Soonchunhyang University Bucheon Hospital (Soonchunhyang University Hospital)

General information

Soonchunhyang University Bucheon Hospital
Soonchunhyang University Hospital
http://www.schmc.ac.kr/bucheon/kor/index.do
Organization ID: 505765

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 366

Gene

GeneSubmissionsLast Updated
ABCA11Apr 14, 2016
ABCA41Apr 14, 2016
ABCC81Apr 14, 2016
ADAMTS131Apr 14, 2016
ADAMTSL21Apr 14, 2016
ADGRV11Apr 14, 2016
ALB1Apr 14, 2016
ALMS11Apr 14, 2016
ALS21Apr 14, 2016
AMACR1Apr 14, 2016
AMPD11Apr 14, 2016
ANOS11Apr 14, 2016
ARFGEF21Apr 14, 2016
ASPM1Apr 14, 2016
ASS11Apr 14, 2016
ATP6V1B11Apr 14, 2016
ATP7B4Apr 14, 2016
ATRIP2Apr 14, 2016
ATRIP-TREX12Apr 14, 2016
BAG31Apr 14, 2016
BBS11Apr 14, 2016
BBS41Apr 14, 2016
BCHE2Apr 14, 2016
BCKDHB1Apr 14, 2016
BEST11Apr 14, 2016
BMP41Apr 14, 2016
BMPR21Apr 14, 2016
BRCA12Apr 14, 2016
BRCA24Apr 14, 2016
BSND1Apr 14, 2016
BTD1Apr 14, 2016
C1QTNF3-AMACR1Apr 14, 2016
C21Apr 14, 2016
C71Apr 14, 2016
CAPN32Apr 14, 2016
CBS1Apr 14, 2016
CD3201Apr 14, 2016
CD362Apr 14, 2016
CD961Apr 14, 2016
CDH11Apr 14, 2016
CENPJ1Apr 14, 2016
CEP1521Apr 14, 2016
CEP2901Apr 14, 2016
CEP631Apr 14, 2016
CFB2Apr 14, 2016
CFTR3Apr 14, 2016
CHEK21Apr 14, 2016
CHROMR1Apr 14, 2016
CLCN21Apr 14, 2016
CNGA13Apr 14, 2016
CNGB11Apr 14, 2016
COG51Apr 14, 2016
COL11A21Apr 14, 2016
COL17A11Apr 14, 2016
COL1A11Apr 14, 2016
COL4A31Apr 14, 2016
COL4A41Apr 14, 2016
COL4A51Apr 14, 2016
COL7A13Apr 14, 2016
COQ8A1Apr 14, 2016
CORIN1Apr 14, 2016
CRB11Apr 14, 2016
CRYBA11Apr 14, 2016
CSF1R1Apr 14, 2016
CTH1Apr 14, 2016
CTNNA31Apr 14, 2016
CUBN1Apr 14, 2016
CYP1B13Apr 14, 2016
CYP21A22Apr 14, 2016
CYP27A12Apr 14, 2016
CYP4V21Apr 14, 2016
CYP7B11Apr 14, 2016
DBNL1Apr 14, 2016
DHCR71Apr 14, 2016
DIAPH31Apr 14, 2016
DMD2Apr 14, 2016
DMGDH1Apr 14, 2016
DNAH51Apr 14, 2016
DSP1Apr 14, 2016
DUOX22Apr 14, 2016
DUOXA21Apr 14, 2016
DYNC2H11Apr 14, 2016
EDN31Apr 14, 2016
EDNRB1Apr 14, 2016
ELAC21Apr 14, 2016
EPB421Apr 14, 2016
ERCC11Apr 14, 2016
ESRRB1Apr 14, 2016
EYA12Apr 14, 2016
F121Apr 14, 2016
F82Apr 14, 2016
F91Apr 14, 2016
FANCI1Apr 14, 2016
FBN12Apr 14, 2016
FBN21Apr 14, 2016
FBXO71Apr 14, 2016
FKTN1Apr 14, 2016
FLG5Apr 14, 2016
FLNA1Apr 14, 2016
FMO32Apr 14, 2016
FUT21Apr 14, 2016
FUT62Apr 14, 2016
G6PC11Apr 14, 2016
GALC2Apr 14, 2016
GALE1Apr 14, 2016
GALK11Apr 14, 2016
GAMT1Apr 14, 2016
GATA41Apr 14, 2016
GCKR2Apr 14, 2016
GCNT21Apr 14, 2016
GFAP2Apr 14, 2016
GHR1Apr 14, 2016
GJB22Apr 14, 2016
GJB41Apr 14, 2016
GJB61Apr 14, 2016
GLDC1Apr 14, 2016
GLRA11Apr 14, 2016
GLUD11Apr 14, 2016
GNE1Apr 14, 2016
GORAB1Apr 14, 2016
GRM61Apr 14, 2016
GSDME1Apr 14, 2016
GSS1Apr 14, 2016
GUCA1B1Apr 14, 2016
GUSB1Apr 14, 2016
HADHB2Apr 14, 2016
HARS21Apr 14, 2016
HNF4A1Apr 14, 2016
HP1Apr 14, 2016
HSD17B41Apr 14, 2016
HUWE11Apr 14, 2016
IFT1401Apr 14, 2016
IL17F1Apr 14, 2016
IL36RN1Apr 14, 2016
IRS11Apr 14, 2016
ITGA2B1Apr 14, 2016
ITGA61Apr 14, 2016
ITGA6-AS11Apr 14, 2016
ITGB31Apr 14, 2016
ITGB41Apr 14, 2016
JAG11Apr 14, 2016
KCNE21Apr 14, 2016
KCNE31Apr 14, 2016
KCNJ11Apr 14, 2016
KCNJ101Apr 14, 2016
KCNJ51Apr 14, 2016
KCNK181Apr 14, 2016
KCNQ21Apr 14, 2016
KCNV21Apr 14, 2016
KIF1B1Apr 14, 2016
KIRREL21Apr 14, 2016
KLKB11Apr 14, 2016
KNG11Apr 14, 2016
KRT831Apr 14, 2016
KRT91Apr 14, 2016
LDLR1Apr 14, 2016
LIPH1Apr 14, 2016
LIPT21Apr 14, 2016
LMBRD11Apr 14, 2016
LOC1001307981Apr 14, 2016
LOC1019271573Apr 14, 2016
LOC1019271791Apr 14, 2016
LOC1053710461Apr 14, 2016
LOC1054476451Apr 14, 2016
LOC1067808002Apr 14, 2016
LRP21Apr 14, 2016
LRP52Apr 14, 2016
LRPPRC1Apr 14, 2016
MAPT1Apr 14, 2016
MASP11Apr 14, 2016
MC1R1Apr 14, 2016
MFF-DT1Apr 14, 2016
MLC11Apr 14, 2016
MLH12Apr 14, 2016
MMACHC1Apr 14, 2016
MMP141Apr 14, 2016
MPV171Apr 14, 2016
MSH22Apr 14, 2016
MSX11Apr 14, 2016
MUTYH4Apr 14, 2016
MYBPC31Apr 14, 2016
MYH21Apr 14, 2016
MYH71Apr 14, 2016
MYH81Apr 14, 2016
MYHAS2Apr 14, 2016
MYO3A1Apr 14, 2016
MYOZ21Apr 14, 2016
MYPN1Apr 14, 2016
NAGLU1Apr 14, 2016
NBN1Apr 14, 2016
NCSTN1Apr 14, 2016
NDST11Apr 14, 2016
NEXN1Apr 14, 2016
NHLH11Apr 14, 2016
NLRP11Apr 14, 2016
NPHP11Apr 14, 2016
NPHP41Apr 14, 2016
NPHS13Apr 14, 2016
NPHS21Apr 14, 2016
NR0B11Apr 14, 2016
NR1D11Apr 14, 2016
OBSL11Apr 14, 2016
OPTN1Apr 14, 2016
ORC41Apr 14, 2016
OTOF1Apr 14, 2016
PAH3Apr 14, 2016
PANK21Apr 14, 2016
PCCA1Apr 14, 2016
PCCB2Apr 14, 2016
PCM11Apr 14, 2016
PDE11A4Apr 14, 2016
PDE11A-AS11Apr 14, 2016
PDE6B1Apr 14, 2016
PEX71Apr 14, 2016
PGAM21Apr 14, 2016
PHEX1Apr 14, 2016
PIKFYVE1Apr 14, 2016
PKD11Apr 14, 2016
PKLR1Apr 14, 2016
PKP21Apr 14, 2016
PLA2G71Apr 14, 2016
PLG1Apr 14, 2016
PLOD31Apr 14, 2016
PMM21Apr 14, 2016
POLG1Apr 14, 2016
POLH2Apr 14, 2016
POLR1C1Apr 14, 2016
POR1Apr 14, 2016
PPT11Apr 14, 2016
PRKAG21Apr 14, 2016
PRKRA1Apr 14, 2016
PRNP1Apr 14, 2016
PROC2Apr 14, 2016
PRODH1Apr 14, 2016
PROKR21Apr 14, 2016
PTCH21Apr 14, 2016
PYGL1Apr 14, 2016
RAD501Apr 14, 2016
RARS21Apr 14, 2016
RECQL41Apr 14, 2016
RET2Apr 14, 2016
RHAG1Apr 14, 2016
RNASEH2B1Apr 14, 2016
ROBO21Apr 14, 2016
RP11Apr 14, 2016
RP1L13Apr 14, 2016
RPGRIP11Apr 14, 2016
RPS101Apr 14, 2016
RPS10-NUDT31Apr 14, 2016
RYR11Apr 14, 2016
RYR21Apr 14, 2016
SAMD92Apr 14, 2016
SCN10A1Apr 14, 2016
SCN1A-AS12Apr 14, 2016
SCN2B1Apr 14, 2016
SCN5A1Apr 14, 2016
SCN9A2Apr 14, 2016
SCNN1B1Apr 14, 2016
SEC23B1Apr 14, 2016
SERPINA31Apr 14, 2016
SERPINA71Apr 14, 2016
SFTPC1Apr 14, 2016
SLC12A34Apr 14, 2016
SLC17A81Apr 14, 2016
SLC22A121Apr 14, 2016
SLC25A132Apr 14, 2016
SLC26A43Apr 14, 2016
SLC34A11Apr 14, 2016
SLC3A11Apr 14, 2016
SLC4A111Apr 14, 2016
SLC7A91Apr 14, 2016
SLCO2A13Apr 14, 2016
SPG111Apr 14, 2016
SPTB1Apr 14, 2016
SRCAP1Apr 14, 2016
STAR1Apr 14, 2016
SUMF11Apr 14, 2016
TBCE1Apr 14, 2016
TBCEL-TECTA1Apr 14, 2016
TCOF11Apr 14, 2016
TECTA1Apr 14, 2016
TG1Apr 14, 2016
TGFBI1Apr 14, 2016
TGM11Apr 14, 2016
TH2LCRR1Apr 14, 2016
THAP11Apr 14, 2016
THRA1Apr 14, 2016
TK21Apr 14, 2016
TMEM2371Apr 14, 2016
TMEM671Apr 14, 2016
TMPO2Apr 14, 2016
TMPRSS31Apr 14, 2016
TP531Apr 14, 2016
TPO1Apr 14, 2016
TRDN1Apr 14, 2016
TREX12Apr 14, 2016
TRIOBP1Apr 14, 2016
TRIP111Apr 14, 2016
TRPM12Apr 14, 2016
TRPM41Apr 14, 2016
TRPV31Apr 14, 2016
TSC11Apr 14, 2016
TSHR2Apr 14, 2016
TTN1Apr 14, 2016
TXNL4B1Apr 14, 2016
TYK21Apr 14, 2016
UNC13D2Apr 14, 2016
UPB11Apr 14, 2016
USH2A5Apr 14, 2016
WFS13Apr 14, 2016
WNT10A2Apr 14, 2016
WRAP531Apr 14, 2016
WWOX1Apr 14, 2016
XIAP1Apr 14, 2016
ZDHHC241Apr 14, 2016
ZEB21Apr 14, 2016

Condition

NameSubmissionsLast Updated
3MC syndrome 11Apr 14, 2016
Achondrogenesis, type IA1Apr 14, 2016
Acute lymphoid leukemia1Apr 14, 2016
Aicardi Goutieres syndrome 12Apr 14, 2016
Aicardi Goutieres syndrome 21Apr 14, 2016
Alagille syndrome 11Apr 14, 2016
Alexander Disease2Apr 14, 2016
Alport syndrome 1, X-linked recessive1Apr 14, 2016
Alport syndrome 3, autosomal dominant1Apr 14, 2016
Alport syndrome, autosomal recessive2Apr 14, 2016
Alstrom syndrome1Apr 14, 2016
Amyotrophic lateral sclerosis type 21Apr 14, 2016
Anhaptoglobinemia1Apr 14, 2016
Arrhythmogenic right ventricular dysplasia 81Apr 14, 2016
Arrhythmogenic right ventricular dysplasia 91Apr 14, 2016
Arrhythmogenic right ventricular dysplasia, familial, 131Apr 14, 2016
Atrial fibrillation, familial, 141Apr 14, 2016
Atrial fibrillation, familial, 41Apr 14, 2016
Atrial septal defect 21Apr 14, 2016
Atrioventricular septal defect 41Apr 14, 2016
Auditory neuropathy, autosomal dominant, 11Apr 14, 2016
Autosomal dominant nonsyndromic deafness 62Apr 14, 2016
Autosomal recessive Kenny-Caffey syndrome1Apr 14, 2016
Autosomal recessive congenital ichthyosis 11Apr 14, 2016
Baller-Gerold syndrome1Apr 14, 2016
Bardet-Biedl syndrome1Apr 14, 2016
Bardet-Biedl syndrome 11Apr 14, 2016
Bardet-Biedl syndrome 41Apr 14, 2016
Bartter disease type 4a1Apr 14, 2016
Bartter syndrome, type 2, antenatal1Apr 14, 2016
Beaded hair1Apr 14, 2016
Becker muscular dystrophy2Apr 14, 2016
Benign familial hematuria1Apr 14, 2016
Benign familial neonatal seizures 11Apr 14, 2016
Bestrophinopathy, autosomal recessive1Apr 14, 2016
Bietti crystalline corneoretinal dystrophy1Apr 14, 2016
Bifunctional peroxisomal enzyme deficiency1Apr 14, 2016
Biotinidase deficiency1Apr 14, 2016
Bone fragility with contractures, arterial rupture, and deafness1Apr 14, 2016
Bone mineral density quantitative trait locus 11Apr 14, 2016
Branchiootorenal Syndrome 12Apr 14, 2016
Breast-ovarian cancer, familial 12Apr 14, 2016
Breast-ovarian cancer, familial 24Apr 14, 2016
Bronchiectasis with or without elevated sweat chloride 11Apr 14, 2016
Brugada syndrome 61Apr 14, 2016
C syndrome1Apr 14, 2016
Candidiasis, familial, 61Apr 14, 2016
Carney complex variant1Apr 14, 2016
Cataract 13 with adult i phenotype1Apr 14, 2016
Cataract, congenital zonular, with sutural opacities1Apr 14, 2016
Catecholaminergic polymorphic ventricular tachycardia type 11Apr 14, 2016
Cerebrooculofacioskeletal syndrome 41Apr 14, 2016
Cholestanol storage disease2Apr 14, 2016
Cholesterol monooxygenase (side-chain cleaving) deficiency1Apr 14, 2016
Ciliary dyskinesia, primary, 31Apr 14, 2016
Citrullinemia type I1Apr 14, 2016
Citrullinemia type II2Apr 14, 2016
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2Apr 14, 2016
Classic homocystinuria1Apr 14, 2016
Cobalamin C disease1Apr 14, 2016
Coenzyme Q10 deficiency, primary, 41Apr 14, 2016
Combined oxidative phosphorylation deficiency 171Apr 14, 2016
Complement component 7 deficiency1Apr 14, 2016
Complement factor B deficiency2Apr 14, 2016
Cone dystrophy with supernormal rod response1Apr 14, 2016
Cone-rod dystrophy 131Apr 14, 2016
Congenital adrenal hypoplasia, X-linked1Apr 14, 2016
Congenital contractural arachnodactyly1Apr 14, 2016
Congenital disorder of glycosylation type 2i1Apr 14, 2016
Congenital disorder of glycosylation, type Ia1Apr 14, 2016
Congenital dyserythropoietic anemia, type II1Apr 14, 2016
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type1Apr 14, 2016
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B41Apr 14, 2016
Congenital stationary night blindness, type 1B1Apr 14, 2016
Congenital stationary night blindness, type 1C2Apr 14, 2016
Corneal dystrophy, lattice type 3A1Apr 14, 2016
Corneal endothelial dystrophy1Apr 14, 2016
Cutaneous malignant melanoma 51Apr 14, 2016
Cystathioninuria1Apr 14, 2016
Cystic fibrosis3Apr 14, 2016
Cystinuria2Apr 14, 2016
Deafness, autosomal dominant 121Apr 14, 2016
Deafness, autosomal dominant 131Apr 14, 2016
Deafness, autosomal dominant 251Apr 14, 2016
Deafness, autosomal dominant 3a3Apr 14, 2016
Deafness, autosomal dominant 3b1Apr 14, 2016
Deafness, autosomal dominant 51Apr 14, 2016
Deafness, autosomal recessive 1A3Apr 14, 2016
Deafness, autosomal recessive 1b1Apr 14, 2016
Deafness, autosomal recessive 281Apr 14, 2016
Deafness, autosomal recessive 301Apr 14, 2016
Deafness, autosomal recessive 351Apr 14, 2016
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct2Apr 14, 2016
Deafness, autosomal recessive 531Apr 14, 2016
Deafness, autosomal recessive 81Apr 14, 2016
Deafness, autosomal recessive 91Apr 14, 2016
Deficiency of beta-ureidopropionase1Apr 14, 2016
Deficiency of butyrylcholine esterase2Apr 14, 2016
Deficiency of guanidinoacetate methyltransferase1Apr 14, 2016
Deficiency of iodide peroxidase1Apr 14, 2016
Diabetes mellitus AND insipidus with optic atrophy AND deafness1Apr 14, 2016
Diamond-Blackfan anemia 91Apr 14, 2016
Dilated cardiomyopathy 1G1Apr 14, 2016
Dilated cardiomyopathy 1KK1Apr 14, 2016
Dilated cardiomyopathy 1T2Apr 14, 2016
Dimethylglycine dehydrogenase deficiency1Apr 14, 2016
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency1Apr 14, 2016
Donnai-Barrow syndrome2Apr 14, 2016
Dyskeratosis congenita, autosomal recessive, 31Apr 14, 2016
Dystonia 161Apr 14, 2016
Epidermolysis bullosa junctionalis with pyloric atresia2Apr 14, 2016
Epidermolytic palmoplantar keratoderma1Apr 14, 2016
Epilepsy with grand mal seizures on awakening1Apr 14, 2016
Episodic pain syndrome, familial, 21Apr 14, 2016
Exudative vitreoretinopathy 41Apr 14, 2016
Factor XII deficiency disease1Apr 14, 2016
Familial X-linked hypophosphatemic vitamin D refractory rickets1Apr 14, 2016
Familial acne inversa 11Apr 14, 2016
Familial hemophagocytic lymphohistiocytosis 32Apr 14, 2016
Familial hypercholesterolemia 12Apr 14, 2016
Familial hypertrophic cardiomyopathy 11Apr 14, 2016
Familial hypertrophic cardiomyopathy 161Apr 14, 2016
Familial hypertrophic cardiomyopathy 201Apr 14, 2016
Familial hypertrophic cardiomyopathy 41Apr 14, 2016
Familial hypertrophic cardiomyopathy 91Apr 14, 2016
Familial hypokalemia-hypomagnesemia4Apr 14, 2016
Familial renal hypouricemia1Apr 14, 2016
Fanconi anemia, complementation group I1Apr 14, 2016
Fasting plasma glucose level quantitative trait locus 52Apr 14, 2016
Finnish congenital nephrotic syndrome3Apr 14, 2016
Fleck corneal dystrophy1Apr 14, 2016
Floating-Harbor syndrome1Apr 14, 2016
Frontotemporal dementia1Apr 14, 2016
Fucosyltransferase 6 deficiency2Apr 14, 2016
Fukuyama congenital muscular dystrophy1Apr 14, 2016
GNE myopathy1Apr 14, 2016
Galactosylceramide beta-galactosidase deficiency2Apr 14, 2016
Geleophysic dysplasia 11Apr 14, 2016
Generalized dominant dystrophic epidermolysis bullosa3Apr 14, 2016
Generalized epilepsy with febrile seizures plus, type 71Apr 14, 2016
Geroderma osteodysplastica1Apr 14, 2016
Glanzmann thrombasthenia2Apr 14, 2016
Glaucoma 3, primary congenital, A3Apr 14, 2016
Gluthathione synthetase deficiency1Apr 14, 2016
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1Apr 14, 2016
Glycogen storage disease type X1Apr 14, 2016
Glycogen storage disease, type VI1Apr 14, 2016
Gorlin syndrome1Apr 14, 2016
Groenouw corneal dystrophy type I1Apr 14, 2016
Hecht syndrome1Apr 14, 2016
Hereditary diffuse gastric cancer1Apr 14, 2016
Hereditary diffuse leukoencephalopathy with spheroids1Apr 14, 2016
Hereditary factor IX deficiency disease1Apr 14, 2016
Hereditary factor VIII deficiency disease2Apr 14, 2016
Hereditary spastic paraplegia 5A1Apr 14, 2016
Heterotopia, periventricular, autosomal recessive1Apr 14, 2016
High molecular weight kininogen deficiency1Apr 14, 2016
Hirschsprung disease 12Apr 14, 2016
Hirschsprung disease 21Apr 14, 2016
Hirschsprung disease 41Apr 14, 2016
Hyperekplexia 11Apr 14, 2016
Hyperinsulinism-hyperammonemia syndrome1Apr 14, 2016
Hyperthyroxinemia, familial dysalbuminemic1Apr 14, 2016
Hypogonadotropic hypogonadism 1 with or without anosmia1Apr 14, 2016
Hypoparathyroidism-retardation-dysmorphism syndrome1Apr 14, 2016
Hypothyroidism, congenital, nongoitrous, 12Apr 14, 2016
Hypothyroidism, congenital, nongoitrous, 61Apr 14, 2016
Hypotrichosis 71Apr 14, 2016
I blood group system1Apr 14, 2016
Ichthyosis vulgaris5Apr 14, 2016
Idiopathic nephrotic syndrome1Apr 14, 2016
Imerslund-Gräsbeck syndrome1Apr 14, 2016
Iodotyrosyl coupling defect1Apr 14, 2016
Jakob-Creutzfeldt disease1Apr 14, 2016
Joubert syndrome 141Apr 14, 2016
Joubert syndrome 41Apr 14, 2016
Joubert syndrome 61Apr 14, 2016
Joubert syndrome with hepatic defect1Apr 14, 2016
Junctional epidermolysis bullosa, non-Herlitz type2Apr 14, 2016
Kallmann syndrome 31Apr 14, 2016
Leber congenital amaurosis 101Apr 14, 2016
Leber congenital amaurosis 81Apr 14, 2016
Li-Fraumeni syndrome 11Apr 14, 2016
Limb-girdle muscular dystrophy, type 2A2Apr 14, 2016
Limb-girdle muscular dystrophy, type 2J1Apr 14, 2016
Limb-girdle muscular dystrophy-dystroglycanopathy, type C41Apr 14, 2016
Localized epidermolysis bullosa simplex1Apr 14, 2016
Long QT syndrome 131Apr 14, 2016
Long QT syndrome 61Apr 14, 2016
Lymphoproliferative syndrome 2, X-linked1Apr 14, 2016
Lynch syndrome I2Apr 14, 2016
Lynch syndrome II2Apr 14, 2016
MYH-associated polyposis4Apr 14, 2016
Malignant hyperthermia, susceptibility to, 11Apr 14, 2016
Malignant tumor of prostate1Apr 14, 2016
Maple syrup urine disease1Apr 14, 2016
Marfan syndrome2Apr 14, 2016
Megalencephalic leukoencephalopathy with subcortical cysts 11Apr 14, 2016
Meier-Gorlin syndrome 21Apr 14, 2016
Mental retardation, autosomal recessive 461Apr 14, 2016
Methylmalonic aciduria due to transcobalamin receptor defect1Apr 14, 2016
Microphthalmia with brain and digit anomalies1Apr 14, 2016
Migraine, with or without aura 131Apr 14, 2016
Mitochondrial DNA depletion syndrome 21Apr 14, 2016
Mitochondrial DNA depletion syndrome 4B, MNGIE type1Apr 14, 2016
Mitochondrial complex I deficiency1Apr 14, 2016
Mitochondrial trifunctional protein deficiency2Apr 14, 2016
Mowat-Wilson syndrome1Apr 14, 2016
Mucopolysaccharidosis type 71Apr 14, 2016
Mucopolysaccharidosis, MPS-III-B1Apr 14, 2016
Multiple sulfatase deficiency1Apr 14, 2016
Muscle AMP deaminase deficiency1Apr 14, 2016
Myofibrillar myopathy, BAG3-related1Apr 14, 2016
Myopathy, proximal, and ophthalmoplegia1Apr 14, 2016
Navajo neurohepatopathy1Apr 14, 2016
Nephronophthisis 11Apr 14, 2016
Nephronophthisis 41Apr 14, 2016
Neuroblastoma1Apr 14, 2016
Neuronal ceroid lipofuscinosis 11Apr 14, 2016
Nijmegen breakage syndrome-like disorder1Apr 14, 2016
Non-ketotic hyperglycinemia1Apr 14, 2016
Nonmedullary thyroid carcinoma 11Apr 14, 2016
Occult macular dystrophy3Apr 14, 2016
Odonto-onycho-dermal dysplasia2Apr 14, 2016
Orofacial cleft 51Apr 14, 2016
Osteogenesis imperfecta type I1Apr 14, 2016
Palmoplantar carcinoma, multiple self-healing1Apr 14, 2016
Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques1Apr 14, 2016
Parkinson disease 151Apr 14, 2016
Pendred syndrome2Apr 14, 2016
Peripheral arterial occlusive disease 11Apr 14, 2016
Periventricular nodular heterotopia 11Apr 14, 2016
Peroxisome biogenesis disorder 9B1Apr 14, 2016
Perrault syndrome 11Apr 14, 2016
Perrault syndrome 21Apr 14, 2016
Phenylketonuria3Apr 14, 2016
Pick's disease1Apr 14, 2016
Pigmentary pallidal degeneration1Apr 14, 2016
Pigmented nodular adrenocortical disease, primary, 24Apr 14, 2016
Plasminogen deficiency, type I1Apr 14, 2016
Platelet glycoprotein IV deficiency2Apr 14, 2016
Platelet-activating factor acetylhydrolase deficiency1Apr 14, 2016
Platelet-type bleeding disorder 161Apr 14, 2016
Polycystic kidney disease, adult type1Apr 14, 2016
Pontocerebellar hypoplasia type 61Apr 14, 2016
Preeclampsia/eclampsia 51Apr 14, 2016
Prekallikrein deficiency1Apr 14, 2016
Primary autosomal recessive microcephaly 51Apr 14, 2016
Primary autosomal recessive microcephaly 61Apr 14, 2016
Primary erythromelalgia2Apr 14, 2016
Primary hypertrophic osteoarthropathy, autosomal recessive 23Apr 14, 2016
Primary open angle glaucoma1Apr 14, 2016
Progressive familial heart block type IB1Apr 14, 2016
Progressive sclerosing poliodystrophy1Apr 14, 2016
Progressive supranuclear ophthalmoplegia1Apr 14, 2016
Proline dehydrogenase deficiency1Apr 14, 2016
Propionic acidemia3Apr 14, 2016
Prostate cancer, hereditary, 21Apr 14, 2016
Pulmonary Hypertension, Primary, 11Apr 14, 2016
Pustular psoriasis, generalized1Apr 14, 2016
Pyruvate kinase deficiency of red cells1Apr 14, 2016
Rapadilino syndrome1Apr 14, 2016
Recessive dystrophic epidermolysis bullosa3Apr 14, 2016
Renal tubular acidosis with progressive nerve deafness1Apr 14, 2016
Retinitis pigmentosa 11Apr 14, 2016
Retinitis pigmentosa 401Apr 14, 2016
Retinitis pigmentosa 481Apr 14, 2016
Retinitis pigmentosa 494Apr 14, 2016
Rh-null, regulator type1Apr 14, 2016
Rhizomelic chondrodysplasia punctata type 11Apr 14, 2016
Rothmund-Thomson syndrome1Apr 14, 2016
SUDDEN INFANT DEATH SYNDROME1Apr 14, 2016
Saldino-Mainzer syndrome1Apr 14, 2016
Schizophrenia 41Apr 14, 2016
Seckel syndrome 51Apr 14, 2016
Seckel syndrome 61Apr 14, 2016
Selective tooth agenesis 11Apr 14, 2016
Senior-Loken syndrome 11Apr 14, 2016
Senior-Loken syndrome 41Apr 14, 2016
Severe myoclonic epilepsy in infancy1Apr 14, 2016
Short stature, idiopathic, autosomal1Apr 14, 2016
Short-rib thoracic dysplasia 3 with or without polydactyly1Apr 14, 2016
Smith-Lemli-Opitz syndrome1Apr 14, 2016
Spastic paraplegia 11, autosomal recessive1Apr 14, 2016
Spherocytosis type 21Apr 14, 2016
Spherocytosis type 51Apr 14, 2016
Spinocerebellar ataxia, autosomal recessive 121Apr 14, 2016
Stargardt disease 11Apr 14, 2016
Surfactant metabolism dysfunction, pulmonary, 21Apr 14, 2016
Syndromic X-linked intellectual disability Turner type1Apr 14, 2016
Three M syndrome 21Apr 14, 2016
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant2Apr 14, 2016
Thyroglobulin synthesis defect1Apr 14, 2016
Thyroid dyshormonogenesis 62Apr 14, 2016
Thyroxine-binding globulin deficiency1Apr 14, 2016
Tooth agenesis, selective, 42Apr 14, 2016
Torsion dystonia 61Apr 14, 2016
Treacher Collins syndrome 11Apr 14, 2016
Treacher Collins syndrome 31Apr 14, 2016
Trimethylaminuria2Apr 14, 2016
Tuberous sclerosis 11Apr 14, 2016
Tumoral calcinosis, familial, normophosphatemic2Apr 14, 2016
Type 2 diabetes mellitus3Apr 14, 2016
Tyrosine kinase 2 deficiency1Apr 14, 2016
UDPglucose-4-epimerase deficiency1Apr 14, 2016
Upshaw-Schulman syndrome1Apr 14, 2016
Usher syndrome, type 2A5Apr 14, 2016
Usher syndrome, type 2C1Apr 14, 2016
Ventricular septal defect 11Apr 14, 2016
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness1Apr 14, 2016
Vesicoureteral reflux 21Apr 14, 2016
Vitamin b12 plasma level quantitative trait locus 11Apr 14, 2016
Wilson disease4Apr 14, 2016
Winchester syndrome1Apr 14, 2016
Wolff-Parkinson-White pattern1Apr 14, 2016
Xeroderma pigmentosum variant type2Apr 14, 2016
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