TaoMedAI/RareMedData huggingface dataset:
Gene: CDKN1C
Phenotype: Dysmenorrhea (HP:0100607)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Placental mesenchymal dysplasia (HP:0032165)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Short stature (HP:0004322)
Associated disease: Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome (ORPHA:436144)
Gene: CDKN1C
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES (OMIM:614732)
Gene: CDKN1C
Phenotype: Renal cortical cysts (HP:0000803)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Short nose (HP:0003196)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES (OMIM:614732)
Gene: CDKN1C
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES (OMIM:614732)
Gene: CDKN1C
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe syndrome (ORPHA:85173)
Gene: CDKN1C
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES (OMIM:614732)
Gene: CDKN1C
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Short 5th finger (HP:0009237)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Overgrowth of external genitalia (HP:0003247)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES (OMIM:614732)
Gene: CDKN1C
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe syndrome (ORPHA:85173)
Gene: CDKN1C
Phenotype: Ectrodactyly (HP:0100257)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Osteopenia (HP:0000938)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES (OMIM:614732)
Gene: CDKN1C
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Coarse facial features (HP:0000280)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Macrocephaly (HP:0000256)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES (OMIM:614732)
Gene: CDKN1C
Phenotype: Prominent occiput (HP:0000269)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Large fontanelles (HP:0000239)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Hepatoblastoma (HP:0002884)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Overgrowth (HP:0001548)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Diastasis recti (HP:0001540)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Omphalocele (HP:0001539)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome (ORPHA:436144)
Gene: CDKN1C
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe syndrome (ORPHA:85173)
Gene: CDKN1C
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES (OMIM:614732)
Gene: CDKN1C
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Low-set ears (HP:0000369)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES (OMIM:614732)
Gene: CDKN1C
Phenotype: Low-set ears (HP:0000369)
Associated disease: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe syndrome (ORPHA:85173)
Gene: CDKN1C
Phenotype: Low-set ears (HP:0000369)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Micrognathia (HP:0000347)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Micromelia (HP:0002983)
Associated disease: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe syndrome (ORPHA:85173)
Gene: CDKN1C
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Triangular face (HP:0000325)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe syndrome (ORPHA:85173)
Gene: CDKN1C
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES (OMIM:614732)
Gene: CDKN1C
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Microphallus (HP:0030260)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Adrenocortical carcinoma (HP:0006744)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Proptosis (HP:0000520)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Prominent forehead (HP:0011220)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES (OMIM:614732)
Gene: CDKN1C
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN2A
Phenotype: Increased serum estradiol (HP:0025134)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CDKN2A
Phenotype: Nevus (HP:0003764)
Associated disease: Familial melanoma (ORPHA:618)
Gene: CDKN2A
Phenotype: Panic attack (HP:0025269)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CDKN2A
Phenotype: Neoplasm of the gastrointestinal tract (HP:0007378)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CDKN2A
Phenotype: Abnormality of reproductive system physiology (HP:0000080)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CDKN2A
Phenotype: Increased circulating androstenedione concentration (HP:0025380)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CDKN2A
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: MELANOMA-ASTROCYTOMA SYNDROME (OMIM:155755)
Gene: CDKN2A
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (OMIM:155601)
Gene: CDKN2A
Phenotype: Increased urinary cortisol level (HP:0012030)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CDKN2A
Phenotype: Ovarian carcinoma (HP:0025318)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: CDKN2A
Phenotype: Neoplasm (HP:0002664)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CDKN2A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CDKN2A
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CDKN2A
Phenotype: Lymphoma (HP:0002665)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CDKN2A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MELANOMA-ASTROCYTOMA SYNDROME (OMIM:155755)
Gene: CDKN2A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MELANOMA-PANCREATIC CANCER SYNDROME (OMIM:606719)
Gene: CDKN2A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (OMIM:155601)
Gene: CDKN2A
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CDKN2A
Phenotype: Oropharyngeal squamous cell carcinoma (HP:0012182)
Associated disease: MELANOMA-PANCREATIC CANCER SYNDROME (OMIM:606719)
Gene: CDKN2A
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CDKN2A
Phenotype: Pancreatic squamous cell carcinoma (HP:0012142)
Associated disease: MELANOMA-PANCREATIC CANCER SYNDROME (OMIM:606719)
Gene: CDKN2A
Phenotype: Prostate cancer (HP:0012125)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CDKN2A
Phenotype: Stomach cancer (HP:0012126)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CDKN2A
Phenotype: Elevated serum 11-deoxycortisol (HP:0025436)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CDKN2A
Phenotype: Freckling (HP:0001480)
Associated disease: Familial melanoma (ORPHA:618)
Gene: CDKN2A
Phenotype: Abnormal circulating dehydroepiandrosterone concentration (HP:0500022)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CDKN2A
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: CDKN2A
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: CDKN2A
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: CDKN2A
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CDKN2A
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: CDKN2A
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CDKN2A
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Familial melanoma (ORPHA:618)
Gene: CDKN2A
Phenotype: Anorexia (HP:0002039)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: CDKN2A
Phenotype: Adrenocorticotropic hormone deficiency (HP:0011748)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CDKN2A
Phenotype: Peritoneal abscess (HP:0100592)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: CDKN2A
Phenotype: Paradoxical increased cortisol secretion on dexamethasone suppression test (HP:0003466)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CDKN2A
Phenotype: Back pain (HP:0003418)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: CDKN2A
Phenotype: Astrocytoma (HP:0009592)
Associated disease: MELANOMA-ASTROCYTOMA SYNDROME (OMIM:155755)
Gene: CDKN2A
Phenotype: Astrocytoma (HP:0009592)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CDKN2A
Phenotype: Intermittent diarrhea (HP:0002254)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: CDKN2A
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Familial melanoma (ORPHA:618)
Gene: CDKN2A
Phenotype: Choriocarcinoma (HP:0100768)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CDKN2A
Phenotype: Renal neoplasm (HP:0009726)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CDKN2A
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CDKN2A
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CDKN2A
Phenotype: Striae distensae (HP:0001065)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CDKN2A
Phenotype: Neoplasm of the larynx (HP:0100605)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CDKN2A
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CDKN2A
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CDKN2A
Phenotype: Testicular neoplasm (HP:0010788)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CDKN2A
Phenotype: Palpitations (HP:0001962)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CDKN2A
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CDKN2A
Phenotype: Leukemia (HP:0001909)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CDKN2A
Phenotype: Increased body weight (HP:0004324)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CDKN2A
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CDKN2A
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: CDKN2A
Phenotype: Colon cancer (HP:0003003)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CDKN2A
Phenotype: Colon cancer (HP:0003003)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: CDKN2A
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: CDKN2A
Phenotype: Poor appetite (HP:0004396)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: CDKN2A
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: Familial melanoma (ORPHA:618)
Gene: CDKN2A
Phenotype: Neoplasm of the central nervous system (HP:0100006)
Associated disease: Li-Fraumeni syndrome (ORPHA:524)
Gene: CDKN2A
Phenotype: Irritability (HP:0000737)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CDKN2A
Phenotype: Anxiety (HP:0000739)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CDKN2A
Phenotype: Abnormality of urine homeostasis (HP:0003110)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CDKN2A
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CDKN2A
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CDKN2A
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)