ALB (albumin)

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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 213
• Gene name: Albumin
• Gene symbol: ALB
• Synonyms (NCBI Gene): FDAHT, HSA, PRO0883, PRO0903, PRO1341
• Chromosome: 4
• Chromosome location: 4q13.3
• Summary: This gene encodes the most abundant protein in human blood. This protein functions in the regulation of blood plasma colloid osmotic pressure and acts as a carrier protein for a wide range of endogenous molecules including hormones, fatty acids, and metab

SNPs Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs74821926	G>A,C,T	Pathogenic, other	Missense variant, coding sequence variant
rs75002628	G>A,C	Affects, uncertain-significance	Missense variant, coding sequence variant
rs75152012	AT>-	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs75353611	A>T	Pathogenic	Missense variant, coding sequence variant
rs77238412	C>G,T	Pathogenic, other	Stop gained, missense variant, coding sequence variant
rs77335374	A>G,T	Pathogenic	Splice acceptor variant
rs77408163	G>A	Pathogenic	Splice donor variant
rs77449454	->A	Pathogenic	Frameshift variant, coding sequence variant
rs77892378	T>C,G	Affects	Missense variant, coding sequence variant
rs79228041	G>A	Pathogenic	Missense variant, coding sequence variant
rs80345158	A>G	Pathogenic	Missense variant, coding sequence variant
rs1577939845	->T	Pathogenic	Frameshift variant, coding sequence variant

miRNA Show/Hide all (6)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006073	hsa-miR-492	Microarray, qRT-PCR	21319197
MIRT006073	hsa-miR-492	Microarray, qRT-PCR	21319197
MIRT006073	hsa-miR-492	Microarray, qRT-PCR	21319197
MIRT776865	hsa-miR-4753-3p	CLIP-seq
MIRT776866	hsa-miR-4768-5p	CLIP-seq
MIRT776867	hsa-miR-579	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CEBPA	Unknown	10542249
CEBPB	Unknown	10542249
HNF1A	Unknown	1321810
TEF	Activation	8617210

Gene ontology (GO) Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IDA	16405401
GO:0005504	Function	Fatty acid binding	IDA	16289007, 16413837
GO:0005504	Function	Fatty acid binding	NAS	9731778
GO:0005507	Function	Copper ion binding	NAS	14726550
GO:0005515	Function	Protein binding	IPI	9183005, 16099937, 23384347, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	22664934, 23580065
GO:0005615	Component	Extracellular space	IDA	19996109, 21805676
GO:0005615	Component	Extracellular space	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005794	Component	Golgi apparatus	IDA
GO:0008289	Function	Lipid binding	IEA
GO:0009267	Process	Cellular response to starvation	IDA	16245148
GO:0015643	Function	Toxic substance binding	IDA	16169013
GO:0016209	Function	Antioxidant activity	NAS	14726550
GO:0019825	Function	Oxygen binding	IDA	16283771
GO:0030170	Function	Pyridoxal phosphate binding	IDA	16201370
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0031667	Process	Response to nutrient levels	IBA
GO:0032991	Component	Protein-containing complex	IDA	16283771
GO:0042802	Function	Identical protein binding	IPI	15174051, 26554815
GO:0046872	Function	Metal ion binding	IEA
GO:0051087	Function	Protein-folding chaperone binding	IPI	19996109
GO:0051902	Process	Negative regulation of mitochondrial depolarization	IDA	16153637
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 21362503, 23533145
GO:0070062	Component	Extracellular exosome	IDA	21276792
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0072732	Process	Cellular response to calcium ion starvation	IDA	16153637
GO:0098869	Process	Cellular oxidant detoxification	IEA
GO:0140272	Function	Exogenous protein binding	IDA	16394536
GO:1903981	Function	Enterobactin binding	IBA
GO:1903981	Function	Enterobactin binding	IDA	6234017

Other IDs

• MIM: 103600
• HGNC: 399
• e!Ensembl: ENSG00000163631

Protein

• UniProt ID: P02768
• Protein name: Albumin
• Protein function: Binds water, Ca(2+), Na(+), K(+), fatty acids, hormones, bilirubin and drugs (Probable). Its main function is the regulation of the colloidal osmotic pressure of blood (Probable). Major zinc transporter in plasma, typically binds about 80% of al
• PDB: 1AO6 , 1BJ5 , 1BKE , 1BM0 , 1E78 , 1E7A , 1E7B , 1E7C , 1E7E , 1E7F , 1E7G , 1E7H , 1E7I , 1GNI , 1GNJ , 1H9Z , 1HA2 , 1HK1 , 1HK2 , 1HK3 , 1HK4 , 1HK5 , 1N5U , 1O9X , 1TF0 , 1UOR , 1YSX , 2BX8 , 2BXA , 2BXB , 2BXC , 2BXD , 2BXE , 2BXF , 2BXG , 2BXH , 2BXI , 2BXK , 2BXL , 2BXM , 2BXN , 2BXO , 2BXP , 2BXQ , 2ESG , 2I2Z , 2I30 , 2N0X , 2VDB , 2VUE , 2VUF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00273	Serum_albumin	222 → 394	Serum albumin family	Domain
  PF00273	Serum_albumin	30 → 202	Serum albumin family	Domain
  PF00273	Serum_albumin	414 → 592	Serum albumin family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Plasma.
• Sequence:

  MKWVTFISLLFLFSSAYSRGVFRRDAHKSEVAHRFKDLGEENFKALVLIAFAQYLQQCPF
  EDHVKLVNEVTEFAKTCVADESAENCDKSLHTLFGDKLCTVATLRETYGEMADCCAKQEP
  ERNECFLQHKDDNPNLPRLVRPEVDVMCTAFHDNEETFLKKYLYEIARRHPYFYAPELLF
  FAKRYKAAFTECCQAADKAACLLPKLDELRDEGKASSAKQRLKCASLQKFGERAFKAWAV
  ARLSQRFPKAEFAEVSKLVTDLTKVHTECCHGDLLECADDRADLAKYICENQDSISSKLK
  ECCEKPLLEKSHCIAEVENDEMPADLPSLAADFVESKDVCKNYAEAKDVFLGMFLYEYAR
  RHPDYSVVLLLRLAKTYETTLEKCCAAADPHECYAKVFDEFKPLVEEPQNLIKQNCELFE
  QLGEYKFQNALLVRYTKKVPQVSTPTLVEVSRNLGKVGSKCCKHPEAKRMPCAEDYLSVV
  LNQLCVLHEKTPVSDRVTKCCTESLVNRRPCFSALEVDETYVPKEFNAETFTFHADICTL
  SEKERQIKKQTALVELVKHKPKATKEQLKAVMDDFAAFVEKCCKADDKETCFAEEGKKLV
  AASQAALGL

• Sequence length: 609

Pathways

KEGG Pathway	Reactome Pathway
Thyroid hormone synthesis	Platelet degranulation
	Recycling of bile acids and salts
	Heme biosynthesis
	Heme degradation
	Scavenging of heme from plasma
	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
	Transport of organic anions
	Post-translational protein phosphorylation
	HDL remodeling

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
ALBUMIN B	Pathogenic	rs79228041	RCV000019862	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alloalbuminemia	Pathogenic	rs74821926, rs75353611	RCV001796717 RCV001796718	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Analbuminemia	Pathogenic; Likely pathogenic	rs75470261, rs75152012, rs77238412, rs76454301, rs768570250, rs77335374, rs77449454, rs1577939845	RCV000144398 RCV000144403 RCV000144404 RCV000144407 RCV003148494 RCV000019869 RCV000019885 RCV000787975	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Analbuminemia Baghdad	Pathogenic	rs77408163	RCV000019901	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperthyroxinemia, familial dysalbuminemic	Pathogenic	rs75002628, rs77892378	RCV000019899 RCV000019900	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (106)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ALB-related disorder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN ASOLA	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN BAZZANO	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN CASEBROOK	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN CASERTA	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN CASTEL DI SANGRO	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN COARI I	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN DUBLIN	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN FUKUOKA 1	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN HAWKES BAY	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN HERBORN	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN HIROSHIMA 1	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN HIROSHIMA 2	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN IOWA CITY 1	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN KOMAGOME 2	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN LARINO	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN MALMO-10	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN MALMO-47	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN MALMO-5	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN MALMO-95	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN MEXICO 2	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN NAGASAKI 2	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN NAGASAKI 3	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN NAGOYA	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN NASKAPI	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN ORTONOVO	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN OSAKA 1	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN PARKLANDS	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN ROMA	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN RUGBY PARK	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN SONDRIA	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN TAGLIACOZZO	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN TOCHIGI	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN TORINO	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN TRADATE 2	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN VANCOUVER	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN VANVES	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN VENEZIA	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN VIBO VALENTIA	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALBUMIN YANOMAMA 2	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGIOEDEMA	—	CTD	8458210	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANURIA	—	CTD, Disgenet CTD, Disgenet	6734075	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AZOOSPERMIA	—	CTD, Disgenet CTD, Disgenet	27289041	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY CIRRHOSIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD PROTEIN DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES	—	CTD, Disgenet CTD, Disgenet	15923801	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN INJURIES	—	CTD	17188501, 7909931	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	16809570	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	8431628	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS, EXTRAHEPATIC	—	CTD, Disgenet CTD, Disgenet	30026087	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LEFT-SIDED ULCERATIVE COLITIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS, ULCERATIVE	—	CTD	35999755	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANALBUMINEMIA	—	ClinGen, GenCC, Orphanet ClinGen, GenCC, Orphanet	15996651, 7937781, ClinGen report	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	CTD	9029664	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC ANGIOPATHIES	—	CTD, Disgenet CTD, Disgenet	19733855	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHIES	—	CTD	16380483	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC PERIPHERAL ANGIOPATHY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSALBUMINEMIC HYPERTHYROXINEMIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome, arthrochalasia type	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	15356194, 17121744	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	CTD, Disgenet CTD, Disgenet	17161813, 17464766, 18462998, 19524415, 3160244, 6343549, 6769622, 8501856	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	CTD, Disgenet CTD, Disgenet	24309158	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	11771600	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOLYTIC-UREMIC SYNDROME	—	CTD, Disgenet CTD, Disgenet	6734075	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATIC INSUFFICIENCY	—	CTD	30026087	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOMEGALY	—	CTD	30026087	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERSENSITIVITY	—	CTD	8431628	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERSENSITIVITY, DELAYED	—	CTD	19376187	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	2526952	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTHYROXINEMIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroxinemia, dysalbuminemic	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTENSION	—	CTD	11229087, 4463119	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	16316336, 17303580, 20438795, 21338618, 2386429, 24863737, 350256, 7297036	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	CTD, Disgenet CTD, Disgenet	11938814	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	17977396, 21851314	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, BILIARY	—	CTD	30026087	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER FAILURE, ACUTE	—	CTD, Disgenet CTD, Disgenet	16750869, 18609519	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMBRANOUS GLOMERULONEPHRITIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROSIS	—	CTD, Disgenet CTD, Disgenet	3301049	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	CTD, Disgenet CTD, Disgenet	1556257, 17178036	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCCUPATIONAL DISEASES	—	CTD, Disgenet CTD, Disgenet	23791970	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC DISEASES	—	CTD	17169978	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATITIS	—	CTD, Disgenet CTD, Disgenet	17169977	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CHOLANGITIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROALBUMIN JAFFNA	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROALBUMIN LILLE	other	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROALBUMIN MALMO	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROTEINURIA	—	CTD	1011057, 10916085, 12217854, 14514721, 16326737, 18176075, 7288527, 7297036, 839733	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHINITIS, ALLERGIC, PERENNIAL	—	CTD, Disgenet CTD, Disgenet	19389874	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	CTD, Disgenet CTD, Disgenet	12239465	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	19424620	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	CTD	14514741, 16174931, 16809570, 17270091	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA	—	CTD, Disgenet CTD, Disgenet	6734075	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URTICARIA	—	CTD	8458210	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEITIS	—	CTD, Disgenet CTD, Disgenet	1556257	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

RELA 12 shared diseasesBiliary cirrhosis, Brain injuries, Brain ischemia, Cholelithiasis, Liver cirrhosis, Diabetic angiopathies, Diabetic neuropathy, Diabetic peripheral angiopathy, Hepatic insufficiency, Hepatomegaly, Kidney failure, Biliary cholangitis 21 shared evidence sourcesDisgenet (Biliary cirrhosis), CTD (Brain injuries), CTD (Brain ischemia), Disgenet (Brain ischemia), CTD (Cholelithiasis), Disgenet (Cholelithiasis), Disgenet (Ulcerative colitis), CTD (Ulcerative colitis), CTD (Diabetic angiopathies), Disgenet (Diabetic angiopathies), CTD (Diabetic neuropathy), Disgenet (Diabetic neuropathy) +9 more Related via 12 shared diseases including Biliary cirrhosis, Brain injuries — evidence mostly Disgenet. MPO 9 shared diseasesBrain disease, Brain injuries, Brain ischemia, Cholelithiasis, Pancreatitis, Liver cirrhosis, Kidney failure, Occupational disease, Urticaria 22 shared evidence sourcesCTD (Brain disease), Disgenet (Brain disease), CTD (Brain injuries), CTD (Brain ischemia), Disgenet (Brain ischemia), CTD (Cardiovascular disease), Disgenet (Cardiovascular disease), CTD (Cholelithiasis), Disgenet (Cholelithiasis), Disgenet (Kidney disease), Disgenet (Ulcerative colitis), CTD (Ulcerative colitis) +10 more Related via 9 shared diseases including Brain disease, Brain injuries — evidence mostly CTD. TGFB1 19 shared diseasesBiliary cirrhosis, Brain disease, Cerebrovascular disorder, Cholelithiasis, Liver cirrhosis, Diabetic neuropathy, Epilepsy, Heart disease, Hepatic insufficiency, Hepatomegaly, Hypersensitivity, Nephrotic syndrome +7 more 1 shared pathwayPlatelet degranulation 30 shared evidence sourcesDisgenet (Biliary cirrhosis), CTD (Brain disease), Disgenet (Brain disease), Disgenet (Cerebrovascular disorder), CTD (Cholelithiasis), Disgenet (Cholelithiasis), Disgenet (Kidney disease), CTD (Diabetic neuropathy), Disgenet (Diabetic neuropathy), CTD (Epilepsy), Disgenet (Epilepsy), CTD (Hypertension) +18 more Related via 19 shared diseases including Biliary cirrhosis, Brain disease — evidence mostly Disgenet. IGFBP1 6 shared diseasesBiliary cirrhosis, Liver cirrhosis, Diabetic angiopathies, Diabetic peripheral angiopathy, Kidney failure, Biliary cholangitis 2 shared pathwaysRegulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), Post-translational protein phosphorylation 7 shared evidence sourcesDisgenet (Biliary cirrhosis), Disgenet (Diabetic angiopathies), Disgenet (Diabetic peripheral angiopathy), Disgenet (Kidney failure), CTD (Liver cirrhosis), Disgenet (Liver cirrhosis), Disgenet (Biliary cholangitis) Related via 6 shared diseases including Biliary cirrhosis, Liver cirrhosis — evidence mostly Disgenet. SERPINE1 10 shared diseasesRhinitis, Cholelithiasis, Liver cirrhosis, Congestive heart failure, Glomerulonephritis, Diabetic angiopathies, Diabetic neuropathy, Diabetic peripheral angiopathy, Nephrotic syndrome, Kidney failure 1 shared pathwayPlatelet degranulation 17 shared evidence sourcesDisgenet (Rhinitis), CTD (Cholelithiasis), Disgenet (Cholelithiasis), Disgenet (Congestive heart failure), Disgenet (Glomerulonephritis), Disgenet (Diabetic angiopathies), CTD (Diabetic neuropathy), Disgenet (Diabetic neuropathy), Disgenet (Diabetic peripheral angiopathy), CTD (Hypertension), CTD (Heart failure), Disgenet (Heart failure) +5 more Related via 10 shared diseases including Rhinitis, Cholelithiasis — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
RELA	12	["Biliary cirrhosis","Brain injuries","Brain ischemia","Cholelithiasis","Liver cirrhosis","Diabetic angiopathies","Diabetic neuropathy","Diabetic peripheral angiopathy","Hepatic insufficiency","Hepatomegaly","Kidney failure","Biliary cholangitis"]	0	[]	21	["Disgenet (Biliary cirrhosis)","CTD (Brain injuries)","CTD (Brain ischemia)","Disgenet (Brain ischemia)","CTD (Cholelithiasis)","Disgenet (Cholelithiasis)","Disgenet (Ulcerative colitis)","CTD (Ulcerative colitis)","CTD (Diabetic angiopathies)","Disgenet (Diabetic angiopathies)","CTD (Diabetic neuropathy)","Disgenet (Diabetic neuropathy)"]
MPO	9	["Brain disease","Brain injuries","Brain ischemia","Cholelithiasis","Pancreatitis","Liver cirrhosis","Kidney failure","Occupational disease","Urticaria"]	0	[]	22	["CTD (Brain disease)","Disgenet (Brain disease)","CTD (Brain injuries)","CTD (Brain ischemia)","Disgenet (Brain ischemia)","CTD (Cardiovascular disease)","Disgenet (Cardiovascular disease)","CTD (Cholelithiasis)","Disgenet (Cholelithiasis)","Disgenet (Kidney disease)","Disgenet (Ulcerative colitis)","CTD (Ulcerative colitis)"]
TGFB1	19	["Biliary cirrhosis","Brain disease","Cerebrovascular disorder","Cholelithiasis","Liver cirrhosis","Diabetic neuropathy","Epilepsy","Heart disease","Hepatic insufficiency","Hepatomegaly","Hypersensitivity","Nephrotic syndrome"]	1	["Platelet degranulation "]	30	["Disgenet (Biliary cirrhosis)","CTD (Brain disease)","Disgenet (Brain disease)","Disgenet (Cerebrovascular disorder)","CTD (Cholelithiasis)","Disgenet (Cholelithiasis)","Disgenet (Kidney disease)","CTD (Diabetic neuropathy)","Disgenet (Diabetic neuropathy)","CTD (Epilepsy)","Disgenet (Epilepsy)","CTD (Hypertension)"]
IGFBP1	6	["Biliary cirrhosis","Liver cirrhosis","Diabetic angiopathies","Diabetic peripheral angiopathy","Kidney failure","Biliary cholangitis"]	2	["Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)","Post-translational protein phosphorylation"]	7	["Disgenet (Biliary cirrhosis)","Disgenet (Diabetic angiopathies)","Disgenet (Diabetic peripheral angiopathy)","Disgenet (Kidney failure)","CTD (Liver cirrhosis)","Disgenet (Liver cirrhosis)","Disgenet (Biliary cholangitis)"]
SERPINE1	10	["Rhinitis","Cholelithiasis","Liver cirrhosis","Congestive heart failure","Glomerulonephritis","Diabetic angiopathies","Diabetic neuropathy","Diabetic peripheral angiopathy","Nephrotic syndrome","Kidney failure"]	1	["Platelet degranulation "]	17	["Disgenet (Rhinitis)","CTD (Cholelithiasis)","Disgenet (Cholelithiasis)","Disgenet (Congestive heart failure)","Disgenet (Glomerulonephritis)","Disgenet (Diabetic angiopathies)","CTD (Diabetic neuropathy)","Disgenet (Diabetic neuropathy)","Disgenet (Diabetic peripheral angiopathy)","CTD (Hypertension)","CTD (Heart failure)","Disgenet (Heart failure)"]

Diseases Linked via Similar Genes

Colitis Linked via 3 of 5 related genesRELA, MPO, SERPINE1 Urethral obstruction Linked via 3 of 5 related genesRELA, TGFB1, SERPINE1 Asthma Linked via 3 of 5 related genesMPO, TGFB1, SERPINE1 Lung disease Linked via 3 of 5 related genesMPO, TGFB1, SERPINE1 Prostatic neoplasms Linked via 3 of 5 related genesMPO, TGFB1, SERPINE1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Colitis	3	["RELA","MPO","SERPINE1"]
Urethral obstruction	3	["RELA","TGFB1","SERPINE1"]
Asthma	3	["MPO","TGFB1","SERPINE1"]
Lung disease	3	["MPO","TGFB1","SERPINE1"]
Prostatic neoplasms	3	["MPO","TGFB1","SERPINE1"]