Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 9820
Gene Symbol: CUL7
CUL7 		cullin 7 0.633 0.500 2.6E-21
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease 0.100 None 1.000 1 3 2019 2019
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		transcription factor AP-2 alpha 0.488 0.769 0.99
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		contactin associated protein 1 0.554 0.577 3.4E-05
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1 		obscurin like cytoskeletal adaptor 1 0.686 0.308 1.0E-25
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease 0.100 None 1.000 1 2 2019 2019
Entrez Id: 89953
Gene Symbol: KLC4
KLC4 		kinesin light chain 4 0.743 0.308 1.2E-03
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease 0.100 None 1.000 1 2 2019 2019
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94 		transmembrane protein 94 0.628 0.654 2.8E-14
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease 0.100 None 0 2
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease 0.100 None 0 1
Entrez Id: 57728
Gene Symbol: WDR19
WDR19 		WD repeat domain 19 0.554 0.769 4.6E-11
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease 0.100 None 0 1
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease 0.100 None 0 1
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 0.579 0.731 1.5E-15
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease 0.100 None 0 1
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease 0.100 None 0 2
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		H3.3 histone A 0.559 0.692 0.12
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease 0.100 None 0 1
Entrez Id: 283635
Gene Symbol: FAM177A1
FAM177A1 		family with sequence similarity 177 member A1 0.769 0.231 1.2E-03
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease 0.100 None 0 1
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		EBF transcription factor 3 0.595 0.731 1.00
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease 0.100 None 0 1
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease 0.100 None 0 1
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		SATB homeobox 2 0.503 0.769 1.00
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease 0.100 None 0 1
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease 0.100 None 0 4
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease 0.100 None 0 1