NPHLOP1
MCID: NPH056
MIFTS: 43

Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 (NPHLOP1)

Categories: Bone diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

MalaCards integrated aliases for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1:

Name: Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 57 72 29 13 6
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 44 70
Hypophosphatemic Nephrolithiasis/osteoporosis 1 12 15
Nphlop1 57 72
Nephrolithiasis/osteoporosis, Hypophosphatemic, Type 1 39
Hypophosphatemia, Familial 44

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
nephrolithiasis/osteoporosis, hypophosphatemic, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080077
OMIM® 57 612286
OMIM Phenotypic Series 57 PS612286
MedGen 41 C2676786
UMLS 70 C2676786

Summaries for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

UniProtKB/Swiss-Prot : 72 Nephrolithiasis/osteoporosis, hypophosphatemic, 1: A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis.

MalaCards based summary : Nephrolithiasis/osteoporosis, Hypophosphatemic, 1, also known as nephrolithiasis-osteoporosis, hypophosphatemic, 1, is related to hereditary hypophosphatemic rickets and rickets. An important gene associated with Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 is SLC34A1 (Solute Carrier Family 34 Member 1), and among its related pathways/superpathways are Mineral absorption and Parathyroid hormone synthesis, secretion and action. The drugs Parathyroid hormone and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and skin, and related phenotypes are osteopenia and hypophosphatemia

Disease Ontology : 12 A hypophosphatemic nephrolithiasis/osteoporosis that has material basis in heterozygous mutation in the SLC34A1 gene on chromosome 5q35.

More information from OMIM: 612286 PS612286

Related Diseases for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

Diseases in the Hypophosphatemic Nephrolithiasis/osteoporosis family:

Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2

Diseases related to Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 hereditary hypophosphatemic rickets 30.2 SLC34A3 SLC34A1
2 rickets 28.6 SLC34A3 SLC34A1 PTH KL FGF23
3 hypophosphatemia 28.6 SLC34A3 SLC34A1 PTH KL FGF23
4 hypophosphatemic rickets, x-linked dominant 28.6 SLC34A3 SLC34A1 PTH KL FGF23
5 hypophosphatemic nephrolithiasis/osteoporosis 10.2 SLC34A1 F12
6 angioedema, hereditary, type i 10.2 SLC34A1 F12
7 angioedema, hereditary, type iii 10.2 SLC34A1 F12
8 c1 inhibitor deficiency 10.1 SLC34A1 F12
9 fanconi renotubular syndrome 2 10.1 SLC34A3 SLC34A1
10 factor xii deficiency 10.1 SLC34A1 F12
11 dent disease 1 10.0 SLC34A3 SLC34A1
12 blount's disease 10.0 SLC34A3 FGF23
13 calcinosis 10.0 KL FGF23
14 conjunctival deposit 10.0 KL FGF23
15 hepatocellular clear cell carcinoma 9.9 KL FGF23
16 hypercalcemia, infantile, 1 9.9 SLC34A1 PTH
17 familial tumoral calcinosis 9.9 KL FGF23
18 hyperlipoproteinemia, type v 9.9 KL FGF23
19 skin atrophy 9.9 KL FGF23
20 schimmelpenning-feuerstein-mims syndrome 9.8 SLC34A3 FGF23
21 mccune-albright syndrome 9.8 SLC34A1 FGF23
22 pulmonary alveolar microlithiasis 9.8 SLC34A3 SLC34A1 FGF23
23 hypophosphatemic rickets, x-linked recessive 9.8 SLC34A3 SLC34A1 FGF23
24 spondylosis 9.8 PTH KL
25 oncogenic osteomalacia 9.8 PTH FGF23
26 pseudohypoparathyroidism, type ib 9.8 SLC34A3 PTH
27 calciphylaxis 9.8 PTH FGF23
28 osteitis fibrosa 9.8 PTH FGF23
29 contractural arachnodactyly, congenital 9.7 PTH ACTB
30 osteoglophonic dysplasia 9.7 SLC34A3 KL FGF23
31 arterial calcification of infancy 9.7 SLC34A3 KL FGF23
32 hypophosphatasia 9.7 PTH FGF23
33 renal osteodystrophy 9.7 PTH FGF23
34 bartter disease 9.7 SLC34A3 SLC34A1 PTH
35 hypocalcemia, autosomal dominant 1 9.6 PTH FGF23
36 tracheal calcification 9.5 PTH KL FGF23
37 hypervitaminosis d 9.5 PTH KL FGF23
38 parathyroid gland disease 9.5 PTH KL FGF23
39 secondary hyperparathyroidism 9.5 PTH KL FGF23
40 hyperparathyroidism 9.5 PTH KL FGF23
41 primary hyperparathyroidism 9.5 PTH KL FGF23
42 end stage renal disease 9.5 PTH KL FGF23
43 bone disease 9.5 SLC34A3 PTH FGF23
44 osteochondrodysplasia 9.4 PTH FGF23 ACTB
45 bone resorption disease 9.4 PTH FGF23
46 osteomalacia 9.4 SLC34A3 SLC34A1 PTH FGF23
47 fanconi syndrome 9.4 SLC34A3 SLC34A1 PTH FGF23
48 osteoporosis 9.4 SLC34A1 PTH KL FGF23
49 hyperphosphatemia 9.4 SLC34A1 PTH KL FGF23
50 dental abscess 9.3 SLC34A3 PTH KL FGF23

Graphical network of the top 20 diseases related to Nephrolithiasis/osteoporosis, Hypophosphatemic, 1:



Diseases related to Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

Symptoms & Phenotypes for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

Human phenotypes related to Nephrolithiasis/osteoporosis, Hypophosphatemic, 1:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 osteopenia 31 HP:0000938
2 hypophosphatemia 31 HP:0002148
3 osteoporosis 31 HP:0000939
4 nephrolithiasis 31 HP:0000787
5 hypercalciuria 31 HP:0002150
6 increased susceptibility to fractures 31 HP:0002659
7 hyperphosphaturia 31 HP:0003109
8 renal phosphate wasting 31 HP:0000117

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal:
osteopenia
osteoporosis
increased susceptibility to fractures

Genitourinary Kidneys:
nephrolithiasis
renal phosphate wasting

Laboratory Abnormalities:
hypophosphatemia
hypercalciuria
hyperphosphaturia
increased serum 1,25-dihydroxyvitamin d

Skeletal Spine:
spinal deformity

Clinical features from OMIM®:

612286 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Nephrolithiasis/osteoporosis, Hypophosphatemic, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.17 ACTB F12 FGF23 KL PTH SLC34A1

Drugs & Therapeutics for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

Drugs for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
3 Vitamins Phase 3
4 Hormones Phase 3
5 Calciferol Phase 3
6
Sevelamer Approved 52757-95-6
7
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
8 Hydroxycholecalciferols
9 Micronutrients
10 Trace Elements
11 Nutrients
12 Chelating Agents
13 Caseins
14 Soy Bean

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Role of Parathyroid Hormone in the Pathogenesis of Skeletal Disease in X-linked Hypophosphatemic Rickets (XLH) Completed NCT00417612 Phase 3 Paricalcitol
2 Hypophosphatemic Rickets in Norway Unknown status NCT01057186 Sevelamer
3 Effect of Dietary Protein Source on Phosphaturia, PTH and FGF23 in Patients With CKD 3 and 4 Completed NCT00764816

Search NIH Clinical Center for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

Cochrane evidence based reviews: hypophosphatemia, familial

Genetic Tests for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

Genetic tests related to Nephrolithiasis/osteoporosis, Hypophosphatemic, 1:

# Genetic test Affiliating Genes
1 Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 29 SLC34A1

Anatomical Context for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

MalaCards organs/tissues related to Nephrolithiasis/osteoporosis, Hypophosphatemic, 1:

40
Bone, Kidney, Skin

Publications for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

Articles related to Nephrolithiasis/osteoporosis, Hypophosphatemic, 1:

# Title Authors PMID Year
1
Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. 6 57
12324554 2002
2
Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. 57
9560283 1998
3
Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria. 61
32311027 2020

Variations for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

ClinVar genetic disease variations for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1:

6 (show top 50) (show all 62)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC34A1 NM_003052.5(SLC34A1):c.142_143delinsTT (p.Ala48Phe) Indel Pathogenic 12931 rs121918610 GRCh37: 5:176813020-176813021
GRCh38: 5:177386019-177386020
2 SLC34A1 NM_003052.5(SLC34A1):c.439G>A (p.Val147Met) SNV Pathogenic 12932 rs121918611 GRCh37: 5:176813474-176813474
GRCh38: 5:177386473-177386473
3 SLC34A1 NM_003052.5(SLC34A1):c.934C>T (p.Gln312Ter) SNV Pathogenic 433538 rs1554095568 GRCh37: 5:176815371-176815371
GRCh38: 5:177388370-177388370
4 SLC34A1 NM_003052.5(SLC34A1):c.1006+1G>A SNV Uncertain significance 234928 rs200095793 GRCh37: 5:176820765-176820765
GRCh38: 5:177393764-177393764
5 SLC34A1 NM_003052.5(SLC34A1):c.*406C>T SNV Uncertain significance 907754 GRCh37: 5:176825693-176825693
GRCh38: 5:177398692-177398692
6 SLC34A1 NM_003052.5(SLC34A1):c.*505C>T SNV Uncertain significance 907756 GRCh37: 5:176825792-176825792
GRCh38: 5:177398791-177398791
7 SLC34A1 NM_003052.5(SLC34A1):c.*239C>A SNV Uncertain significance 352981 rs768911630 GRCh37: 5:176825526-176825526
GRCh38: 5:177398525-177398525
8 SLC34A1 NM_003052.5(SLC34A1):c.110-6C>T SNV Uncertain significance 352954 rs773115741 GRCh37: 5:176812982-176812982
GRCh38: 5:177385981-177385981
9 SLC34A1 NM_003052.5(SLC34A1):c.*79G>C SNV Uncertain significance 352978 rs886060468 GRCh37: 5:176825366-176825366
GRCh38: 5:177398365-177398365
10 SLC34A1 NM_003052.5(SLC34A1):c.*392A>G SNV Uncertain significance 352984 rs886060470 GRCh37: 5:176825679-176825679
GRCh38: 5:177398678-177398678
11 SLC34A1 NM_003052.5(SLC34A1):c.-48G>C SNV Uncertain significance 352951 rs886060466 GRCh37: 5:176811488-176811488
GRCh38: 5:177384487-177384487
12 SLC34A1 NM_003052.5(SLC34A1):c.*323G>A SNV Uncertain significance 352982 rs886060469 GRCh37: 5:176825610-176825610
GRCh38: 5:177398609-177398609
13 SLC34A1 NM_003052.5(SLC34A1):c.*60G>A SNV Uncertain significance 352977 rs886060467 GRCh37: 5:176825347-176825347
GRCh38: 5:177398346-177398346
14 SLC34A1 NM_003052.5(SLC34A1):c.-68G>A SNV Uncertain significance 352950 rs774774202 GRCh37: 5:176811468-176811468
GRCh38: 5:177384467-177384467
15 SLC34A1 NM_003052.5(SLC34A1):c.1466A>G (p.Tyr489Cys) SNV Uncertain significance 904365 GRCh37: 5:176824833-176824833
GRCh38: 5:177397832-177397832
16 SLC34A1 NM_003052.5(SLC34A1):c.*52C>T SNV Uncertain significance 904366 GRCh37: 5:176825339-176825339
GRCh38: 5:177398338-177398338
17 SLC34A1 NM_003052.5(SLC34A1):c.315A>C (p.Pro105=) SNV Uncertain significance 905095 GRCh37: 5:176813277-176813277
GRCh38: 5:177386276-177386276
18 SLC34A1 NM_003052.5(SLC34A1):c.*65G>A SNV Uncertain significance 905163 GRCh37: 5:176825352-176825352
GRCh38: 5:177398351-177398351
19 SLC34A1 NM_003052.5(SLC34A1):c.*196C>T SNV Uncertain significance 905164 GRCh37: 5:176825483-176825483
GRCh38: 5:177398482-177398482
20 SLC34A1 NM_003052.5(SLC34A1):c.*212G>T SNV Uncertain significance 905165 GRCh37: 5:176825499-176825499
GRCh38: 5:177398498-177398498
21 SLC34A1 NM_003052.5(SLC34A1):c.*241C>T SNV Uncertain significance 906754 GRCh37: 5:176825528-176825528
GRCh38: 5:177398527-177398527
22 SLC34A1 NM_003052.5(SLC34A1):c.*301T>C SNV Uncertain significance 906755 GRCh37: 5:176825588-176825588
GRCh38: 5:177398587-177398587
23 SLC34A1 NM_003052.5(SLC34A1):c.94G>A (p.Val32Met) SNV Uncertain significance 904292 GRCh37: 5:176812836-176812836
GRCh38: 5:177385835-177385835
24 SLC34A1 NM_003052.5(SLC34A1):c.*331A>G SNV Uncertain significance 906757 GRCh37: 5:176825618-176825618
GRCh38: 5:177398617-177398617
25 SLC34A1 NM_003052.5(SLC34A1):c.1174+9C>T SNV Likely benign 907704 GRCh37: 5:176821205-176821205
GRCh38: 5:177394204-177394204
26 SLC34A1 NM_003052.5(SLC34A1):c.1443C>T (p.Asn481=) SNV Likely benign 904364 GRCh37: 5:176824810-176824810
GRCh38: 5:177397809-177397809
27 SLC34A1 NM_003052.5(SLC34A1):c.397G>A (p.Ala133Thr) SNV Likely benign 905096 GRCh37: 5:176813432-176813432
GRCh38: 5:177386431-177386431
28 SLC34A1 NM_003052.5(SLC34A1):c.654G>A (p.Ala218=) SNV Likely benign 352963 rs150592440 GRCh37: 5:176815004-176815004
GRCh38: 5:177388003-177388003
29 SLC34A1 NM_003052.5(SLC34A1):c.123C>T (p.Ile41=) SNV Likely benign 352955 rs759907707 GRCh37: 5:176813001-176813001
GRCh38: 5:177386000-177386000
30 SLC34A1 NM_003052.5(SLC34A1):c.883T>A (p.Ser295Thr) SNV Likely benign 352967 rs763096294 GRCh37: 5:176815320-176815320
GRCh38: 5:177388319-177388319
31 SLC34A1 NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val) SNV Likely benign 352960 rs148976897 GRCh37: 5:176813433-176813433
GRCh38: 5:177386432-177386432
32 SLC34A1 NM_003052.5(SLC34A1):c.1469C>T (p.Pro490Leu) SNV Likely benign 352972 rs372577906 GRCh37: 5:176824836-176824836
GRCh38: 5:177397835-177397835
33 SLC34A1 NM_003052.5(SLC34A1):c.644G>A (p.Arg215Gln) SNV Likely benign 906677 GRCh37: 5:176814874-176814874
GRCh38: 5:177387873-177387873
34 SLC34A1 NM_003052.5(SLC34A1):c.437C>T (p.Pro146Leu) SNV Benign 352961 rs548844573 GRCh37: 5:176813472-176813472
GRCh38: 5:177386471-177386471
35 SLC34A1 NM_003052.5(SLC34A1):c.774T>C (p.His258=) SNV Benign 352965 rs5030873 GRCh37: 5:176815124-176815124
GRCh38: 5:177388123-177388123
36 SLC34A1 NM_003052.5(SLC34A1):c.284G>A (p.Arg95His) SNV Benign 252613 rs145798898 GRCh37: 5:176813246-176813246
GRCh38: 5:177386245-177386245
37 SLC34A1 NM_003052.5(SLC34A1):c.1348G>A (p.Gly450Ser) SNV Benign 352970 rs34044544 GRCh37: 5:176824007-176824007
GRCh38: 5:177397006-177397006
38 SLC34A1 NM_003052.5(SLC34A1):c.388+10G>C SNV Benign 780592 rs59750868 GRCh37: 5:176813360-176813360
GRCh38: 5:177386359-177386359
39 SLC34A1 NM_003052.5(SLC34A1):c.782G>A (p.Arg261His) SNV Benign 352966 rs144306414 GRCh37: 5:176815132-176815132
GRCh38: 5:177388131-177388131
40 SLC34A1 NM_003052.5(SLC34A1):c.*431C>T SNV Benign 907755 GRCh37: 5:176825718-176825718
GRCh38: 5:177398717-177398717
41 F12 , SLC34A1 NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=) SNV Benign 352974 rs7379524 GRCh37: 5:176825002-176825002
GRCh38: 5:177398001-177398001
42 F12 , SLC34A1 NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) SNV Benign 352975 rs34225933 GRCh37: 5:176825069-176825069
GRCh38: 5:177398068-177398068
43 F12 , SLC34A1 NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) SNV Benign 352976 rs148575220 GRCh37: 5:176825086-176825086
GRCh38: 5:177398085-177398085
44 F12 , SLC34A1 NM_003052.5(SLC34A1):c.*179G>A SNV Benign 352979 rs141664220 GRCh37: 5:176825466-176825466
GRCh38: 5:177398465-177398465
45 F12 , SLC34A1 NM_003052.5(SLC34A1):c.*202A>C SNV Benign 352980 rs6556319 GRCh37: 5:176825489-176825489
GRCh38: 5:177398488-177398488
46 F12 , SLC34A1 NM_003052.5(SLC34A1):c.*361T>C SNV Benign 352983 rs539754545 GRCh37: 5:176825648-176825648
GRCh38: 5:177398647-177398647
47 F12 , SLC34A1 NM_003052.5(SLC34A1):c.*485G>A SNV Benign 352985 rs143160780 GRCh37: 5:176825772-176825772
GRCh38: 5:177398771-177398771
48 SLC34A1 NM_003052.5(SLC34A1):c.1416+5G>A SNV Benign 352971 rs202081023 GRCh37: 5:176824080-176824080
GRCh38: 5:177397079-177397079
49 F12 , SLC34A1 NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) SNV Benign 352973 rs199565633 GRCh37: 5:176824850-176824850
GRCh38: 5:177397849-177397849
50 SLC34A1 NM_003052.5(SLC34A1):c.1172C>T (p.Thr391Met) SNV Benign 352968 rs143201338 GRCh37: 5:176821194-176821194
GRCh38: 5:177394193-177394193

UniProtKB/Swiss-Prot genetic disease variations for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1:

72
# Symbol AA change Variation ID SNP ID
1 SLC34A1 p.Ala48Phe VAR_024765 rs121918610
2 SLC34A1 p.Val147Met VAR_024766 rs121918611

Expression for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

Search GEO for disease gene expression data for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1.

Pathways for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

Pathways related to Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.09 SLC34A3 SLC34A1
2 11.05 SLC34A3 SLC34A1 PTH KL FGF23
3 10.98 PTH KL
4 10.84 F12 ACTB
5 10.1 PTH FGF23

GO Terms for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

Cellular components related to Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.35 PTH KL FGF23 F12 ACTB
2 apical plasma membrane GO:0016324 9.33 SLC34A3 SLC34A1 KL
3 brush border GO:0005903 9.32 SLC34A3 SLC34A1
4 brush border membrane GO:0031526 9.26 SLC34A3 SLC34A1
5 vesicle GO:0031982 8.8 SLC34A3 SLC34A1 ACTB

Biological processes related to Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor signaling pathway GO:0008543 9.52 KL FGF23
2 positive regulation of bone mineralization GO:0030501 9.51 PTH KL
3 calcium ion homeostasis GO:0055074 9.49 PTH KL
4 response to cadmium ion GO:0046686 9.48 SLC34A1 PTH
5 response to lead ion GO:0010288 9.46 SLC34A1 PTH
6 response to magnesium ion GO:0032026 9.43 SLC34A1 FGF23
7 phosphate ion transport GO:0006817 9.4 SLC34A3 SLC34A1
8 cellular response to parathyroid hormone stimulus GO:0071374 9.37 SLC34A1 FGF23
9 response to parathyroid hormone GO:0071107 9.32 SLC34A1 PTH
10 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.26 KL FGF23
11 sodium-dependent phosphate transport GO:0044341 9.16 SLC34A3 SLC34A1
12 cellular phosphate ion homeostasis GO:0030643 9.13 SLC34A3 SLC34A1 FGF23
13 phosphate ion homeostasis GO:0055062 8.8 SLC34A1 PTH FGF23

Molecular functions related to Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor binding GO:0005104 8.96 KL FGF23
2 sodium:phosphate symporter activity GO:0005436 8.62 SLC34A3 SLC34A1

Sources for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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