CHD:Genes
From CHDWiki
[edit] Introduction
show[edit] Genes currently associated to CHDs
[edit] Genes having non syndromic CHDs
- ACTC - 1 association(s)
- ACVR1 - 1 association(s)
- ACVR2B - 6 association(s)
- ALDH1A2 - 1 association(s)
- ANKRD1 - 1 association(s)
- CFC1/CRYPTIC - 8 association(s)
- CITED2 - 2 association(s)
- CRELD1 - 2 association(s)
- ELN - 11 association(s)
- FOG2/ZFPM2 - 3 association(s)
- FOXH1 - 2 association(s)
- GATA4 - 6 association(s)
- GATA6 - 6 association(s)
- GDF1 - 5 association(s)
- GJA1 - 2 association(s)
- HAND2 - 1 association(s)
- HEY2 - 1 association(s)
- IRX4 - 1 association(s)
- JAG1 - 10 association(s)
- LEFTY2 - 7 association(s)
- MAP3K7IP2 - 1 association(s)
- MYH11 - 2 association(s)
- MYH6 - 5 association(s)
- MYH7 - 2 association(s)
- NKX2-5/NKX2.5 - 11 association(s)
- NKX2-6 - 1 association(s)
- NODAL - 13 association(s)
- NOTCH1 - 4 association(s)
- PDGFRA - 1 association(s)
- TBX1 - 4 association(s)
- TBX20 - 3 association(s)
- TDGF1 - 2 association(s)
- TFAP2B - 5 association(s)
- THRAP2 - 1 association(s)
- VEGF - 1 association(s)
- ZIC3 - 12 association(s)
[edit] Genes having syndromic CHDs
- ATRX - 1 association(s)
- BCOR - 7 association(s)
- BRAF - 4 association(s)
- CBP/CREBBP - 4 association(s)
- CFC1/CRYPTIC - 8 association(s)
- CHD7 - 8 association(s)
- COL2A1 - 1 association(s)
- CSDE1/NRAS - 2 association(s)
- EHMT1 - 1 association(s)
- ELN - 11 association(s)
- EVC - 1 association(s)
- EVC2 - 5 association(s)
- FBN1 - 3 association(s)
- FLNA - 5 association(s)
- FOXC1 - 3 association(s)
- FOXL2 - 1 association(s)
- G6PC3 - 2 association(s)
- GJA1 - 2 association(s)
- GPC3 - 6 association(s)
- HOXA1 - 2 association(s)
- HRAS - 3 association(s)
- JAG1 - 10 association(s)
- KRAS - 3 association(s)
- LBR - 1 association(s)
- MAP2K1/MEK1 - 4 association(s)
- MAP2K2/MEK2 - 3 association(s)
- MGP - 1 association(s)
- MID1 - 4 association(s)
- MLL2 - 4 association(s)
- NF1 - 2 association(s)
- NOTCH2 - 3 association(s)
- NPHP3 - 3 association(s)
- NSD1 - 4 association(s)
- PTPN11 - 7 association(s)
- RAF1 - 2 association(s)
- RAI1 - 1 association(s)
- RBM10 - 1 association(s)
- ROR2 - 1 association(s)
- SALL4 - 3 association(s)
- SH3PXD2B - 3 association(s)
- SHOC2 - 4 association(s)
- SIP1/ZEB2/ZFHX1B - 5 association(s)
- SLC2A10 - 1 association(s)
- SOS1 - 5 association(s)
- STRA6 - 1 association(s)
- TBX1 - 4 association(s)
- TBX3 - 2 association(s)
- TBX5 - 9 association(s)
- TFAP2B - 5 association(s)
[edit] Both syndromic & non syndromic genes
- ACTC - 1 association(s)
- ACVR1 - 1 association(s)
- ACVR2B - 6 association(s)
- ALDH1A2 - 1 association(s)
- ANKRD1 - 1 association(s)
- ATRX - 1 association(s)
- BCOR - 7 association(s)
- BRAF - 4 association(s)
- CBP/CREBBP - 4 association(s)
- CFC1/CRYPTIC - 8 association(s)
- CHD7 - 8 association(s)
- CITED2 - 2 association(s)
- COL2A1 - 1 association(s)
- CRELD1 - 2 association(s)
- CSDE1/NRAS - 2 association(s)
- EHMT1 - 1 association(s)
- ELN - 11 association(s)
- EVC - 1 association(s)
- EVC2 - 5 association(s)
- FBN1 - 3 association(s)
- FLNA - 5 association(s)
- FOG2/ZFPM2 - 3 association(s)
- FOXC1 - 3 association(s)
- FOXH1 - 2 association(s)
- FOXL2 - 1 association(s)
- G6PC3 - 2 association(s)
- GATA4 - 6 association(s)
- GATA6 - 6 association(s)
- GDF1 - 5 association(s)
- GJA1 - 2 association(s)
- GPC3 - 6 association(s)
- HAND2 - 1 association(s)
- HEY2 - 1 association(s)
- HOXA1 - 2 association(s)
- HRAS - 3 association(s)
- IRX4 - 1 association(s)
- JAG1 - 10 association(s)
- KRAS - 3 association(s)
- LBR - 1 association(s)
- LEFTY2 - 7 association(s)
- MAP2K1/MEK1 - 4 association(s)
- MAP2K2/MEK2 - 3 association(s)
- MAP3K7IP2 - 1 association(s)
- MGP - 1 association(s)
- MID1 - 4 association(s)
- MLL2 - 4 association(s)
- MYH11 - 2 association(s)
- MYH6 - 5 association(s)
- MYH7 - 2 association(s)
- NF1 - 2 association(s)
- NKX2-5/NKX2.5 - 11 association(s)
- NKX2-6 - 1 association(s)
- NODAL - 13 association(s)
- NOTCH1 - 4 association(s)
- NOTCH2 - 3 association(s)
- NPHP3 - 3 association(s)
- NSD1 - 4 association(s)
- PDGFRA - 1 association(s)
- PTPN11 - 7 association(s)
- RAF1 - 2 association(s)
- RAI1 - 1 association(s)
- RBM10 - 1 association(s)
- ROR2 - 1 association(s)
- SALL4 - 3 association(s)
- SH3PXD2B - 3 association(s)
- SHOC2 - 4 association(s)
- SIP1/ZEB2/ZFHX1B - 5 association(s)
- SLC2A10 - 1 association(s)
- SOS1 - 5 association(s)
- STRA6 - 1 association(s)
- TBX1 - 4 association(s)
- TBX20 - 3 association(s)
- TBX3 - 2 association(s)
- TBX5 - 9 association(s)
- TDGF1 - 2 association(s)
- TFAP2B - 5 association(s)
- THRAP2 - 1 association(s)
- VEGF - 1 association(s)
- ZIC3 - 12 association(s)
[edit] Candidate genes
Note: A gene is considered as a CHD candidate gene, when it has a dedicated page but is not already associated to any heart defect.
[edit] Predicted candidate genes
Note: Four prioritization tools have been used to predict novel CHD candidate genes (Endeavour, GeneDistiller, Pinta, and Candid) (Capdevila et al., 2012). In this section, the genes are ordered by their final rank. Already known genes and candidates (from the above sections) have been removed.
- BMPR1A (1)
- MYBPC3 (3)
- SCN5A (4)
- LMNA (5)
- TGFBR2 (6)
- TGFBR1 (7)
- FGFR1 (9)
- NOTCH3 (10)
- TGFB1 (11)
- TNNT2 (14)
- CASQ2 (16)
- PDGFRB (17)
- CTNNB1 (18)
- PTEN (19)
- COL1A1 (21)
- HNF1A (22)
- LAMC1 (24)
- FGFR2 (26)
- GLI3 (27)
- ACTA1 (29)
- TNNC1 (30)
- PSEN1 (31)
- MITF (32)
- CSRP3 (33)
- AKT2 (34)
- ACVRL1 (35)
- DES (36)
- GJA5 (37)
- HSPG2 (38)
- KIT (39)
- ACVR2A (40)
- ITGB1 (41)
- MYL2 (43)
- TGFB2 (44)
- ACVR1B (45)
- EFEMP2 (46)
- TNNI3 (47)
- FHL2 (48)
- MYL7 (49)
- ACTN2 (50)
- PAX3 (51)
- EGFR (52)
- HOXB1 (53)
- SP1 (54)
- FLT4 (55)
- ILK (56)
- NOS3 (57)
- NPPA (59)
- TTN (60)
- TFAP2A (61)
- KDR (63)
- TP53 (64)
- SHH (65)
- LMX1B (67)
- MET (68)
- MYOZ2 (69)
- RELA (71)
- GLI2 (72)
- GTF2I (73)
- MYH10 (74)
- MYL3 (75)
- INHBA (76)
- NRP1 (77)
- FBLN1 (78)
- PDGFC (79)
- GTF2IRD1 (80)
- CAV3 (81)
- DLL1 (82)
- LTBP1 (83)
- MYC (84)
- RET (85)
- ITGB3 (86)
- MMP2 (87)
- FGFR3 (88)
- CDX2 (89)
- CRIP2 (90)
- ERBB2 (91)
- SMAD3 (92)
- RB1 (93)
- ABL1 (94)
- IGF1R (95)
- TNFRSF1A (96)
- SLC25A4 (97)
- BMP2 (98)
- FLNC (99)
- NFKB1 (100)
- TEK (101)
- NID2 (102)
- NRP2 (103)
- SMAD4 (104)
- ACTB (105)
- FOXO1 (106)
- INHBC (107)
- GDNF (108)
- SMAD2 (109)
- ITGB4 (111)
- CAV1 (112)
- FABP3 (113)
- ENG (115)
- THBS1 (116)
- MYH9 (117)
- EPHB2 (118)
- PRKACA (119)
- FN1 (120)
- INSR (121)
- IRS1 (122)
- GLB1 (123)
- PPARG (124)
- NKX2-1 (125)
- TGFB3 (127)
- VDR (128)
- EDNRA (129)
- HSPB1 (130)
- F2R (131)
- PLAT (132)
- GDF5 (133)
- TBX2 (134)
- FLT1 (135)
- PSEN2 (136)
- THBS4 (137)
- INPP5D (138)
- JUN (139)
- APC (140)
- ITGAV (141)
- SGCA (142)
- RYR2 (143)
- SOX2 (144)
- BMP7 (145)
- ACAN (146)
- TNFRSF11A (147)
- HIF1A (148)
- PTP4A3 (149)
- CRYAB (150)
- LAMA2 (151)
- GDF11 (152)
- HSPB8 (153)
- HNF4A (155)
- GATA2 (156)
- PDX1 (157)
- FLI1 (158)
- AR (159)
- YY1 (160)
- TFAP2C (162)
- TCAP (163)
- WNT11 (164)
- MECOM (165)
- THRB (166)
- MAPK14 (167)
- LEFTY1 (168)
- ATP2A2 (169)
- SRF (170)
- STAT3 (171)
- CDK4 (173)
- BMP10 (174)
- COL1A2 (175)
- TGIF1 (176)
- TPM1 (178)
- TEAD1 (180)
- E2F1 (182)
- RARB (183)
- APAF1 (184)
- TNR (185)
- MSX1 (186)
- BMP6 (187)
- ESR2 (188)
- EGR1 (189)
- TCF3 (190)
- RARG (191)
- EPHB4 (192)
- PTK2 (194)
- LAMA5 (195)
- PRRX1 (196)
- LHX3 (197)
- IKBKB (198)
- BMPR2 (199)
- MYOM1 (200)
