Test Catalogue

Condition Genes
Condition Genes
17,20-lyase deficiency (CYP17A1) 1
17-Beta-Hydroxysteroid Dehydrogenase X Deficiency (HSD17B10) 1
17-Hydroxylase Deficiency (CYP17A1) 1
2-aminoadipic 2-oxoadipic aciduria (DHTKD1) 1
2-methylbutyrylglycinuria (ACADSB) 1
3-methylglutaconic aciduria type I (AUH) 1
3-methylglutaconic aciduria type III (OPA3) 1
3-methylglutaconic aciduria type V (DNAJC19) 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (SERAC1) 1
3MC Syndrome 1 (MASP1) 1
3MC Syndrome 2 (COLEC11) 1
3q21q26 Syndrome (MECOM) 1
46XY complete gonadal dysgenesis (CBX2, SRY) 2
46XY gonadal dysgenesis, complete or partial, with or without adrenal failure 4
46XY partial gonadal dysgenesis, with minifascicular neuropathy 1
5-alpha reductase deficiency (SRD5A2, SRD5A3) 2
5-fluorouracil toxicity (DPYD) 1
5-oxoprolinase deficiency (OPLAH) 1
Aarskog-Scott syndrome (FGD1) 1
Abetalipoproteinemia (MTTP) 1
Abnormal mineralization panel (ALPL, ANKH, AP2S1, CASR, CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FGF23, GNA11, PHEX, PTH1R, SLC34A1, SLC34A3, SLC9A3R1, VDR) 17
Abruptio placentae (MTHFD1) 1
Absence of the vas deferens, congenital (CFTR) 1
Acampomelic campomelic dysplasia (SOX9) 1
Acatalasemia (CAT) 1
Achondrogenesis (COL2A1, SLC26A2, TRIP11) 3
Achondroplasia (FGFR3) 1
Achromatopsia (CNGA3, CNGB3, GNAT2, PDE6H) 4
Acrocallosal Syndrome (KIF7) 1
Acrodysostosis (PDE4D, PRKAR1A) 2
Acrokeratosis verruciformis (ATP2A2) 1
Acyl-CoA dehydrogenase-9 deficiency (ACAD9, ACADM, ACADS, ACADVL, ACAD8) 5
Acyl-CoA peroxisomal oxidase deficiency (ACOX1) 1
Adams-Oliver Syndrome (ARHGAP31, EOGT, NOTCH1, RBPJ) 4
Adams-Oliver Syndrome (ARHGAP31, EOGT, NOTCH1, RBPJ) 4
Adenocarcinoma of lung (BRAF, EGFR, ERBB2, PARK2) 4
Adenoma (APC, MUTYH, PLAG1) 3
Adrenoleukodystrophy (ALD) 8
Afibrinogenemia (FGA, FGB, FGG) 3
Agammaglobulinemia (BTK, IGHM, CD79A, CD79B, IGLL1, BLNK, LRRC8A, PIK3R1, TCF3) 9
Aicardi-Goutieres Syndrome 1 (TREX1) 1
Aicardi-Goutieres Syndrome 2 (RNASEH2B) 1
Aicardi-Goutieres Syndrome 3 (RNASEH2C) 1
Aicardi-Goutieres Syndrome 4 (RNASEH2A) 1
Aicardi-Goutieres Syndrome 5 (SAMHD1) 1
Aicardi-Goutieres Syndrome 6 (ADAR) 1
Aicardi-Goutieres Syndrome 7 (IFIH1) 1
Al-Raqad Syndrome (DCPS) 1
Albinism (AP3B1, BLOC1S3, BLOC1S6, C10ORF11, DTNBP1, EDN3, EDNRB, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, KIT, LYST, MC1R, MITF, MLPH, MYO5A, OCA2, PAX3, RAB27A, SLC24A5, SLC45A2, SNAI2, SOX10, TYR, TYRP1) 28
Alexander Disease (GFAP) 1
Alkaptonuria (HGD) 1
Allergic Rhinitis (IL13) 1
Alopecia universalis (HR) 1
Alpha/Beta T-cell lymphopenia (RAG1) 1
Alport Syndrome (COL4A3, COL4A4, COL4A5) 3
Alport syndrome with diffuse leiomyomatosis (COL4A5, COL4A6) 2
Alstrom Syndrome (ALMS1) 1
Alzheimer dementia and dementia (APOE, APP, PRNP, PSEN1, PSEN2, SORL1, TREM2) 7
Amelogenesis Imperfecta (AMBN, AMELX, C4ORF26, DLX3, ENAM, FAM20A, FAM83H, ITGB6, KLK4, LAMB3, MMP20, SLC24A4, WDR72) 13
Amelogenesis imperfecta, hypomaturation type, IIA3 1
Amelotenin Deficiency (AMTN) 1
Aminoacylase 1 deficiency (ACY1) 1
Amyloidosis (APOA1, FGA, GSN, IL31RA, LYZ, OSMR, TTR) 7
Amyotrophic lateral sclerosis (ALS2, ANG, ATXN2, C9orf72, CHMP2B, CHGB, DCTN1, FIG4, FUS, NEFH, OPTN, PFN1, PRPH2, SETX, SIGMAR1, SOD1, SPG20, TARDBP, UBQLN2, VAPB, VCP, VEGFA, VPS54) 23
Analbuminemia (ALB) 1
Andersen Syndrome (KCNJ2) 1
Androgen insensitivity syndrome (AR) 1
Androgen insensitivity, partial, with or without breast cancer (AR) 1
Anemia (ABCB7, ALAS2, GATA1, NT5C3A, RHAG, SLC11A2, SLC25A38, SPTB) 8
Aortic aneurysm, hereditary thoracic (MYH11, ACTA2, TGFBR1, TGFBR2, FBN1, COL3A1, SMAD3, CBS, FBN2, SLC2A10, MYLK, TGFB2, TGFB3) 13
Arginosuccinate Lyase deficiency (ASL) 1
Aromatase deficiency (CYP19A1) 1
Arrhythmia, hereditary (AKAP9, ANK2, CACNA1C, CACNB2, CASQ2, CAV3, DSC2, DSG2, DSP, GPD1L, JUP, KCNA5, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, NPPA, PKP2, PLN, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TGFB3, TMEM43) 29
Arrhythmogenic right ventricular cardiomyopathy (DSP, DSG2, DSC2, JUP, PKP2, RYR2, TGFB3, TMEM43) 8
Arthrogryposis (TPM2, MYBPC1, MYH3, TNNT3, TNNI2, MYH8, FBN2, PIEZO2, ECEL1, DOK7, RAPSN) 11
Asperger syndrome susceptibility X-linked type 2 (NLGN3)
Ataxia and muscle hypotonia (COX20) 1
Atopy (CYSLTR1, CYSLTR2, F2RL1, IL12RB2, IL4R, MS4A2, PGM3, PLA2G7, SART1, SELP, SPINK5) 11
Atrichia with papular lesions (HR) 1
Atypical hemolytic uremic syndrome (ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, PIGA, THBD) 14
Autism spectrum disorders (AHNAK2, ANKS3, BPIFA3, EN2, GRM7, MECP2, MYO16, MXRA5, NLGN3, NLGN4X, PDE8B, RABGGTA, RPL10) 13
Autoimmune lymphoproliferative syndrome (CASP10, FAS, FASLG, LRBA, TRADD, UNC13D, PRKCD, CTLA4) 8
Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia (AIRE) 1
Axenfeld-Rieger Syndrome (FOXC1, PITX2) 2
Azoospermia (AR, AURKC, AZF1, CAMK4, CFTR, DAZ2, DMRT1, DPP6, DPY19L2, E2F1, FKBP6, FKBPL,FSHB, H2BFWT, HORMAD1, HSF2, HSPA2, KLHL10, NANOS1, NR0B1, NR5A1, SEPT12, SLC26A8, SYCE1, SYCP3, TEX11, USP9Y) 27
Azoospermia due to perturbations of meiosis (SYCP3) 1
Bamforth-Lazarus syndrome (FOXE1) 1
Bardet- Biedl Syndrome 15 (WDPCP) 1
Bardet-Biedl Syndrome (CEP290) 1
Bardet-Biedl Syndrome 1 (BBS1) 1
Bardet-Biedl Syndrome 10 (BBS10) 1
Bardet-Biedl Syndrome 11 (TRIM32) 1
Bardet-Biedl Syndrome 12 (BBS12) 1
Bardet-Biedl Syndrome 13 (MKS1) 1
Bardet-Biedl Syndrome 2 (BBS2) 1
Bardet-Biedl Syndrome 3 (ARL6) 1
Bardet-Biedl Syndrome 4 (BBS4) 1
Bardet-Biedl Syndrome 5 (BBS5) 1
Bardet-Biedl Syndrome 6 (MKKS) 1
Bardet-Biedl Syndrome 7 (BBS7) 1
Bardet-Biedl Syndrome 8 (TTC8) 1
Bardet-Biedl Syndrome 9 (BBS9) 1
Barth Syndrome (TAZ) 1
Bartter Syndrome (ATP6V1B1, BSND, CA2, CASR, CLCNKA, CLCNKB, CLDN16, CLDN19, FXYD2, HSD11B2, KCNJ1, KCNJ10, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A2, SLC12A3, SLC4A1, SLC4A4, WNK1, WNK4) 24
Beta-Ketothiolase deficiency (ACAT1) 1
Bethlem myopathy (COL6A1, COL6A2, COL6A3, COL12A1) 4
Bifid nose with or without anorectal and renal anomalies 1
Biotinidase Deficiency (BTD) 1
Blau syndrome (NOD2) 1
Brain iron accumulation syndromes (ATP13A2, C19orf12, COASY, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, SCP2, WDR45) 11
Brugada syndrome (CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B, SCN3B, SCN5A, SLMAP) 9
Budd-Chiari syndrome (F5) 1
Candidiasis, familial chronic mucocutaneous (CANDF1, CARD9, STAT1, CLEC7A, TRAF3IP2, IL17F, IL17RA) 7
Carnitine Deficiency (SLC22A5) 1
Cervical stenosis (FGFR3, ARSB) 2
Chloride diarrhea, congenital, Finnish type (SLC26A3, SLC9A3) 2
Cholestasis, benign recurrent intrahepatic, type 1 (ATP8B1) 1
Cholestasis, benign recurrent intrahepatic, type 2 1
Cholestasis, progressive familial intrahepatic 5
Choroideremia (CHM) 1
Chronic granulomatous disease (CYBA, CYBB, NCF1, NCF2, NCF4, XK) 6
Chronic hepatitis (AIRE) 1
Cirrhosis, North American Indian childhood type (CIRH1A) 1
Citrullinemia (ASS1, SLC25A13) 2
Cleft Lip (BMP4, IRF6, MSX1, PVRL1, SUMO1, TP63) 6
Cleft palate; orofacial cleft 18
Clubfoot, congenital (HOXC11, HOXC12, PITX1, TBX4) 4
Coenzyme Q10 deficiency (ADCK3, COQ2, COQ4, COQ9, ETFDH, PDSS1, PDSS2) 7
Cold-induced autoinflammatory syndrome, familial (NLRP3, NLRC4, NLRP12, PLCG2,) 4
Colon Adenocarcinoma (RAD54L) 1
Combined cellular and humoral immune defects with granulomas (RAG1, RAG2) 2
Combined immunodeficiency, moderate (CD3E, IL2RG) 2
Combined oxidative phosphorylation deficiency 26
Combined pituitary hormone deficiency (GHR, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1) 7
Complement component 5 deficiency (C5D) 1
Complement component 6 deficiency (C6D) 1
Complement component 7 deficiency (C7D) 1
Congenital adrenal hyperplasia (CYP21A2, STAR, HSD3B2, CYP11B1, POR, CYP17A1) 6
Congenital hypothyroidism (GLIS3, NKX2-1, TPO, TSHR, PAX8) 5
Cowden Syndrome (AKT1, KLLN, PIK3CA, PTEN, SDHB, SDHD) 6
Crigler-Najjar Syndrome (UGT1A1) 1
Crohn Disease (IL6) 1
Crouzon Syndrome (FGFR2, FGFR3) 2
Cryptorchidism, bilateral idiopathic (INSL3) 1
Culler-Jones Syndrome (GLI2) 1
Currarino Syndrome (MNX1) 1
Cutis Laxa (ALH18A1, ATP6V0A2, EFEMP2, ELN, FBLN5, PYCR1) 6
Cystic fibrosis (CFTR, SLC6A14, SCNN1A, SCNN1B 4
Darier disease (ATP2A2, ATP2A2B) 2
De Sanctis-Cacchione syndrome (ERCC6) 1
Deafness 79
Deep venous thrombosis (F9) 1
Dejerine-Sottas Syndrome (EGR2, MPZ, PMP22) 3
Dent disease (CLCN5, OCRL) 2
Dentin Dysplasia (DSPP, SMOC2) 2
Denys-Drash Syndrome (WT1) 1
Diabetes insipidus, nephrogenic (AQP2, AVPR2) 2
Diarrhea 3, secretory sodium, congenital, syndromic 1
Diarrhea 4, malabsorptive, congenital (NEUROG3) 1
Diarrhea 5, with tufting enteropathy, congenital (EPCAM) 1
DiGeorge Syndrome (DGCR2, TBX1) 2
Dowling-Degos disease (KRT5, POGLUT1, POFUT1) 3
Dravet Syndrome (GABRG2, SCN1A, SCN2A, SCN9A) 4
Du Pan Syndrome (GDF5) 1
Duchenne muscular dystrophy (DMD) 1
Dyschromatosis symmetrica hereditaria (ADAR) 1
Eating disorders (BDNF, MC4R) 2
Ectodermal Dysplasia (CDH3, EDA, EDAR, EDARADD, GJB6, GRHL2, HOXC13, IKBKG, KRT85, MSX1, NFKBIA, PKP1, PVRL4)
Endometrial Cancer (CDH1, MLH3, MSH3, MSH6, PTEN) 5
Endometriosis (AHRR, PGR, MMP2, BRCA1) 4
Enterokinase deficiency (PRSS7) 1
Epidermal nevus 0
Epidermodysplasia verruciformis 3
Epidermolysis bullosa dystrophica/pruriginosa 1
Epidermolysis bullosa of hands and feet 3
Epidermolysis bullosa simplex with pyloric atresia 3
Epidermolysis bullosa simplex, Dowling-Meara type 2
Epidermolysis bullosa simplex, Ogna type 1
Epidermolysis bullosa, generalized atrophic benign 1
Epidermolysis bullosa, junctional, non-Herlitz type 1
Epidermolysis bullosa, lethal acantholytic 1
Epidermolytic hyperkeratosis 2
Episodic ataxia (CACNA1A, CACNB4, KCNA1, SLC1A3) 4
Erythroderma (DSG1) 1
Escobar Syndrome (CHRNG) 1
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 1
Female pseudo-Turner syndrome 17
Fertile eunuch syndrome (LHB) 1
Folate malabsorption, hereditary (SLC46A1) 1
Follicle-stimulating hormone deficiency, isolated, female (FSHB, FSHR) 2
Follicle-stimulating hormone deficiency, isolated, male 1
Galactose Epimerase Deficiency (GALE) 1
Galactosemia (GALT, GALK1, GALE) 3
Gallbladder Disease 1 (ABCB4) 1
Glaucoma (ACVR1, ASB10, BEST1, CANT1, COL18A1, CYP1B1, FOXC1, LMX1B, LOXL1, LTBP2, MYOC, NTF4, OPTN, PAX6, PITX2, PITX3, SBF2, WDR36) 18
Globozoospermia (DPY19L2, SPATA16) 2
Glomerulocystic kidney disease with hyperuricemia and isosthenuria (UMOD) 1
Glomerulopathy with fibronectin deposits 2 1
Glomerulosclerosis, focal segmental 21
Glutaric acidemia type-1-GA-1 1
Gout, PRPS-related (PRPS1) 1
Graves disease 0
Growth Hormone Deficiency (GH1, GHRHR, GHSR, HESX1) 4
Growth Retardation (FTO, IGF1) 2
HELLP syndrome, maternal, of pregnancy 1
Hemangioma, capillary infantile, somatic 3
HMG-CoA lyase deficiency 1
Hoyeraal-Hreidarsson syndrome 1
Human dermatosparaxis 1
Hydatidiform mole 1
Hydranencephaly with abnormal genitalia 1
Hyper-IgD syndrome 1
Hyper-IgE recurrent infection syndrome 2
Hyperammonemia, Hyperornithinemia, Homocitrullinuria (HHH Syndrome) 1
Hypercalciuria, genetic (SLC34A3, ADCY10, CASR, CLDN16, CLDN19, CYP24A1) 6
Hyperekplexia (GLRB, GLRA1, SLC6A5) 3
Hypertension (ADD1, AGT, AGTR1, CYP3A5, ECE1, GNB3, KCNMB1, NOS2, NOS3, NR3C2, PTGIS) 11
Hyperthyroidism (TSHR) 1
Hyperuricemic nephropathy, familial juvenile 2
Hypocalciuric hypercalcemia, type I (CASR) 1
Hypogonadotropic hypogonadism, female 21
Hypogonadotropic hypogonadism, male 21
Hypomyelination (DARS, SLC25A12) 2
Hypoparathyroidism (GATA3, GCM2, PTH) 3
Hypoproteinemia, hypercatabolic 1
Hypospadias (AR, MAMLD1) 1
Hypospadias 1, X-linked 1
Hypospadias 2, X-linked 1
Hypothyroidism (IGSF1, NKX2-5, PAX8, THRA, TSHB, TSHR) 6
Hypotrichosis (APCDD1, CDH3, CDSN, DSG4, HR, LIPH, LPAR6, RPL21, SNRPE1) 9
Hypotrichosis and recurrent skin vesicles 1
Hypotrichosis simplex of scalp 3
Hypotrichosis, congenital, with juvenile macular dystrophy 1
Hypotrichosis, hereditary, Marie Unna type 1
Hypotrichosis, localized 3
Hypotrichosis-lymphedema-telangiectasia syndrome 1
Hypouricemia (SLC22A12, SLC2A9) 2
Ichthyosiform erythroderma, congenital, nonbullous, type 1 2
Ichthyosis 34
Ichthyosis bullosa of Siemens 2
Ichthyosis follicularis, atrichia, and photophobia syndrome 1
Ichthyosis prematurity syndrome 1
Ichthyosis vulgaris 1
Ichthyosis with hypotrichosis 1
Ichthyosis, congenital 9
Ichthyosis, cyclic, with epidermolytic hyperkeratosis 2
Ichthyosis, harlequin 1
Ichthyosis, lamellar 4
Ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis 1
Ichthyosis; hystrix-like ichthyosis with deafness 1
IgG receptor deficiency (FCGR1A) 1
IgG receptor deficiency (FCGR1A) 1
IMAGE Syndrome (CDKN1C) 1
Immunodeficiency due to defect in CD3-zeta 1
Immunodeficiency due to defect in MAPBP-interacting protein 1
Immunodeficiency due to purine nucleoside phosphorylase deficiency 1
Immunodeficiency with hyper IgM, type 4 1
Immunodeficiency with hyper-IgM, type 2 1
Immunodeficiency with hyper-IgM, type 3 1
Immunodeficiency, common variable 10
Immunodeficiency, hypogammaglobulinemia, and reduced B cells 1
Immunodeficiency, isolated 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 4
Immunodysregulation, polyendocrinopathy, and enteropathy 1
Inclusion Body Myopathy (GNE, VCP) 2
Incontinentia pigmenti (Bloch-Sulzberger syndrome) 1
Inflammatory bowel disease (ABCB1, ATG16L1, IL10RA, IL10RB, IL23R, IRF5, IRGM, NOD2, SEL1L) 9
Inflammatory bowel disease 25 (CRFB4) 1
Insulin Resistance (PPARG, PPP1R3A, PTPN1) 3
Interleukin 1 receptor antagonist deficiency 1
Interleukin 2 receptor, alpha chain, deficiency of 1
IRAK4 deficiency type 1 1
IRAK4 deficiency type 2 1
Isovaleric acidemia 1
IVIC Syndrome (SALL4) 1
Kabuki Syndrome (KDM6A, KMT2D) 2
Kallmann syndrome 14
Kaposi Sarcoma (IL6) 1
Kenny-Caffey Syndrome (FAM111A, TBCE) 2
Keratoderma (AAGAB, GJB2) 2
Keratoderma, palmoplantar, with deafness 1
Keratosis follicularis spinulosa decalvans 1
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma 1
Keratosis palmoplantaris striata 3
Keratosis, seborrheic, somatic 1
Kindler syndrome 1
Kleefstra syndrome 5
Krabbe disease 2
Krabbe Disease (GALC, PSAP) 2
Lactic acidosis, fatal infantile 2
Laing distal myopathy 1
Laryngoonychocutaneous syndrome 1
Lathosterolosis 1
Legius syndrome 1
Leigh syndrome (BCS1L,COX10,COX15,FOXRED1,NDUFA12,NDUFA2,NDUFA9,NDUFAF2,NDUFAF6,NDUFS3,NDUFS4,NDUFS7,NDUFS8,SDHA,SURF1, C12ORF65, GFM2, GYG2, HIBCH, IARS2, MTFMT, NDUFA5, PDHA1, PDHB, PDSS2, PET100, SLC19A3, TACO1, TSFM, NUBPL, NDUFA10, NDUFAF1, NDUFAF3, NDUFA13, ACAD9) 35
Leigh syndrome, French-Canadian type (LRPPRC) 1
Leigh-like syndrome 1
Leiomyoma (FH, HMGA2) 2
Leiomyoma (FH, HMGA2) 2
Lentiginosis, perioral (Peutz-Jeghers syndrome) 1
Leopard Syndrome (BRAF, PTPN11, RAF1) 3
Lesch-Nyhan syndrome (HPRT1) 1
Leukodystrophy (AIMP1, FAM126A, GJC2, HSPD1, LMNB1, POLR3A, POLR3B, PYCR2, RARS, TUBB4A) 10
Leydig cell hypoplasia with hypergonadotropic hypogonadism 1
Leydig cell hypoplasia with pseudohermaphroditism 1
Liddle syndrome 2
LIG4 syndrome 1
LIG4 Syndrome (LIG4) 1
Lipodystrophy (AGPAT2, BSCL2, LIPE, LMNA, LMNB2, PLIN1, PPARG, PTRF) 8
Lipoma (LPP, MEN1) 2
Lissencephaly, X-linked 1
Liver failure, acute infantile 3
Loeys-Dietz syndrome (SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2) 5
Lupus 3
Luteinizing hormone resistance, female 1
Lymphoma (ATM, BCL10, BCL6, CASP10, KDSR, MAD1L1, PRF1, RAD54B, RAD54L) 9
Lymphoproliferative syndrome, EBV-associated 3
Majeed syndrome 1
Male genital disorders 4
Male infertility with large-headed, multiflagellar, polyploid spermatozoa 1
Male infertility, multiple causes 32
Male infertility, nonsyndromic, autosomal recessive 1
Maple syrup urine syndrome (BCKDHA, BCKDHB​, ​DBT, PPM1K) 4
Marshall syndrome 1
Meckel Syndrome (CC2D2A, CEP290, MKS1, NPHP3, RPGRIP1L, TMEM216, TMEM231, TMEM67) 8
Medium-chain acyl-CoA Dehydrogenise Deficiency-MCAD 1
Medullary cystic kidney disease 2 1
Medulloblastoma (BRCA2, PTCH2, SUFU) 3
Meleda Disease (SLURP1) 1
Membranoproliferative glomerulonephritis with CFH deficiency 1
Mental retardation and microcephaly with pontine and cerebellar hypoplasia 1
Mental retardation-hypotonic facies, X-linked (ATRX) 1
Methylcrotonyl carboxylase deficiency 2
Methylmalonic acidemia 15
Migraine and episodic ataxia 1
Migraine and POLG-related disorders 1
Mitochondrial complex I deficiency 18
Mitochondrial complex II deficiency 2
Mitochondrial complex III deficiency 9
Mitochondrial complex IV deficiency 12
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with methylmalonic aciduria 2
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy 1
Mitochondrial DNA depletion syndrome, hepatocerebral form 3
Mitochondrial DNA depletion syndrome, myopathic form 1
Mitochondrial myopathy and sideroblastic anemia (PUS1, YARS2) 2
Mitochondrial neurogastrointestinal encephalomyopathy syndrome 1
Mitochondrial neurogastrointestinal encephalomyopathy syndrome without leukoencephalopathy 1
Mitochondrial phosphate carrier deficiency 1
Mitochondrial respiratory chain complex II deficiency 1
Molybdenum cofactor deficiency (GPHN, MOCS1, MOCS2) 3
Monilethrix 4
Moyamoya disease (ACTA2, GUCY1A3, RNF213) 3
Mullerian aplasia and hyperandrogenism 1
Multiple Joint Dislocations (Larsen Syndrome) (B3GAT3) 1
Muscle glycogenosis 1
Myasthenic Syndrome (AGRN, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, MUSK, RAPSN, SCN4A, SYT2) 14
Myasthenic syndrome, congenital, associated with episodic apnea 2
Mycobacterial infection, atypical, familial disseminated 4
Myelofibrosis (JAK2, MPL, SH2B3) 3
Myeloproliferative disorder with eosinophilia 1
Myhre Syndrome (SMAD4) 1
Myhre Syndrome (SMAD4) 1
Myocardial infarction (ACE, APOE, ESR1, F13A1, F7, GCLC, GCLM, ITGB3, LGALS2, LRP8, LTA, MIAT, OLR1, PSMA6, TNFSF4) 15
Myoglobinuria (LPIN1) 1
Myotonic dystrophy (CNBP, DMPK) 2
Myxoma (PRKAR1A) 1
N syndrome 0
Nail Disorder (FZD6, PLCD1) 2
Nail-patella Syndrome (LMX1B) 1
Nance-Horan Syndrome (NHS) 1
Nanopthalmos (MFRP) 1
Narcolepsy (HCRT, MOG) HCRT, MOG
Naxos Disease (JUP) 1
Nemaline myopathy 10
Nemaline Myopathy (ACTA1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, NEB, TNNT1, TPM2, TPM3) 10
Nemaline myopathy 1 1
Nemaline myopathy 2 1
Nemaline myopathy 7 1
Nemaline myopathy, Amish Type 1
Nephrogenic syndrome of inappropriate antidiuresis 1
Nephrolithiasis, type I 1
Nephrolithiasis/osteoporosis, hypophosphatemic 2
Nephronophthisis, juvenile 3
Nephronopthisis (ANKS6, CEP164, CEP83, DCDC2, GLIS2, INVS, NPHP1, NPHP3, NPHP4, TMEM67, TTC21B, WDR19, ZNF423) 13
Nephropathy (CD151, CFHR5) 2
Nephropathy with pretibial epidermolysis bullosa and deafness 1
Nephrotic Syndrome (ARHGD1A, DGKE, EMP2, LAMB2, NPHS2, PLCE1, PTPRO, WT1) 8
Nephrotic syndrome, type 1 1
Netherton Syndrome (SPINK5) 1
Neu-Laxova Syndrome (PHGDH, PSAT1) 2
Neural tube defects (FUZ, MTHFR, MTR, MTRR, T, VANGL1, VANGL2) 7
Neuroblastoma (ALK, KIF1B, NME1, PHOX2B) 4
Neurofibromatosis (NF1, NF2, SMARCB1, SPRED1) 4
Neutropenia, severe congenital 8
Neutrophil immunodeficiency syndrome 1
Neutrophilia, hereditary 1
Nevus, epidermal, epidermolytic hyperkeratotic type 5
Noonan-like syndrome with loose anagen hair 1
Oocyte Maturation Defect (ZP1) 1
Ovalocytosis (SLC4A1) 1
Ovarian Adenocarcinoma (PARK2) 1
Ovarian response to FSH stimulation (FSHR) 1
Pachyonychia congenita 4
Pallister-Hall Syndrome (GLI3) 1
Palmoplantar hyperkeratosis and true hermaphroditism 1
Palmoplantar keratoderma, nonepidermolytic 1
Palmoplantar keratoderma, nonepidermolytic, focal 3
Pancreatitis (CFTR, CPA1, CTRC, PRSS1, SPINK1) 5
Pancreatitis, hereditary 5
Partington Syndrome (ARX) 1
Partington Syndrome (ARX) 1
Peeling Skin Syndrome (CDSN, CHST8, CSTA, TGM5) 4
Pelger-Huet Anomaly (LBR) 1
Pendred Syndrome (SLC26A4) 1
Pentosuria (DCXR) 1
Periodic fever, familial 3
Perlman Syndrome (DIS3L2) 1
Persistent Mullerian duct syndrome 2
Peters Anomaly (CYP1B1, PAX6, PTX2) 3
Pfeiffer Syndrome (FGFR1, FGFR2) 2
Phenylketonuria (PAH) 3
Pick Disease (PSEN1) 1
Piebaldism 2
Pigmented adrenocortical disease, primary, 1 1
Pigmented nodular adrenocortical disease, primary, 2 1
Pilomatricoma 2
Poikiloderma with neutropenia 1
Polycystic kidney and hepatic disease 1
Polycystic kidney disease (PKD1, PKD2, PKHD1, ANKS6, GANAB) 5
Polycystic liver disease (LRP5, PRKCSH, SEC63) 3
Polycystic ovary syndrome (SULT2B1, SULT2A1) 2
Pompe Disease (GAA) 1
Poretti-Boltshauser syndrome (LAMA1) 1
Porokeratosis, disseminated superficial actinic, 1 1
Porphyria cutanea tarda (PCT), familial 2
Precocious puberty, central, female 2
Precocious puberty, central, male 2
Precocious puberty, male 1
Premature ovarian failure (FMR1) 20
Primary Hyperoxaluria 3
Progesterone resistance 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions 3 2
Protein S deficiency (PROS1) 1
Prune-Belly Syndrome (CHRM3) 1
Pseudoachondroplasia (COMP) 1
Pseudohermaphroditism, with gynecomastia, male 1
Pseudohypoaldosteronism, type I 4
Pseudohypoparathyroidism type Ia 1
Pseudohypoparathyroidism type Ib 2
Pseudohypoparathyroidism type Ic 1
Pseudovaginal perineoscrotal hypospadias 1
Pseudoxanthoma elasticum 4
Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 1
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne 1
Recurrent miscarriages 3
Recurrent miscarriages associated with HLA type 1
Refsum Disease (PHYH) 1
Refsum Disease Panel (PEX1, PEX2, PEX26, PEX7, PHYH) 5
Renal adysplasia 2
Renal agenesis (FGF20, FRAS1, FREM1, FREM2, GDNF, RET, TNS3) 7
Renal cysts and diabetes syndrome 1
Renal glycosuria (SLC5A2) 1
Renal tubular acidosis with deafness 1
Renal tubular acidosis, distal 2
Renal tubular acidosis, proximal, with ocular abnormalities 1
Renal-hepatic-pancreatic dysplasia 1
Restrictive dermopathy, lethal 2
Reticular dysgenesis 1
RIDDLE syndrome (RNF168) 1
Rippling Muscle Disease (CAV3) 1
Roberts Syndrome (ESCO2) 1
Roussy-Levy Syndrome (PMP22) 1
Rubinstein-Taybi Syndrome (EP300, CREBBP) 2
Schimke immuno-osseous dysplasia 1
Schindler Syndrome (NAGA) 1
Schinzel syndrome (KIAA0196, TBX3) 2
Schizencephaly (EMX2, SHH, SIX3) 3
Seborrhea-like dermatitis with psoriasiform elements (SLDP) 1
Sengers Syndrome (AGK) 1
Sensorineural deafness with mild renal dysfunction 1
Sertoli-cell-only syndrome 3
Severe combined immunodeficiency (SCID) 23
Shaheen Syndrome (COG6) 1
Short Bowel Syndrome (CLMP, FLNA) 2
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) 2
Sickle cell disease 1
Silver-Russell syndrome 8
Skin fragility-woolly hair syndrome 1
Skin/hair/eye pigmentation 9, dark/light hair 1
Spastic Ataxia (KIF1, MARS2, SACS, VAMP1) 4
Spina Bifida (CCL2, MTHFD1) CCL2, MTHFD1
Spondylocarpotarsal synostosis syndrome 1
Spondylocostal dysostosis 5
Spondylocostal dystostosis type 4 1
Spondyloepimetaphyseal dysplasia 10
Spondyloepimetaphyseal dysplasia, Aggrecan type 1
Spondyloepimetaphyseal dysplasia, Missouri type 1
Spondyloepimetaphyseal dysplasia, Strudwick type 1
Spondyloepimetaphyseal dysplasia, type I 1
Spondyloepiphyseal dysplasia tarda 1
Spondyloepiphyseal dysplasia tarda with progressive arthropathy 1
Spondyloepiphyseal dysplasia with congenital joint dislocations (CHST3) 1
Stargardt Disease (ABCA4) 1
Sudden Infant Death Syndrome (SCN5A, TSPYL1) 2
Sudden infant death with dysgenesis of the testes syndrome (TSPYL1) 1
Sulfatase Deficiency (SUMF1) 1
Syndactyly (BHLHA9, CACNA1C, FAM58A, FGFR1, FGFR2, FRAS2, FREM2, FBLN1​, GJA1,GLI3, HOXD13, LMBR1, PVRL4, RAB23, GRIP1, PVRL1, SOST, TWIST1) 18
Systemic Lupus Erythematosus (BANK1, CR2, CTLA4, DNAS1, DNASE1L3, FCGR2B, IRF5, ITGAM, PDCD1, PTPN22, STAT4, TLR5, TREX1) 13
Systemic Lupus Erythematosus (CTLA4, DNASE1, FCGR2A, FCGR2B, PTPN22, TREX1) 6
T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
Tangier Disease (ABCA1) 1
TARP syndrome (RBM10) 1
Tay-Sachs Disease (HEXA) 1
Telangiectasia (ACVRL1, ENG, GDF2) 3
Tenorio Syndrome (RNF125) 1
Testicular feminization syndrome 1
Testicular microlithiasis 1
Testicular Tumor (STK11) 1
Testicular tumor, sporadic 0
Tetralogy of Fallot (GATA4, GATA6, JAG1, NKX2-5, TBX1, ZFPM2) 6
Thalassemia 7
Thyroid Cancer (APC, PTEN, RET) 3
Toenail dystrophy, isolated (COL7A1) 1
Tourette Syndrome (HDC, SLITRK1) 2
Traboulsi Syndrome (ASPH) 1
Transcobalamine II Deficiency (TCN2) 1
Treacher Collins (POLR1C, POLR1D, TCOF1) 3
Trichoepithelioma, multiple familial, 1 (CYLD) 1
Trichorhinophalangeal syndrome, type I (TRPS1) 1
Trichothiodystrophy, nonphotosensitive 1 (MPLKIP, RNF113A) 2
Trifunctional protein deficiency (HADHB) 2
Tuberous Sclerosis (TSC1, TSC2) 2
Ullrich Muscular Dystrophy (COL6A1, COL6A2, COL6A3) 3
Urea Cycle Disorder (ARG1, ASL, ASS1, CPS1, NAGS, OTC) 6
Van Buchem Disease (SOST) 1
Variegate porphyria (PPOX) 1
Vesicoureteral reflux 2 (ROBO2) 1
Vici Syndrome (EPG5) 1
Vitamin E familial deficiency (TTPA) 1
Vohwinkel syndrome (GJB2, LOR) 2
Warburg micro syndrome 1 (RAB3GAP1) 1
Weaver Syndrome (EZH2) 1
Werner Syndrome (RECQL2) 1
WHIM syndrome (CXCR4) 1
White sponge nevus (KRT13, KRT4) 2
Wrinkly skin syndrome (ATP6V0A2) 1
X-inactivation, familial skewed 1
X-linked Anemia (GATA1) 1
Xeroderma pigmentosum (DDB2,ERCC1, ERCC2,ERCC3,ERCC4,ERCC5,POLH,XPA,XPC) 9
Xeroderma pigmentosum, variant type (POLH) 1
XFE Progeroid Syndrome (ERCC4) 1
Y-chromsome microdeletion 0