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	congenital nephrotic syndrome, finnish type

Disease ID	1995
Disease	congenital nephrotic syndrome, finnish type
Definition	Nephrotic syndrome attributed to mutation(s) in the NPHS1 gene, which encodes the protein nephrin, and most commonly presents during the first three months of life.(NICHD)
Synonym	cnf - finnish congenital nephrotic syndrome congenital finnish nephrosis congenital nephrotic syndrome - finnish type congenital nephrotic syndrome 1 finnish congenital nephrosis finnish congenital nephrotic syndrome finnish congenital nephrotic syndrome (disorder) nephrosis 1, congenital, finnish type nephrotic syndrome - nphs1 associated nephrotic syndrome, congenital nephrotic syndrome, type 1 nphs1
Orphanet	ORPHANET:839
OMIM	OMIM:256300 OMIM:602716
DOID	DOID:1184
UMLS	C0403399
SNOMED-CT	SNOMEDCT_US_2016_09_01:197601003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0033687 \| proteinuria \| 2 C0027726 \| nephrotic syndrome \| 2 C0268713 \| congenital nephrotic syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 4868 \| NPHS1 \| CLINVAR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:1) NPHS1 \| 19q13.12

Disease ID	1995
Disease	congenital nephrotic syndrome, finnish type
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:5) HP:0000100 \| Nephrotic syndrome HP:0004639 \| Elevated amniotic fluid alpha-fetoprotein HP:0000093 \| Proteinuria HP:0000696 \| Delayed eruption of permanent teeth HP:0000091 \| Abnormality of the renal tubule
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0000093 \| Proteinuria \| 2 HP:0000100 \| Nephrosis \| 2 HP:0012597 \| Heavy proteinuria \| 1 HP:0008677 \| Congenital nephrosis \| 1

Disease ID	1995
Disease	congenital nephrotic syndrome, finnish type
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:121)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs114203578	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35842480	C	G,T
rs137853042	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35831358	G	A
rs138656762	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35839418	C	A
rs139598219	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1;KIRREL2	19	35850407	C	A,T
rs142008044	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35848334	C	A,G,T
rs143092783	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35831116	G	A,T
rs150038620	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35842551	C	T
rs150855173	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35831092	G	A
rs191807913	20172850	4868	NPHS1	umls:C0403399	UNIPROT	Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).	0.441357209	2010	NPHS1	19	35844371	G	C,T
rs191807913	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35844371	G	C,T
rs200253809	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35844249	G	A,C,T
rs200905486	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35848707	C	A,T
rs267606917	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35849283	A	G
rs267606918	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35842421	C	T
rs267606919	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35831056	G	A
rs28939695	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35848142	C	T
rs386833861	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35848788	G	T
rs386833862	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35848767	C	T
rs386833863	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35848759	A	G
rs386833864	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35848711	T	G
rs386833865	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35848708	G	A
rs386833866	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35848705	G	A
rs386833867	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35848704	G	A
rs386833868	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35848681	G	C
rs386833869	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35848673	C	T,A
rs386833870	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35848671	CG	-
rs386833871	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35848672	G	A
rs386833872	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35848669	G	A
rs386833873	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1;KIRREL2	19	35851609	AG	-
rs386833874	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35848349	G	A
rs386833875	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35848318	C	A
rs386833876	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35848293	G	-
rs386833877	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35848275	-	T
rs386833878	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35848259	-	GT
rs386833879	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35848144	A	T
rs386833880	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35848102	C	T
rs386833881	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35848087	C	T
rs386833882	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1;KIRREL2	19	35851592	C	-
rs386833883	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35846154	G	-
rs386833884	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35846080	G	A
rs386833885	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35846052	C	A
rs386833886	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35845754	G	A
rs386833887	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35845725	G	T
rs386833888	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35845719	G	C
rs386833889	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35845711	C	T
rs386833890	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35845702	G	T
rs386833891	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35845520	GGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGT	-
rs386833892	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35845538	A	C
rs386833893	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35845497	C	G
rs386833894	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35845469	A	T
rs386833895	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35845430	C	A
rs386833896	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35845393	G	A
rs386833897	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1;KIRREL2	19	35851540	C	G
rs386833898	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35845370	A	G,C
rs386833899	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35844436	G	A
rs386833900	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35844347	C	A
rs386833901	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35844317	A	G
rs386833902	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35844189	A	C
rs386833903	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35844152	GCAGTGCA	-
rs386833904	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35844154	-	G
rs386833905	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35844144	G	C
rs386833906	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35844142	-	AG,CA
rs386833907	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35843590	G	A
rs386833908	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35843581	A	G
rs386833909	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35843579	G	A
rs386833910	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35843579	G	-
rs386833911	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35842481	G	T,A
rs386833912	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35842468	G	T
rs386833913	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35842443	G	C
rs386833914	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1;KIRREL2	19	35851482	-	T
rs386833915	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35842394	G	A
rs386833916	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35842390	A	G
rs386833917	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35842385	C	A
rs386833918	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35842272	G	-
rs386833919	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35842230	CAGCTGCAGC	-
rs386833920	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35842191	G	A
rs386833921	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35842179	-	GG
rs386833922	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35842167	TGA	GG
rs386833923	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35842162	C	T
rs386833924	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35841860	CGTGTACCTAG	-
rs386833925	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35841755	GGCGTTG	-
rs386833926	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35841747	G	T,A
rs386833927	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35841710	C	T
rs386833928	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35839601	GGGCGGCCTAT	-
rs386833929	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1;KIRREL2	19	35851373	G	C
rs386833930	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35839495	C	T
rs386833931	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35839401	-	T
rs386833932	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1;KIRREL2	19	35851346	C	T
rs386833933	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1;KIRREL2	19	35851340	C	T
rs386833934	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1;KIRREL2	19	35851339	G	A
rs386833935	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35831679	C	-
rs386833936	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35831678	-	C
rs386833937	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35831325	-	CC
rs386833938	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35831148	T	C
rs386833939	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35830956	C	A
rs386833940	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35826647	T	C
rs386833941	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NA	19	35826505	AGAGGGCTCTTACACC	-
rs386833942	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1;KIRREL2	19	35851090	C	T
rs386833943	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1;KIRREL2	19	35851019	G	C
rs386833944	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1;KIRREL2	19	35851008	C	G
rs386833945	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1;KIRREL2	19	35850987	G	A
rs386833946	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1;KIRREL2	19	35850975	A	T
rs386833947	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1;KIRREL2	19	35850970	TGG	-
rs386833948	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1;KIRREL2	19	35850971	G	-
rs386833949	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1;KIRREL2	19	35850969	A	T
rs386833950	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1;KIRREL2	19	35850956	C	G
rs386833951	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1;KIRREL2	19	35850440	G	A
rs386833952	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1;KIRREL2	19	35850438	C	-
rs386833953	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1;KIRREL2	19	35850398	G	A
rs386833955	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1;KIRREL2	19	35849655	T	G,C
rs386833956	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NA	19	35849641	CCGGGGTG	-,AA
rs386833957	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35849600	CT	-
rs386833958	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35849570	G	T
rs386833959	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35849340	C	T,A
rs386833960	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35849310	G	C,A
rs386833961	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35849268	C	A
rs386833962	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35849102	C	T
rs387906357	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35842429	T	A
rs730880174	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35845670	T	C
rs730880176	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35831147	C	T
rs786204729	NA	4868	NPHS1	umls:C0403399	CLINVAR	NA	0.441357209	NA	NPHS1	19	35831372	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000091	Abnormality of the renal tubule	MP:0011665	d-loop transposition of the great arteries	complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th
HP:0000696	Delayed eruption of permanent teeth	MP:0020010	decreased bone mineral density of femur	reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh

Mapped by homologous gene(Total Items:5)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0004639	Elevated amniotic fluid alpha-fetoprotein	MP:0013349	small Rathke's pouch	reduced size of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland
HP:0000100	Nephrotic syndrome	MP:0020216	decreased circulating complement protein level	less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0000093	Proteinuria	MP:0020216	decreased circulating complement protein level	less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0000091	Abnormality of the renal tubule	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0000696	Delayed eruption of permanent teeth	MP:0020010	decreased bone mineral density of femur	reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh

Disease ID	1995
Disease	congenital nephrotic syndrome, finnish type
Case	(Waiting for update.)