ClinGen Curated Genes Summaries

1842 Curated Genes

Clinicalvalidity off
Gene-Disease Validity
Clinicalactionability off
Clinical Actionability
Dosagesensitivity off
Dosage Sensitivity
Gene Clinical Validity Classifications Evidence-Based Summary Haploinsufficiency Score Triplosensitivity Score
A2ML1 Curated
A4GALT Associated with Autosomal Recessive Phenotype No Evidence
AAGAB Sufficient Evidence No Evidence
AARS Curated No Evidence No Evidence
AARS2 Associated with Autosomal Recessive Phenotype
AASS Curated Associated with Autosomal Recessive Phenotype
ABAT Associated with Autosomal Recessive Phenotype
ABCC8 Associated with Autosomal Recessive Phenotype No Evidence
ABCD1 Curated Curated Sufficient Evidence No Evidence
ABCG5 Curated Associated with Autosomal Recessive Phenotype
ABCG8 Curated Associated with Autosomal Recessive Phenotype No Evidence
ABHD12 Curated Associated with Autosomal Recessive Phenotype No Evidence
ABR No Evidence No Evidence
ACAD8 Curated Associated with Autosomal Recessive Phenotype No Evidence
ACAD9 Curated
ACADL Curated
ACADM Curated Associated with Autosomal Recessive Phenotype No Evidence
ACADS Curated
ACADSB Curated Associated with Autosomal Recessive Phenotype
ACADVL Curated Curated Associated with Autosomal Recessive Phenotype No Evidence
ACAT1 Curated
ACD Minimal Evidence No Evidence
ACOX1 Associated with Autosomal Recessive Phenotype No Evidence
ACP5 Associated with Autosomal Recessive Phenotype No Evidence
ACSF3 Associated with Autosomal Recessive Phenotype No Evidence
ACSL4 Curated Sufficient Evidence No Evidence
ACTA1 Curated
ACTA2 Curated Curated No Evidence No Evidence
ACTB No Evidence No Evidence
ACTC1 Curated Curated Minimal Evidence No Evidence
ACTG1 Curated
ACTN2 Curated
ACVRL1 Curated Curated Sufficient Evidence No Evidence
ADA2 Associated with Autosomal Recessive Phenotype
ADAM9 Associated with Autosomal Recessive Phenotype No Evidence
ADAMTS2 Associated with Autosomal Recessive Phenotype No Evidence
ADAMTS13 Curated Associated with Autosomal Recessive Phenotype
ADAMTS17 Associated with Autosomal Recessive Phenotype No Evidence
ADAMTS18 Associated with Autosomal Recessive Phenotype No Evidence
ADAMTSL2 Associated with Autosomal Recessive Phenotype No Evidence
ADAR Curated
ADCY1 Curated
ADGRG1 Associated with Autosomal Recessive Phenotype No Evidence
ADGRV1 Curated
ADNP Curated Sufficient Evidence No Evidence
ADSL Associated with Autosomal Recessive Phenotype No Evidence
AFF2 Curated Sufficient Evidence No Evidence
AGA Associated with Autosomal Recessive Phenotype
AGK Associated with Autosomal Recessive Phenotype No Evidence
AGPAT2 Associated with Autosomal Recessive Phenotype No Evidence
AGPS Curated
AGRN Associated with Autosomal Recessive Phenotype No Evidence
AGT Associated with Autosomal Recessive Phenotype No Evidence
AGTR2 No Evidence No Evidence
AGXT Associated with Autosomal Recessive Phenotype
AHCY Curated Associated with Autosomal Recessive Phenotype No Evidence
AHDC1 Sufficient Evidence No Evidence
AHI1 Associated with Autosomal Recessive Phenotype No Evidence
AICDA Associated with Autosomal Recessive Phenotype
AIFM1 Curated
AIMP1 Associated with Autosomal Recessive Phenotype No Evidence
AKAP9 Curated
AKT2 No Evidence No Evidence
AKT3 Minimal Evidence No Evidence
ALAD Associated with Autosomal Recessive Phenotype
ALDH1A3 Associated with Autosomal Recessive Phenotype No Evidence
ALDH3A2 Associated with Autosomal Recessive Phenotype
ALDH4A1 Curated Associated with Autosomal Recessive Phenotype No Evidence
ALDH5A1 Associated with Autosomal Recessive Phenotype No Evidence
ALDH6A1 Curated
ALDH7A1 Curated Curated
ALDOA Associated with Autosomal Recessive Phenotype
ALDOB Curated
ALG1 Associated with Autosomal Recessive Phenotype
ALG2 Associated with Autosomal Recessive Phenotype
ALG6 Associated with Autosomal Recessive Phenotype
ALG8 Curated
ALG9 Curated
ALG12 Associated with Autosomal Recessive Phenotype No Evidence
ALG13 Curated
ALK Curated No Evidence No Evidence
ALMS1 Curated Associated with Autosomal Recessive Phenotype No Evidence
ALPK3 Curated
ALPL Curated
ALS2 Associated with Autosomal Recessive Phenotype No Evidence
ALX4 Sufficient Evidence No Evidence
AMH Associated with Autosomal Recessive Phenotype
AMN Associated with Autosomal Recessive Phenotype No Evidence
AMT Curated
ANGPTL3 Associated with Autosomal Recessive Phenotype
ANK2 Curated Sufficient Evidence No Evidence
ANKRD1 Curated
ANKRD11 Curated Sufficient Evidence No Evidence
ANKRD26 Curated
ANKS6 Associated with Autosomal Recessive Phenotype
ANO5 Curated
ANO6 Curated
ANOS1 Sufficient Evidence No Evidence
ANTXR2 Associated with Autosomal Recessive Phenotype No Evidence
AP1S2 Curated Sufficient Evidence No Evidence
AP3B1 Curated
AP3D1 Curated
AP4B1 Associated with Autosomal Recessive Phenotype No Evidence
AP4S1 Associated with Autosomal Recessive Phenotype No Evidence
APC Curated Curated Sufficient Evidence No Evidence
APOB Curated Curated Sufficient Evidence No Evidence
APOC2 Associated with Autosomal Recessive Phenotype
APP No Evidence Moderate Evidence
AQP5 Curated
AR Sufficient Evidence No Evidence
ARCN1 Some Evidence No Evidence
ARFGEF2 Associated with Autosomal Recessive Phenotype No Evidence
ARG1 Curated Associated with Autosomal Recessive Phenotype No Evidence
ARHGAP31 No Evidence No Evidence
ARHGEF4 No Evidence No Evidence
ARHGEF6 Curated No Evidence No Evidence
ARHGEF9 Curated Some Evidence No Evidence
ARID1A Sufficient Evidence No Evidence
ARID1B Curated Sufficient Evidence No Evidence
ARID2 Sufficient Evidence No Evidence
ARL2BP Curated
ARL6 Associated with Autosomal Recessive Phenotype No Evidence
ARL6IP1 Associated with Autosomal Recessive Phenotype
ARL13B Curated
ARPC1B Curated
ARSA Associated with Autosomal Recessive Phenotype No Evidence
ARSD No Evidence No Evidence
ARSE Sufficient Evidence No Evidence
ARX Curated Sufficient Evidence No Evidence
ASAH1 Associated with Autosomal Recessive Phenotype No Evidence
ASH1L Sufficient Evidence No Evidence
ASL Curated Associated with Autosomal Recessive Phenotype
ASNS Curated
ASPA Associated with Autosomal Recessive Phenotype No Evidence
ASPH Associated with Autosomal Recessive Phenotype
ASPM Associated with Autosomal Recessive Phenotype No Evidence
ASS1 Curated
ASXL1 Sufficient Evidence No Evidence
ASXL2 No Evidence No Evidence
ASXL3 Sufficient Evidence No Evidence
ATCAY Associated with Autosomal Recessive Phenotype
ATF6 Curated Associated with Autosomal Recessive Phenotype No Evidence
ATM Curated Curated Sufficient Evidence No Evidence
ATP2A1 Associated with Autosomal Recessive Phenotype No Evidence
ATP2C2 No Evidence No Evidence
ATP5MD Curated
ATP6AP2 No Evidence No Evidence
ATP6V1B1 Curated
ATP6V1E1 No Evidence No Evidence
ATP6V0A2 Associated with Autosomal Recessive Phenotype No Evidence
ATP6V0A4 Associated with Autosomal Recessive Phenotype
ATP7A Curated Curated Sufficient Evidence No Evidence
ATP7B Curated Curated Associated with Autosomal Recessive Phenotype No Evidence
ATP8A2 Minimal Evidence No Evidence
ATP10A No Evidence No Evidence
ATP13A2 Associated with Autosomal Recessive Phenotype
ATPAF2 Associated with Autosomal Recessive Phenotype No Evidence
ATRX Curated Sufficient Evidence No Evidence
AUH Curated
AUTS2 Curated Sufficient Evidence No Evidence
AVPR2 Sufficient Evidence No Evidence
AXIN2 Curated Sufficient Evidence No Evidence
B3GALNT2 Associated with Autosomal Recessive Phenotype
B3GALT6 Associated with Autosomal Recessive Phenotype No Evidence
B4GALT1 Associated with Autosomal Recessive Phenotype No Evidence
B4GALT7 Associated with Autosomal Recessive Phenotype No Evidence
B9D1 Associated with Autosomal Recessive Phenotype No Evidence
BAG3 Curated Curated Sufficient Evidence No Evidence
BAP1 Curated Curated Sufficient Evidence No Evidence
BARD1 Curated
BBS5 Associated with Autosomal Recessive Phenotype No Evidence
BBS7 Associated with Autosomal Recessive Phenotype
BBS12 Associated with Autosomal Recessive Phenotype No Evidence
BCAT2 Curated
BCHE Associated with Autosomal Recessive Phenotype
BCKDHA Curated
BCKDHB Curated Associated with Autosomal Recessive Phenotype
BCKDK Curated Associated with Autosomal Recessive Phenotype
BCL2L11 No Evidence No Evidence
BCL11A Curated Sufficient Evidence No Evidence
BCLAF1 Minimal Evidence No Evidence
BCOR Sufficient Evidence No Evidence
BCR No Evidence No Evidence
BCS1L Curated Associated with Autosomal Recessive Phenotype No Evidence
BDP1 Curated
BGN Curated
BIN1 Curated Associated with Autosomal Recessive Phenotype
BLK Curated
BLM Curated Associated with Autosomal Recessive Phenotype
BLNK Associated with Autosomal Recessive Phenotype No Evidence
BMP4 Some Evidence No Evidence
BMPER Associated with Autosomal Recessive Phenotype
BMPR1A Curated Curated Sufficient Evidence No Evidence
BMPR2 Curated Sufficient Evidence No Evidence
BPY2 No Evidence No Evidence
BRAF Curated Curated Minimal Evidence No Evidence
BRAT1 Associated with Autosomal Recessive Phenotype No Evidence
BRCA1 Curated Curated Sufficient Evidence No Evidence
BRCA2 Curated Curated Sufficient Evidence No Evidence
BRIP1 Curated Curated Sufficient Evidence No Evidence
BRWD3 Curated Some Evidence No Evidence
BSND Curated Associated with Autosomal Recessive Phenotype No Evidence
BTD Curated Curated Associated with Autosomal Recessive Phenotype No Evidence
BTK Sufficient Evidence No Evidence
BTRC No Evidence No Evidence
BUB1B Curated
C1QB Curated Associated with Autosomal Recessive Phenotype No Evidence
C8orf37 Associated with Autosomal Recessive Phenotype No Evidence
C15orf41 Associated with Autosomal Recessive Phenotype
C19orf12 Associated with Autosomal Recessive Phenotype No Evidence
CA5A Curated Associated with Autosomal Recessive Phenotype No Evidence
CA8 Associated with Autosomal Recessive Phenotype No Evidence
CA12 Associated with Autosomal Recessive Phenotype
CABP2 Curated
CABP4 Associated with Autosomal Recessive Phenotype No Evidence
CACNA1A Sufficient Evidence No Evidence
CACNA1C Curated Minimal Evidence No Evidence
CACNA1D Curated
CACNA1H Curated
CACNA1S Curated No Evidence No Evidence
CACNA2D1 Curated
CACNB2 Curated
CACNB4 Curated
CADPS2 No Evidence No Evidence
CALR3 Curated
CAMK2A Minimal Evidence No Evidence
CAMK2B Some Evidence No Evidence
CAMTA1 Sufficient Evidence No Evidence
CANT1 Associated with Autosomal Recessive Phenotype
CAPN3 Associated with Autosomal Recessive Phenotype No Evidence
CARD14 No Evidence No Evidence
CASK Curated Sufficient Evidence No Evidence
CASP10 Minimal Evidence No Evidence
CASQ2 Curated Associated with Autosomal Recessive Phenotype
CASR No Evidence No Evidence
CASZ1 Minimal Evidence No Evidence
CATSPER2 Associated with Autosomal Recessive Phenotype No Evidence
CBFB No Evidence No Evidence
CBL Curated No Evidence No Evidence
CBS Curated Curated Associated with Autosomal Recessive Phenotype No Evidence
CC2D1A Curated
CC2D2A Associated with Autosomal Recessive Phenotype No Evidence
CCBE1 Associated with Autosomal Recessive Phenotype
CCDC8 Associated with Autosomal Recessive Phenotype No Evidence
CCDC39 Associated with Autosomal Recessive Phenotype No Evidence
CCDC40 Associated with Autosomal Recessive Phenotype
CCDC50 Curated
CCDC78 Curated
CCDC103 Associated with Autosomal Recessive Phenotype
CCM2 Curated
CCNQ Some Evidence No Evidence
CCT5 Associated with Autosomal Recessive Phenotype No Evidence
CD3D Associated with Autosomal Recessive Phenotype
CD3E Curated Associated with Autosomal Recessive Phenotype No Evidence
CD3G Associated with Autosomal Recessive Phenotype
CD8A Associated with Autosomal Recessive Phenotype No Evidence
CD19 Associated with Autosomal Recessive Phenotype
CD27 Associated with Autosomal Recessive Phenotype
CD36 Associated with Autosomal Recessive Phenotype
CD40LG Sufficient Evidence No Evidence
CD59 Associated with Autosomal Recessive Phenotype
CD164 Curated
CDAN1 Associated with Autosomal Recessive Phenotype No Evidence
CDC14A Curated
CDC42BPB Minimal Evidence No Evidence
CDC73 Curated Curated
CDH1 Curated Curated Sufficient Evidence No Evidence
CDH2 Curated
CDH15 No Evidence No Evidence
CDH23 Curated Associated with Autosomal Recessive Phenotype
CDHR1 Associated with Autosomal Recessive Phenotype
CDK4 Curated
CDK5RAP2 Associated with Autosomal Recessive Phenotype
CDK6 Associated with Autosomal Recessive Phenotype
CDKL5 Curated Sufficient Evidence No Evidence
CDKN1B Curated
CDKN1C Sufficient Evidence No Evidence
CDKN2A Curated Curated
CDT1 Associated with Autosomal Recessive Phenotype
CDY1 No Evidence No Evidence
CEACAM16 Curated
CEBPA Curated
CEBPE Associated with Autosomal Recessive Phenotype
CEMIP Curated
CENPJ Associated with Autosomal Recessive Phenotype
CENPP No Evidence No Evidence
CEP57 Curated
CEP78 Curated Associated with Autosomal Recessive Phenotype No Evidence
CEP164 Associated with Autosomal Recessive Phenotype No Evidence
CEP290 Associated with Autosomal Recessive Phenotype No Evidence
CERS3 Associated with Autosomal Recessive Phenotype
CFAP53 Associated with Autosomal Recessive Phenotype No Evidence
CFC1 Some Evidence No Evidence
CFD Associated with Autosomal Recessive Phenotype No Evidence
CFL2 Curated Associated with Autosomal Recessive Phenotype
CFTR Associated with Autosomal Recessive Phenotype
CHAMP1 Some Evidence No Evidence
CHAT Associated with Autosomal Recessive Phenotype
CHD1L Curated No Evidence No Evidence
CHD2 Curated Sufficient Evidence No Evidence
CHD7 Curated Sufficient Evidence No Evidence
CHD8 Curated Sufficient Evidence No Evidence
CHEK1 Curated
CHEK2 Curated Curated Sufficient Evidence No Evidence
CHKB Associated with Autosomal Recessive Phenotype No Evidence
CHM Sufficient Evidence No Evidence
CHMP1A Associated with Autosomal Recessive Phenotype No Evidence
CHRDL1 Sufficient Evidence No Evidence
CHRM3 Minimal Evidence No Evidence
CHRNA4 Curated
CHRNA7 No Evidence No Evidence
CHST6 Associated with Autosomal Recessive Phenotype No Evidence
CHSY1 Associated with Autosomal Recessive Phenotype No Evidence
CIB2 Curated
CIC Some Evidence No Evidence
CIDEC Associated with Autosomal Recessive Phenotype No Evidence
CISD2 Curated
CLCF1 Associated with Autosomal Recessive Phenotype
CLCN4 Curated Some Evidence No Evidence
CLCN5 Sufficient Evidence No Evidence
CLCNKA Associated with Autosomal Recessive Phenotype No Evidence
CLCNKB Associated with Autosomal Recessive Phenotype No Evidence
CLDN14 Curated Associated with Autosomal Recessive Phenotype No Evidence
CLIC5 Curated
CLMP Associated with Autosomal Recessive Phenotype No Evidence
CLN3 Associated with Autosomal Recessive Phenotype
CLN8 Curated Associated with Autosomal Recessive Phenotype
CLNK No Evidence No Evidence
CLPP Curated Associated with Autosomal Recessive Phenotype No Evidence
CLRN1 Curated Associated with Autosomal Recessive Phenotype No Evidence
CNGB1 Associated with Autosomal Recessive Phenotype
CNKSR2 Some Evidence No Evidence
CNNM4 Associated with Autosomal Recessive Phenotype
CNOT3 No Evidence No Evidence
CNTN1 Associated with Autosomal Recessive Phenotype
CNTN2 Associated with Autosomal Recessive Phenotype No Evidence
CNTN4 Minimal Evidence No Evidence
CNTN6 Minimal Evidence No Evidence
CNTNAP2 Curated Minimal Evidence No Evidence
COCH Curated
COG1 Associated with Autosomal Recessive Phenotype
COG4 Associated with Autosomal Recessive Phenotype
COG7 Associated with Autosomal Recessive Phenotype No Evidence
COG8 Associated with Autosomal Recessive Phenotype No Evidence
COL1A1 Sufficient Evidence No Evidence
COL1A2 No Evidence No Evidence
COL2A1 Curated Sufficient Evidence No Evidence
COL3A1 Curated Curated Sufficient Evidence No Evidence
COL4A3 Associated with Autosomal Recessive Phenotype No Evidence
COL4A5 Curated Sufficient Evidence No Evidence
COL4A6 Curated
COL5A1 Curated Sufficient Evidence No Evidence
COL5A2 Curated
COL9A1 Curated No Evidence No Evidence
COL9A2 Curated No Evidence No Evidence
COL9A3 Curated
COL11A1 Minimal Evidence No Evidence
COL11A2 Curated
COLEC11 Associated with Autosomal Recessive Phenotype No Evidence
COLQ Associated with Autosomal Recessive Phenotype No Evidence
COQ2 Associated with Autosomal Recessive Phenotype No Evidence
CORO1A Associated with Autosomal Recessive Phenotype No Evidence
COX6B1 Associated with Autosomal Recessive Phenotype No Evidence
COX10 Curated Associated with Autosomal Recessive Phenotype
COX14 Associated with Autosomal Recessive Phenotype No Evidence
COX15 Curated Associated with Autosomal Recessive Phenotype No Evidence
COX20 Associated with Autosomal Recessive Phenotype
CP Curated Associated with Autosomal Recessive Phenotype
CPA4 No Evidence No Evidence
CPA6 No Evidence No Evidence
CPLANE1 Associated with Autosomal Recessive Phenotype No Evidence
CPN1 Associated with Autosomal Recessive Phenotype No Evidence
CPS1 Curated Associated with Autosomal Recessive Phenotype
CPT1A Curated Associated with Autosomal Recessive Phenotype No Evidence
CPT2 Curated
CRADD Associated with Autosomal Recessive Phenotype No Evidence
CREBBP Curated Sufficient Evidence No Evidence
CRHR1 No Evidence No Evidence
CRIPT Associated with Autosomal Recessive Phenotype No Evidence
CRKL Minimal Evidence No Evidence
CRTAP Associated with Autosomal Recessive Phenotype No Evidence
CRYBA1 No Evidence No Evidence
CRYBB2 Minimal Evidence No Evidence
CRYGC No Evidence No Evidence
CRYM Curated
CSF2RB Associated with Autosomal Recessive Phenotype
CSMD1 Minimal Evidence No Evidence
CSPP1 Associated with Autosomal Recessive Phenotype No Evidence
CSRP3 Curated Curated
CSTB Associated with Autosomal Recessive Phenotype No Evidence
CTC1 Associated with Autosomal Recessive Phenotype No Evidence
CTCF Some Evidence No Evidence
CTDP1 Associated with Autosomal Recessive Phenotype
CTF1 Curated
CTH Curated Associated with Autosomal Recessive Phenotype No Evidence
CTNNA1 Curated
CTNNA3 Curated No Evidence No Evidence
CTNNB1 Sufficient Evidence No Evidence
CTNND2 Some Evidence No Evidence
CTNS Curated Associated with Autosomal Recessive Phenotype No Evidence
CTSB No Evidence No Evidence
CUBN Associated with Autosomal Recessive Phenotype No Evidence
CUL3 Some Evidence No Evidence
CUL4B Curated Sufficient Evidence No Evidence
CYB5A Associated with Autosomal Recessive Phenotype No Evidence
CYBB Sufficient Evidence No Evidence
CYLD Curated
CYP4F22 Associated with Autosomal Recessive Phenotype
CYP4V2 Associated with Autosomal Recessive Phenotype
CYP21A2 Curated Associated with Autosomal Recessive Phenotype No Evidence
CYP24A1 Associated with Autosomal Recessive Phenotype
CYP27A1 Associated with Autosomal Recessive Phenotype
D2HGDH Associated with Autosomal Recessive Phenotype
DARS2 Associated with Autosomal Recessive Phenotype No Evidence
DAZ1 No Evidence No Evidence
DBH Associated with Autosomal Recessive Phenotype No Evidence
DBT Curated Associated with Autosomal Recessive Phenotype
DCDC2 Curated
DCHS1 Minimal Evidence No Evidence
DCLRE1C Associated with Autosomal Recessive Phenotype No Evidence
DCX Sufficient Evidence No Evidence
DCXR Associated with Autosomal Recessive Phenotype No Evidence
DDB2 Curated Associated with Autosomal Recessive Phenotype
DDHD1 Associated with Autosomal Recessive Phenotype No Evidence
DDOST Associated with Autosomal Recessive Phenotype No Evidence
DDX3X Curated Sufficient Evidence No Evidence
DDX41 Curated
DEPDC5 Curated
DES Curated Curated
DGKE Associated with Autosomal Recessive Phenotype No Evidence
DGUOK Associated with Autosomal Recessive Phenotype
DHCR7 Curated Curated Associated with Autosomal Recessive Phenotype No Evidence
DHODH Associated with Autosomal Recessive Phenotype No Evidence
DHX57 No Evidence No Evidence
DIABLO Curated
DIAPH1 Curated
DIAPH3 Curated
DICER1 Curated Curated Sufficient Evidence No Evidence
DIP2A Minimal Evidence No Evidence
DIRAS3 No Evidence No Evidence
DIS3L2 Curated
DISC1 No Evidence No Evidence
DISP1 No Evidence No Evidence
DKC1 Minimal Evidence No Evidence
DLD Curated
DLG2 Minimal Evidence No Evidence
DLG3 Curated Some Evidence No Evidence
DLGAP2 No Evidence No Evidence
DLK1 No Evidence No Evidence
DLX1 No Evidence No Evidence
DLX2 No Evidence No Evidence
DLX5 No Evidence No Evidence
DLX6 No Evidence No Evidence
DMD Curated Sufficient Evidence No Evidence
DMGDH Curated
DMP1 Associated with Autosomal Recessive Phenotype
DMRT1 Some Evidence No Evidence
DMRT2 No Evidence No Evidence
DMXL2 Curated No Evidence No Evidence
DNAAF1 Associated with Autosomal Recessive Phenotype No Evidence
DNAH5 Associated with Autosomal Recessive Phenotype No Evidence
DNAH11 Associated with Autosomal Recessive Phenotype No Evidence
DNAI1 Associated with Autosomal Recessive Phenotype No Evidence
DNAI2 Associated with Autosomal Recessive Phenotype No Evidence
DNAJB6 No Evidence No Evidence
DNAJB11 Curated
DNAJC6 Associated with Autosomal Recessive Phenotype No Evidence
DNASE1 No Evidence No Evidence
DNM1 Curated
DNM2 Curated Curated
DNMT1 Curated
DNMT3A Minimal Evidence No Evidence
DOCK7 Associated with Autosomal Recessive Phenotype No Evidence
DOCK8 Associated with Autosomal Recessive Phenotype
DOK7 Associated with Autosomal Recessive Phenotype
DPAGT1 Associated with Autosomal Recessive Phenotype No Evidence
DPM1 Associated with Autosomal Recessive Phenotype No Evidence
DPM3 Associated with Autosomal Recessive Phenotype No Evidence
DPP6 Minimal Evidence No Evidence
DPYD Associated with Autosomal Recessive Phenotype No Evidence
DPYS Associated with Autosomal Recessive Phenotype
DRD5 No Evidence No Evidence
DSC2 Curated Curated Some Evidence No Evidence
DSC3 Associated with Autosomal Recessive Phenotype
DSCAM Sufficient Evidence No Evidence
DSE Associated with Autosomal Recessive Phenotype
DSG2 Curated Curated Minimal Evidence No Evidence
DSG4 Associated with Autosomal Recessive Phenotype No Evidence
DSP Curated Curated Minimal Evidence No Evidence
DSPP Curated No Evidence No Evidence
DTNA Curated
DYM Associated with Autosomal Recessive Phenotype No Evidence
DYNC2H1 Associated with Autosomal Recessive Phenotype
DYRK1A Curated Sufficient Evidence No Evidence
DYSF Curated
EARS2 Curated Associated with Autosomal Recessive Phenotype No Evidence
EBP Sufficient Evidence No Evidence
ECHS1 Curated
EDA Sufficient Evidence No Evidence
EDN3 Curated
EDNRB Curated Sufficient Evidence No Evidence
EEF1A2 Curated
EFEMP2 Curated
EFHC1 Curated
EFNB1 Sufficient Evidence Minimal Evidence
EFTUD2 Sufficient Evidence No Evidence
EGFR Curated
EGR2 Curated No Evidence No Evidence
EHMT1 Curated Sufficient Evidence Minimal Evidence
EIF2AK3 Associated with Autosomal Recessive Phenotype
EIF2B1 Associated with Autosomal Recessive Phenotype
EIF2B3 Associated with Autosomal Recessive Phenotype No Evidence
EIF4A3 Associated with Autosomal Recessive Phenotype No Evidence
ELANE Curated
ELAVL2 Minimal Evidence No Evidence
ELK1 No Evidence No Evidence
ELMOD3 Curated
ELN Sufficient Evidence No Evidence
ELOA3 No Evidence No Evidence
EMD Curated
EMX2 Some Evidence No Evidence
EN2 No Evidence No Evidence
ENG Curated Curated Sufficient Evidence No Evidence
ENO3 Associated with Autosomal Recessive Phenotype
ENPP1 Associated with Autosomal Recessive Phenotype No Evidence
EP300 Sufficient Evidence No Evidence
EPB42 Associated with Autosomal Recessive Phenotype No Evidence
EPCAM Curated Curated Associated with Autosomal Recessive Phenotype No Evidence
EPHX1 Curated
EPM2A Curated Associated with Autosomal Recessive Phenotype No Evidence
EPS8 Curated Associated with Autosomal Recessive Phenotype No Evidence
EPS8L2 Curated
ERCC1 Associated with Autosomal Recessive Phenotype
ERCC2 Curated Associated with Autosomal Recessive Phenotype
ERCC3 Curated
ERCC4 Curated
ERCC5 Curated Associated with Autosomal Recessive Phenotype
ERCC6L2 Associated with Autosomal Recessive Phenotype No Evidence
ERCC8 Associated with Autosomal Recessive Phenotype No Evidence
ERF Some Evidence No Evidence
ERMARD Minimal Evidence No Evidence
ESCO2 Associated with Autosomal Recessive Phenotype
ESPN Curated Associated with Autosomal Recessive Phenotype No Evidence
ESRRB Curated
ETFA Curated
ETFB Curated Associated with Autosomal Recessive Phenotype No Evidence
ETFDH Curated Associated with Autosomal Recessive Phenotype
ETHE1 Curated
ETV6 Curated
EVC2 Associated with Autosomal Recessive Phenotype No Evidence
EVX2 No Evidence No Evidence
EXO1 Curated
EXOSC3 Associated with Autosomal Recessive Phenotype No Evidence
EXPH5 Associated with Autosomal Recessive Phenotype No Evidence
EXT1 Curated Sufficient Evidence No Evidence
EXT2 Curated Sufficient Evidence No Evidence
EYA1 Curated Sufficient Evidence No Evidence
EYA4 Curated Sufficient Evidence No Evidence
EYS Associated with Autosomal Recessive Phenotype
F2 Curated
F5 Curated Curated Associated with Autosomal Recessive Phenotype No Evidence
F7 Curated Associated with Autosomal Recessive Phenotype
F8 Curated Curated Sufficient Evidence No Evidence
F9 Curated Curated Sufficient Evidence No Evidence
F10 Curated Associated with Autosomal Recessive Phenotype
F11 Curated Curated
F12 Curated
F13A1 Curated Associated with Autosomal Recessive Phenotype No Evidence
F13B Curated Associated with Autosomal Recessive Phenotype No Evidence
FA2H Associated with Autosomal Recessive Phenotype
FADD Associated with Autosomal Recessive Phenotype No Evidence
FAH Curated
FAM20C Associated with Autosomal Recessive Phenotype
FAM161A Associated with Autosomal Recessive Phenotype No Evidence
FAN1 Curated Associated with Autosomal Recessive Phenotype No Evidence
FANCA Curated Curated Associated with Autosomal Recessive Phenotype No Evidence
FANCB Sufficient Evidence No Evidence
FANCC Curated Curated Associated with Autosomal Recessive Phenotype No Evidence
FANCD2 Associated with Autosomal Recessive Phenotype
FANCE Curated
FANCF Curated Associated with Autosomal Recessive Phenotype No Evidence
FANCG Curated Curated
FANCI Associated with Autosomal Recessive Phenotype
FANCL Curated
FARS2 Curated Associated with Autosomal Recessive Phenotype No Evidence
FAS Sufficient Evidence No Evidence
FASLG Associated with Autosomal Recessive Phenotype No Evidence
FBN1 Curated Curated Sufficient Evidence No Evidence
FBN2 Curated
FBP1 Associated with Autosomal Recessive Phenotype No Evidence
FBXO7 Associated with Autosomal Recessive Phenotype
FBXW4 No Evidence No Evidence
FBXW11 No Evidence Minimal Evidence
FERMT3 Curated
FGA Curated
FGB Curated
FGD1 Curated Sufficient Evidence No Evidence
FGD4 Curated Associated with Autosomal Recessive Phenotype No Evidence
FGF3 Curated Associated with Autosomal Recessive Phenotype
FGF10 Sufficient Evidence No Evidence
FGF23 Curated
FGFR1 Sufficient Evidence No Evidence
FGFR3 Curated No Evidence No Evidence
FGFRL1 No Evidence No Evidence
FGG Curated
FH Curated Curated
FHIT No Evidence No Evidence
FHL1 Curated
FKBP14 Associated with Autosomal Recessive Phenotype No Evidence
FKRP Curated
FKTN Curated
FLAD1 Curated
FLCN Curated Curated Sufficient Evidence No Evidence
FLG Sufficient Evidence No Evidence
FLNA Curated Sufficient Evidence No Evidence
FLNB No Evidence No Evidence
FLNC Curated Curated
FLVCR2 Associated with Autosomal Recessive Phenotype No Evidence
FMO3 Curated
FMR1 Curated Sufficient Evidence No Evidence
FOLR1 Curated Associated with Autosomal Recessive Phenotype No Evidence
FOXC1 Sufficient Evidence No Evidence
FOXC2 Sufficient Evidence No Evidence
FOXE1 Associated with Autosomal Recessive Phenotype
FOXE3 Curated No Evidence No Evidence
FOXF1 Sufficient Evidence No Evidence
FOXG1 Curated Sufficient Evidence No Evidence
FOXI1 Curated
FOXL2 Sufficient Evidence No Evidence
FOXP1 Curated Sufficient Evidence No Evidence
FOXP2 Curated Minimal Evidence No Evidence
FOXRED1 Curated Associated with Autosomal Recessive Phenotype No Evidence
FREM1 No Evidence No Evidence
FRMD7 Sufficient Evidence No Evidence
FSHB Associated with Autosomal Recessive Phenotype
FTCD Associated with Autosomal Recessive Phenotype No Evidence
FTL No Evidence No Evidence
FTSJ1 Curated Sufficient Evidence No Evidence
FXN Curated Associated with Autosomal Recessive Phenotype No Evidence
FYCO1 Associated with Autosomal Recessive Phenotype No Evidence
FZD4 Sufficient Evidence No Evidence
GAA Curated Curated Associated with Autosomal Recessive Phenotype
GABRA1 Curated Some Evidence No Evidence
GABRB3 Curated No Evidence No Evidence
GABRG2 Curated Minimal Evidence No Evidence
GALC Associated with Autosomal Recessive Phenotype
GALK1 Associated with Autosomal Recessive Phenotype No Evidence
GALNS Curated Associated with Autosomal Recessive Phenotype No Evidence
GALNT3 Associated with Autosomal Recessive Phenotype No Evidence
GALNT12 Curated Minimal Evidence No Evidence
GALR1 No Evidence No Evidence
GALT Associated with Autosomal Recessive Phenotype
GAMT Curated Associated with Autosomal Recessive Phenotype No Evidence
GAN Associated with Autosomal Recessive Phenotype
GANAB Curated
GATA2 Curated Sufficient Evidence No Evidence
GATA3 Curated Sufficient Evidence No Evidence
GATA4 Sufficient Evidence No Evidence
GATA6 Sufficient Evidence No Evidence
GATAD1 Curated Associated with Autosomal Recessive Phenotype
GATAD2B Sufficient Evidence No Evidence
GATM Curated
GBA Curated Curated Associated with Autosomal Recessive Phenotype No Evidence
GBA2 Associated with Autosomal Recessive Phenotype
GBE1 Associated with Autosomal Recessive Phenotype No Evidence
GCDH Curated Curated Associated with Autosomal Recessive Phenotype
GCH1 Curated Sufficient Evidence No Evidence
GCK Curated
GCSH Associated with Autosomal Recessive Phenotype
GDAP1 Curated
GDF2 Curated No Evidence No Evidence
GDF5 Sufficient Evidence No Evidence
GDI1 Curated Some Evidence No Evidence
GEN1 Curated
GFER Associated with Autosomal Recessive Phenotype No Evidence
GFI1B Curated
GFM1 Curated Associated with Autosomal Recessive Phenotype No Evidence
GFM2 Curated
GIGYF2 Some Evidence No Evidence
GIPC3 Curated Associated with Autosomal Recessive Phenotype No Evidence
GJA1 Curated No Evidence No Evidence
GJA5 Minimal Evidence No Evidence
GJA8 Minimal Evidence No Evidence
GJB1 Curated
GJB2 Curated Dosage Sensitivity Unlikely No Evidence
GJB3 Curated
GJB6 Curated No Evidence No Evidence
GK Sufficient Evidence No Evidence
GLA Curated Curated Sufficient Evidence No Evidence
GLB1 Associated with Autosomal Recessive Phenotype No Evidence
GLDC Curated Associated with Autosomal Recessive Phenotype No Evidence
GLI2 Sufficient Evidence No Evidence
GLI3 Sufficient Evidence No Evidence
GLIS3 Associated with Autosomal Recessive Phenotype No Evidence
GLMN Sufficient Evidence No Evidence
GLRB Associated with Autosomal Recessive Phenotype No Evidence
GLUL Curated Associated with Autosomal Recessive Phenotype No Evidence
GMPPA Associated with Autosomal Recessive Phenotype No Evidence
GNAI3 No Evidence No Evidence
GNAO1 Curated
GNAS Sufficient Evidence No Evidence
GNB1 Minimal Evidence No Evidence
GNB4 Curated
GNMT Curated
GNPAT Curated Associated with Autosomal Recessive Phenotype
GNRH1 Associated with Autosomal Recessive Phenotype No Evidence
GNS Associated with Autosomal Recessive Phenotype
GORAB Associated with Autosomal Recessive Phenotype No Evidence
GP1BA Curated
GP1BB Curated Associated with Autosomal Recessive Phenotype
GP6 Curated Associated with Autosomal Recessive Phenotype No Evidence
GP9 Curated
GPC3 Curated Sufficient Evidence No Evidence
GPC5 No Evidence No Evidence
GPC6 Associated with Autosomal Recessive Phenotype No Evidence
GPD1 Associated with Autosomal Recessive Phenotype No Evidence
GPD1L Curated
GPHN Some Evidence No Evidence
GPIHBP1 Associated with Autosomal Recessive Phenotype
GPR148 No Evidence No Evidence
GPR179 Associated with Autosomal Recessive Phenotype No Evidence
GPSM2 Curated Associated with Autosomal Recessive Phenotype No Evidence
GPX4 Associated with Autosomal Recessive Phenotype No Evidence
GRB10 No Evidence No Evidence
GREM1 Curated Curated
GRHL2 Curated
GRHPR Associated with Autosomal Recessive Phenotype No Evidence
GRIA3 Curated Some Evidence No Evidence
GRID1 No Evidence No Evidence
GRIK2 Associated with Autosomal Recessive Phenotype No Evidence
GRIN1 Curated
GRIN2A Curated Minimal Evidence No Evidence
GRIN2B Curated Sufficient Evidence No Evidence
GRIN2D Curated
GRIP1 Associated with Autosomal Recessive Phenotype No Evidence
GRM1 Associated with Autosomal Recessive Phenotype
GRM6 Associated with Autosomal Recessive Phenotype No Evidence
GRXCR1 Curated Associated with Autosomal Recessive Phenotype No Evidence
GRXCR2 Curated
GSDME Curated
GSS Curated
GSTZ1 Curated
GTF2H5 Associated with Autosomal Recessive Phenotype No Evidence
GTF2I No Evidence No Evidence
GTF2IRD1 No Evidence No Evidence
GTF2IRD2 No Evidence No Evidence
GTPBP3 Curated
GUCY2C No Evidence No Evidence
GUSB Associated with Autosomal Recessive Phenotype No Evidence
GYS2 Associated with Autosomal Recessive Phenotype No Evidence
H6PD Associated with Autosomal Recessive Phenotype No Evidence
HAAO Curated
HACD1 Curated
HADH Curated
HADHA Curated
HADHB Curated
HARS Curated
HARS2 Curated
HBA1 Associated with Autosomal Recessive Phenotype No Evidence
HBA2 Associated with Autosomal Recessive Phenotype No Evidence
HCCS Sufficient Evidence No Evidence
HCN4 Curated
HDAC4 Minimal Evidence No Evidence
HDAC8 Curated Sufficient Evidence No Evidence
HEXA Curated
HEXB Associated with Autosomal Recessive Phenotype
HFE Curated Associated with Autosomal Recessive Phenotype No Evidence
HFM1 Associated with Autosomal Recessive Phenotype No Evidence
HGD Curated Curated
HGF Curated Associated with Autosomal Recessive Phenotype
HGSNAT Associated with Autosomal Recessive Phenotype
HIBCH Curated
HIRA No Evidence No Evidence
HIST1H1E Sufficient Evidence No Evidence
HIVEP2 Sufficient Evidence No Evidence
HIVEP3 Minimal Evidence No Evidence
HJV Associated with Autosomal Recessive Phenotype
HLCS Associated with Autosomal Recessive Phenotype No Evidence
HMBS Curated Sufficient Evidence No Evidence
HMGA2 Some Evidence No Evidence
HMGCL Curated
HMGCS2 Curated
HNF1A Curated Curated
HNF1B Curated Sufficient Evidence No Evidence
HNF4A Curated
HNRNPK Curated Sufficient Evidence No Evidence
HNRNPU Some Evidence No Evidence
HOMER2 Curated
HOXA1 Curated
HOXD9 No Evidence No Evidence
HOXD13 Sufficient Evidence No Evidence
HPD Curated
HPGD Associated with Autosomal Recessive Phenotype No Evidence
HPRT1 Curated Sufficient Evidence No Evidence
HPS1 Curated Associated with Autosomal Recessive Phenotype
HPS3 Curated Associated with Autosomal Recessive Phenotype
HPS4 Curated
HPSE2 Associated with Autosomal Recessive Phenotype No Evidence
HRAS Curated No Evidence No Evidence
HSD3B7 Associated with Autosomal Recessive Phenotype No Evidence
HSD17B3 Associated with Autosomal Recessive Phenotype
HSD17B4 Curated Associated with Autosomal Recessive Phenotype No Evidence
HSD17B10 Curated No Evidence No Evidence
HSPG2 Associated with Autosomal Recessive Phenotype No Evidence
HUWE1 Curated No Evidence No Evidence
HYLS1 Associated with Autosomal Recessive Phenotype
IARS2 Curated
IDS Curated Curated Sufficient Evidence No Evidence
IDUA Curated Curated Associated with Autosomal Recessive Phenotype
IFT27 Associated with Autosomal Recessive Phenotype No Evidence
IFT43 Associated with Autosomal Recessive Phenotype
IFT140 Associated with Autosomal Recessive Phenotype
IGF1R Sufficient Evidence No Evidence
IGF2 No Evidence No Evidence
IGF2R No Evidence No Evidence
IGHMBP2 Associated with Autosomal Recessive Phenotype No Evidence
IGLL1 Associated with Autosomal Recessive Phenotype No Evidence
IKBKG Sufficient Evidence No Evidence
IL1RAPL1 Curated Sufficient Evidence No Evidence
IL2RA Associated with Autosomal Recessive Phenotype
IL10RA Associated with Autosomal Recessive Phenotype No Evidence
IL17RA Associated with Autosomal Recessive Phenotype
IL21R Associated with Autosomal Recessive Phenotype No Evidence
ILDR1 Curated
ILK Curated
IMPA1 No Evidence No Evidence
IMPAD1 Associated with Autosomal Recessive Phenotype
INPP5E Associated with Autosomal Recessive Phenotype No Evidence
INS Curated No Evidence No Evidence
IQSEC2 Curated Sufficient Evidence No Evidence
IRAK4 Associated with Autosomal Recessive Phenotype No Evidence
IRF6 Sufficient Evidence No Evidence
ISPD Associated with Autosomal Recessive Phenotype
ITCH Associated with Autosomal Recessive Phenotype
ITGA2B Curated Curated
ITGA3 Associated with Autosomal Recessive Phenotype No Evidence
ITGB2 Associated with Autosomal Recessive Phenotype
ITGB3 Curated Curated No Evidence No Evidence
ITK Curated Associated with Autosomal Recessive Phenotype No Evidence
ITSN1 Minimal Evidence No Evidence
IVD Curated Curated
IYD Associated with Autosomal Recessive Phenotype No Evidence
JAG1 Sufficient Evidence No Evidence
JAM3 Associated with Autosomal Recessive Phenotype No Evidence
JARID2 No Evidence No Evidence
JPH2 Curated
JUP Curated Curated
KANK1 No Evidence No Evidence
KANSL1 Sufficient Evidence No Evidence
KARS Curated Associated with Autosomal Recessive Phenotype No Evidence
KAT6A Sufficient Evidence No Evidence
KAT6B Curated Sufficient Evidence No Evidence
KATNAL2 Minimal Evidence No Evidence
KBTBD13 Curated
KCNA2 Curated
KCNB1 Curated
KCND3 Curated
KCNE1 Curated
KCNE3 Curated
KCNE5 Curated
KCNH2 Curated Curated Sufficient Evidence No Evidence
KCNJ1 Associated with Autosomal Recessive Phenotype No Evidence
KCNJ8 Curated
KCNJ10 Curated
KCNJ11 Curated
KCNK9 No Evidence No Evidence
KCNQ1 Curated Curated Sufficient Evidence No Evidence
KCNQ2 Curated Sufficient Evidence No Evidence
KCNQ4 Curated
KCNT1 Curated
KCNV2 Associated with Autosomal Recessive Phenotype
KCTD7 Curated Associated with Autosomal Recessive Phenotype
KDM5B Minimal Evidence No Evidence
KDM5C Curated Sufficient Evidence No Evidence
KDM6A Sufficient Evidence No Evidence
KDM6B Minimal Evidence No Evidence
KERA Associated with Autosomal Recessive Phenotype
KHDC3L Associated with Autosomal Recessive Phenotype
KIF1A Curated No Evidence No Evidence
KIF1BP Associated with Autosomal Recessive Phenotype
KIF1C Associated with Autosomal Recessive Phenotype No Evidence
KIF7 Associated with Autosomal Recessive Phenotype No Evidence
KIF11 Sufficient Evidence No Evidence
KISS1 Associated with Autosomal Recessive Phenotype
KIT Curated
KITLG Curated
KLF8 No Evidence No Evidence
KLF10 Curated
KLF11 Curated
KLF14 No Evidence No Evidence
KLHL40 Curated
KLHL41 Curated
KMT2A Sufficient Evidence No Evidence
KMT2B Sufficient Evidence No Evidence
KMT2C Sufficient Evidence No Evidence
KMT2D Sufficient Evidence No Evidence
KRAS Curated Curated No Evidence No Evidence
KRIT1 Curated
KYNU Curated
L1CAM Curated Sufficient Evidence No Evidence
L3MBTL1 No Evidence No Evidence
LAMA1 Associated with Autosomal Recessive Phenotype No Evidence
LAMA2 Associated with Autosomal Recessive Phenotype No Evidence
LAMA3 Associated with Autosomal Recessive Phenotype
LAMA4 Curated
LAMB1 Curated
LAMC2 Associated with Autosomal Recessive Phenotype
LAMP2 Curated Sufficient Evidence No Evidence
LARGE1 Associated with Autosomal Recessive Phenotype No Evidence
LARS2 Curated
LBR Curated Associated with Autosomal Recessive Phenotype No Evidence
LBX1 No Evidence No Evidence
LCA5 Associated with Autosomal Recessive Phenotype
LCT Associated with Autosomal Recessive Phenotype No Evidence
LDB3 Curated
LDLR Curated Sufficient Evidence No Evidence
LEMD3 Sufficient Evidence No Evidence
LEPR Associated with Autosomal Recessive Phenotype
LETM1 No Evidence No Evidence
LFNG Associated with Autosomal Recessive Phenotype
LGI1 Curated
LHFPL5 Curated
LHX3 Associated with Autosomal Recessive Phenotype
LHX4 Sufficient Evidence No Evidence
LIG4 Associated with Autosomal Recessive Phenotype No Evidence
LIMK1 No Evidence No Evidence
LINS1 Associated with Autosomal Recessive Phenotype No Evidence
LIPA Associated with Autosomal Recessive Phenotype
LITAF Curated Curated No Evidence No Evidence
LMAN1 Curated Associated with Autosomal Recessive Phenotype
LMBR1 Associated with Autosomal Recessive Phenotype No Evidence
LMNA Curated Curated Some Evidence No Evidence
LMNB1 No Evidence Sufficient Evidence
LMOD3 Curated
LMTK3 Minimal Evidence No Evidence
LMX1B Sufficient Evidence No Evidence
LOX Curated Curated
LOXHD1 Curated Associated with Autosomal Recessive Phenotype No Evidence
LPAR6 Associated with Autosomal Recessive Phenotype
LPIN1 Curated
LPIN2 Associated with Autosomal Recessive Phenotype No Evidence
LRAT Associated with Autosomal Recessive Phenotype
LRBA Associated with Autosomal Recessive Phenotype
LRP2 Associated with Autosomal Recessive Phenotype No Evidence
LRP5 Some Evidence No Evidence
LRPAP1 Associated with Autosomal Recessive Phenotype
LRPPRC Curated Associated with Autosomal Recessive Phenotype No Evidence
LRRC6 Associated with Autosomal Recessive Phenotype
LRRC10 Curated
LRTOMT Curated
LSS No Evidence No Evidence
LYRM7 Associated with Autosomal Recessive Phenotype No Evidence
LYST Curated Associated with Autosomal Recessive Phenotype No Evidence
LZTR1 Curated
MAFB No Evidence No Evidence
MAGEL2 Minimal Evidence No Evidence
MAGI2 Curated
MAGT1 Some Evidence No Evidence
MALT1 Associated with Autosomal Recessive Phenotype No Evidence
MAN1B1 Curated
MAN2B1 Associated with Autosomal Recessive Phenotype No Evidence
MAOA Curated Minimal Evidence No Evidence
MAP2K1 Curated No Evidence No Evidence
MAP2K2 Curated Minimal Evidence No Evidence
MAP3K1 No Evidence No Evidence
MAP3K20 Curated
MAPT No Evidence No Evidence
MARVELD2 Curated Associated with Autosomal Recessive Phenotype No Evidence
MASP2 Associated with Autosomal Recessive Phenotype
MAT1A Curated
MAT2A Curated
MATN3 No Evidence No Evidence
MAX Curated
MBD5 Curated Sufficient Evidence Minimal Evidence
MBTPS2 Curated
MC2R Associated with Autosomal Recessive Phenotype
MCCC1 Curated Associated with Autosomal Recessive Phenotype No Evidence
MCCC2 Curated
MCEE Curated Associated with Autosomal Recessive Phenotype No Evidence
MCFD2 Associated with Autosomal Recessive Phenotype No Evidence
MCM2 Curated
MCPH1 Curated Associated with Autosomal Recessive Phenotype
MECP2 Curated Sufficient Evidence Sufficient Evidence
MED12 Curated No Evidence No Evidence
MED13L Sufficient Evidence Minimal Evidence
MED23 Curated
MEF2C Curated Sufficient Evidence Minimal Evidence
MEFV Curated No Evidence No Evidence
MEGF10 Curated
MEIS2 Some Evidence No Evidence
MEN1 Curated Curated Sufficient Evidence No Evidence
MEST No Evidence No Evidence
MET Curated Curated No Evidence No Evidence
METTL23 Associated with Autosomal Recessive Phenotype No Evidence
MFAP5 Curated
MFHAS1 No Evidence No Evidence
MFN2 No Evidence No Evidence
MFRP Associated with Autosomal Recessive Phenotype No Evidence
MFSD8 Associated with Autosomal Recessive Phenotype No Evidence
MIB1 Curated
MID1 Curated Sufficient Evidence No Evidence
MID2 No Evidence No Evidence
MITF Curated Sufficient Evidence No Evidence
MKKS Associated with Autosomal Recessive Phenotype
MKRN3 No Evidence No Evidence
MKS1 Associated with Autosomal Recessive Phenotype No Evidence
MLC1 Associated with Autosomal Recessive Phenotype
MLH1 Curated Curated Sufficient Evidence No Evidence
MLH3 Curated
MLPH Associated with Autosomal Recessive Phenotype
MLYCD Curated Associated with Autosomal Recessive Phenotype No Evidence
MMAA Curated Associated with Autosomal Recessive Phenotype No Evidence
MMAB Curated Associated with Autosomal Recessive Phenotype No Evidence
MMACHC Curated Associated with Autosomal Recessive Phenotype
MMADHC Curated Associated with Autosomal Recessive Phenotype No Evidence
MNX1 Sufficient Evidence No Evidence
MOCS2 Associated with Autosomal Recessive Phenotype No Evidence
MOV10 No Evidence No Evidence
MPC1L Some Evidence No Evidence
MPDZ Associated with Autosomal Recessive Phenotype No Evidence
MPLKIP Associated with Autosomal Recessive Phenotype
MPZ Curated
MRAS Curated
MRE11 Curated
MRPS34 Curated
MSH2 Curated Curated Sufficient Evidence No Evidence
MSH3 Curated
MSH6 Curated Curated Sufficient Evidence No Evidence
MSRB3 Curated
MSX2 Curated Sufficient Evidence No Evidence
MTAP Minimal Evidence No Evidence
MTFMT Curated Associated with Autosomal Recessive Phenotype No Evidence
MTHFR Curated Associated with Autosomal Recessive Phenotype
MTM1 Curated Sufficient Evidence No Evidence
MTMR2 Curated Associated with Autosomal Recessive Phenotype
MTO1 Associated with Autosomal Recessive Phenotype No Evidence
MTR Associated with Autosomal Recessive Phenotype No Evidence
MTRR Associated with Autosomal Recessive Phenotype No Evidence
MTTP Associated with Autosomal Recessive Phenotype No Evidence
MUT Curated Curated Associated with Autosomal Recessive Phenotype No Evidence
MUTYH Curated Curated Associated with Autosomal Recessive Phenotype No Evidence
MYBPC3 Curated Curated Sufficient Evidence No Evidence
MYCN Sufficient Evidence No Evidence
MYH2 Curated
MYH6 Curated
MYH7 Curated Curated No Evidence No Evidence
MYH9 Curated
MYH10 Minimal Evidence No Evidence
MYH11 Curated Curated No Evidence No Evidence
MYH14 Curated
MYL1 Curated
MYL2 Curated Curated Associated with Autosomal Recessive Phenotype No Evidence
MYL3 Curated Curated No Evidence No Evidence
MYLK Curated Minimal Evidence No Evidence
MYLK2 Curated
MYO1A Curated
MYO1C Curated
MYO1E Associated with Autosomal Recessive Phenotype No Evidence
MYO1F Curated
MYO3A Curated Associated with Autosomal Recessive Phenotype No Evidence
MYO5A Associated with Autosomal Recessive Phenotype No Evidence
MYO5B Associated with Autosomal Recessive Phenotype No Evidence
MYO6 Curated
MYO7A Curated
MYO9A Curated
MYO15A Curated Associated with Autosomal Recessive Phenotype
MYO18B Curated
MYOM1 Curated
MYOZ2 Curated
MYPN Curated
MYT1L Sufficient Evidence No Evidence
NAA15 Some Evidence No Evidence
NAALADL2 No Evidence No Evidence
NADK2 Curated
NAGS Curated
NARS2 Curated
NAT8L Associated with Autosomal Recessive Phenotype No Evidence
NBAS Associated with Autosomal Recessive Phenotype
NBEA Sufficient Evidence No Evidence
NBEAL2 Curated
NBN Curated
NCF1 Associated with Autosomal Recessive Phenotype No Evidence
NCF2 Associated with Autosomal Recessive Phenotype No Evidence
NCF4 Associated with Autosomal Recessive Phenotype
NCKAP1 Sufficient Evidence No Evidence
NDE1 Associated with Autosomal Recessive Phenotype No Evidence
NDN No Evidence No Evidence
NDP Curated Sufficient Evidence No Evidence
NDRG1 Associated with Autosomal Recessive Phenotype
NDUFA1 Curated No Evidence No Evidence
NDUFA2 Curated
NDUFA9 Curated
NDUFA10 Curated Associated with Autosomal Recessive Phenotype No Evidence
NDUFA12 Curated
NDUFAF1 Associated with Autosomal Recessive Phenotype No Evidence
NDUFAF2 Associated with Autosomal Recessive Phenotype No Evidence
NDUFAF4 Curated
NDUFAF5 Associated with Autosomal Recessive Phenotype No Evidence
NDUFB3 Associated with Autosomal Recessive Phenotype
NDUFS1 Curated
NDUFS3 Curated
NDUFS4 Curated Associated with Autosomal Recessive Phenotype
NDUFS6 Associated with Autosomal Recessive Phenotype No Evidence
NDUFS7 Curated Associated with Autosomal Recessive Phenotype No Evidence
NDUFS8 Curated Associated with Autosomal Recessive Phenotype No Evidence
NDUFV1 Curated Associated with Autosomal Recessive Phenotype No Evidence
NDUFV2 Curated Associated with Autosomal Recessive Phenotype No Evidence
NEB Curated
NEBL No Evidence No Evidence
NEDD9 Minimal Evidence No Evidence
NEFL Curated No Evidence No Evidence
NEK1 Associated with Autosomal Recessive Phenotype No Evidence
NELFA No Evidence No Evidence
NEXMIF Curated Sufficient Evidence No Evidence
NEXN Curated
NF1 Curated Curated Sufficient Evidence No Evidence
NF2 Curated Curated Sufficient Evidence No Evidence
NFIA Sufficient Evidence No Evidence
NFKBIZ Curated
NGLY1 Curated Associated with Autosomal Recessive Phenotype No Evidence
NHP2 Curated Associated with Autosomal Recessive Phenotype No Evidence
NHS Curated Sufficient Evidence No Evidence
NIPA1 No Evidence No Evidence
NIPA2 No Evidence No Evidence
NIPBL Curated Sufficient Evidence Minimal Evidence
NKX2-5 Sufficient Evidence No Evidence
NKX3-2 Associated with Autosomal Recessive Phenotype
NLGN1 No Evidence No Evidence
NLGN3 Curated No Evidence No Evidence
NLGN4X Curated
NNAT No Evidence No Evidence
NODAL Minimal Evidence No Evidence
NOTCH1 Curated
NOTCH2 No Evidence No Evidence
NOTCH3 Curated
NPC1 Associated with Autosomal Recessive Phenotype
NPHP1 Associated with Autosomal Recessive Phenotype No Evidence
NPHP4 Associated with Autosomal Recessive Phenotype
NPHS1 Associated with Autosomal Recessive Phenotype No Evidence
NPPA Curated
NPTX2 No Evidence No Evidence
NR2F1 No Evidence No Evidence
NR2F2 No Evidence No Evidence
NR3C2 Sufficient Evidence No Evidence
NR5A1 Sufficient Evidence No Evidence
NRAS Curated Curated
NR0B1 Sufficient Evidence No Evidence
NRG3 No Evidence No Evidence
NRXN1 Curated Sufficient Evidence No Evidence
NSD1 Curated Sufficient Evidence Minimal Evidence
NSD2 No Evidence No Evidence
NSDHL Curated Sufficient Evidence No Evidence
NSUN2 Curated
NTAN1 No Evidence No Evidence
NUBPL Curated
NXF5 Minimal Evidence No Evidence
NYX Sufficient Evidence No Evidence
OAT Curated Associated with Autosomal Recessive Phenotype
OBSCN Curated
OBSL1 Associated with Autosomal Recessive Phenotype No Evidence
OCA2 Associated with Autosomal Recessive Phenotype No Evidence
OCLN Associated with Autosomal Recessive Phenotype
OCRL Curated Sufficient Evidence No Evidence
OFD1 Curated Sufficient Evidence No Evidence
OPHN1 Sufficient Evidence No Evidence
OR5AU1 No Evidence No Evidence
ORAI1 Curated
ORC4 Associated with Autosomal Recessive Phenotype No Evidence
ORC6 Associated with Autosomal Recessive Phenotype
OSBPL2 Curated
OSBPL5 No Evidence No Evidence
OSTM1 Associated with Autosomal Recessive Phenotype No Evidence
OTC Curated Curated Sufficient Evidence No Evidence
OTOA Curated Associated with Autosomal Recessive Phenotype No Evidence
OTOF Curated Associated with Autosomal Recessive Phenotype
OTOG Curated
OTOGL Curated Associated with Autosomal Recessive Phenotype No Evidence
OTUD7A No Evidence No Evidence
OTX2 Sufficient Evidence No Evidence
OXCT1 Associated with Autosomal Recessive Phenotype
P2RX2 Curated
P3H1 Associated with Autosomal Recessive Phenotype No Evidence
PACS1 Curated
PAFAH1B1 Sufficient Evidence No Evidence
PAH Curated Curated Associated with Autosomal Recessive Phenotype No Evidence
PAK2 Minimal Evidence Minimal Evidence
PAK3 Curated Some Evidence No Evidence
PALB2 Curated Curated
PARK7 Associated with Autosomal Recessive Phenotype No Evidence
PAX1 Associated with Autosomal Recessive Phenotype No Evidence
PAX2 Sufficient Evidence No Evidence
PAX3 Curated Sufficient Evidence No Evidence
PAX6 Sufficient Evidence Minimal Evidence
PAX8 Some Evidence No Evidence
PAX9 Sufficient Evidence No Evidence
PBX1 Sufficient Evidence No Evidence
PC Associated with Autosomal Recessive Phenotype
PCARE Associated with Autosomal Recessive Phenotype No Evidence
PCCA Curated Associated with Autosomal Recessive Phenotype No Evidence
PCCB Curated
PCDH9 No Evidence No Evidence
PCDH15 Curated Associated with Autosomal Recessive Phenotype No Evidence
PCDH19 Curated Sufficient Evidence No Evidence
PCSK9 Curated Curated Dosage Sensitivity Unlikely No Evidence
PCYT1A Associated with Autosomal Recessive Phenotype No Evidence
PDCD10 Curated
PDE4D No Evidence No Evidence
PDE6C Associated with Autosomal Recessive Phenotype No Evidence
PDGFRA Curated
PDHA1 Curated Sufficient Evidence No Evidence
PDHX Associated with Autosomal Recessive Phenotype
PDLIM3 Curated
PDP1 Associated with Autosomal Recessive Phenotype
PDSS2 Associated with Autosomal Recessive Phenotype
PDX1 Associated with Autosomal Recessive Phenotype No Evidence
PDZD7 Curated
PEG3 No Evidence No Evidence
PEG10 No Evidence No Evidence
PEPD Associated with Autosomal Recessive Phenotype
PET100 Curated
PET117 Curated
PEX1 Curated Associated with Autosomal Recessive Phenotype
PEX2 Curated
PEX3 Curated Associated with Autosomal Recessive Phenotype No Evidence
PEX5 Curated
PEX6 Curated
PEX7 Curated Associated with Autosomal Recessive Phenotype
PEX10 Curated
PEX11B Curated Associated with Autosomal Recessive Phenotype No Evidence
PEX12 Curated
PEX13 Curated
PEX14 Curated Associated with Autosomal Recessive Phenotype No Evidence
PEX16 Curated Associated with Autosomal Recessive Phenotype No Evidence
PEX19 Curated
PEX26 Curated Associated with Autosomal Recessive Phenotype No Evidence
PGAP3 Associated with Autosomal Recessive Phenotype
PGK1 Sufficient Evidence No Evidence
PGM1 Associated with Autosomal Recessive Phenotype
PGM3 Associated with Autosomal Recessive Phenotype No Evidence
PHC1 Associated with Autosomal Recessive Phenotype No Evidence
PHEX Curated Sufficient Evidence No Evidence
PHF2 Minimal Evidence No Evidence
PHF3 Minimal Evidence No Evidence
PHF6 Curated Sufficient Evidence No Evidence
PHF8 Curated Sufficient Evidence No Evidence
PHF21A Some Evidence No Evidence
PHGDH Curated
PHIP Some Evidence No Evidence
PHKB Associated with Autosomal Recessive Phenotype No Evidence
PHKG2 Associated with Autosomal Recessive Phenotype
PHLDA2 No Evidence No Evidence
PHYH Associated with Autosomal Recessive Phenotype
PIGA Curated Some Evidence No Evidence
PIGN Associated with Autosomal Recessive Phenotype
PIGO Associated with Autosomal Recessive Phenotype No Evidence
PIGW Associated with Autosomal Recessive Phenotype No Evidence
PIK3CA Curated No Evidence No Evidence
PIK3R1 Curated
PIK3R2 No Evidence No Evidence
PINK1 Associated with Autosomal Recessive Phenotype
PIP5K1C Associated with Autosomal Recessive Phenotype
PITPNA No Evidence No Evidence
PITX2 Sufficient Evidence No Evidence
PITX3 No Evidence No Evidence
PJVK Curated
PKD1 Curated Curated Sufficient Evidence No Evidence
PKD2 Curated Curated Sufficient Evidence No Evidence
PKP2 Curated Curated Sufficient Evidence No Evidence
PLA2G4A Curated
PLA2G6 Associated with Autosomal Recessive Phenotype
PLAGL1 No Evidence No Evidence
PLCB1 Curated Associated with Autosomal Recessive Phenotype No Evidence
PLEKHG5 Associated with Autosomal Recessive Phenotype No Evidence
PLG Curated
PLN Curated
PLOD1 Associated with Autosomal Recessive Phenotype
PLOD2 Associated with Autosomal Recessive Phenotype
PLOD3 Associated with Autosomal Recessive Phenotype No Evidence
PLP1 Curated Sufficient Evidence Sufficient Evidence
PMM2 Associated with Autosomal Recessive Phenotype No Evidence
PMP22 Curated Sufficient Evidence No Evidence
PMS1 Curated
PMS2 Curated Curated Sufficient Evidence No Evidence
PNKP Curated
PNP Associated with Autosomal Recessive Phenotype No Evidence
PNPT1 Curated
POGZ Curated Sufficient Evidence No Evidence
POLD1 Curated Curated
POLE Curated Curated Minimal Evidence No Evidence
POLH Curated Associated with Autosomal Recessive Phenotype No Evidence
POLL No Evidence No Evidence
POLR1D Some Evidence No Evidence
POMGNT1 Curated
POMGNT2 Curated
POMP Associated with Autosomal Recessive Phenotype No Evidence
POMT2 Associated with Autosomal Recessive Phenotype
POR Associated with Autosomal Recessive Phenotype
PORCN Curated Sufficient Evidence No Evidence
POU3F4 Curated
POU4F3 Curated
PPIB Associated with Autosomal Recessive Phenotype No Evidence
PPIP5K1 Associated with Autosomal Recessive Phenotype No Evidence
PPP1CB Curated
PPP1R9A No Evidence No Evidence
PPT1 Associated with Autosomal Recessive Phenotype No Evidence
PQBP1 Curated Sufficient Evidence No Evidence
PRCD Associated with Autosomal Recessive Phenotype No Evidence
PRDM6 No Evidence No Evidence
PRDM16 Curated
PREPL Associated with Autosomal Recessive Phenotype No Evidence
PRG4 Associated with Autosomal Recessive Phenotype No Evidence
PRICKLE1 Curated
PRKAG2 Curated Curated No Evidence No Evidence
PRKAR1A Curated Curated
PRKCSH Curated
PRKG1 Curated Curated
PRKN Associated with Autosomal Recessive Phenotype No Evidence
PROC Curated Curated
PRODH2 Curated
PROP1 Associated with Autosomal Recessive Phenotype No Evidence
PROS1 Curated Curated
PRPS1 Curated Sufficient Evidence No Evidence
PRRT2 Curated
PRSS1 Curated No Evidence No Evidence
PSAT1 Curated Associated with Autosomal Recessive Phenotype
PSD3 Curated No Evidence No Evidence
PSEN2 Curated
PSPH Curated Associated with Autosomal Recessive Phenotype No Evidence
PTCD3 Curated
PTCH1 Curated Curated Sufficient Evidence Minimal Evidence
PTCH2 Curated
PTCHD1 Curated Sufficient Evidence No Evidence
PTEN Curated Curated Sufficient Evidence No Evidence
PTHLH Some Evidence Minimal Evidence
PTPN11 Curated Curated Sufficient Evidence No Evidence
PTPRJ Curated
PTPRQ Curated Associated with Autosomal Recessive Phenotype
PTS Curated Associated with Autosomal Recessive Phenotype No Evidence
PURA Curated Sufficient Evidence No Evidence
PXDN Associated with Autosomal Recessive Phenotype No Evidence
PYCR1 Curated Associated with Autosomal Recessive Phenotype
PYGM Curated
PYROXD1 Curated
QDPR Curated Associated with Autosomal Recessive Phenotype
RAB3GAP1 Associated with Autosomal Recessive Phenotype
RAB3GAP2 Associated with Autosomal Recessive Phenotype No Evidence
RAB27A Associated with Autosomal Recessive Phenotype
RAB28 Curated Associated with Autosomal Recessive Phenotype
RAB39B Curated Sufficient Evidence No Evidence
RAD21 Curated No Evidence No Evidence
RAD50 Curated
RAD51C Curated Curated
RAD51D Curated Curated Some Evidence No Evidence
RAF1 Curated Curated No Evidence No Evidence
RAG1 Associated with Autosomal Recessive Phenotype
RAG2 Associated with Autosomal Recessive Phenotype
RAI1 Curated Sufficient Evidence No Evidence
RALGAPB Minimal Evidence No Evidence
RANGRF Curated
RARS2 Associated with Autosomal Recessive Phenotype No Evidence
RASA1 Curated Sufficient Evidence No Evidence
RASA2 Curated
RASGRP2 Curated
RAX Associated with Autosomal Recessive Phenotype
RB1 Curated Curated Sufficient Evidence No Evidence
RB1CC1 Minimal Evidence No Evidence
RBBP8 Associated with Autosomal Recessive Phenotype
RBM8A Curated
RBM20 Curated
RBP3 Associated with Autosomal Recessive Phenotype No Evidence
RCAN1 No Evidence No Evidence
RDX Curated Associated with Autosomal Recessive Phenotype No Evidence
RECQL Curated
RECQL4 Curated
RELN Curated Associated with Autosomal Recessive Phenotype No Evidence
RET Curated Curated Sufficient Evidence No Evidence
RETREG1 Associated with Autosomal Recessive Phenotype No Evidence
RFX6 Associated with Autosomal Recessive Phenotype No Evidence
RHBDF2 Curated
RIMS1 Minimal Evidence No Evidence
RIN2 Associated with Autosomal Recessive Phenotype
RINT1 Curated
RIPK4 Associated with Autosomal Recessive Phenotype No Evidence
RIPOR2 Curated
RIT1 Curated Curated
RMND1 Associated with Autosomal Recessive Phenotype No Evidence
RNASEH2A Associated with Autosomal Recessive Phenotype
RNF43 Curated
RNF135 Some Evidence No Evidence
RNF168 Associated with Autosomal Recessive Phenotype No Evidence
ROBO1 No Evidence No Evidence
ROBO3 Associated with Autosomal Recessive Phenotype No Evidence
ROGDI Associated with Autosomal Recessive Phenotype No Evidence
ROR1 Curated
ROR2 No Evidence No Evidence
RP2 Sufficient Evidence No Evidence
RPE65 Curated Curated
RPGRIP1 Associated with Autosomal Recessive Phenotype No Evidence
RPH3A Minimal Evidence No Evidence
RPL10 Curated No Evidence No Evidence
RPL15 Minimal Evidence No Evidence
RPS6KA3 Curated Sufficient Evidence No Evidence
RPS10 Curated
RPS17 Sufficient Evidence No Evidence
RPS19 Sufficient Evidence No Evidence
RPS20 Curated
RPS24 Curated Sufficient Evidence No Evidence
RPS26 Sufficient Evidence No Evidence
RRAS Curated
RRAS2 Curated
RS1 Sufficient Evidence No Evidence
RSPH1 Associated with Autosomal Recessive Phenotype
RSPH4A Associated with Autosomal Recessive Phenotype
RSPO4 Associated with Autosomal Recessive Phenotype
RTTN Associated with Autosomal Recessive Phenotype
RUNX1 Curated Sufficient Evidence No Evidence
RXFP2 No Evidence No Evidence
RYR1 Curated No Evidence No Evidence
RYR2 Curated Curated No Evidence No Evidence
RYR3 Curated
S1PR2 Curated
SACS Associated with Autosomal Recessive Phenotype No Evidence
SALL1 Sufficient Evidence No Evidence
SALL4 Sufficient Evidence No Evidence
SAMD9 Associated with Autosomal Recessive Phenotype
SARDH Curated
SATB2 Sufficient Evidence No Evidence
SBDS Curated
SBF2 Associated with Autosomal Recessive Phenotype
SCARB2 Curated No Evidence No Evidence
SCARF2 Associated with Autosomal Recessive Phenotype No Evidence
SCN1A Curated Sufficient Evidence No Evidence
SCN1B Curated No Evidence No Evidence
SCN2A Curated Sufficient Evidence No Evidence
SCN2B Curated
SCN3B Curated
SCN4B Curated
SCN5A Curated Curated Some Evidence No Evidence
SCN8A Curated No Evidence No Evidence
SCN9A Curated
SCN10A Curated
SCO2 Curated
SDCCAG8 Associated with Autosomal Recessive Phenotype No Evidence
SDHA Curated Curated
SDHAF1 Curated Associated with Autosomal Recessive Phenotype No Evidence
SDHAF2 Curated Some Evidence No Evidence
SDHB Curated Sufficient Evidence No Evidence
SDHC Curated Sufficient Evidence No Evidence
SDHD Curated Sufficient Evidence No Evidence
SEC23B Associated with Autosomal Recessive Phenotype No Evidence
SEC61B Curated
SEM1 No Evidence No Evidence
SEMA3A Minimal Evidence No Evidence
SEMA4A Curated
SEPSECS Associated with Autosomal Recessive Phenotype
SERAC1 Associated with Autosomal Recessive Phenotype
SERPINA1 Curated Associated with Autosomal Recessive Phenotype No Evidence
SERPINB6 Curated Associated with Autosomal Recessive Phenotype No Evidence
SERPINB7 Associated with Autosomal Recessive Phenotype No Evidence
SERPINB8 Curated
SERPINC1 Curated
SERPINE1 Associated with Autosomal Recessive Phenotype
SERPINF1 Associated with Autosomal Recessive Phenotype
SETBP1 Sufficient Evidence No Evidence
SETD1A Sufficient Evidence No Evidence
SETD2 Some Evidence No Evidence
SETD5 Sufficient Evidence No Evidence
SF3B4 Sufficient Evidence No Evidence
SGCA Curated
SGCB Curated
SGCD Curated
SGCE Sufficient Evidence No Evidence
SGCG Curated Associated with Autosomal Recessive Phenotype No Evidence
SGSH Associated with Autosomal Recessive Phenotype No Evidence
SH2B1 Some Evidence No Evidence
SH2D1A Sufficient Evidence No Evidence
SH3TC2 Associated with Autosomal Recessive Phenotype
SHANK1 Minimal Evidence No Evidence
SHANK2 Curated Some Evidence No Evidence
SHANK3 Curated Sufficient Evidence No Evidence
SHH Sufficient Evidence Minimal Evidence
SHOC2 Curated No Evidence No Evidence
SHOX Sufficient Evidence No Evidence
SHROOM4 Curated No Evidence No Evidence
SI Associated with Autosomal Recessive Phenotype
SIK1 Curated
SIM1 Minimal Evidence No Evidence
SIN3A Sufficient Evidence No Evidence
SIX1 Curated No Evidence No Evidence
SIX3 Sufficient Evidence No Evidence
SIX4 No Evidence No Evidence
SIX5 Curated
SIX6 No Evidence No Evidence
SKI Curated No Evidence No Evidence
SLC1A1 Curated
SLC2A1 Curated Sufficient Evidence No Evidence
SLC2A10 Curated Curated Associated with Autosomal Recessive Phenotype No Evidence
SLC3A1 Curated Associated with Autosomal Recessive Phenotype No Evidence
SLC4A10 Minimal Evidence No Evidence
SLC5A1 Associated with Autosomal Recessive Phenotype
SLC6A1 Sufficient Evidence No Evidence
SLC6A3 Associated with Autosomal Recessive Phenotype
SLC6A4 Curated No Evidence No Evidence
SLC6A8 Curated Sufficient Evidence No Evidence
SLC7A7 Associated with Autosomal Recessive Phenotype
SLC7A9 Curated
SLC9A6 Curated Sufficient Evidence No Evidence
SLC9A9 Curated
SLC12A1 Associated with Autosomal Recessive Phenotype No Evidence
SLC12A3 Associated with Autosomal Recessive Phenotype No Evidence
SLC13A5 Associated with Autosomal Recessive Phenotype No Evidence
SLC16A2 Curated Sufficient Evidence No Evidence
SLC16A12 Minimal Evidence No Evidence
SLC17A5 Associated with Autosomal Recessive Phenotype No Evidence
SLC17A8 Curated Some Evidence No Evidence
SLC19A3 Curated
SLC22A5 Curated
SLC22A18 No Evidence No Evidence
SLC24A1 Associated with Autosomal Recessive Phenotype No Evidence
SLC25A1 Associated with Autosomal Recessive Phenotype
SLC25A4 Curated
SLC25A12 No Evidence No Evidence
SLC25A13 Curated Associated with Autosomal Recessive Phenotype
SLC25A15 Curated
SLC25A19 Curated Associated with Autosomal Recessive Phenotype No Evidence
SLC25A20 Curated
SLC25A22 Curated
SLC25A46 Curated
SLC26A2 Curated
SLC26A4 Curated
SLC26A5 Curated
SLC30A10 Associated with Autosomal Recessive Phenotype No Evidence
SLC34A1 Associated with Autosomal Recessive Phenotype
SLC34A2 Associated with Autosomal Recessive Phenotype No Evidence
SLC35A2 Sufficient Evidence No Evidence
SLC35C1 Associated with Autosomal Recessive Phenotype No Evidence
SLC35D1 Associated with Autosomal Recessive Phenotype No Evidence
SLC36A2 Curated
SLC37A4 Associated with Autosomal Recessive Phenotype No Evidence
SLC38A5 No Evidence No Evidence
SLC38A8 Associated with Autosomal Recessive Phenotype No Evidence
SLC39A4 Curated
SLC44A4 Curated
SLC52A1 Curated
SLC52A2 Curated
SLC52A3 Curated Associated with Autosomal Recessive Phenotype
SLITRK6 Curated
SLMAP Curated
SLURP1 Associated with Autosomal Recessive Phenotype No Evidence
SLX4 Curated
SMAD2 Curated No Evidence No Evidence
SMAD3 Curated Curated Sufficient Evidence No Evidence
SMAD4 Curated Curated Sufficient Evidence No Evidence
SMARCA1 Curated
SMARCA2 No Evidence No Evidence
SMARCA4 Curated Some Evidence No Evidence
SMARCB1 Curated Sufficient Evidence No Evidence
SMARCE1 Curated
SMC1A Curated Sufficient Evidence No Evidence
SMC3 Curated
SMOC1 Associated with Autosomal Recessive Phenotype No Evidence
SMOC2 Associated with Autosomal Recessive Phenotype No Evidence
SMPX Curated
SMS Curated Sufficient Evidence No Evidence
SNAI2 Curated
SNAP29 Associated with Autosomal Recessive Phenotype
SNRPN No Evidence No Evidence
SNTA1 Curated
SNURF Minimal Evidence No Evidence
SOBP Associated with Autosomal Recessive Phenotype No Evidence
SON Sufficient Evidence No Evidence
SOS1 Curated Curated No Evidence No Evidence
SOS2 Curated Curated
SOST Associated with Autosomal Recessive Phenotype No Evidence
SOX2 Sufficient Evidence No Evidence
SOX5 Sufficient Evidence No Evidence
SOX6 No Evidence No Evidence
SOX8 No Evidence No Evidence
SOX9 Curated Sufficient Evidence No Evidence
SOX10 Curated Sufficient Evidence No Evidence
SOX11 Sufficient Evidence No Evidence
SPAST Sufficient Evidence No Evidence
SPATA7 Associated with Autosomal Recessive Phenotype No Evidence
SPEG Curated Associated with Autosomal Recessive Phenotype No Evidence
SPEN Minimal Evidence No Evidence
SPG7 Associated with Autosomal Recessive Phenotype
SPG21 Associated with Autosomal Recessive Phenotype
SPINK1 Some Evidence No Evidence
SPINK5 Associated with Autosomal Recessive Phenotype
SPP2 No Evidence No Evidence
SPRED1 Curated Curated Sufficient Evidence No Evidence
SPTAN1 Curated
SRCAP Minimal Evidence No Evidence
SRD5A2 Associated with Autosomal Recessive Phenotype No Evidence
SRPX2 Curated No Evidence No Evidence
SRY Sufficient Evidence No Evidence
ST3GAL3 Curated
ST3GAL5 Associated with Autosomal Recessive Phenotype No Evidence
ST14 Associated with Autosomal Recessive Phenotype No Evidence
STAC3 Curated
STAT1 No Evidence No Evidence
STIL Associated with Autosomal Recessive Phenotype
STIM1 Curated
STK11 Curated Curated Sufficient Evidence No Evidence
STRC Curated Associated with Autosomal Recessive Phenotype
STS Sufficient Evidence No Evidence