Details of Disease

General Information of Disease (ID: DISNR7MS)

• Disease Name: Rhabdomyosarcoma
• Synonyms: rhabdomyosarcoma, malignant; rhabdomyosarcoma (disease); rhabdomyosarcoma
• Disease Class: 2B55: Rhabdomyosarcoma
• Definition: A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites.
• Disease Hierarchy:
  DISSN8XB: Soft tissue sarcoma
  DISNR7MS: Rhabdomyosarcoma
• ICD Code:
  ICD-11: ICD-11: 2B55
  ICD-9: ICD-9: 171
  Expand ICD-11: 'XH0GA1
  Expand ICD-9: 171
• Disease Identifiers:
  MONDO ID: MONDO_0005212
  MESH ID: D012208
  UMLS CUI: C0035412
  MedGen ID: 20561
  HPO ID: HP:0002859
  Orphanet ID: 780
  SNOMED CT ID: 302847003

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Gilotrifafatinib	DM4JZIM	Phase 2	NA	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 64 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CDKN2A	TTFTWQ8	Limited	Genetic Variation	[2]
DICER1	TTTEOPU	Limited	Genetic Variation	[3]
FGFR4	TT1KX2S	Limited	Genetic Variation	[4]
HRAS	TT28ZON	Limited	Genetic Variation	[5]
TDP1	TT64IHJ	Limited	Altered Expression	[6]
ALPI	TTHYMUV	moderate	Biomarker	[7]
ARRB1	TTMVD4A	moderate	Biomarker	[8]
CA5A	TT75WPO	moderate	Biomarker	[9]
CARM1	TTIZQFJ	moderate	Biomarker	[10]
CDKN1C	TTBSUAR	Moderate	Autosomal dominant	[11]
CNR1	TT6OEDT	moderate	Biomarker	[12]
DMD	TTWLFXU	moderate	Biomarker	[13]
DYRK1B	TTYGQ8A	moderate	Altered Expression	[14]
EML4	TT92GY4	moderate	Altered Expression	[15]
ENOX2	TTUJZRL	moderate	Biomarker	[16]
EPHB2	TTKPV6O	moderate	Altered Expression	[17]
FABP2	TTS4YLO	moderate	Biomarker	[18]
FCGRT	TTKLPHO	moderate	Biomarker	[19]
GLI1	TTJOMH6	moderate	Altered Expression	[20]
HRAS	TT28ZON	Moderate	Autosomal dominant	[11]
IGFBP6	TTLAYV8	moderate	Biomarker	[21]
LTK	TT1JZG6	moderate	Genetic Variation	[22]
MAP3K10	TT9FN4J	moderate	Altered Expression	[23]
MLH1	TTISG27	Moderate	Autosomal recessive	[11]
MSH2	TTCAWRT	Moderate	Autosomal recessive	[11]
NR4A1	TTMXE2Q	moderate	Biomarker	[24]
PDGFC	TTOABM9	moderate	Biomarker	[25]
PDPK1	TTYMGWX	moderate	Altered Expression	[26]
PKN1	TTSL41O	moderate	Genetic Variation	[27]
PRKCI	TTWJTHX	moderate	Altered Expression	[28]
RBPJ	TT72D4Z	moderate	Biomarker	[29]
RHD	TTLCKI8	moderate	Altered Expression	[30]
RPE65	TTBOH16	moderate	Biomarker	[31]
RPS6KA2	TT0ZW9O	moderate	Biomarker	[32]
SGCA	TTS9Q5V	moderate	Biomarker	[13]
SPRY1	TT0PSN6	moderate	Biomarker	[33]
SRMS	TT7YMXZ	moderate	Biomarker	[34]
ST8SIA4	TTDP8YM	moderate	Altered Expression	[35]
TNFRSF13C	TT7NJSE	moderate	Altered Expression	[36]
YES1	TT0SQ8J	moderate	Biomarker	[37]
ANGPT2	TTKLQTJ	Strong	Biomarker	[38]
BAGE	TTS5GLJ	Strong	Altered Expression	[39]
BIRC2	TTQ5LRD	Strong	Altered Expression	[40]
BRD1	TTT09OB	Strong	Biomarker	[41]
CDKN2C	TTBRUGA	Strong	Biomarker	[42]
DLK1	TTF4AVB	Strong	Genetic Variation	[43]
DMPK	TTZQTY2	Strong	Altered Expression	[44]
EPHA3	TTHS2LR	Strong	Biomarker	[45]
EZR	TTE47YC	Strong	Altered Expression	[46]
F2RL2	TTVSEBF	Strong	Biomarker	[47]
GPC3	TTJTSX4	Strong	Altered Expression	[48]
IGF2	TTE8WGO	Strong	Biomarker	[49]
ITGA2	TTSJ542	Strong	Biomarker	[50]
KAT2B	TTVK7SB	Strong	Biomarker	[10]
MRM2	TTUQ7WN	Strong	Altered Expression	[51]
MSTN	TTM8I2X	Strong	Altered Expression	[52]
NES	TTHZ752	Strong	Altered Expression	[53]
NRAS	TTW2R9X	Strong	Genetic Variation	[54]
ORAI1	TTE76YK	Strong	Altered Expression	[55]
TRPM5	TT1N8F3	Strong	Genetic Variation	[56]
UCHL3	TT23UD6	Strong	Altered Expression	[6]
UTS2	TTERU0T	Strong	Biomarker	[57]
WEE1	TTJFOAL	Strong	Biomarker	[58]
ALK	TTPMQSO	Definitive	Genetic Variation	[59]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ATP2B1	DTJWQ1L	Strong	Altered Expression	[60]

This Disease Is Related to 135 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CEP164	OTLNRPAR	Limited	Biomarker	[61]
NCOA1	OTLIUJQD	Limited	Genetic Variation	[62]
NCOA2	OTMQFPBB	Limited	Genetic Variation	[63]
NUTM1	OTONYC08	Limited	Biomarker	[64]
PGP	OT6QQ7OR	Limited	Altered Expression	[65]
RBBP7	OTLB56HX	Limited	Altered Expression	[66]
SLC22A18	OT9C3KR4	Limited	Genetic Variation	[67]
ACTL6A	OT0EC5BQ	moderate	Biomarker	[68]
ANKRD2	OT4UYZ71	moderate	Biomarker	[69]
AP2A1	OTEFZB21	moderate	Biomarker	[8]
AP2B1	OTL6LZJ4	moderate	Biomarker	[70]
ARHGEF25	OT7162TD	moderate	Posttranslational Modification	[71]
ARPC5	OTFNMMDL	moderate	Biomarker	[8]
BFSP2	OT3QREFR	moderate	Biomarker	[72]
BMF	OT90NSLI	moderate	Biomarker	[73]
BUB1B	OT8KME51	Moderate	Autosomal recessive	[11]
CAV2	OT1FGRQX	moderate	Biomarker	[9]
CAV3	OTWSFDB4	moderate	Biomarker	[74]
CAVIN1	OTFO915U	moderate	Biomarker	[75]
CAVIN4	OTB1DM2C	moderate	Biomarker	[74]
CDH15	OTJ1TO02	moderate	Genetic Variation	[76]
CDKN1C	OTASTJ3Q	Moderate	Autosomal dominant	[11]
CHRNG	OTXC2UR7	moderate	Altered Expression	[77]
CIITA	OTRJNZFO	moderate	Biomarker	[78]
CLTC	OTBFASMA	moderate	Biomarker	[8]
CLTCL1	OT6W5BNR	moderate	Biomarker	[8]
DEPDC1B	OTMVFOT1	moderate	Altered Expression	[30]
DES	OTI09KBW	moderate	Biomarker	[79]
EFS	OT06O7XL	moderate	Genetic Variation	[80]
ETV4	OT8C98UZ	moderate	Biomarker	[81]
FEM1A	OT0BGJQS	moderate	Altered Expression	[82]
FEV	OTYEC4IR	moderate	Biomarker	[81]
FNDC5	OT5CSK9X	moderate	Biomarker	[19]
FOXF2	OTV20NGX	moderate	Altered Expression	[83]
GOLPH3L	OTT2K3LQ	moderate	Biomarker	[84]
HES6	OTWO5SCF	moderate	Altered Expression	[85]
HNRNPH1	OTFRWOLM	moderate	Biomarker	[86]
HOXB6	OT3TFQ0U	moderate	Biomarker	[32]
HRAS	OTWQN0DP	Moderate	Autosomal dominant	[11]
HRG	OTPLUFOG	moderate	Biomarker	[87]
INSM1	OTG8RV8E	moderate	Altered Expression	[88]
KIDINS220	OTLBH2MA	moderate	Biomarker	[89]
LARGE1	OTUH7H9F	moderate	Altered Expression	[13]
LUC7L3	OTKDED8A	moderate	Biomarker	[90]
MAML1	OTQA4DDN	moderate	Altered Expression	[91]
MAP2K4	OTZPZX11	moderate	Altered Expression	[92]
MEF2C	OTZGF1Y5	moderate	Biomarker	[93]
MEF2D	OT7CEIG0	moderate	Biomarker	[94]
MLH1	OTG5XDD8	Moderate	Autosomal recessive	[11]
MPST	OTCDPH5D	moderate	Altered Expression	[23]
MSH2	OT10H1AB	Moderate	Autosomal recessive	[11]
MSH6	OT46FP09	Moderate	Autosomal recessive	[11]
MSTO1	OT37XCNP	moderate	Altered Expression	[23]
MTMR11	OTHL2O08	moderate	Biomarker	[90]
MYF5	OTTVO2S5	moderate	Biomarker	[95]
NACA	OTLP1KR3	moderate	Altered Expression	[96]
NBN	OT73B5MD	Moderate	Autosomal recessive	[11]
OLFM1	OTOYPEWW	moderate	Biomarker	[19]
OLIG2	OTMCN6D3	moderate	Altered Expression	[97]
P4HTM	OTKELL7F	moderate	Posttranslational Modification	[98]
PANX1	OTXPEDOK	moderate	Biomarker	[99]
PAX7	OTDMQRPO	moderate	Biomarker	[100]
PAX9	OT25J0F7	moderate	Biomarker	[16]
PCDHA4	OTJH4515	moderate	Biomarker	[101]
PHOX2B	OT3SFR2O	moderate	Biomarker	[102]
PLIN5	OTV8G50L	moderate	Altered Expression	[103]
PMS2	OTNLWTMI	Moderate	Autosomal recessive	[104]
POU4F1	OTMHYGWQ	moderate	Altered Expression	[105]
PPP1R12A	OT4AVU95	moderate	Biomarker	[106]
PTCH2	OTOQ0K9V	moderate	Genetic Variation	[107]
PTMA	OT2W4T1M	moderate	Altered Expression	[108]
RGN	OTD04KB1	moderate	Biomarker	[109]
RGS5	OTUY0Q2I	moderate	Biomarker	[110]
RITA1	OTUH8IPS	moderate	Biomarker	[20]
SMYD1	OTPAH75C	moderate	Biomarker	[111]
SPRY4	OT2VK9N0	moderate	Altered Expression	[112]
SS18	OTDKHN1E	moderate	Biomarker	[81]
SSX1	OTZ7NRCY	moderate	Biomarker	[81]
SSX2	OT2Z6RLL	moderate	Biomarker	[81]
ST8SIA2	OTRBBBD8	moderate	Biomarker	[35]
SUFU	OT0IRYG1	moderate	Biomarker	[113]
SYNJ1	OTTE02XC	moderate	Biomarker	[8]
TANC1	OTF6TZ8E	moderate	Altered Expression	[114]
TFAP2B	OTR1T8E9	moderate	Biomarker	[70]
TFCP2	OTA246TE	moderate	Biomarker	[59]
TFE3	OTM99ZWH	moderate	Biomarker	[115]
TIMM10	OT99QR7R	moderate	Biomarker	[108]
TNNT1	OT8PBOAR	moderate	Biomarker	[19]
AADAC	OT8VACT2	Strong	Altered Expression	[116]
ANKRD1	OTHJ7JV9	Strong	Altered Expression	[117]
CA8	OT9Y8GA8	Strong	Altered Expression	[117]
CCDC88A	OT3SSYYC	Strong	Altered Expression	[118]
CCN3	OTOW5YL4	Strong	Genetic Variation	[119]
CETN1	OTGQ8JOZ	Strong	Altered Expression	[120]
CIC	OTFXCHNZ	Strong	Biomarker	[121]
CMTR1	OTG0N8GA	Strong	Genetic Variation	[56]
COIL	OTP4I4DL	Strong	Altered Expression	[122]
CRKL	OTOYSD1R	Strong	Biomarker	[123]
EIF3K	OTGTKVGO	Strong	Biomarker	[124]
ETV7	OTIAADPA	Strong	Altered Expression	[125]
EWSR1	OT7SRHV3	Strong	Genetic Variation	[126]
FBXW4	OTEGSZOX	Strong	Altered Expression	[116]
FHL2	OT0OAYWT	Strong	Altered Expression	[127]
FOXF1	OT2CJZ5K	Strong	Altered Expression	[83]
FOXS1	OTPM9TZ5	Strong	Biomarker	[128]
GPC5	OT8NR7GC	Strong	Biomarker	[129]
HMGXB3	OTTZ1AS6	Strong	Biomarker	[130]
JARID2	OT14UM8H	Strong	Altered Expression	[131]
KIF22	OTY6X6BL	Strong	Biomarker	[132]
LMO4	OT5NDCT9	Strong	Biomarker	[133]
MB	OTYWYL2D	Strong	Biomarker	[134]
MIB1	OT5C404P	Strong	Biomarker	[135]
MINDY3	OT6YZPWC	Strong	Altered Expression	[117]
MYF6	OTLLMHMI	Strong	Altered Expression	[60]
MYL1	OTDUYR4U	Strong	Biomarker	[131]
NHS	OTKE8QAT	Strong	Biomarker	[136]
OBP2A	OTBIJ5TI	Strong	Biomarker	[132]
PACC1	OTKBS8CC	Strong	Biomarker	[137]
PARD3	OTH5BPLO	Strong	Biomarker	[47]
PHB2	OTCAX3AW	Strong	Biomarker	[138]
PPRC1	OT6GB3WR	Strong	Altered Expression	[139]
PRSS57	OTR6GDQM	Strong	Biomarker	[45]
PVALB	OTZW1WVQ	Strong	Altered Expression	[120]
RAG2	OTG9UYTW	Strong	Altered Expression	[35]
RASGRF1	OTNWJ7EN	Strong	Genetic Variation	[71]
SDF4	OTQ7WFYW	Strong	Altered Expression	[120]
SLFN11	OTJWFPMY	Strong	Altered Expression	[140]
SNRPF	OTZE5W6G	Strong	Biomarker	[130]
SP3	OTYDQZ1T	Strong	Altered Expression	[141]
STIM1	OT8CLQ1W	Strong	Altered Expression	[142]
TBC1D9	OTSSCTB5	Strong	Biomarker	[143]
TBP	OT6C0S52	Strong	Biomarker	[144]
TBX2	OTTOT7A9	Strong	Biomarker	[145]
PTCH1	OTMG07H5	Definitive	Genetic Variation	[146]
SIX1	OT70YYWM	Definitive	Biomarker	[147]

References

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