TaoMedAI/RareMedData huggingface dataset:
Phenotype: Adermatoglyphia (HP:0007455)
Associated genes and diseases:
gene_symbol: COL17A1
disease_id: ORPHA:79406
disease_name: Late-onset junctional epidermolysis bullosa
Epidermolysis bullosa progressiva
JEB-lo
Late-onset JEB
gene_symbol: KRT14
disease_id: OMIM:161000
disease_name: NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME
gene_symbol: KRT14
disease_id: ORPHA:69087
disease_name: Naegeli-Franceschetti-Jadassohn syndrome
NFJ syndrome
Naegeli syndrome
gene_symbol: KRT14
disease_id: OMIM:125595
disease_name: DERMATOPATHIA PIGMENTOSA RETICULARIS
gene_symbol: SMARCAD1
disease_id: OMIM:136000
disease_name: ADERMATOGLYPHIA
gene_symbol: SMARCAD1
disease_id: OMIM:181600
disease_name: HURIEZ SYNDROME
gene_symbol: SMARCAD1
disease_id: OMIM:129200
disease_name: BASAN SYNDROME
gene_symbol: TP63
disease_id: OMIM:103285
disease_name: ADULT SYNDROME
Phenotype: Progressive reticulate hyperpigmentation (HP:0007456)
Associated genes and diseases:
gene_symbol: KRT5
disease_id: OMIM:179850
disease_name: DOWLING-DEGOS DISEASE 1
gene_symbol: KRT5
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: POGLUT1
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
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
Phenotype: Prominent veins on trunk (HP:0007457)
Associated genes and diseases:
gene_symbol: ATP6V0A2
disease_id: ORPHA:2834
disease_name: Wrinkly skin syndrome
WSS
Wrinkled skin syndrome
gene_symbol: ATP6V0A2
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: PPARG
disease_id: ORPHA:79083
disease_name: PPARG-related familial partial lipodystrophy
FPLD3
Familial partial lipodystrophy type 3
PPARG-related FPLD
gene_symbol: AEBP1
disease_id: ORPHA:536532
disease_name: Classical-like Ehlers-Danlos syndrome type 2
AEBP1-related EDS
AEBP1-related Ehlers-Danlos syndrome
Classical-like EDS type 2
clEDS type 2
gene_symbol: ATP6V1A
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: ATP6V1E1
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
Phenotype: Generalized anhidrosis (HP:0007459)
Associated genes and diseases:
gene_symbol: ITPR2
disease_id: OMIM:106190
disease_name: ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS
Phenotype: Short distal phalanx of the 3rd finger (HP:0004180)
Associated genes and diseases:
gene_symbol: COL2A1
disease_id: OMIM:271700
disease_name: SPONDYLOPERIPHERAL DYSPLASIA
gene_symbol: GNAS
disease_id: ORPHA:79445
disease_name: Pseudopseudohypoparathyroidism
AHO-PPHP syndrome
Albright hereditary osteodystrophy-PPHP syndrome
Phenotype: Joint contracture of the 4th finger (HP:0009274)
Associated genes and diseases:
gene_symbol: FBXW11
disease_id: OMIM:618914
disease_name: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
gene_symbol: SIN3A
disease_id: OMIM:613406
disease_name: WITTEVEEN-KOLK SYNDROME
gene_symbol: KDM5B
disease_id: OMIM:618109
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65
gene_symbol: TLK2
disease_id: OMIM:618050
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
gene_symbol: TBX2
disease_id: OMIM:618223
disease_name: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
gene_symbol: ERI1
disease_id: OMIM:620662
disease_name: HOXHA-ALIU SYNDROME
gene_symbol: ASXL3
disease_id: OMIM:615485
disease_name: BAINBRIDGE-ROPERS SYNDROME
Phenotype: Autoamputation of digits (HP:0007460)
Associated genes and diseases:
gene_symbol: KRT1
disease_id: ORPHA:79503
disease_name: Ichthyosis hystrix of Curth-Macklin
Ichthyosis hystrix, Curth-Macklin type
gene_symbol: GJB2
disease_id: ORPHA:494
disease_name: Keratoderma hereditarium mutilans
Mutilating keratoderma of Vohwinkel
Mutilating keratoderma plus deafness
Mutilating keratoderma plus hearing loss
PPK mutilans and deafness
PPK mutilans and hearing loss
Vohwinkel syndrome
gene_symbol: GJB2
disease_id: OMIM:124500
disease_name: VOHWINKEL SYNDROME
gene_symbol: WNK1
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: RETREG1
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: RETREG1
disease_id: OMIM:613115
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB
gene_symbol: SCN9A
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: KIF1A
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: KIF1A
disease_id: OMIM:614213
disease_name: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
gene_symbol: TRPV3
disease_id: OMIM:614594
disease_name: OLMSTED SYNDROME 1
gene_symbol: TGM1
disease_id: ORPHA:100976
disease_name: Bathing suit ichthyosis
BSI
gene_symbol: SPTLC2
disease_id: OMIM:613640
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
gene_symbol: VPS33B
disease_id: OMIM:620009
disease_name: KERATODERMA-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: NTRK1
disease_id: OMIM:256800
disease_name: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
gene_symbol: TREX1
disease_id: OMIM:610448
disease_name: CHILBLAIN LUPUS 1
gene_symbol: ATL1
disease_id: OMIM:613708
disease_name: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
Phenotype: Persistent bleeding after trauma (HP:0001934)
Associated genes and diseases:
gene_symbol: SERPINF2
disease_id: ORPHA:79
disease_name: Congenital alpha2-antiplasmin deficiency
gene_symbol: SERPINF2
disease_id: OMIM:262850
disease_name: ALPHA-2-PLASMIN INHIBITOR DEFICIENCY
gene_symbol: F13B
disease_id: ORPHA:331
disease_name: Congenital factor XIII deficiency
Fibrin-stabilizing factor deficiency
gene_symbol: F13A1
disease_id: ORPHA:331
disease_name: Congenital factor XIII deficiency
Fibrin-stabilizing factor deficiency
gene_symbol: F13A1
disease_id: OMIM:613225
disease_name: FACTOR XIII, A SUBUNIT, DEFICIENCY OF
gene_symbol: F9
disease_id: OMIM:306900
disease_name: HEMOPHILIA B
gene_symbol: SERPINE1
disease_id: ORPHA:465
disease_name: Congenital plasminogen activator inhibitor type 1 deficiency
Congenital PAI-1 deficiency
gene_symbol: F8
disease_id: OMIM:306700
disease_name: HEMOPHILIA A
gene_symbol: F8
disease_id: ORPHA:169802
disease_name: Severe hemophilia A
Severe congenital F8 deficiency
Severe congenital factor VIII deficiency
gene_symbol: FGG
disease_id: OMIM:202400
disease_name: AFIBRINOGENEMIA, CONGENITAL
gene_symbol: FGA
disease_id: OMIM:202400
disease_name: AFIBRINOGENEMIA, CONGENITAL
gene_symbol: FGB
disease_id: OMIM:202400
disease_name: AFIBRINOGENEMIA, CONGENITAL
gene_symbol: VWF
disease_id: OMIM:193400
disease_name: VON WILLEBRAND DISEASE, TYPE 1
gene_symbol: VWF
disease_id: OMIM:277480
disease_name: VON WILLEBRAND DISEASE, TYPE 3
gene_symbol: GATA1
disease_id: OMIM:300367
disease_name: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
gene_symbol: DTNBP1
disease_id: OMIM:614076
disease_name: HERMANSKY-PUDLAK SYNDROME 7
gene_symbol: MCFD2
disease_id: OMIM:613625
disease_name: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
gene_symbol: P2RY12
disease_id: OMIM:609821
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 8
gene_symbol: F5
disease_id: ORPHA:326
disease_name: Congenital factor V deficiency
Owren disease
Parahemophilia
Proaccelerin deficiency
Phenotype: Sparse facial hair (HP:0007464)
Associated genes and diseases:
gene_symbol: RMRP
disease_id: OMIM:250250
disease_name: CARTILAGE-HAIR HYPOPLASIA
Phenotype: Honeycomb palmoplantar hyperkeratosis (HP:0007465)
Associated genes and diseases:
gene_symbol: LORICRIN
disease_id: OMIM:604117
disease_name: VOHWINKEL SYNDROME, VARIANT FORM
gene_symbol: LORICRIN
disease_id: ORPHA:79395
disease_name: Keratoderma hereditarium mutilans with ichthyosis
Camisa disease
Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome
Loricrin keratoderma
Vohwinkel syndrome with ichthyosis
gene_symbol: GJB2
disease_id: OMIM:124500
disease_name: VOHWINKEL SYNDROME
gene_symbol: GJB2
disease_id: ORPHA:494
disease_name: Keratoderma hereditarium mutilans
Mutilating keratoderma of Vohwinkel
Mutilating keratoderma plus deafness
Mutilating keratoderma plus hearing loss
PPK mutilans and deafness
PPK mutilans and hearing loss
Vohwinkel syndrome
gene_symbol: POMP
disease_id: OMIM:601952
disease_name: KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA
Phenotype: Midfrontal capillary hemangioma (HP:0007466)
Associated genes and diseases:
gene_symbol: MGAT2
disease_id: OMIM:212066
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa
gene_symbol: POR
disease_id: ORPHA:95699
disease_name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome POR deficiency
POR deficiency
PORD
Phenotype: Perifollicular hyperkeratosis (HP:0007468)
Associated genes and diseases:
gene_symbol: KRT86
disease_id: OMIM:158000
disease_name: MONILETHRIX
gene_symbol: HLA-DRA
disease_id: ORPHA:505
disease_name: Graham Little-Piccardi-Lassueur syndrome
Graham Little syndrome
Piccardi-Lassueur-Little syndrome
Phenotype: Palmoplantar cutis gyrata (HP:0007469)
Associated genes and diseases:
gene_symbol: FGFR2
disease_id: ORPHA:1555
disease_name: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Beare-Stevenson cutis gyrata syndrome
gene_symbol: B4GALT7
disease_id: ORPHA:75496
disease_name: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
B4GALT7-related spondylodysplastic EDS
EDS progeroid type 1
EDS with short stature and limb anomalies
spEDS-B4GALT7
gene_symbol: B4GALT7
disease_id: OMIM:130070
disease_name: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
Phenotype: Abnormal 4th finger phalanx morphology (HP:0009172)
Associated genes and diseases:
gene_symbol: COL2A1
disease_id: OMIM:271700
disease_name: SPONDYLOPERIPHERAL DYSPLASIA
gene_symbol: GDF5
disease_id: OMIM:615072
disease_name: BRACHYDACTYLY, TYPE A1, C
gene_symbol: MECOM
disease_id: OMIM:616738
disease_name: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
Phenotype: Short 4th finger (HP:0009280)
Associated genes and diseases:
gene_symbol: COL2A1
disease_id: OMIM:271700
disease_name: SPONDYLOPERIPHERAL DYSPLASIA
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
gene_symbol: GDF5
disease_id: OMIM:615072
disease_name: BRACHYDACTYLY, TYPE A1, C
gene_symbol: MECOM
disease_id: OMIM:616738
disease_name: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
Phenotype: Symphalangism of the 4th finger (HP:0004197)
Associated genes and diseases:
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
Phenotype: Abnormality of the proximal phalanx of the 4th finger (HP:0009284)
Associated genes and diseases:
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
Phenotype: Periarticular subcutaneous nodules (HP:0007470)
Associated genes and diseases:
gene_symbol: ASAH1
disease_id: OMIM:228000
disease_name: FARBER LIPOGRANULOMATOSIS
gene_symbol: ASAH1
disease_id: ORPHA:333
disease_name: Farber disease
Acid ceramidase deficiency
Farber lipogranulomatosis
gene_symbol: IARS2
disease_id: ORPHA:436174
disease_name: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
CAGSSS
Phenotype: Crusting erythematous dermatitis (HP:0007473)
Associated genes and diseases:
gene_symbol: PEPD
disease_id: OMIM:170100
disease_name: PROLIDASE DEFICIENCY
gene_symbol: PEPD
disease_id: ORPHA:742
disease_name: Prolidase deficiency
Hyperimidodipeptiduria
gene_symbol: FOXP3
disease_id: ORPHA:37042
disease_name: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Autoimmune enteropathy type 1
IPEX
gene_symbol: COL7A1
disease_id: ORPHA:158673
disease_name: Localized dystrophic epidermolysis bullosa, acral form
Localized DEB, acral form
Phenotype: Congenital bullous ichthyosiform erythroderma (HP:0007475)
Associated genes and diseases:
gene_symbol: KRT10
disease_id: ORPHA:312
disease_name: Autosomal dominant epidermolytic ichthyosis
BCIE
Bullous congenital ichthyosiform erythroderma
Bullous congenital ichthyosiform erythroderma of Brock
Bullous ichthyosis
EHK
EI
Epidermolytic hyperkeratosis
Ichthyosis hystrix Brocq type
gene_symbol: KRT10
disease_id: OMIM:607602
disease_name: ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS
gene_symbol: KRT1
disease_id: ORPHA:312
disease_name: Autosomal dominant epidermolytic ichthyosis
BCIE
Bullous congenital ichthyosiform erythroderma
Bullous congenital ichthyosiform erythroderma of Brock
Bullous ichthyosis
EHK
EI
Epidermolytic hyperkeratosis
Ichthyosis hystrix Brocq type
gene_symbol: KRT1
disease_id: OMIM:113800
disease_name: EPIDERMOLYTIC HYPERKERATOSIS
gene_symbol: KRT2
disease_id: OMIM:146800
disease_name: ICHTHYOSIS BULLOSA OF SIEMENS
gene_symbol: KRT16
disease_id: OMIM:613000
disease_name: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1
Phenotype: Anhidrotic ectodermal dysplasia (HP:0007476)
Associated genes and diseases:
gene_symbol: NFKBIA
disease_id: OMIM:612132
disease_name: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2
gene_symbol: TP63
disease_id: OMIM:129400
disease_name: RAPP-HODGKIN SYNDROME
Phenotype: Decreased sweating due to autonomic dysfunction (HP:0007480)
Associated genes and diseases:
gene_symbol: LMNB1
disease_id: ORPHA:99027
disease_name: Adult-onset autosomal dominant leukodystrophy
ADLD
Adult-onset autosomal dominant demyelinating leukodystrophy
Phenotype: Hyperpigmented nevi (HP:0007481)
Associated genes and diseases:
gene_symbol: RBM28
disease_id: ORPHA:157954
disease_name: ANE syndrome
Alopecia-progressive neurological defect-endocrinopathy syndrome
gene_symbol: MC1R
disease_id: ORPHA:79432
disease_name: Oculocutaneous albinism type 2
OCA2
gene_symbol: OCA2
disease_id: ORPHA:79432
disease_name: Oculocutaneous albinism type 2
OCA2
Phenotype: Generalized papillary lesions (HP:0007482)
Associated genes and diseases:
gene_symbol: HR
disease_id: OMIM:209500
disease_name: ATRICHIA WITH PAPULAR LESIONS
Phenotype: Depigmentation/hyperpigmentation of skin (HP:0007483)
Associated genes and diseases:
gene_symbol: AKT1
disease_id: OMIM:176920
disease_name: PROTEUS SYNDROME
gene_symbol: USP9X
disease_id: ORPHA:480880
disease_name: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
gene_symbol: KRT5
disease_id: ORPHA:79396
disease_name: Autosomal dominant generalized epidermolysis bullosa simplex, severe form
Autosomal dominant generalized EBS, severe form
Epidermolysis bullosa simplex herpetiformis
Epidermolysis bullosa simplex, Dowling-Meara type
gene_symbol: KRT14
disease_id: ORPHA:79396
disease_name: Autosomal dominant generalized epidermolysis bullosa simplex, severe form
Autosomal dominant generalized EBS, severe form
Epidermolysis bullosa simplex herpetiformis
Epidermolysis bullosa simplex, Dowling-Meara type
Phenotype: Absence of subcutaneous fat (HP:0007485)
Associated genes and diseases:
gene_symbol: LMNA
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
gene_symbol: LMNA
disease_id: OMIM:176670
disease_name: HUTCHINSON-GILFORD PROGERIA SYNDROME
gene_symbol: ZMPSTE24
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
gene_symbol: CAV1
disease_id: OMIM:606721
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7
gene_symbol: PIK3R1
disease_id: OMIM:269880
disease_name: SHORT SYNDROME
gene_symbol: ERCC2
disease_id: OMIM:601675
disease_name: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE
gene_symbol: ERCC2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: KCNJ6
disease_id: OMIM:614098
disease_name: KEPPEN-LUBINSKY SYNDROME
gene_symbol: PRIM1
disease_id: OMIM:620005
disease_name: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
gene_symbol: GTF2H5
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: CARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: RNF113A
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: MPLKIP
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: TARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: AARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC3
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: GTF2E2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC4
disease_id: OMIM:610965
disease_name: XFE PROGEROID SYNDROME
gene_symbol: FBN1
disease_id: OMIM:616914
disease_name: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME
gene_symbol: POLR3A
disease_id: OMIM:264090
disease_name: WIEDEMANN-RAUTENSTRAUCH SYNDROME
Phenotype: Cavernous hemangioma of the face (HP:0007486)
Associated genes and diseases:
gene_symbol: ESCO2
disease_id: OMIM:268300
disease_name: ROBERTS-SC PHOCOMELIA SYNDROME
gene_symbol: IDH1
disease_id: ORPHA:99646
disease_name: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
MC-HGA
Phenotype: Patchy hypo- and hyperpigmentation (HP:0007509)
Associated genes and diseases:
gene_symbol: SMS
disease_id: ORPHA:3063
disease_name: X-linked intellectual disability, Snyder type
Snyder-Robinson syndrome
gene_symbol: UBE2A
disease_id: ORPHA:163956
disease_name: X-linked intellectual disability, Nascimento type
X-linked intellectual disability-nail dystrophy-seizures syndrome
gene_symbol: LMNA
disease_id: ORPHA:79474
disease_name: Atypical Werner syndrome
Atypical progeroid syndrome
Phenotype: Diffuse skin atrophy (HP:0007488)
Associated genes and diseases:
gene_symbol: FERMT1
disease_id: OMIM:173650
disease_name: KINDLER SYNDROME
gene_symbol: CTLA4
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
gene_symbol: CD28
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
gene_symbol: TNFRSF1B
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
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
Phenotype: Linear arrays of macular hyperkeratoses in flexural areas (HP:0007490)
Associated genes and diseases:
gene_symbol: POMP
disease_id: OMIM:601952
disease_name: KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA
gene_symbol: KRT16
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: KRT17
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: KRT6A
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: KRT6B
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
Phenotype: Discrete 2 to 5-mm hyper- and hypopigmented macules (HP:0007494)
Associated genes and diseases:
gene_symbol: KRT5
disease_id: OMIM:131960
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION
Phenotype: Focal friction-related palmoplantar hyperkeratosis (HP:0007497)
Associated genes and diseases:
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: 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
Phenotype: Amplification of social interactions (HP:5200212)
Associated genes and diseases:
gene_symbol: PTRHD1
disease_id: OMIM:620747
disease_name: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES
gene_symbol: ATP7B
disease_id: ORPHA:905
disease_name: Wilson disease
Hepatolenticular degeneration
gene_symbol: TRANK1
disease_id: ORPHA:33543
disease_name: Kleine-Levin syndrome
gene_symbol: TDO2
disease_id: OMIM:600627
disease_name: HYPERTRYPTOPHANEMIA
gene_symbol: GRN
disease_id: OMIM:607485
disease_name: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
Phenotype: Abnormal perceptual state (HP:5200216)
Associated genes and diseases:
gene_symbol: TRANK1
disease_id: ORPHA:33543
disease_name: Kleine-Levin syndrome
Phenotype: Derealization (HP:5200218)
Associated genes and diseases:
gene_symbol: TRANK1
disease_id: ORPHA:33543
disease_name: Kleine-Levin syndrome
Phenotype: Abnormal four chamber view of the fetal heart (HP:4000105)
Associated genes and diseases:
gene_symbol: HNRNPK
disease_id: OMIM:616580
disease_name: AU-KLINE SYNDROME
Phenotype: Phobia (HP:5200232)
Associated genes and diseases:
gene_symbol: CREBBP
disease_id: ORPHA:353277
disease_name: Rubinstein-Taybi syndrome due to CREBBP mutations
gene_symbol: CREBBP
disease_id: ORPHA:353281
disease_name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
gene_symbol: EP300
disease_id: ORPHA:353284
disease_name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
gene_symbol: SGCE
disease_id: OMIM:159900
disease_name: DYSTONIA 11, MYOCLONIC
Phenotype: Abnormal change in social behavior (HP:5200243)
Associated genes and diseases:
gene_symbol: EIF4A2
disease_id: OMIM:620455
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES
gene_symbol: PTRHD1
disease_id: OMIM:620747
disease_name: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES
gene_symbol: ATP7B
disease_id: ORPHA:905
disease_name: Wilson disease
Hepatolenticular degeneration
gene_symbol: TRANK1
disease_id: ORPHA:33543
disease_name: Kleine-Levin syndrome
gene_symbol: TDO2
disease_id: OMIM:600627
disease_name: HYPERTRYPTOPHANEMIA
gene_symbol: GRN
disease_id: OMIM:607485
disease_name: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
Phenotype: Left ventricular dilatation (HP:4000141)
Associated genes and diseases:
gene_symbol: HADHB
disease_id: OMIM:620300
disease_name: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2
Phenotype: Hepatic artery hyperplasia (HP:4000148)
Associated genes and diseases:
gene_symbol: KIF20A
disease_id: OMIM:619433
disease_name: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6
Phenotype: Abnormal hepatic artery morphology (HP:4000147)
Associated genes and diseases:
gene_symbol: KIF20A
disease_id: OMIM:619433
disease_name: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6
Phenotype: Multinucleated neuron (HP:4000150)
Associated genes and diseases:
gene_symbol: CEP55
disease_id: OMIM:236500
disease_name: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY
Phenotype: Typified by high penetrance (HP:4000158)
Associated genes and diseases:
gene_symbol: SMAD6
disease_id: OMIM:614823
disease_name: AORTIC VALVE DISEASE 2
Phenotype: Reduced phytanic acid oxidase activity in cultured fibroblasts (HP:4000163)
Associated genes and diseases:
gene_symbol: PEX7
disease_id: OMIM:266500
disease_name: REFSUM DISEASE, CLASSIC
gene_symbol: PHYH
disease_id: OMIM:266500
disease_name: REFSUM DISEASE, CLASSIC
Phenotype: Decreased circulating plasmalogen concentration (HP:4000165)
Associated genes and diseases:
gene_symbol: GNPAT
disease_id: OMIM:222765
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2
Phenotype: Post-vaccination varicella zoster virus infection (HP:4000166)
Associated genes and diseases:
gene_symbol: CORO1A
disease_id: OMIM:615401
disease_name: IMMUNODEFICIENCY 8