Phenotype: Pruritus (HP:0000989)
Associated genes and diseases:
gene_symbol: SCN9A
disease_id: OMIM:133020
disease_name: ERYTHERMALGIA, PRIMARY
gene_symbol: SCN9A
disease_id: ORPHA:90026
disease_name: Primary erythromelalgia
Primary erythermalgia
gene_symbol: ASXL1
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: ASXL1
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: TET2
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: TET2
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: CBL
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: RUNX1
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: SRSF2
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: SRSF2
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: MPL
disease_id: ORPHA:71493
disease_name: Familial thrombocytosis
Familial thrombocythemia
Hereditary thrombocythemia
gene_symbol: THPO
disease_id: ORPHA:71493
disease_name: Familial thrombocytosis
Familial thrombocythemia
Hereditary thrombocythemia
gene_symbol: JAK2
disease_id: ORPHA:71493
disease_name: Familial thrombocytosis
Familial thrombocythemia
Hereditary thrombocythemia
gene_symbol: JAK2
disease_id: ORPHA:729
disease_name: Polycythemia vera
Acquired primary erythrocytosis
Osler-Vaquez disease
PV
Polycythemia rubra vera
Vaquez disease
gene_symbol: KIT
disease_id: ORPHA:280785
disease_name: Bullous diffuse cutaneous mastocytosis
Bullous DCM
gene_symbol: KIT
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: KIT
disease_id: ORPHA:79455
disease_name: Cutaneous mastocytoma
Cutaneous local mastocytoma
Multiple mastocytoma
Solitary mastocytoma
gene_symbol: FECH
disease_id: OMIM:177000
disease_name: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
gene_symbol: FECH
disease_id: ORPHA:79278
disease_name: Autosomal erythropoietic protoporphyria
EPP
gene_symbol: STX3
disease_id: ORPHA:2290
disease_name: Microvillus inclusion disease
Congenital microvillous atrophy
Congenital microvillus atrophy
MVID
Microvillous inclusion disease
gene_symbol: MYO5B
disease_id: ORPHA:2290
disease_name: Microvillus inclusion disease
Congenital microvillous atrophy
Congenital microvillus atrophy
MVID
Microvillous inclusion disease
gene_symbol: MYO5B
disease_id: OMIM:619868
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10
gene_symbol: KRT5
disease_id: ORPHA:158681
disease_name: Epidermolysis bullosa simplex with circinate migratory erythema
EBS with circinate migratory erythema
EBS-migr
gene_symbol: KRT5
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: KRT5
disease_id: ORPHA:79400
disease_name: Localized epidermolysis bullosa simplex
EBS-loc
Epidermolysis bullosa simplex of palms and soles
Epidermolysis bullosa simplex, Weber-Cockayne type
Localized EBS
gene_symbol: KRT5
disease_id: ORPHA:79399
disease_name: Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
Autosomal dominant generalized EBS, intermediate form
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Köbner type
gene_symbol: CTNNB1
disease_id: ORPHA:91414
disease_name: Pilomatrixoma
Epithelioma calcificans of Malherbe
Pilomatricoma
gene_symbol: HLA-DQB1
disease_id: ORPHA:703
disease_name: Bullous pemphigoid
gene_symbol: HLA-DRB1
disease_id: ORPHA:703
disease_name: Bullous pemphigoid
gene_symbol: PDGFRA
disease_id: OMIM:607685
disease_name: HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC
gene_symbol: EPOR
disease_id: ORPHA:90042
disease_name: Primary familial polycythemia
Congenital erythrocytosis due to erythropoietin receptor mutation
Congenital polycythemia due to erythropoietin receptor mutation
Familial erythrocytosis
PFCP
Primary congenital erythrocytosis
Primary familial and congenital polycythemia
gene_symbol: POGLUT1
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: POGLUT1
disease_id: OMIM:615696
disease_name: DOWLING-DEGOS DISEASE 4
gene_symbol: POFUT1
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: PSENEN
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: DNASE1L3
disease_id: ORPHA:36412
disease_name: Hypocomplementemic urticarial vasculitis
Anti-C1q vasculitis
Mac Duffie hypocomplementemic urticarial vasculitis
Mac Duffie syndrome
McDuffie hypocomplementemic urticarial vasculitis
McDuffie syndrome
gene_symbol: HSD3B7
disease_id: ORPHA:79301
disease_name: Congenital bile acid synthesis defect type 1
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
BASD1
gene_symbol: PKHD1
disease_id: ORPHA:53035
disease_name: Caroli disease
gene_symbol: AQP5
disease_id: ORPHA:2337
disease_name: Diffuse palmoplantar keratoderma, Bothnian type
Diffuse palmoplantar keratoderma, Bothnia type
NEPPK, Bothnia type
NEPPK, Bothnian type
gene_symbol: XPNPEP2
disease_id: ORPHA:100057
disease_name: Renin-angiotensin-aldosterone system-blocker-induced angioedema
ACE inhibitor-related acquired angioedema
ACEI-related acquired angioedema
Acquired angioedema with normal C1 inhibitor
Acquired angioedema with normal C1INH
RAAS-blocker-induced angioedema
RAAS-blocker-induced angioneurotic edema
RAE
Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema
gene_symbol: SLC27A4
disease_id: OMIM:608649
disease_name: ICHTHYOSIS PREMATURITY SYNDROME
gene_symbol: CAST
disease_id: OMIM:616295
disease_name: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
gene_symbol: COL7A1
disease_id: ORPHA:89843
disease_name: Dystrophic epidermolysis bullosa pruriginosa
DEB pruriginosa
DEB-Pr
Pruriginous dystrophic epidermolysis bullosa
gene_symbol: COL7A1
disease_id: ORPHA:79410
disease_name: Localized dystrophic epidermolysis bullosa, pretibial form
DEB-Pt
Localized DEB, pretibial form
gene_symbol: COL7A1
disease_id: OMIM:131850
disease_name: EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL
gene_symbol: ZFYVE19
disease_id: OMIM:619849
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9
gene_symbol: BRCA1
disease_id: ORPHA:70567
disease_name: Cholangiocarcinoma
Bile duct cancer
CCA
gene_symbol: BRCA2
disease_id: ORPHA:70567
disease_name: Cholangiocarcinoma
Bile duct cancer
CCA
gene_symbol: PTPN3
disease_id: ORPHA:70567
disease_name: Cholangiocarcinoma
Bile duct cancer
CCA
gene_symbol: ROS1
disease_id: ORPHA:70567
disease_name: Cholangiocarcinoma
Bile duct cancer
CCA
gene_symbol: PERP
disease_id: OMIM:619208
disease_name: OLMSTED SYNDROME 2
gene_symbol: LBR
disease_id: ORPHA:779
disease_name: Reynolds syndrome
Primary biliary cirrhosis and systemic scleroderma
gene_symbol: LBR
disease_id: OMIM:613471
disease_name: REYNOLDS SYNDROME
gene_symbol: ATP2A2
disease_id: OMIM:124200
disease_name: DARIER-WHITE DISEASE
gene_symbol: ATP2A2
disease_id: ORPHA:218
disease_name: Darier disease
Darier-White disease
Keratosis follicularis
gene_symbol: FLG2
disease_id: OMIM:618084
disease_name: PEELING SKIN SYNDROME 6
gene_symbol: KRT14
disease_id: ORPHA:89838
disease_name: Autosomal recessive generalized epidermolysis bullosa simplex
Autosomal recessive generalized EBS
gene_symbol: KRT14
disease_id: ORPHA:79400
disease_name: Localized epidermolysis bullosa simplex
EBS-loc
Epidermolysis bullosa simplex of palms and soles
Epidermolysis bullosa simplex, Weber-Cockayne type
Localized EBS
gene_symbol: KRT14
disease_id: ORPHA:79399
disease_name: Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
Autosomal dominant generalized EBS, intermediate form
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Köbner type
gene_symbol: ABCB11
disease_id: OMIM:601847
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2
gene_symbol: ABCB11
disease_id: OMIM:605479
disease_name: CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2
gene_symbol: ABCB11
disease_id: OMIM:602347
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3
gene_symbol: ABCB11
disease_id: ORPHA:69665
disease_name: Intrahepatic cholestasis of pregnancy
Gravidic intrahepatic cholestasis
Pregnancy-related cholestasis
Recurrent intrahepatic cholestasis of pregnancy
gene_symbol: DCDC2
disease_id: OMIM:617394
disease_name: SCLEROSING CHOLANGITIS, NEONATAL
gene_symbol: GPR35
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: SEMA4D
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: MST1
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: TCF4
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: NLRP3
disease_id: ORPHA:47045
disease_name: Familial cold urticaria
FCAS
FCU
Familial cold autoinflammatory syndrome
gene_symbol: SCN11A
disease_id: ORPHA:90026
disease_name: Primary erythromelalgia
Primary erythermalgia
gene_symbol: SCN11A
disease_id: OMIM:615548
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII
gene_symbol: SCN10A
disease_id: ORPHA:90026
disease_name: Primary erythromelalgia
Primary erythermalgia
gene_symbol: STAT3
disease_id: ORPHA:2314
disease_name: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
AD-HIES due to STAT3 deficiency
Autosomal dominant HIES due to STAT3 deficiency
Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency
Buckley syndrome
Job syndrome
gene_symbol: KRT10
disease_id: OMIM:609165
disease_name: ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR
gene_symbol: UROD
disease_id: ORPHA:95159
disease_name: Hepatoerythropoietic porphyria
HEP
gene_symbol: ST14
disease_id: OMIM:602400
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11
gene_symbol: TRPM4
disease_id: OMIM:618531
disease_name: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6
gene_symbol: ABCB4
disease_id: OMIM:614972
disease_name: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
gene_symbol: ABCB4
disease_id: OMIM:602347
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3
gene_symbol: ABCB4
disease_id: ORPHA:69665
disease_name: Intrahepatic cholestasis of pregnancy
Gravidic intrahepatic cholestasis
Pregnancy-related cholestasis
Recurrent intrahepatic cholestasis of pregnancy
gene_symbol: IL17RC
disease_id: ORPHA:1334
disease_name: Chronic mucocutaneous candidiasis
CMC
gene_symbol: CLEC7A
disease_id: ORPHA:1334
disease_name: Chronic mucocutaneous candidiasis
CMC
gene_symbol: IL17RA
disease_id: ORPHA:1334
disease_name: Chronic mucocutaneous candidiasis
CMC
gene_symbol: TRAF3IP2
disease_id: ORPHA:1334
disease_name: Chronic mucocutaneous candidiasis
CMC
gene_symbol: IL17F
disease_id: ORPHA:1334
disease_name: Chronic mucocutaneous candidiasis
CMC
gene_symbol: ASPRV1
disease_id: OMIM:146750
disease_name: ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT
gene_symbol: ASPRV1
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: CST6
disease_id: OMIM:618535
disease_name: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE
gene_symbol: VIPAS39
disease_id: OMIM:613404
disease_name: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
gene_symbol: DSP
disease_id: OMIM:615821
disease_name: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
gene_symbol: SLCO1B3
disease_id: ORPHA:3111
disease_name: Rotor syndrome
Hyperbilirubinemia, Rotor type
gene_symbol: SLCO1B1
disease_id: ORPHA:3111
disease_name: Rotor syndrome
Hyperbilirubinemia, Rotor type
gene_symbol: ALOX12B
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: ALOX12B
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: CYP4F22
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: SULT2B1
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: SULT2B1
disease_id: OMIM:617571
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14
gene_symbol: SULT2B1
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: ABCA12
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: ABCA12
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: LIPN
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: ALOXE3
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: ALOXE3
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: NIPAL4
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: NIPAL4
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: SDR9C7
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: SDR9C7
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: TGM1
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: TGM1
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: FLI1
disease_id: ORPHA:370348
disease_name: Peripheral primitive neuroectodermal tumor
PPNET
Peripheral PNET
Peripheral neuroepithelioma
gene_symbol: LDHA
disease_id: ORPHA:284426
disease_name: Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
GSD due to lactate dehydrogenase M-subunit deficiency
Glycogenosis due to lactate dehydrogenase M-subunit deficiency
LDH-M subunit deficiency
Lactate dehydrogenase A deficiency
gene_symbol: CCDC47
disease_id: OMIM:618268
disease_name: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME
gene_symbol: SEMA7A
disease_id: OMIM:619874
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 11
gene_symbol: PLEC
disease_id: OMIM:616487
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
gene_symbol: CDSN
disease_id: ORPHA:90368
disease_name: Hypotrichosis simplex of the scalp
Hereditary hypotrichosis simplex of the scalp
gene_symbol: CDSN
disease_id: OMIM:270300
disease_name: PEELING SKIN SYNDROME 1
gene_symbol: KRT74
disease_id: ORPHA:90368
disease_name: Hypotrichosis simplex of the scalp
Hereditary hypotrichosis simplex of the scalp
gene_symbol: KLK11
disease_id: OMIM:620507
disease_name: ICHTHYOSIS WITH ERYTHROKERATODERMA
gene_symbol: ATP7B
disease_id: ORPHA:905
disease_name: Wilson disease
Hepatolenticular degeneration
gene_symbol: PLCG2
disease_id: OMIM:614468
disease_name: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3
gene_symbol: ATP8B1
disease_id: OMIM:211600
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1
gene_symbol: ATP8B1
disease_id: OMIM:602347
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3
gene_symbol: ATP8B1
disease_id: ORPHA:69665
disease_name: Intrahepatic cholestasis of pregnancy
Gravidic intrahepatic cholestasis
Pregnancy-related cholestasis
Recurrent intrahepatic cholestasis of pregnancy
gene_symbol: ATP8B1
disease_id: OMIM:243300
disease_name: CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1
gene_symbol: ATP8B1
disease_id: OMIM:147480
disease_name: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
gene_symbol: SOX5
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: ALK
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: ZEB2
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: NRAS
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: BRAF
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: RAF1
disease_id: ORPHA:626
disease_name: Large/giant congenital melanocytic nevus
LGCMN
Large/giant CMN syndrome
Large/giant congenital pigmented nevus
gene_symbol: HLA-DRA
disease_id: ORPHA:505
disease_name: Graham Little-Piccardi-Lassueur syndrome
Graham Little syndrome
Piccardi-Lassueur-Little syndrome
gene_symbol: LRP1
disease_id: ORPHA:79100
disease_name: Atrophoderma vermiculata
Folliculitis ulerythematosa reticulate
gene_symbol: LRP1
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: RMRP
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: PSMB10
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: CHD7
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: LIG4
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: RAG1
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: RAG2
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: DCLRE1C
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: ADA
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: IL7R
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: IL2RG
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: PEPD
disease_id: ORPHA:742
disease_name: Prolidase deficiency
Hyperimidodipeptiduria
gene_symbol: CARD14
disease_id: ORPHA:2897
disease_name: Pityriasis rubra pilaris
gene_symbol: IL12RB1
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: TNPO3
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: IL12A
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: SPIB
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: POU2AF1
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: TNFSF15
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: MMEL1
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: IRF5
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: GSN
disease_id: ORPHA:85448
disease_name: AGel amyloidosis
Familial amyloid polyneuropathy type IV
Familial amyloidosis, Finnish type
Gelsolin amyloidosis
Hereditary amyloidosis, Finnish type
gene_symbol: TRPV3
disease_id: OMIM:614594
disease_name: OLMSTED SYNDROME 1
gene_symbol: NR1H4
disease_id: ORPHA:69665
disease_name: Intrahepatic cholestasis of pregnancy
Gravidic intrahepatic cholestasis
Pregnancy-related cholestasis
Recurrent intrahepatic cholestasis of pregnancy
gene_symbol: PMVK
disease_id: ORPHA:735
disease_name: Porokeratosis of Mibelli
gene_symbol: MVK
disease_id: ORPHA:735
disease_name: Porokeratosis of Mibelli
gene_symbol: MVK
disease_id: ORPHA:79152
disease_name: Disseminated superficial actinic porokeratosis
gene_symbol: TJP2
disease_id: OMIM:607748
disease_name: HYPERCHOLANEMIA, FAMILIAL 1
gene_symbol: MED12
disease_id: OMIM:301068
disease_name: HARDIKAR SYNDROME
gene_symbol: CLDN1
disease_id: OMIM:607626
disease_name: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
gene_symbol: OSMR
disease_id: OMIM:105250
disease_name: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1
gene_symbol: ZNF341
disease_id: OMIM:618282
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
gene_symbol: DSG4
disease_id: OMIM:607903
disease_name: HYPOTRICHOSIS 6
gene_symbol: CTLA4
disease_id: ORPHA:3162
disease_name: Sézary syndrome
Sézary lymphoma
gene_symbol: CTLA4
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
gene_symbol: CD28
disease_id: ORPHA:3162
disease_name: Sézary syndrome
Sézary lymphoma
gene_symbol: CD28
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
gene_symbol: TNFRSF1B
disease_id: ORPHA:3162
disease_name: Sézary syndrome
Sézary lymphoma
gene_symbol: TNFRSF1B
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
gene_symbol: UNC45A
disease_id: OMIM:619377
disease_name: OSTEOOTOHEPATOENTERIC SYNDROME
gene_symbol: PKP1
disease_id: ORPHA:158668
disease_name: Ectodermal dysplasia-skin fragility syndrome
McGrath syndrome
gene_symbol: PPP1R13L
disease_id: OMIM:620519
disease_name: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES
gene_symbol: USP53
disease_id: OMIM:619658
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS
gene_symbol: IL31RA
disease_id: OMIM:613955
disease_name: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2
gene_symbol: FH
disease_id: ORPHA:523
disease_name: Hereditary leiomyomatosis and renal cell cancer
Familial leiomyomatosis and renal cell cancer
Familial leiomyomatosis cutis et uteri
Familial leiomyomatosis with renal carcinoma
Familial multiple cutaneous leiomyomas
HLRCC
Hereditary leiomyomatosis
Hereditary leiomyomatosis with renal carcinoma
Hereditary multiple cutaneous leiomyomas
MCUL
Multiple cutaneous and uterine leiomyomas
Reed syndrome
gene_symbol: MIA3
disease_id: OMIM:619269
disease_name: ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES
gene_symbol: KIF12
disease_id: OMIM:619662
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8
gene_symbol: GPNMB
disease_id: OMIM:617920
disease_name: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3
gene_symbol: EPAS1
disease_id: OMIM:611783
disease_name: ERYTHROCYTOSIS, FAMILIAL, 4
gene_symbol: CERS3
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: PNPLA1
disease_id: ORPHA:79394
disease_name: Congenital ichthyosiform erythroderma
CIE
Erythrodermic ichthyosis
Non-bullous congenital ichthyosiform erythroderma
gene_symbol: FDPS
disease_id: ORPHA:79152
disease_name: Disseminated superficial actinic porokeratosis
gene_symbol: MVD
disease_id: ORPHA:79152
disease_name: Disseminated superficial actinic porokeratosis
gene_symbol: SLC17A9
disease_id: ORPHA:79152
disease_name: Disseminated superficial actinic porokeratosis
gene_symbol: SAT1
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: MBTPS2
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: UROS
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: GATA1
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: VPS33B
disease_id: OMIM:620010
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 12
gene_symbol: LIPA
disease_id: ORPHA:75234
disease_name: Cholesteryl ester storage disease
Cholesterol ester storage disease
gene_symbol: CFTR
disease_id: ORPHA:498359
disease_name: Aquagenic palmoplantar keratoderma
Aquagenic keratoderma
Aquagenic syringeal acrokeratoderma
Aquagenic wrinkling of the palms
Transient reactive papulotranslucent acrokeratoderma