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	renal tubular acidosis

Disease ID	626
Disease	renal tubular acidosis
Definition	A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS.
Synonym	acidosis renal tubular acidosis renal tubules acidosis tubular renal acidosis, renal hyperchloremic acidosis, renal tubular acidosis, renal tubular [disease/finding] acidosis, renal, tubular renal acidosis tubular renal tubular acidosis (disorder) renal tubular acidosis, nos renal tubule acidosis rta rta - renal tubular acidosis rta, nos tubular renal acidosis
OMIM	OMIM:612149
DOID	DOID:14219
UMLS	C0001126
MeSH	D000141
SNOMED-CT	SNOMEDCT_US_2016_09_01:1776003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:39) C1527336 \| sjogren's syndrome \| 8 C0030443 \| periodic paralysis \| 3 C0027709 \| nephrocalcinosis \| 3 C0029442 \| osteomalacia \| 2 C0238358 \| hypokalemic periodic paralysis \| 2 C0029454 \| osteopetrosis \| 2 C0011334 \| caries \| 2 C1527336 \| sjogren syndrome \| 1 C0017668 \| focal segmental glomerulosclerosis \| 1 C0221002 \| primary hyperparathyroidism \| 1 C0235618 \| proliferative glomerulonephritis \| 1 C0042870 \| vitamin d deficiency \| 1 C0040156 \| thyrotoxicosis \| 1 C0022735 \| klinefelter's syndrome \| 1 C0392525 \| nephrolithiasis \| 1 C0023364 \| leptospirosis \| 1 C0020437 \| hypercalcemia \| 1 C0017662 \| membranoproliferative glomerulonephritis \| 1 C0011334 \| dental caries \| 1 C0005940 \| bone disease \| 1 C0018784 \| sensorineural deafness \| 1 C0035579 \| rickets \| 1 C0033806 \| pseudohypoparathyroidism \| 1 C0018784 \| sensorineural hearing loss \| 1 C0011847 \| diabetes \| 1 C0024143 \| lupus nephritis \| 1 C0017980 \| renal diabetes \| 1 C0409974 \| lupus erythematosus \| 1 C0037889 \| hereditary spherocytosis \| 1 C1704375 \| hypophosphatemic rickets \| 1 C0155550 \| neural deafness \| 1 C0022681 \| sponge kidney \| 1 C0002871 \| anemia \| 1 C0011848 \| diabetes insipidus \| 1 C0155550 \| nerve deafness \| 1 C0027726 \| nephrotic syndrome \| 1 C0022681 \| medullary sponge kidney \| 1 C0042870 \| vitamin d defic \| 1 C0024141 \| systemic lupus erythematosus \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 6521 \| SLC4A1 \| UNIPROT 8671 \| SLC4A4 \| CTD_human 116535 \| MRGPRF \| OMIM 50617 \| ATP6V0A4 \| UNIPROT 525 \| ATP6V1B1 \| UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:61) 55811 \| ADCY10 \| 4.531 \| DISEASES 229 \| ALDOB \| 3.761 \| DISEASES 265 \| AMELX \| 1.034 \| DISEASES 353 \| APRT \| 1.493 \| DISEASES 551 \| AVP \| 1.938 \| DISEASES 567 \| B2M \| 2.383 \| DISEASES 7809 \| BSND \| 1.619 \| DISEASES 10950 \| BTG3 \| 1.886 \| DISEASES 23632 \| CA14 \| 1.989 \| DISEASES 765 \| CA6 \| 1.168 \| DISEASES 766 \| CA7 \| 1.141 \| DISEASES 779 \| CACNA1S \| 2.381 \| DISEASES 846 \| CASR \| 1.551 \| DISEASES 1041 \| CDSN \| 3.561 \| DISEASES 1184 \| CLCN5 \| 3.209 \| DISEASES 1186 \| CLCN7 \| 1.478 \| DISEASES 1187 \| CLCNKA \| 2.323 \| DISEASES 1188 \| CLCNKB \| 1.368 \| DISEASES 1497 \| CTNS \| 2.143 \| DISEASES 8029 \| CUBN \| 2.123 \| DISEASES 6993 \| DYNLT1 \| 1.371 \| DISEASES 2118 \| ETV4 \| 1.001 \| DISEASES 2203 \| FBP1 \| 1.951 \| DISEASES 8789 \| FBP2 \| 2.483 \| DISEASES 2592 \| GALT \| 1.357 \| DISEASES 2993 \| GYPA \| 1.916 \| DISEASES 3339 \| HSPG2 \| 2.252 \| DISEASES 3766 \| KCNJ10 \| 1.106 \| DISEASES 8645 \| KCNK5 \| 3.068 \| DISEASES 8972 \| MGAM \| 2.319 \| DISEASES 10724 \| MGEA5 \| 1.567 \| DISEASES 326625 \| MMAB \| 1.992 \| DISEASES 25974 \| MMACHC \| 1.572 \| DISEASES 4514 \| MT-CO3 \| 3.761 \| DISEASES 246734 \| NPCDR1 \| 1.035 \| DISEASES 4306 \| NR3C2 \| 1.8 \| DISEASES 4952 \| OCRL \| 3.126 \| DISEASES 5091 \| PC \| 3.152 \| DISEASES 27445 \| PCLO \| 1.488 \| DISEASES 5256 \| PHKA2 \| 1.754 \| DISEASES 5333 \| PLCD1 \| 2.121 \| DISEASES 5905 \| RANGAP1 \| 2.222 \| DISEASES 1104 \| RCC1 \| 1.647 \| DISEASES 57127 \| RHBG \| 2.707 \| DISEASES 9990 \| SLC12A6 \| 2.827 \| DISEASES 65010 \| SLC26A6 \| 1.864 \| DISEASES 6514 \| SLC2A2 \| 2.58 \| DISEASES 6569 \| SLC34A1 \| 2.74 \| DISEASES 142680 \| SLC34A3 \| 2.541 \| DISEASES 57282 \| SLC4A10 \| 2.579 \| DISEASES 83959 \| SLC4A11 \| 2.663 \| DISEASES 8671 \| SLC4A4 \| 6.596 \| DISEASES 57835 \| SLC4A5 \| 2.582 \| DISEASES 9498 \| SLC4A8 \| 2.302 \| DISEASES 83697 \| SLC4A9 \| 2.887 \| DISEASES 6524 \| SLC5A2 \| 3.201 \| DISEASES 23315 \| SLC9A8 \| 2.6 \| DISEASES 7421 \| VDR \| 1.503 \| DISEASES 63894 \| VIPAS39 \| 2.507 \| DISEASES 26276 \| VPS33B \| 2.038 \| DISEASES 7481 \| WNT11 \| 1.565 \| DISEASES
Locus	(Waiting for update.)

Disease ID	626
Disease	renal tubular acidosis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:43) HP:0001941 \| acidemia \| 6 HP:0001942 \| Metabolic acidosis \| 6 HP:0002900 \| Hypokalemia \| 6 HP:0003470 \| Inability to move \| 5 HP:0000121 \| Nephrocalcinosis \| 3 HP:0003768 \| Periodic paralysis \| 3 HP:0011002 \| Osteopetrosis \| 3 HP:0000670 \| Dental caries \| 2 HP:0002749 \| Osteomalacia \| 2 HP:0002148 \| Hypophosphataemia \| 2 HP:0000407 \| sensorineural hearing loss \| 2 HP:0003072 \| Hypercalcemia \| 1 HP:0000873 \| Diabetes insipidus \| 1 HP:0004724 \| Calcium nephrolithiasis \| 1 HP:0002857 \| Genu valgum \| 1 HP:0001903 \| Anemia \| 1 HP:0002203 \| Respiratory paralysis \| 1 HP:0003159 \| Hyperoxaluria \| 1 HP:0004319 \| Mineralocorticoid insufficiency \| 1 HP:0000365 \| Hearing impairment \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0004322 \| Stature below 3rd percentile \| 1 HP:0008200 \| Primary hyperparathyroidism \| 1 HP:0000793 \| Membranoproliferative glomerulonephritis \| 1 HP:0001996 \| Chronic metabolic acidosis \| 1 HP:0010972 \| Anemia of inadequate production \| 1 HP:0000100 \| Nephrosis \| 1 HP:0012405 \| Hypocitraturia \| 1 HP:0002748 \| Rickets \| 1 HP:0012408 \| Medullary nephrocalcinosis \| 1 HP:0000787 \| Renal calculi \| 1 HP:0000852 \| Pseudohypoparathyroidism \| 1 HP:0001995 \| Hyperchloremic acidosis \| 1 HP:0003127 \| Low urine calcium levels \| 1 HP:0005976 \| Hyperkalemic metabolic acidosis \| 1 HP:0000097 \| focal glomerulosclerosis \| 1 HP:0001901 \| Abnormally shaped erythrocytes \| 1 HP:0004912 \| Hypophosphatemic rickets \| 1 HP:0002150 \| Hypercalcinuria \| 1 HP:0001987 \| Hyperammonemia \| 1 HP:0003355 \| Aminoaciduria \| 1 HP:0100512 \| Vitamin D deficiency \| 1 HP:0001510 \| Growth deficiency \| 1

Disease ID	626
Disease	renal tubular acidosis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:25) C1839611 \| n syndrome C1332124 \| nephrogenic diabetes insipidus C0920350 \| hashimoto's thyroiditis C0520463 \| chronic active hepatitis C0520463 \| active chronic hepatitis C0451641 \| urolithiasis C0400936 \| autoimmune liver disease C0392525 \| renal lithiasis C0392525 \| nephrolithiasis C0238358 \| hypokalaemic periodic paralysis C0235394 \| wasting C0085786 \| fibrosing alveolitis C0040156 \| thyrotoxicosis C0035579 \| rickets C0030517 \| parathyroid diseases C0029713 \| immaturity C0029464 \| osteosclerosis C0029454 \| osteopetrosis C0029442 \| osteomalacia C0027709 \| nephrocalcinosis C0026848 \| myopathy C0024141 \| le syndrome C0020550 \| hyperthyroidism C0005940 \| bone disease C0004775 \| bartter's syndrome
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:9) C0029454 \| osteopetrosis \| 3 C0027709 \| nephrocalcinosis \| 3 C0029442 \| osteomalacia \| 2 C1839611 \| n syndrome \| 2 C0040156 \| thyrotoxicosis \| 1 C0392525 \| nephrolithiasis \| 1 C0005940 \| bone disease \| 1 C0235394 \| wasting \| 1 C0035579 \| rickets \| 1

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

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

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121912748	20068363	6521	SLC4A1	umls:C0001126	BeFree	Recessive renal tubular acidosis in Filipinos is usually caused by SLC4A1 mutations, commonly G701D.	0.142337686	2010	SLC4A1	17	44253327	C	T

GWASdb Annotation(Total Genotypes:2)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
11	68777323	rs11544721	NM_001098515,MRGPRF	NM_145015,MRGPRF	ENST00000309099,ENSG00000172935	ENST00000441623,ENSG00000172935	ENST00000320913,ENSG00000172935	ENST00000421543,ENSG00000172935	NA	NA	chr11,68770001,68780000,chr11,68750001,68760000,25,Hi-C	chr11,68770001,68780000,chr11,68800001,68810000,31,Hi-C	chr11,68770001,68780000,chr16,29100001,29110000,36,Hi-C	chr11,68770001,68780000,chr11,71780001,71790000,48,Hi-C	chr11,68770001,68780000,chr2,95350001,95360000,127,Hi-C	chr11,68770001,68780000,chr11,91300001,91310000,4,Hi-C	chr11,68770001,68780000,chr13,51590001,51600000,4,Hi-C	chr11,68770001,68780000,chr12,110470001,110480000,5,Hi-C	chr11,68770001,68780000,chr18,47070001,47080000,6,Hi-C	chr11,68770001,68780000,chr11,85380001,85390000,6,Hi-C	chr11,68770001,68780000,chr6,51020001,51030000,8,Hi-C	NA	Bapx1_2343,1.5597	Barx1_2877,2.5768	Cup9-primary,1.4467	Dlx2_2273,2.1411	Dlx3_1030,1.2889	NA	NA	NA	MRGPRF,T,G,K,T,0.168,1,0.99945,0.01931	MRGPRF,T,C,K,R,0.161,1,0.99945,0.00664	MRGPRF,T,A,K,M,0.529,1,0.99945,0.118927	NA	NA	0.999	1.879
11	68779633	rs2513102	NM_001098515,MRGPRF	NM_145015,MRGPRF	ENST00000309099,ENSG00000172935	ENST00000441623,ENSG00000172935	ENST00000320913,ENSG00000172935	ENST00000421543,ENSG00000172935	TFP.MYC	TFP.MAX	NA	chr11,68770001,68780000,chr11,68750001,68760000,25,Hi-C	chr11,68770001,68780000,chr11,68800001,68810000,31,Hi-C	chr11,68770001,68780000,chr16,29100001,29110000,36,Hi-C	chr11,68770001,68780000,chr11,71780001,71790000,48,Hi-C	chr11,68770001,68780000,chr2,95350001,95360000,127,Hi-C	chr11,68770001,68780000,chr11,91300001,91310000,4,Hi-C	chr11,68770001,68780000,chr13,51590001,51600000,4,Hi-C	chr11,68770001,68780000,chr12,110470001,110480000,5,Hi-C	chr11,68770001,68780000,chr18,47070001,47080000,6,Hi-C	chr11,68770001,68780000,chr11,85380001,85390000,6,Hi-C	chr11,68770001,68780000,chr6,51020001,51030000,8,Hi-C	NA	Duxl_1286,2.2272	Fhl1-DBD-primary,1.3453	Ndt80-primary,1.3952	Usv1-primary,1.2614	LM1,1.5146	NA	NA	NA	NA	NA	NA	0.000	-2.161	-6.38

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

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	626
Disease	renal tubular acidosis
Case	(Waiting for update.)

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