HP:0002242: Abnormal intestine morphology

Genes 1004

KMT2D SH2B1 RPS7 UBR1 DNAAF1 MITF GTF2IRD1 CAVIN1 SLC9A7 CTRC FRMPD4 SPINK5 APC PGAP2 ARVCF FANCM RPS15A RELA EDN3 RSPH9 NOTCH2 FCN3 RREB1 NAA10 HPGD PMS1 NPHP3 TCF4 POLG SHPK RFX6 PRSS1 HLA-DPA1 PEX11B CFC1 DNAH11 GJB6 POLG STK11 CDC45 GPC1 BUB1B DMD CYP27A1 SNAI2 WAS TJP2 CFAP221 MTTP MCC GJB2 AP1S1 CEP290 TTC7A BRIP1 HSD3B7 SEC24C CDK8 DDX59 BMPR1A PIK3CA B3GALT6 TWNK COL3A1 SATB2 CYBA FANCG FOXF1 HLA-DPB1 WAC KIT CLCN4 ENPP1 AKT1 TNPO3 XRCC4 NIPBL SIN3A FLNB ITGA8 PTRH2 EFEMP2 MYCN IL10RA ECE1 SLC9A3 TRNW CTLA4 ADAMTS3 SOX10 PRKCD SUFU HLA-B COL5A1 CCR6 AHI1 BLM CFAP300 AKR1D1 ADA2 VPS51 COL5A1 PEX19 USB1 MUTYH FAH MSH2 F12 NEK1 LIG4 POLE DNMT3B RPL35 FANCL NDUFB11 CPLX1 FAS FAN1 RFX5 SEMA3D FTSJ1 MYRF PIK3CA ODAD4 CCDC40 SPINT2 SRP54 MSH2 TINF2 CAV1 SDHC MKS1 VANGL1 CFTR FOXE1 CCBE1 AGA KMT2A FANCF MMP21 GDNF ASCL1 GATA6 ND4 RPS19 FLI1 STAT1 MBTPS2 SALL4 BMPR1A L1CAM SOX10 LONP1 L1CAM BTK MSH6 NOTCH3 CXCR4 RSPH1 MEFV CCBE1 RET PALLD SMAD4 SMAD4 SKIV2L STAT1 ISL1 HMBS ALG3 SNAI2 TCOF1 FOXJ1 FANCI NRAS CREBBP PEX6 NOTCH2 CFAP298 SALL4 PORCN CEP57 FGFR1 RAD21 PIGV SMAD7 CLMP DOK7 FGF8 SBDS RET RERE FLNA TCTN3 PTPN22 DACT1 SLC6A8 TTC7A TRNS2 CDON EDNRB FGF20 C1R MMEL1 RASGRP1 FANCA DMP1 TTC12 RPS19 IL12A-AS1 KLLN PPP1R12A TYMP CDKN1B GAS1 TGFB1 CCN2 MAP3K7 HYLS1 NPM1 GAS2L2 CTLA4 IL12A CNKSR2 PTPRJ APC IRF5 SAR1B GDNF DSE USP9X DHODH RPGR NSUN2 JAK3 PDGFRA FERMT1 DNAJC21 MSH2 DNAL1 NCF4 MPI MYCN RHBDF2 DDX59 TGFB1 MKS1 EXOC6B RPS26 EWSR1 SLC39A4 FLNA SMO RNF43 MNX1 RPGRIP1L FBN2 ASCL1 APC SLC29A3 BAX ABCB1 PEX10 MSH3 JAK1 RET PGM3 DNAJB13 JMJD1C TP53 BUB1 PALB2 TRNK SDHC ZEB2 EDN3 TMEM237 TBX1 ZAP70 ATRX NCF4 COX4I2 ODAD2 PEX12 HCCS B2M ENG DNAI1 MCM6 MDM2 MADD CEP104 FANCC AXIN2 LIMK1 MED12 AMACR PIGL HMGA2 ZBTB24 PCSK1 APC NCF1 EP300 IL2RB NRTN CDKN2A SAA1 EP300 PMS1 RPS10 PLCG2 BRCA2 POLG TTC37 PIGO LTBP4 ACOX2 IGLL1 SLC6A19 ODAD3 PERCC1 SYP BRCA2 PTCH1 HNRNPK EDNRB IGHM PDGFRB FASLG SOX10 MUSK EPCAM APC TMEM216 CISD2 GDF2 BUB1B CYBB RAD54B MLH1 EDN3 SLC6A8 PLG AURKA GPIHBP1 FLCN TYMP COX3 CD3G COG8 PIGV USF3 ACVRL1 CYBB MTTP SERPING1 LPIN2 NTHL1 SETBP1 ITGA6 STRA6 FANCB STAT3 CPLANE1 GLI2 SLX4 DNMT3B RECQL4 SLC2A2 RPL31 MYO1H LEMD3 HMBS GABRD SEMA4A TRMT5 PALB2 ASXL1 NEK10 CCDC22 DMPK DCC RPL5 MKS1 RPS27 PTCH1 TFAP2A RPS24 RPL35A UFD1 ARL13B AHI1 UBE2T SRP54 MEFV RTEL1 DNAAF2 KDM3B SF3B4 ACTG2 EIF2AK3 ABCB4 ARL6 PEX12 BDNF AP1S1 MYOD1 HNRNPK PIGY SALL1 HELLS IDS ZEB2 PIGO POLE SMC1A EYA1 RNF43 PIBF1 SETD2 ERCC4 SIX3 OCRL DZIP1L NEUROG3 CENPF PAX3 PDGFRL SMC3 POU2AF1 ARPC1B GATA1 POLG RAPSN TSR2 HLA-DRB1 PHOX2B DLC1 CEP41 BMPR1A HDAC8 MLH3 CHD7 POLR1C EFL1 TERC BUB3 RAD51C RBM10 MASP2 TRIP13 CC2D2A BMPR1A FGFR2 AIRE PARN HSD3B7 RFWD3 DNAAF6 OPLAH SDHD WFS1 GDNF NHP2 NOD2 ERGIC1 COMT ZMYND10 BLNK PLA2G4A KRAS MSH6 EDNRB KAT6A ARX SDHB COL5A2 TP53 WT1 LIPA SDHC RPS6KA3 SMAD4 KDM6A SALL1 SERPING1 SEMA3C EDN3 TMEM67 PIGN MYLK DNAH1 POLD1 UBR1 NODAL ND6 PIEZO1 IRGM ALG13 LRRC56 COL1A1 DHCR7 AGTR2 MPI FREM1 ZNF711 F13B INSR BMPR1A LBR BBS1 SDHD ASXL1 ARID1B KIT FGFR1 ARL3 RET RRM2B SETD5 CDKN2A SHH JAK3 PIK3C2A CFTR AMACR GATA1 CTBP1 MYO5B CEP120 MCIDAS ARX PTEN MYC FGFR2 TP53 CTNNB1 BCOR RAD51C SUFU DLL1 RAB39B PEX13 B3GLCT TGFBR2 CLIP2 CYBC1 ELN RET ALDH18A1 GDNF HIRA GP1BB DRC1 TP53 DIS3L2 IRF5 ARMC9 MEN1 ZMPSTE24 COX1 CEP41 CSPP1 CCNQ PTF1A ELN MYD88 SPAG1 BUB1 PORCN PHOX2B PMS2 FOXP3 SOX10 RPL27 SEC23B POLG CBL POLA1 PKHD1 MITF AXIN2 EDN3 PPOX MIR17HG TCF3 GDI1 RPL11 GREM1 CHEK2 PTCHD1 STXBP2 CREBBP STK36 DOCK8 STK11 PEX2 TTC37 DACT1 SMAD4 EDNRB POLR1D TDGF1 KRAS GLA AP1B1 PHOX2B LRRC6 RPL15 INPP5E FANCD2 FAT4 MLH3 CHST14 CIITA KIT BACH2 DNAJC21 MUTYH PEX26 IL12RB1 CCNO IL21 HYDIN IL2RA KIT CTC1 TSPAN7 C12ORF65 BAAT PRTN3 KIT FRAS1 LIG4 MYCN TRNS1 TRNH AAGAB TTC7A INPP5E KATNIP SALL4 SI SKIV2L ZAP70 MNX1 ZNF81 BRCA1 RPS6KA3 SLC7A7 FGFRL1 RARB RMRP GATA6 ND1 ADAMTS3 LIPA PEX3 CASP10 PAK3 ZEB2 C4A RPL18 TRNQ KIAA0586 LBR SBDS DNAI2 LMOD1 CYP7B1 PDGFRA PEX1 CHRM3 NUP88 TRNE TLR2 SERPING1 TNFAIP3 ELN PTCH2 DNAH9 MSH2 ASXL1 DHCR7 F5 KITLG SDHB AMER1 NCF2 MKKS PIK3CA FOXP3 PKD1 CEP57 TNFSF15 AKT1 ZFPM2 APC SDHA TRNF WNT2B CEP120 XIAP MLH1 ODC1 PIGW ACSL4 ACTG2 FOXH1 KLHL7 MID2 LRRC8A RPL26 RMRP PTEN PTPN12 TBCE TCF4 MLH3 FBLN5 DISP1 TCTN2 MSH6 ACTA2 PEX14 GAS8 PEX16 DGAT1 NIPBL HABP2 RPS28 RAC2 SLCO2A1 SDHB C12ORF65 DNAAF3 CLMP LRP2 ZIC2 SRP54 PLVAP DYRK1A RPS20 RAD21 COL14A1 CDKN2C MED12 AXIN2 CCDC47 CPOX IL1RAPL1 RPS17 ITCH APC2 KIF7 ITGB4 ENG ZNF423 LCT SPIB TP63 NSD1 SPEF2 IL6 CREBBP TMEM237 HYOU1 TMEM231 TBX1 EPCAM JAK2 MECP2 ATP8B1 PGAP3 PRSS2 TBL2 IL10 MLH1 AKR1D1 ABL1 FANCE WIPF1 NCF2 GUCY2C MTOR RFC2 PSTPIP1 NPHP3 PNLIP NSD2 SALL4 CCDC103 OFD1 DNAAF5 GATA6 IL12A EDNRB LMNA EPCAM SOX10 EDN3 BRCA1 STAG2 EP300 SRCAP CDKN2B DCTN4 CLCA4 SIX1 FCGR2A MST1 TGIF1 DNAH5 MBTPS2 SEMA3E TCTN1 SRSF2 SLC18A3 ZNF41 ALG8 CD79A PIK3R1 HNRNPU NOP10 POLD1 CCND1 STEEP1 PLG COG6 CD79B MKKS ECE1 INAVA PRDM16 SAR1B IVNS1ABP DYNC2H1 IL23R COX2 SPINK1 APC TEK SMO USP27X SPINK5 RTEL1 CYBA MYH11 GPC3 SMAD4 KIFBP EPHX1 TGFBR2 RERE IL10RB FLNA PLA2G2A TCF4 MAD2L2 SKI TMEM237 SNAI2 PIK3CA ABCB11 CDCA7 SLC46A1 TEK RTTN FOXF1 CHST14 SDHC SLC5A1 TLR4 NCF1 RSPH3 COX7B CYBC1 PMS2 GNAS SRCAP TMPRSS6 TET2 FGFR3 WAS SEC23B WRAP53 FAS PAX3 HPS1 ATP7A PTEN SH3KBP1 RFXAP CARMIL2 BCOR CCDC28B KRAS GTF2I TNFRSF1A STAT4 PTEN FBLN5 TERT RUNX1 FAT4 LRP2 RIPK1 TWNK EP300 SETD5 DNAAF4 CCR1 MINPP1 UBAC2 WNT4 ITGB2 EFL1 TMEM138 PHOX2B BMPR1A RBM8A FAS NLRC4 UPF3B SLC10A2 RAD51 ANTXR2 TGFB1 HCFC1 NPHP1 XRCC2 CBLIF RECQL4 GREB1L ERAP1 FARSB PACS1 TRNL1 RET ODAD1 CTC1 PEX5 SRC SDHB PHOX2B KEAP1 NME8 LETM1 STX1A FLCN ELANE STAT5B RFWD3 APC ND5 APC MBTPS2 CCDC39 CFTR B9D1 WHCR GPC4 DLG3 MLH1 RFXANK KLRC4 DICER1 EP300 PRKAR1A F13A1 MLXIPL PIGN STX3 IQSEC2 CTNNB1 RET AK2 CD55 HLA-DRB1 MVK DKC1 RPS29 ACTG2 LRBA GPR35 MYO5B BAZ1B MED12 RSPH4A CDKN1A CCDC65 KIFBP ARHGEF6 DHCR24 WASHC5 ERCC2 AKT1 KCNAB2 EDNRB ADAM17 HLA-B TRNL1 UBE3B

Protein Mutations 1

C10D

SNP 8

rs1217414 rs12760457 rs1310182 rs2097432 rs2476601 rs2488457 rs33996649 rs3789604

HP:0002037: Inflammation of the large intestine

Genes 64

ARPC1B RFX5 FERMT1 NCF4 IRGM PLCG2 SKIV2L F13B FOXP3 ZAP70 ELANE MST1 POLA1 WAS RFXANK XIAP MASP2 FAS FASLG F13A1 HPS1 RFXAP CARMIL2 IL10RA STXBP2 RET SLC9A3 COG6 FCN3 RASGRP1 ABCB1 RTEL1 INAVA OPLAH JAK1 CASP10 HLA-DRB1 IVNS1ABP STAT1 PRKCD IL6 HLA-B TCF4 TTC37 LRBA RIPK1 MAP3K7 GPR35 GPIHBP1 ZAP70 NOD2 WIPF1 WAS CIITA CYBC1 PSTPIP1 NLRC4 BACH2 TNFAIP3 IL10RB SKIV2L IL21 FAS TGFB1

Protein Mutations 1

R139C

SNP 9

rs1217414 rs12760457 rs1310182 rs2097432 rs2476601 rs2488457 rs33996649 rs3789604 rs9557195