| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Neu-Laxova syndrome 2 |
Likely pathogenic; Pathogenic |
rs376824714, rs2118643983, rs1828216198, rs2118681775, rs199998249, rs148598272, rs765723196, rs772958302, rs587777747, rs118203967, rs587777776, rs587777777, rs919827103, rs2489629517, rs2489697040, rs2489696870, rs2489639860, rs1828184824, rs2489650770, rs2489644879, rs756304890, rs2489640547, rs2489629497, rs2489645698, rs1057517807, rs1564012541, rs1008314756 View all (12 more) |
RCV002032850 RCV002046923 RCV002017210 RCV001939663 RCV001966488 RCV001972869 RCV001901588 RCV002045140 RCV003586120 RCV003586121 RCV000144446 RCV000144447 RCV003060182 RCV002952911 RCV002953061 RCV003013390 RCV003016652 RCV003033065 RCV003777339 RCV003748487 RCV003586619 RCV003587095 RCV003843829 RCV005064943 RCV000819927 RCV000702162 RCV000810596 |
| Neurometabolic disorder due to serine deficiency |
Likely pathogenic; Pathogenic |
rs376824714 |
RCV005361710 |
| PSAT deficiency |
Likely pathogenic; Pathogenic |
rs148598272, rs587777747, rs118203967, rs2489629517, rs1554686365, rs1828113460 |
RCV001808201 RCV000001136 RCV000001137 RCV005399030 RCV003388586 RCV004004918 |
| PSAT1-related disorder |
Likely pathogenic; Pathogenic |
rs118203967, rs2489697040, rs2489644879, rs2489645698, rs1057517807 |
RCV006263611 RCV003230758 RCV003331902 RCV003994858 RCV005238963 |
|
| Disease Name |
Relationship Type |
References |
| Breast Neoplasms |
Associate |
33112838, 34990474, 35045283, 35231654, 40691196 |
| Carcinoma Ductal |
Associate |
25053597 |
| Carcinoma Hepatocellular |
Associate |
30176945 |
| Carcinoma Lobular |
Associate |
25053597 |
| Carcinoma Medullary |
Inhibit |
27277113 |
| Carcinoma Non Small Cell Lung |
Associate |
37919070 |
| Carcinoma Renal Cell |
Associate |
22321069, 32737333, 33564363 |
| Cell Transformation Neoplastic |
Stimulate |
18221502 |
| Colitis Ulcerative |
Associate |
39596612 |
| Colonic Neoplasms |
Stimulate |
18221502 |
| Colorectal Neoplasms |
Associate |
18221502, 25206290, 31268166, 35615948, 36821417 |
| COVID 19 |
Associate |
33971585 |
| Diabetes Mellitus |
Associate |
31234367 |
| Endocrine System Diseases |
Associate |
33112838 |
| Endometrial Neoplasms |
Stimulate |
36906716 |
| Genetic Diseases Inborn |
Associate |
32077105, 37812589 |
| Glioblastoma |
Associate |
37823569, 38098117, 40258222 |
| Growth Disorders |
Associate |
37812589 |
| Hypoxia |
Stimulate |
37823569, 40258222 |
| Hypoxia Brain |
Associate |
40258222 |
| Ichthyosis |
Associate |
34089226 |
| Intellectual Disability |
Associate |
32077105, 37812589 |
| Leukemia Biphenotypic Acute |
Associate |
37951487 |
| Liver Neoplasms |
Associate |
30176945 |
| Lymphoma |
Associate |
38038618 |
| Lymphoma Mantle Cell |
Stimulate |
27277113 |
| Melanoma |
Associate |
28500236, 40691196 |
| Methylmalonic acidemia |
Associate |
31449969 |
| Myelodysplastic Syndromes |
Associate |
39186541 |
| Neoplasm Metastasis |
Associate |
18221502 |
| Neoplasms |
Associate |
22321069, 28522855, 35045283, 36615660, 36906716, 37919070, 39186541, 40258222, 40691196 |
| Nervous System Diseases |
Associate |
34089226 |
| Neu Laxova syndrome |
Associate |
25152457, 32077105, 37812589 |
| Neuroblastoma |
Associate |
18797883 |
| Obesity |
Associate |
31234367 |
| Osteosarcoma |
Associate |
33291071, 40691196 |
| Ovarian Diseases |
Associate |
37533289 |
| Ovarian Neoplasms |
Associate |
22321069 |
| Pancreatic Neoplasms |
Associate |
31706267 |
| Phosphoserine Aminotransferase Deficiency |
Inhibit |
17436247 |
| Phosphoserine Aminotransferase Deficiency |
Associate |
17436247, 34089226 |
| Polycystic Ovary Syndrome |
Associate |
24279306 |
| Primary hyperoxaluria type 1 |
Associate |
32077105, 37627284, 37812589 |
| Propionic Acidemia |
Associate |
31449969 |
| Sarcoma |
Associate |
39392257 |
| Seizures |
Associate |
32077105 |
| Thyroid Cancer Papillary |
Associate |
27277113 |
| Thyroid Neoplasms |
Associate |
27277113 |
| Triple Negative Breast Neoplasms |
Associate |
24390667 |
|