Only Phenotypes that can be linked to residues in CREDO are displayed.
Phenotype ID Description ID Variations Targets Residues Binding Sites Interfaces Grooves
6 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY
7 2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
14 3-@KETOTHIOLASE DEFICIENCY
17 3-@METHYLGLUTACONIC ACIDURIA, TYPE I
43 ACHONDROPLASIA
68 ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
69 ADENYLOSUCCINASE DEFICIENCY
77 ADRENOCORTICAL CARCINOMA, PEDIATRIC
78 ADRENOCORTICAL INSUFFICIENCY
80 ADRENOLEUKODYSTROPHY, NEONATAL
82 ADULT SYNDROME
87 AGAMMAGLOBULINEMIA 2
88 AGAMMAGLOBULINEMIA 6
89 AGAMMAGLOBULINEMIA, X-LINKED
97 AICARDI-GOUTIERES SYNDROME 2
98 AICARDI-GOUTIERES SYNDROME 3
99 AICARDI-GOUTIERES SYNDROME 4
100 AICARDI-GOUTIERES SYNDROME 5
111 ALBUMIN
119 ALBUMIN FUKUOKA 1
130 ALBUMIN LAMBADI
139 ALBUMIN NAGOYA
141 ALBUMIN ORTONOVO
146 ALBUMIN ROMA
153 ALBUMIN VIBO VALENTIA
155 ALCOHOL DEHYDROGENASE 1B, CLASS I, BETA POLYPEPTIDE
158 ALCOHOL SENSITIVITY, ACUTE
166 ALKAPTONURIA
183 ALPHA-PLUS-THALASSEMIA
184 ALPHA-THALASSEMIA
201 ALZHEIMER DISEASE, FAMILIAL, 1
214 AMINOACYLASE 1 DEFICIENCY
219 AMYLOID POLYNEUROPATHY-NEPHROPATHY, IOWA TYPE
220 AMYLOIDOSIS, CARDIAC AND CUTANEOUS
221 AMYLOIDOSIS, CEREBROARTERIAL, ICELANDIC TYPE
222 AMYLOIDOSIS, FAMILIAL VISCERAL
224 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
225 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF
226 AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
228 AMYLOIDOSIS, SYSTEMIC NONNEUROPATHIC
229 AMYOTROPHIC LATERAL SCLEROSIS 1
230 AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
235 AMYOTROPHIC LATERAL SCLEROSIS 17
237 AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA
238 AMYOTROPHIC LATERAL SCLEROSIS 6, AUTOSOMAL RECESSIVE
239 AMYOTROPHIC LATERAL SCLEROSIS 8
240 AMYOTROPHIC LATERAL SCLEROSIS 9
259 ANEMIA, NEONATAL HEMOLYTIC, FATAL AND NEAR-FATAL
268 ANGELMAN SYNDROME
273 ANGIOGENIN
287 ANTICHYMOTRYPSIN BOCHUM 1
289 ANTICHYMOTRYPSIN ISEHARA 1
296 APERT SYNDROME
310 APOLIPOPROTEIN A-I (BALTIMORE)
311 APOLIPOPROTEIN A-I (GIESSEN)
312 APOLIPOPROTEIN A-I (MARBURG)
313 APOLIPOPROTEIN A-I (MILANO)
314 APOLIPOPROTEIN A-I (MUNSTER3B)
315 APOLIPOPROTEIN A-I (MUNSTER3C)
316 APOLIPOPROTEIN A-I (MUNSTER4)
317 APOLIPOPROTEIN A-I (NORWAY)
318 APOLIPOPROTEIN A-I DEFICIENCY
335 APRT DEFICIENCY
337 APRT DEFICIENCY, COMPLETE, ICELANDIC TYPE
340 AQUAPORIN 1 DEFICIENCY
344 ARGININEMIA
345 ARGININOSUCCINIC ACIDURIA
348 AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
362 ARTS SYNDROME
365 ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE
367 ASPARTYLGLUCOSAMINURIA
400 ATRANSFERRINEMIA
441 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA
442 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE
500 BCHE, J VARIANT
523 BETA-ZERO-THALASSEMIA
559 BLOOD GROUP--OK
589 BRACHYDACTYLY, TYPE B2
609 BREAST CANCER, SOMATIC
610 BREAST CANCER, SUSCEPTIBILITY TO
611 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
619 BRUGADA SYNDROME 1
633 C1q DEFICIENCY
647 CANAVAN DISEASE
658 CARBONIC ANHYDRASE II VARIANT
665 CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO
680 CARDIOMYOPATHY, DILATED, 1N
682 CARDIOMYOPATHY, DILATED, 1P
691 CARDIOMYOPATHY, DILATED, 1Z
697 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
702 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2
706 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
708 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1
721 CARPAL TUNNEL SYNDROME, FAMILIAL
723 CASPASE 8 DEFICIENCY
725 CATARACT, AGE-RELATED CORTICAL, 2
734 CATARACT, CONGENITAL, CERULEAN TYPE, 2
751 CATARACT, PULVERULENT, AUTOSOMAL DOMINANT
769 CELIAC DISEASE
783 CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL