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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 14890

FusionGeneSummary for GNAS_SNW1

check button Fusion gene summary
Fusion gene informationFusion gene name: GNAS_SNW1
Fusion gene ID: 14890
HgeneTgene
Gene symbol

GNAS

SNW1

Gene ID

2778

22938

Gene nameGNAS complex locusSNW domain containing 1
SynonymsAHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PITA3|POH|SCG6|SgVIBx42|FUN20|NCOA-62|PRPF45|Prp45|SKIIP|SKIP|SKIP1
Cytomap

20q13.32

14q24.3

Type of geneprotein-codingprotein-coding
Descriptionprotein ALEXprotein GNASprotein SCG6 (secretogranin VI)G protein subunit alpha Sadenylate cyclase-stimulating G alpha proteinalternative gene product encoded by XL-exonextra large alphas proteinguanine nucleotide binding protein (G protein), alpha SNW domain-containing protein 1SKI interacting proteinhomolog of Drosophila BX42nuclear protein SkiPnuclear receptor coactivator NCoA-62nuclear receptor coactivator, 62-kDski-interacting protein
Modification date2018052320180519
UniProtAcc

Q5JWF2

Q13573

Ensembl transtripts involved in fusion geneENST00000313949, ENST00000371098, 
ENST00000371075, ENST00000371100, 
ENST00000371099, ENST00000371102, 
ENST00000464624, ENST00000306120, 
ENST00000371095, ENST00000371085, 
ENST00000354359, ENST00000265620, 
ENST00000306090, ENST00000371081, 
ENST00000261531, ENST00000554775, 
ENST00000555761, 
Fusion gene scores* DoF score34 X 18 X 17=1040415 X 4 X 12=720
# samples 4616
** MAII scorelog2(46/10404*10)=-4.49936063299862
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/720*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GNAS [Title/Abstract] AND SNW1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneSNW1

GO:0000122

negative regulation of transcription by RNA polymerase II

14985122

TgeneSNW1

GO:0000398

mRNA splicing, via spliceosome

15194481|28076346

TgeneSNW1

GO:0030511

positive regulation of transforming growth factor beta receptor signaling pathway

11278756

TgeneSNW1

GO:0043923

positive regulation by host of viral transcription

15905409

TgeneSNW1

GO:0045892

negative regulation of transcription, DNA-templated

10713164|15878163

TgeneSNW1

GO:0045944

positive regulation of transcription by RNA polymerase II

14985122|19934264

TgeneSNW1

GO:0048384

retinoic acid receptor signaling pathway

19934264

TgeneSNW1

GO:0048385

regulation of retinoic acid receptor signaling pathway

14985122

TgeneSNW1

GO:0070562

regulation of vitamin D receptor signaling pathway

14985122

TgeneSNW1

GO:0070564

positive regulation of vitamin D receptor signaling pathway

9632709|11514567

TgeneSNW1

GO:0071300

cellular response to retinoic acid

19934264


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVCESCTCGA-JX-A3PZ-01AGNASchr20

57486241

+SNW1chr14

78189203

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000313949ENST00000261531GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000313949ENST00000554775GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000313949ENST00000555761GNASchr20

57486241

+SNW1chr14

78189203

-
intron-intronENST00000371098ENST00000261531GNASchr20

57486241

+SNW1chr14

78189203

-
intron-intronENST00000371098ENST00000554775GNASchr20

57486241

+SNW1chr14

78189203

-
intron-intronENST00000371098ENST00000555761GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000371075ENST00000261531GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000371075ENST00000554775GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000371075ENST00000555761GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000371100ENST00000261531GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000371100ENST00000554775GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000371100ENST00000555761GNASchr20

57486241

+SNW1chr14

78189203

-
intron-intronENST00000371099ENST00000261531GNASchr20

57486241

+SNW1chr14

78189203

-
intron-intronENST00000371099ENST00000554775GNASchr20

57486241

+SNW1chr14

78189203

-
intron-intronENST00000371099ENST00000555761GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000371102ENST00000261531GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000371102ENST00000554775GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000371102ENST00000555761GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000464624ENST00000261531GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000464624ENST00000554775GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000464624ENST00000555761GNASchr20

57486241

+SNW1chr14

78189203

-
intron-intronENST00000306120ENST00000261531GNASchr20

57486241

+SNW1chr14

78189203

-
intron-intronENST00000306120ENST00000554775GNASchr20

57486241

+SNW1chr14

78189203

-
intron-intronENST00000306120ENST00000555761GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000371095ENST00000261531GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000371095ENST00000554775GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000371095ENST00000555761GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000371085ENST00000261531GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000371085ENST00000554775GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000371085ENST00000555761GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000354359ENST00000261531GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000354359ENST00000554775GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000354359ENST00000555761GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000265620ENST00000261531GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000265620ENST00000554775GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000265620ENST00000555761GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000306090ENST00000261531GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000306090ENST00000554775GNASchr20

57486241

+SNW1chr14

78189203

-
5CDS-intronENST00000306090ENST00000555761GNASchr20

57486241

+SNW1chr14

78189203

-
intron-intronENST00000371081ENST00000261531GNASchr20

57486241

+SNW1chr14

78189203

-
intron-intronENST00000371081ENST00000554775GNASchr20

57486241

+SNW1chr14

78189203

-
intron-intronENST00000371081ENST00000555761GNASchr20

57486241

+SNW1chr14

78189203

-

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FusionProtFeatures for GNAS_SNW1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GNAS

Q5JWF2

SNW1

Q13573

Guanine nucleotide-binding proteins (G proteins)function as transducers in numerous signaling pathways controlledby G protein-coupled receptors (GPCRs). Signaling involves theactivation of adenylyl cyclases, resulting in increased levels ofthe signaling molecule cAMP. GNAS functions downstream of severalGPCRs, including beta-adrenergic receptors. XLas isoforms interactwith the same set of receptors as GNAS isoforms (By similarity).{ECO:0000250|UniProtKB:Q6R0H7}. Involved in pre-mRNA splicing as component of thespliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346).Is required in the specific splicing of CDKN1A pre-mRNA; thefunction probably involves the recruitment of U2AF2 to the mRNA.Is proposed to recruit PPIL1 to the spliceosome. May be involvedin cyclin-D1/CCND1 mRNA stability through the SNARP complex whichassociates with both the 3'end of the CCND1 gene and its mRNA.Involved in transcriptional regulation. Modulates TGF-beta-mediated transcription via association with SMAD proteins, MYOD1-mediated transcription via association with PABPN1, RB1-mediatedtranscriptional repression, and retinoid-X receptor (RXR)- andvitamin D receptor (VDR)-dependent gene transcription in a cellline-specific manner probably involving coactivators NCOA1 andGRIP1. Is involved in NOTCH1-mediated transcriptional activation.Binds to multimerized forms of Notch intracellular domain (NICD)and is proposed to recruit transcriptional coactivators such asMAML1 to form an intermediate preactivation complex whichassociates with DNA-bound CBF-1/RBPJ to form a transcriptionalactivation complex by releasing SNW1 and redundant NOTCH1 NICD.{ECO:0000269|PubMed:10644367, ECO:0000269|PubMed:11278756,ECO:0000269|PubMed:11371506, ECO:0000269|PubMed:11514567,ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:12840015,ECO:0000269|PubMed:14985122, ECO:0000269|PubMed:15194481,ECO:0000269|PubMed:15905409, ECO:0000269|PubMed:18794151,ECO:0000269|PubMed:19818711, ECO:0000269|PubMed:21245387,ECO:0000269|PubMed:21460037, ECO:0000269|PubMed:28076346,ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:9632709}. (Microbial infection) Is recruited by HIV-1 Tat toTat:P-TEFb:TAR RNA complexes and is involved in Tat transcriptionby recruitment of MYC, MEN1 and TRRAP to the HIV promoter.{ECO:0000269|PubMed:15905409, ECO:0000269|PubMed:19818711}. (Microbial infection) Proposed to be involved intranscriptional activation by EBV EBNA2 of CBF-1/RBPJ-repressedpromoters. {ECO:0000269|PubMed:10644367}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for GNAS_SNW1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for GNAS_SNW1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
GNASFSCN1, PAICS, RUVBL1, SHMT2, TTC1, ADCY6, CRHR1, RGS2, SNX13, VIPR1, GNAS, MDM2, CALM1, GNG2, PCK1, ADRB2, AVPR2, TBXA2R, GNB1, GNAQ, GNA11, SLC25A12, LAMTOR1, NUCB1, NUCB2, HLA-A, OPTN, PTGIR, FUS, AXIN1, PANX1, CCDC8, EGFR, JAK3, GNAL, GNG4, TRO, MAGED2, GNB2, GNB4, C1QBP, METAP2, CPT2, YBEY, GNG10, OCIAD1, GNA12, ARMCX3, GNG5, EIF4H, EML2, GIPC1, DIS3, PFAS, NTRK1, RIC8B, CHEK2, HERC2, XPO1, CAT, DBN1, FLNA, MYH9, DNAJC7, SYNPO, THOC2, ELMSAN1, ADCY2, CDC5L, CD47, GLP1R, NAP1L1, MTNR1B, TRIM25SNW1SKI, RBPJ, CIR1, HDAC2, SIN3A, NCOR2, SND1, NOTCH1, NOTCH3, ASCC2, RB1, RBL1, RBL2, SMAD2, SMAD3, SMAD4, SKIL, VDR, PABPN1, MYOD1, RXRA, NCOA2, NCOA1, TCEA2, CCNT1, MYC, CDK9, KMT2A, MEN1, IKBKG, PCBD2, TRIM15, ZSCAN1, SRRM1, NCOR1, EP300, TADA2A, PRPF8, UBR5, ZMAT3, EFTUD2, HNRNPU, DDB1, SFPQ, DDX23, CDC5L, HSPA5, PFKL, ABCF2, TUBB4A, EEF1G, EEF1A1, TUBB1, MSH2, NR0B1, NR0B2, ACTN2, CKAP5, MAPK6, TNNT1, VAV2, SIRT7, PRKAA2, CUL3, CUL2, DAXX, LNX1, MAGEA1, TOP1, PABPC1, CWC27, DHX38, SKIV2L2, DHX15, SNRPD2, DDX5, RAD21, EIF4A3, MAGOH, NHP2L1, SART1, CTNNBL1, XAB2, SNIP1, MFAP1, ZNF830, CXorf56, TTC14, HDAC11, HECW2, AURKB, TP53, TUBGCP3, GOLGA2, TRAF1, IKZF1, MTUS2, TFIP11, PPIL1, CEP55, TEX11, RINT1, LZTS2, KRT40, NXF1, MSL1, ZDHHC17, CUL7, OBSL1, SIRT1, RARA, SUZ12, RNF2, BMI1, OCLN, SNRPA1, DHX8, TSSC4, USB1, FHL3, PPIE, WDR83, CCDC94, LUC7L2, HSPB1, NTRK1, GCN1L1, HARS, HNRNPR, PFKM, PRPF4, SEPT2, SEPT7, SNRNP200, BUD31, CDC40, CRNKL1, PFKP, PLRG1, PRPF19, SARS, TRMT6, SYF2, TTC37, VARS, MUS81, KRAS, SF3B4, SYNCRIP, CPSF4, HNRNPA0, EBNA1BP2, CLP1, CPSF6, SRSF3, HNRNPA3, RBMX, CPSF1, HNRNPA1, HNRNPAB, HNRNPD, NCBP1, PCF11, LUC7L3, PPP2R1B, PRPF40A, METTL3, SRSF2, SRSF5, SRSF6, SNRPB2, RBM10, SRSF11, DDX46, PPP1CA, LOC102724594, BCAS2, SF3A1, CHERP, SF3A3, SF3B2, DDX42, U2AF2, HNRNPK, TRUB1, CSTF3, ELAVL1, XRN2, SNW1, U2SURP, TARDBP, SF3B3, SF3B1, PRPF6, FUS, HNRNPA2B1, HNRNPC, HNRNPF, HNRNPH1, HSPA8, HNRNPM, NONO, GEMIN4, PCBP1, SF3B6, CPSF3, EXOSC10, CPSF2, LUC7L, RBM4, SRSF1, SMN1, SMN2, SNRNP70, SNRPD3, U2AF1, CPSF7, RBM17, HNRNPLL, SNRNP40, RBM39, BZW1, PDCD6IP, SNUPN, ACTR1A, CDK3, STAG1, TUBB3, SEC23B, ARFGEF2, MAGED2, COPS6, CHD3, CHD4, WDR5, PKP3, KTI12, ARAP1, CSK, DCTN1, DDX1, DHX9, DOCK1, DOCK2, MLKL, CTTN, PUF60, ACIN1, WAPAL, XPO6, DNAJC13, SRRM2, GTPBP4, XRCC6, NIPBL, SEC31B, LDLRAP1, KIAA1279, ZNF326, BABAM1, GSPT1, OLA1, PIK3R4, IK, ILK, KPNA1, MLH1, ATM, PAK1, METTL13, CDK12, POLE, ATR, APBB1IP, ATRX, PPP2R1A, KIF27, UBE2Q1, CHD7, PRKAG1, ASUN, EXOC1, CAND1, MAP2K2, MAP2K3, LRRC47, TAOK1, PURA, WIZ, BLM, NCAPG, RBM15, YTHDC2, SRP19, AURKA, TTK, VASP, VRK1, NUP37, SPATA5L1, SHOC2, FIP1L1, DIAPH3, RIOK1, USP48, FYTTD1, RAE1, COPS3, API5, AP3B1, FUBP1, CPNE3, OTULIN, BCL7C, TRIP12, GNA14, AQR, CDK1, TOX4, G3BP2, NUP153, PSMC3, ACTB, SMC4, DNM1L, TUBB, ACTR2, RAD50, TRAP1, TUBA4A, PSMC6, DDX39A, PAK4, TUBB4B, NDC80, DCTN2, CCT7, CCT4, CCT2, EXOC5, KHDRBS1, CCT8, NUDC, SEPT9, TUBGCP2, RUVBL2, SUGT1, EHD1, KIF2C, CHEK1, DDX19B, PSMC1, RBM45, COPA, COPB1, CSE1L, AP1B1, SPATA5, DFNA5, DIAPH1, DYNC1LI2, DNM2, DSP, FASN, LRWD1, FEN1, COPG1, RALY, CCT5, CNOT1, MDN1, EXOC7, SMCHD1, NCAPH, ORC6, ORC3, KIF4A, HSPA12A, INTS1, PHGDH, VPS33B, COPG2, ZNF638, FHOD1, RACGAP1, MSH6, PARVB, HDLBP, HELLS, EHD4, DNAJA1, HSP90AA1, HSP90AB1, HSPD1, ARCN1, KIF11, KPNB1, KPNA2, LIMS1, LMNA, MRE11A, MYH9, NBN, DRG1, NSF, ORC2, ORC4, ORC5, UCHL5, DDX41, GULP1, RTCB, PLEC, PLK1, PNN, POLD1, ANLN, RIF1, FANCI, DDX19A, ABCF3, WDR33, CDKN2AIP, KIF21A, FERMT1, LRRC40, SCYL2, NSUN5, IPO9, ENAH, PARVA, EXOC2, PKN2, UNC45A, PRKDC, MAP2K7, RAD18, SMARCAD1, PSMC2, PSMC4, PSMC5, PSMD1, PSMD2, PSMD3, PSMD11, PSMD12, PSMD13, WDR18, TWF1, SHROOM3, CHD8, RANBP2, RANGAP1, RBBP5, RBBP7, UPF1, RFC2, RFC3, RFC4, RFC5, EXOC4, RPA1, SRSF7, ANAPC1, EPS8L2, FAM129B, INTS3, HLTF, SPTAN1, SPTBN1, SRP54, SRP68, SRP72, TCP1, BUB1, BUB1B, TLN1, TMPO, HSP90B1, CCT3, TUBG1, UBE2N, VIM, AHNAK, DDX39B, CDC73, UBA5, MYO15B, SYMPK, SEH1L, CAPG, SMC1A, UBL4A, ARID1A, CAPZA1, PICALM, EPPK1, NUF2, MAD1L1, CUL1, SMARCA5, RUVBL1, CDC23, IQGAP1, CCNB1, HIP1R, UBE2M, BTAF1, CCT6A, SMC3, ARHGEF1, DEPDC7, ARHGEF2, BUB3, PDLIM7, TRIP13, ROCK2, CHD1L, NUP155, NCAPD2, OXSR1, CDC27, MVP, TUBA1B, EXOC3, SNRPE, DVL3, ELAVL2, C11orf57, SNRPG, KIAA1143, SNRPF, ZC3H18, CD2BP2, EAPP


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for GNAS_SNW1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for GNAS_SNW1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGNASC3494506Pseudohypoparathyroidism, Type Ia13CTD_human;ORPHANET;UNIPROT
HgeneGNASC0242292McCune-Albright Syndrome5ORPHANET;UNIPROT
HgeneGNASC2931404Albright's hereditary osteodystrophy4CTD_human
HgeneGNASC0016065Polyostotic fibrous dysplasia3CTD_human;HPO;ORPHANET
HgeneGNASC0033806Pseudohypoparathyroidism3CTD_human;HPO
HgeneGNASC1857451Acth-Independent Macronodular Adrenal Hyperplasia3ORPHANET;UNIPROT
HgeneGNASC0014130Endocrine System Diseases2CTD_human
HgeneGNASC0034013Precocious Puberty2CTD_human;HPO
HgeneGNASC0221263Cafe-au-Lait Spots2CTD_human
HgeneGNASC0001206Acromegaly1CTD_human;HPO
HgeneGNASC0001624Adrenal Gland Neoplasms1CTD_human
HgeneGNASC0011573Endogenous depression1PSYGENET
HgeneGNASC0019087Hemorrhagic Disorders1CTD_human
HgeneGNASC0020538Hypertensive disease1CTD_human;HPO
HgeneGNASC0021655Insulin Resistance1CTD_human
HgeneGNASC0023897Liver Diseases, Parasitic1CTD_human
HgeneGNASC0027819Neuroblastoma1CTD_human
HgeneGNASC0028754Obesity1CTD_human;HPO
HgeneGNASC0029396Heterotopic Ossification1CTD_human;HPO
HgeneGNASC0032460Polycystic Ovary Syndrome1CTD_human
HgeneGNASC0033835Pseudopseudohypoparathyroidism1CTD_human;ORPHANET
HgeneGNASC0035204Respiration Disorders1CTD_human
HgeneGNASC0036341Schizophrenia1PSYGENET
HgeneGNASC0038587Substance Withdrawal Syndrome1CTD_human
HgeneGNASC0039231Tachycardia1CTD_human
HgeneGNASC0206698Cholangiocarcinoma1CTD_human
HgeneGNASC0221357Brachydactyly1CTD_human;HPO
HgeneGNASC0242184Hypoxia1CTD_human
HgeneGNASC0242216Biliary calculi1CTD_human
HgeneGNASC0334041Osteoma cutis1CTD_human;ORPHANET;UNIPROT
HgeneGNASC0346302Growth Hormone-Secreting Pituitary Adenoma1CTD_human
HgeneGNASC2932715Pseudohypoparathyroidism Type 1B1CTD_human;ORPHANET
HgeneGNASC2932716Pseudohypoparathyroidism Type 1C1ORPHANET;UNIPROT
HgeneGNASC3714756Intellectual Disability1CTD_human;HPO