| Surfactant metabolism dysfunction type 3, ABCA3 |
ABCA3 |
610921 |
| Cantú Syndrome, ABCC9 |
ABCC9 |
239850 |
| Congenital disorder of glycosylation type 1p (CDG1p), ALG11 |
ALG11 |
613661 |
| Susceptibility to Breast cancer |
ATM |
114480 |
| Ataxia-telangiectasia |
ATM |
208900 |
| Oculofaciocardiodental Syndrome, |
BCOR |
300166 |
| Biotinidase deficiency |
BTD |
253260 |
| Cortical dysplasia-focal epilepsy syndrome (CDFE), CNTNAP2 |
CNTNAP2 |
610042 |
| Susceptibility to Prostate cancer |
CDH1 |
176807 |
| Early infantile epileptic encephalopathy type 2 (EIEE2), CDKL5 |
CDKL5 |
300203 |
| Rett Syndrome, atypical, CDKL5 |
CDKL5 |
300203 |
| Breast Cancer, Hereditary, CHEK2 |
CHEK2 |
114480 |
| Congenital disorder of glycosylation type 3, (CDG3), COG6 |
COG6 |
614576 |
| Progressive Myoclonic Epilepsy Type 1 (EPM1): CSTB gene |
CSTB |
601145 |
| Unverricht-Lundborg disease(EPM1) |
CSTB |
254800 |
| Glomerulopathy with fibronectin deposits 2 |
FN1 |
601894 |
| Alveolar capillary dysplasia with misalignment of pulmonary veins |
FOXF1 |
265380 |
| Rett syndrome, congenital variant |
FOXG1 |
613454 |
| Glucose-6-phosphate dehydrogenase deficiency, G6PD |
G6PD |
300908 |
| Hypoparathyroidism, Sensorineural deafness and renal disease (HDR), GATA3 |
GATA3 |
146255 |
| Glycerol kinase deficiency |
GK |
307030 |
| Hemophilia A (HEMA) |
F8 |
306700 |
| Hemochromatosis (HH) |
HFE |
235200 |
| Lesch-Nyhan syndrome, HPRT1 |
HPRT1 |
300322 |
| Tyrosinemia type 1, FAH |
FAH |
276700 |
| Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome |
ITGA3 |
614748 |
| Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) |
ACADM |
201450 |
| Multiple Endocrine Neoplasia Type 1 (MEN1) |
MEN1 |
131100 |
| Multiple Endocrine Neoplasia Type 2A (MEN2A) |
RET |
171400 |
| Metachromatic Leukodystrophia (MLD) |
ARSA |
250100 |
| Lynch syndrome (formerly known as HNPCC), MLH1 |
MLH1 |
609310 |
| Lynch syndrome (formerly known as HNPCC), MSH2 |
MSH2 |
120435 |
| Lynch syndrome (formerly known as HNPCC), MSH6 |
MSH6 |
600678 |
| Microvillus inclusion disease (MVID) of Diarrhea 2, with microvillus atrophy (DIAR2), MYO5B |
MYO5B |
251850 |
| Pitt Hopkins-like Syndrome 2, NRXN1 |
NRXN1 |
600565 |
| Hypertension and brachydactyly syndrome / Bilginturan syndrome, PDE3A |
PDE3A |
112410 |
| Pyruvate Kinase Deficiency (PK) |
PKLR |
266200 |
| Phenylketonuria Type 1. Phenylalanin Hydroxylase Deficiency (PKU) |
PAH |
261600 |
| Congenital disorder of glycosylation type Ia, (CDG1a), PMM2 |
PMM2 |
212065 |
| Pompe Disease (POMPE) |
GAA |
232300 |
| Cowden syndrome 1 |
PTEN |
601728 |
| Phenylketonuria Type 3. 6-PyruvoylTetrahydroPterin Synthase Deficiency (PTPS) |
PTS |
261640 |
| Rett Syndrome (RETT) |
MECP2 |
312750 |
| Cleidocranial Dysplasia, RUNX2 |
RUNX2 |
119600 |
| Congenital myopathy 1B, autosomal recessive |
RYR1 |
180901 |
| Gitelman syndrome, SLC12A3 |
SLC12A3 |
263800 |
| Familial Hyperinsulinemic Hypoglycemia type 7 (HHF7), SLC16A1 |
SLC16A1 |
610021 |
| Hartnup disorder, SLC6A19 |
SLC6A19 |
234500 |
| Dravet Syndrome (SCN1A) |
SCN1A |
607208 |
| Genetic Epilepsy with Febrile Seizures plus (GEFS+), SCN1A |
SCN1A |
182389 |
| Brugada syndrome type 1/ Long QT syndrome type 3, SCN5A |
SCN5A |
601144 |
| Pancreatic, Breast & Hepatocellular cancer, somatic / Adrenocaortical carcinoma pediatric |
TP53 |
191170 |
| Currarino syndrome, MNX1 |
MNX1 (HLXB9) |
176450 |
| Hereditary Transthyretin-related Amyloidosis (TTR) |
TTR |
105210 |
| Gilbert syndrome, UGT1A1 |
UGT1A1 |
143500 |
| Von Hippel-Lindau Disease (VHL) |
VHL |
193300 |
| Cohen syndrome |
VPS13B |
216550 |
| von Willebrand disease, type 1-3 |
VWF |
613160 |
| Wilson Disease, ATP7B |
ATP7B |
277900 |
| Fuhrmann syndrome, WNT7A |
WNT7A |
228930 |
| Fabry Disease Alpha-galactosidase A deficiency (FABRY) |
GLA |
301500 |