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Atlas / Disease / Alcoholic liver cirrhosis

Alcoholic liver cirrhosis

disease
On this page

Also known as alcoholic cirrhosisalcoholic cirrhosis of liver

Summary

Alcoholic liver cirrhosis (MONDO:0006644) is a disease with 20 cohort genes (20 GWAS associations across 5 studies) and 30 clinical trials. Top therapeutic interventions include losartan and baclofen.

At a glance

  • Cohort genes: 20
  • GWAS associations: 20
  • Clinical trials: 30

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namealcoholic liver cirrhosis
Mondo IDMONDO:0006644
EFOEFO:1000802
MeSHD008104
DOIDDOID:14018
ICD-10-CMK70.3
NCITC34782
SNOMED CT419728003
UMLSC0023891
MedGen6125
MedDRA10001618
Is cancer (heuristic)no

Also known as: alcoholic cirrhosis · alcoholic cirrhosis of liver

Data availability: 20 GWAS associations (5 studies) · 3 cell lines.

Disease family

Classification path: disease › human disease › disease by body system or component › digestive system disorder › hepatobiliary disorder › liver disorder › cirrhosis of liver › alcoholic liver cirrhosis

Related subtypes (2): hepatitis C induced liver cirrhosis, cirrhosis, familial

Genetics & variants

GWAS landscape

20 GWAS associations across 5 studies. Top hits map to 14 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs22949151e-58PNPLA3T0.74
rs7384092e-48PNPLA3G2.19
rs104019695e-11SUGP1T0.47
rs104339373e-10HSD17B13T0.26
rs6262831e-09TMC4 - MBOAT7C1.35
rs37949913e-09GATAD2AT0.42
rs730049671e-08PBX4A0.55
rs289294741e-08SERPINA1T0.72
rs111349771e-07FAF2T0.22
rs25764527e-07TMC4T0.23
rs103928e-07PPP1R16BA1.25
rs104247021e-06GATAD2AA0.24
rs94944171e-06PDE7BA0.34
rs14825882e-06ADAMTS9-AS2 - LINC02040A0.52
rs16769882e-06TAF4BA0.31
rs4545103e-06PHGDHA1.21
rs1153353723e-06LINC02290T0.83
rs47499004e-06LINC02663 - LINC02670T0.43
rs20282015e-06SPATS2LT1.18

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90428821Schwantes-An TH20241,8402,465A polygenic risk score for alcohol-associated cirrhosis among heavy drinkers with European ancestry.
GCST004757Treutlein J20171,3313,684Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis.
GCST011639Schwantes-An TH20201,1280Genome-wide association study and meta-analysis on alcohol-related liver cirrhosis identifies novel genetic risk factors.
GCST004755Treutlein J20171,1101,750Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis.
GCST003153Buch S20157121,426A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding2
Tier 2: splice/UTR1
Tier 3: regulatory1
Tier 4: intronic/intergenic15

MAF distribution

BucketVariants
common (>=0.05)18
low_freq (0.01-0.05)1
rare (<0.01)0
unknown0

Functional consequences

ConsequenceCount
intron_variant14
missense_variant2
regulatory_region_variant1
3_prime_UTR_variant1
intergenic_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs22949152243945024C>G,T0.05intron_variantPNPLA31e-58Tier 4: intronic/intergenic
rs7384092243928847C>A,G,T0.27missense_variantPNPLA32e-48Tier 1: coding
rs104019691919296909T>C0.05intron_variantSUGP15e-11Tier 4: intronic/intergenic
rs10433937487308948T>A,C,G0.05intron_variantHSD17B133e-10Tier 4: intronic/intergenic
rs6262831954173307C>G0.44regulatory_region_variantTMC4 - MBOAT71e-09Tier 3: regulatory
rs37949911919499787C>G,T0.05intron_variantGATAD2A3e-09Tier 4: intronic/intergenic
rs730049671919606247A>G0.05intron_variantPBX41e-08Tier 4: intronic/intergenic
rs289294741494378610C>A,G,T0.05missense_variantSERPINA11e-08Tier 1: coding
rs111349775176477140T>C,G0.05intron_variantFAF21e-07Tier 4: intronic/intergenic
rs25764521954172738T>A,C,G0.05intron_variantTMC47e-07Tier 4: intronic/intergenic
rs103922038922292G>A0.183_prime_UTR_variantPPP1R16B8e-07Tier 2: splice/UTR
rs104247021919397204A>G,T0.05intron_variantGATAD2A1e-06Tier 4: intronic/intergenic
rs94944176135923525G>A0.05intron_variantPDE7B1e-06Tier 4: intronic/intergenic
rs1482588365151654A>G0.05intron_variantADAMTS9-AS2 - LINC020402e-06Tier 4: intronic/intergenic
rs16769881826338981C>A,G,T0.05intron_variantTAF4B2e-06Tier 4: intronic/intergenic
rs4545101119652419A>C,G,T0.027intron_variantPHGDH3e-06Tier 4: intronic/intergenic
rs1153353721466124912C>T0.05intron_variantLINC022903e-06Tier 4: intronic/intergenic
rs4749900109886549C>A,T0.05intergenic_variantLINC02663 - LINC026704e-06Tier 4: intronic/intergenic
rs20282012200438287G>C,T0.376intron_variantSPATS2L5e-06Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 5 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
TAF4BOrphanet:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation
MBOAT7Orphanet:88616Autosomal recessive non-syndromic intellectual disability
SERPINA1Orphanet:178396Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
SERPINA1Orphanet:586Cystic fibrosis
SERPINA1Orphanet:60Alpha-1-antitrypsin deficiency

Cohort genes → proteins

20 cohort genes, 18 distinct canonical proteins.

Evidence partition

SubsetGenes
gwas_only20

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
TAF4BHGNC:11538ENSG00000141384Q92750Transcription initiation factor TFIID subunit 4Bgwas
TM6SF2HGNC:11861ENSG00000213996Q9BZW4Transmembrane 6 superfamily member 2gwas
PBX4HGNC:13403ENSG00000105717Q9BYU1Pre-B-cell leukemia transcription factor 4gwas
MBOAT7HGNC:15505ENSG00000125505Q96N66Membrane-bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7gwas
PPP1R16BHGNC:15850ENSG00000101445Q96T49Protein phosphatase 1 regulatory inhibitor subunit 16Bgwas
SACK1DHGNC:16122ENSG00000101447Q9H4H8Protein FAM83Dgwas
PNPLA3HGNC:18590ENSG00000100344Q9NST11-acylglycerol-3-phosphate O-acyltransferase PNPLA3gwas
SUGP1HGNC:18643ENSG00000105705Q8IWZ8SURP and G-patch domain-containing protein 1gwas
HSD17B13HGNC:18685ENSG00000170509Q7Z5P417-beta-hydroxysteroid dehydrogenase 13gwas
CCDC196HGNC:20100ENSG00000196553A0A1B0GTZ2Coiled-coil domain-containing protein 196gwas
CNKSR3HGNC:23034ENSG00000153721Q6P9H4Connector enhancer of kinase suppressor of ras 3gwas
SPATS2LHGNC:24574ENSG00000196141Q9NUQ6SPATS2-like proteingwas
FAF2HGNC:24666ENSG00000113194Q96CS3FAS-associated factor 2gwas
GATAD2AHGNC:29989ENSG00000167491Q86YP4Transcriptional repressor p66-alphagwas
ZNF697HGNC:32034ENSG00000143067Q5TEC3Zinc finger protein 697gwas
FUT8HGNC:4019ENSG00000033170Q9BYC5Alpha-(1,6)-fucosyltransferasegwas
ADAMTS9-AS2HGNC:42435ENSG00000241684ADAMTS9 antisense RNA 2gwas
LINC02663HGNC:54149ENSG00000228636long intergenic non-protein coding RNA 2663gwas
PDE7BHGNC:8792ENSG00000171408Q9NP563’,5’-cyclic-AMP phosphodiesterase 7Bgwas
SERPINA1HGNC:8941ENSG00000197249P01009Alpha-1-antitrypsingwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
TAF4BTranscription initiation factor TFIID subunit 4BCell type-specific subunit of the general transcription factor TFIID that may function as a gene-selective coactivator in certain cells.
TM6SF2Transmembrane 6 superfamily member 2Regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content.
MBOAT7Membrane-bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7Acyltransferase which catalyzes the transfer of an acyl group from an acyl-CoA to a lysophosphatidylinositol (1-acylglycerophosphatidylinositol or LPI) leading to the production of a phosphatidylinositol (1,2-diacyl-sn-glycero-3-phosphoino…
PPP1R16BProtein phosphatase 1 regulatory inhibitor subunit 16BRegulator of protein phosphatase 1 (PP1) that acts as a positive regulator of pulmonary endothelial cell (EC) barrier function.
SACK1DProtein FAM83DThrough the degradation of FBXW7, may act indirectly on the expression and downstream signaling of MTOR, JUN and MYC.
PNPLA31-acylglycerol-3-phosphate O-acyltransferase PNPLA3Specifically catalyzes coenzyme A (CoA)-dependent acylation of 1-acyl-sn-glycerol 3-phosphate (2-lysophosphatidic acid/LPA) to generate phosphatidic acid (PA), an important metabolic intermediate and precursor for both triglycerides and gl…
SUGP1SURP and G-patch domain-containing protein 1Plays a role in pre-mRNA splicing.
HSD17B1317-beta-hydroxysteroid dehydrogenase 13Plays a pivotal role in hepatic lipid metabolism.
CNKSR3Connector enhancer of kinase suppressor of ras 3Involved in transepithelial sodium transport.
FAF2FAS-associated factor 2Plays an important role in endoplasmic reticulum-associated degradation (ERAD) that mediates ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins.
GATAD2ATranscriptional repressor p66-alphaTranscriptional repressor.
ZNF697Zinc finger protein 697RNA-interacting protein with a high number of miRNA targets.
FUT8Alpha-(1,6)-fucosyltransferaseCatalyzes the addition of fucose in alpha 1-6 linkage to the first GlcNAc residue, next to the peptide chains in N-glycans.
PDE7B3’,5’-cyclic-AMP phosphodiesterase 7BHydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes.
SERPINA1Alpha-1-antitrypsinInhibitor of serine proteases.

Protein-family classification

Druggable: 1 · Difficult: 7 · Unknown: 12 · Druggable fraction: 0.05

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

FamilyGenesFoldFDR
Scaffold/PPI32.6×0.423
Transcription factor41.6×0.435
Other/Unknown121.1×0.591
Enzyme (other)10.6×0.825

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
TAF4BOther/UnknownnoTAFH_NHR1, TAF4_C, Histone-fold
TM6SF2Other/UnknownnoEXPERA, TM6SF1-like, TM_Tm6sf1/2
PBX4Transcription factornoHD, PBX_PBC_dom, KN_HD
MBOAT7Enzyme (other)yes2.3.1.B46MBOAT_fam, LPLAT_7/PORCN-like
PPP1R16BScaffold/PPInoAnkyrin_rpt, Pase-1_reg_su_16AB, Ankyrin_rpt-contain_sf
SACK1DOther/UnknownnoSACK1, FAM83
PNPLA3Other/UnknownnoPNPLA_dom, Acyl_Trfase/lysoPLipase, PLPL
SUGP1Other/UnknownnoSurp, G_patch_dom, SWAP/Surp_sf
HSD17B13Other/UnknownnoSDR_fam, NAD(P)-bd_dom_sf
CCDC196Other/UnknownnoCCDC196
CNKSR3Scaffold/PPInoPDZ, SAM, CNK2/3_dom
SPATS2LOther/UnknownnoUBA-like_sf, SPATS2-like
FAF2Other/UnknownnoUBX_dom, UAS, UBA-like_sf
GATAD2ATranscription factornoZnf_GATA, P66_CC, P66
ZNF697Transcription factornoZnf_C2H2_type, Znf_C2H2_sf, Zinc_finger_PRDM4/PRDM1/PRDM14
FUT8Scaffold/PPIno2.4.1.68SH3_domain, Fut8, GT23_dom
ADAMTS9-AS2Other/Unknownno
LINC02663Other/Unknownno
PDE7BTranscription factorno3.1.4.53PDEase_catalytic_dom, HD/PDEase_dom, PDEase
SERPINA1Other/UnknownnoSerpin_fam, Serpin_CS, Serpin_dom

Expression context

Cohort genes with no expression data: 0.

18 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)20
unknown0

Top tissues across cohort

TissueCohort genes
buccal mucosa cell3
ileal mucosa3
right lobe of liver3
right testis3
blood2
lateral globus pallidus2
esophagus squamous epithelium2
pigmented layer of retina2
liver2
left testis2
parotid gland2
calcaneal tendon2
oocyte1
secondary oocyte1
duodenum1
jejunal mucosa1
left lobe of thyroid gland1
right lobe of thyroid gland1
thyroid gland1
right adrenal gland1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
TAF4B243ubiquitousmarkersecondary oocyte, buccal mucosa cell, oocyte
TM6SF2151broadmarkerileal mucosa, jejunal mucosa, duodenum
PBX4174ubiquitousmarkerright lobe of thyroid gland, left lobe of thyroid gland, thyroid gland
MBOAT7141ubiquitousmarkerblood, right adrenal gland, right adrenal gland cortex
PPP1R16B257broadmarkerCA1 field of hippocampus, lateral globus pallidus, orbitofrontal cortex
SACK1D199ubiquitousmarkeresophagus squamous epithelium, pharyngeal mucosa, mucosa of stomach
PNPLA3178ubiquitousmarkerpigmented layer of retina, buccal mucosa cell, right lobe of liver
SUGP1262ubiquitousmarkerlower esophagus mucosa, right testis, right hemisphere of cerebellum
HSD17B13127tissue_specificyesliver, right lobe of liver, olfactory segment of nasal mucosa
CCDC196136tissue_specificmarkersperm, left testis, right testis
CNKSR3242ubiquitousmarkeresophagus squamous epithelium, pigmented layer of retina, ileal mucosa
SPATS2L286ubiquitousmarkerpancreatic ductal cell, parotid gland, metanephric glomerulus
FAF2290ubiquitousmarkerparotid gland, gingival epithelium, gingiva
GATAD2A272ubiquitousmarkerbuccal mucosa cell, tendon of biceps brachii, ileal mucosa
ZNF697207ubiquitousmarkercartilage tissue, kidney epithelium, cortical plate
FUT8279ubiquitousmarkercorpus callosum, olfactory bulb, male germ line stem cell (sensu Vertebrata) in testis
ADAMTS9-AS2198broadmarkersural nerve, renal medulla, calcaneal tendon
LINC0266386tissue_specificyesleft testis, right testis, testis
PDE7B233ubiquitousmarkergerminal epithelium of ovary, calcaneal tendon, lateral globus pallidus
SERPINA1133ubiquitousmarkerright lobe of liver, liver, blood

Protein interactions among cohort

Intra-cohort edges: 10.

Hub genes (top 10 by interactor count)

SymbolInteractor count
SERPINA13,617
HSD17B133,393
FAF22,954
GATAD2A2,526
SUGP12,164
PPP1R16B1,851
FUT81,447
PNPLA31,441
MBOAT71,217
SACK1D1,157

Intra-cohort edges

ABSources
CCDC196FUT8string_interaction
GATAD2ASUGP1intact
HSD17B13MBOAT7string_interaction
HSD17B13PNPLA3string_interaction
HSD17B13TM6SF2string_interaction
MBOAT7PNPLA3string_interaction
MBOAT7TM6SF2string_interaction
PNPLA3TM6SF2string_interaction
PPP1R16BSACK1Dstring_interaction
SUGP1TM6SF2string_interaction

Structural data

PDB: 8 · AlphaFold-only: 10 · No structure: 2

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
SERPINA1P0100946
FUT8Q9BYC514
SUGP1Q8IWZ83
SACK1DQ9H4H82
MBOAT7Q96N661
HSD17B13Q7Z5P41
FAF2Q96CS31
GATAD2AQ86YP41

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
TM6SF2Q9BZW491.03
PDE7BQ9NP5679.84
PBX4Q9BYU174.29
PNPLA3Q9NST171.70
PPP1R16BQ96T4970.73
CCDC196A0A1B0GTZ268.50
ZNF697Q5TEC365.99
CNKSR3Q6P9H464.67
SPATS2LQ9NUQ663.72
TAF4BQ9275056.15

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 68. Enrichment computed across 20 evidence-associated genes (12 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 12 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Lipid particle organization1158.6×0.183HSD17B13
Acyl chain remodeling of DAG and TAG1135.9×0.183PNPLA3
Reactions specific to the complex N-glycan synthesis pathway195.2×0.183FUT8
Acyl chain remodelling of PI156.0×0.183MBOAT7
Regulation of TP53 Activity through Acetylation138.1×0.183GATAD2A
Transcriptional regulation of brown and beige adipocyte differentiation by EBF2131.7×0.183GATAD2A
Glycerophospholipid biosynthesis128.0×0.183MBOAT7
Cargo concentration in the ER128.0×0.183SERPINA1
Signaling by EGFR127.2×0.183SACK1D
Maturation of spike protein122.1×0.183FUT8
HIV Transcription Initiation119.4×0.183TAF4B
RNA Polymerase II HIV Promoter Escape119.4×0.183TAF4B
RNA Polymerase II Promoter Escape119.4×0.183TAF4B
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening119.4×0.183TAF4B
RNA Polymerase II Transcription Initiation119.4×0.183TAF4B
RNA Polymerase II Transcription Initiation And Promoter Clearance119.4×0.183TAF4B
RNA Polymerase I Transcription Initiation118.7×0.183GATAD2A
Phospholipid metabolism116.7×0.183MBOAT7
Regulation of PTEN gene transcription114.9×0.183GATAD2A
Transcription of the HIV genome114.4×0.183TAF4B
Late Phase of HIV Life Cycle114.0×0.183TAF4B
COPII-mediated vesicle transport113.6×0.183SERPINA1
Response to elevated platelet cytosolic Ca2+113.6×0.183SERPINA1
HIV Life Cycle113.4×0.183TAF4B
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression112.7×0.183GATAD2A
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)112.2×0.183GATAD2A
NuRD complex assembly111.8×0.183GATAD2A
RNA Polymerase II Pre-transcription Events111.5×0.183TAF4B
ER to Golgi Anterograde Transport111.1×0.183SERPINA1
Regulation of TP53 Activity111.1×0.183TAF4B

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 16 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
lipid droplet organization2117.0×0.011PNPLA3, FAF2
triglyceride acyl-chain remodeling11053.2×0.018PNPLA3
receptor metabolic process11053.2×0.018FUT8
GDP-L-fucose metabolic process11053.2×0.018FUT8
lipid homeostasis242.1×0.018TM6SF2, PNPLA3
protein localization to mitotic spindle1526.6×0.024SACK1D
cellular response to 3,3’,5-triiodo-L-thyronine1526.6×0.024PNPLA3
acylglycerol acyl-chain remodeling1263.3×0.042PNPLA3
response to sucrose1210.7×0.044PNPLA3
glycerophospholipid metabolic process1175.5×0.044PNPLA3
phosphatidylinositol acyl-chain remodeling1175.5×0.044MBOAT7
stress granule disassembly1150.5×0.044FAF2
regulation of sprouting angiogenesis1150.5×0.044PPP1R16B
regulation of triglyceride metabolic process1131.7×0.044MBOAT7
cAMP catabolic process1117.0×0.044PDE7B
lipid modification1117.0×0.044MBOAT7
negative regulation of peptidyl-serine phosphorylation1105.3×0.044CNKSR3
L-fucose catabolic process1105.3×0.044FUT8
positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis1105.3×0.044PPP1R16B
regulation of cell fate specification181.0×0.048GATAD2A
regulation of cellular response to oxidative stress181.0×0.048FUT8
layer formation in cerebral cortex170.2×0.048MBOAT7
phosphatidylcholine acyl-chain remodeling170.2×0.048MBOAT7
positive regulation of cell cycle G1/S phase transition170.2×0.048SACK1D
metaphase chromosome alignment165.8×0.048SACK1D
regulation of filopodium assembly165.8×0.048PPP1R16B
retrograde protein transport, ER to cytosol162.0×0.048FAF2
regulation of TOR signaling158.5×0.048SACK1D
positive regulation of lipid biosynthetic process155.4×0.048HSD17B13
fibroblast migration152.7×0.048FUT8

Therapeutics

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Ademetionine.

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 2 · Phased (≥1): 2 · Undrugged: 18

Druggability breadth: 6 of 20 evidence-associated genes (30%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

SymbolExample approved molecule
PDE7BVARDENAFIL

Top cohort targets by molecule count

SymbolMoleculesMax phase
PDE7B34
HSD17B1313
TAF4B00
TM6SF200
PBX400
MBOAT700
PPP1R16B00
SACK1D00
PNPLA300
SUGP100

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
VARDENAFIL4PDE7B
DIPYRIDAMOLE4PDE7B
CILOFEXOR3HSD17B13
LENRISPODUN PHOSPHATE1PDE7B

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 3.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

SymbolAssaysType breakdown
PDE7B89Binding:83, ADMET:4, Functional:1, Toxicity:1
HSD17B1322Binding:20, Functional:2
GATAD2A7Binding:7
FUT82Binding:2
MBOAT71Binding:1
SPATS2L1Binding:1

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
MBOAT72.3.1.B46
FUT82.4.1.68glycoprotein 6-alpha-L-fucosyltransferase
PDE7B3.1.4.533’,5’-cyclic-AMP phosphodiesterase

Pharmacogenomics

Cohort genes with a PharmGKB record: 18; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

4 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

CompoundMax phaseCohort target (bioactivity)
VARDENAFIL4PDE7B
DIPYRIDAMOLE4PDE7B
CILOFEXOR3HSD17B13
LENRISPODUN PHOSPHATE1PDE7B

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1PDE7B
BPhased (≥1) drug, not yet approved1HSD17B13
CDruggable family + PDB, no drug1MBOAT7
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug17TAF4B, TM6SF2, PBX4, PPP1R16B, SACK1D, PNPLA3, SUGP1, CCDC196, CNKSR3, SPATS2L (+7 more)

Undrugged target profiles

18 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

SymbolChEMBL assaysDrugged partners (top 3)
TM6SF20HSD17B13
MBOAT71HSD17B13
PNPLA30HSD17B13
TAF4B0—
PBX40—
PPP1R16B0—
SACK1D0—
SUGP10—
CCDC1960—
CNKSR30—
SPATS2L1—
FAF20—
GATAD2A7—
ZNF6970—
FUT82—
ADAMTS9-AS20—
LINC026630—
SERPINA10—

Clinical trials & evidence

Clinical trials

Clinical trials: 30.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified18
PHASE25
PHASE42
PHASE32
PHASE12
EARLY_PHASE11

Top trials by phase / activity

NCTPhaseStatusTitle
NCT00188045PHASE4TERMINATEDHemodynamic Effects of Chronic Administration of Spironolactone and/or Propranolol in Alcoholic Cirrhotic Patients
NCT00239096PHASE4UNKNOWNPrevention of Decompensation in Liver Cirrhosis
NCT04689152PHASE3RECRUITINGClinical Trial to Evaluate the Efficacy and Safety of Cellgram-LC Administration in Patients With Alcoholic Cirrhosis
NCT01342705PHASE3TERMINATEDPhlebotomy and Risk of Hepatocellular Carcinoma in Patients With Compensated Alcoholic Cirrhosis
NCT04250259PHASE2RECRUITINGSAMe Trial for Patients With Alcoholic Cirrhosis
NCT05832229PHASE2RECRUITINGLiver Cirrhosis Network Rosuvastatin Efficacy and Safety for Cirrhosis in the United States
NCT01591200PHASE2COMPLETEDDose Finding Study to Assess Safety and Efficacy of Stem Cells in Liver Cirrhosis
NCT01741090PHASE2UNKNOWNThe Effectiveness and Safety for Mesenchymal Stem Cell for Alcoholic Liver Cirrhosis
NCT01875081PHASE2COMPLETEDREVIVE(Randomized Exploratory Clinical Trial to Evaluate the Safety and Effectiveness of Stem Cell Product in Alcoholic Liver Cirrhosis Patient)
NCT03838250PHASE1UNKNOWNStudy to Evaluate Hepatic Artery Injection of Autologous Human Bone Marrow-Derived MSCs in Patients With Alcoholic LC
NCT05155657PHASE1UNKNOWNStudy of Decompensated Alcoholic Cirrhosis Treatment by Stem Cells
NCT02326103EARLY_PHASE1COMPLETEDRandomised Open-label Multicenter Study Evaluating Ciprofloxacin in Severe Alcoholic Hepatitis
NCT04106518Not specifiedRECRUITINGStudy of Genetic Determinants in Alcoholic Hepatitis and Establishment of a Multicenter Prospective Cohort of Patients With Alcoholic Liver Disease
NCT05093881Not specifiedRECRUITINGLong-term Follow-up of Patients With Alcoholic Liver Cirrhosis Who Had Administered Cellgram-LC in PMC-P-07 Study
NCT05740358Not specifiedACTIVE_NOT_RECRUITINGLiver Cirrhosis Network Cohort Study
NCT06840652Not specifiedENROLLING_BY_INVITATIONSafety & Efficacy of Baclofen for Alcohol Withdrawal in Chronic Liver Disease With Active Alcohol Consumption
NCT06866496Not specifiedRECRUITINGOptimized Remission in Alcohol-related Liver Cirrhosis
NCT00388323Not specifiedCOMPLETEDAdipose Tissue Involvement in Alcohol-induced Liver Inflammation in Human
NCT00827723Not specifiedCOMPLETEDIndocyanine Green and Portal Pressure in Viral and Alcoholic Cirrhotic Patients With Hepatocarcinoma
NCT01065233Not specifiedCOMPLETEDPangenomic Study During Alcoholic Cirrhosis
NCT01213927Not specifiedUNKNOWNNational Cohort of Uncomplicated Alcoholic Cirrhosis
NCT01756794Not specifiedCOMPLETEDValidation of the Procedure of Early Liver Transplantation in Alcoholic Hepatitis Resisting to Medical Treatment
NCT02072746Not specifiedCOMPLETEDZinc Supplementation in Alcoholic Cirrhosis
NCT02806011Not specifiedCOMPLETEDLong-term Follow-up Study of Livercellgram in Alcoholic LC Patients Who Completed Livercellgram Phase 2 Study
NCT03508388Not specifiedTERMINATEDValue on Survival of Liver Volume After an Acute Decompensation of an Alcoholic Cirrhosis
NCT03534141Not specifiedTERMINATEDMild Hypothermia and Acute Kidney Injury in Liver Transplantation
NCT04070508Not specifiedWITHDRAWNEarly Detection of Alcoholic Liver Disease
NCT04245189Not specifiedUNKNOWNEUS Based Prevalence of Chronic Pancreatitis in Alcoholic Cirrhosis
NCT04363424Not specifiedUNKNOWNAlcohol Biomarker Study
NCT06093919Not specifiedCOMPLETEDStudy of Prevalence of Eating Disorder in Liver Transplant Patients

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
LOSARTAN42
BACLOFEN41

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

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Sources 73

This page pulls from 73 datasets indexed by BioBTree:

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