Craniosynostosis

Disease Term Disease ID Gene Symbol Classification References Source
CRANIOSYNOSTOSIS
C0010278MONDO:0015469
MSX2 Unknown — Disgenet
NELL1 Unknown — Disgenet
NOG Unknown — Disgenet
NPR2 Unknown — Disgenet
PRRX1 Unknown
37154149
CTD Disgenet
PTCH1 Unknown — Disgenet
RUNX2 Unknown — Disgenet
SMAD6 Unknown — Disgenet
SOX11 Unknown — Disgenet
SPECC1L Unknown — Disgenet
SPRY1 Unknown
36543535
GWAS catalog
TCF12 Unknown — Disgenet
TCF20 Unknown — Disgenet
TFAP2B Unknown — Disgenet
TGFBR1 Unknown — Disgenet
TRPS1 Unknown — Disgenet
TWIST1 Unknown — Disgenet
WDR19 Unknown — Disgenet
WDR35 Unknown — Disgenet
ZIC1 Unknown — Disgenet
ZNF462 Unknown — Disgenet
CRANIOSYNOSTOSIS 1
123100
TWIST1 Unknown — HPO
CRANIOSYNOSTOSIS 2
604757MONDO:0011481
MSX2 Causal — ClinGen ClinVar GenCC HPO
CRANIOSYNOSTOSIS 3
615314C3715051
TCF12 Unknown — Disgenet HPO
CRANIOSYNOSTOSIS 4
600775C3806917MONDO:0010929
ERF Unknown
23354439 35852485
ClinGen ClinVar Disgenet GWAS catalog HPO
CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO
MONDO:0014232
ALX4 Unknown — ClinVar
CRANIOSYNOSTOSIS 6
616602C4225269MONDO:0014705
ZIC1 Causal
26340333
ClinGen ClinVar Disgenet GWAS catalog HPO
CRANIOSYNOSTOSIS 7
C4479496MONDO:0044315
SMAD6 Causal
22275001 27606499 28659821 30796334 30848080 30963242 31138930 32499606
ClinVar Disgenet GenCC
BMP2 Unknown — Disgenet
CRANIOSYNOSTOSIS AND DENTAL ANOMALIES
614188C3280073MONDO:0013615OMIM:614188
IL11RA Causal
24498618
CTD ClinGen ClinVar Disgenet GWAS catalog HPO
CRANIOSYNOSTOSIS RADIAL APLASIA SYNDROME
MESH:C536788
RECQL4 Unknown — CTD
CRANIOSYNOSTOSIS WITH ECTOPIA LENTIS
C1863678
ADAMTSL4 Causal — Disgenet
CRANIOSYNOSTOSIS, BOSTON TYPE
1541
MSX2 Unknown
23918290 23949913
Orphanet
CRANIOSYNOSTOSIS, MICRORETROGNATHIA, SEVERE INTELLECTUAL DISABILITY SYNDROME
C5780021
PPP3CA Unknown — Disgenet
CRANIOSYNOSTOSIS, TYPE 1
C4551902
ERF Unknown — Disgenet
KAT6B Unknown — Disgenet
TWIST1 Unknown — Disgenet
CRANIOSYNOSTOSIS, TYPE 2
C1858160MESH:C565753
MSX2 Unknown — CTD Disgenet
CRANIOSYNOSTOSIS-DENTAL ANOMALIES
284149
IL11RA Unknown
21741611
Orphanet
CRANIOSYNOSTOSIS-FACIAL DYSMORPHISM-CHIARI-1 MALFORMATION-DEVELOPMENTAL AND LANGUAGE DELAY SYNDROME
647681C5816752
ERF Unknown
36209295
Disgenet Orphanet
CRANIOSYNOSTOSIS-MICRORETROGNATHIA-SEVERE INTELLECTUAL DISABILITY SYNDROME
565858
PPP3CA Unknown
28942967 29432562 30254215 30455226
Orphanet
SAGITTAL CRANIOSYNOSTOSIS
C0432123
MYH7 Unknown — Disgenet