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Gene Disease research area PGD-SEQ Panel Cat. No.
10q22.1 Chromosomic region BA07046
10q26 Chromosomic region BA06839
11pter Chromosomic region BA07049
12q15 12q15 deletion syndrome BA07009
12q24.33 12q24.33 duplication syndrome BA06787
15q11 Duplication of 15q 11 region BA06171
15q11.2 Deletion 15q11.2 (PWS/AS region) BA05211
15q13.3 Chromosome 15q13.3 microdeletion syndrome BA06830
15q26.3 15q26.3 deletion syndrome BA06997
16p11.2 16p11.2 microduplication BA06349
16p13.11 Chromosome 16p13.11 duplication syndrome BA06646
17q12 17q12 deletion syndrome BA07000
1p36 Chromosomic region BA06838
1q21.1 1q21.1 microdeletion BA06166
1q21.1 Chromosomic region BA07508
22q11.1 Chromosome 22q11.1q11.21 duplication BA07030
22q11.2 22q11.2 deletion syndrome BA06996
2p25.3 2p25.3 duplication syndrome BA06909
2q13 Chromosomic region BA07053
4q35 Chromosomic region BA07537
5p Cri-du-chat syndrome BA05200
6q15 Chromosomic region BA07540
9q13 Chromosomic region BA07541
ABCA12 Ichthyosis, congenital BA06672
ABCA3 Pulmonary surfactant dysfunction due to ABCA3 deficiency BA04838
ABCA4 Stargardt disease 1 BA06784
ABCB11 Progressive familial intrahepatic cholestasis BA04362
ABCB4 Intrahepatic cholestasis type 3 BA04764
ABCC6 Pseudoxanthoma elasticum BA06189
ABCC8, KCNJ11 Neonatal diabetes mellitus BA05212
ABCD1 Adrenoleukodystrophy X-Linked BA03825
ABCD1 + HLA Adrenoleukodystrophy and HLA histocompatibility BA06985
ABCG5 Sitosterolemia BA04913
ABCG8 Sitosterolemia 1 BA06185
ACADM Medium-chain acyl-CoA dehydrogenase deficiency BA03798
ACADS Short-chain acyl-CoA dehydrogenase (SCAD) deficiency BA04918
ACADVL Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency BA04572
ACE Renal tubular dysgenesis BA06998
ACSF3 Combined malonic and methylmalonic aciduria BA06642
ACTA2 Aortic aneurysm, familial thoracic 6 BA06160
ACTG2 Visceral myopathy 1 BA06866
ACVRL1 Telangiectasia, hereditary hemorrhagic, type 2 BA06174
ADA Adenosine deaminase deficiency BA04965
ADAR Aicardi-Goutières syndrome 6 BA06637
ADAT3 Mental retardation BA04633
ADCY10 + DSTYK Hypercalciuria and SPG23 BA07061
ADGRG1 Polymicrogyria, bilateral frontoparietal BA06030
ADGRV1 Usher syndrome, type 2C BA06680
AFF2 Intellectual developmental disorder BA07057
AFG3L2 Spinocerebellar ataxia 28 BA06796
AGL Glycogen storage disease type III BA04582
AGRN Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects BA07039
AGTPBP1 Neurodegeneration, childhood-onset, with cerebellar atrophy BA07516
AGXT Hyperoxaluria, primary, type 1 BA06927
AHI1 Joubert syndrome 3 BA06167
AIMP2 Progressive neurodevelopmental disorder BA04406
AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia BA07502
ALDOB Fructose intolerance BA07006
ALG13 Developmental and epileptic encephalopathy 36 BA07505
ALG3 Congenital disorder of glycosylation, type Id BA07531
ALMS1 Alstrom syndrome BA06883
ALOX12B Self-healing collodion baby BA05145
ALPL Hypophosphatasia BA04804
ALS2 Amyotrophic lateral sclerosis (ALS) BA04383
AMER1 Osteopathia striata with cranial sclerosis BA06915
AMER1 Osteopathia striata with cranial sclerosis BA07036
AMT Glycine encephalopathy 2 BA06984
ANOS1 Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) BA07020
ANTXR2 Hereditary systemic hyalinosis BA04277
ANXA5 Susceptibility to/recurrent pregnancy loss BA06923
AP4M1 Spastic paraplegia BA05918
APC Familial adenomatous polyposis (FAP) BA04820
APOB Hypercholesterolemia, familial, 2 BA06921
APRT Adenine phosphoribosyltransferase deficiency BA06044
AR Kennedy disease BA04573
ARHGEF9 Developmental and epileptic encephalopathy 8 BA06833
ARSA Metachromatic leukodystrophy BA06858
ARSB Mucopolysaccharidosis type VI BA04916
ARSE Chondrodysplasia punctata, X-linked recessive BA06920
ASL Argininosuccinic Aciduria BA04901
ASPM Autosomal recessive primary microcephaly (ASPM) BA05133
ATAD3A Harel-Yoon syndrome BA06512
ATL1 Spastic paraplegia type 3A BA03838
ATM Ataxia-telangiectasia BA05916
ATN1 Dentatorubral-pallidoluysian atrophy BA07019
ATP2A2 Darier disease BA06187
ATP7B Wilson disease BA06350
ATRX Mental retardation-hypotonic facies syndrome, X-linked BA06162
ATXN1 Spinocerebellar ataxia type 1 BA04402
ATXN2 Spinocerebellar ataxia type 2 BA04385
ATXN3 Spinocerebellar ataxia 3 BA05919
ATXN-7 Spinocerebellar ataxia 7 BA06348
ATXN8OS Spinocerebellar ataxia 8 BA06792
B3GALNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11) BA06444
BBS1 Bardet-Biedl syndrome 1 BA06505
BBS10 Bardet-Biedl syndrome 10 BA03799
BBS4 Bardet-Biedl syndrome 4 BA04384
BCHE Butyrylcholinesterase deficiency BA06840
BCKDHB Maple syrup urine disease, type Ib BA06048
BEST1 Vitelliform macular dystrophy BA05246
BMPR1A Polyposis, juvenile intestinal BA06899
BRAT1 Neurodevelopmental disorder with cerebellar atrophy BA06864
BRCA1 Breast-ovarian cancer syndrome BA04576
BRCA2 Breast-ovarian cancer syndrome 2 BA04603
BRIP1 Fanconi anemia BA05131
BSCL2 Spastic paraplegia BA04575
BSND Bartter syndrome, type 4a BA07073
BTD Biotinidase deficiency BA06508
BTK X-linked agammaglobulinemia (XLA) BA04964
C12orf57 Temtamy syndrome BA04655
C9orf72 Frontotemporal dementia and/or ALS 1 BA06172
CA5A Hyperammonemia due to carbonic anhydrase VA deficiency BA07513
CACAN1A Developmental and epileptic encephalopathy 42 BA06836
CACNA1A Spinocerebellar ataxia 6 (SCA6) BA06170
CACNA1S Hypokalemic periodic paralysis, type 1 BA06169
CAPN3 Muscular dystrophy, limb-girdle BA06645
CASR Hyperparathyroidism, neonatal BA07534
CBS Homocystinuria BA06639
CC2D2A COACH syndrome 2 BA06919
CCM2 Cerebral cavernous malformations BA04821
CDH1 Diffuse gastric and lobular breast cancer BA06671
CENPJ Microcephaly BA04386
CEP290 Meckel-Gruber syndrome BA04578
CFTR Cystic fibrosis BA03800
CHEK2 Susceptibility to breast cancer BA05683
CHM Choroideremia BA04388
CHRNE Myasthenic syndrome, congenital BA06835
CHRNG Multiple pterygium syndrome BA05363
CLCN1 Myotonia congenita BA04569
CLCN5 Dent disease 1 BA06182
CLDN19 Hypomagnesemia 5, renal, with ocular involvement BA06506
CLN3 CLN3 disease BA04914
CNBP Myotonic dystrophy 2 BA06360
CNGA3 Achromatopsia 2 BA06841
COG5 COG5-congenital disorder of glycosylation BA06829
COG6 Congenital disorder of glycosylation, type IIl BA06424
COG8 Congenital disorder of glycosylation, type IIh BA07521
COL10A1 Metaphyseal chondrodysplasia, Schmid type BA07062
COL11A1 Stickler syndrome BA03802
COL12A1 COL12A1 disorder-related BA06884
COL1A1 Osteogenesis imperfecta (COL1A1) BA03803
COL1A1 Osteogenesis imperfecta BA06168
COL1A2 Osteogenesis Imperfecta (COL1A2) BA05143
COL2A1 Spondyloepiphyseal dysplasia BA03804
COL3A1 Ehlers-Danlos syndrome, vascular type BA06513
COL4A3 Alport syndrome 2 BA06656
COL4A4 Alport syndrome 2, autosomal recessive BA06837
COL4A5 Alport syndrome BA04824
COL5A2 Ehlers-Danlos syndrome BA07042
COL6A1 Ullrich myopathy BA04658
COL6A2 Ullrich congenital muscular dystrophy 1 BA06670
COL6A3 Ullrich congenital muscular dystrophy 1 BA06799
COL7A1 Dystrophic epidermolysis bullosa BA04604
COMP Carpal tunnel syndrome 2 BA06832
COQ4 Primary coenzyme Q10 deficiency BA04622
CPABPN1 Oculopharyngeal muscular dystrophy BA06507
CPLANE1 (C5orf42) Joubert syndrome BA04632
CPS1 Carbamoyl phosphate synthetase I deficiency BA06791
CPT2 CPT II deficiency BA07532
CRB1 Retinitis pigmentosa BA06653
CSF1R Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) BA04389
CSTB Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) BA07005
CYP1B1 Early-onset glaucoma BA04921
CYP21A2 Congenital adrenal hyperplasia BA03805
CYP21A2 + HLA Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency and HLA compatibility BA07050
D4Z4 Facioscapulohumeral muscular dystrophy (FSHD) BA03806
DCAF17 (C2orf37) Woodhouse-Sakati syndrome BA04904
DCX Lissencephaly, X-linked BA07528
DEAF1 Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures BA06458
DelXq24 Intellectual developmental disorder, X-linked syndromic, Cabezas type BA07026
DEPDC5 Developmental and epileptic encephalopathy 111 BA07029
DES Cardiomyopathy, dilated, 1I BA06159
DHCR7 Smith-Lemli-Opitz syndrome BA06356
DMD Duchenne muscular dystrophy BA03807
DMPK Steinert disease (Myotonic dystrophy type 1) BA03808
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus BA06442
DNAH5 Primary ciliary dyskinesia/heterotaxy BA04736
DNAI2 Ciliary dyskinesia, primary, 9 BA04966
DPYD Dihydropyrimidine dehydrogenase deficiency BA06674
DPYD 5-Fluorouracil toxicity BA07069
DSP Cardiomyopathy BA06848
DSPP Dentin dysplasia, type II BA07010
DUOX2 Thyroid dyshormonogenesis 6 BA06650
DYNC2H1 Jeune syndrome BA03809
DYSF Muscular dystrophy, limb-girdle, autosomal recessive 2 BA06982
ECEL1 Distal arthrogryposis type 5D BA04898
ECHS1 Mitochondrial syndrome BA04605
ECM1 Lipoid proteinosis BA04732
EDA Hypohidrotic ectodermal dysplasia BA04390
ELAC2 Hypertrophic cardiomyopathy BA04659
ELANE Neutropenia, severe congenital 1 BA06514
ELN Supravalvular aortic stenosis and cutis laxa BA06888
ELP1 Dysautonomia, familial BA06658
ELP2 Intellectual developmental disorder, autosomal recessive 58 BA06925
EMD Emery-Dreifuss muscular dystrophy 1, X-linked BA06824
ENG Telangiectasia, hereditary hemorrhagic, type 1 BA06173
ENPP1 Cole disease BA07051
EPCAM Lynch syndrome 8 BA06895
EPG5 Vici syndrome BA07071
ERCC8 Cockayne syndrome, type A BA06358
ERF Craniosynostosis BA05137
ETFDH Glutaric acidemia type II BA05205
EVC, EVC2 Ellis-van Creveld syndrome BA03811
EXT1 Exostoses type 1 BA03812
EXT2 Exostoses type 2 BA03813
EYA1 Branchiootic syndrome 1 BA06907
EYS Retinitis pigmentosa 25 BA06931
F11 Factor XI deficiency, autosomal recessive BA06904
F12 Hereditary angioedema type 3 BA06165
F2 Thrombophilia 1 due to thrombin defect BA06789
F5 Factor V deficiency BA06638
F8 Hemophilia A BA03814
F9 Hemophilia B BA06183
FA2H Spastic paraplegia 35, autosomal recessive BA07522
FAM161A Retinitis pigmentosa 1 BA06865
FAM83H Amelogenesis imperfecta, type IIIA BA06790
FANCA Fanconi anemia BA05548
FARS2 Combined oxidative phosphorylation deficiency 14 BA06823
FBN1 Marfan syndrome BA03815
FGA Hereditary renal amyloidosis BA04967
FGF10 Aplasia of lacrimal and salivary glands BA06981
FGF8 Hypogonadotropic hypogonadism 6 with or without anosmia BA06825
FGFR1 Hypogonadotropic hypogonadism 2 with or without anosmia BA06786
FGFR2 Crouzon syndrome BA05551
FGFR3 Achondroplasia BA04391
FH Hereditary leiomyomatosis and renal cell cancer (HLRCC) BA04606
FKRP FKRP-related muscular dystrophy BA05154
FLCN Birt-Hogg-Dube syndrome BA06648
FLG Ichthyosis vulgaris BA05333
FLNC Cardiomyopathy, familial hypertrophic, 26 BA06667
FMR1 Fragile X BA03816
FOXC2 Lymphedema-distichiasis syndrome BA07546
FOXL2 Blepharophimosis, epicanthus inversus, and ptosis BA07503
FOXP3 Immunodysregulation, polyendocrinopathy, and enteropathy BA07038
FREM1 Manitoba oculotrichoanal syndrome BA07529
FTCD Glutamate formiminotransferasa deficiency BA06886
FUS Amyotrophic lateral sclerosis (ALS) BA03817
FY Blood group, Duffy system BA06994
G6PC1 Glycogen storage disease Ia BA07067
G6PD Glucose-6-phosphate dehydrogenase deficiency BA05547
GAA Glycogen storage disease II BA06504
GABBR2 Developmental and epileptic encephalopathy 59 BA07024
GALC Krabbe disease BA04549
GALNS Mucopolysaccharidosis IV BA03818
GALT Galactosemia BA04574
GATA1 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia BA07493
GBA Gaucher disease BA05206
GBE1 Glycogen storage disease IV BA06438
GCDH Glutaric acidemia type I BA05220
GCH1 Dystonia, DOPA-responsive BA06161
GDAP1 Charcot-Marie-Tooth disease BA07494
GHR Growth hormone insensitivity BA06804
GIPC3 Oculopharyngodistal myopathy 2 BA07033
GJA1 Oculodentodigital dysplasia BA03819
GJA5 Atrial fibrillation, familial, 11 BA07500
GJA8 Cataract BA05364
GJB1 Charcot-Marie-Tooth neuropathy 1 BA06654
GJB2 Nonsyndromic hearing Loss, DFNB1/DFNA3 BA05207
GJB6 Deafness BA06822
GLA Fabry disease BA06679
GLB1 GM1 ganglioside BA04654
GLDC Glycine encephalopathy BA04657
GNAS Pseudohypoparathyroidism 1A BA06666
GNE Nonaka myopathy BA06657
GNPAT Rhizomelic chondrodysplasia punctata, type 2 BA06353
GNRHR Hypogonadotropic hypogonadism 7 without anosmia BA06844
GORAB Geroderma osteodysplasticum BA06050
GP1BA Bernard-Soulier syndrome BA07519
GPC3 Simpson-Golabi-Behmel syndrome, type 1 BA06928
GREB1L Deafness, autosomal dominant 80 BA07525
GRIA3 Intellectual developmental disorder BA04653
GRIN1 Developmental and epileptic encephalopathy 101 BA07068
GRN Frontotemporal lobar degeneration with ubiquitin-positive inclusions BA06186
GSDME Deafness, autosomal dominant 5 BA07501
GUCY2D Night blindness, congenital stationary BA07520
HADHA Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency BA05288
HBA1, HBA2 Alpha thalassemia BA03864
HBB Beta thalassemia BA03820
HBB, HLA Beta thalassemia and histocompatibility BA04819
HBB + HBA 1-2 Beta thalassemia and alpha thalassemia BA05549
HEXA Tay-Sachs disease BA03822
HEXB Sandhoff disease, infantile, juvenile, and adult forms BA06184
HFE Hereditary hemochromatosis type 1 BA05684
HLA Histocompatibility BA03823
HMGCL HMGCL deficiency BA04725
HNF1A Diabetes mellitus insulin-dependent BA06788
HNF1B Renal cysts and diabetes syndrome BA04392
HPA 1, 5 and 15 Human platelet antigen system 1, 5 and 15 BA06891
HPRT1 Lesch-Nyhan syndrome BA05685
HTT Huntington BA03821
HUWE1 Intellectual developmental disorder, X-linked syndromic, Turner type BA07007
IDS Mucopolysaccharidosis type II (MPS II–Hunter syndrome) BA04681
IDUA Mucopolysaccharidosis type I (MPS I) BA05168
IFITM5 Osteogenesis imperfecta, type V BA06685
IGFALS Deficiency of acid-labile subunit BA06802
IGHMBP2 Charcot-Marie-Tooth disease, axonal, type 2S BA07035
IKBKG Incontinentia pigmenti BA05536
IL2RG X-linked combined immunodeficiency BA03824
IL7R Immunodeficiency 104, severe combined BA06916
INS Diabetes mellitus, insulin-dependent, 2 BA07538
inv9p12q13 Inversion (9)(p12q13) BA07499
IRF6 Popliteal pterygium syndrome 1 BA06669
ITGA2B Glanzmann thrombasthenia BA04634
ITPA Developmental and epileptic encephalopathy 35 BA07037
IVD Isovaleric acidemia BA06798
JAK3 SCID, T-negative/B-positive type BA07028
KCNA1 Episodic ataxia/myokymia syndrome BA06889
KCNA2 Developmental and epileptic encephalopathy 32 BA06898
KCNH2 Short QT syndrome BA04825
KCNH2 Short QT syndrome BA07545
KCNQ1 Long QT syndrome 1 BA06664
KCNT1 KCNT1-Related epilepsy BA05139
KDM6A Kabuki syndrome BA05135
KEL Kell Blood group BA06855
KIF1C Spastic ataxia 2, autosomal recessive BA06440
KIF21A Fibrosis of extraocular muscles BA06682
KMT2B Dystonia 28, childhood-onset BA05921
KMT2D Kabuki syndrome (KMT2D) BA05208
KRT10 Epidermolytic hyperkeratosis BA07514
KRT14 Epidermolysis bullosa simplex (KRT14) BA05366
KRT17 Pachyonychia congenita 2 BA07518
KRT5 Epidermolysis bullosa simplex (KRT5) BA05365
KRT9 Palmoplantar keratoderma, epidermolytic BA06665
L1CAM Hydrocephalus BA04382
LAMA2 LAMA2-related muscular dystrophy BA04588
LAMA3 Epidermolysis bullosa BA04584
LAMB3 Junctional epidermolysis bullosa BA03826
LARP7 Alazami syndrome BA06991
LARP7 Alazami syndrome BA07536
LCA5 Leber congenital amaurosis 5 BA06803
LCK Immunodeficiency 22 BA07511
LDB3 Cardiomyopathy, hypertrophic, 24 BA06926
LDLR Hypercholesterolemia familial 1 BA05687
LEPR Obesity, morbid, due to leptin receptor deficiency BA06662
LIPH Autosomal recessive hypotrichosis BA04726
LMNA Dilated cardiomyopathy BA03827
LNPK Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum BA06924
LOXHD1 Deafness, autosomal recessive 77 BA07551
LRP4 Cenani-Lenz syndactyly syndrome BA06849
LTBP2 Microspherophakia and/or megalocornea BA07512
LZTR1 Noonan syndrome 10 BA07031
MAP3K7 Cardiospondylocarpofacial syndrome BA07056
MATN3 Epiphyseal dysplasia, multiple, 5 BA06180
MBD5 Intellectual developmental disorder, autosomal dominant 1 BA07034
MC2R Glucocorticoid deficiency due to ACTH unresponsiveness BA07059
MCCC2 3-methylcrotonyl-CoA carboxylase 2 deficiency BA05552
MED12 Opitz-Kaveggia syndrome BA07495
MEFV Familial Mediterranean fever BA06641
MEN1 Multiple endocrine neoplasia BA03829
METTL5 Intellectual developmental disorder, autosomal recessive 72 BA07509
MFN2 Charcot-Marie-Tooth disease type 2A2 BA06785
MKS1 Meckel Gruber syndrome BA04403
MLH1 Mismatch repair cancer syndrome BA06139
MLH1 Mismatch repair cancer syndrome BA06139
MMAB Methylmalonic Acidemia BA04899
MMACHC Methylmalonic aciduria and homocystinuria, cblC type BA06678
MMP21 Heterotaxy, visceral, 7, autosomal BA06821
MNX1 Currarino syndrome BA07070
MPDZ Hydrocephalus, congenital, 2 BA05367
MPZ (CMT1B) Charcot-Marie-Tooth type 1B BA03801
MSH2 Lynch syndrome BA03828
MSH6 Hereditary colorectal cancer BA06352
MSH6 Hereditary colorectal cancer BA06352
MTHFR Homocystinuria BA06188
MTM1 Centronuclear myopathy BA06860
MTOR Smith-Kingsmore syndrome BA06910
MTR Homocystinuria-megaloblastic anemia BA06862
MTTL1 MELAS syndrome BA06362
MUC1 Tubulointerstitial kidney disease, autosomal dominant, 2 BA07517
MUTYH Adenomas, multiple colorectal BA06854
MYBPC3 Hypertrophic cardiomyopathy BA04393
MYBPC3, PLN Hypertrophic cardiomyopathy BA07047
MYH7 Miopathy BA04394
MYL2 Hypertrophic cardiomyopathy 10 BA06503
MYO7A Deafness, autosomal dominant 11 BA06027
NAGA Kanzaki disease BA06988
NBAS Infantile liver failure syndrome 2 BA06903
NDUFA4 Mitochondrial complex IV deficiency, nuclear type 21 BA07048
NDUFS8 Mitochondrial complex I deficiency, nuclear type 2 BA06054
NEB Arthrogryposis multiplex congenita 6 BA06831
NEXN Cardiomyopathy, dilated, 1CC BA06986
NF1 Neurofibromatosis type 1 BA04577
NFKB1 Immunodeficiency, common variable, 12 BA07016
NFU1 Multiple mitochondrial dysfunctions syndrome 1 BA07003
NKX2-5 Atrial septal defect 7, with or without AV conduction defects BA07043
NLGN4X Intellectual developmental disorder BA07054
NOG Multiple synostoses syndrome 1 BA06058
NOTCH1 Adams-Oliver syndrome 5 BA07004
NOTCH3 CADASIL BA03830
NPC1 Niemann-Pick disease (NPC1) BA05242
NPHP1 Joubert syndrome 4 BA06834
NPHP3 Meckel syndrome 7 BA07063
NPHS2 Nephrotic syndrome, type 2 BA05209
NPPA Atrial fibrillation, familial BA05368
NR2E3 Enhanced S-cone syndrome BA06827
NSD1 Sotos syndrome BA04905
NUBPL Mitochondrial complex I deficiency, nuclear type 21 BA06039
OCA2 Albinism BA06843
OCRL Lowe syndrome BA07530
OFD1 Joubert syndrome 10 BA07535
OPA1 Mitochondrial DNA depletion syndrome 14 BA07064
OPN1MW Blue cone monochromacy BA07027
OSTM1 Osteopetrosis, AR 5 BA04730
OTC Ornithine transcarbamylase deficiency BA03831
OTOA Deafness, autosomal recessive 22 BA07001
OTOF DFNB9 nonsyndromic hearing loss BA04822
OTX2 Microphthalmia, syndromic 5 BA06828
P3H1 Osteogenesis imperfecta, type VIII BA06826
PAH Pulmonary arterial hypertension BA05550
PALB2 Susceptibility to breast and pancreatic cancer BA06683
PAX6 Aniridia BA04395
PAX9 Tooth agenesis, selective, 3 BA06651
PCCB Propionicacidemia BA07055
PCNT Microcephalic osteodysplastic primordial dwarfism, type II BA06510
PDCD10 Cerebral cavernous malformation BA06999
PDE6C Achromatopsia/cone-rod dystrophy BA04735
PEPD Prolinasa deficiency BA06782
PEX1 Peroxisome biogenesis disorder 1A (Zellweger) BA06500
PEX16 Zellweger syndrome BA04579
PEX2 Zellweger syndrome (PEX2) BA05369
PHEX Hypophosphatemic rickets BA04571
PHKA2 Glycogen storage disease, type IXa2 BA07008
PHKB Glycogen storage disease type IX BA04727
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema BA07526
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3 BA06644
PKD1 Polycystic kidney disease 1 BA03832
PKD2 Polycystic kidney disease 2 BA03833
PKHD1 Polycystic kidney disease AR BA03834
PKLR Pyruvate kinase deficiency BA06781
PKP2 Arrhythmogenic right ventricular dysplasia 9 BA05920
PLA2G6 Neurodegeneration with brain iron accumulation 2B BA06652
PLP1 Pelizaeus-Merzbacher disease BA04404
PMM2 Congenital disorder of glycosylation BA04387
PMP22 (CMT1A) Charcot-Marie-Tooth type 1A and 1E BA04396
PMS2 Lynch syndrome 4 BA06675
PNKP Charcot-Marie-Tooth disease, type 2B2 BA06163
POC1A Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis BA06433
POLD1 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome BA06453
POLG Alpers-Huttenlocher syndrome BA05170
POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 BA06427
POMGNT2 Walker-Warburg syndrome BA04656
POMK Muscular dystrophy-dystroglycanopathy BA03785
POMT1 Muscular dystrophy-dystroglycanopathy BA06851
POMT2 Muscular dystrophy-dystroglycanopathy BA07058
PPP1R21 Decreased viability BA06034
PPP2R2B Spinocerebellar ataxia 12 BA06359
PRF1 Lymphoma, non-Hodgkin BA06668
PRF1 Aplastic anemia BA07527
PRKG1 Aortic aneurysm, familial thoracic BA05370
PRODH Hyperprolinemia, type I BA07021
PRPH2 Stargardt disease BA04607
PRRT2 Convulsions, familial infantile, with paroxysmal choreoathetosis BA06686
PTCH1 Basal cell nevus syndrome 1 BA07492
PTEN Cowden syndrome 1 BA06911
PTF1A Pancreatic agenesis 2 BA04922
PTH1R Chondrodysplasia, Blomstrand type BA07506
PTPN11 Metachondromatosis BA06929
RAB3GAP1 RAB18 deficiency BA04728
RAD21 Cornelia de Lange syndrome 4 BA06901
RAD51C Susceptibility to breast-ovarian cancer, familial BA06673
RAD51C Susceptibility to breast-ovarian cancer BA06863
RAG1 Combined immunodeficiency due to RAG1 deficiency BA05147
RAG2 Omenn syndrome BA05210
RAPSN Fetal akinesia deformation sequence 2 BA06661
RARS2 Pontocerebellar hypoplasia, type 6 BA06913
RASPN Fetal akinesia deformation sequence 2 BA06181
RB1 Retinoblastoma BA04586
RBM8A Thrombocytopenia-absent radius syndrome BA06793
RERE Neurodevelopmental syndrome BA05917
RET Multiple endocrine neoplasia type 2 BA03835
RFX6 Mitchell-Riley syndrome BA06859
RH Blood group, RH system BA06355
RHO Retinitis pigmentosa BA03836
RINT1 Infantile liver failure syndrome 3 BA07052
RMRP Cartilage-hair hypoplasia BA06817
RMRP Cartilage-hair hypoplasia BA07017
RMRP Anauxetic dysplasia 1 BA07539
RP1 Retinitis pigmentosa 1 BA06820
RPE65 Leber congenital amaurosis 2 BA06918
RPGR Retinitis pigmentosa 33 BA06357
RPGRIP1 Leber congenital amaurosis BA04734
RS1 Retinoschisis BA06681
RTEL1 Dyskeratosis congenita, autosomal dominant 4 BA07523
RTTN Microcephaly, short stature, and polymicrogyria with seizures BA06885
RUNX1 Leukemia, acute myeloid BA06818
RUNX2 Cleidocranial dysplasia BA06842
RYR1 Central core disease BA03837
RYR1 Congenital myopathy 1B, autosomal recessive BA06794
RYR2 Ventricular tachycardia BA06857
SACS Spastic paraplegia BA06819
SALL4 Duane-radial ray syndrome BA06902
SATB2 Glass syndrome BA06354
SBDS Shwachman-Diamond syndrome 1 BA06912
SCN10A Episodic pain syndrome, familial, 2 BA06429
SCN1B Developmental and epileptic encephalopathy 52, atrial fibrillation, familial, 13 BA06906
SCN4A Paramyotonia BA04587
SCN5A Long QT syndrome 3 BA05686
SCN5A Dilated cardiomyopathy 1E BA06795
SCN8A Developmental and epileptic encephalopathy 13 BA06893
SCO2 Mitochondrial complex IV deficiency, nuclear type 2 BA06896
SDHA Cardiomyopathy, dilated, 1GG BA07066
SDHB Paragangliomas BA06853
SDHC Paraganglioma and gastric stromal sarcoma BA06861
SDHD Paraganglioma and gastric stromal sarcoma BA07002
SEMA3A Hypogonadotropic hypogonadism 16 with or without anosmia BA06917
SERPINA1 Alpha-1 antitrypsin deficiency BA05233
SERPING1 Angioedema, hereditary, 1 and 2 BA06509
SETD5 Mental retardation, autosomal dominant 23 BA06041
SGCA Muscular dystrophy, limb-girdle, autosomal recessive 3 BA06420
SGSH Mucopolysaccharidosis type IIIA BA06800
SH2D1A Lymphoproliferative syndrome, X-linked, 1 BA07044
SH3TC2 Charcot-Marie-Tooth disease, type 4C BA06435
SHH Holoprosencephaly 3 BA06992
SIX5 Branchio-oto-renal syndrome 2 BA06908
SLC12A1 Bartter syndrome type I BA05371
SLC12A3 Gitelman syndrome BA06455
SLC12A6 Charcot-Marie-Tooth disease, axonal, type 2II BA06882
SLC13A5 Epileptic encephalopathy, early infantile, 25 BA04902
SLC16A2 Allan-Herndon-Dudley syndrome BA06846
SLC1A3 Episodic ataxia, type 6 BA06890
SLC22A5 Carnitine deficiency BA06797
SLC26A2 Diastrophic dysplasia BA06649
SLC26A3 Congenital secretory diarrhea, chloride type BA04763
SLC26A4 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct BA06449
SLC2A2 Fanconi-Bickel syndrome BA04915
SLC37A4 Glycogen storage disease I BA06647
SLC3A1 Cystinuria BA06856
SLC45A2 Oculocutaneous albinism BA04920
SLC52A2 Brown-Vialetto-Van Laere syndrome 2 BA06663
SLC5A7 Myasthenic syndrome, congenital, 20, presynaptic BA04731
SLC6A8 Cerebral creatine deficiency syndrome 1 BA06347
SLC6A8 Cerebral creatine deficiency syndrome 1 BA06347
SLC6A8 Cerebral creatine deficiency syndrome 1 BA07018
SMAD3 Loeys-Dietz syndrome 3 BA07065
SMARCAL1 Schimke immuno-osseous dysplasia BA06847
SMCHD1 Bosma arhinia microphthalmia syndrome BA07023
SMN1 Spinal muscular atrophy BA03784
SMPD1 Niemann-Pick disease (SMPD1) BA04660
SNCA Dementia BA07041
SNRNP200 Retinitis pigmentosa 33 BA06351
SNRNP200 Retinitis pigmentosa 33 BA06351
SOX6 Tolchin-Le Caignec syndrome BA06046
SPAST Spastic paraplegia type 4 BA04397
SPATA5 Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities BA06677
STAT3 Autoimmune disease, multisystem, infantile-onset, 1 BA07032
STK11 Melanoma, malignant, somatic BA06905
STS Recessive X-linked ichthyosis BA06783
STXBP2 Familial hemophagocytic lymphohistiocytosis BA04900
SYNGAP1 Intellectual developmental disorder BA06852
SZT2 Developmental and epileptic encephalopathy 18 BA06894
TAZ Barth syndrome BA06801
TBC1D7 Macrocephaly/megalencephaly syndrome, AR BA04903
TBCE Kenny-Caffey syndrome type 1 BA04919
TBCK Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 BA06052
TBX5 Holt-Oram syndrome BA03839
TBX6 Spondylocostal dysostosis 5 BA07060
TCF12 Craniosynostosis 3 BA07491
TCF12 Craniosynostosis BA07533
TCOF1 Treacher-Collins syndrome BA03840
TCTN2 Joubert syndrome BA04826
TDRD7 Cataract 36 BA07015
TFAP2A Branchio-oculofacial syndrome BA06930
TGFB2 Loeys-Dietz syndrome 4 BA06887
TGFBR1 Loeys-Dietz syndrome BA04398
TGM1 Lamellar ichthyosis BA04631
THG1L Spinocerebellar ataxia, autosomal recessive 28 BA07542
THOC2 Intellectual disability BA06845
TMC1 Deafness BA07040
TMEM216 Joubert syndrome 2 / Meckel syndrome 2 BA06501
TMEM67 Joubert syndrome 6 BA06643
TMIE Deafness, autosomal recessive 6 BA06993
TNFSF11 Osteopetrosis, autosomal recessive 2 BA06032
TNNC1 Cardiomyopathy, dilated, 1Z BA07022
TNNI3K Cardiac conduction disease with or without dilated cardiomyopathy BA06995
TNNT2 Dilated cardiomyopathy BA04570
TNXB Ehlers-Danlos syndrome, classical-like BA04405
TP53 Li-Fraumeni syndrome BA04399
TRAPPC11 Muscular dystrophy, limb-girdle, autosomal recessive 18 BA07072
TRAPPC2 Spondyloepiphyseal dysplasia tarda BA06989
TREX1 Aicardi-Goutières syndrome BA05141
TRIP11 Achondrogenesis type 1A BA04652
TRIT1 Combined oxidative phosphorylation deficiency 35 BA07524
TRPV4 Scapuloperoneal spinal muscular atrophy BA06892
TSC1 Tuberous sclerosis BA03841
TSC2 Lymphangioleiomyomatosis, somatic BA06922
TSEN54 Pontocerebellar hypoplasia BA04845
TTN Dilated cardiomyopathy 1G BA06502
TTR Transthyretin amyloidosis BA05215
TUBB4B Leber congenital amaurosis with early-onset deafness BA07515
TULP1 Leber congenital amaurosis 15 BA06990
TUSC3 Mental retardation, autosomal recessive 7 BA04733
TWIST1 Saethre-Chotzen syndrome BA03842
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type) BA06987
TYR Oculocutaneous albinism BA06881
UBA5 Developmental and epileptic encephalopathy 44 BA06037
UBE3A Angelman syndrome BA06676
UFM1 Leukodystrophy, hypomyelinating, 14 BA06655
UMOD Tubulointerstitial kidney disease, autosomal dominant, 1 BA06850
UNC119 Cone-rod dystrophy 24 BA07548
UNC13D Hemophagocytic lymphohistiocytosis 3 BA03843
UPB1 Beta-ureidopropionase deficiency BA05328
USH1C Usher syndrome, type 1C BA06659
USH2A Usher syndrome, type 2A BA06361
VAPB Amyotrophic lateral sclerosis 8 BA07045
VHL Von Hippel-Lindau syndrome BA04400
VPS13A Choreoacanthocytosis BA06684
VPS13B Cohen syndrome BA04401
WAS Wiskott-Aldrich syndrome BA04823
WDR11 Hypogonadotropic hypogonadism 14 with or without anosmia BA06897
WDR45 Neurodegeneration with brain iron accumulation 5 BA07025
WDR62 Autosomal recessive primary microcephaly (WDR62) BA04762
WFS1 Wolfram syndrome 1 BA07507
WNT10A Odonto-onycho-dermal dysplasia BA06164
WNT2B Diarrhea 9 BA06511
WT1 Wilms tumor, type 1 BA06660
WWOX Spinocerebellar ataxia, AR 12 BA04917
Xp21.1 Xp21.1 deletion syndrome BA06900
Xp22.2 Xp22.2 duplication syndrome BA06914
Xp22.3 Xp22.3 duplication syndrome BA06983
Xq21.1 Chromosome Xq21.1 duplication syndrome BA06640
Xq21p11.4 Chromosomic region BA07510
ZFYVE26 Spastic paraplegia 15, autosomal recessive BA06447