugada syndrome type 5SCN1B
Brugada syndrome type 6KCNE3
Brugada syndrome type 7SCN3B
Brugada syndrome type 8HCN4
Brugada syndrome type 9SLMAP
Brunner syndromeMAOA
Budd-Chiari syndromeF5
Buschke-Ollendorff syndromeLEMD3
Butyrylcholinesterase deficiencyBCHE
C1q deficiencyC1QA
C2 deficiencyC2
C3 deficiencyC3
C5 deficiencyC5
C7 deficiencyC7
C syndromeCD96
CADASILNOTCH3
CALR, selective sequencing of exon 9CALR
Campomelic dysplasiaSOX9
Camptodactyly-arthropathy-coxa vara-pericarditis syndromePRG4
Camurati-Engelmann diseaseTGFB1
Canavan diseaseASPA
Cantu syndromeABCC9
Capillary malformation-arteriovenous malformationRASA1
CAPOS syndromeATP1A3
CARASILHTRA1
Carbamoylphosphate synthetase I deficiencyCPS1
Carcinoid tumor of lung, somaticMEN1
Carcinoid tumors, intestinalSDHD
Cardiac defects, CNOT3 relatedCNOT3
Cardiac defects, PPP1R8 relatedPPP1R8
Cardiac valvular dysplesia, X-linkedFLNA
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiencySCO2
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 2COX15
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3COA5
Cardiofaciocutaneous syndromeBRAF
Cardiofaciocutaneous syndromeKRAS
Cardiofaciocutaneous syndrome type 3MAP2K1
Cardiofaciocutaneous syndrome type 4MAP2K2
Cardiomyopathy, apical hypertrophic, and neuropathy, MT-ATP8 relatedMT-ATP8
Cardiomyopathy, dilatedMYBPC3
Cardiomyopathy, dilated type 1ALMNA
Cardiomyopathy, dilated type 1AAACTN2
Cardiomyopathy, dilated type 1BBDSG2
Cardiomyopathy, dilated type 1CLDB3
Cardiomyopathy, dilated type 1CCNEXN
Cardiomyopathy, dilated type 1DTNNT2
Cardiomyopathy, dilated type 1DDRBM20
Cardiomyopathy, dilated type 1ESCN5A
Cardiomyopathy, dilated type 1EEMYH6
Cardiomyopathy, dilated type 1GTTN
Cardiomyopathy, dilated type 1GGSDHA
Cardiomyopathy, dilated type 1HHBAG3
Cardiomyopathy, dilated type 1IDES
Cardiomyopathy, dilated type 1JEYA4
Cardiomyopathy, dilated type 1KKMYPN
Cardiomyopathy, dilated type 1LSGCD
Cardiomyopathy, dilated type 1LLPRDM16
Cardiomyopathy, dilated type 1MCSRP3
Cardiomyopathy, dilated type 1NTCAP
Cardiomyopathy, dilated type 1OABCC9
Cardiomyopathy, dilated type 1PPLN
Cardiomyopathy, dilated type 1RACTC1
Cardiomyopathy, dilated type 1SMYH7
Cardiomyopathy, dilated type 1TTMPO
Cardiomyopathy, dilated type 1UPSEN1
Cardiomyopathy, dilated type 1VPSEN2
Cardiomyopathy, dilated type 1WVCL
Cardiomyopathy, dilated type 1XFKTN
Cardiomyopathy, dilated type 1YTPM1
Cardiomyopathy, dilated type 1ZTNNC1
Cardiomyopathy, dilated type 1CRYAB
Cardiomyopathy, dilated type 2ATNNI3
Cardiomyopathy, dilated type 2BGATAD1
Cardiomyopathy, dilated type 3BDMD
Cardiomyopathy, dilated with ataxiaDNAJC19
Cardiomyopathy, dilated with hypergonadotropic hypogonadismLMNA
Cardiomyopathy, dilated with woolly hair and keratodermaDSP
Cardiomyopathy, familial hypertrophicCAV3
Cardiomyopathy, familial hypertrophic type 1MYH7
Cardiomyopathy, familial hypertrophic type 2TNNT2
Cardiomyopathy, familial hypertrophic type 3TPM1
Cardiomyopathy, familial hypertrophic type 4MYBPC3
Cardiomyopathy, familial hypertrophic type 6PRKAG2
Cardiomyopathy, familial hypertrophic type 7TNNI3
Cardiomyopathy, familial hypertrophic type 8MYL3
Cardiomyopathy, familial hypertrophic type 9TTN
Cardiomyopathy, familial hypertrophic type 10MYL2
Cardiomyopathy, familial hypertrophic type 11ACTC1
Cardiomyopathy, familial hypertrophic type 12CSRP3
Cardiomyopathy, familial hypertrophic type 16MYOZ2
Cardiomyopathy, familial hypertrophic type 17JPH2
Cardiomyopathy, familial hypertrophic type 19CALR3
Cardiomyopathy, familial restrictive type 1TNNI3
Cardiomyopathy, fatal, MT-TI relatedMT-TI
Cardiomyopathy, hypertrophic, midventricular, digenicMYLK2
Cardiomyopathy, hypertrophic, MT-TG relatedMT-TG
Cardiomyopathy, hypertrophic, type 18PLN
Cardiomyopathy, hypertrophic, type 24LDB3
Cardiomyopathy, idiopathic dilated, mitochondrial, MT-TH relatedMT-TH
Cardiomyopathy, infantile hypertrophic, MT-ATP8 relatedMT-ATP8
Cardiomyopathy, left ventricular noncompaction, MYH7B relatedMYH7B
Carney complex type 1PRKAR1A
Carnitine deficiencySLC22A5
Carnitine palmitoyltransferase 1A deficiencyCPT1A
Carnitine palmitoyltransferase 1B deficiencyCPT1B
Carnitine palmitoyltransferase 2 deficiency, infantileCPT2
Carnitine palmitoyltransferase 2 deficiency, lethal neonatalCPT2
Carnitine-acylcarnitine translocase deficiencySLC25A20
Carotid intimal medial thickness type 1PPARG
Carpenter syndromeRAB23
Carpenter syndrome type 2MEGF8
Cartilage-hair hypoplasiaRMRP
Cataract 11, multiple typesPITX3
Cataract type 17, multiple typesCRYBB1
Cataract type 23CRYBA4
Cataract type 41WFS1
Cataract type 43UNC45B
Cataract, autosomal dominantGCNT2
Cataract, autosomal recessive congenital nuclear type 2CRYBB3
Cataract, autosomal recessive congenital type 1CRYAA
Cataract, autosomal recessive congenital type 2FYCO1
Cataract, autosomal recessive congenital type 4TDRD7
Cataract, autosomal recessive type 38AGK
Cataract, congenitalSORD
Cataract, congenital, associated with Marinesco-Sjogren SyndromeSIL1
Cataract, cortical pulverulent, late-onsetLIM2
Cataract, lamellarHSF4
Cataract, posterior polar type 2CRYAB
Cataract, pulverulent or cerulean, with or without microcorneaMAF
Cataract, X-linkedNHS
Cataract-microcornea syndromeGJA8
Cataracts with facial dysmorphism and neuropathyCTDP1
Catechol-o-methyltransferase deficiencyCOMT
Cell cycle disorder, CDC20 relatedCDC20
Central core diseaseRYR1
Central hypoventilation syndrome with or without Hirschsprung diseasePHOX2B
Central hypoventilation syndrome with or without Hirschsprung diseasePHOX2B
Central hypoventilation syndrome with or without Hirschsprung diseasePHOX2B
Central hypoventilation syndrome, congenitalASCL1
Central hypoventilation syndrome, congenitalASCL1
Central hypoventilation syndrome, congenitalASCL1
Central hypoventilation syndrome, congenitalBDNF
Central hypoventilation syndrome, congenitalECE1
Central hypoventilation syndrome, congenitalEDN3
Central hypoventilation syndrome, congenitalGDNF
Central hypoventilation syndrome, congenitalGFRA1
Central hypoventilation syndrome, congenitalMECP2
Central hypoventilation syndrome, congenitalPHOX2A
Central hypoventilation syndrome, congenitalRET
Central hypoventilation syndrome, congenitalZEB2
Centronuclear myopathy type 1MTMR14
Centronuclear myopathy type 3MYF6
Centronuclear myopathy type 4CCDC78
Cerebellar ataxiaCP
Cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3CA8
Cerebellar ataxia with deafness and narcolepsy, autosomal recessiveDNMT1
Cerebellar ataxia with mental retardation and dysequilibrium syndrome type 2WDR81
Cerebellar ataxia with spasticityGBA2
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4ATP8A2
Cerebellar ataxia, nonprogressive, with mental retardationCAMTA1
Cerebellar ataxia, SNX14 relatedSNX14
Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion type 1VLDLR
Cerebellar-retinal degeneration, infantileACO2
Cerebral amyloid angiopathyCST3
Cerebral amyloid angiopathy, APP relatedAPP
Cerebral cavernous malformations type 1KRIT1
Cerebral cavernous malformations type 2CCM2
Cerebral cavernous malformations type 3PDCD10
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndromeSNAP29
Cerebral palsy type 1, spastic quadriplegicGAD1
Cerebral palsy type 2, spastic quadriplegicKANK1
Cerebrooculofacioskeletal syndrome type 1ERCC6
Cerebrooculofacioskeletal syndrome type 4ERCC1
Cerebrotendinous xanthomatosisCYP27A1
Ceroid lipofuscinosis neuronal type 1PPT1
Ceroid lipofuscinosis neuronal type 2TPP1
Ceroid lipofuscinosis neuronal type 3CLN3
Ceroid lipofuscinosis neuronal type 4DNAJC5
Ceroid lipofuscinosis neuronal type 5CLN5
Ceroid lipofuscinosis neuronal type 6CLN6
Ceroid lipofuscinosis neuronal type 7MFSD8
Ceroid lipofuscinosis neuronal type 8CLN8
Ceroid lipofuscinosis neuronal type 10CTSD
Ceroid lipofuscinosis neuronal type 11GRN
Cervical cancer, somaticFGFR3
Cervical dystoniaCIZ1
Chanarin-Dorfman syndromeABHD5
Charcot-Marie-Tooth disease, axonal type 20DYNC1H1
CHARGE syndromeCHD7
Chediak-Higashi syndromeLYST
CHILD syndromeNSDHL
CHIME syndromePIGL
Chloramphenicol resistance, MT-RNR2 relatedMT-RNR2
Choanal atresia and lymphedemaPTPN14
Cholestasis benign recurrent intrahepatic type 2ABCB11
Cholestasis intrahepatic, of pregnancy, type 3ABCB4
Cholestasis progressive intrahepatic type 1ATP8B1
Cholestasis progressive intrahepatic type 2ABCB11
Cholestasis progressive intrahepatic type 3ABCB4
Cholestasis, benign recurrent intrahepaticATP8B1
Cholestasis, infantile, NR1H4 relatedNR1H4
Cholestasis, intrahepatic, of pregnancy, type 1ATP8B1
Cholesteryl ester storage diseaseLIPA
Chondrocalcinosis type 2ANKH
Chondrodysplasia punctata, X-linked dominantEBP
Chondrodysplasia punctata, X-linked recessiveARSE
Chondrodysplasia with joint dislocations, GPAPP typeIMPAD1
Chondrodysplasia, Blomstrand typePTH1R
Chondrosarcoma, familialEXT1
Chorea, hereditary benignNKX2-1
ChoreoacanthocytosisVPS13A
Choroidal dystrophy, central areolar type 2PRPH2
ChoroideremiaCHM
Chrondrodysplasia, acromesomelic, with genital anomaliesBMPR1B
Chudley-McCullough syndromeGPSM2
Chylomicron retention diseaseSAR1B
Ciliogenesis related disorderPTPN23
Citrin deficiencySLC25A13
CitrullinemiaASS1
CK syndromeNSDHL
Cleidocranial dysplasiaRUNX2
Club footPITX1
CMT1APMP22
CMT1BMPZ
CMT1CLITAF
CMT1DEGR2
CMT1EPMP22
CMT1FNEFL
CMT2A1KIF1B
CMT2A2MFN2
CMT2B1LMNA
CMT2B2MED25
CMT2BRAB7A
CMT2CTRPV4
CMT2DGARS
CMT2ENEFL
CMT2FHSPB1
CMT2IMPZ
CMT2JMPZ
CMT2KGDAP1
CMT2LHSPB8
CMT2NAARS
CMT2PLRSAM1
CMT4, CTDP1 relatedCTDP1
CMT4AGDAP1
CMT4B1MTMR2
CMT4B2SBF2
CMT4CSH3TC2
CMT4DNDRG1
CMT4EEGR2
CMT4EMPZ
CMT4FPRX
CMT4HFGD4
CMT4JFIG4
CMTDIFGNB4
CMTRIBKARS
CMTRIBKARS
CMTRIBKARS
CMTRIDCOX6A1
CMTX1GJB1
CMTX4AIFM1
CMTX5PRPS1
CoA-2 4-dienoyl reductase 1 deficiencyDECR1
CoA-3-hydroxyacyl dehydrogenase deficiencyHADH
CoA-3-methylcrontonyl carboxylase 1 deficiencyMCCC1
CoA-3-methylcrontonyl carboxylase 2 deficiencyMCCC2
COACH syndromeCC2D2A
COACH syndromeRPGRIP1L
COACH syndromeTMEM67
Coarctation of the aortaMCTP2
Coat plus syndromeCTC1
Cockayne syndrome type AERCC8
Cockayne syndrome type BERCC6
CODAS syndromeLONP1
Coenzyme Q10 deficiency type 1COQ2
Coenzyme Q10 deficiency type 2PDSS1
Coenzyme Q10 deficiency type 3PDSS2
Coenzyme Q10 deficiency type 5COQ9
Coffin-Lowry syndromeRPS6KA3
Coffin-Siris syndrome, SMARCE1 relatedSMARCE1
Cohen syndromeVPS13B
Colchicine resistanceABCB1
Cold autoinflammatory syndrome type 2NLRP12
Cold-induced sweating syndromeCRLF1
Cold-induced sweating syndrome type 2CLCF1
Cole diseaseENPP1
Coloboma of optic nervePAX6
Coloboma, ocular, autosomal dominantPAX6
Colobomatous microphthalmiaTENM1
Colon cancer, PPARG related, somaticPPARG
Colorectal cancer, hereditaryNRAS
Colorectal cancer, hereditary nonpolyposis type 1MSH2
Colorectal cancer, hereditary nonpolyposis type 2MLH1
Colorectal cancer, hereditary nonpolyposis type 4PMS2
Colorectal cancer, hereditary nonpolyposis type 5MSH6
Colorectal cancer, hereditary nonpolyposis type 6TGFBR2
Colorectal cancer, hereditary nonpolyposis type 7MLH3
Colorectal cancer, hereditary nonpolyposis type 8EPCAM
Colorectal cancer, hereditary, susceptibility toCCND1
Colorectal Cancer, resistance to cetuximab, EGFR related, somaticEGFR
Colorectal cancer, somaticAPC
Colorectal cancer, somaticBRAF
Colorectal cancer, somaticCTNNB1
Colorectal cancer, somaticDCC
Colorectal cancer, somaticEP300
Colorectal cancer, somaticFGFR3
Colorectal cancer, somaticFLCN
Colorectal cancer, somaticNRAS
Combined cellular and humoral immune defects with granulomasRAG2
Combined D-2- and L-2-hydroxyglutaric aciduriaSLC25A1
Combined immunodeficiency, B cell-negative, T cell-negative, NK cell positiveRAG2
Combined immunodeficiency, X-linked, moderateIL2RG
Combined malonic and methylmalonic aciduriaACSF3
Combined oxidative phosphorylation deficiency type 1GFM1
Combined oxidative phosphorylation deficiency type 2MRPS16
Combined oxidative phosphorylation deficiency type 3TSFM
Combined oxidative phosphorylation deficiency type 4TUFM
Combined oxidative phosphorylation deficiency type 5MRPS22
Combined oxidative phosphorylation deficiency type 6AIFM1
Combined oxidative phosphorylation deficiency type 7C12ORF65
Combined oxidative phosphorylation deficiency type 8AARS2
Combined oxidative phosphorylation deficiency type 9MRPL3
Combined oxidative phosphorylation deficiency type 10MTO1
Combined oxidative phosphorylation deficiency type 11RMND1
Combined oxidative phosphorylation deficiency type 12EARS2
Combined oxidative phosphorylation deficiency type 13PNPT1
Combined oxidative phosphorylation deficiency type 14FARS2
Combined oxidative phosphorylation deficiency type 15MTFMT
Combined oxidative phosphorylation deficiency type 16MRPL44
Combined oxidative phosphorylation deficiency type 17ELAC2
Combined oxidative phosphorylation deficiency type 18SFXN4
Combined oxidative phosphorylation deficiency type 19LYRM4
Combined oxidative phosphorylation deficiency type 20VARS2
Combined oxidative phosphorylation deficiency type 21TARS2
Combined oxidative phosphorylation deficiency type 22ATP5A1
Combined oxidative phosphorylation deficiency type 23GTPBP3
Combined oxidative phosphorylation deficiency type 24NARS2
Combined oxidative phosphorylation deficiency type 25MARS2
Combined oxidative phosphorylation deficiency type 26TRMT5
Compton-North congenital myopathyCNTN1
Cone-rod dystrophyAIPL1
Cone-rod dystrophyUNC119
Cone-rod dystrophy type 2CRX
Cone-rod dystrophy type 3ABCA4
Cone-rod dystrophy type 4PDE6C
Cone-rod dystrophy type 5PITPNM3
Cone-rod dystrophy type 7RIMS1
Cone-rod dystrophy type 9ADAM9
Cone-rod dystrophy type 11RAX2
Cone-rod dystrophy type 12PROM1
Cone-rod dystrophy type 13RPGRIP1
Cone-rod dystrophy type 14GUCA1A
Cone-rod dystrophy type 15CDHR1
Cone-rod dystrophy type 17CD3G
Cone-rod dystrophy type 20POC1B
Cone-rod dystrophy, C21orf2 relatedC21orf2
Cone-rod dystrophy, X-linked type 3CACNA1F
Congenital bilateral absence of vas deferensCFTR
Congenital disorder of glycosylation, type IpALG11
Congenital disorder of glycosylation, type IqSRD5A3
Congenital disorder of glycosylation, type IwSTT3A
Congenital heart defects multiple typesTAB2
Congenital heart disease and transposition of the great arteriesFOXH1
Congenital muscular dystrophy and hypoglycosylation of α-dystroglycanB3GALNT2
Congenital short-bowel syndromeCLMP
Contractural arachnodactyly, congenitalFBN2
Convulsions, benign familial infantile, 3SCN2A
Convulsions, familial infantile, with paroxysmal choreoathetosisPRRT2
CoproporphyriaCPOX
Corneal dystrophy, epithelial basement membraneTGFBI
Corneal dystrophy, posterior polymorphous, type 1VSX1
Corneal endothelial dystrophy type 2SLC4A11
Corneal intraepithelial dyskeratosis and ectodermal dysplasiaNLRP1
Corneal opacification and other ocular anomaliesPXDN
Cornelia de Lange syndrome type 1NIPBL
Cornelia de Lange syndrome type 2SMC1A
Cornelia de Lange syndrome type 3SMC3
Cornelia de Lange syndrome type 4RAD21
Cornelia de Lange syndrome type 5HDAC8
Coronary artery disease in familial hypercholesterolemia, protection againstABCA1
Coronary heart disease, susceptibility to, type 6MMP3
Corpus callosum, agenesis of, with abnormal genitaliaARX
Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathiaIGBP1
Cortical dysplasia, complex, with other brain malformations, type 1TUBB3
Cortical dysplasia, complex, with other brain malformations, type 5TUBB2A
Cortical dysplasia-focal epilepsy syndromeCNTNAP2
Cortical malformations, occipitalLAMC3
Corticobasal Degeneration, CFL1 relatedCFL1
Costello syndromeHRAS
Coumarin resistanceVKORC1
Coumarin/Warfarin resistance due to CYP2C9 variantsCYP2C9
Cousin syndromeTBX15
Cowden syndrome type 1PTEN
Cowden syndrome type 3SDHD
Cowden syndrome type 5PIK3CA
Cowden syndrome type 6AKT1
Craniodiaphyseal dysplasia, autosomal dominantSOST
Cranioectodermal dysplasia type 1IFT122
Cranioectodermal dysplasia type 2WDR35
Cranioectodermal dysplasia type 3IFT43
Cranioectodermal dysplasia type 4WDR19
Craniofacial and neuro-developmental abnormalitiesDISP1
Craniofacial and neuro-developmental abnormalities, JAG2 relatedJAG2
Craniofacial anomalies and anterior segment dysgenesis syndromeVSX1
Craniofacial-skeletal-dermatologic dysplasiaFGFR2
Craniofrontonasal syndromeEFNB1
Craniometaphyseal dysplasiaANKH
Craniosynostosis and dental anomaliesIL11RA
Craniosynostosis type 1TWIST1
Craniosynostosis type 2MSX2
Craniosynostosis type 3TCF12
Craniosynostosis type 4ERF
Craniosynostosis type 6ZIC1
Craniosynostosis, FGFR1 relatedFGFR1
Craniosynostosis, nonspecificFGFR2
Creatine deficiency syndrome X-linkedSLC6A8
Creatine deficiency syndrome X-linkedSLC6A8
Creatine phosphokinase, elevated serumCAV3
Creutzfeldt-Jakob diseasePRNP
Crigler-Najjar syndrome, type 1UGT1A1
Crigler-Najjar syndrome, type 2UGT1A1
Crouzon syndromeFGFR2
Crouzon syndrome with acanthosis nigricansFGFR3
CryptorchidismRXFP2
CryptorchidismRXFP2
Currarino syndromeMNX1
Cutaneous telangiectasia and cancer syndrome, familialATR
Cutaneous telangiectasia and cancer syndrome, familialATR
Cutis laxa type 1A, autosomal recessiveFBLN5
Cutis laxa type 1B, autosomal recessiveEFEMP2
Cutis laxa type 1C, autosomal recessiveLTBP4
Cutis laxa type 2, autosomal dominantFBLN5
Cutis laxa type 2A, autosomal recessiveATP6V0A2
Cutis laxa type 2B, autosomal recessivePYCR1
Cutis laxa type 3A, autosomal recessiveALDH18A1
Cutis laxa type 3B, autosomal recessivePYCR1
Cutis laxa, autosomal dominantELN
Cyanosis, transient neonatalHBG2
Cylindromatosis, familialCYLD
CYP2C19 related poor drug metabolismCYP2C19
CystathioninuriaCTH
Cystic fibrosisCFTR
Cystic fibrosis, SLC6A14 relatedSLC6A14
Cystinosis, nephropathicCTNS
Cystinosis, nephropathicCTNS
CystinuriaPREPL
CystinuriaSLC3A1
CystinuriaSLC7A9
Cytochrome c oxidase 1 deficiencyMT-CO1
Cytochrome c oxidase 2 deficiencyMT-CO2
Cytochrome c oxidase 3 deficiencyMT-CO3
Cytochrome P450 deficiencyCYP1A2
Czech dysplasiaCOL2A1
Czech dysplasiaCOL2A1
D-2-hydroxyglutaric aciduria type 1D2HGDH
D-2-hydroxyglutaric aciduria type 2IDH2
Dandy-Walker malformation and occipital cephaloceles, LAMC1 relatedLAMC1
Danon diseaseLAMP2
Danon diseaseLAMP2
D-bifunctional protein deficiencyHSD17B4
D-bifunctional protein deficiencyHSD17B4
De Sanctis-Cacchione syndromeERCC6
Deafness and male infertilitySTRC
Deafness and male infertility, CATSPER2 relatedCATSPER2
Deafness and male infertility, CATSPER2 relatedCATSPER2
Deafness with keratopachydermia and constrictions of fingers and toesGJB2
Deafness, autosomal dominant type 1DIAPH1
Deafness, autosomal dominant type 2AKCNQ4
Deafness, autosomal dominant type 2BGJB3
Deafness, autosomal dominant type 3AGJB2
Deafness, autosomal dominant type 3BGJB6
Deafness, autosomal dominant type 4BCEACAM16
Deafness, autosomal dominant type 4MYH14
Deafness, autosomal dominant type 5DFNA5
Deafness, autosomal dominant type 6WFS1
Deafness, autosomal dominant type 9COCH
Deafness, autosomal dominant type 10EYA4
Deafness, autosomal dominant type 11MYO7A
Deafness, autosomal dominant type 12TECTA
Deafness, autosomal dominant type 13COL11A2
Deafness, autosomal dominant type 15POU4F3
Deafness, autosomal dominant type 17MYH9
Deafness, autosomal dominant type 20ACTG1
Deafness, autosomal dominant type 22MYO6
Deafness, autosomal dominant type 23SIX1
Deafness, autosomal dominant type 25SLC17A8
Deafness, autosomal dominant type 28GRHL2
Deafness, autosomal dominant type 36TMC1
Deafness, autosomal dominant type 39, with dentinogenesis type 1DSPP
Deafness, autosomal dominant type 40CRYM
Deafness, autosomal dominant type 44CCDC50
Deafness, autosomal dominant type 48MYO1A
Deafness, autosomal dominant type 50MIR96
Deafness, autosomal dominant type 52POU4F3
Deafness, autosomal dominant type 64DIABLO
Deafness, autosomal dominant type 65TBC1D24
Deafness, autosomal recessiveGJB3
Deafness, autosomal recessiveSUN1
Deafness, autosomal recessive type 1AGJB2
Deafness, autosomal recessive type 1BGJB6
Deafness, autosomal recessive type 2MYO7A
Deafness, autosomal recessive type 3MYO15A
Deafness, autosomal recessive type 4FOXI1
Deafness, autosomal recessive type 6TMIE
Deafness, autosomal recessive type 7TMC1
Deafness, autosomal recessive type 8/10TMPRSS3
Deafness, autosomal recessive type 9OTOF
Deafness, autosomal recessive type 15GIPC3
Deafness, autosomal recessive type 16STRC
Deafness, autosomal recessive type 18USH1C
Deafness, autosomal recessive type 22OTOA
Deafness, autosomal recessive type 23PCDH15
Deafness, autosomal recessive type 24RDX
Deafness, autosomal recessive type 25GRXCR1
Deafness, autosomal recessive type 28TRIOBP
Deafness, autosomal recessive type 29CLDN14
Deafness, autosomal recessive type 30MYO3A
Deafness, autosomal recessive type 31DFNB31
Deafness, autosomal recessive type 35ESRRB
Deafness, autosomal recessive type 36ESPN
Deafness, autosomal recessive type 39HGF
Deafness, autosomal recessive type 42ILDR1
Deafness, autosomal recessive type 48CIB2
Deafness, autosomal recessive type 49MARVELD2
Deafness, autosomal recessive type 53COL11A2
Deafness, autosomal recessive type 59DFNB59
Deafness, autosomal recessive type 61SLC26A5
Deafness, autosomal recessive type 63LRTOMT
Deafness, autosomal recessive type 66DCDC2
Deafness, autosomal recessive type 67LHFPL5
Deafness, autosomal recessive type 70PNPT1
Deafness, autosomal recessive type 74MSRB3
Deafness, autosomal recessive type 76SYNE4
Deafness, autosomal recessive type 77LOXHD1
Deafness, autosomal recessive type 79TPRN
Deafness, autosomal recessive type 84PTPRQ
Deafness, autosomal recessive type 86TBC1D24
Deafness, autosomal recessive type 89KARS
Deafness, autosomal recessive type 91SERPINB6
Deafness, autosomal recessive type 93CABP2
Deafness, autosomal recessive, type 12CDH23
Deafness, congenital with inner ear agenesis, microtia, and microdontiaFGF3
Deafness, dystonia, and cerebral hypomyelination, X-linkedBCAP31
Deafness, nonsyndromic, sensorineural, mitochondrialMT-RNR1
Deafness, X-linked type 1PRPS1
Deafness, X-linked type 2POU3F4
Deafness, X-linked type 4SMPX
Deafness, X-linked type 5AIFM1
Deafness, X-linked type 6COL4A6
Dehydrated hereditary stomatocytosisPIEZO1
Dejerine-Sottas diseaseEGR2
Dejerine-Sottas diseaseGJB1
Dejerine-Sottas diseaseMPZ
Dejerine-Sottas diseasePMP22
Dejerine-Sottas diseasePRX
Delta-beta thalassemiaHBB
Dementia, familial, British typeITM2B
Dementia, familial, Danish typeITM2B
Dementia, frontotemporalGRN
Dementia, frontotemporalMAPT
Dementia, frontotemporalPSEN1
Dementia, frontotemporalTARDBP
Dementia, Lewy bodySNCA
Dent diseaseCLCN5
Dent disease type 2OCRL
Dentatorubral-pallidoluysian atrophyATN1
Dentin dysplasia, type 2DSPP
Dentinogenesis imperfecta, Shields type 2DSPP
Dentinogenesis imperfecta, Shields type 3DSPP
Dermatitis, atopic type 2FLG
Dermatopathia pigmentosa reticularisKRT14
Desbuquois dysplasia type 1CANT1
Desbuquois dysplasia type 2XYLT1
Desmoid disease, hereditaryAPC
DesmosterolosisDHCR24
Developmental delay and microcephaly, SLC1A4 relatedSLC1A4
Developmental delay, GNAQ relatedGNAQ
Developmental delay, KMT2C relatedKMT2C
D-glyceric aciduriaGLYCTK
Diabetes insipidus, nephrogenic, autosomalAQP2
Diabetes insipidus, nephrogenic, X-linkedAVPR2
Diabetes insipidus, neurohypophysealAVP
Diabetes mellitus type 1INS
Diabetes mellitus, insulin-dependent type 20HNF1A
Diabetes mellitus, insulin-resistant with acanthosis nigricansINSR
Diabetes mellitus, neonatalGLIS3
Diabetes mellitus, noninsulin-dependentABCC8
Diabetes mellitus, noninsulin-dependentAKT2
Diabetes mellitus, noninsulin-dependentKCNJ11
Diabetes mellitus, permanent neonatalABCC8
Diabetes mellitus, transient neonatal type 2ABCC8
Diabetes, IGF2 relatedIGF2
Diamond Blackfan anemia type 15 with mandibulofacial dysostosisRPS28
Diamond Blackfan anemia type 15 with mandibulofacial dysostosisRPS28
Diamond-Blackfan anemia type 1RPS19
Diamond-blackfan anemia type 3RPS24
Diamond-Blackfan anemia type 4RPS17
Diamond-Blackfan anemia type 5RPL35A
Diamond-Blackfan anemia type 6RPL5
Diamond-Blackfan anemia type 7RPL11
Diamond-Blackfan anemia type 8RPS7
Diamond-Blackfan anemia type 9RPS10
Diamond-Blackfan anemia type 10RPS26
Diamond-Blackfan anemia type 11RPL26
Diamond-Blackfan anemia type 12RPL15
Diamond-Blackfan anemia type 13RPS29
Diamond-Blackfan anemia type 14 with mandibulofacial dysostosisTSR2
Diamond-Blackfan anemia type 14 with mandibulofacial dysostosisTSR2
Diaphragmatic hernia type 3ZFPM2
Diaphyseal medullary stenosis with malignant fibrous histiocytomaMTAP
Diarrhea type 1, secretory chloride, congenitalSLC26A3
Diarrhea type 2 with microvillus atrophyMYO5B
Diarrhea type 4, malabsorptive, congenitalNEUROG3
Diarrhea type 6GUCY2C
DI-CMTBDNM2
DI-CMTCYARS
DI-CMTDMPZ
DiGeorge syndromeTBX1
Dihydropyrimidine dehydrogenase deficiencyDPYD
DihydropyrimidinuriaDPYS
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesisDSP
Dimethylglycine dehydrogenase deficiencyDMGDH
Disorders of sex development with cleft palateFOXF2
Donnai-Barrow syndromeLRP2
DOOR syndromeTBC1D24
Dopamine beta-hydroxylase (DBH) deficiencyDBH
Doyne honeycob retinal dystrophyEFEMP1
Dravet syndromeGABRG2
Dravet syndromeSCN2A
Dravet syndrome, modifier ofSCN9A
Duane Retraction syndromeCHN1
Duane Retraction syndromeSALL4
Duane Retraction syndromeSALL4
Dubin-Johnson syndromeABCC2
Dyggve-Melchior-Clausen diseaseDYM
Dysautonomia, FRRS1L-relatedFRRS1L
Dyschromatosis symmetrica hereditariaADAR
Dyschromatosis universalis hereditaria type 3ABCB6
Dyserythropoietic anemiaCOX4I2
Dyserythropoietic anemia, congenital, type 1BC15orf41
Dyserythropoietic anemia, congenital, type 3KIF23
Dyserythropoietic anemia, congenital, type 4KLF1
Dyskeratosis congenita, autosomal dominant type 1TERC
Dyskeratosis congenita, autosomal recessive type 1NOP10
Dyskeratosis congenita, autosomal recessive type 2NHP2
Dyskeratosis congenita, autosomal recessive type 4/ autosomal dominant type 2TERT
Dyskeratosis congenita, autosomal recessive type 5RTEL1
Dyskeratosis congenita, autosomal recessive type 6PARN
Dyskeratosis congenita, autosomal recessive type 7ACD
Dyskeratosis congenita, X-linkedDKC1
Dyskinesia, familial, with facial myokymiaADCY5
DyslexiaPCDH11X
Dysmorphism, HMG20B relatedHMG20B
DysprothrombinemiaF2
Dyssegmental dysplasia, Silverman-Handmaker typeHSPG2
Dyssegmental dysplasia, Silverman-Handmaker typeHSPG2
Dystonia juvenile-onsetACTB
Dystonia, DOPA-responsive, autosomanl recessiveSPR
Dystonia-deafness syndromeTIMM8A
DYT1TOR1A
DYT2HPCA
DYT3TAF1
DYT4TUBB4A
DYT5AGCH1
DYT6THAP1
DYT8SLC2A1
DYT10PRRT2
DYT11, DRD2 relatedDRD2
DYT11SGCE
DYT12ATP1A3
DYT16PRKRA
DYT18SLC2A1
DYT23CACNA1B
DYT24ANO3
DYT25GNAL
DYT26, myoclonicKCTD17
DYT27COL6A3
Early infantile epileptic encephalopathy type 1ARX
Early infantile epileptic encephalopathy type 2CDKL5
Early infantile epileptic encephalopathy type 3SLC25A22
Early infantile epileptic encephalopathy type 4STXBP1
Early infantile epileptic encephalopathy type 5SPTAN1
Early infantile epileptic encephalopathy type 6SCN1A
Early infantile epileptic encephalopathy type 7KCNQ2
Early infantile epileptic encephalopathy type 8ARHGEF9
Early infantile epileptic encephalopathy type 9PCDH19
Early infantile epileptic encephalopathy type 10PNKP
Early infantile epileptic encephalopathy type 11SCN2A
Early infantile epileptic encephalopathy type 12PLCB1
Early infantile epileptic encephalopathy type 13SCN8A
Early infantile epileptic encephalopathy type 14KCNT1
Early infantile epileptic encephalopathy type 15ST3GAL3
Early infantile epileptic encephalopathy type 16TBC1D24
Early infantile epileptic encephalopathy type 17GNAO1
Early infantile epileptic encephalopathy type 19GABRA1
Early infantile epileptic encephalopathy type 20PIGA
Early infantile epileptic encephalopathy type 21NECAP1
Early infantile epileptic encephalopathy type 23DOCK7
Early infantile epileptic encephalopathy type 24HCN1
Early infantile epileptic encephalopathy type 25SLC13A5
Early infantile epileptic encephalopathy type 26KCNB1
Early infantile epileptic encephalopathy type 27GRIN2B
Early infantile epileptic encephalopathy type 28WWOX
Early infantile epileptic encephalopathy type 29AARS
Early infantile epileptic encephalopathy type 30SIK1
Early infantile epileptic encephalopathy type 31DNM1
Early infantile epileptic encephalopathy type 32KCNA2
Early infantile epileptic encephalopathy type 33EEF1A2
Early infantile epileptic encephalopathy type 40GUF1
Early infantile epileptic encephalopathy type 45GABRB1
Early infantile epileptic encephalopathy type 47FGF12
Early onset glaucoma, phenotype modifier of, COL15A1 relatedCOL15A1
Ectodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 3TP63
Ectodermal dysplasia type 4, hair/nail typeKRT85
Ectodermal dysplasia, ectrodactyly, and macular dystrophyCDH3
Ectodermal dysplasia, hidroticGJB6
Ectodermal dysplasia, hypohidrotic, autosomal recessiveEDAR
Ectodermal dysplasia, hypohidrotic, autosomal recessiveEDARADD
Ectodermal dysplasia, hypohidrotic, with immune deficiencyIKBKG
Ectodermal dysplasia, hypohidrotic, X-linkedEDA
Ectodermal dysplasia/skin fragility syndromePKP1
Ectopia lentis et pupillaeADAMTSL4
Ectopia lentis, familialFBN1
Ectopia lentis, isolated, autosomal recessiveADAMTSL4
Efavirenz, poor metabolism ofCYP2B6
EGFR somatic Hotspot: c.2573T>G, p.L858REGFR
EGFR, selective sequencing of exons 18-21EGFR
Ehlers-Danlos syndrome type 1/2COL5A1
Ehlers-Danlos syndrome type 1/2COL5A2
Ehlers-Danlos syndrome type 3COL3A1
Ehlers-Danlos syndrome type 3TNXB
Ehlers-Danlos syndrome type 4COL3A1
Ehlers-Danlos syndrome type 4COL5A1
Ehlers-Danlos syndrome type 6PLOD1
Ehlers-Danlos syndrome type 7ACOL1A1
Ehlers-Danlos syndrome type 7BCOL1A2
Ehlers-Danlos syndrome type 7CADAMTS2
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossFKBP14
Ehlers-Danlos syndrome, musculocontractural type 1CHST14
Ehlers-Danlos syndrome, musculocontractural type 2DSE
Ehlers-Danlos syndrome, progeroid type 1B4GALT7
Ehlers-Danlos syndrome, progeroid type, type 2B3GALT6
Ellis-van Creveld syndromeEVC2
Ellis-van Creveld syndromeEVC
Emberger syndromeGATA2
Emery-Dreifuss muscular dystrophy type 1EMD
Emery-Dreifuss muscular dystrophy type 2LMNA
Emery-Dreifuss muscular dystrophy type 4SYNE1
Emery-Dreifuss muscular dystrophy type 5SYNE2
Emery-Dreifuss muscular dystrophy type 6FHL1
Encephalomyopathy, mitochondrial, MT-TL2 relatedMT-TL2
Encephalomyopathy, mitochondrial, MT-TR relatedMT-TR
Encephalopathy acute necrotizing type 1RANBP2
Encephalopathy lethal, due to defective mitochondrial peroxisomal fissionDNM1L
Encephalopathy mitochondrialVDAC1
Encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiencyCOX10
Encephalopathy neonatal severeMECP2
Encephalopathy thiamine-responsiveSLC19A3
Encephalopathy, familial, with neuroserpin inclusion bodiesSERPINI1
Encephalopathy, mitochondrial, MT-TW relatedMT-TW
Encephalopathy, progressive, with or without lipodystrophyBSCL2
Endometrial cancer, familial, MSH6 relatedMSH6
Endometrial carcinoma, somaticCDH1
Endometrioid carcinoma, ARID1A related, somaticARID1A
Endplate acetylcholinesterase deficiencyCOLQ
Enterokinase deficiencyTMPRSS15
Epidermal nevus, somaticNRAS
Epidermolysis bullosa dystrophicaCOL7A1
Epidermolysis bullosa dystrophica, autosomal recessive, modifier ofMMP1
Epidermolysis bullosa junctionalis with pyloric atresiaITGA6
Epidermolysis bullosa junctionalis with pyloric atresiaITGB4
Epidermolysis bullosa simplexKRT5
Epidermolysis bullosa simplex with muscular dystrophyPLEC
Epidermolysis bullosa simplex with pyloric atresiaPLEC
Epidermolysis bullosa simplex, autosomal recessive type 1KRT14
Epidermolysis bullosa simplex, autosomal recessive type 2DST
Epidermolysis bullosa simplex, autosomal recessive type 2DST
Epidermolysis bullosa simplex, Dowling-Meara typeKRT14
Epidermolysis bullosa simplex, Koebner typeKRT14
Epidermolysis bullosa simplex, Ogna typePLEC
Epidermolysis bullosa simplex, Weber-Cockayne typeKRT14
Epidermolysis bullosa, generalized atrophic benignLAMA3
Epidermolysis bullosa, junctionalCOL17A1
Epidermolysis bullosa, junctionalLAMC2
Epidermolysis bullosa, junctional, Herlitz typeLAMA3
Epidermolysis bullosa, junctional, Herlitz typeLAMB3
Epidermolysis bullosa, junctional, non-Herlitz typeLAMB3
Epidermolysis bullosa, lethal acantholyticDSP
Epidermolysis bullosa, nonspecific, autosomal recessiveEXPH5
Epidermolytic hyperkeratosisKRT1
Epidermolytic hyperkeratosisKRT10
Epidermolytic palmoplantar keratodermaKRT9
Epilepsy with neurodevelopmental defectsGRIN2A
Epilepsy, childhood absence type 2GABRG2
Epilepsy, childhood absence type 4, susceptibility toGABRA1
Epilepsy, childhood absence type 5GABRB3
Epilepsy, childhood absence type 6, susceptibility toCACNA1H
Epilepsy, childhood absence, JRK relatedJRK
Epilepsy, familial focal with variable fociDEPDC5
Epilepsy, familial temporal lobe type 1LGI1
Epilepsy, familial temporal lobe type 5CPA6
Epilepsy, familial temporal lobe type 7RELN
Epilepsy, focal, SCN3A relatedSCN3A
Epilepsy, HCN2 relatedHCN2
Epilepsy, hearing loss, and mental retardation syndromeSPATA5
Epilepsy, idiopathic generalized type 10GABRD
Epilepsy, idiopathic generalized type 11CLCN2
Epilepsy, idiopathic generalized type 12SLC2A1
Epilepsy, juvenile absence type 1EFHC1
Epilepsy, nocturnal frontal lobeKCNT1
Epilepsy, nocturnal frontal lobe type 1CHRNA4
Epilepsy, nocturnal frontal lobe type 3CHRNB2
Epilepsy, nocturnal frontal lobe type 4CHRNA2
Epilepsy, progressive myoclonic 4, with or without renal failureSCARB2
Epilepsy, progressive myoclonic type 5PRICKLE2
Epilepsy, X-linked, with learning disabilities and behavior disordersSYN1
Epileptic encephalopathy, childhood-onsetCHD2
Epileptic encephalopathy, Lennox-Gastaut typeMAPK10
Epiphyseal dysplasia, multiple, type 1COMP
Epiphyseal dysplasia, multiple, type 3COL9A3
Epiphyseal dysplasia, multiple, type 5MATN3
Epiphyseal dysplasia, multiple, with myopia and deafnessCOL2A1
Episodic ataxia type 1KCNA1
Episodic ataxia type 2CACNA1A
Episodic ataxia type 5CACNB4
Episodic ataxia type 6SLC1A3
Episodic pain syndrome type 2, familialSCN10A
Episodic pain syndrome type 3, familialSCN11A
Epstein syndromeMYH9
Erythermalgia, primarySCN9A
Erythrocyte lactate transporter defectSLC16A1
Erythrocytosis, familial type 1EPOR
Erythrocytosis, familial type 3EGLN1
Erythrocytosis, familial type 4EPAS1
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis and hyper IgEDSG1
Erythrokeratodermia variabilis et progressiveGJB3
Erythrokeratodermia variabilis et progressiveGJB4
Esophageal cancer, somaticTGFBR2
Esophageal carcinoma, somaticDCC
Estrogen resistanceESR1
Ethylmalonic encephalopathyETHE1
Exfoliation syndrome, susceptibility toLOXL1
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosisCOX4I2
Exostoses, multiple, type 1EXT1
Exostoses, multiple, type 2EXT2
Exudative vitreoretinopathyFZD4
Exudative vitreoretinopathy type 2NDP
Exudative vitreoretinopathy type 5TSPAN12
Fabry diseaseGLA
Fabry diseaseGLA
Facial paresis type 3HOXB1
Faciogenital dysplasiaFGD1
Facioscapulohumeral dystrophy-like phenotype, FAT1 relatedFAT1
Factor II deficiencyF2
Factor II deficiencyF2
Factor V deficiencyF5
Factor VII deficiencyF7
Factor X deficiencyF10
Factor XI deficiencyF11
Factor XII deficiencyF12
Factor XIIIA deficiencyF13A1
Factor XIIIB deficiencyF13B
Familial adenomatous polyposis coliAPC
Familial adenomatous polyposis type 2MUTYH
Familial adenomatous polyposis type 3NTHL1
Familial adenomatous polyposis type 4MSH3
Familial atrial fibrillation type 13SCN1B
Familial hemiplegic migraine type 1CACNA1A
Familial hemiplegic migraine type 2ATP1A2
Familial hemiplegic migraine type 3SCN1A
Familial infantile myoclonic epilepsyTBC1D24
Fanconi anemia type AFANCA
Fanconi anemia type BFANCB
Fanconi anemia type CFANCC
Fanconi anemia type D1BRCA2
Fanconi anemia type D2FANCD2
Fanconi anemia type EFANCE
Fanconi anemia type FFANCF
Fanconi anemia type GFANCG
Fanconi anemia type IFANCI
Fanconi anemia type JBRIP1
Fanconi anemia type LFANCL
Fanconi anemia type MFANCM
Fanconi anemia type NPALB2
Fanconi anemia type PSLX4
Fanconi anemia, complementation group QERCC4
Fanconi anemia, complementation group QERCC4
Fanconi anemia, XRCCR2 relatedXRCC2
Fanconi renotubular syndrome type 2SLC34A1
Fanconi-Bickel syndromeSLC2A2
Fanconi-Bickel syndromeSLC2A2
Farber diseaseASAH1
Fatal familial imsomniaPRNP
Favism, susceptibility toG6PD
Favism, susceptibility toG6PD
Fazio-Londe diseaseSLC52A3
Febrile seizures, familial, type 4ADGRV1
Feingold syndromeMYCN
Feingold syndrome type 2MIR17HG
Fetal akinesia deformation sequenceDOK7
Fetal akinesia deformation sequenceRAPSN
FG syndrome type 1MED12
FG syndrome type 2FLNA
FG syndrome type 4CASK
Fibrochondrogenesis 2COL11A2
Fibrochondrogenesis type 1COL11A1
Fibrochondrogenesis type 1COL11A1
Fibrodysplasia ossificans progressivaACVR1
Fibrosis of extraocular muscles, congenital type 1KIF21A
Fibrosis of extraocular muscles, congenital type 2PHOX2A
Fibrosis of extraocular muscles, congenital type 3aTUBB3
Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactylyWNT7A
FilaminopathyFLNC
FILS syndromePOLE
Fish eye diseaseLCAT
Fleck retina, familial benignPLA2G5
Floating-Harbor syndromeSRCAP
Focal dermal hypoplasiaPORCN
Focal segmental glomerulosclerosis and dilated cardiomyopath, MT-TY relatedMT-TY
Focal segmental glomerulosclerosis type 1ACTN4
Focal segmental glomerulosclerosis type 2TRPC6
Focal segmental glomerulosclerosis type 3CD2AP
Focal segmental glomerulosclerosis type 4, susceptibility toAPOL1
Focal segmental glomerulosclerosis type 5INF2
Focal segmental glomerulosclerosis type 6MYO1E
Focal segmental glomerulosclerosis type 7PAX2
Focal segmental glomerulosclerosis type 8ANLN
Focal segmental glomerulosclerosis type 9CRB2
Focal segmental glomerulosclerosis, LAMA5 relatedLAMA5
Folate malabsorption, hereditarySLC46A1
Follicle-stimulating hormone deficiency, isolatedFSHB
Foveal hypoplasia type 1PAX6
Fragile X syndromeFMR1
Fragile X tremor/ataxia syndromeFMR1
Frank-ter Haar syndromeSH3PXD2B
Fraser syndromeFRAS1
Fraser syndromeFREM2
Fraser syndromeGRIP1
Friedreich ataxiaFXN
Frontometaphyseal dysplasiaFLNA
Frontonasal dysplasia type 1ALX3
Frontonasal dysplasia type 2ALX4
Fructose-1,6-bisphosphatase deficiencyFBP1
Fructose intoleranceALDOB
Fructose uptake deficiency, SLC2A5 relatedSLC2A5
Fructosuria essentialKHK
FSH releasing protein deficiencyINHBA
FucosidosisFUCA1
FucosidosisFUCA1
Fukuyama congenital muscular dystrophyFKTN
Fumarase deficiencyFH
Fumarase deficiencyFH
Fundus albipunctatusPRPH2
Fundus albipunctatusRDH5
GABA-transaminase deficiencyABAT
Galactokinase deficiencyGALK1
Galactose epimerase deficiencyGALE
GalactosemiaGALT
GalactosialidosisCTSA
Gallbladder disease type 1ABCB4
Galloway-Mowat syndromeWDR73
Gastric cancer, BLM related, somaticBLM
Gastric cancer, hereditary diffuseCDH1
Gastric cancer, somaticAPC
Gastric cancer, somaticERBB2
Gastric cancer, somaticFGFR2
Gastric cancer, somaticKLF6
Gastric cancer, somaticKRAS
Gastric cancer, somaticMUTYH
Gastrointestinal stromal tumor, familialKIT
Gastrointestinal stromal tumor, somaticPDGFRA
Gaucher disease type 1GBA
Gaucher disease type 2GBA
Gaucher disease type 3CGBA
Gaucher disease type 3GBA
Gaucher disease, atypicalPSAP
Gaucher disease, perinatal lethalGBA
Gaze palsy, horizontal, with progressive scoliosisROBO3
Gaze palsy, horizontal, with progressive scoliosisROBO3
Geleophysic dysplasia type 1ADAMTSL2
Geleophysic dysplasia type 2FBN1
Generalized epilepsy and paroxysmal dyskinesiaKCNMA1
Generalized epilepsy with febrile seizures plus type 1SCN1B
Generalized epilepsy with febrile seizures plus type 2SCN1A
Generalized epilepsy with febrile seizures plus type 3GABRG2
Generalized epilepsy with febrile seizures plus type 7SCN9A
Genitopatellar syndromeKAT6B
Germ cell tumors, somaticKIT
Geroderma osteodysplasticumGORAB
Gerstmann-Straussler diseasePRNP
Ghosal hematodiaphyseal syndromeTBXAS1
Giant axonal neuropathy type 1GAN
Gilbert syndromeUGT1A1
Gillespie syndromeITPR1
Gillespie syndromeITPR1
Gitelman syndromeSLC12A3
Glass syndromeSATB2
Glaucoma, open angle type 1AMYOC
Glaucoma, open angle type 1EOPTN
Glaucoma, open angle type 1FASB10
Glaucoma, open angle type 1FNTF4
Glaucoma, open angle type 1GWDR36
Glaucoma, primary type 3ACYP1B1
Glaucoma, primary type 3DLTBP2
Glioblastoma type 3, susceptibility to, due to BRCA2 germline mutationBRCA2
Glioblastoma, somaticERBB2
Glioma susceptibility 1, susceptibility to, somaticTP53
Glioma, susceptibility to, somaticIDH1
Glomerulocystic kidney disease with hyperuricemia and isosthenuriaUMOD
Glucocorticoid deficiency type 1MC2R
Glucocorticoid deficiency type 2MRAP
Glucocorticoid resistance, generalizedNR3C1
Glucose/Galactose malabsorptionSLC5A1
GLUT1 deficiency syndrome type 1SLC2A1
Glutamate formiminotransferase deficiencyFTCD
Glutamine deficiency, congenitalGLUL
Glutaric acidemia type 1GCDH
Glutaric acidemia type 2CETFDH
Glutaric aciduria type 3SUGCT
Glutathione S-transferase theta-1 defficiencyGSTT1
Glutathione synthetase deficiencyGSS
Glycerol kinase deficiencyGK
Glycine encephalopathyAMT
Glycine encephalopathyAMT
Glycine encephalopathyGCSH
Glycine encephalopathyGLDC
Glycine N-methyltransferase deficiencyGNMT
Glycogen storage disease of heart (lethal)PRKAG2
Glycogen storage disease type 0 muscleGYS1
Glycogen storage disease type 0GYS2
Glycogen storage disease type 1AG6PC
Glycogen storage disease type 1BSLC37A4
Glycogen storage disease type 1CSLC37A4
Glycogen storage disease type 2GAA
Glycogen storage disease type 3AGL
Glycogen storage disease type 4GBE1
Glycogen storage disease type 5PYGM
Glycogen storage disease type 6BPYGL
Glycogen storage disease type 7PFKM
Glycogen storage disease type 9APHKA2
Glycogen storage disease type 9BPHKB
Glycogen storage disease type 9CPHKG2
Glycogen storage disease type 10PGAM2
Glycogen storage disease type 11LDHA
Glycogen storage disease type 12ALDOA
Glycogen storage disease type 13ENO3
Glycogen storage disease type 14PGM1
Glycogen storage disease type 15GYG1
Glycoprotein Ia C807T polymorphismITGA2
Glycosylation disorde type 2AMGAT2
Glycosylation disorde type 2CSLC35C1
Glycosylation disorder type 1APMM2
Glycosylation disorder type 1BMPI
Glycosylation disorder type 1CALG6
Glycosylation disorder type 1CALG6
Glycosylation disorder type 1DALG3
Glycosylation disorder type 1EDPM1
Glycosylation disorder type 1EDPM1
Glycosylation disorder type 1FMPDU1
Glycosylation disorder type 1GALG12
Glycosylation disorder type 1HALG8
Glycosylation disorder type 1IALG2
Glycosylation disorder type 1JDPAGT1
Glycosylation disorder type 1JDPAGT1
Glycosylation disorder type 1KALG1
Glycosylation disorder type 1LALG9
Glycosylation disorder type 1MDOLK
Glycosylation disorder type 1MDOLK
Glycosylation disorder type 1NRFT1
Glycosylation disorder type 1ODPM3
Glycosylation disorder type 1SALG13
Glycosylation disorder type 1UDPM2
Glycosylation disorder type 2AMGAT2
Glycosylation disorder type 2BMOGS
Glycosylation disorder type 2CSLC35C1
Glycosylation disorder type 2DB4GALT1
Glycosylation disorder type 2DB4GALT1
Glycosylation disorder type 2ECOG7
Glycosylation disorder type 2ECOG7
Glycosylation disorder type 2FSLC35A1
Glycosylation disorder type 2FSLC35A1
Glycosylation disorder type 2GCOG1
Glycosylation disorder type 2GCOG1
Glycosylation disorder type 2HCOG8
Glycosylation disorder type 2HCOG8
Glycosylation disorder type 2ICOG5
Glycosylation disorder type 2JCOG4
Glycosylation disorder type 2KTMEM165
Glycosylation disorder type 2MSLC35A2
Glycosylation disorder type 3COG6
Glycosylation disorder type IRDDOST
Glycosylation disorder x-linkedSSR4
GM1-gangliosidosisGLB1
GM1-gangliosidosis type 1GLB1
GM1-gangliosidosis type 2GLB1
GM2-gangliosidosis type 2HEXB
Gnathodiaphyseal dysplasiaANO5
Goitre, multinodularKEAP1
Goldberg-Shprintzen megacolon syndromeKIF1BP
Gracile bone dysplasiaFAM111A
GRACILE syndromeBCS1L
Granulomatous disease, chronic, autosomal recessive, cytochrome b- positive, type 1NCF1
Granulomatous disease, chronic, autosomal recessive, cytochrome b- positive, type 1NCF1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negativeCYBA
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negativeCYBA
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2NCF2
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2NCF2
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3NCF4
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3NCF4
Granulomatous disease, chronic, X-linkedCYBB
Granulomatous disease, chronic, X-linkedCYBB
Greenberg skeletal dysplasiaLBR
Greenberg skeletal dysplasiaLBR
Greig cephalopolysyndactyly syndromeGLI3
Griscelli syndrome type 1MYO5A
Griscelli syndrome type 2RAB27A
Griscelli syndrome type 3MLPH
Growth hormone deficiencyGH1
Growth hormone deficiencyGHRHR
Growth hormone insensitivity with immunodeficiencySTAT5B
Growth hormone insensitivity, partialGHR
Growth retardation with deafness and mental retardation due to IGF1 deficiencyIGF1
Guanidinoacetate methyltransferase deficiencyGAMT
Guttmacher syndromeHOXA13
Guttmacher syndromeHOXA13
Gyrate atrophy of choroid and retina with or without ornithinemiaOAT
Haim-Munk syndromeCTSC
Hamamy syndromeIRX5
Hand-foot-uterus syndromeHOXA13
Hand-foot-uterus syndromeHOXA13
Hartnup disorderSLC6A19
Hartsfield syndromeFGFR1
HawkinsinuriaHPD
HDL deficiency, type 2ABCA1
Hearing loss, MAP1A relatedMAP1A
Hearing loss, MYH7B relatedMYH7B
Heart block, progressive, familial, type 1ASCN5A
Heart-hand syndrome, Slovenian typeLMNA
Heart-hand syndrome, Slovenian typeLMNA
Heimler syndrome type 1PEX1
Heimler syndrome type 1PEX1
Helsmoortel-van der Aa syndromeADNP
Hemangioblastoma, cerebellar, somaticVHL
Hemangioma capillary infantileANTXR1
Hemangioma, capillary infantile, familial, susceptibility toKDR
Hemochromatosis classicalHFE
Hemochromatosis type 2AHFE2
Hemochromatosis type 2BHAMP
Hemochromatosis type 3TFR2
Hemochromatosis type 4SLC40A1
Hemolytic anemia due to G6PD deficiencyG6PD
Hemolytic anemia due to G6PD deficiencyG6PD
Hemolytic anemia due to triosephosphate isomerase deficiencyTPI1
Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathyCD59
Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathyCD59
Hemolytic anemia, Kell-system relatedKEL
Hemolytic uremic syndromeCFB
Hemolytic uremic syndromeCFH
Hemolytic uremic syndromeCFHR1
Hemolytic uremic syndromeCFHR2
Hemolytic uremic syndromeCFHR3
Hemolytic uremic syndromeCFHR4
Hemolytic uremic syndromeCFHR5
Hemolytic uremic syndromeCFI
Hemolytic uremic syndromeTHBD
Hemolytic uremic syndrome, atypical type 2, susceptibility toCD46
Hemophagocytic lymphohistiocytosis type 2PRF1
Hemophagocytic lymphohistiocytosis type 3UNC13D
Hemophagocytic lymphohistiocytosis type 4STX11
Hemophagocytic lymphohistiocytosis type 5STXBP2
Hemophilia AF8
Hemophilia BF9
Hemorrhagic destruction of the brain, subependymal calcification, and cataractsJAM3
Hennekam lymphangiectasia-lymphedema syndrome type 1CCBE1
Hennekam lymphangiectasia-lymphedema syndrome type 2FAT4
Hepatic failure, early onset, and neurologic disorderSCO1
Hepatic venoocclusive disease with immunodeficiencySP110
Hepatic venoocclusive disease with immunodeficiencySP110
Hepatoblastoma, somaticAPC
Hepatocellular carcinoma, somaticCTNNB1
Hepatocellular carcinoma, somaticIGF2R
Hepatocellular carcinoma, somaticTP53
Hereditary breast and ovarian cancer syndrome, RAD50 relatedRAD50
Hereditary motor and sensory neuropathy, Okinawa typeTFG
Hereditary myopathy with early respiratory failureTTN
Hereditary persistence of fetal hemoglobinHBG2
Hereditary RetinoblastomaRB1
Hermansky Pudlak syndrome type 4HPS4
Hermansky-Pudlak syndrome type 1HPS1
Hermansky-Pudlak syndrome type 2AP3B1
Hermansky-Pudlak syndrome type 3HPS3
Hermansky-Pudlak syndrome type 5HPS5
Hermansky-Pudlak syndrome type 6HPS6
Hermansky-Pudlak syndrome type 7DTNBP1
Hermansky-Pudlak syndrome type 8BLOC1S3
Herpes simplex encephalitis type 2, susceptibility toTLR3
Heterotaxy, visceral type 1ZIC3
Heterotaxy, visceral type 2CFC1
Heterotaxy, visceral type 4ACVR2B
Heterotaxy, visceral type 5NODAL
Heterotaxy, visceral type 6CFAP53
Heterotaxy, visceral type 7MMP21
Heterotaxy, visceral, BCL9L relatedBCL9L
Heterotopia, periventricular, ED variantFLNA
Heterotopia, periventricular, X-linked dominantFLNA
Hippocampal longterm potentiation, RFN39 relatedRNF39
Hirschsprung diseaseECE1
Hirschsprung diseaseEDN3
Hirschsprung diseaseEDNRB
Hirschsprung diseaseKIF1BP
Hirschsprung diseaseNRG1
Hirschsprung diseaseNRTN
Hirschsprung diseaseRET
Hirschsprung diseaseZEB2
Hirschsprung disease, type 3, susceptibility toGDNF
Histiocytosis-lymphadenopathy plus syndromeSLC29A3
Holocarboxylase synthetase deficiencyHLCS
Holoprosencephaly type 2SIX3
Holoprosencephaly type 3SHH
Holoprosencephaly type 4TGIF1
Holoprosencephaly type 5ZIC2
Holoprosencephaly type 11CDON
Holoprosencephaly-type 9GLI2
Holt-Oram syndromeTBX5
HomocystinuriaMTHFR
Homocystinuria due to cystathionine beta-synthase deficiencyCBS
Homocystinuria-megaloblastic anemia, cbl E typeMTRR
Hoyeraal-Hreidarsson syndromeDKC1
HSAN1SPTLC1
HSAN2AWNK1
HSAN2BFAM134B
HSAN3IKBKAP
HSAN4NTRK1
HSAN5NGF
HSAN8PRDM12
HSN2CKIF1A
Huntington diseaseHTT
Huntington disease, ZDHHC17 relatedZDHHC17
Huntington disease-like type 1PRNP
Huntington disease-like type 2JPH3
Hurler syndromeIDUA
Hurler-Scheie syndromeIDUA
Hurthle cell thyroid carcinoma, due to germline NDUFA13 mutationNDUFA13
Hutchinson-Gilford progeriaLMNA
Hyaline fibromatosis syndromeANTXR2
Hydatidiform moleNLRP7
Hydatidiform mole, recurrent, type 2KHDC3L
Hydranencephaly with abnormal genitalia/Lissencephaly X-linked 2ARX
Hydranencephaly, Fowler typeFLVCR2
Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstractionL1CAM
Hydrocephalus, nonsyndromic, autosomal recessive type 1CCDC88C
Hydrocephalus, nonsyndromic, autosomal recessive type 2MPDZ
Hydrolethalus syndromeHYLS1
Hyperaldosteronism type 3KCNJ5
Hyperbilirubinemia, familial transient neonatalUGT1A1
Hyperbilirubinemia, Rotor typeSLCO1B1
Hyperbilirubinemia, Rotor typeSLCO1B3
Hypercalcemia infantile typeCYP24A1
HypercholanemiaBAAT
HypercholanemiaTJP2
Hypercholesterolemia autosomal dominant type 3PCSK9
Hypercholesterolemia autosomal recessiveLDLRAP1
Hypercholesterolemia due to LDL-receptor-disorder autosomal dominantLDLR
Hypercholesterolemia type B autosomanl dominantAPOB
Hyperchylomicronemia type 5APOA5
HyperekplexiaGLRA1
HyperekplexiaGLRB
HyperekplexiaSLC6A5
Hyperekplexia, EIEE8 relatedARHGEF9
Hypereosinophilic syndrome, idiopathic, resistant to imatinibPDGFRA
Hyperferritinemia-cataract syndromeFTL
Hyper-IgE recurrent infection syndromeSTAT3
Hyper-IgE recurrent infection syndrome, autosomal recessiveDOCK8
Hyperinsulinaemia, association with, G6PC2 relatedG6PC2
Hyperinsulinemic hypoglycemia type 1ABCC8
Hyperinsulinemic hypoglycemia type 2KCNJ11
Hyperinsulinemic hypoglycemia type 3GCK
Hyperinsulinemic hypoglycemia type 6GLUD1
Hyperinsulinemic hypoglycemia type 7SLC16A1
Hyperinsulinism, UCP2 relatedUCP2
Hyperkalemic periodic paralysisSCN4A
Hyperlipidemia, familial combined, susceptibility toUSF1
Hyperlipoproteinemia type 1LPL
Hyperlysinemia type 1AASS
Hypermanganesemia with dystonia, polycythemia and cirrhosisSLC30A10
Hypermethioninemia due to adenosine kinase deficiencyADK
Hypermethioninemia due to adenosine kinase deficiencyADK
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolaseAHCY
Hyperornithinemia- Hyperammonemia - Homocitrullinuria syndromeSLC25A15
Hyperoxaluria type 1AGXT
Hyperoxaluria type 2GRHPR
Hyperoxaluria type 3HOGA1
Hyperoxaluria, SLC26A6 relatedSLC26A6
Hyperparathyroidism type 1, familialCDC73
Hyperparathyroidism type 2, familialCDC73
Hyperparathyroidism, neonatal severeCASR
Hyperphenylalaninemia, BH4 deficient, type CQDPR
Hyperphenylalaninemia, BH4 deficient, type DPCBD1
Hyperphenylalaninemia, BH4-deficient, BGCH1
Hyperphenylalaninemia, BH4-deficient, type APTS
Hyperphosphatasia with mental retardation syndrome type 1PIGV
Hyperphosphatasia with mental retardation syndrome type 2PIGO
Hyperphosphatasia with mental retardation syndrome type 3PGAP2
Hyperphosphatasia with mental retardation syndrome type 4PGAP3
Hyperphosphatasia with mental retardation syndrome type 5PIGW
Hyperprolinemia type 1PRODH
Hypertension early onsetNR3C2
Hypertension, ADD2 relatedADD2
Hypertension, salt-sensitive essential, susceptibility toCYP3A5
Hypertriglyceridemia, susceptibility toLIPI
Hypertriglyceridemia, transient infantileGPD1
Hypertrophic osteoarthropathy type 1HPGD
Hypertrophic osteoarthropathy type 2SLCO2A1
Hyperuricemic nephropathy, familial juvenile type 1UMOD
Hypoaldosteronism congenital due to CMO I deficiencyCYP11B2
Hypoaldosteronism, congenital, due to CMO II deficiencyCYP11B2
HypoalphalipoproteinemiaAPOA1
Hypobetalipoproteinemia type 1APOB
Hypocalcemia, autosomal dominant 2GNA11
Hypocalcemia, autosomal dominant, with Bartter syndromeCASR
Hypocalciuric hypercalcemia, familial type 3AP2S1
Hypocalciuric hypercalcemia, type 1CASR
HypochondroplasiaFGFR3
Hypoglycemia of infancy, leucine-sensitiveABCC8
Hypogonadism, alopecia, Diabetes mellitus, mental retardation and extrapyramidal syndromeDCAF17
Hypogonadotropic hypogonadismKISS1R
Hypogonadotropic hypogonadismKISS1
Hypogonadotropic hypogonadismLHB
Hypogonadotropic hypogonadismNSMF
Hypogonadotropic hypogonadismNSMF
Hypogonadotropic hypogonadism type 3 with or without anosmiaPROKR2
Hypogonadotropic hypogonadism type 6 with or without anosmiaFGF8
Hypogonadotropic hypogonadism type 6 with or without anosmiaFGF8
Hypogonadotropic hypogonadism type 7 with or without anosmiaGNRHR
Hypogonadotropic hypogonadism type 10 with or without anosmiaTAC3
Hypogonadotropic hypogonadism type 11 with or without anosmiaTACR3
Hypogonadotropic hypogonadism type 12 with or without anosmiaGNRH1
Hypogonadotropic hypogonadism type 15 with or without anosmiaHS6ST1
Hypogonadtropic hypogonadism type 14WDR11
Hypoinsulinemic hypoglycemia with hemihypertrophyAKT2
Hypokalemic periodic paralysis type 1CACNA1S
Hypomagnesemia type 1TRPM6
Hypomagnesemia type 2FXYD2
Hypomagnesemia type 3CLDN16
Hypomagnesemia type 4EGF
Hypomagnesemia type 5CLDN19
Hypomagnesemia type 6CNNM2
Hypomyelination with brainstem and spinal cord involvement and leg spasticityDARS
HypoparathyroidismPTH
Hypoparathyroidism, familial isolatedGCM2
Hypoparathyroidism, sensorineural deafness, and renal dysplasiaGATA3
Hypoparathyroidism-retardation-dysmorphism syndromeTBCE
Hypophosphatasia, adultALPL
Hypophosphatasia, childhoodALPL
Hypophosphatasia, infantileALPL
Hypophosphatemic ricketsCLCN5
Hypophosphatemic rickets with hypercalciuriaSLC34A3
Hypophosphatemic rickets with hypercalciuriaSLC34A3
Hypophosphatemic rickets, autosomal dominantFGF23
Hypophosphatemic rickets, autosomal dominantFGF23
Hypophosphatemic rickets, autosomal recessive type 1DMP1
Hypophosphatemic rickets, autosomal recessive type 2ENPP1
Hypophosphatemic rickets, X-linkedPHEX
Hypospadias type 1, X-linkedAR
Hypospadias type 1, X-linkedAR
Hypospadias type 2, X-linkedMAMLD1
Hypospadias type 2, X-linkedMAMLD1
Hypothyroidism congenital nongoitrous type 1TSHR
Hypothyroidism congenital nongoitrous type 2, familialPAX8
Hypothyroidism congenital nongoitrous type 4TSHB
Hypothyroidism congenital nongoitrous type 6THRA
Hypothyroidism, isolated, TRHR relatedTRHR
Hypotonia-cystinuria syndromePREPL
Hypotrichosis type 1APCDD1
Hypotrichosis type 2CDSN
Hypotrichosis type 3KRT74
Hypotrichosis type 4HR
Hypotrichosis type 6DSG4
Hypotrichosis type 7LIPH
Hypotrichosis type 8LPAR6
Hypotrichosis type 11SNRPE
Hypotrichosis type 12RPL21
Hypotrichosis type 13KRT71
Hypotrichosis-lymphedema-telangiectasia syndromeSOX18
Hypouricemia, renal type 1SLC22A12
Hypouricemia, renal type 1SLC22A12
Hypouricemia, renal type 2SLC2A9
Hypouricemia, renal type 2SLC2A9
Ichthyosiform erythroderma, congenital, nonbullous type 1ALOXE3
Ichthyosiform erythroderma, congenital, nonbullous type 1NIPAL4
Ichthyosis congenital, autosomal recessive, PNPLA1 relatedPNPLA1
Ichthyosis congenital, Harlequin fetus typeABCA12
Ichthyosis follicularis, atricia, and photophobia syndromeMBTPS2
Ichthyosis prematurity syndromeSLC27A4
Ichthyosis vulgarisFLG
Ichthyosis, bullous typeKRT2
Ichthyosis, congenital, autosomal recessive type 1TGM1
Ichthyosis, congenital, autosomal recessive, type 2ALOX12B
Ichthyosis, congenital, autosomal recessive, type 9CERS3
Ichthyosis, congenital, autosomal recessive, type 11ST14
Ichthyosis, lamellar type 2ABCA12
Ichthyosis, lamellar type 3CYP4F22
Ichthyosis, lamellar type 4LIPN
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitisCLDN1
Ichthyosis, spastic quadriplegia, and mental retardationELOVL4
Ichthyosis, X-linkedSTS
IDH1, selective sequencing of exon 4IDH1
IDH2, selective sequencing of exon 4IDH2
IMAGE syndromeCDKN1C
Immunodeficiency common variable type 1ICOS
Immunodeficiency common variable type 2TNFRSF13B
Immunodeficiency common variable type 3CD19
Immunodeficiency common variable type 4TNFRSF13C
Immunodeficiency common variable type 6CD81
Immunodeficiency common variable type 8LRBA
Immunodeficiency common variable type 10NFKB2
Immunodeficiency due to defect in MAPBP-interacting proteinLAMTOR2
Immunodeficiency due to purine nucleoside phosphorylase deficiencyPNP
Immunodeficiency type 2, with hyper-IgMAICDA
Immunodeficiency type 3, with hyper-IgMCD40
Immunodeficiency type 5, with hyper IgMUNG
Immunodeficiency type 8CORO1A
Immunodeficiency type 9ORAI1
Immunodeficiency type 10STIM1
Immunodeficiency type 11CARD11
Immunodeficiency type 12MALT1
Immunodeficiency type 14PIK3CD
Immunodeficiency type 15IKBKB
Immunodeficiency type 18CD3E
Immunodeficiency type 19CD3D
Immunodeficiency type 21GATA2
Immunodeficiency type 22LCK
Immunodeficiency type 24CTPS1
Immunodeficiency type 25CD247
Immunodeficiency type 26, with or without neurologic abnormalitiesPRKDC
Immunodeficiency type 32A, mycobacteriosis, autosomal dominantIRF8
Immunodeficiency type 32B, monocyte and dendritic cell deficiency, autosomal recessiveIRF8
Immunodeficiency type 34CYBB
Immunodeficiency type 35TYK2
Immunodeficiency type 36PIK3R1
Immunodeficiency type 38ISG15
Immunodeficiency with natural killer cell deficiencyMCM4
Immunodeficiency, common variable type 7CR2
Immunodeficiency, isolatedIKBKG
Immunodeficiency, primary, autosomal recessive, IL21R-relatedIL21R
Immunodeficiency, X-linked with hyper-IgMCD40LG
Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasiaMAGT1
Immunodeficiency-centromeric instability-facial anomalies syndrome type 1DNMT3B
Immunodeficiency-centromeric instability-facial anomalies syndrome type 2ZBTB24
Immunodeficiency-centromeric instability-facial anomalies syndrome type 2ZBTB24
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linkedFOXP3
Immunological disorder, PECAM1 relatedPECAM1
Immunological disorder, PICALM relatedPICALM
Inclusion body myopathyGNE
Inclusion body myopathyMYH2
Incontinentia pigmenti type 2IKBKG
Infantile liver failure syndrome type 2NBAS
Infantile neuroaxonal dystrophy type 1PLA2G6
Inflammatory bowel disease type 13ABCB1
Inflammatory skin and bowel disease, neonatal, type 1ADAM17
Insensitivity to pain, channelopathy-associatedSCN9A
Insulin-like growth factor resistanceIGF1R
Intellectual disability nonsyndromic, CIC relatedCIC
Intellectual disability nonsyndromic, CNKSR2 relatedCNKSR2
Intellectual disability, TBR1 relatedTBR1
Interleukin 2 receptor deficiencyIL2RA
Interleukin 12A deficiencyIL12A
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenitalITGA3
Interstitial nephritis karyomegalicFAN1
Intestinal atresia, multipleTTC7A
Intestinal pseudoobstraction, neuronalFLNA
Intrahepatic cholestasis of pregnancy, NR1H4 relatedNR1H4
Intrinsic factor deficiencyGIF
Invasive pneumococcal disease, recurrent isolated type 1IRAK4
Invasive pneumococcal disease, recurrent isolated type 2IKBKG
IRAK4 deficiencyIRAK4
Iridogoniodysgenesis type 1FOXC1
Iron-refractory iron deficiency anemiaTMPRSS6
Isobutyryl-CoA dehydrogenase deficiencyACAD8
Isovaleric acidemiaIVD
IVIC syndromeSALL4
Jackson-Weiss syndromeFGFR1
Jackson-Weiss syndromeFGFR2
JAK2, selective sequencing of exons 12, 14 and 16JAK2
Jalili syndromeCNNM4
Jawad syndromeRBBP8
Jensen syndromeTIMM8A
Jervell and Lange-Nielsen syndrome type 1KCNQ1
Jervell and Lange-Nielsen syndrome type 2KCNE1
Johanson Blizzard syndromeUBR1
Joubert syndrome type 1INPP5E
Joubert syndrome type 2TMEM216
Joubert syndrome type 3AHI1
Joubert syndrome type 4