TaoMedAI/RareMedData huggingface dataset:
Gene: KRAS
Phenotype: Short neck (HP:0000470)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: KRAS
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KRAS
Phenotype: Short neck (HP:0000470)
Associated disease: NOONAN SYNDROME 3 (OMIM:609942)
Gene: KRAS
Phenotype: Webbed neck (HP:0000465)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: KRAS
Phenotype: Webbed neck (HP:0000465)
Associated disease: NOONAN SYNDROME 3 (OMIM:609942)
Gene: KRAS
Phenotype: Webbed neck (HP:0000465)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: KRAS
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KRAS
Phenotype: Chronic fatigue (HP:0012432)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: KRAS
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KRAS
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KRAS
Phenotype: Abnormal toe morphology (HP:0001780)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: KRAS
Phenotype: Splenomegaly (HP:0001744)
Associated disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER (OMIM:614470)
Gene: KRAS
Phenotype: Abnormality of the spleen (HP:0001743)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: KRAS
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: OCULOECTODERMAL SYNDROME (OMIM:600268)
Gene: KRAS
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: KRAS
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: BLADDER CANCER (OMIM:109800)
Gene: KRAS
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: KRAS
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: KRAS
Phenotype: Malignant genitourinary tract tumor (HP:0006758)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: KRAS
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KRAS
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KRAS
Phenotype: Proptosis (HP:0000520)
Associated disease: Oculoectodermal syndrome; Aplasia cutis congenita-epibulbar dermoids syndrome (ORPHA:3339)
Gene: KRAS
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KRAS
Phenotype: Proptosis (HP:0000520)
Associated disease: OCULOECTODERMAL SYNDROME (OMIM:600268)
Gene: KRAS
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KRAS
Phenotype: Proptosis (HP:0000520)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: KRAS
Phenotype: Weight loss (HP:0001824)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: KRAS
Phenotype: Weight loss (HP:0001824)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: KRAS
Phenotype: Telecanthus (HP:0000506)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: KRAS
Phenotype: Telecanthus (HP:0000506)
Associated disease: Oculoectodermal syndrome; Aplasia cutis congenita-epibulbar dermoids syndrome (ORPHA:3339)
Gene: KRAS
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KRAS
Phenotype: Ptosis (HP:0000508)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 2 (OMIM:615278)
Gene: KRAS
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KRAS
Phenotype: Ptosis (HP:0000508)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: KRAS
Phenotype: Ptosis (HP:0000508)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: KRAS
Phenotype: Ptosis (HP:0000508)
Associated disease: NOONAN SYNDROME 3 (OMIM:609942)
Gene: KRAS
Phenotype: Abnormal conjunctiva morphology (HP:0000502)
Associated disease: Oculoectodermal syndrome; Aplasia cutis congenita-epibulbar dermoids syndrome (ORPHA:3339)
Gene: KRAS
Phenotype: Visual impairment (HP:0000505)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: KRAS
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: KRAS
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: KRAS
Phenotype: Abnormality of the ear (HP:0000598)
Associated disease: Oculoectodermal syndrome; Aplasia cutis congenita-epibulbar dermoids syndrome (ORPHA:3339)
Gene: KRAS
Phenotype: Non-small cell lung carcinoma (HP:0030358)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: KRAS
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Oculoectodermal syndrome; Aplasia cutis congenita-epibulbar dermoids syndrome (ORPHA:3339)
Gene: KRAS
Phenotype: Delayed menarche (HP:0012569)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: KRAS
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KRAS
Phenotype: Coloboma (HP:0000589)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: KRAS
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: KRAS
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: KRAS
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KRAS
Phenotype: Deep plantar creases (HP:0001869)
Associated disease: NOONAN SYNDROME 3 (OMIM:609942)
Gene: KRAS
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KRAS
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: OCULOECTODERMAL SYNDROME (OMIM:600268)
Gene: KRAS
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KRAS
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER (OMIM:614470)
Gene: KRAS
Phenotype: Pancytopenia (HP:0001876)
Associated disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER (OMIM:614470)
Gene: KRAS
Phenotype: Myopia (HP:0000545)
Associated disease: CARDIOFACIOCUTANEOUS SYNDROME 2 (OMIM:615278)
Gene: KRAS
Phenotype: Myopia (HP:0000545)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: KRAS
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER (OMIM:614470)
Gene: KRT1
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: Epidermolytic palmoplantar keratoderma of Voerner; Diffuse erythrodermic palmoplantar keratoderma, Vörner type; Epidermolytic palmoplantar keratoderma; EPPK; Epidermolytic palmoplantar keratoderma of Vörner; Diffuse erythrodermic palmoplantar keratoderma, Voerner type (ORPHA:2199)
Gene: KRT1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Epidermolytic palmoplantar keratoderma of Voerner; Diffuse erythrodermic palmoplantar keratoderma, Vörner type; Epidermolytic palmoplantar keratoderma; EPPK; Epidermolytic palmoplantar keratoderma of Vörner; Diffuse erythrodermic palmoplantar keratoderma, Voerner type (ORPHA:2199)
Gene: KRT1
Phenotype: Palmoplantar blistering (HP:0007446)
Associated disease: KRT1-related diffuse NEPPK; KRT1-related diffuse nonepidermolytic keratoderma (ORPHA:530838)
Gene: KRT1
Phenotype: Diffuse palmoplantar hyperkeratosis (HP:0007447)
Associated disease: Ichthyosis hystrix of Curth-Macklin; Ichthyosis hystrix, Curth-Macklin type (ORPHA:79503)
Gene: KRT1
Phenotype: Diffuse palmoplantar hyperkeratosis (HP:0007447)
Associated disease: KRT1-related diffuse NEPPK; KRT1-related diffuse nonepidermolytic keratoderma (ORPHA:530838)
Gene: KRT1
Phenotype: Diffuse palmoplantar hyperkeratosis (HP:0007447)
Associated disease: Epidermolytic palmoplantar keratoderma of Voerner; Diffuse erythrodermic palmoplantar keratoderma, Vörner type; Epidermolytic palmoplantar keratoderma; EPPK; Epidermolytic palmoplantar keratoderma of Vörner; Diffuse erythrodermic palmoplantar keratoderma, Voerner type (ORPHA:2199)
Gene: KRT1
Phenotype: Nonepidermolytic palmoplantar hyperkeratosis (HP:0007404)
Associated disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC (OMIM:600962)
Gene: KRT1
Phenotype: Nonepidermolytic palmoplantar hyperkeratosis (HP:0007404)
Associated disease: KRT1-related diffuse NEPPK; KRT1-related diffuse nonepidermolytic keratoderma (ORPHA:530838)
Gene: KRT1
Phenotype: Interphalangeal joint contracture of finger (HP:0001220)
Associated disease: Epidermolytic palmoplantar keratoderma of Voerner; Diffuse erythrodermic palmoplantar keratoderma, Vörner type; Epidermolytic palmoplantar keratoderma; EPPK; Epidermolytic palmoplantar keratoderma of Vörner; Diffuse erythrodermic palmoplantar keratoderma, Voerner type (ORPHA:2199)
Gene: KRT1
Phenotype: Clubbing (HP:0001217)
Associated disease: Epidermolytic palmoplantar keratoderma of Voerner; Diffuse erythrodermic palmoplantar keratoderma, Vörner type; Epidermolytic palmoplantar keratoderma; EPPK; Epidermolytic palmoplantar keratoderma of Vörner; Diffuse erythrodermic palmoplantar keratoderma, Voerner type (ORPHA:2199)
Gene: KRT1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Ichthyosis hystrix of Curth-Macklin; Ichthyosis hystrix, Curth-Macklin type (ORPHA:79503)
Gene: KRT1
Phenotype: Decreased movement range in interphalangeal joints (HP:0006203)
Associated disease: KRT1-related diffuse NEPPK; KRT1-related diffuse nonepidermolytic keratoderma (ORPHA:530838)
Gene: KRT1
Phenotype: Congenital bullous ichthyosiform erythroderma (HP:0007475)
Associated disease: Bullous congenital ichthyosiform erythroderma; EHK; Bullous congenital ichthyosiform erythroderma of Brock; EI; Epidermolytic hyperkeratosis; Ichthyosis hystrix Brocq type; BCIE; Autosomal dominant epidermolytic ichthyosis; Bullous ichthyosis (ORPHA:312)
Gene: KRT1
Phenotype: Congenital bullous ichthyosiform erythroderma (HP:0007475)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS (OMIM:113800)
Gene: KRT1
Phenotype: Autoamputation of digits (HP:0007460)
Associated disease: Ichthyosis hystrix of Curth-Macklin; Ichthyosis hystrix, Curth-Macklin type (ORPHA:79503)
Gene: KRT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS (OMIM:113800)
Gene: KRT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KERATOSIS PALMOPLANTARIS STRIATA III (OMIM:607654)
Gene: KRT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS (OMIM:113800)
Gene: KRT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC (OMIM:600962)
Gene: KRT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, 2 (OMIM:620411)
Gene: KRT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ICHTHYOSIS, ANNULAR EPIDERMOLYTIC, 2 (OMIM:620148)
Gene: KRT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE (OMIM:146590)
Gene: KRT1
Phenotype: Tendon thickening (HP:0032523)
Associated disease: KRT1-related diffuse NEPPK; KRT1-related diffuse nonepidermolytic keratoderma (ORPHA:530838)
Gene: KRT1
Phenotype: Knuckle pad (HP:0032541)
Associated disease: ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE (OMIM:146590)
Gene: KRT1
Phenotype: Knuckle pad (HP:0032541)
Associated disease: Epidermolytic palmoplantar keratoderma of Voerner; Diffuse erythrodermic palmoplantar keratoderma, Vörner type; Epidermolytic palmoplantar keratoderma; EPPK; Epidermolytic palmoplantar keratoderma of Vörner; Diffuse erythrodermic palmoplantar keratoderma, Voerner type (ORPHA:2199)
Gene: KRT1
Phenotype: Knuckle pad (HP:0032541)
Associated disease: KRT1-related diffuse NEPPK; KRT1-related diffuse nonepidermolytic keratoderma (ORPHA:530838)
Gene: KRT1
Phenotype: Thickened Achilles tendon (HP:0004690)
Associated disease: KRT1-related diffuse NEPPK; KRT1-related diffuse nonepidermolytic keratoderma (ORPHA:530838)
Gene: KRT1
Phenotype: Bleeding with minor or no trauma (HP:0011889)
Associated disease: Ichthyosis hystrix of Curth-Macklin; Ichthyosis hystrix, Curth-Macklin type (ORPHA:79503)
Gene: KRT1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ICHTHYOSIS, ANNULAR EPIDERMOLYTIC, 2 (OMIM:620148)
Gene: KRT1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE (OMIM:146590)
Gene: KRT1
Phenotype: Congenital onset (HP:0003577)
Associated disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC (OMIM:600962)
Gene: KRT1
Phenotype: Curly hair (HP:0002212)
Associated disease: PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, 2 (OMIM:620411)
Gene: KRT1
Phenotype: Conjunctival hamartoma (HP:0100780)
Associated disease: Bullous congenital ichthyosiform erythroderma; EHK; Bullous congenital ichthyosiform erythroderma of Brock; EI; Epidermolytic hyperkeratosis; Ichthyosis hystrix Brocq type; BCIE; Autosomal dominant epidermolytic ichthyosis; Bullous ichthyosis (ORPHA:312)
Gene: KRT1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Ichthyosis hystrix of Curth-Macklin; Ichthyosis hystrix, Curth-Macklin type (ORPHA:79503)
Gene: KRT1
Phenotype: Fragile skin (HP:0001030)
Associated disease: ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE (OMIM:146590)
Gene: KRT1
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: KRT1-related diffuse NEPPK; KRT1-related diffuse nonepidermolytic keratoderma (ORPHA:530838)
Gene: KRT1
Phenotype: Erythroderma (HP:0001019)
Associated disease: Bullous congenital ichthyosiform erythroderma; EHK; Bullous congenital ichthyosiform erythroderma of Brock; EI; Epidermolytic hyperkeratosis; Ichthyosis hystrix Brocq type; BCIE; Autosomal dominant epidermolytic ichthyosis; Bullous ichthyosis (ORPHA:312)
Gene: KRT1
Phenotype: Erythroderma (HP:0001019)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS (OMIM:113800)
Gene: KRT1
Phenotype: Impaired tactile sensation (HP:0010830)
Associated disease: Epidermolytic palmoplantar keratoderma of Voerner; Diffuse erythrodermic palmoplantar keratoderma, Vörner type; Epidermolytic palmoplantar keratoderma; EPPK; Epidermolytic palmoplantar keratoderma of Vörner; Diffuse erythrodermic palmoplantar keratoderma, Voerner type (ORPHA:2199)
Gene: KRT1
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS (OMIM:113800)
Gene: KRT1
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: Epidermolytic palmoplantar keratoderma of Voerner; Diffuse erythrodermic palmoplantar keratoderma, Vörner type; Epidermolytic palmoplantar keratoderma; EPPK; Epidermolytic palmoplantar keratoderma of Vörner; Diffuse erythrodermic palmoplantar keratoderma, Voerner type (ORPHA:2199)
Gene: KRT1
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Epidermolytic palmoplantar keratoderma of Voerner; Diffuse erythrodermic palmoplantar keratoderma, Vörner type; Epidermolytic palmoplantar keratoderma; EPPK; Epidermolytic palmoplantar keratoderma of Vörner; Diffuse erythrodermic palmoplantar keratoderma, Voerner type (ORPHA:2199)
Gene: KRT1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Bullous congenital ichthyosiform erythroderma; EHK; Bullous congenital ichthyosiform erythroderma of Brock; EI; Epidermolytic hyperkeratosis; Ichthyosis hystrix Brocq type; BCIE; Autosomal dominant epidermolytic ichthyosis; Bullous ichthyosis (ORPHA:312)
Gene: KRT1
Phenotype: Skin erosion (HP:0200041)
Associated disease: ICHTHYOSIS, ANNULAR EPIDERMOLYTIC, 2 (OMIM:620148)
Gene: KRT1
Phenotype: Erythema (HP:0010783)
Associated disease: ICHTHYOSIS, ANNULAR EPIDERMOLYTIC, 2 (OMIM:620148)
Gene: KRT1
Phenotype: Erythema (HP:0010783)
Associated disease: KRT1-related diffuse NEPPK; KRT1-related diffuse nonepidermolytic keratoderma (ORPHA:530838)
Gene: KRT1
Phenotype: Palmar hyperkeratosis (HP:0010765)
Associated disease: Epidermolytic palmoplantar keratoderma of Voerner; Diffuse erythrodermic palmoplantar keratoderma, Vörner type; Epidermolytic palmoplantar keratoderma; EPPK; Epidermolytic palmoplantar keratoderma of Vörner; Diffuse erythrodermic palmoplantar keratoderma, Voerner type (ORPHA:2199)
Gene: KRT1
Phenotype: Amniotic constriction ring (HP:0009775)
Associated disease: ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE (OMIM:146590)
Gene: KRT1
Phenotype: Poor appetite (HP:0004396)
Associated disease: Bullous congenital ichthyosiform erythroderma; EHK; Bullous congenital ichthyosiform erythroderma of Brock; EI; Epidermolytic hyperkeratosis; Ichthyosis hystrix Brocq type; BCIE; Autosomal dominant epidermolytic ichthyosis; Bullous ichthyosis (ORPHA:312)
Gene: KRT1
Phenotype: Childhood onset (HP:0011463)
Associated disease: PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, 2 (OMIM:620411)
Gene: KRT1
Phenotype: Childhood onset (HP:0011463)
Associated disease: KERATOSIS PALMOPLANTARIS STRIATA III (OMIM:607654)
Gene: KRT1
Phenotype: Hyperkeratotic papule (HP:0045059)
Associated disease: ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE (OMIM:146590)
Gene: KRT1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Epidermolytic palmoplantar keratoderma of Voerner; Diffuse erythrodermic palmoplantar keratoderma, Vörner type; Epidermolytic palmoplantar keratoderma; EPPK; Epidermolytic palmoplantar keratoderma of Vörner; Diffuse erythrodermic palmoplantar keratoderma, Voerner type (ORPHA:2199)
Gene: KRT1
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: ICHTHYOSIS, ANNULAR EPIDERMOLYTIC, 2 (OMIM:620148)
Gene: KRT1
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS (OMIM:113800)
Gene: KRT1
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: Epidermolytic palmoplantar keratoderma of Voerner; Diffuse erythrodermic palmoplantar keratoderma, Vörner type; Epidermolytic palmoplantar keratoderma; EPPK; Epidermolytic palmoplantar keratoderma of Vörner; Diffuse erythrodermic palmoplantar keratoderma, Voerner type (ORPHA:2199)
Gene: KRT1
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, 2 (OMIM:620411)
Gene: KRT1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Bullous congenital ichthyosiform erythroderma; EHK; Bullous congenital ichthyosiform erythroderma of Brock; EI; Epidermolytic hyperkeratosis; Ichthyosis hystrix Brocq type; BCIE; Autosomal dominant epidermolytic ichthyosis; Bullous ichthyosis (ORPHA:312)
Gene: KRT1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Bullous congenital ichthyosiform erythroderma; EHK; Bullous congenital ichthyosiform erythroderma of Brock; EI; Epidermolytic hyperkeratosis; Ichthyosis hystrix Brocq type; BCIE; Autosomal dominant epidermolytic ichthyosis; Bullous ichthyosis (ORPHA:312)
Gene: KRT1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: ICHTHYOSIS, ANNULAR EPIDERMOLYTIC, 2 (OMIM:620148)
Gene: KRT1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Keratosis palmoplantaris striata et areata; Keratosis palmoplantaris striata; Striate palmoplantar keratoderma; Keratosis palmoplantaris varians of Wachters (ORPHA:50942)
Gene: KRT1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE (OMIM:146590)
Gene: KRT1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: KERATOSIS PALMOPLANTARIS STRIATA III (OMIM:607654)
Gene: KRT1
Phenotype: Dry skin (HP:0000958)
Associated disease: KRT1-related diffuse NEPPK; KRT1-related diffuse nonepidermolytic keratoderma (ORPHA:530838)
Gene: KRT1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Bullous congenital ichthyosiform erythroderma; EHK; Bullous congenital ichthyosiform erythroderma of Brock; EI; Epidermolytic hyperkeratosis; Ichthyosis hystrix Brocq type; BCIE; Autosomal dominant epidermolytic ichthyosis; Bullous ichthyosis (ORPHA:312)
Gene: KRT1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Ichthyosis hystrix of Curth-Macklin; Ichthyosis hystrix, Curth-Macklin type (ORPHA:79503)
Gene: KRT1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Epidermolytic palmoplantar keratoderma of Voerner; Diffuse erythrodermic palmoplantar keratoderma, Vörner type; Epidermolytic palmoplantar keratoderma; EPPK; Epidermolytic palmoplantar keratoderma of Vörner; Diffuse erythrodermic palmoplantar keratoderma, Voerner type (ORPHA:2199)
Gene: KRT1
Phenotype: Orthokeratosis (HP:0040162)
Associated disease: ICHTHYOSIS, ANNULAR EPIDERMOLYTIC, 2 (OMIM:620148)
Gene: KRT1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Bullous congenital ichthyosiform erythroderma; EHK; Bullous congenital ichthyosiform erythroderma of Brock; EI; Epidermolytic hyperkeratosis; Ichthyosis hystrix Brocq type; BCIE; Autosomal dominant epidermolytic ichthyosis; Bullous ichthyosis (ORPHA:312)
Gene: KRT1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: ICHTHYOSIS, ANNULAR EPIDERMOLYTIC, 2 (OMIM:620148)
Gene: KRT1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Ichthyosis hystrix of Curth-Macklin; Ichthyosis hystrix, Curth-Macklin type (ORPHA:79503)
Gene: KRT1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Bullous congenital ichthyosiform erythroderma; EHK; Bullous congenital ichthyosiform erythroderma of Brock; EI; Epidermolytic hyperkeratosis; Ichthyosis hystrix Brocq type; BCIE; Autosomal dominant epidermolytic ichthyosis; Bullous ichthyosis (ORPHA:312)
Gene: KRT1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: ICHTHYOSIS, ANNULAR EPIDERMOLYTIC, 2 (OMIM:620148)
Gene: KRT1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS (OMIM:113800)
Gene: KRT1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE (OMIM:146590)
Gene: KRT1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Epidermolytic palmoplantar keratoderma of Voerner; Diffuse erythrodermic palmoplantar keratoderma, Vörner type; Epidermolytic palmoplantar keratoderma; EPPK; Epidermolytic palmoplantar keratoderma of Vörner; Diffuse erythrodermic palmoplantar keratoderma, Voerner type (ORPHA:2199)
Gene: KRT1
Phenotype: Scaling skin (HP:0040189)
Associated disease: ICHTHYOSIS, ANNULAR EPIDERMOLYTIC, 2 (OMIM:620148)
Gene: KRT1
Phenotype: Scaling skin (HP:0040189)
Associated disease: EPIDERMOLYTIC HYPERKERATOSIS (OMIM:113800)
Gene: KRT1
Phenotype: Scaling skin (HP:0040189)
Associated disease: KRT1-related diffuse NEPPK; KRT1-related diffuse nonepidermolytic keratoderma (ORPHA:530838)
Gene: KRT1
Phenotype: Scaling skin (HP:0040189)
Associated disease: ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE (OMIM:146590)
Gene: KRT1
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Keratosis palmoplantaris striata et areata; Keratosis palmoplantaris striata; Striate palmoplantar keratoderma; Keratosis palmoplantaris varians of Wachters (ORPHA:50942)
Gene: KRT1
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: KERATOSIS PALMOPLANTARIS STRIATA III (OMIM:607654)
Gene: KRT1
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Keratosis palmoplantaris striata et areata; Keratosis palmoplantaris striata; Striate palmoplantar keratoderma; Keratosis palmoplantaris varians of Wachters (ORPHA:50942)
Gene: KRT1
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: KERATOSIS PALMOPLANTARIS STRIATA III (OMIM:607654)