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ENTRY	nt06545
Name	Cornified envelope formation
Category	Pathway view; Cellular process
Pathway	hsa04382 Cornified envelope formation
Disease	H00734 Autosomal recessive congenital ichthyosis H00735 Ichthyosis vulgaris H00737 Peeling skin syndrome H01796 Uncombable hair syndrome
Display	drug-target relation   disease type

N01922        (EVPL+PPL) − KAZN = Desmosome → (EVPL+PPL)PM     PPKS1             DSG1*     ARVD10/CMD1BB             DSG2*     ABOLM             DSG3*     LAH1             DSG4*     ARVD12/NXD             JUP*     EDSFS             PKP1*     ARVD9             PKP2*     PPKS2/ARVD8/DCWHK             DSP* N01923            IVL − TGM1,TGM5 → (IVL+EVPL+PPL)     ARCI1         TGM1*     PSS2         TGM5* N01924    LOR+SPRR,TCHH − TGM3 → (LOR+SPRR,TCHH) − TGM1 → (IVL+LOR+SPRR,TCHH..     VOWNKL LOR*     UHS3 TCHH*     UHS2     TGM3*   N01925    Palmitoyl-CoA − ELOVL1,ELOVL4 → ULCFA − CYP4F22 → omega-OH-ULCFA − FATP4 → omega-OH-ULCFA-CoA     IKSHD     ELOVL1*     ISQMR/SCA34/STGD3     ELOVL4*     ARCI5             CYP4F22*     IPS                     FATP4* N01926    Palmitoyl-CoA − SPT → 3-Dehydrosphingani.. − KDSR → Sphinganine     ALS27/HSAN1A     SPTLC1*↗     HSAN1C     SPTLC2*     EKVP4             KDSR* N01927    omega-OH-ULCFA-CoA.. − CERS3 → omega-OH-Cer − ABHD5+PNPLA1 → Acyl-Cer − UGCG → Acyl-GlcCer     ARCI9     CERS3*     CDS             ABHD5*     ARCI10             PNPLA1* N01928    Acyl-GlcCer(Golgi) − ABCA12 → Acyl-GlcCer(LB)     HI/ARCI4     ABCA12* N01929    Acyl-GlcCer − ALOX12B+ALOXE3+SDR.. → omega-OH-Cer − TGM1 → IVL     ARCI2     ALOX12B*     ARCI3     ALOXE3*     ARCI13     SDR9C7*     GD     GBA1*     SPG46     GBA2*   N01930    Profilaggrin − PP2A+FURIN,PCSK6+A.. → FLG = (KRT1,KRT2+KRT10)     ADLI     ASPRV1*     ARCI11     ST14*     IV/ATOD2         FLG*     PSS6         FLG2*     EHK1/IHCM/PPKS3/EPPK2/AEI2             KRT1*     IBS             KRT2*     EHK2/IHL/IWC/AEI1             KRT10* N01931            FLG − PADI1,PADI3+CASP14.. → AA     UHS1             PADI3*     ARCI12             CASP14*     SPG76             CAPN1* N01932                    His − HAL → UCA     Histidinemia                     HAL*

		Disease name	Disease category
PPKS1	H00717	Striate palmoplantar keratoderma	Congenital malformation
ARVD10/CMD1BB	H00293	Arrhythmogenic right ventricular cardiomyopathy	Cardiovascular disease
	H00294	Dilated cardiomyopathy	Cardiovascular disease
ABOLM	H02648	Acantholytic blistering of the oral and laryngeal mucosa	Digestive system disease
LAH1	H00784	Localized autosomal recessive hypotrichosis	Skin disease
ARVD12/NXD	H00293	Arrhythmogenic right ventricular cardiomyopathy	Cardiovascular disease
	H00669	Naxos disease	Congenital malformation
EDSFS	H00644	Ectodermal dysplasia/skin fragility syndrome	Congenital malformation
ARVD9	H00293	Arrhythmogenic right ventricular cardiomyopathy	Cardiovascular disease
PPKS2/ARVD8/DCWHK	H00717	Striate palmoplantar keratoderma	Congenital malformation
	H00293	Arrhythmogenic right ventricular cardiomyopathy	Cardiovascular disease
	H02094	Carvajal syndrome	Congenital malformation
ARCI1	H00734	Autosomal recessive congenital ichthyosis	Congenital malformation
PSS2	H00737	Peeling skin syndrome	Congenital malformation
VOWNKL	H00714	Vohwinkel syndrome	Congenital malformation
UHS3	H01796	Uncombable hair syndrome	Congenital malformation
UHS2	H01796	Uncombable hair syndrome	Congenital malformation
IKSHD	H02675	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features	Congenital malformation
ISQMR/SCA34/STGD3	H02935	Ichthyosis, spastic quadriplegia, and impaired intellectual development	Congenital malformation
	H00063	Spinocerebellar ataxia (SCA)	Neurodegenerative disease
	H00819	Stargardt disease	Nervous system disease
ARCI5	H00734	Autosomal recessive congenital ichthyosis	Congenital malformation
IPS	H00741	Ichthyosis prematurity syndrome	Congenital malformation
ALS27/HSAN1A	H00058	Amyotrophic lateral sclerosis (ALS)	Neurodegenerative disease
	H00265	Hereditary sensory and autonomic neuropathy	Nervous system disease
HSAN1C	H00265	Hereditary sensory and autonomic neuropathy	Nervous system disease
EKVP4	H00710	Erythrokeratodermia variabilis	Congenital malformation
ARCI9	H00734	Autosomal recessive congenital ichthyosis	Congenital malformation
CDS	H00736	Dorfman-Chanarin syndrome	Inherited metabolic disorder
ARCI10	H00734	Autosomal recessive congenital ichthyosis	Congenital malformation
HI/ARCI4	H00733	Harlequin ichthyosis	Congenital malformation
	H00734	Autosomal recessive congenital ichthyosis	Congenital malformation
ARCI2	H00734	Autosomal recessive congenital ichthyosis	Congenital malformation
ARCI3	H00734	Autosomal recessive congenital ichthyosis	Congenital malformation
ARCI13	H00734	Autosomal recessive congenital ichthyosis	Congenital malformation
GD	H00126	Gaucher disease	Inherited metabolic disorder, Lysosomal disease
SPG46	H00266	Hereditary spastic paraplegia	Nervous system disease
ADLI	H02449	Autosomal dominant lamellar ichthyosis	Congenital malformation
ARCI11	H00734	Autosomal recessive congenital ichthyosis	Congenital malformation
	H00739	Ichthyosis with hypotrichosis	Congenital malformation
IV/ATOD2	H00735	Ichthyosis vulgaris	Congenital malformation
	H01358	Atopic dermatitis	Immune system disease
PSS6	H00737	Peeling skin syndrome	Congenital malformation
EHK1/IHCM/PPKS3/EPPK2/AEI2	H00691	Bullous congenital ichthyosiform erythroderma (BCIE)	Congenital malformation
	H00707	Ichthyosis hystrix	Congenital malformation
	H00717	Striate palmoplantar keratoderma	Congenital malformation
	H00722	Epidermolytic palmoplantar keratoderma	Congenital malformation
	H02265	Annular epidermolytic ichthyosis	Congenital malformation
IBS	H00693	Ichthyosis bullosa of Siemens	Congenital malformation
EHK2/IHL/IWC/AEI1	H00691	Bullous congenital ichthyosiform erythroderma (BCIE)	Congenital malformation
	H00707	Ichthyosis hystrix	Congenital malformation
	H00738	Ichthyosis with confetti	Congenital malformation
	H02265	Annular epidermolytic ichthyosis	Congenital malformation
UHS1	H01796	Uncombable hair syndrome	Congenital malformation
ARCI12	H00734	Autosomal recessive congenital ichthyosis	Congenital malformation
SPG76	H00266	Hereditary spastic paraplegia	Nervous system disease
Histidinemia	H00171	Histidinemia	Inherited metabolic disorder