| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Autosomal recessive Alport syndrome |
Likely pathogenic; Pathogenic |
rs121909490 |
RCV006449352 |
| Inherited focal segmental glomerulosclerosis |
Pathogenic |
rs1191455921 |
RCV003994037 |
| Lipoid nephrosis |
Likely pathogenic; Pathogenic |
rs1191455921 |
RCV002260131 |
| LMX1B-related disorder |
Pathogenic; Likely pathogenic |
rs2490517671, rs121909491, rs2030200763, rs2490682185, rs2490687634, rs1835285052, rs1835287461, rs1835285480, rs2490689989, rs2490682241, rs1191455921 |
RCV003973630 RCV004748508 RCV003399638 RCV003416732 RCV003402815 RCV003421119 RCV004723374 RCV003919621 RCV003919785 RCV003904566 RCV003967191 RCV003915707 |
| Nail-patella syndrome |
Pathogenic; Likely pathogenic |
rs2118823366, rs2118987040, rs2490688207, rs2490694993, rs864621969, rs121909486, rs121909487, rs2490689093, rs121909488, rs1266786790, rs121909489, rs121909490, rs121909491, rs1427331961, rs121909492, rs2490517188, rs2490518285, rs886039576, rs1057516196, rs1114167362, rs1554721879, rs1554728698, rs1191455921, rs1564143881, rs1564169730, rs1588307152, rs1588309277, rs1588307464, rs1588307482, rs1588309269, rs1588309293, rs1588257904, rs1588307460, rs1588307477, rs1588307486, rs1588307501, rs1056252582, rs2030220818, rs1588307140, rs1835287406 View all (25 more) |
RCV004554880 RCV005415479 RCV002291473 RCV002470420 RCV000205274 RCV000007415 RCV000007416 RCV000007417 RCV000007418 RCV000007419 RCV000007420 RCV000007421 RCV000007422 RCV000007423 RCV000007425 RCV000007426 RCV003228792 RCV000763188 RCV000408886 RCV000490644 RCV000505642 RCV000763187 RCV001281185 RCV000625602 RCV000714975 RCV000736026 RCV000824858 RCV000856584 RCV000857318 RCV001809884 RCV000995798 RCV000995799 RCV000995800 RCV001027509 RCV001027510 RCV001027511 RCV001027512 RCV001027513 RCV001027514 RCV001029968 RCV001253358 RCV001254094 RCV002499464 |
| Nail-patella-like renal disease |
Likely pathogenic; Pathogenic |
rs121909486, rs121909489, rs121909491, rs2490695028, rs1191455921, rs121909492, rs1588307140, rs1835287406 |
RCV005049319 RCV005049320 RCV005042000 RCV003992021 RCV001807647 RCV005047122 RCV001807651 RCV002485994 RCV002499464 |
| Nephrotic syndrome |
Pathogenic |
rs1191455921 |
RCV001328157 |
| Neurodevelopmental disorder |
Likely pathogenic |
rs2118823895 |
RCV001780071 |
|
| Disease Name |
Relationship Type |
References |
| Absent patella |
Associate |
37930140 |
| Anonychia onychodystrophy |
Associate |
37930140 |
| Autistic Disorder |
Associate |
21901133 |
| Bone Diseases |
Associate |
26395556 |
| Chorea |
Associate |
32949189 |
| Chromosome Disorders |
Associate |
26395556 |
| Clubfoot |
Associate |
37930140 |
| Esophageal Neoplasms |
Associate |
31545286 |
| Flatfoot |
Associate |
35487415 |
| Glaucoma |
Associate |
16825280, 21850167, 28059119, 29452408, 29617998, 34440426, 37930140 |
| Glaucoma Open Angle |
Associate |
17515884, 21850167, 29449654, 29452408, 34440426 |
| Glioma |
Associate |
32960116, 34153159 |
| Glomerulosclerosis Focal Segmental |
Associate |
28059119, 29138824, 32791958, 33814499, 39490407 |
| Hereditary renal agenesis |
Associate |
29973660 |
| Iliac Aneurysm |
Associate |
37930140 |
| Kidney Diseases |
Associate |
28059119, 32949189, 33055489, 33814499, 34076843, 37930140, 39490407 |
| Kidney Failure Chronic |
Associate |
19194568, 29973660 |
| Mood Disorders |
Associate |
21850167 |
| Nail Patella Syndrome |
Associate |
12624132, 16825280, 17515884, 19194568, 19721866, 20531206, 21850167, 23687361, 25380522, 25408626, 25898926, 28335748, 28383544, 29664512, 29973660, 30084575, 31053111, 31513274, 32949189, 34076843, 35769074, 37930140 View all (7 more) |
| Neoplasms |
Stimulate |
31387183, 32960116 |
| Nephritis Hereditary |
Associate |
33814499 |
| Nephrotic Syndrome |
Associate |
16050398, 28335748 |
| Nervous System Diseases |
Associate |
36835019 |
| Neuroinflammatory Diseases |
Associate |
37450566 |
| Obesity |
Associate |
31936053, 32357537, 33315090 |
| Ocular Hypertension |
Associate |
21850167 |
| Osteoarthritis |
Associate |
37749624 |
| Osteoarthritis Hip |
Associate |
37749624 |
| Osteoarthritis Knee |
Associate |
37749624 |
| Overweight |
Associate |
32357537 |
| Patella Fracture |
Associate |
34076843 |
| Patellar Dislocation |
Associate |
26395556, 28059119 |
| Pediatric acute onset neuropsychiatric syndrome |
Associate |
30084575 |
| Prostatic Neoplasms |
Associate |
35832649 |
| Salcedo syndrome |
Associate |
23687361, 28059119, 32791958 |
| Schizophrenia |
Associate |
30084575 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
31387183 |
| Thyroid Cancer Papillary |
Associate |
35342753 |
| Vesico Ureteral Reflux |
Associate |
29973660 |
| Weight Loss |
Associate |
33315090 |
|