NPHS2 (NPHS2 stomatin family member, podocin)

Gene

• Entrez ID: 7827
• Gene name: NPHS2 stomatin family member, podocin
• Gene symbol: NPHS2
• Synonyms (NCBI Gene): PDCN, SRN1
• Chromosome: 1
• Chromosome location: 1q25.2
• Summary: This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs12406197	C>A	Pathogenic, likely-pathogenic, likely-benign	5 prime UTR variant
rs12568913	G>A,C,T	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, synonymous variant, missense variant
rs61747728	C>T	Uncertain-significance, pathogenic, likely-pathogenic, risk-factor	Missense variant, coding sequence variant, intron variant
rs74315342	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant, intron variant
rs74315343	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs74315344	G>A	Pathogenic, benign-likely-benign	Missense variant, coding sequence variant
rs74315345	C>A,G,T	Pathogenic	Missense variant, coding sequence variant
rs74315346	T>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs74315347	C>T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs78541594	G>C	Likely-benign, pathogenic	5 prime UTR variant
rs528833893	A>-,AA	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, frameshift variant
rs530318579	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs748812981	C>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, intron variant
rs755972674	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs762631237	C>A,T	Pathogenic	Intron variant, splice donor variant
rs778055996	G>A,C	Likely-pathogenic, pathogenic	Intron variant, stop gained, missense variant, coding sequence variant
rs786204583	G>A	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs786204708	A>T	Pathogenic, likely-pathogenic	Splice donor variant, intron variant
rs869025495	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant
rs869312746	G>A	Pathogenic	Coding sequence variant, stop gained
rs878853211	T>A	Drug-response	Intron variant
rs878853212	G>A	Drug-response	Intron variant
rs878853213	A>C	Drug-response	Intron variant
rs878853214	A>C	Drug-response	Intron variant
rs878853215	C>A,T	Drug-response	Missense variant, coding sequence variant
rs878853216	C>T	Drug-response	5 prime UTR variant
rs1057516395	G>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1057516414	G>A,T	Likely-pathogenic	Stop gained, intron variant, coding sequence variant, synonymous variant
rs1057516680	C>A,T	Likely-pathogenic	Initiator codon variant, missense variant
rs1057516747	->AGCCC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516880	->TA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1060499703	C>T	Pathogenic	Splice acceptor variant
rs1167223941	C>A,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs1212702104	A>G	Likely-pathogenic	Splice donor variant, intron variant
rs1272948499	C>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1291398331	C>A	Pathogenic	Intron variant, splice acceptor variant
rs1320543506	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1462028977	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553315173	T>C	Likely-pathogenic	Splice acceptor variant, intron variant
rs1553316575	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553316611	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553316648	T>CC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553316670	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1558355124	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1572277600	AA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1572282458	C>T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018421	hsa-miR-335-5p	Microarray	18185580
MIRT735673	hsa-miR-185-5p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	33977784
MIRT735673	hsa-miR-185-5p	Luciferase reporter assay, Western blotting, Microarray, Immunoprecipitaion (IP), Immunohistochemistry (IHC), qRT-PCR	33977784
MIRT1190901	hsa-miR-1294	CLIP-seq
MIRT1190902	hsa-miR-134	CLIP-seq
MIRT1190903	hsa-miR-183	CLIP-seq
MIRT1190904	hsa-miR-3118	CLIP-seq
MIRT1190905	hsa-miR-3127-5p	CLIP-seq
MIRT1190906	hsa-miR-3164	CLIP-seq
MIRT1190907	hsa-miR-3607-5p	CLIP-seq
MIRT1190908	hsa-miR-3915	CLIP-seq
MIRT1190909	hsa-miR-3928	CLIP-seq
MIRT1190910	hsa-miR-4269	CLIP-seq
MIRT1190911	hsa-miR-4316	CLIP-seq
MIRT1190912	hsa-miR-4501	CLIP-seq
MIRT1190913	hsa-miR-4514	CLIP-seq
MIRT1190914	hsa-miR-4692	CLIP-seq
MIRT1190915	hsa-miR-4742-5p	CLIP-seq
MIRT2055242	hsa-miR-129-5p	CLIP-seq
MIRT2055243	hsa-miR-33a	CLIP-seq
MIRT2055244	hsa-miR-33b	CLIP-seq
MIRT2055245	hsa-miR-450b-5p	CLIP-seq
MIRT2055246	hsa-miR-4639-3p	CLIP-seq
MIRT2055247	hsa-miR-507	CLIP-seq
MIRT2055248	hsa-miR-557	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
LMX1B	Unknown	11956244;11956245
USF1	Unknown	16572591

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003094	Process	Glomerular filtration	TAS	10742096
GO:0005515	Function	Protein binding	IPI	12424224, 17675666, 22662192
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10742096
GO:0005911	Component	Cell-cell junction	IDA	17675666
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	11786407
GO:0009898	Component	Cytoplasmic side of plasma membrane	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0030036	Process	Actin cytoskeleton organization	IDA	17675666
GO:0032991	Component	Protein-containing complex	IDA	17675666
GO:0036057	Component	Slit diaphragm	IDA	11786407
GO:0036057	Component	Slit diaphragm	IEA
GO:0045121	Component	Membrane raft	IDA	17675666
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0071944	Component	Cell periphery	IEA
GO:0072001	Process	Renal system development	IBA
GO:0072249	Process	Metanephric podocyte development	IEP	11786407

Other IDs

• MIM: 604766
• HGNC: 13394
• e!Ensembl: ENSG00000116218

Protein

• UniProt ID: Q9NP85
• Protein name: Podocin
• Protein function: Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01145	Band_7	126 → 300	SPFH domain / Band 7 family	Family

• Tissue specificity: TISSUE SPECIFICITY: Almost exclusively expressed in the podocytes of fetal and mature kidney glomeruli.
• Sequence:

  MERRARSSSRESRGRGGRTPHKENKRAKAERSGGGRGRQEAGPEPSGSGRAGTPGEPRAP
  AATVVDVDEVRGSGEEGTEVVALLESERPEEGTKSSGLGACEWLLVLISLLFIIMTFPFS
  IWFCVKVVQEYERVIIFRLGHLLPGRAKGPGLFFFLPCLDTYHKVDLRLQTLEIPFHEIV
  TKDMFIMEIDAICYYRMENASLLLSSLAHVSKAVQFLVQTTMKRLLAHRSLTEILLERKS
  IAQDAKVALDSVTCIWGIKVERIEIKDVRLPAGLQHSLAVEAEAQRQAKVRMIAAEAEKA
  ASESLRMAAEILSGTPAAVQLRYLHTLQSLSTEKPSTVVLPLPFDLLNCLSSPSNRTQGS
  LPFPSPSKPVEPLNPKKKDSPML

• Sequence length: 383

Pathways

Reactome:

Nephrin family interactions

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Chronic kidney disease	Likely pathogenic; Pathogenic	rs74315342	RCV001171338	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial idiopathic steroid-resistant nephrotic syndrome	Likely pathogenic; Pathogenic	rs1291398331	RCV000600077	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Finnish congenital nephrotic syndrome	Likely pathogenic; Pathogenic	rs530318579	RCV003407626	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal segmental glomerulosclerosis	Pathogenic; Likely pathogenic	rs74315343, rs748812981	RCV002293976 RCV002294366	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Idiopathic nephrotic syndrome	Likely pathogenic; Pathogenic	rs1673254835, rs762336297, rs74315343, rs763818901, rs199506378, rs1291398331, rs780761368, rs748812981	RCV003226521 RCV002271704 RCV002222343 RCV003226289 RCV002271493 RCV002282263 RCV002223136 RCV003117865	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrotic range proteinuria	Likely pathogenic; Pathogenic	rs74315342	RCV001003814	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic syndrome	Pathogenic; Likely pathogenic	rs2101887841, rs1481262338, rs2125780619, rs2125763683, rs2125765369, rs2125764106, rs530318579, rs74315342, rs199506378, rs749779208, rs1673255837, rs1673967760	RCV001849816 RCV001849818 RCV001849833 RCV001849837 RCV001849842 RCV001849845 RCV001328093 RCV001328321 RCV001328161 RCV001849477 RCV001328159 RCV001328160	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrotic syndrome, type 2	Likely pathogenic; Pathogenic	rs1673229720, rs2125780480, rs1277040907, rs2101887841, rs1481262338, rs1673254835, rs762336297, rs2125790095, rs1553312833, rs2125790074, rs2526288126, rs1421217117, rs1158299404, rs2526273002, rs2526376882, rs2526288141, rs2526297492, rs775170915, rs12568913, rs530318579, rs786204583, rs786204708, rs750373262, rs2526313561, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs2526380104, rs869025495, rs869312747, rs1558344689, rs2526378772, rs2526376498, rs2526377834, rs2526273309, rs1342452396, rs1292541006, rs1674125188, rs2526314427, rs2526376369, rs2526380602, rs2526152738, rs1168903863, rs2526380091, rs1291398331, rs2526288830, rs2526297786, rs2526288643, rs1389381980, rs2526191812, rs2526273422, rs2526379067, rs779765084, rs1173183268, rs1572262649, rs2526380257, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs1060499703, rs775006954, rs1320543506, rs1272948499, rs776016942, rs748812981, rs755972674, rs748203170, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs1558355124, rs1572255744, rs1572262824, rs1572255047, rs1572277600, rs1572282458, rs776016821, rs749779208, rs778201387, rs1673954981, rs1427261340, rs1673255837, rs1250670041	RCV002499788 RCV003469753 RCV004570963 RCV002250777 RCV002503346 RCV002479700 RCV002507648 RCV003989743 RCV003471038 RCV003464312 RCV002309956 RCV002309979 RCV002310013 RCV002309164 RCV002306986 RCV002310414 RCV002308435 RCV000169369 RCV000169250 RCV000169033 RCV000169326 RCV000169523 RCV003459756 RCV003465808 RCV000005691 RCV000005692 RCV000005697 RCV000005698 RCV000005699 RCV000005700 RCV003465848 RCV000786958 RCV000210051 RCV005636877 RCV003232046 RCV003340977 RCV003388713 RCV003471588 RCV003463202 RCV003471589 RCV003471590 RCV003471591 RCV003471592 RCV003471593 RCV003471594 RCV003471595 RCV003471596 RCV003463203 RCV003471597 RCV003471598 RCV003463204 RCV004574090 RCV005003698 RCV003988733 RCV004555476 RCV004574389 RCV004574390 RCV004574391 RCV004574392 RCV004574393 RCV004574394 RCV000411843 RCV000412425 RCV000409446 RCV000411647 RCV000411601 RCV000411024 RCV000409295 RCV000412170 RCV000411511 RCV000410922 RCV000409834 RCV000449520 RCV000761450 RCV000005693 RCV000585728 RCV000666052 RCV000668314 RCV000672577 RCV000670776 RCV000672374 RCV000671269 RCV000668232 RCV000664539 RCV000669020 RCV000671272 RCV000668562 RCV000673758 RCV000673930 RCV000666087 RCV000673449 RCV000781678 RCV000735716 RCV000735717 RCV000786978 RCV000786931 RCV000986466 RCV000995818 RCV000995819 RCV001174946 RCV001192595 RCV002497723 RCV002484155 RCV003346414 RCV001281253 RCV002471075 RCV001290641	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NPHS2-related disorder	Likely pathogenic; Pathogenic	rs267598208, rs74315342, rs2526314427, rs775006954, rs1291398331, rs749779208	RCV003408074 RCV003944802 RCV003901090 RCV004748800 RCV004730995 RCV003393872	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs267598208	RCV005925592	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proteinuria	Likely pathogenic; Pathogenic	rs869025495	RCV000208227	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Steroid-resistant nephrotic syndrome	Likely pathogenic; Pathogenic	rs1673229720, rs2125784348, rs775170915, rs530318579, rs74315342, rs74315343, rs74315347, rs74315348, rs2526273422, rs778055996, rs775006954, rs1291398331, rs748812981, rs967339926, rs776016821, rs749779208, rs1250670041	RCV001831376 RCV005607042 RCV001831989 RCV001273618 RCV001275640 RCV001275641 RCV001273616 RCV003993738 RCV005610688 RCV001828370 RCV001273612 RCV001273617 RCV001273614 RCV005614432 RCV001828589 RCV001833740 RCV001835346 RCV001835381	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHRONIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corticosteroids response	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY STEROID-RESISTANT NEPHROTIC SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME, IDIOPATHIC, STEROID-RESISTANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prednisolone response	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alport Syndrome, Autosomal Dominant	Alport Syndrome	GENOMICS_ENGLAND_DG	26138234		★☆☆☆☆ Found in Text Mining only
Alport Syndrome, Autosomal Recessive	Alport Syndrome	GENOMICS_ENGLAND_DG	26138234		★☆☆☆☆ Found in Text Mining only
Alport Syndrome, X-Linked	Alport Syndrome, X-Linked	GENOMICS_ENGLAND_DG	26138234		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	23829269		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11914252		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	11914252		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	21499232		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26831905	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	12617336, 14570703, 15503167, 15954915, 22228437, 23800802, 24089165, 24157943, 27193387, 27312921, 29049388		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	12617336, 12687458, 19520069, 25112471, 30387200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Kidney Insufficiency	Renal Insufficiency	BEFREE	12687458, 25112471		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	BEFREE	29097219		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15149332, 28105508, 28438648, 29948786		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15149332, 28105508, 28438648, 29948786		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	18823551	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	17968527		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	17264876, 21655212	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	22615747	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	17968527, 21655212, 25182410, 29238469, 30210570, 30387200, 30545560, 30839094, 31362740		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	17968527		★☆☆☆☆ Found in Text Mining only
Diffuse mesangial sclerosis (disorder)	Mesangial sclerosis	BEFREE	14701729, 15253708, 18462046, 20591883		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	27995418		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	32779421	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	30898510		★☆☆☆☆ Found in Text Mining only
Familial hematuria	Hematuria	BEFREE	22228437, 29138824		★☆☆☆☆ Found in Text Mining only
Finnish congenital nephrotic syndrome	Finnish Congenital Nephrotic Syndrome	BEFREE	11854170		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	11729243, 11805168, 11854170, 12464671, 12608558, 12617336, 12687458, 12704574, 12707396, 12776268, 12776285, 14633131, 14701729, 15015071, 15253708, 15264208, 15503167, 15627790, 15888021, 16286890, 16481888, 16721582, 16780544, 16874699, 17109732, 17530296, 17942957, 18208440, 18462046, 18823551, 19562271, 19674119, 20591883, 20947785, 21355056, 22732337, 23800802, 23982418, 24089165, 24500309, 24715228, 24856380, 25112471, 25903641, 26138234, 26308082, 26820844, 27312921, 28266622, 28629718, 30691124, 31188898		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	LHGDN	12464671		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	CTD_human_DG	15942677		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal Segmental Glomerulosclerosis, Not Otherwise Specified	Focal segmental glomerulosclerosis	BEFREE	12617336, 18208440, 19674119, 21355056, 27312921, 31188898		★☆☆☆☆ Found in Text Mining only
Genetic steroid-resistant nephrotic syndrome	Genetic Steroid-Resistant Nephrotic Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis	Glomerulonephritis	BEFREE	31454880		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	14633131, 22578956, 23982418	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis, Minimal Change	Glomerulonephritis	BEFREE	19562271		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	18499321, 19406966, 28479222, 30359671, 30993911		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	12464671, 14633131, 15015071, 15253708, 17109732, 17942957, 18499321, 18823551, 20947785, 21355056, 23982418, 24089165, 24856380, 25112471, 28629718, 29138824, 30691124, 31188898, 31754646, 32779421, 33305316, 34906202, 35920919, 39914654	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	28629718	Inhibit	★☆☆☆☆ Found in Text Mining only
Hematuria, Benign Familial	Hematuria	GENOMICS_ENGLAND_DG	26138234		★☆☆☆☆ Found in Text Mining only
Hyalinosis, Segmental Glomerular	Glomerular Hyalinosis	CTD_human_DG	15942677		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30587856		★☆☆☆☆ Found in Text Mining only
hypertensive nephropathy	Hypertensive Nephropathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis linearis circumflexa	Netherton syndrome	BEFREE	17211152, 22565185		★☆☆☆☆ Found in Text Mining only
Idiopathic Nephrotic Syndrome	Nephrotic Syndrome	UNIPROT_DG	10742096, 12464671, 15253708, 17899208, 20798252, 20947785, 22565185, 22578956, 23242530, 23800802, 23913389, 24072147, 24227627, 26420286		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Idiopathic Nephrotic Syndrome	Nephrotic Syndrome	CLINVAR_DG	10742096, 11729243, 11733557, 11805166, 11805168, 11854170, 12464671, 12649741, 12707396, 14675423, 14978175, 15015071, 15253708, 15322893, 15327385, 15496146, 15769810, 15780077, 15817495, 16721582, 16810518, 17899208, 18216321, 18443213, 18596732, 18823551, 19067903, 19145239, 19371226, 19406966, 19674119, 20001346, 20507940, 20798252, 20947785, 21171529, 21355056, 21415313, 21636722, 22565185, 22578956, 23013956, 23242530, 23515051, 23595123, 23645318, 24072147, 24227627, 24500309, 24509478, 24742477, 24856380, 25349199, 25525159, 25599733, 25852895, 26138234, 26413278, 26668027, 28117080, 28204945, 29382718		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Idiopathic Nephrotic Syndrome	Nephrotic Syndrome	GENOMICS_ENGLAND_DG	10742096, 26138234		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Idiopathic Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	12089392, 12217315, 17899208, 19406966, 22578956, 24509478, 26820844, 8589695		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	14633131, 16900088, 17635752, 18685143, 20025681, 22578956, 28266622		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	12500226, 14701729, 15149332, 16900088, 18499321, 19520069, 19562271, 20382325, 22056625, 22120861, 23982418, 24072153, 24596097, 25967120, 26420286, 28266622, 30545560, 31454880, 31638199, 31773705		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	14633131, 15149332, 16572591, 18499321, 22119407, 23982418, 24157943, 25112471, 26420286, 30691124, 32585588, 33305316	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure	Kidney Failure	BEFREE	16900088, 22228437, 26138234, 30691124		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	15954915, 16050398, 16572591, 19145239, 20947785, 24089165, 24157943, 27193387	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	18509321		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	12617336, 14570703, 15503167, 15954915, 22228437, 23800802, 24089165, 24157943, 27193387, 27312921, 29049388		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	LHGDN	14570703, 15954915		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	31754646, 37510393	Associate	★☆☆☆☆ Found in Text Mining only
Lipoid nephrosis	Lipoid Nephrosis	BEFREE	12704574, 14633131, 19562271, 20025681, 26308082		★☆☆☆☆ Found in Text Mining only
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	14633131, 26820844, 31188898		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	19562271		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	31362740		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	11914252		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	14633131		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	LHGDN	17393177		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	12819328, 18543005, 29663071, 30054312		★☆☆☆☆ Found in Text Mining only
Nephrosclerosis	Nephrosclerosis	BEFREE	14569107		★☆☆☆☆ Found in Text Mining only
Nephrosis	Nephrosis	CTD_human_DG	15684566		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrosis	Nephrosis	BEFREE	18499321, 18823551, 8589695		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrosis	Nephrotic syndrome	Pubtator	18823551	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrosis congenital	Nephrotic syndrome	Pubtator	12368218, 15338398, 15780077, 16050398, 18614772, 19406966, 22578956, 24509478, 25635037, 25729976, 26668027, 30514835	Associate	★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	14633131	Associate	★☆☆☆☆ Found in Text Mining only
Nephrosis, congenital	Nephrosis, Congenital	BEFREE	12644922, 15021196, 15503167, 15780077, 16354237, 17371932, 18614772, 20507940, 25720465, 25729976, 26668027, 29663071		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	11729243, 11854170, 12500226, 12629268, 12707396, 14643126, 14871423, 14978175, 15042551, 15503167, 15817495, 15954915, 16186681, 16481888, 16909243, 17109732, 17211152, 17371932, 18499321, 18683072, 18823551, 19282856, 19406966, 19495806, 19562271, 22120861, 22565185, 23242530, 23515051, 23595123, 23645318, 23657570, 23778422, 23913389, 24072153, 24089165, 24674236, 24856380, 25599733, 26420286, 27193387, 27573339, 28712774, 29049388, 30013592, 30241959, 31368174, 8589695		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrotic Syndrome	Nephrotic Syndrome	LHGDN	11729243, 11805166, 11854170, 11908478, 12089392, 12961083, 15322893, 15496146, 15780077, 15817495, 16968734, 17211152, 17216259, 17218332, 17899208, 17934764, 18000687, 18216321, 18334793, 18543005		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	11786407, 14633131, 14871423, 15015071, 15253708, 15327385, 15338398, 15496146, 15954915, 16050398, 16572591, 17109732, 18216321, 18499321, 18543005, 18614772, 19145239, 19406966, 20798252, 20947785, 21415313, 22080622, 22578956, 23349334, 23515051, 23645318, 23648087, 23982418, 24089165, 24413855, 24509478, 24856380, 25112471, 25501161, 26420286, 26668027, 27193387, 28117080, 28204945, 28385484, 28921387, 29127259, 29382718, 31209189, 31754646, 32482922, 32585588, 32779421, 35801912, 35920919, 37014572, 37204080, 37670083, 40225918, 40543848	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrotic Syndrome	Nephrotic Syndrome	CTD_human_DG	16898497		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrotic Syndrome, Minimal Change	Nephrotic Syndrome	BEFREE	17899208, 19406966, 22578956, 26820844, 8589695		★☆☆☆☆ Found in Text Mining only
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	CLINVAR_DG	10742096, 11729243, 11733557, 11805166, 11805168, 11854170, 12464671, 12649741, 12707396, 14675423, 14978175, 15015071, 15253708, 15322893, 15327385, 15496146, 15769810, 15780077, 15817495, 16721582, 16810518, 17899208, 18216321, 18443213, 18596732, 18823551, 19067903, 19145239, 19371226, 19406966, 19674119, 20001346, 20507940, 20798252, 20947785, 21171529, 21355056, 21636722, 22565185, 22578956, 23013956, 23242530, 23515051, 23595123, 23645318, 24072147, 24227627, 24500309, 24509478, 24856380, 25349199, 25525159, 25599733, 25852895, 26138234, 26413278, 26668027, 28117080, 28204945, 29382718		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	ORPHANET_DG	11805166		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	BEFREE	11854170		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	CTD_human_DG	21171529, 24509478		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nuclear non-senile cataract	Cataract	BEFREE	17211152, 22565185		★☆☆☆☆ Found in Text Mining only
Pierson syndrome	Pierson Syndrome	BEFREE	18462046		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	31117091		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	11562357, 15496146, 15954915, 16572591, 23982418, 25112471, 28621045, 32779421, 36847718	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal fibrosis	Renal fibrosis	BEFREE	30993911, 31773705		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	14633131, 16900088, 20457601, 23982418		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	31074472		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	22578956	Associate	★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	10742096, 11729243, 11805166, 11805168, 12089392, 12217315, 12608558, 12687458, 12776268, 14633131, 14675423, 14701729, 14730545, 15015071, 15042551, 15253708, 15264208, 15322893, 15327385, 15496146, 15503167, 15504144, 15769810, 16291839, 16481888, 16810518, 16874699, 17216259, 17934764, 18000687, 18216321, 18334793, 18499321, 18543005, 18614772, 19145239, 19282856, 19371226, 19395786, 19495806, 20001346, 20442690, 20947785, 21499232, 22080622, 22565185, 23242530, 23515051, 23800802, 23913389, 23982418, 24072147, 24072153, 24227627, 24509478, 24519673, 24596097, 24674236, 24715228, 24856380, 25112471, 25349199, 25501161, 26668027, 26820844, 27573339, 27885584, 28204945, 28385484, 29382718, 30241959, 30260545, 31529341		★☆☆☆☆ Found in Text Mining only
Steroid-sensitive nephrotic syndrome	Steroid-Sensitive Nephrotic Syndrome	BEFREE	24072147, 24519673		★☆☆☆☆ Found in Text Mining only
Thin basement membrane disease	Thin Basement Membrane Disease	BEFREE	18726620, 22228437		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	15769810		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	37904849	Associate	★☆☆☆☆ Found in Text Mining only