| 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 |
